Color Atlas of Pediatrics PDF

Mc
Graw
Hill
Education
RICHARD P. USATINE
CAMILLE SABELLA
Mindy Ann Smith E.J. Mayeaux, Jr. • Heidi S. Chumley Elumalai Appachi
THE CO LO R ATLAS
O F PEDIATRICS
NO TICE
Medicine is an ever-changing science. As new research and clinical experience broaden our
knowledge, changes in treatment and drug therapy are required. The authors and the publisher of
this work have checked with sources believed to be reliable in their efforts to provide information
that is complete and generally in accord with the standards accepted at the time of publication.
However, in view of the possibility of human error or changes in medical sciences, neither the
authors nor the publisher, nor any other party who has been involved in the preparation or
publication of this work, warrants that the information contained herein is in every respect
accurate or complete, and they disclaim all responsibility for any errors or omissions, or for the
results obtained from use of the information contained in this work. Readers are encouraged to
con rm the information contained herein with other sources. For example and in particular,
readers are advised to check the product information sheet included in the package of each drug
they plan to administer to be certain that the information contained in this work is accurate and
that changes have not been made in the recommended dose or in the contraindications for
administration. This recommendation is of particular importance in connection with new or
infrequently used drugs.
THE CO LO R ATLAS
O F PEDIATRICS
EDITO RS
Richard P. Usat ine , MD Camille Sab e lla, MD
Professor of Family and Community Medicine Associate Professor of Pediatrics
Professor of Dermatology and Cutaneous Surgery Vice Chair for Education, Pediatric Institute
Assistant Director, Medical Humanities Education Center for Pediatric Infectious Diseases
University of Texas Health Science Center at San Antonio Cleveland Clinic Children’s
Medical Director, Skin Clinic, University Health System Cleveland, Ohio
San Antonio, Texas
Mind y Ann Smit h, MD E.J . Maye aux, J r., MD

Clinical Professor Professor and Chairman, Department of Family
Department of Family Medicine and Preventive Medicine
Michigan State University Professor of Obstetrics and Gynecology
East Lansing, Michigan University of South Carolina School of Medicine
Columbia, South Carolina
He id i S. Chumle y, MD Elumalai Ap p achi, MD, MRCP (UK)

Executive Dean and Chief Academic Of cer Department of Pediatric Critical Care
American University of the Caribbean Cleveland Clinic Children’s
Cleveland, Ohio
ERRNVPHGLFRVRUJ
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DEDICATIO N
To our patients who unsel shly agreed to let us display their diseases and af ictions
to the world to enhance the study and practice of medicine. We are honored by
this trust. We have learned much from our patients as they continue to
help us teach the next generation of health care providers.
Sincerely,
Richard P. Usatine, MD
Camille Sabella, MD
Mindy Ann Smith, MD
E.J. Mayeaux, Jr., MD
Heidi S. Chumley, MD
Elumalai Appachi, MD, MRCP (UK)
CO NTENTS vii
Contributors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xi Se ct io n 2: No se and Sinus

Preface . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xiii 26 Sinusitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 156
Acknowledgments. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xv 27 Complications of Sinusitis . . . . . . . . . . . . . . . . . . . . . . . 162
28 Scarlet Fever and StrawberryTongue. . . . . . . . . . . . . . . . 171
PART 1 Se ct io n 3: Mo ut h and Thro at
29 Upper Respiratory Infections Including Pharyngitis. . . . . . 175
LEARNING WITH IMAGES AND DIGITAL
30 Acute Upper Airway Obstruction . . . . . . . . . . . . . . . . . . 183
PHO TO GRAPHY
31 Chronic Upper Airway Obstruction— Laryngomalacia . . . 192
1 An Atlas to Enhance Patient Care, Learning, and Teaching . . . 2
32 Thyroglossal Duct Cyst and Other Head and Neck Masses . . 195
Se ct io n 4: Ne ck
PART 2
33 Lymphadenopathy . . . . . . . . . . . . . . . . . . . . . . . . . . . . 199
THE ESSENCE O F PEDIATRICS 34 Congenital Anomalies of the Head and Neck . . . . . . . . . . 204
2 Doctor—Patient Relationship . . . . . . . . . . . . . . . . . . . . . . 6
3 Patient- and Family-Centered Care . . . . . . . . . . . . . . . . . . . 8 PART 6
4 The Birth of a Child . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12
5 Pediatric Palliative Care . . . . . . . . . . . . . . . . . . . . . . . . . 20
O RAL HEALTH
35 Geographic Tongue . . . . . . . . . . . . . . . . . . . . . . . . . . . . 222
6 Social Justice . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31
36 Early Childhood Caries . . . . . . . . . . . . . . . . . . . . . . . . . 225
7 Global Health . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 42
37 Dental Complications: Hard Tissue (Teeth) . . . . . . . . . . . 229
38 Dental Complications—Soft Tissue (Gingiva and Mucosa) . 233
PART 3
39 Herpes Simplex Virus Gingivostomatitis . . . . . . . . . . . . . 239
PHYSICAL AND SEXUAL ABUSE 40 Aphthous Ulcer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 243
8 Child Physical Abuse . . . . . . . . . . . . . . . . . . . . . . . . . . . . 66
9 Child Sexual Abuse . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 72 PART 7
PART 4 THE HEART AND CIRCULATIO N

41 Clubbing and Cyanosis . . . . . . . . . . . . . . . . . . . . . . . . . 250
O PHTHALMO LO GY 42 Acyanotic Congenital Heart Disease . . . . . . . . . . . . . . . . 254
10 Hordeolum and Chalazion . . . . . . . . . . . . . . . . . . . . . . . . 78 43 Cyanotic Congenital Heart Disease. . . . . . . . . . . . . . . . . 260
11 Corneal Foreign Body and Corneal Abrasion . . . . . . . . . . . 82 44 Bacterial Endocarditis . . . . . . . . . . . . . . . . . . . . . . . . . . 264
12 Conjunctivitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85 45 Acute Rheumatic Fever . . . . . . . . . . . . . . . . . . . . . . . . . 269
13 Uveitis and Iritis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 89 46 Common Dysrhythmias . . . . . . . . . . . . . . . . . . . . . . . . 272
14 Neonatal Nasolacrimal Duct Obstruction . . . . . . . . . . . . . 92 47 Syndromes Associated with Heart Disease . . . . . . . . . . . . 280
15 Strabismus and Pseudostrabismus . . . . . . . . . . . . . . . . . . . 98
16 Retinoblastoma and the Differential Diagnosis of PART 8
Leukocoria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 104
17 Preseptal (Periorbital) Cellulitis . . . . . . . . . . . . . . . . . . . 115 THE LUNGS
18 Orbital Cellulitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119 48 Bronchiolitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 292
19 Eye Trauma—Hyphema . . . . . . . . . . . . . . . . . . . . . . . . 123 49 Asthma and Pulmonary Function Testing . . . . . . . . . . . . . 295
50 Community-Acquired Pneumonia . . . . . . . . . . . . . . . . . 307
PART 5 51 Cystic Fibrosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 318
52 Congenital Pulmonary Malformations. . . . . . . . . . . . . . . 324
EAR, NO SE, AND THRO AT
Se ct io n 1: Ear PART 9
20 Preauricular Tags . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 128
21 Otitis Externa . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131 THE GASTRO INTESTINAL TRACT AND
22 Otitis Media—Acute Otitis and Otitis Media NUTRITIO NAL DISO RDERS
with Effusion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 136 53 Failure to Thrive. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 342
23 Mastoiditis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145 54 Esophageal Disorders: Gastroesophageal Re ux Disease
24 Ear—Foreign Body. . . . . . . . . . . . . . . . . . . . . . . . . . . . 150 and Eosinophilic Esophagitis . . . . . . . . . . . . . . . . . . . . . 349
25 Nasal Polyps . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 153 55 Peptic Ulcer Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . 353
CO NTENTS
viii
56 Foreign Body Ingestion . . . . . . . . . . . . . . . . . . . . . . . . . 359 89 Slipped Capital Femoral Epiphysis (SCFE) . . . . . . . . . . . . 539
57 Pyloric Stenosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 366 90 Osgood-Schlatter . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 543
58 Intussusception . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 370 91 Scoliosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 547
59 In ammatory Bowel Disease . . . . . . . . . . . . . . . . . . . . . 375
60 Celiac Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 382 PART 14
61 Neonatal Cholestasis. . . . . . . . . . . . . . . . . . . . . . . . . . . 387
DERMATO LO GY
62 Anal and Rectal Disorders . . . . . . . . . . . . . . . . . . . . . . . 392
Se ct io n 1: Early Child ho o d De rmat o lo g y
63 Nutritional Disorders in Children. . . . . . . . . . . . . . . . . . 402
92 Normal Skin Changes of Infancy. . . . . . . . . . . . . . . . . . . 556
93 Childhood Hemangiomas and Vascular Malformations . . . . 561
PART 10 94 Pustular Diseases of Early Childhood . . . . . . . . . . . . . . . 567
THE GENITO RURINARY SYSTEM 95 Diaper Rash and Perianal Dermatitis. . . . . . . . . . . . . . . . 571
AND KIDNEYS Se ct io n 2: Acne ifo rm Diso rd e rs
64 Urinary Sediment/ UrinaryTract Infections . . . . . . . . . . . 410 96 Acne Vulgaris. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 576
65 Hydronephrosis and Ureteropelvic Junction 97 Rosacea . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 584
Obstruction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 416 98 Hidradenitis Suppurativa . . . . . . . . . . . . . . . . . . . . . . . . 589
66 Polycystic Kidneys . . . . . . . . . . . . . . . . . . . . . . . . . . . . 425 Se ct io n 3: Bact e rial
67 Nephrotic Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . 431 99 Impetigo . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 593
68 Nephritic Syndromes . . . . . . . . . . . . . . . . . . . . . . . . . . 435 100 Folliculitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 598
69 Hemolytic Uremic Syndrome . . . . . . . . . . . . . . . . . . . . 438 101 Pitted Keratolysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 603
70 Pediatric Kidney Stones. . . . . . . . . . . . . . . . . . . . . . . . . 444 102 Erythrasma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 606
71 Renovascular Hypertension . . . . . . . . . . . . . . . . . . . . . . 449 103 Cellulitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 609
104 Abscess. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 613
PART 11 105 Staphylococcal Scalded Skin Syndrome . . . . . . . . . . . . . . 616
NEWBO RN 106 Necrotizing Fasciitis . . . . . . . . . . . . . . . . . . . . . . . . . . . 619
72 Neonatal Conjunctivitis. . . . . . . . . . . . . . . . . . . . . . . . . 454 107 Ecthyma Gangrenosum . . . . . . . . . . . . . . . . . . . . . . . . . 624
73 Abdominal Wall Defects . . . . . . . . . . . . . . . . . . . . . . . . 458 Se ct io n 4: Viral
108 Varicella . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 626
PART 12 109 Herpes Zoster . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 631
110 Zoster Ophthalmicus . . . . . . . . . . . . . . . . . . . . . . . . . . 635
ADO LESCENT PRO BLEMS 111 Measles. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 639
74 Overview ofVaginitis . . . . . . . . . . . . . . . . . . . . . . . . . . 464 112 Fifth Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 644
75 Mucosal Ulcerative Disorders in Female Adolescents. . . . . 468 113 Hand Foot Mouth Syndrome . . . . . . . . . . . . . . . . . . . . . 648
76 Bacterial Vaginosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . 476 114 Herpes Simplex . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 653
77 CandidaVulvovaginitis . . . . . . . . . . . . . . . . . . . . . . . . . 480 115 Molluscum Contagiosum. . . . . . . . . . . . . . . . . . . . . . . . 661
78 TrichomonasVaginitis . . . . . . . . . . . . . . . . . . . . . . . . . . 485 116 Common Warts . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 666
79 Chlamydia Cervicitis. . . . . . . . . . . . . . . . . . . . . . . . . . . 489 117 Flat Warts . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 672
80 Breast Masses in Adolescents . . . . . . . . . . . . . . . . . . . . . 494 118 Genital Warts. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 676
81 Complications of Tattoos and Piercings . . . . . . . . . . . . . 499 119 Plantar Warts . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 682
Se ct io n 5: Fung al
PART 13 120 Fungal Overview . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 687
MUSCULO SKELETAL PRO BLEMS 121 Candidiasis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 693
82 Nursemaid’s Elbow. . . . . . . . . . . . . . . . . . . . . . . . . . . . 508 122 Tinea Capitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 697
83 Clavicular Fracture . . . . . . . . . . . . . . . . . . . . . . . . . . . . 512 123 Tinea Corporis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 703
84 Forearm Fractures . . . . . . . . . . . . . . . . . . . . . . . . . . . . 516 124 Tinea Cruris . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 708
85 Metatarsal Fracture . . . . . . . . . . . . . . . . . . . . . . . . . . . 522 125 Tinea Pedis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 712
86 Club Feet . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 525 126 TineaVersicolor . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 717
87 Developmental Dysplasia of the Hip . . . . . . . . . . . . . . . . 530 Se ct io n 6: Infe st at io ns
88 Legg-Calvé-Perthes . . . . . . . . . . . . . . . . . . . . . . . . . . . 535 127 Lice . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 721
CO NTENTS
ix
128 Scabies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 726 Se ct io n 15: Pig me nt ary Co nd it io ns

129 Cutaneous Larva Migrans . . . . . . . . . . . . . . . . . . . . . . . 734 167 Vitiligo and Hypopigmentation . . . . . . . . . . . . . . . . . . . 951
Se ct io n 7: De rmat it is/ Alle rg ic 168 Disorders of Hyperpigmentation . . . . . . . . . . . . . . . . . . 958
130 Atopic Dermatitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . 737 Se ct io n 16: Ge ne t ic Skin Diso rd e rs
131 Contact Dermatitis. . . . . . . . . . . . . . . . . . . . . . . . . . . . 745 169 Genodermatoses . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 968
132 Eczema Herpeticum . . . . . . . . . . . . . . . . . . . . . . . . . . . 752 170 Vascular and Lymphatic Malformations . . . . . . . . . . . . . . 976
133 Nummular Eczema. . . . . . . . . . . . . . . . . . . . . . . . . . . . 756 171 Ichthyosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 982
134 Urticaria and Angioedema . . . . . . . . . . . . . . . . . . . . . . . 761
Se ct io n 8: Pap ulo sq uamo us Co nd it io ns PART 15
135 Seborrheic Dermatitis. . . . . . . . . . . . . . . . . . . . . . . . . . 767
RHEUMATO LO GY
136 Psoriasis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 773
172 Juvenile Idiopathic Athritis . . . . . . . . . . . . . . . . . . . . . . 990
137 Pityriasis Rosea . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 786
173 Lupus—Systemic and Cutaneous . . . . . . . . . . . . . . . . . . 995
138 Lichen Planus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 791
174 Juvenile Dermatomyositis . . . . . . . . . . . . . . . . . . . . . . 1003
139 Lichen Nitidus and Lichen Striatus . . . . . . . . . . . . . . . . . 797
175 Henoch Schonlein Purpura . . . . . . . . . . . . . . . . . . . . . 1012
Se ct io n 9: Be nig n Ne o p lasms
176 Periodic Fever Syndromes . . . . . . . . . . . . . . . . . . . . . . 1018
140 Juvenile Xanthogranuloma . . . . . . . . . . . . . . . . . . . . . . 803
177 Kawasaki Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1023
141 Keloids . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 807
178 Scleroderma and Morphea. . . . . . . . . . . . . . . . . . . . . . 1029
142 Pyogenic Granuloma . . . . . . . . . . . . . . . . . . . . . . . . . . 812
Se ct io n 10: Ne vi and Me lano ma
PART 16
143 Benign Nevi. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 817
144 Congenital Nevi . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 824 INFECTIO US DISEASES
145 Epidermal Nevi and Nevus Sebaceous . . . . . . . . . . . . . . . 831 179 Gastrointestinal Infections
146 Dysplastic Nevus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 837 (Including Diarrhea) . . . . . . . . . . . . . . . . . . . . . . . . . . 1038
147 Pediatric Melanoma . . . . . . . . . . . . . . . . . . . . . . . . . . . 842 180 Gonococcal Infections. . . . . . . . . . . . . . . . . . . . . . . . . 1046
Se ct io n 11: In lt rat ive Immuno lo g ic 181 Syphilis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1050
148 Granuloma Annulare. . . . . . . . . . . . . . . . . . . . . . . . . . . 851 182 Pediatric Human Immunode ciencyVirus (HIV)
Infection . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1057
149 Pyoderma Gangrenosum . . . . . . . . . . . . . . . . . . . . . . . . 856
183 Lyme Disease. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1063
150 Pediatric Sarcoidosis . . . . . . . . . . . . . . . . . . . . . . . . . . . 861
184 Epstein Barr Virus Infections (Infectious
Se ct io n 12: Hyp e rse nsit ivit y Synd ro me s
Mononucleosis) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1068
and Drug Re act io ns
185 Toxic Shock Syndromes. . . . . . . . . . . . . . . . . . . . . . . . 1074
151 Erythema Multiforme, Stevens-Johnson Syndrome,
and Toxic Epidermal Necrolysis . . . . . . . . . . . . . . . . . . . 867 186 Pediatric Tuberculosis . . . . . . . . . . . . . . . . . . . . . . . . . 1080
152 Erythema Nodosum . . . . . . . . . . . . . . . . . . . . . . . . . . . 873 187 Congenital and Perinatal Infections . . . . . . . . . . . . . . . . 1091
153 Vasculitis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 877 188 Zoonoses . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1099
154 Cutaneous Drug Reactions . . . . . . . . . . . . . . . . . . . . . . 884
Se ct io n 13: Bullo us Dise ase PART 17
155 Chronic Bullous Disease of Childhood. . . . . . . . . . . . . . . 892 ENDO CRINO LO GY
156 Pemphigus. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 898 189 Diabetes Overview . . . . . . . . . . . . . . . . . . . . . . . . . . 1108
157 Other Bullous Diseases . . . . . . . . . . . . . . . . . . . . . . . . . 904 190 Acanthosis Nigricans . . . . . . . . . . . . . . . . . . . . . . . . . 1112
Se ct io n 14: Hair and Nail Co nd it io ns 191 Hypothyroidism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1116
158 Alopecia Areata . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 910 192 Hyperthyroidism . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1123
159 Traction Alopecia and Trichotillomania . . . . . . . . . . . . . . 915 193 Hyperlipidemia and Xanthomas . . . . . . . . . . . . . . . . . . 1129
160 Normal Nail Variants . . . . . . . . . . . . . . . . . . . . . . . . . . 919 194 Obesity. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1136
161 Pigmented Nail Disorders . . . . . . . . . . . . . . . . . . . . . . . 925 195 Cushing Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . 1143
162 Ingrown Toenail . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 930 196 Addison’s Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1148
163 Onychomycosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 934 197 Congenital Adrenal Hyperplasia . . . . . . . . . . . . . . . . . . 1151
164 Paronychia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 940 198 Rickets . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1155
165 Psoriatic Nails . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 944 199 Delayed Puberty . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1161
166 Subungual Hematoma . . . . . . . . . . . . . . . . . . . . . . . . . . 948 200 Precocious Puberty . . . . . . . . . . . . . . . . . . . . . . . . . . 1166
CO NTENTS
x
PART 18 218 B-cell Immunode ciencies . . . . . . . . . . . . . . . . . . . . . . 1253

219 B and T Cell Immunode ciencies—Severe Combined
NEURO LO GY Immunode ciency (SCID) and Other Well De ned Primary
201 Headache . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1172 Immunode ciencies. . . . . . . . . . . . . . . . . . . . . . . . . . . 1259
202 Bell’s Palsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1176 220 Chronic Granulomatous Disease . . . . . . . . . . . . . . . . . . 1267
203 Subdural Hematoma . . . . . . . . . . . . . . . . . . . . . . . . . . 1179
204 Cerebral Vascular Accident. . . . . . . . . . . . . . . . . . . . . . 1182 PART 21
205 Tuberous Sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . 1186
206 Neuro bromatosis . . . . . . . . . . . . . . . . . . . . . . . . . . . 1192
GENETIC DISO RDERS
221 Down Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1274
207 Sturge-Weber Syndrome . . . . . . . . . . . . . . . . . . . . . . . 1197
222 Turner Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1279
208 Duchenne Muscular Dystrophy . . . . . . . . . . . . . . . . . . 1202
223 Marfan syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1283
224 Ehler Danlos syndrome . . . . . . . . . . . . . . . . . . . . . . . . 1289
PART 19
225 Osteogenesis Imperfecta . . . . . . . . . . . . . . . . . . . . . . . 1293
HEMATO LO GY-O NCO LO GY 226 Noonan syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . 1298
209 Iron De ciency Anemia. . . . . . . . . . . . . . . . . . . . . . . . 1210 227 PHACE Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . 1302
210 Immune Thrombocytopenia Purpura. . . . . . . . . . . . . . . 1214 228 Incontinentia Pigmenti. . . . . . . . . . . . . . . . . . . . . . . . . 1308
211 Sickle Cell Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . 1219
212 Neuroblastoma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1225 PART 22
213 Wilms Tumor . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1229
214 Langerhans Cell Histiocytosis. . . . . . . . . . . . . . . . . . . . 1233
SUBSTANCE ABUSE
229 Substance Abuse Disorder . . . . . . . . . . . . . . . . . . . . . . 1314
PART 20 APPENDIX
A Interpreting Evidence-Based Medicine (EBM) . . . . . . . . . 1320
ALLERGY AND IMMUNO LO GY B Topical and Intralesional Corticosteroids . . . . . . . . . . . . 1323
215 Allergic rhinitis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1238
216 DiGeorge syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . 1243
217 Primary Ciliary Dyskinesia . . . . . . . . . . . . . . . . . . . . . . 1249 Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1327
CO NTRIBUTO RS xi
Nazha Ab ug hali, MD Marjan At t aran, MD

Department of Pediatrics The Cleveland Clinic
Metrohealth Medical Center Womens’ Health Institute
Case Western Reserve University Head Pediatric and Adolescent Gynecology
Cleveland, Ohio Cleveland, Ohio
Sho g hik Ako g hlanian, MD He nd Azhary, MD
Fellow, Pediatric Rheumatology Assistant Professor
University Hospitals Case Medical Center Department of Family Medicine
Rainbow Babies & Children’s Hospital Michigan State University College of Human Medicine
Cleveland, Ohio East Lansing, Michigan
So p hia Ali, MD Pe t e r Aziz, MD
Department of Pediatric Gastroenterology and Hepatology Pediatric Electrophysiology
Cleveland Clinic Children’s Department of Pediatric Cardiology
Cleveland, Ohio Cleveland Clinic Children’s
Cleveland, Ohio
Naim Alkho uri, MD
Department of Pediatric Gastroenterology and Hepatology Michae l Bab co ck, MD
Cleveland Clinic Children’s Colorado Springs Dermatology Clinic
Cleveland, Ohio Colorado Springs, Colorado
Anna Allre d , MD Ke it h Bachmann, MD
Resident Physician Orthopedic Surgery Resident
Department of Neurological Surgery Department of Orthopedic Surgery
University of Texas South Western Medical Center Cleveland Clinic
Dallas, Texas Cleveland, Ohio
Ho ma Amini, DDS, MPH, MS Yo o n-So o Cind y Bae -Harb o e , MD
Postdoctoral Program Director and Associate Professor of Pediatric Boston University Hospital
Dentistry Medical Center Department of Dermatology
Division of Pediatric Dentistry and Community Oral Health Boston, Massachusetts
The Ohio State University and Nationwide Children’s Hospital
R. Tracy Ballo ck, MD
Columbus, Ohio
Department of Orthopedic Surgery
J ame s And e rst , MD, MS Cleveland Clinic
Division of Child Abuse and Neglect Cleveland, Ohio
Associate Professor
Luke Baud o in, MD
Children’s Mercy Hospital
Associate Professor of Family Medicine
UMKC School of Medicine
LSUHSC Shreveport
Kansas City, Missouri
Shreveport, Louisiana
Samant ha Anne , MD, MS Rut h E. Be rg g re n, MD
Assistant Professor of Surgery
Professor of Medicine
Pediatric Otolaryngology
Division of Infectious Diseases
Head & Neck Institute, Cleveland Clinic
University of Texas Health Science Center
Cleveland, Ohio
San Antonio, Texas
Elumalai Ap p achi, MD, MRCP St e ve n N. Bie nve nu, MD, FAAP
Department of Pediatric Critical Care
Associate Clinical Professor of Pediatrics
Cleveland Clinic Children’s
Chief, Section of Ambulatory Care
Cleveland, Ohio
Director, LSU Children’s Clinic
Swat hi Ap p achi, BS Department of Pediatrics
Medical Student Louisiana State University Health Sciences Center
Cleveland Clinic Lerner College of Medicine Shreveport, Louisiana
Case Western Reserve University
J ame s R. Bo ynt o n, DDS, MS
Cleveland, Ohio
Clinical Associate Professor and Director
Pediatric Dentistry
Department of Orthodontics and Pediatric Dentistry
University of Michigan School of Dentistry
Ann Arbor, Michigan
CO NTRIBUTO RS
xii
Alliso n W. Brind le , MD J o shua Rai Clark, MD

Staff Pediatrician Family Medicine House Of cer 2
Department of General Pediatrics Louisiana State University Health Sciences Center
Cleveland Clinic Children’s Shreveport, Louisiana
Cleveland, Ohio
Sig rid M Co llie r, MD
Marg are t L. Burks, MD Med Derm Resident
Student Af liate School of Medicine University of Minnesota
University of Texas Health Science Center at San Antonio Minneapolis, Minnesota
San Antonio, Texas
Tho mas J . Co rso n, DO
Timo t hy Camp b e ll, MD Emergency Medicine Resident
Allergy and Immunology Fellow University of Connecticut School of Medicine
Cleveland Clinic Hartford Hospital
Cleveland, Ohio Hartford, Connecticut
Ke vin Carlisle , MD Lara Danzig e r-Isako v, MD, MPH
Resident Associate Professor of Pediatrics
Department of Family Medicine Division of Infectious Disease
Louisiana State University Cincinnati Children’s Hospital Medical Center
Shreveport, Louisiana Cincinnati, Ohio
Nancy Carst , MSW Kshama Dap ht ary, MBBS, MD, FAAP
Nancy Carst, MSW Department of Pediatric Critical Care
Bereavement Specialist Cleveland Clinic Children’s
Haslinger Family Center for Pediatric Palliative Care Cleveland, Ohio
Akron Children’s Hospital
J o hn DiFio re , MD
Akron, Ohio
Department of Pediatric Surgery
J ulie Ce rnane c, MD, FAAP Cleveland Clinic Children’s
Julie Cernanec, MD FAAP Cleveland, Ohio
Department of Pediatric Hospital Medicine
Gre g o r Dücke rs, MD
Helios Clinic Krefeld Children’s Hospital
Cleveland, Ohio
Department for Pediatric Immunology
Me lissa M. Chan, MD Krefeld, Germany
Family Practicioner
David S. Eb e ne ze r, MD
Sutter East Bay Medical Foundation
Department of Orthopaedic Surgery
Albany, California
Cleveland Clinic
Pie rre Chano ine , MD Cleveland, Ohio
Drexel University School of Medicine
Brian Elkins, MD
Philadelphia, Pennsylvania
Associate Professor of Clinical Family Medicine
St. Christopher’s Hospital for Children
LSU Health Sciences Center
Philadelphia, Pennsylvania
Department of Family Medicine and Comprehensive Care
Alia Chauhan, MD, FAAP Shreveport, Louisiana
Assistant Professor
Kat harine Eng , MD
Department of Pediatrics
Department of Pediatric Gastroenterology and Hepatology
Hofstra North Shore-LIJ School of Medicine
New Hyde Park, NewYork
Cleveland, Ohio
De b b y Chuang , MD Gavin A. Falk, MD
Urology Institute
Resident Surgeon
University Hospitals of Cleveland
Department of General Surgery
Cleveland Clinic Foundation
Cleveland, Ohio
Cleveland, Ohio
He id i S. Chumle y, MD
Executive Dean and Chief Academic Of cer
American University of the Caribbean
CO NTRIBUTO RS
xiii
Ang e la M. Fals, MD, FAAP Wand a C. Go nsalve s, MD

Diplomate, American Board of Obesity Medicine Professor and Vice Chair
Medical Director Department of Family and Community Medicine
Florida Hospital for Children University of Kentucky College of Medicine, Lexington, Kentucky
Center for Child and FamilyWellness
Blanca E. Go nzale z, MD
Orlando, Florida
Assistant Professor of Pediatrics
Crist ina Fe rnand e z, MD Center for Pediatric Infectious Diseases
Associate Professor of Pediatrics Cleveland Clinic Children’s
Creighton University Children’s Physicians Medical Director Cleveland, Ohio
HEROES Program, Associate Program Director
Ryan C. Go o d win, MD
UNMC/ Creighton Univeristy/ Children’s Hospital and Medical
Center Director, Pediatric Orthopaedics and Scoliosis Surgery
Center, Omaha, Nebraska
Fellowship Director, Pediatric Orthopaedics and Scoliosis Surgery
Lind se y B. Finkle a, MD Associate Residency Program Director
Dermatologist Department of Orthopedic Surgery
San Antonio, Texas Cleveland Clinic
Cleveland, Ohio
Aro n Flag g , MD
Department of Pediatric Hematology and Oncology Elizab e t h Sut t o n Go sne ll, DMD, MS
Cleveland Clinic Children’s Assistant Professor of Clinical Dentistry
Cleveland, Ohio Director, Pre-Doctoral Pediatric Dentistry
The Ohio State University College of Dentistry
Ant ho ny To d d Flo we rs, MD Nationwide Children’s Hospital
Family Physician
Columbus, Ohio
Louisiana State University Health Sciences Center
Shreveport, Louisiana Ke lly Gre e n, MD
Ophthalmology, Private Practice
Charle s B. Fo st e r, MD Marble Falls Texas
Associate Professor of Pediatrics
Clinical Assistant Professor
Center for Pediatric Infectious Diseases
Department of Ophthalmology
University of Texas Health Science Center
Cleveland, Ohio
San Antonio, Texas
Ke lli He jl Fo ulkro d , MS J ust in Gre iwe , MD
Psychotherapist/ YogaTeacher
Allergy and Immunology Fellow
Psychology Center of Austin
Cleveland Clinic
Austin, Texas
Cleveland, Ohio
J e re my A. Franklin, MD He at he r M. Guillo t , MD
Director, Medical Sciences
Assistant Professor of Clinical Family Medicine
MedImmune LLC.
LSU Health Sciences Center
Lubbock, Texas
Department of Family Medicine and Comprehensive Care
Sarah Frie b e rt , MD Shreveport, Louisiana
Director
David Gurd , MD
Haslinger Family Center for Pediatric Palliative Care
Director of Pediatric Spinal Deformity
Staff Physician, Department of Orthopedic Surgery
Akron, Ohio
Cleveland Clinic
Ne il Frie d man, MBChB Cleveland, Ohio
Pediatric Neurologist
Me re d it h Hanco ck, MD
Staff Physician, Center for Pediatric Neurology
Preliminary Resident Internal Medicine
Neurological Institute
Loyola University Medical Center
Cleveland Clinic
Maywood, Illinois
Cleveland, Ohio
J immy H. Hara, MD, FAAFP
Kimb e rly Giuliano , MD Professor of Clinical Family Medicine
Assistant Professor of Pediatrics
David Geffen School of Medicine at UCLA
Department of General Pediatrics
Los Angeles, California
Cleveland, Ohio
CO NTRIBUTO RS
xiv
Tara Harwo o d , MS, RD, CSP, LD Ed ward A. J ackso n, MD

Pediatric Dietitian Covenant Medical Group
Cleveland Clinic Children’s Saginaw Medicine
Cleveland, Ohio Clinical Professor of Family Medicine
Michigan State University College of Human Medicine
Kare n Hawle y, MD Hemlock, Michigan
Otolaryngology, Resident Physician
Head and Neck Institute Me g han Drayt o n J ackso n, DO
Cleveland Clinic Chief Pediatric Resident
Cleveland, Ohio
J o hn H. Hayne s, J r., MD
Family Physician Halima S. J anjua, MD
Rural Family Practice Program Director Center for Pediatric Nephrology
Chief of Staff, North Caddo Medical Center Cleveland Clinic Children’s
Vivian, Louisianna Cleveland, Ohio
David He nd e rso n, MD Ad e liza J ime ne z, MD
Associate Dean, Medical Student Affairs Staff Physician
Associate Professor Southern California Permanente Medical Group
Department of Family Medicine Downey, California
University of Connecticut School of Medicine
Bro o ke J o hnst o n, MD
Farmington, Connecticut
Fellow
Nat han Hit ze man, MD Haslinger Family Center for Pediatric Palliative Care
Faculty, Sutter Health Family Medicine Residency Program Akron Children’s Hospital
Sacramento, California Akron, Ohio
J anale e Ho lme s, MD Skyle r Kalad y, MD
Resident Physician Assistant Professor of Pediatrics
Head and Neck Institute Department of General Pediatrics
Cleveland Clinic Cleveland Clinic Lerner College of Medicine of Case Western
Cleveland, Ohio Reserve University,
Ashle y D. Ho p kins, MD Cleveland, Ohio
Fellow
Child Abuse Pediatrics J o nat han B. Karne s, MD
The Children’s Mercy Hospital Assistant Clinical Professor
Kansas City, Missouri Dartmouth School of Medicine
Main Dartmouth Family Medicine Residency
Anne Hse u, MD Augusta, Maine
Head and Neck Institute
Cleveland Clinic J e nnife r A. Ke e hb auch, MD, FAAFP
Cleveland, Ohio Director of Research, Graduate Medical Education
Florida Hospital
Kare n A. Hug he s, MD Assistant Director, Family Medicine, Residency, Florida Hospital
Associate Director
Director, Women’s Medicine Fellowship, Florida Hospital
North Mississippi Center Family Medicine Residency Program
Orlando, Florida
Tupelo Mississippi
Nancy D. Ke llo g g , MD
Khalilah Hunt e r-And e rso n, MD Professor of Pediatrics
Assistant Professor
Chief, Division of Child Abuse
Department of Traumatology & Emergency Medicine
Unitersity of Texas Health Science Center at San Antonio
University of Connecticut Health Center
San Antonio, Texas
Farmington, Connecticut
Amo r Khache mo une , MD
Sab ine Ib e n, MD Attending Physician, Dermatologist
Assistant Professor
Mohs Surgeon and Dermatopathologist
Department of Neonatology
Veterans Affairs Medical Center
Pediatric Institute
Brooklyn, NewYork
Cleveland, Ohio
CO NTRIBUTO RS
xv
J o e l Ko lmo d in, MD Lo ri A. Mahajan, MD

Resident, Department of Orthopedic Surgery Fellowship Director
The Cleveland Clinic Department of Pediatric Gastroenterology
Cleveland, Ohio
Cat he rine Ko wale wski, DO
Assistant Chief of Dermatology STVHCS Amara Maje e d , MBBS
Assistant Professor Dermatology The Aga Khan University Medical College,
University of Texas San Antonio Karachi, Pakistan
San Antonio, Texas
Prashant Malho t ra, MD, FAAP
Ro b e rt Kraft , MD Prashant Malhotra, MD, FAAP
Clinical Assistant Professor Department of Otolaryngology Head and Neck Surgery
Department of Family and Community Medicine Nationwide Children’s Hospital
University of Kansas School of Medicine Assistant Professor, Ohio State University
Wichita, Wichita, Kansas Columbus, Ohio
Paul Krako vit z, MD Brid g e t Malit , MD
Vice Chairman Surgical Operations Pediatric Resident
Section Head of Pediatric Otolaryngology Department of Pediatrics
Head and Neck Institute Weil Cornell Medical College
Cleveland Clinic NewYork, NewYork
Cleveland, Ohio
David Mand e ll, MD
J e nnife r Kre jci-Mannwaring , MD Clinical Associate Professor
Assistant Professor NOVA Southestern University College of Osteopathic Medicine
Division of Dermatology Division of Otolaryngology
University of Texas Health Science Center at San Antonio Davie, Florida
San Antonio, Texas
And re as Marco t t y, MD
Asho k Kumar, DDS, MS Assistant Clinical Professor
Associate Professor of Pediatric Dentistry Cleveland Clinic Lerner School of Medicine
Division of Pediatric Dentistry and Community Oral Health Cole Eye Institute, Cleveland Clinic
The Ohio State University and Nationwide Children’s Hospital Section, Pediatric Ophthalmology
Columbus, Ohio Cleveland, Ohio
Charle s Y. Kwo n, MD Michae la R. Mare k, MD
Center for Pediatric Nephrology Dermatology Resident
Cleveland Clinic Children’s University of Texas Health Sciences Center
Cleveland, Ohio San Antonio, Texas
Kat he rine B. Le e , MD Miche lle Marks, DO , FAAP, FHM
Assistant Professor of Surgery Chair, Department of Pediatric Hospital Medicine
Cleveland Clinic Lerner College of Medicine of Cleveland Clinic Children’s
Case Western Reserve University Cleveland, Ohio
Cleveland Clinic Breast Center
Nat han Sco t t Mart in, MD
Cleveland Clinic
Chief Resident in Emergency Medicine/ Family Medicine Combined
Cleveland, Ohio
Program
J o se Lo zad a, MD LSU Health Sciences Center
Resident – General Surgery Shreveport, Louisiana
Cleveland Clinic
Rae d Bo u Mat ar, MD
Cleveland, Ohio
Center for Pediatric Nephrology
Me g ha Mad hukar, MD Cleveland Clinic Children’s Hospital
Resident Cleveland, Ohio
Department of Radiology
J e ssie Maxwe ll, MD
Penn State Hershey Radiology
Department of Pediatrics
Hershey, Pennslyvania
Metrohealth Medical Center,
Cleveland, Ohio
CO NTRIBUTO RS
xvi
Rachna May, MD FAAP Lisanne Ne wt o n, MD

Department of Pediatric Hospital Medicine Department of Allergy and Immunology
Cleveland Clinic Children’s Cleveland Clinic Children’s
E.J . Maye aux, J r., MD, DABFP, FAAFP Tim Nie hue s, MD
Professor and Chairman Professor of Pediatrics
Department of Family and Preventive Medicine Helios Clinic Krefeld Children’s Hospital
Professor of Obstetrics and Gynecology Department for Pediatric Immunology
University of South Carolina School of Medicine Krefeld, Germany
Columbia, South Carolina
Ve ra O kwu, MD
Maria D. McCo lg an, MD Department of Pediatric Gastroenterology
Assistant Professor Cleveland Clinic Children’s
Departments of Pediatrics and Emergency Medicine Cleveland, Ohio
Director, Child Protection Program
Kyra O sb o rne , MD
Drexel University College of Medicine
Otolaryngology, Resident Physician
Philadelphia, Pennslyvania
St acy McCo nke y, MD, FAAP Cleveland Clinic
Pediatric Residency Program Director Cleveland, Ohio
Florida Hospital for Children
Asif Pad iyat h, MD
Orlando, Florida
Pediatric Resident
Caro lyn Milana, MD Cleveland Clinic Children’s
Assistant Professor of Pediatrics Cleveland, Ohio
Stony Brook Long Island Children’s Hospital
Rit a Pap p as, MD, FAAP, FHM
Stony Brook, NewYork
Staff, Department of Pediatric Hospital Medicine
William A. Mille r, MD, MPH, MSc Cleveland Clinic Children’s
Resident Physician Cleveland, Ohio
Department of Neurological Surgery
Elle n Park, MD
University of Texas Southwestern Medical Center
Department of Pediatric Radiology
Dallas, Texas
Shashi Mit t al, MD Cleveland, Ohio
Family Physician
Nisha Pat e l, MD
MedFirst Northeast Primary Care Clinic
Department of Pediatric Gastroenterology and Hepatology
San Antonio, Texas
Arunkumar Mo d i, MD MPH Cleveland, Ohio
Department of Pediatric Hematology and Oncology
De nise Po we rs-Fab ian, MSSA, LISW-S
Social Worker
Cleveland, Ohio
Haslinger Family Center for Pediatric Palliative Care
J o nat han Mo se s, MD Akron Children’s Hospital
Department of Pediatric Gastroenterology Akron, Ohio
Mat t he w Prine , MD
Cleveland, Ohio
Chief Resident
Me lissa Muszynski, MD Rural Family Practice Program
Resident, Department of Dermatology Louisiana State University Health Sciences Center
Georgetown University Hospital Shreveport, Louisania
Washington Hospital Center, Washington DC
At har M. Q ure shi, MD
To d d D. Ne b e sio , MD Associate Director
Associate Professor of Clinical Pediatrics CE Mullins Catheterization Laboratories
Department of Pediatrics Texas Children’s Hospital,
Section of Pediatric Endocrinology/ Diabetology Associate Professor of Pediatrics
Indiana University School of Medicine Baylor College of Medicine
Riley Hospital for Children Houston, Texas
Indianapolis, Indiana
CO NTRIBUTO RS
xvii
Kart hik Rajase karan, MD Paula Sab e lla, MD, FAAP

Head and Neck Institute Assistant Professor of Pediatrics
Cleveland Clinic Department of Emergency Medicine
Cleveland, Ohio Akron Children’s Hospital
Akron, Ohio
Vid ya Raman, MD
Assistant Professor Paul M. Saluan, MD
Section of Pediatric Rheumatology Director, Pediatric and Adolescent Sports Medicine
Nationwide Children’s Hospital Department of Orthopaedic Surgery
Columbus, Ohio Cleveland Clinic
Cleveland, Ohio
Rache l M. Rand all
Center for Pediatric Orthopaedics M. J aso n Sand e rs, MD
Orthopaedic and Rheumatology Institute Assistant Professor
Cleveland Clinic Division of Community and General Pediatrics
Cleveland, Ohio Department of Pediatrics
UT Health Medical School at Houston
Brian Z. Rayala, MD Houston, Texas
Assistant Professor
Department of Family Medicine Khashayar Sarab i, MD
University of North Carolina School of Medicine Internal & Integrative Medicine
Chapel Hill, North Carolina Irvine, California
Samiya Razvi, DCH, MD Re b e cca Sche in, MD
Pediatric Pulmonologist Pediatric Infectious Diseases
Department of Pediatrics Department of Pediatrics
Apollo Hospitals, Jubilee Hills MetroHealth Medical Center
Hyderabad, India Cleveland, Ohio
Kat ie Re p p a, MD Me lissa A. Scho le s, MD
Resident Assistant Professor Pediatric Otolaryngology
University of Pittsburgh Department of Otolaryngology
Pittsburgh, Pennsylvania University of Colorado
Aurora, Colorado
O lvia Re ve lo , MD
Family Physician Brian Schro e r, MD
Houston, Texas Associate Professor of Pediatrics
Lerner College of Medicine Cleveland Clinic
Pe t e r Re ve naug h, MD Staff Pediatrics and Respiratory Institutes, Cleveland Clinic
Cleveland, Ohio
Cleveland Clinic
Cleveland, Ohio Emily Gale Sco t t , MD
Pediatric Emergency Medicine Attending Physician
Karl T. Re w, MD Medical Director, Suture Program
Assistant Professor of Family Medicine and Urology
University of Michigan Medical School
Akron, Ohio
Ann Arbor, Michigan
Ad riana Se g ura DDS, MS
Paul J . Rychwalski, MD Professor
Associate Professor of Ophthalmology and Pediatrics
Department of Comprehensive Dentistry
Cleveland Clinic Lerner College of Medicine
Associate Dean for Student Affairs
University of Texas Health Science Center at San Antonio
Staff Ophthalmologist
Dental School
Cole Eye Institute, Cleveland Clinic
San Antonio, Texas
Cleveland, Ohio
Fe d e rico G. Se ifart h, MD
Camille Sab e lla, MD Department of Pediatric Surgery
Associate Professor of Pediatrics
Vice Chair for Education, Pediatric Institute
Cleveland, Ohio
Center for Pediatric Infectious Diseases
Cleveland, Ohio
CO NTRIBUTO RS
xviii
And re w She d d , MD J ulie Sco t t Taylo r, MD, MSc

Emergency Medicine Resident Associate Professor of Family Medicine
Department of Emergency Medicine Director of Clinical Curriculum
Advocate Christ Medical Center Alpert Medical School of Brown University
Oak Lawn, Illimois Providence, Rhode Island
Arun Sing h, MD St e p he n Taylo r, MD
Director, Ophthalmic Oncology Associate Professor of Family Medicine
Cole Eye Instiute Louisiana State University Health Sciences Center
Cleveland Clinic Family Medicine Rural Track
Cleveland, Ohio Shreveport, Louisiana
Ab d ul-Karim Sle iman Danyal Thave r, MBBS
Faculty of Medicine and Medical Center Otolaryngology, Resident Physician
American University of Beirut Head and Neck Institute
Beirut, Lebanon Cleveland Clinic
Cleveland, Ohio
Mind y A. Smit h, MD, MS
Clinical Professor, Department of Family Medicine Sarat Thikkurissy, DDS, MS
Michigan State University Professor & Director, Residency Program
East Lansing, Michigan Department of Pediatric Dentistry and Orthodontics
Deputy Editor, Essential Evidence Plus Cincinnati Children’s Hospital
Associate Medical Editor, FP Essentials Cincinnati, Ohio
Lind a M. Sp e e r, MD St e fanie Tho mas, MD
Professor and Chair Department of Family Medicine Department of Pediatric Hematology and Oncology
University of Toledo, College of Medicine and Life Sciences Cleveland Clinic Children’s
Toledo, Ohio Cleveland, Ohio
Ant ho ny St allio n, MD Marg are t C. Tho mp so n, MD, PhD
Chief of Pediatric Surgery Department of Pediatric Hematology and Oncology
Pediatric Surgeon-in-Chief Cleveland Clinic Children’s
Levine Children’s Hospital Cleveland, Ohio
Jeff Gordon Children’s Hospital
Carla To rre s-Ze g arra, MD
Carolinas Healthcare System
Chief Pediatric Resident
Concord, North Carolina
The Pediatric Institute
Ahila Sub ramanian, MD, MPH Cleveland Clinic Children’s
Allergy and Immunology Fellow Cleveland, Ohio
Cleveland Clinic
Elias I. Trab o ulsi, MD
Cleveland, Ohio
Head, Department of Pediatric Ophthalmology and Strabismus
Di Sun, BS, MPH Director, The Center for Genetic Eye Diseases
Cleveland Clinic Lerner College of Medicine Cole Eye Institute
Case Western Reserve University Cleveland Clinic
J o an Tamb urro , DO Vict o r E. Uko , MD
Pediatric Dermatology Staff Department of Pediatric Gastroenterology
The Dermatology and Plastic Surgery Institute Cleveland Clinic Children’s
Cleveland Clinic Cleveland, Ohio
Cleveland, Ohio
Richard P. Usat ine , MD
Dimit ris N. Tat akis, DDS, PhD Professor of Family and Community Medicine
Diplomate, American Board of Periodontology Professor of Dermatology and Cutaneous Surgery
Professor and Director, Advanced Education Program in Periodontics Assistant Director, Medical Humanities Education
Division of Periodontology, College of Dentistry, The Ohio State University of Texas Health Science Center at San Antonio
University Medical Director, Skin Clinic, University Health System
Columbus, Ohio San Antonio, Texas
CO NTRIBUTO RS
xix
Ne il Vachhani, MD Brian Williams, MD

Chair, Section of Pediatric Radiology Brian J. Williams Dermatology, Private Practice
Cleveland Clinic Children’s Midvale, Utah
Cleveland, Ohio
Lynn L. Wo o , MD
Erne st Vald e z, DDS Assistant Professor of Pediatric Urology
Assistant Professor Case Western ReserveUniversity
Department of Oral and Maxillofacial Surgery Rainbow Babies & Children’s Hospital
The University of Texas Health Science Center at San Antonio University Hospitals of Cleveland
San Antonio, Texas Cleveland, Ohio
Frit s van d e r Kuyp , MD Mat t he w Wyne ski, MD
Department of Medicine Department of Pediatric Gastroenterology and Hepatology
Metrohealth Medical Center, Cleveland Clinic Children’s
Case Western Reserve University Cleveland, Ohio
Cleveland, Ohio
Co ng jun Yao , MD
Alliso n Vid imo s, MD Adjunct Assistant Professor
Dermatology Department Chair and Dermatology staff Department of Family and Community Medicine
The Dermatology and Plastic Surgery Institute University of Texas Health Science Center
Cleveland Clinic San Antonio, Texas
Cleveland, Ohio
Dawo o d Yuse f, MD
Ho lly H. Vo lz, MD Center for Pediatric Infectious Diseases
Resident Physician Cleveland Clinic Children’s
The University of Texas Health Science Center at San Antonio Cleveland, Ohio
San Antonio, Texas
Ab b as H. Zaid i, MB, BS
Eug e ne K. Vo rt ia, MD Senior Clinical Fellow Cardiology
Department of Pediatric Gastroenterology Department of Cardiology
Cleveland Clinic Children’s Boston Children’s Hospital
Cleveland, Ohio Boston, MA
Yu Wah, MD And re w Ze ft , MD, MPH
Assistant Professor Center for Pediatric Rheumatology
Department of Family and Community Medicine Cleveland Clinic Children’s
University of Texas Health Science Center at Houston Cleveland, Ohio
Houston, Texas
PREFACE xxi
Pediatricians see a wide variety of genetic and congenital disorders, and digital photography. The core of the book focuses on medical con-
infections, skin conditions, and many other problems that span the ditions organized by anatomic and physiologic systems. This book cov-
pediatric spectrum. It is clear that a comprehensive atlas that aids in ers healthcare from birth to adulthood. There are special sections
diagnosis using visible signs and internal imaging will be of tremen- devoted to the essence of pediatrics, physical/ sexual abuse, newborn
dous value. We have assembled more than 1,900 outstanding clinical and adolescent health, dermatology, and genetic disorders.
images for this very purpose and are proud to present the rst edition The collection of clinical images is supported by evidence-based
of a modern comprehensive atlas of pediatrics. Some photographs information that will help the healthcare provider diagnose and man-
will amaze you and all will inform you about the various conditions age a wide spectrum of common and not so common pediatric prob-
that befall our patients. lems. The text is concisely presented with many easy to access bullets
It took a number of people many years to create the rst edition of as a quick point-of-care reference. Each chapter begins with a patient
The Color Atlas of Pediatrics. For us, it has been a life long inspired by story that ties the photographs to the real life stories of our patients.
many great mentors, who taught us the importance of physical exami- The photographic legends are also designed to connect the images to
nation ndings in caring for our patients. We have been fortunate to the people and their human conditions. Strength of recommendation
compile many photographs of our patients over the years, which we ratings are cited throughout so that the science of medicine can be
have used to teach medical students and residents. We now have the blended with the art of medicine for optimal patient care.
honor of sharing these images with the readers of this atlas. We are The rst edition of The Color Atlas of Pediatrics is available electroni-
grateful to the many outstanding contributors to this textbook who cally on iPad, iPhone, iPod touch, all Android devices, Kindle, and on
have unsel shly shared with us their patient stories and images, and the web through Access Pediatrics. These electronic versions will
their vast knowledge of the disease processes, which has allowed us to allow healthcare providers to access the images and the content
compile this truly comprehensive pediatric atlas. rapidly and at the point-of-care.
The Color Atlas of Pediatrics is written for pediatricians and all health- Because knowledge continues to advance after any book is written,
care providers involved in providing care to children and adolescents. we recommend that you use the online resources presented in many
It can be invaluable to medical students, residents, nurse practitio- of the chapters to keep up with the most current changes in medicine.
ners, physician assistants, family physicians and dermatologists. Care deeply about your patients and enjoy your practice, as it is a
The Color Atlas of Pediatrics is also for anyone who loves to look at privilege to be a healthcare provider and healer.
clinical photographs for learning, teaching, and practicing medicine. The Editors
The rst chapter begins with an introduction to learning with images
St re ng t h o f
Re co mme nd at io n
(SO R) De nit io n
A Re comme nd ation b ase d on consiste nt and g ood -q uality p atie nt-orie nte d e vid e nce .*
B Re comme nd ation b ase d on inconsiste nt or limite d -q uality p atie nt-orie nte d e vid e nce .*
C Re comme nd ation b ase d on conse nsus, usual p ractice , op inion, d ise ase -orie nte d e vid e nce ,
or case se rie s for stud ie s of d iag nosis, tre atme nt, p re ve ntion, or scre e ning .*
*Se e Ap p e nd ix A on p ag e s 1320–1322 for furthe r information.

ACKNO WLEDGMENTS xxiii
This book could not have been completed without the contributions this book. While some photos are not recognizable, we have many
of many talented physicians, healthcare professionals, and photogra- photos of the full face that are very recognizable and were generously
phers. We received photographs from people who live and work given to us by our patients with full written permission to be pub-
across the globe. Each photograph is labeled and acknowledges the lished as is. For photographs that were taken decades ago in which
photographer and contributor. There are some people who contrib- written consents were no longer available, we have used bars across
uted so many photographs it is appropriate to acknowledge them up- the eyes to make the photos less recognizable—verbal consent was
front in the book. The dermatology division at University Of Texas always obtained for these images.
Health Sciences Center San Antonio contributed much of their exper- I (Dr. Richard Usatine) thank my family for giving me the support to
tise in photography, writing, and reviewing the extensive dermatol- see this book through. It has taken much time from my family life and
ogy section. During the last few years, I was fortunate to work closely my family has supported me through the long nights and weekends it
with the dermatology faculty and residents and they contributed gen- takes to write a book while continuing to practice and teach medicine. I
erously to our book. Dr. Eric Kraus, the program director, gave us am fortunate to have a loving wife, wonderful daughter, successful son,
many wonderful photographs, especially for the section on bullous great son-in-law and one very cute grandson who add meaning to my
diseases. He also gave us open access to the 35-mm slides collected by life and allowed me to work hard on the creation of this Color Atlas. I
the Division of Dermatology. Drs. Jeff Meffert and John Browning also personally want to thank Dr. Camille Sabella for his strong work ethic,
contributed photographs to many chapters. Dr. Jack Resneck, Sr., warmth and good humor during the whole process. It is rare to nd
from Louisiana, scanned his slides from more than 40 years of prac- such superb collaborators in life. In every step of this journey, we
tice and gave them to Dr. E.J. Mayeaux, Jr., for use. Dr. Resneck’s worked together with mutual respect, kindness and consideration.
vast dermatologic experiences add to our atlas. Dr. Camille Sabella would like to thank his wife Paula, and his
The UTHSCSA Head and Neck Department contributed many three children, Carmen, Julia, and Annmarie, for their unwavering
photographs for this book. We especially thank Dr. Frank Miller and support, love, and encouragement. The sense of humor they provided
Dr. Blake Simpson for their contributions. UTHSCSA pediatrics faculty also was instrumental in helping maintain a good balance throughout
contributed to our chapters on child abuse and otitis media. We are for- the process. He would like to personally thank Dr. Richard Usatine
tunate to have Dr. Nancy Kellogg contribute her photographs and for sharing his knowledge, wisdom and experience, and for the self-
expertise in caring for abused children to the book. Dr. Dan Stulberg, a lessness he has shown in creating this Color Atlas. He would also like to
family physician from New Mexico, with a passion for photography and thank his colleagues at the Cleveland Clinic Children’s Hospital for
dermatology, contributed many photographs throughout our book. their dedication to their patients and to the scholarly mission.
We thank our learners, many of whom coauthored chapters with Dr. Mindy Smith adds, “I thank my husband, Gary, and daughter,
us. UTHSCSA medical students and residents and fellows from Jenny, for their support and willingness to listen when I struggle with
Michigan State University’s Primary Care Faculty Development phrasing and wording in my writing and editing. I also thank several
Fellowship program coauthored chapters and contributed photographs colleagues who have helped me to establish myself as an editor and
with great enthusiasm to the creation of this work. It was a pleasure supported my continued growth in this eld—Drs. BarryWeiss, Mark
to mentor these young writers and experience with them the rewards Ebell, Richard Usatine, Suzanne Sorkin, and Leslie Shimp.”
of authorship. Dr. Usatine is thankful for the contributions of his Dr. E.J. Mayeaux would like to thank his wife and family for
“Underserved Dermatology Fellows”. Working closely with such understanding the many hours of work and computer time it takes to
brilliant and caring doctors in our Skin Clinic and free outreach clinics produce this work. He would like to dedicate this work to Mr. Bob
allowed me to learn from them while doing my best to advance their (Papa Bob) Mitchell who can always nd the funny angle to any situa-
academic and humanistic careers. tion and who gave him his partner and love of his life. I would also
Of course, we would have no book without the talented writing and like to thank my new work family at the Department of Family and
editing of my coeditors, Drs. Camille Sabella, Elumalai Appachi, Preventive Medicine at the University of South Carolina School of
Mindy A. Smith, E.J. Mayeaux, and Heidi Chumley. They each bring Medicine in Columbia. We are going to do great things!
years of clinical and educational experience to the writing of the Atlas. Dr. Heidi Chumley adds, “I want to thank my husband, John Delzell,
Drs. Sabella, Appachi and Mayeaux contributed many of their own who has brought love and peace to my often chaotic life, and my
photographs. We also thank the chapter and photograph contributions children, Cullen, Sierra, David, Selene, and Jack, who give me joy and
of the many physicians at the Cleveland Clinic Children’s Hospital. It provide the incentive to stay on task. Each one, in turn, has cheerfully
has been a real pleasure to work with this dedicated group of individu- pitched in to help a grumpy and tired mom who stayed up most of the
als. We thank them for their expertise, perseverance, and devotion to night working on one of many chapters. I have been very blessed.”
teaching. We also want to thank the late Dr. Robert Mercer, one of the Dr Elumalai Appachi states that “I would like to thank all my teach-
founding fathers of pediatrics at the Cleveland Clinic, who was respon- ers and patients who taught me the art of clinical pediatrics and how
sible for the Cleveland Clinic Children’s Hospital Photo Files, and to show compassion for sick children. I want to take this opportunity
whose photos are featured throughout this book. Dr. Mercer was a to recognize my parents who always wanted me to be a physician and
devoted clinician and educator, and we are indebted to him for his conserve sick children. Finally I want to thank my family who has sup-
tributions to the eld of pediatrics. We would like to also recognize ported me to be sane and focused. Finally, I want to thank Camille
Dr. Daniel Shapiro, who was responsible for collecting, safeguarding, Sabella who has given me opportunity to share what I learnt.”
and stressing the use of the photo les for educational purposes. Finally, we all thank James Shanahan, Alyssa Fried and Karen
Most of all we need to thank our patients who generously gave Edmonson from McGraw-Hill for believing in this project and never
their permission for their photographs to be taken and published in giving up as our book grew larger and more comprehensive over time.
PART 1
LEARNING WITH
IMAGES AND DIGITAL
PHO TO GRAPHY
St re ng t h o f
(SO R) De nit io n

PART 1
2 LEARNING WITH IMAGES AND CHAPTER 1
DIGITAL PHO TO GRAPHY
1 AN ATLAS TO ENHANCE
PATIENT CARE, LEARNING,
AND TEACHING
Richard P. Usatine , MD
People only see what they are prepared to see.

—Ralph Waldo Emerson
Whether you are viewing Figure 1-1 in a book, in an aquarium, or

in the sea, you immediately recognize the image as a sh. Those of
you who are more schooled in the classi cation of sh might recog-
nize that this is an angel sh with the tail resembling the head of the
angel and the posterior ns representing the wings. If you are truly
prepared to see this sh in all its splendor, you would see the blue FIGURE 1-2 Scaling on the scalp of this 3-ye ar-old g irl was thoug ht to
circle above its eye as the crown of the queen angel sh. b e seb orrheic d e rmatitis for one year. Whe n the crad le cap did not g o
away with app rop riate treatment another clinician looked for other clue s
Making a diagnosis in medicine often involves the kind of pattern of d isease to d etermine that this was p soriasis. (Used with p e rmission
recognition needed to identify a queen angel sh. This is much the from Richard P. Usatine , MD.)
same as recognizing a beautiful bird or the painting of a favorite art-
ist. If you are prepared to look for the clues that lead to the identi -
cation (diagnosis), you will see what needs to be seen. How can we USING O UR SENSES
be best prepared to see these clues?There is nothing more valuable
than seeing an image or a patient who has the condition in question As physicians we collect clinical data through sight, sound, touch, and
at least once before you encounter it on your own. The memory of a smell. Although physicians in the past used taste to collect data, such
powerful visual image can become hardwired into your brain for as tasting the sweet urine of a patient with diabetes, this sense is
ready recall. rarely, if ever, used in modern medicine. We listen to heart sounds,
In medicine, it also helps to know where and how to look to nd lung sounds, bruits, and percussion notes to collect information for
the clues you may need when the diagnosis cannot be made at a single diagnoses. We touch our patients to feel lumps, bumps, thrills, and
glance. For example, a 3-year-old girl presents with bad seborrheic masses. We occasionally use smell for diagnosis. Unfortunately, the
dermatitis of the scalp and hand dermatitis that is not responding to smells of disease are rarely pleasant. Even the fruity odors of Pseudo-
typical treatments with selenium based shampoos and topical steroids monas are not like the sweet fruits of a farmers’ market. Of course,
(Figures 1-2 and 1-3). The prepared clinician knows that not all scaly we also use the patient’s history, laboratory data, and more advanced
erythematous rashes on the scalp and hands are dermatitis and looks imaging techniques to diagnose and manage patients’ illnesses.
for clues of psoriasis such as nail changes (Figure 1-4) or scaling ery-
thematous plaques around the elbows and knees (Figure 1-5).
Knowing where to look and what to look for is how an experienced
clinician makes the diagnosis of psoriasis.
FIGURE 1 -3 The same 3-year-old girl with scaling and cracking of the
hands thought to b e atopic dermatitis. It was not until another clinician
looked carefully at the nails and knees that the correct diagnosis of pso-
FIGURE 1-1 Queen angel sh (Holacanthus ciliaris). (Used with permission riasis was made. Knowing where to look for the clues is critical to making
from Sam Thekkethil. http://www. ickr.com/photos/natureloving.) the correct diagnosis. (Used with permission from Richard P. Usatine, MD.)
PART 1
AN ATLAS TO ENHANCE PATIENT
CARE, LEARNING, AND TEACHING LEARNING WITH IMAGES AND 3
FIGURE 1-4 When the d iagnosis of psoriasis is being considered , look

at the nails for p itting or other nail changes such as splinter hemorrhages,
onycholysis, or oil spots. This is a good example of nail pitting and splinter
hemorrhages in a 3-year-old g irl with p soriasis. (Used with pe rmission
from Richard P. Usatine, MD.)
It was our belief in the value of visual imagery that led to the devel-
opment of this rst Color Atlas of Pediatrics. We are pleased to provide
more than 2,000 images to you and doctors around the world as a FIGURE 1-5 Sub tle p laq ue s ove r the kne e s and e xte nsor surface s of
large color textbook and also as an interactive electronic application the lowe r le g s in a 3-ye ar-old g irl with p soriasis. (Use d with p e rmission
for easy use on the iPhone, iPod touch, iPad, and all Android devices. from Richard P. Usatine , MD.)
If you cannot nd the image in our book try the Internet and Google’s
EXPANDING O UR INTERNAL IMAGE BANKS search engine. Try a Google image search and follow the leads. Of
course, this is easiest to do if you have a good differential diagnosis
The larger our saved image bank in our brain, the better clinicians and want to con rm your impression. If you do not have a diagnosis in
and diagnosticians we can become. The expert clinician has a large mind, you may try putting in descriptive words and look for an image
image bank stored in memory to call on for rapid pattern recognition. that matches what you are seeing. If the Google image search does not
Our image banks begin to develop in medical school when we view work, try aWeb search and look at the links for other clues.
pictures in lectures, textbooks, and electronic media. We then begin Finally, there are dedicated atlases on the Internet for organ systems
to develop our own clinical image bank by our clinical experiences. that can help you nd the needed image. Most of these atlases have their
Our references are printed color atlases and those color atlases are own search engines, which can help direct you to the right diagnosis.
available on the Internet and electronically. Table 1-1 lists some of the best resources currently available online.
Studying and learning the patterns from any atlas can enhance your
expertise by enlarging the image bank stored in your memory. An atlas
takes the clinical experiences of clinicians over decades and gives it to USING IMAGES TO BUILD TRUST IN THE
you as a single reference. We offer you a modern comprehensive pedi- PATIENT–PHYSICIAN RELATIO NSHIP
atric color atlas, which includes all areas of pediatrics from head to
toe with special areas of focus on newborn and adolescent health, If you are seeing a patient with a mysterious illness that remains undi-
dermatology, and genetic disorders. agnosed and you gure out the diagnosis, you can often bridge the
issues of mistrust and anxiety by showing the patient and their family
the picture of another person with the diagnosis. Use our atlas for
USING IMAGES TO MAKE A DIAGNO SIS that purpose and supplement it with the Internet. This is especially
important for a patient who has gone undiagnosed or misdiagnosed
We all see visible clinical ndings on patients that we do not recog- for some time. “Seeing is believing” for many patients. Ask the
nize. When this happens, open this book and look for a close match. patient or parents rst if they would want to see some pictures of
Use the Topic Index, Table of Contents, or Subject Index to direct other persons with a similar condition; most will be very interested.
you to the section with the highest yield photos. If you nd a direct The parents and the patient can see the similarities between their
match, you may have found the diagnosis. Read the text and see if the condition and the other images, and feel reassured that your diagnosis
history and physical examination match your patient. Perform or is correct. Write down the name of the diagnosis and use your patient
order tests to con rm the diagnosis, if needed. education skills.
PART 1
4 LEARNING WITH IMAGES AND CHAPTER 1
TABLE 1-1 Exce lle nt Clinical Imag e Colle ctions on the Inte rne t
De rm Atlas www.d e rmatlas.org Johns Hop kins Unive rsity

De rmIS www.d e rmis.ne t De rm Information Syste ms from Ge rmany
De rmne t www.d e rmne t.com Skin Dise ase Imag e Atlas
Inte ractive De rm Atlas www.d e rmatlas.ne t From Richard P. Usatine , MD
ENT www.e ntusa.com From an ENT p hysician
Eye www.e ye round s.org Unive rsity of Iowa
Fig ure Se arch www. g ure se arch.askhe rme s.org Unive rsity of Wisconsin
Imag e s of all typ e s www.commons.wikime d ia.org Wikime d ia Commons
www.consultant360.com Consultant Imag e Datab ase
Infe ctious Dise ase s www.p hil.cd c.g ov CDC Pub lic He alth Imag e Lib rary
Rad iolog y http ://rad .usuhs.e d u/me d p ix/ Me d Pix
Skinsig ht www.skinsig ht.com/html Log ical Imag e s
Do be careful when searching for images on the Web in front of taken and will be delighted to see themselves on the screen of your
patients. Sometimes what pops up is not “pretty” (or, for that matter, camera/ phone. If the child is old enough to be self-conscious about the
G or PG rated). I turn the screen away from the patient and their condition that is “not normal,” consider asking to take a picture of a
family before initiating the search and then censor what I will show healthy aspect of the child rst. Most children will smile for a photo-
them. I also explain that the images in a book or on the Internet may graph of their face when they are feeling well and then be less puzzled
be the worst cases so that they may appear more severe than what or disturbed by a photograph of their foot or other involved area.
your patient has. This can help blunt the anxiety of whether the child The advent of digital photography makes the recording of photo-
will go on to develop a worse case. graphic images less expensive, easier to do, and easier to maintain.
If you teach, model this behavior in front of your students. Show Digital photography also gives you immediate feedback and a sense
them how reference books and the Internet at the point of care can of immediate grati cation. No longer do you have to wait for a roll of
help with the care of patients. lm to be completed then processed before nding out the results of
your photography. Not only does this give you instant grati cation to
see your image displayed instantaneously in the camera, but also alerts
TAKING YO UR O WN PHO TO GRAPHS you to poor-quality photographs that can be retaken while the patient
is still in the of ce. This speeds up the learning curve of the beginning
Images taken by you with your own camera of your own patients photographer in a way that could not happen with lm photography.
complete with their own stories are more likely to be retained and
retrievable in your memory because they have a context and a story
to go with them. We encourage our readers to use a digital camera O UR GO ALS
(within a smartphone or a stand-alone camera) and consider taking
your own photos. Of course, always ask permission before taking any Many of the images in this atlas are from my collected works over the
photograph of a patient. Explain how the photographs can be used to past 30 years of my practice in medicine. My patients have generously
teach other doctors and to create a record of the patient’s condition allowed me to photograph them so that their photographs would help
at this point in time. If the photograph will be identi able, ask for the physicians and patients of the future. To these photos, we have
written consent; for patients younger than age 18 years, always ask added images that represent decades of experiences by other physi-
the parent to sign. Store the photos in a manner that avoids any cians and specialists. The Cleveland Clinic Children’s Hospital photo
Health Insurance Portability and Accountability Act (HIPAA) privacy les have been a real treasure for the rare conditions not seen regu-
violations, such as on a secure server or on your own computer with larly by the practicing pediatrician. For those photos, I thank my co-
password protection and data encryption. These photographs can author and co-editor Dr. Camille Sabella for all the work that went
directly bene t the patient when, for example, following various into cataloguing and providing these treasured images for this atlas.
chronic diseases or skin conditions for changes. It is the goal of this atlas to provide you with a wide range of images
Digital photography is a wonderful method for practicing, teaching, of common and uncommon conditions, and provide you with the
and learning medicine. You can show patients pictures of conditions on knowledge you need to make the diagnosis and initiate treatment. We
parts of their bodies that they could not see without multiple mirrors want to help you be the best diagnostician you can be. We may aspire to
and some unusual body contortions. You can also use the zoom view be a clinician like Sir William Osler and have the detective acumen of
feature on the camera or smartphone to view or show a segment of the Sherlock Holmes. The images collected for this atlas can help move you
image in greater detail. Children generally love to have their photos in that direction by making you prepared to see what you need to see.
PART 2
THE ESSENCE O F
PEDIATRICS
St re ng t h o f
(SO R) De nit io n

PART 2
6 CHAPTER 2
THE ESSENCE O F PEDIATRICS
2 DO CTO R—PATIENT
RELATIO NSHIP
Camille Sab e lla, MD
PATIENT STO RY
Patient and family stories, particularly if we listen attentively and non-

judgmentally, provide us with a window into their lives and experi-
ences. These stories help us to know our patients and families in pow-
erful ways, and that knowledge about the patient, as someone special,
provides the context, meaning, and clues about their symptoms and
illnesses that can lead to healing. At our best, we serve as witness to
their struggles and triumphs, supporter of their efforts to change and
grow, and guide through the medical maze of diagnostic and therapeu-
tic options. Sometimes, their stories become our own stories—those
patients who we will never forget because their stories have changed
our lives and the way we practice medicine (Figures 2-1 and 2-2).
FIGURE 2-1 Dr. Jim Le g le r caring for a young g irl in a fre e clinic within
WHAT FAMILIES WANT FRO M THEIR a transitional housing villag e for home le ss familie s. He is a p e d iatrician
PEDIATRIC PRO VIDERS who volunte e rs e ve ry we e k to care for the familie s working the ir way out
of home le ssne ss. He had b e e n caring for Kimb e rly and he r family for
many months at the time this p hotog rap h was take n. Dr. Le g le r se rve s
• In a study of families of pediatric patients under 13 years of age in a as a role mod e l for stud e nts inte re ste d in p rimary care of the und e r-
large outpatient clinic, three elements were shown to be essential se rve d . He is known for his kind ne ss and comp assion to all his p atie nts.
for effective physician-parent-child communication from a parent
perspective. 1 These included:
~ Informativeness—Parents place considerable importance on the exam to gain the most information and provide the most education
quality and quantity of information provided by the physician ef ciently.
regarding their child’s health. • Communicating with patients and families is essential for quality
~ Interpersonal sensitivity—Parents highly value physicians who care; effective physician-parent communication has been shown to
were supportive and sensitive to the child’s and parent’s feelings be essential in securing:
and concerns. ~ An accurate diagnosis.
~ Partnership building—The extent to which the physician
involves the parent and child in the care of the child.

• Yet, traditionally, there has been little emphasis placed on building
interpersonal skills in pediatric practice and training. This led to an
American Academy of Pediatrics (AAP) report in 2001, which
stated that “there is a need to better learn how to elicit informa-
tion, including a narrative interview approach, allowing the child,
adolescent, and parents to tell their stories” and that “there is a
need to communicate empathy.”2
BENEFITS O F EFFECTIVE
CO MMUNICATIO N
• The pediatric encounter is complex and unique because it:

~ Involves the physician-parent-child and other family members.
~ Is in uenced by the developmental and cognitive stage of the child.

FIGURE 2-2 Dr. Camille Sab e lla e xamine s a child re cove ring from
~ Needs to cover medical issues, emotional concerns, behavioral oste omye litis of the fe mur. This child re q uire d 6 we e ks of antimicrob ial
the rap y, which was accomp lishe d succe ssfully. Be cause this is a com-
issues, anticipatory guidance, immunizations, and parent and mon and “routine ” infe ction for a p e d iatric infe ctious d ise ase s p hysi-
child education. cian, it is e asy to forg e t the consid e rab le p sychosocial e ffe ct that this
infe ction had on this b oy and his mothe r. Close follow-up , care ful liste n-
• Dealing with these unique aspects in an effective manner requires ing , e d ucation re g ard ing the e xp e ctations and p rog nosis, and e ng ag -
that the physician be exible in adjusting the history and physical ing the child in his own care all are imp ortant for a succe ssful outcome .
PART 2
DO CTO R—PATIENT RELATIO NSHIP 7
~ Parental satisfaction with care.

~ a majority of parents welcome or do not mind being asked about
~ emotional and psychosocial stressors. 8
~ Enhanced discussion of psychosocial issues leading to improved psychosocial issues are likely to occur when the pediatrician:
psychological and behavioral outcomes. ~ Shows interest and attention while listening.
family-centered care, which is endorsed by the AAP as a ~ Shows interest in managing parenting and behavioral concerns. 9
cornerstone for care.
connectedness with a patient, evolves from the relationship.
Within the context of this relationship, the clinician makes the
CO MMUNICATIO N WITH THE patient and family feel known, pays attention to the meaning that a
CHILD PATIENT symptom or illness has in the family’s life, expresses real feeling
devotion (e.g., a willingness at times to do something extra for the

patient and family). To provide caring to patients, clinicians must
child to be an active participant in their care because it shows take care of themselves.
respect for the child’s abilities and capacities, enhances their skill in
making future health decisions, and enables their input in situations
where there is more than one method of diagnosis or treatment. CO NCLUSIO N
This is especially relevant for older children and adolescents. The physician-parent-child interaction is complex and unique, and
requires the provider to address multiple aspects of care, including
treatment plan and resultant outcome. medical diagnosis, treatment plan, anticipatory guidance, family educa-
tion, and attention to psychosocial aspects. Genuine caring, empathy,
support, and respect for the patient and family provide the foundation
for an effective and long lasting physician-family relationship.
from the Netherlands, children’s contributions were limited to
their statements to the child. 5 REFERENCES
parents’ evaluations of pediatric consultations. Medical care

care providers caring for children need to develop strategies for
engaging children in the outpatient setting.
aspects of child and family health. The new morbidity revisited: a
physicians can ask children social questions early in the visit, phrase renewed commitment to the psychosocial aspects of pediatric
questions as requiring a yes-no response, and direct their gaze at care. Pediatrics
the child when asking questions. 5 -
6
ized children: review and application of research pertaining to
~
children’s understanding of health and illness. J child Pediatr Psychol
~ Setting should be private—Especially with the adolescent patient Psychiatry
where con dentiality is critical.
~ Begin with a nonthreatening topic. A review of the literature. Soc Sci Med
~ Listen actively.
~ Pay attention to body language and tone of voice.
encounters. Pediatrics
~ Use drawings, games, or other creative communication
techniques. 6. Lask B. Talking with children. Br J Hosp Med
~ Elicit fears and concerns by reference to self or a third party. 7. American Academy of Pediatrics. Family Pediatrics. Report of the
Task Force on the Family Pediatrics
FAMILY-O RIENTED CARE
maternal health needs in pediatric settings. Pediatrics
Task Force on the Family, in part to assist pediatricians in pro- 9. Wissow LS. Pediatrician interview style and mothers’ disclosure
moting well-functioning families. 7 This type of care was referred of psychosocial issues. Pediatrics
to as “family-oriented care” or “family pediatrics” and was
strongly endorsed as a way to provide pediatric care in a context
that promotes successful families and good outcomes for children. doc.com: an interactive learning resource for healthcare comm. unication.
2006. Available at: http:// webcampus.drexelmed.edu/ doccom/ user/ .
issues, which accounts for 65 percent of primary care visits and Accessed February 9, 2008.
PART 2
8 CHAPTER 3
3 PATIENT- AND
FAMILY-CENTERED CARE
Miche lle Marks, DO , FAAP, FHM
Rita Pap p as, MD, FAAP, FHM
PATIENT STO RY
A 15-month-old boy is admitted with fever, rash, and conjunctivitis.

Kawasaki disease is suspected and he is transferred to the inner city
academic hospital from the community hospital. The mother of the
boy is very concerned about the child and the diagnosis. Family Cen-
tered Rounds occur in the morning (Figures 3-1 to 3-4). During FIGURE 3-2 The p e d iatric te am includ e s nursing , re sid e nts, me d ical
stud e nts, and atte nd ing staff. It is vital to p atie nts and familie s to
rounds, the health care team is introduced and a plan of care is includ e all involve d in the care of the child and family.
initiated with input from the mother.
SYNO NYMS
Family centered care; Family centered rounds.
DEFINITIO N
An innovative approach to the planning, delivery, and evaluation of

health care that is grounded in a mutually bene cial partnership
among patients, families, and providers, all of whom recognizes the
importance of the family in the patient’s life. 1,2
It is an approach to health care that shapes policies, programs,
facility design, and staff day-to-day interactions. It leads to better
health outcomes, wiser allocation of resources, and greater patient
and family satisfaction.
It should be noted that the term “Patient- and Family-Centered FIGURE 3-3 In the p atie nt roo m, all p articip ants ne e d to b e e ng ag e d
Care” has replaced “Family-Centered Care” to more explicitly capture and p articip ate in the d iscussion.
the importance of engaging the family and the patient in a developmen-
tally supportive manner, as essential members of the health care team.
FIGURE 3-1 Patie nt-and Family-Ce nte re d Care . The p e d iatric te am is FIGURE 3-4 The p e d iatric te am cond ucting round s in the p atie nt’s
p re p aring to e nte r the room b y p re -round ing p rior to e nte ring the room. The p are nts should b e offe re d the choice to round insid e of the
room. p atie nt room or outsid e of the p atie nt room.
PART 2
PATIENT- AND FAMILY-CENTERED CARE 9
CO RE PRINCIPLES O F PATIENT AND development of partnerships among patients, families, and health
FAMILY-CENTERED CARE1,2 care professionals, and to provide leadership for advancing the
practice of family centered care in all settings.
1. Listening to and respecting each child and his or her family, and
honoring various types of backgrounds and family experiences. of research and by prestigious organizations, such as the Institute of
Patient and family knowledge, values, beliefs, and cultural back- Medicine (IOM), which in its 2001 report, “Crossing the Quality
grounds are incorporated into the planning and delivery of care. Chasm: A New Health System for the 21st Century,” emphasized
2. Ensuring exibility in the practice of the team so that services can the need to ensure the involvement of patients in their own health
be tailored to the needs, beliefs, and cultural values of each child care decisions, to better inform patients of treatment options, and
and family, thus facilitating choice for the child and family about to improve patients’ and families’ access to information. 3
approaches to care.
3. Sharing complete, honest, and unbiased information with patients for Health care Improvement (IHI) brought together leadership
and their families on an ongoing basis, and in ways they nd useful organizations and patient and family advisors to advance the prac-
and af rming. Patients and families should receive timely, complete, tice of patient- and family-centered care and ensure that there are
and accurate information in order to effectively participate in care sustained, effective partnerships with patients and families in all
and decision-making. Health information for children and families aspects of the health care system. 2,4,5
should be available in the appropriate health literacy. In hospitals,
conducting physician rounds in the patients’ rooms with nursing of the principles of patient- and family centered care into several
staff and family present will enhance the exchange of information policy statements and manuals.
and encourage the involvement of the family in decision-making. Directors approved a Parent Advisory Group pilot program under
4. Providing and/ or ensuring formal and informal support (e.g., the section on Home Care. Members of the Parent Advisory Group
peer-to-peer support) for the child and family during each phase all share a special interest in patient- and family-centered care, have
of the child’s life. Patients and families are encouraged and sup- personal experience with children with special health care needs, and
ported in participating in care and decision-making at the level serve as advisors and leaders for patient- and family-centered pedi-
they choose. atric care within their own communities and at the national level.
5. Collaborating with patients and families at all levels of health care:
in the delivery of care to the individual child; in professional edu- improve health care throughout the world. Among its core values
cation, policy making, program development, implementation, and is patient and family centeredness. The National Institute for Chil-
evaluation; and in health care facility design. In the area of medical dren’s Health care Quality (NICHQ) was launched as an IHI pro-
research, patients and families should have voices at all levels in all
facets of research. of health care provided to children. One component of its 4-part
improvement agenda is promoting evidence-based patient and
family-centered care for children with chronic conditions. 7
HISTO RY/ INTRO DUCTIO N
which demonstrate the bene ts of patient and family-centered care.
in health care during the second half of the 20th century. Much of associated with a decreased length of stay, reduced medical errors,
the early work focused on hospitals; for example, as research and improved staff satisfaction.
emerged about the effects of separating hospitalized children from -
their families, many institutions adopted policies that welcomed tion as well as hospital safety and communication, which is a funda-
family members to be with their child around the clock and also mental part of this type of care.
encouraged their presence during medical procedures.
-
comes, improve the patient’s and family’s experience, increase
Service Administration played an active role in furthering the involve- patient and family satisfaction, build on child and family strengths,
ment of families and the support of family issues and service needs. increase professional satisfaction, decrease health care costs, and
lead to more effective use of health care resources.
at children with special needs, provided additional validation of the
importance of family-centered principles.
RECO MMENDATIO NS FO R
- IMPLEMENTATIO N 1
cates for family-centered, community-based services for children
with special health care needs. 1. As leaders of the child’s medical home, pediatric providers
should ensure that true collaborative relationships with patients
Family- Centered Care (now the Institute for Patient- and and families as de ned in the core concepts of patient- and
PART 2
10 CHAPTER 3
family-centered care are incorporated into all aspects of their 14. Education and training in patient and family-centered care should
professional practice. The patient and family are integral mem- be provided to all trainees, students, and residents as well as staff
bers of the health care team. They should participate in the devel- members.
opment of the health care plan and have ownership of it. 15. Patients and families should have a voice in shaping the research
agenda, and they should be invited to collaborate in pediatric
research programs. This should include determining how children
behavior and needs, should actively seek out their observations, and families participate in research and deciding how research
and should appropriately incorporate family preferences into the ndings will be shared with children and families.
care plan. -
3. In hospitals, conducting attending physician rounds (i.e., patient comes and implementation of patient- and family-centered care
presentations and discussions) in the patients’ rooms with nurs- in all venues of care.
ing staff and the family present should be standard practice. 17. Incorporating the patient- and family-centered care concepts into
4. Parents or guardians should be offered the option to be present -
with their child during medical procedures and offered support tion time by pediatricians. This time has value and is an investment
before, during, and after the procedure. in improved care, leading to better outcomes and prevention of
5. Families should be strongly encouraged to be present during hos- unnecessary costs in the future. Payment for time spent with the
pitalization of their child, and pediatric providers should advocate family should be appropriate and paid without undue administra-
for improved employer recognition of the importance of family tive complexities.
presence during a child’s illness.
PRO VIDER RESO URCES
the active participation of all children, including children with

disabilities, if capable, in the management and direction of their Fam Syst Health
own health care. The adolescent’s and young adult’s capacity Partnering With Patients
for independent decision-making and right to privacy should and Families to Design a Patient- and Family-Centered Health Care
be respected. System: Recommendations and Promising Practices
7. In collaboration with patients, families, and other health care
professionals, pediatric providers should modify systems of care,
processes of care, and patient ow as needed to improve the http:// www.ihi.org/ ihi, accessed September 13, 2013.
patient’s and family’s experience of care. Strategies for Leadership: Patient-
and Family-Centered Care. Chicago, IL: American Hospital Association;
children and families in ways that are useful and af rming. 2004. Available at: http:// www.aha.org/ aha/ issues/
This information should be complete, honest, and unbiased. Communicating-With-Patients/ pt-family-centered-care.html,
accessed May 12, 2013.
support and networking, particularly with children and families
of similar cultural and linguistic backgrounds or with the same America. To Err is Human: Building a Safer Health System.
type of medical condition.
10. Pediatric providers should collaborate with patients and families Healthc Exec
and other health care providers to ensure a transition to good- Patient and family
centered care in an academic medical center: informatics, partnerships and
centered adult health care services. future vision. In: Weaver CA, Delaney CW, Weber P, Carr R, eds.
11. In developing job descriptions, hiring staff, and designing perfor- Nursing and Informatics for the 21st Century: An International
mance appraisal processes, pediatric providers should make Look at Practice, Trends and the Future. Chicago, IL: Healthcare
explicit the expectation of collaboration with patients and families
and other patient- and family-centered behaviors.
12. Pediatric providers should create a variety of ways for children centered care and satisfaction predictors: the Critical Care Family
and families to serve as advisors for and leaders of of ce, clinic,
hospital, institutional, and community organizations involved
with pediatric health care.
13. The design of health care facilities should promote the philosophy
REFERENCES
of patient- and family-centered care, such as including single
room care, family sleeping areas, and availability of kitchen and 1. Patient- and Family-Centered Care and the Pediatrician’s Role.
laundry areas and other areas supportive of families. Providers Pediatrics
should advocate for children and families to participate in design 2. Institute For Patient-And Family-Centered Care. Available at:
planning of health care facilities. http// www.ipfcc.org, accessed May 22, 2013.
PART 2
PATIENT- AND FAMILY-CENTERED CARE 11
3. Institute of Medicine. Committee on Quality Health Care in America. 7. National Initiative for Children’s Healthcare Quality.
Crossing the Quality Chasm: A New Health System for the 21st Century.
Washington, DC: National Academies Press; 2001. May 12, 2013.
Partnering with
patients and families to design a patient- and family-centered health care Children’s Hospital Medical Center: transforming care for
system: a roadmap for the future— a work in progress children and families. Jt Comm J Qual Patient Saf.
Institute for Family-Centered Care and Institute for Healthcare
-
ment strategies in primary care for children with special health
DeWitt TG. Family-centered bedside rounds: a new approach to patient care needs. Pediatrics
care and teaching. Pediatrics
between families and health professionals’ perspectives on
Task Force on the Family. Pediatrics. family-centered care. Health Expect
PART 2
12 CHAPTER 4
4 THE BIRTH O F A CHILD EPIDEMIO LO GY

Sab ine Ib e n, MD 1
in the US in 2011
there were:
~ a total of 3,953,593 births recorded.
PATIENT STO RY
~
~ 11.72 percent of infants preterm.

~ 8.1 percent of low birthweight (<2500g).
Mary and Joe are expecting their rst baby. The pregnancy has
been without complications; routine prenatal screens and ultra-
sounds have been negative including the screen for Mary’s Group deaths/ 1,000 live births/ year, resulting in ca. 24,000 deaths
B Streptococcal (GBS) status, the Quad screen for fetal anomalies per year. 2
and cystic brosis carrier status. Mary is happy to report strong
fetal movements. One week before her due date Mary experiences (ca. 35%) and due to congenital malformations, most commonly
strong contractions. She is admitted in active labor, membranes heart defects. 3
rupture spontaneously within 2 hours after arrival in the hospital.
Labor progresses uneventfully, pain relief is provided by epidural structural or genetic birth defect. 4
anesthesia. Ten hours later a vigorous baby girl is born. The only
intervention provided for resuscitation is drying followed by skin-
-
to-skin placement on mother’s chest for bonding. Initial physio-
tion measures. 5
logic cyanosis is resolved by 5 minutes of life (Figure 4-1).
APGAR scores of 8 at 1 min and 9 at 5 min are assigned. Her
weight shows that she is appropriate for gestational age. Erythro-
mycin eye ointment is applied to both eyes for prophylaxis of oph- ETIO LO GY AND PATHO PHYSIO LO GY
thalmia neonatorum, an injection of Vitamin K intramuscularly is
given for prophylaxis of hemorrhagic disease of the newborn. Mary -
chooses to breastfeed that is initiated shortly after delivery with lated at 40 weeks after the Last Menstrual Period (LMP).
the aid of a lactation consultant. Over the next couple of days, the
newborn is breastfeeding about 10 times a day, voiding several <37 weeks gestational age (GA) is considered pre-
times a day and has passed her rst meconium stool by 14 hours term; borderline of viability is considered 22 to 23 weeks GA.
of life. On day of life # 2 she has lost 6 percent of her birthweight
and appears mildly jaundiced. A bilirubin level shows a value considered low birthweight; less than 1500 g very low birthweight;
within the physiologic range. She is discharged at about 50 hours of and less than 750 g extremely low birthweight.
life with her mother and a follow-up visit with her pediatrician is
arranged for 2 days after discharge. ~ Intrauterine fetal circulation (Figure 4-2):
I Gas exchange occurs through the placenta, which represents
the path of lowest resistance in fetal circulation.
I Non-ventilated high-resistance lungs are bypassed by the fora-
men ovale and the patent ductus arteriosus and receive only
minimal perfusion.
~ Uncomplicated transition is characterized by:
I Increase in systemic pressure promoted by clamping of the
cord and removal of the low resistance placenta.
I Surfactant secretion which decreases the surface tension in the
alveoli.
I Loss of fetal lung uid.
I
facilitated by the rst breaths.

I Functional closure of physiologic shunts (Foramen ovale and
I These changes result in a decrease in pulmonary vascular

resistance and increase in pulmonary artery blood ow.
~ Failure of appropriate transitioning into the newborn circulation
may result in Persistent Pulmonary Hypertension of the Newborn
FIGURE 4-1 Acrocyanosis of hand s and fe e t in a ne wb orn is
p hysiolog ic and not a sig n of hyp oxia. (Use d with p e rmission from (PPHN) characterized by hypoxemia due to persistently high pul-
Dr. Sab ine Ib e n.) monary vascular resistance and decreased pulmonary blood ow.
PART 2
THE BIRTH O F A CHILD 13
Ductus a rte rios us

(be come s liga me ntum
a rte rios um)
P ulmona ry a rte ry
Aortic a rch
S upe rior ve na cava

P ulmona ry ve ins
Fora me n ova le P ulmona ry trunk

(be come s fos s a ova lis ) Le ft a trium
Le ft ve ntricle
Infe rior ve na cava
Abdomina l a orta
Ductus ve nos us
(be come s liga me ntum Le ft re na l a rte ry
ve nos um)
Common ilia c a rte ry
He pa tic porta l ve in Umbilica l a rte rie s
(be come me dia l
Umbilica l ve in umbilica l liga me nts )
(be come s liga me ntum Inte rna l ilia c a rte ry
te re s )
Umbilica l ve in
De cre a s ing
blood
oxyge n
P la ce nta leve l
Umbilica l a rte rie s
FIGURE 4-2 Illustration of the fe tal circulation. Blood is oxyg e nate d in the p lace nta, b yp assing the lung s throug h
p hysiolog ic shunts (Ductus arte riosus, Forame n ovale ). (Use d with p e rmission fro m Hole ’s Human Anatomy and
Physiolog y, 12e , McGraw-Hill.)
RISK FACTO RS
intervention at delivery or further intensive care include:
Figure 4-3).
abnormal cord insertion, placental infarcts, chronic abruption

(Figure 4-4).
macrosomia).
FIGURE 4-3 Monoamniotic, d ichorionic twin g irls with a 10 p e rce nt

g rowth d iscre p ancy, b orn p re mature at 31 we e ks. (Use d with p e rmis-
tachycardia). sio n from Dr. Sab ine Ib e n.)
PART 2
14 CHAPTER 4
FIGURE 4-4 Bilob ate p lace nta, rare ly o f clinical sig ni cance . Place ntal FIGURE 4-5 Re suscitation tab le se t up for ne wb orn re suscitation: he at
anomalie s or ab normal cord inse rtions can b e associate d with p oor source is turne d on, se ve ral b lanke ts p re p are d for d rying the ne wb orn,
fe tal outcome . (Use d with p e rmission fro m Dr. Sab ine Ib e n.) suction d e vice s (b ulb and wall suction), b ag /mask, oxyg e n source and
intub ation e q uip me nt all availab le and che cke d . (Use d with p e rmission
from Dr. Sab ine Ib e n.)
fetal distress). rate.

<10th
Escherichia coli. percentile), AGA (appropriate for gestational age, weight 10–90th
percentile), and LGA (large for gestational age, weight >90th
percentile).
DIAGNO SIS
Assessment of the newborn in the delivery room (Figures 4-5 to 4-8)

include:
monitoring or intervention.
~ At 1 minute re ecting the assessment at birth.

~ At 5 minutes re ecting the response to resuscitation.
~ At 10 minutes if score at 5 minutes is less than 7. 6
may include peripheral cyanosis and mild tachypnea.
Initial assessment in the newborn nursery include:

FIGURE 4-6 Vig orous ne wb orn at 1 minute of ag e , no re suscitation
ne e d e d othe r than d rying . (Use d with p e rmission from Dr. Sab ine Ib e n.)
PART 2
~ Target glucose concentration is ≥45 mg/ dl; babies should be

followed before feedings for 12 (IDM) to 24 hours of life
(preterm, SGA)7. SO R
• Ballard exam8 if gestational age is unknown or uncertain. Of note,
gestational age is most accurately determined by early ultrasound
or LMP. The estimated gestational age by Ballard exam may be
inaccurate by as much as 2 weeks.
• Screening complete blood count with differential, blood culture as
recommended by the CDC algorithm for prevention of early GBS
sepsis9 or if risk factors for sepsis are present. 10
• Assess for risk factors for jaundice, which includes the veri cation
of maternal blood type. Most facilities routinely obtain the infants
blood type on cord blood, either universally or selectively if
maternal blood type is O, Rh negative, or direct antibody positive.
MANAGEMENT
In the delivery room:

• Newborn resuscitation according to NRP guidelines. 11 SO R
FIGURE 4-7 An initial p hysical e xamination is p art of the ne wb orn
asse ssme nt. (Use d with p e rmission from Dr. Sab ine Ib e n.) • Vitamin K 0.5 to 1mg intramuscularly for prophylaxis of hemor-
rhagic disease of the newborn. 12 SO R
• Complete physical examination. ~ Incidence is 0.25 to 1.7 percent without prophylaxis.
~ Oral Vitamin K may not prevent late-onset hemorrhagic disease

• Review of maternal medical history, prenatal screens, and prenatal
imaging. of the newborn.
• Screen for hypoglycemia as indicated: • Eye prophylaxis with erythromycin 0.5 percent ointment for pre-
~ Infants with risk factors only, asymptomatic: 30 minutes after the vention of gonococcal ophthalmia neonatorum. 13 SO R
rst feed. Risk factors include LGA or SGA, infant of diabetic • Identi cation band on baby, mother, and second adult (father or
mother (IDM), and prematurity. Symptomatic infants need to be other support person designated by mother).
screened earlier.
• Application of security device/ sensor if available.
• Determination of appropriate further care (newborn nursery,
transitional care, neonatal intensive care unit).
In the newborn nursery:

• Recording of birth parameters on growth charts.
• Bath/ sponge bath with mild, non-medicated soap after temperature
is stable.
• Encourage breastfeeding and educate mothers about bene ts.
• Assess for contraindications for breastfeeding (active herpes simplex
virus lesions on the breast, maternal human immunode ciency virus
[HIV] infection, treatment with antimetabolites, chemotherapeutic
or radioactive agents, some metabolic disorders in the infant). If in
doubt, consult with lactation consultant or neonatologist:
~ Estimation of intake and output by recording duration of
breastfeeding, amount of formula, number of wet diapers, and

meconium.
~ Eecording of vital signs.
~ Maintain temperature.
~ Daily weight.
~ Appropriate positioning (supine on at surface).
~ Regular assessment for signs and symptoms of withdrawal using

FIGURE 4-8 A hat he lp s to minimize he at loss. The b ab y is in no d is-
tre ss and re ad y to sp e nd time with mom. (Use d with p e rmission from a narcotic abstinence scoring system if exposed to opiates
Dr. Sab ine Ib e n.) prenatally. 14
PART 2
16 CHAPTER 4
~ Exam by physician at least by 24 hours of age, within 24 hours

before discharge.
each diaper change for 4 to 7 days after circumcision. 15

~ Foreskin should not be forcibly retracted in uncircumcised penis.
Adhesions are physiologic.
~ Antiseptic agents (alcohol, triple dye, chlorhexidine) not indi-

cated in developed countries. SO R
16
; early immunization is effec-
SO R
~
12 hours of life.
~ If Hep B status cannot be determined within rst 12 hours of life
the baby will need Hepatitis B vaccine within that timeframe as
well as immunoglobulin within 7 days of life if the maternal
screen returns positive or remains unknown.
~ If Hepatitis B status is unknown and the baby’s birthweight is less FIGURE 4-9 Maximize d p hotothe rap y in a ne wb orn with ABO -
incomp atib ility and he molytic jaund ice . Se ve ral b anks of p hotothe rap y
than 2000g, both the vaccine and immunoglobulin should be may b e use d includ ing a b ilib lanke t. The b ab y is in an Isole tte to p re -
given within rst 12 hours of life. ve nt he at loss while clothing is re move d to maximize e xp ose d b od y
surface are a. (Use d with p e rmission from Dr. Sab ine Ib e n.)
Some problems can be managed in the newborn nursery while many
~ Investigate causes.
urine output: ~ Add additional blankets.
Optimize environmental temperature.
~
~
~ Lactation consultation for breastfeeding moms.

~
~ Encourage oral (po) feeds, feed every 2 to 3 hours
~
~ Bottle versus tube extension to the breast, nger feeding, or cup ~
feeding. ~ Regular monitoring BEFORE feeds.
~ Work-up for causes of persistent hypoglycemia with endocrinology
~ Assess need for phototherapy (Figure 4-9) using American Academy input.
of Pediatrics recommended phototherapy levels and guidelines. 17,18
I May be provided in the newborn nursery as long as there is no ~ Avoid rectal stimulation/ suppositories.
excessive rise and/ or impending need for exchange transfusion. ~ Obtain plain abdominal radiograph.
I Assure optimal skin exposure while closely monitored for ~
hypothermia.
I
~ Specialty consultation (neonatology, pediatric surgery) for
suspected bowel obstruction.
provide continuous phototherapy while breastfeeding and
enable maximal skin surface exposure.
I Ef cacy of phototherapy lights can be measured with a com- ~
mercially available radiometer. ~ Physical exam.

~
I
checked every 6 to 24 hours. ~ Bilious vs. non-bilious.

I Transcutaneous measurements cannot be used during and up ~
to 48 hours after receiving phototherapy. x-ray, Upper GI, subspecialty consultation; this nding could
I Eyes have to be covered with eye patches. SO R be the only symptom of a volvulus and may present a surgical
I Infant can be removed for a limited time for feeding and emergency because of the risk of bowel necrosis.
bonding after decrease in bilirubin is documented.
I - ~ Elevated narcotic abstinence scores on an assessment scale. 14
feeding infants can be considered. ~ Encourage breastfeeding.
PART 2
~ Initiate comfort measures (swaddling, holding, minimal stimulation, ~
or dark room). percent of newborn males are currently being circumcised. 29

~ ~ The American Academy of Pediatrics currently justi es a medical
indication for circumcision based on preventive health bene ts
including a decreased incidence of urinary tract infection in rst
-
tal stay for up to 48 hours for a vaginal delivery and up to 96 hours transmitted diseases, and for penile cancer in circumcised males,
outweighing the risks of the procedure. 30
19
~ Physiologic stability. exam. 31 Risk factors include female gender, breech birth, or posi-
~ Family competence to provide newborn care at home. tive family history.
~ Assessment of family, environmental and social risk factors with
actions taken if needed.
~ PRO GNO SIS
~ Access to the health care system and resources, follow-up
appointments have been made.
~ No excessive weight loss. discharges. 32
~ No signi cant jaundice.
~ Feeding appropriately. feeding dif culties. 33
PREVENTIO N AND SCREENING

FO LLO W-UP
~ The incidence of hearing loss is approximately 1 to 3/ 1000 Follow-up with the primary care provider within 2 to 3 days or earlier
if there are speci c concerns. The follow-up visit should include:
~ Bene ts of early detection and intervention include higher
receptive and expressive language skills. ~ Weight loss beyond 3 days of age, >7 percent of birthweight or
~ Hearing screens at discharge by otoacustic emissions (OAE) or failure to regain birthweight by 10 days of age warrants evalua-
automated auditory brainstem response (ABR) are mandatory
in most states20 following the recommendations of the Joint
Audiology. 21
Recommended by Health and Human Services since September PATIENT EDUCATIO N

~
2011 and endorsed by the AAP. 22

~ Goal is to identify infants with critical congenital heart disease
Routine discharge teaching should include education about:
before infant becomes symptomatic, cardiac work-up is pursued
after positive screen. 23
~ Obtained between 24 to 48 hours of life by heelstick.

~ Included disorders vary by state. 24,25
gestational age. 34
~ Preterm infants are more prone to hypoxic events in a semi-upright
position. ~ Use of an appropriate car safety seat.

~
~ Supine positioning (“Back to sleep”) for sleeping with supervised
car seat and monitored by pulse oximetry for a set amount of tummy time while awake.
time, a minimum of 90 to 120 minutes or longer if expected to ~ Firm sleeping surface.
spend longer periods in a car. 26 ~ “Bare crib,” no loose blankets, or soft objects.
~ No positioning devices in cribs.
27
~ Avoid smoke exposure, alcohol and illicit drug use before and
schedule.
after birth.
~ Breastfeeding.
28
start in the rst few days of life. ~ Avoid overheating.
~ Room sharing, but no bed sharing.
PART 2
18 CHAPTER 4
~ Paci er use during sleep.

~ 2011;128:611-616.
Neonates with Suspected or Proven Early- Onset Bacterial Sepsis.

Pediatrics 2012;129:1006-1015.
PRO VIDER RESO URCES 11. American Heart Association: American Academy of Pediatrics: Text-
book of neonatal resuscitation 6th edition, edited by Kattwinkel JK.
Elk Grove Village,IL: 2011.
Obstetricians and Gynecologists: Guidelines for Perinatal Care,
edited by Riley LE, Stark AR. Elk Grove Village, WA; 2012.
Newborn. Pediatrics. 2003;112(1):191-192.

Neonatal Resuscitation Textbook, edited by Kattwinkel JK. American
Academy of Pediatrics and the American Heart Association: 2011.
N Engl J Med. 1989;320(12):

PARENT RESO URCES
769-772.
Caring for Your Baby and Young Child Birth
to Age 5. American Academy of Pediatrics. Elk Grove Village,
abstinence syndrome: assessment and management. Addict.
WA: 2009.
Dis. 1975;2(1-2):141-58.
Academy of Pediatrics, Elk Grove Village, WA: 2011. http://

www.marchofdimes.com/ baby/ bringinghome_indepth.html.
Obstetricians and Gynecologists: Guidelines for Perinatal
REFERENCES 2012:286-287.
16. American Academy of Pediatrics: Red Book: 2012 Report of the
2011. National Vital Statistics Reports. 2012;61(5):1-13. American Academy of Pediatrics, Elk Grove Village, IL:
2012:369-390.
2011. National Vital Statistics Reports. 2012;61(6):1-11. Academy of Pediatrics: Phototherapy to prevent severe neonatal
hyperbilirubinemia in the newborn infant 35 or more weeks of
gestation. Pediatrics. 2011;128(4):e1046-52.
. National 18. American Academy of Pediatrics Subcommittee on Hyperbiliru-
Vital Statistics Reports. 2012;60(5):1-13. binemia: Management of Hyperbilirubinemia in the Newborn
Infant 35 or More Weeks of Gestation. Pediatrics. 2004;114(1):
control and Prevention: Update on Overall Prevalence of Major Birth 297-316.
MMWR. 2008;57(01):1-5.
5. American Heart Association: American Academy of Pediatrics: Neona- Stay for HealthyTerm Newborns. Pediatrics. 2010;125(2):405-409.
tal Resuscitation Textbook, edited by Kattwinkel JK. American
Heart Association and the American Academy of Pediatrics: 2011. screening laws, http:// www.ncsl.org/ issues-research/ health/
newborn-hearing-screening-state-laws.aspx, Washington,
-
ican Academy of Pediatrics. The American College of Obstetricians and
Gynecologists: Guidelines for Perinatal Care, edited by Riley LE, Stark early hearing detection and intervention programs. Pediatrics.
AR. Elk Grove Village, WA; 2012:274. 2007;120(4):898-921.
-
Glucose Homeostasis in Late- Preterm and Term Infants. Pediatrics diac Surgery Executive committee: Policy Statement- Endorse-
2011;127(3):575-579. ment of health and human services recommendation for pulse
oximetry screening for critical congenital heart disease. Pediatrics.
expanded to include extremely premature infants. J. Pediatr. 2012;129(1):190-192.
1991;119(3):417-423. 23. Kemper AR, Mahle WT, Martin GR, et al. Strategies for Imple-
Pediatrics.
Newborn: Policy statement- Recommendations for the Prevention 2011;128(5):e1259-e1267.
PART 2
Newborn screening fact sheets. Pediatrics. 2006;118 (3):e934-63. Male circumcision. Pediatrics. 2012;130(3):e756-85.
25. American Academy of Pediatrics Newborn Screening Authoring
pediatricians and medical home- implications for the system. -

Pediatrics. 2008;121(10):192-217. opmental dysplasia of the hip. Pediatrics. 2000;105(4 Pt 1):
896-905.
Prevention, et al. Safe transportation of preterm and low birth weight
infants at hospital discharge. Pediatrics. 2009;123(5):1424-1429.
- Pediatrics. 2006;118(1):63-72.
United States. Pediatrics. 2012;129(2):385-386. birth hospitalization: patterns among infants of all gestations.
Arch. Dis. Child. 2005;90(2):125-131.
in infants, children, and adolescents. Pediatrics. 2008;122(5):1142-52. -

Healthcare Cost and Utilization dations for a Safe Infant Sleeping Environment. Pediatrics. 2011;
Project (HCUP): Circumcisions Performed in U.S. Community Hospitals, 128(5):1030-1039.
2009: Statistical Brief # 126. http://
PART 2
20 CHAPTER 5
5 PEDIATRIC PALLIATIVE CARE

Brooke Johnston, MD
De nise Powe rs-Fab ian, MSSA, LISW-S
Nancy Carst, MSW
Sarah Frie b e rt, MD
PATIENT STO RY
At 7 months of age, Blake (Figure 5-1) was diagnosed with a rare,

progressive malignancy. His initial admission was prompted by swell-
ing of his left lower extremity, and imaging studies revealed an extra-
renal rhabdoid tumor. His family experienced a rapid indoctrination
into the world of childhood cancer. Blake had a central line placed
and chemotherapy begun; his parents faced the accompanying chal-
lenges of work absence, needs of their other child, the responsibilities
of communicating complicated information to supportive communi-
ties, and the fear of losing their infant son. Six weeks later, Blake was
admitted for emesis and the detection of brain metastases lent new
gravity to his prognosis. A ventriculoperitoneal shunt was placed and
bone marrow studies performed. The Palliative Care service met
Blake, his parents, and 4 year-old sister shortly thereafter. Blake’s
family sought support in managing anticipatory grief, supporting and
preparing his sister, decision-making discussions, end-of-life plan-
ning, as well as in planning for life after his death. The Palliative Care
service also provided symptom control consultation for Blake’s disease-
related pain and agitation. Music and art therapies were helpful for
diversion and expression of dif cult emotions, particularly for Blake’s
sister. Blake received palliative chemotherapy which was temporarily FIGURE 5-1 Blake was d iag nose d with an e xtra-re nal rhab d oid tumor.
quite ef cacious and resulted in marked clinical improvement. He Blake ap p e ars he althy in his home at an e arly stag e of his d ise ase . His
p are nts e le cte d to have Blake ’s e nd of life in the hosp ital se tting as
would play, smile, engage those around him, and grant his family an the y fe lt most comfortab le with the re source s the re . He d ie d p e ace fully
unexpected gift of treasured time. Between admissions for chemo- in the comp any of his family. The Palliative Care te am re mains involve d .
therapy, his family was supported by local hospice, as well as the (Use d with p e rmission from Blake ’s family.)
on-call oncology and palliative care staff. Upon admission for a fourth
round of high-dose chemotherapy it became evident that the hydra- understood. It comprises a community of professionals trained in
tion therapy necessary for chemotherapy administration would medical, spiritual and psychosocial arenas. PPC provides support dur-
worsen Blake’s already tenuous respiratory status. His parents, who ing the unpredictable course of an illness, attends to needs at the time
had clearly expressed that they desired only therapies that would be of death, and supports grieving persons for the years leading up to
bene cial for Blake, wished to discontinue chemotherapy. Supportive and following the death of a child.
measures, including opioid treatment for pain and dyspnea, and ben-
zodiazepine infusion for anxiety and dyspnea, were titrated to address
clinical symptoms. Team members supported the family through this EPIDEMIO LO GY
decision-making process, and offered discussions regarding common
occurrences at the end of life. His parents elected to have Blake’s end
of life in the hospital setting as they felt most comfortable with the were 2,437,163 deaths in the US during the year 2009. 1 Of
resources there. He died peacefully in the company of his family. The these deaths, 48,033 were among persons under the age of
Palliative Care team continues to provide bereavement support. 19 years.
INTRO DUCTIO N ages of inclusion often vary. Some studies include children and ado-
lescents up to 19 years of age, while others include participants up
to 24 years of age. 2
Pediatric palliative care (PPC) is comprehensive, interdisciplinary,
compassionate, inclusive, adaptive and effective. Ideally, it begins at
the time a child or adolescent is diagnosed with a life-threatening ill- and worldwide. 3,4
3
ness (including prenatally) whether or not the etiology is completely
PART 2
PEDIATRIC PALLIATIVE CARE 21
known, studies of children with complex chronic diseases (CCCs)

rate of more than one million per year. In 2008, the most recent have shown the number of home deaths to be increasing in that
year for which data is available, 1,118,000 pregnancies ended in population. 10 A Canadian study of children receiving PPC, in an
pregnancy loss. Over one million pregnancies in the same year area offering pediatric hospice facility services, showed an even dis-
were electively terminated. 5 tribution of number of deaths among hospital, pediatric hospice
facility and home. 11
children under the age of one year divided by the number of live
births, was 6.39 in 2009. 1 Preliminary 2010 data predict a decrease percent died at home. Among hospice enrollees included in the
6
study, 55 percent died at home; 15 percent of children not
~ enrolled in hospice died at home. 12
whites was 5.30 for the same year, while non-whites had a rate at reduced rates when compared to whites. Authors proposed dis-
trust, cultural insensitivity, or lack of staff diversity as causes. 12
of 12.64. 6 In addition, home deaths among black and Hispanic children with
~
chronic illness were found to be signi cantly fewer than those
3
among white children. 10
~ Congenital malformations and chromosomal abnormalities are 963,000 hospice admissions in 2009. 2 A Michigan survey of pediat-
the most frequent cause of death among infants. ric providers with experience in end-of-life care cited medical and
~ Among children greater than one year of age, the most common non-medical support, preparation for death, care coordination and
cause of death is unintentional injury. digni ed death as bene ts of hospice care. Detractors were a sense
~ Malignant neoplasm is a common cause of pediatric death, par- of intrusion, loss of hope, and distrust. 13
ticularly for children under 14 years of age, and represents the
most common cause of disease-related death.
percent of hospice agencies care for children. Over 30 percent have
~ Homicide and suicide are the second and third leading causes of
pediatric programs and more than 20 percent have specialized staff
death in adolescents aged 15 to 19 years, respectively.
members who care exclusively for children. 2 An upcoming survey
conducted by the Center to Advance Palliative Care (CAPC) will
~ Twelve million children under the age of 5 years died in 1990. In detail more speci cally PPC services that are available in hospitals.
2011, deaths in this age group declined to fewer than 7 million, a
decrease of 41 percent. 7 year. Such grief has been shown to be more intense and of longer
~
duration than that experienced when mourning the loss of a
parent or spouse. Approximately 19 percent of people in the US
~
have been affected by the loss of a child in their nuclear or
decreased since 1990, by about 2.5 percent per year. The decline extended family. 14
Paci c countries have much greater decline than African and
Southeast Asian countries.
~ - ETIO LO GY AND PATHO PHYSIO LO GY
nutrition, pneumonia, preterm birth complications, diarrhea,
and malaria. 7
~
age group.
from 2004. In that year, 2.6 million persons aged 10 to 24 died
worldwide, with common causes including maternal conditions ~
(15%), traf c accidents (14% in males and 5% in females), preterm birth (<37 weeks gestation) in the US declined from
violence (12% males), and suicide (6%). 4 2007 to 2009. 1
~ A 2012 report on international adolescent health observed ~
maternal mortality as a signi cant contributor to adolescent mor- in multiple compared to singleton births, early obstetric inter-
vention, advanced maternal age and increased utilization of treat-
as suicide, traf c injury and violence—even among high-income ments for infertility. 1
nations—was also noted. 8
~ According to the March of Dimes, the most common serious
children dying with cancer Parents who have the opportunity to birth defects are congenital heart defects, neural tube defects
choose are more prepared for and comfortable with their child’s such as anencephaly and encephalocele, and hemoglobin disor-
end of life. 9 ders such as sickle cell disease and thalassemia. The US experi-
enced a 46 percent decline in birth defect-related mortality
precise number of children who die at home in the US is not between the years of 1980 and 2001. Such declines have been
PART 2
22 CHAPTER 5
observed in other nations with similar income levels; 95 percent previously referred to Child Protective Services. Parents are
of the 3.3 million annual deaths due to birth defects occur in most commonly the perpetrators. 23
middle or low-income nations. 15 ~ Deaths from homicide in 10 to 24 year-olds occurred at a rate of
~ Most deaths due to congenital heart disease occur in the rst year 14.1 per 100,000 in 1990. In 2009 the rate for 15-24 year-olds
of life or after the age of 18 years. 16 Congenital heart malforma- was 11.3 per 100,000. Males are more likely than females to
tions resulted in a death rate among infants of 38.8 annually. 1 commit or become a victim of homicide. Over 80 percent of
Between the years 1999 and 2006 there was a decrease in infant homicides involve a rearm and deaths due to homicide are most
mortality due to congenital heart disease attributed to improved common among non-Hispanic black adolescents. 24
surgical and catheter-based interventions. 16
~ Mortality due to sickle cell disease has decreased a result of iden- ~ Suicide occurred at a rate of 10.1 per 100,000 15 to 24 year-olds
ti cation with newborn screening and the routine administration in 2009. 1 More suicides are attempted by women than men, and
of pneumococcal vaccine and penicillin prophylaxis. 17 7 percent of high school students had attempted suicide in 2007.
~
On the other hand, more suicide completions occur in men (24).
live births in 2009. The rate decreased after 1998, when Approximately 4,600 adolescents and young adults die of self-
guidelines mandating forti cation of foods with folic acid were in icted harm each year. 25
instituted. 18 ~ -
cide of a family member, child maltreatment, physical or mental
~ Among persons between the ages of 1 and 19 years, the death illness, isolation, and access to means of committing an act of
rate due to unintentional injury declined 29 percent between the self-harm.
years 2000 and 2009. 19 ~ Protective factors include support from family and care provid-
~ Infant deaths from unintentional injury increased, primarily as a ers, problem-solving skills, and cultural or religious beliefs that
result of the increase in incidence of deaths due to suffocation. In preclude suicide. 26
2009, 907 infants died as a result of suffocation. 19
~ SIDS, or Sudden Infant Death Syndrome, is the most common ~
cause of sudden unexpected infant death (SUID). SIDS occurs in 1975 to 2006 show the incidence of childhood cancer to be
a child under one year of age and investigation including autopsy increasing, most prominently in acute lymphoblastic leukemia
does not reveal an etiology. 20 Over 2000 children died from
SIDS in 2009, a decrease of more than 50 percent since 1990. 20 the 1980s. 27
It is believed that safe sleeping recommendations such as ~
supine positioning have resulted in this decrease, as well as -

identi cation of tobacco smoke exposure, bed sharing, over- kin’s lymphoma than for solid tumors such as Ewing sarcoma,
rhabdomyosarcoma, or osteosarcoma. 27
loose bedding as risk factors. 21 In addition, accurate diagnosis ~ Overall, the survival rates for childhood cancers have been
of other causes such as suffocation, have caused a decline in the increasing for the last forty years. Of children diagnosed with a
incidence of SIDS. 22 pediatric malignancy, 80 percent will survive for at least ve
~ Poisonings among 15- to 19-year-olds nearly doubled between years from the time of diagnosis. 28 This represents a 50 percent
2000 and 2009, associated with an increase in prescription drug decline in death rates from childhood malignancy between 1975
misuse and deaths associated with prescription drugs. 19 and 2006. 27 These advances are attributed to the increased use of
~ Increased seat belt and child safety seat usage, decreases in alco- combination and multimodal therapies, enhanced knowledge
hol impaired driving, improved vehicle and road design and regarding molecular underpinnings of malignancy, and the cus-
licensing requirements are credited with a 41 percent decline in tomization of treatment regimens including advances in imaging
traf c-related deaths since 2000. Despite this, traf c-related and neurosurgical techniques. 29
deaths remain the most frequent cause of death due to uninten- ~
tional injury for persons aged 5 to 19 years. 19 persons living with long-term effects of cancer treatment. Cancer
~
survivors have an increased risk of death from cancer-related illness
die from unintentional injuries and great variation in death rates for as long as 30 years after diagnosis and an increased risk of death
exists between states. 19 from illnesses not related to their primary oncologic diagnosis.28
~ Deaths due to unintentional injuries occur more often in the US ~ Infants typically have poorer outcomes due to inadequate therapy
than in countries of similar economic status. 19 response, increased treatment-related morbidity, and therapy
limitations due to known adverse effects. 29
~ In 2010, the Department of Health and Human Services ~ Despite advances, most cancer deaths are due to leukemias,
reported 1,537 childhood deaths as a result of maltreatment followed by malignancies of the central nervous system. Total
such as neglect, physical, or sexual abuse. The majority of deaths from childhood cancers in 2006 numbered 2,035. 27
children who died as a result of maltreatment suffered multiple ~ Decreased survival rates can result from unfavorable genetic
types of abuse. Almost 80 percent of deaths occurred in children features and cancer subtypes, delayed detection and decreased
under the age of 4 years, with 40 percent of these in children likelihood of receiving therapy in accordance with a pediatric
under one year of age. Over 12 percent of families had been treatment regimen. 29
PART 2
~ Multiple studies have described ethnic disparity in cancer survival.

Proposed explanations include differences in access, genetic
predisposition to unfavorable subtypes, tendency toward poor
therapy response, co-morbidities, and inadequate monitoring. 29,30
~ Some studies have distinguished characteristics of deaths among

children with chronic illness from those of children without
health issues. The death rate among children with CCCs, such
as cancer, metabolic disorders and neuromuscular disorders, is
double that of age-matched peers without disease. At the same
time, the number of children with CCCs appears to be increas-
ing, largely as a result of improved technology and supportive
care. 10
DIAGNO SIS
have accurately predicted death in some populations. 31 The tool

accounts for factors such as mechanical ventilation, parenteral
nutrition, vasoactive medication dependence, presence of hospital-
acquired infection, and duration of hospitalization. A
(39.2%), oncologic (19.8%), respiratory 12.8%), and gastrointes-

tinal (10.7) diagnoses32 (Figure 5-2).
groups by prognosis and treatment availability. See Table 5-1 for

descriptions of the categories created and clinical examples of each.
Such categorization illustrates that patients and families will likely
utilize palliative care services in different ways over the trajectory
of their diseases and grieving processes and that each family has
needs unique to the experience. 33
-
ric patients and families who would bene t from palliative care
services. 34,35
essential that families are introduced to PPC at the time of diagno-
and patients access to resources for symptom management, nan-

cial and practical concerns, bereavement, decision-making and
spiritual support. These services should be offered alongside cura- B
tive efforts.
FIGURE 5-2 Bro the rs who d ie d from co mp licatio ns of Be cke r’s
Muscular Dystrop hy. The old e r b rothe r Bob b y (A) d ie d rst. The
curative efforts are ceased, or until they are very near death. 36 yo ung e r b ro the r Rayshawn (B) having ob se rve d the d e cline and
Barriers such as uncertain prognosis, language barriers and time d e ath of Bob b y ne e d e d sp e cial sup p ort me asure s. (Use d with
p e rmission from Bob b y and Rayshawn’s family.)
constraints, as well as inability of a family to accept illness as
-
ficient knowledge of palliative care and absence of staff mem- palliative care support, precisely because the disease trajectory
bers trained in palliative care have also been identified as is unknown. In addition, many illnesses are of unknown
barriers. 37 However, it has been proposed that situations of etiology and additional knowledge does not change treatment
diagnostic and prognostic uncertainty benefit greatly from early course. 38
PART 2
24 CHAPTER 5
TABLE 5-1 Cate g orization of life-limiting Illnesse s in Child re n
Gro up Inclusio n Crit e ria Examp le s

1 Life -thre ate ning : Cance r, irre ve rsib le org an failure , comp le x cong e nital
Curative tre atme nt e xists b ut p rog nosis unce rtain he art d ise ase , trauma, sud d e n se ve re illne ss,
e xtre me p re maturity
2 Life -limiting : Cystic b rosis, hyp op lastic le ft he art d ise ase with
Inte nsive life -p rolong ing tre atme nt p e rmits surg ical p alliation, muscular d ystrop hy, HIV/AIDS,
typ ical life style ; e arly d e ath characte ristic of se ve re short-g ut (TPN-d e p e nd e nt)
d ise ase
3 Long -te rm p rog re ssive d ise ase without cure : Sp inal muscular atrop hy typ e 2, ad re nole ukod ystro-
tre atme nt is e xclusive ly p alliative and may p hy, se ve re mitochond rial d ise ase , trisomie s 13 and
e xte nd ove r many ye ars 18, othe r le thal g e ne tic synd rome s
4 Ne urolog ical d isab ility with incre ase d Traumatic b rain injury, se ve re multip le d isab ilitie s
susce p tib ility to d ise ase and unp re d ictab le following b rain or sp inal cord malformations
course (hyd rane nce p haly, holop rose nce p haly, se ve re
hyp oxic ische mic e nce p halop athy)
Ad ap te d from Royal Colle g e of Pe d iatrics and Child He alth and Association for Child re n with Life -Thre ate ning or Te rminal
Cond itions and The ir Familie s’ A Guid e to the De ve lop me nt of Pe d iatric Palliative Care Se rvice s, 1997.
~ Ethical concerns—In contrast to competent adults, a child relies

CLINICAL FEATURES upon parents or a community to make decisions in his or her best
interest. 2 Children and adolescents have varying abilities to par-
ticipate in decision-making regarding their care though many
of prevalence vary among studies, but most frequently reported are children desire to be active in such discussions. 44
pain, fatigue, dyspnea, anorexia and depression, nausea and vomit- ~ Personnel and resource needs—Children require size-
ing, diarrhea, and constipation. 39,40 Many children also suffer from appropriate equipment and personnel trained in their care. In
anxiety, agitation, sleep disturbances, pruritus, cough, seizures, addition, children are dependent upon others for medical as well
and decubitus ulcers. 41 as non-medical needs. 2 Interdisciplinary support of the child and
family requires a diverse staff capable of providing spiritual, psy-
They are faced with social isolation, nancial burdens, responsibili- chosocial, bereavement, medical, and decision-making support.
ties for complicated medical care, obligations to other children and ~ Other distinctions include a relative paucity of literature to guide
communities, as well as physical and psychological challenges that assessment and management, increased use of in-home care and
accompany their predicament. 42 decreased use of long-term care facilities, loss of anticipated life of
normalcy, increased use of life-sustaining technology that requires
discontinuation prior to death, and varied models of care delivery.45
MANAGEMENT
~ At the time of diagnosis, establishment of a supportive therapeu-
tic relationship involving honest, open, and respectful communi-
~ ~ Introduction of palliative care services and staff members as well

prenatal diagnoses as well as adults suffering from childhood as patient and family members.
illnesses. 2 ~
~ Unpredictable trajectory of illness—Due to the small numbers of their illness experience and other information about the persons
children with terminal illnesses, relative to adults, it is dif cult to involved, if desired by patient and family.
establish standardized expectations. 2 Most children survive for ~
more than a year after being referred to pediatric palliative medi- I
cine services. 32 In contrast, hospice studies have observed I Prognosis and illness trajectory.
decreasing lengths of service, with almost 50 percent of patients I Bene ts and burdens associated with treatment options.
dying or being discharged within 2 weeks of service initiation. 43 I Symptoms and complications along with available interventions.
~ Challenging symptom management—Many medications are not I Sources of support for predicted changes in family life (38).
tested in pediatric populations, and their use in children is off- ~ It is preferable to discuss these matters in a series of conversa-
label. In addition, symptom assessment can be challenging tions, the rst of which could include diagnosis and general prog-
because of limits in communication ability, either age-appropriate nosis information, as well as other information as desired by
or due to disease or treatment. patient and family. 38
PART 2
~ Periods of silence may serve as opportunities for processing of

information as well as invitations for patients and family mem-
bers to express emotion, information need or other concerns.
~ It is helpful for meetings to conclude with a discussion of next
steps and a plan for future communication. Thorough documen-
tation ensures that all providers understand the plan of care and
associated family priorities.
~ Clari cation and reevaluation of goals of care (i.e., longevity of
life, freedom from mechanical ventilation, school participation,
opportunity to take a trip or experience a speci c life event) may
enhance the decision-making process.
46 FIGURE 5-3 Praye r ag s as e xp re ssive the rap y for a child cop ing with
~ Under- the thre at of d e ath from an incurab le d ise ase .
standing this motivation may allow providers to identify with
parents who comprehend the unlikelihood of cure but who are
unwilling to discontinue curative therapies.
~ Grief work begins at the time of diagnosis, as families mourn
~ Updated advance directives re ect preferences in regard to medical
the loss of the life they had envisioned for themselves and their
treatment. Decisions may include the allowance of natural death,
children. Bereavement specialists may establish relationships with
the discontinuation of medically-provided nutrition and hydration,
families and begin the lifelong process of grieving. These staff
continuation of antibiotic therapy to treat infection, or the refusal of
members may also assist with funeral planning, sibling support,
chest compressions and medications for cardiac resuscitation. Pref-
memory-making, and preparing families for what is to come.
erences should be documented and shared with other medical pro-
Anticipatory grief work is particularly important in families
viders, schools, and local emergency medical services.
where serious illness and death has been encountered previously;
~ Parent-child relationships continue within the context of a child’s
Figure 5-2B), who knew what his future held
illness. A child’s preferences may be affected by a desire to please
from watching his older brother Bobby (Figure 5-2A) die of
her parents. 47 In contrast, a desire to establish control and inde-
muscular dystrophy, nonpharmacologic outlets for his anxiety,
pendence may predispose an adolescent to make choices that do
-
not mimic those of his parents.
tions from the palliative care team.
~ Memory-making may include tangible reminders such as plaster
~
molds or ink prints of hands or feet, photographs of special
life, though now with increased nancial and emotional stress- events or family members with the child, songs, poems or writ-
ors and decreased time and resources. 46 The extent to which a ings, or videos, voice recordings and letters that allow patients
serious illness strains the constructs of a family system cannot to preserve special messages. See the photograph of Camden
(Figure 5-4), who died shortly after birth, due to prenatally-
challenges to marital, sibling and parent-child relationships as diagnosed renal agenesis.
well as to those with extended family and other communities. ~ Complicated grief may involve inability to engage in life activi-
Medical expenses and missed work can result in signi cant ties, depression, isolation, compromised self-esteem, or even
nancial hardship. The demands of caring for an ill child can suicidal ideation. 48
result in decreased attention to other family members by the
primary caregiver, as well as insuf cient opportunity to care for
him or herself.
~ Support may include assistance with living expenses and trans-
portation needs; child care, school absence and processing needs
of siblings and parents as well as anticipatory grief work; work
navigating the extensive web of available resources.

I Child life specialists utilize play to facilitate communication of
medical information to a patient, as well as to address anxiety
of patients and siblings. 41
I Expressive Therapies involve writing, artwork, music, dance,
spoken word, lm and any medium that is meaningful to
patients and families. They permit processing of dif cult cir-
cumstances by individuals of differing abilities and interests. As
an example, Figure 5-3 shows prayer ags made by Brandon,
a teenage patient with Spinal Muscular Atrophy. Such modali-
ties are particularly helpful for children and patients who have FIGURE 5-4 Camd e n d ie d shortly afte r b irth, d ue to p re natally-
d iag nose d re nal ag e ne sis. The family had this sp e cial p hotog rap h
communication limitations, as well caregivers facing limited taken to provide a lasting memory of their child. (Photo b y Brent Watkins,
time to process the coming loss. 48 Sylvart Stud ios. )
PART 2
26 CHAPTER 5
~ Staff members trained to listen and respond to spiritual concerns guilt and exhaustion. The stressful circumstance can exacerbate
of patients and families may provide needed support, learn about existing struggles such as marital or nancial strain. Caregivers
culture-speci c needs at the time of death, and provide space for
discussion of dif cult questions raised by such challenging cir- services provided by facilities or community members may
cumstances. 49 In addition, some families desire baptisms, bless- relieve some of this strain. Caregivers may also be helped by
ings or other rituals at or in preparation for the end of life or supportive providers who identify home health, transportation,
simply the presence of a spiritual care provider. nancial, and spiritual resources that meet existing and future
needs. 52
and effective symptom management, and documentation of events.
~ Adequate personnel, medications and supplies will ensure timely care parental attention, travel for hospitalization(s), guilt, fear of
“catching” the illness, embarrassment, social isolation and lifestyle
at the end of life as well as options for management, see Table 5-2. change, and observing sibling suffering. 52 Helpful interventions
~ - can be designed to t a sibling’s developmental level and needs.
mentary and alternative therapies while receiving hospice care. Conversations to discuss information at the sibling’s level of
Some hospices offer massage, pet, guided imagery, aromather- understanding are helpful, some with parents and some with
apy, expressive arts, and therapeutic touch therapies. 50 trusted team members such as bereavement coordinators, child
~ life specialists, or medical care providers, including the child’s
dying child. Efforts should be made to accept and accommodate primary care physician. Maintenance of these relationships after
varied means of expression. the death is helpful as siblings re-experience their grief through
~ In some cases, allowance of a natural death involves discontinua- stages of development. Siblings may also bene t from support
tion of life-sustaining therapies that are no longer bene cial. Ben- groups, appropriate engagement in research and decision-making,
e ts and burdens of mechanical ventilation, medically-provided memory-making, or simply the option to participate in activities
hydration and nutrition, chemotherapy regimens, dialysis, and that were important prior to life changes due to illness. 52
other interventions should be discussed with patients and families. -
~ Also considered is the desired location for death. Planned discon-
tinuation of no-longer bene cial life-sustaining therapy may from medical expenses and the need to cease working to care for
occur in a private area of a hospital, allowing families time during
to respite care, home nursing, housing that can accommodate
area hospice or other service provider, the process can occur in medical equipment, child care for siblings, and transportation.
- Some things that a child wishes to accomplish before his or her
pate symptoms likely to accompany the change in support and death are facilitated by wish organizations or local charities. 52 In
ensure access to appropriate treatments. short, families who have had adequate resources for their life
before illness often nd these same resources insuf cient for their
and a physical exam to con rm lack of response to respectful tactile “new normal.” Contact information for organizations and infor-
stimulation, absent pulse, respiratory effort, or pupillary response. mation sources are listed in the resources sections later in this
- chapter.
ti cate must be completed by a physician and include cause of death
and time of death recorded. A note recording end-of-life events is facilitate communication about a child’s preferences regarding treat-
also crucial. ment plans, comfort measures, how a child would like to be treated
by those around him or her and what the child would like to
situations of unexpected death, suspected harm, or unknown cause communicate to caregivers and loved ones. 53
-
tions, families should be offered an autopsy; autopsies can answer
families’ questions regarding cause of death and indicate if testing
of family members is indicated. 51 during the dying phase. Soliciting speci c concerns will allow them
to be addressed adequately.
PATIENT AND FAMILY EDUCATIO N donors. Deaths of patients desiring to donate heart valves and cor-
AND SUPPO RT nea tissue may occur at home; if donation of solid organs is desired
the death must occur in the hospital. 54
-
ling, or friend of a dying child—involves assessing what they children with serious illness. Small studies suggest that PMDs play a
already understand and what they wish to know. 51 Expressive arts, diminished role, likely due to assumption of care by hospital-based
role-playing and play-based therapies can be helpful. It is of note physicians and lack of training in end-of-life care for primary medi-
that withholding information may produce more anxiety in children, cal doctors. However, funeral attendance and attention to grieving
who are apt to create their own explanations for what they observe. siblings were noted as signi cant by some parents.
PART 2
TABLE 5-2 Commo n Symp to ms in Pe d iatric End of Life
Symp t o m Cause s Manag e me nt

Ag itation Me d ications, infe ction, p ain, e nvironme nt Re vie w me d ications, d e cre ase stimulation; b e nzod iaz-
e p ine s, halop e rid ol, p he nob arb ital
Anore xia Malig nancy, loss of muscle mass Ap p e tite stimulants (me g e strol ace tate , me d roxy-
p rog e ste rone ace tate , cannab inoid s)
Anxie ty Ap p re he nsion, g rie f, p ain Hyp nothe rap y, CBT, e xp re ssive the rap ie s, b e nzod iaz-
e p ine s, SSRIs
Constip ation De hyd ration, lack of d ie tary b e r, op ioid s Stool softe ne r, laxative , osmotic ag e nt, e ne ma. O p ioid
antag onist
Coug h GERD, p e ricard ial or p le ural irritation, O p ioid s, p ositioning , assiste d coug h, b ronchod ilators,
asp iratio n, malig nant comp re ssion, ne b ulize d saline , mucolytic me d ications
airway irritants, b ronchosp asm
De p re ssion Isolation, fatig ue , circumstance Se le ctive se rotonin re up take inhib itors, tricyclic
antid e p re ssants, p sycholog ical counse ling
Diarrhe a Me d ications, infe ction, b e r Anticholine rg ics, op ioid s, octre otid e for se cre tory
sup p le me ntation d iarrhe a
Dysp ne a Air hung e r Environme ntal the rap ie s such as re p ositioning or
incre asing amb ie nt air ow; sup p le me ntal oxyg e n
+/− p ositive p re ssure , b ronchod ilator, mucolytic,
op ioid , b e nzod iaze p ine
Fatig ue Ane mia, incre ase d work of b re athing , Tre at und e rlying cause , stimulants (me thylp he nid ate )
me d ications, p oor nutrition, insomnia
Nause a/ Che mothe rap y, constip ation, he art failure , Antie me tics, tre atme nt o f und e rlying cause s,
Vomiting anxie ty, org an failure , d ysmotility inte g rative the rap ie s such as b iofe e d b ack,
acup uncture or aromathe rap y
Pain Me tastase s, muscle sp asm, tissue injury, Ge ne ral: op ioid s, inte g rative the rap ie s such as music,
vaso-occlusive e ve nt, immob ility, massag e , imag e ry
comp re ssion, infe ction Ap p rop riate ad juvants
Ne urop athic p ain: anticonvulsants, NMDA antag onists,
antid e p re ssants
Muscle sp asm: b aclofe n, d antrole ne , b e nzod iaze p ine s
Bone p ain: NSAIDs, rad iation, b isp hosp honate s
Pre ssure ulce rs Moisture , d e cre ase d se nsation, friction, Sp e cialize d mattre ss and b e d d ing , re g ular
d e cre ase d mob ility, p oor nutritional re p ositioning , b arrie r cre ams, op timize d nutrition
status status
Pruritis Me d ications, malig nancy, chole stasis Antihistamine , top ical e mollie nt, chole styramine /
rifamp icin for chole stasis, ste roid s in malig nancy
Se izure s CNS malig nancy, fe ve r, e le ctrolyte AED ap p rop riate for se izure typ e , b e nzod iaze p ine s,
ab normality, me d ication, me tab olic surg e ry for re fractory se izure s
d ise ase
Sle e p Dif culty Brain injury, d aytime se d ating Give se d ating me d ications at nig ht, sle e p hyg ie ne ,
me d ications, e nvironme nt me latonin, d ip he nhyd ramine , b e nzod iaze p ine
(for short-te rm use only)
AED – antie p ile p tic d rug ; CBT – cog nitive b e havioral the rap y; CNS – ce ntral ne rvous syste m; GERD – g astroe sop hag e al re ux
d ise ase ; NSAID – non-ste roid al anti-in ammatory d rug ; NMDA – N-me thyl-D-asp artate ; SSRIs – se le ctive se rotonin re up take
inhib itors.
PART 2
28 CHAPTER 5
TABLE 5-3 Comp one nts of Psychosocial Asse ssme nt for Familie s of a a member of the staff to contact the family a few days after the death.
Child with Life -Thre ate ning Illne ss Some sources recommend phone calls or visits at predicted intervals
Co mp o ne nt s o f Psycho so cial Asse ssme nt such as 3 months, 6 months, 1 year, and beyond as families desire. 42
Living arrang e me nt s Continued support may take the form of funeral attendance, phone
Family comp osition calls, letters commemorating a birthday or day of death, or hosting
Pe rsons living in home an annual memorial service for grieving families.
Marital status of p atie nt and care g ive rs
Guard ianship /custod y issue s regarding the death of a child and the care received, opportunities
Safe ty/acce ssib ility to share a child’s story with new staff members or learners, or con-
Family charact e rist ics versations with subspecialty providers involved in a child’s care.
De cision-making p ractice s
Cultural consid e rations CO NCLUSIO N
He alth status of family me mb e rs
Stre ng ths Children with life-threatening conditions and their families are likely
Source s of income to encounter physical, psychosocial, spiritual, emotional, and practi-
Me d ical te chnolog y utilization (fe e d ing , line s, cal challenges. Interdisciplinary PPC services offer support for fami-
re sp iratory e q uip me nt) lies facing such challenges and are integral whether illness ends in
Acce sse d sup p o rt s cure or death and bereavement. PPC involvement beginning at the
Hosp ice time of diagnosis provides an extra layer of support for children and
Waive r/insurance families throughout their dif cult journeys.
Social se rvice ag e ncie s
Ed ucation p lans/schools PATIENT AND FAMILY RESO URCES
The rap ie s/re hab ilitation ne e d s www.wish.org
Le isure /re sp ite p ractice s www.starlight.org
Social ne tworks
Source s of stre ng th www.togetherforshortlives.org
Sp iritual p ractice s, b e lie fs, associations www.familyvoices.org
Und e rstand ing of illne ss
Cop ing me chanisms www.chpcc.org
Life chang e s and losse s associate d with illne ss
Pre d ominant conce rns and challe ng e s PRO VIDER RESO URCES
Pract ical co nsid e rat io ns www.capc.org.
Activitie s of d aily living assistance ne e d e d
Transp ortation (AAHPM)—www.aahpm.org.
Proximity to re source s (the rap ie s, faith community,
sup p ortive p e rsons)
Care g ive r e mp loyme nt Palliative Medicine—www.aap.org-section.
Le g al matte rs
www.nhpco.org/ pediatrics.
When Children Die: Improving Palliative and End-of-Life Care for
Children and Their Families
Protection and Affordable Care Act, children receiving Medicaid are Academies; 2003.
eligible for the hospice bene t even if receiving curative therapies. Palliative Care for Infants, Children and Adolescents, a textbook
This is substantially different from the restrictions upon adults
receiving hospice care, who exclusively receive supportive care.
-
child with life-threatening illness is found in Table 5-3. tive Care—http:// pediatrics.aappublications.org/
content/ 106/ 2/ 351.full.
FO LLO W-UP
REFERENCES
child, as this is a valuable part of the grieving process. They may appre- National Vital Statistics Reports. 2011;
ciate the opportunity to bathe, dress, or simply hold their child. 48,55
- NHPCO facts and gures: Pediatric palliative and hospice
tionship to providers who were involved. 48 It may be appropriate for care in America
PART 2
-
tional injury deaths among persons aged 0-19 years-United
1, 2013. States, 2000-2009. MMWR.
20. Centers for Disease Control and Prevention. Sudden unexpected
Annual summary of vital statistics. Pediatrics
21. Centers for Disease Control and Prevention. Eliminate disparities
infant.htm. Atlanta, GA; 2007.

2012. Pediatrics. 2010;
-
nancy rates and rates of pregnancy outcomes for the United 23. Department of Health and Human Services. Child Maltreatment
States, 1990-2008. National Vital Statistics Reports
NCHS
Data Brief
Trends in adolescent and young adult health in the United States.
Journal of Adolescent Health
8. Patton GC, Coffey C, Cappa C, et. al. Health of the world’s

Lancet. html. Atlanta, GA; 2012.
of death. Journal of Pain and Symptom Management

Journal of
place of death among children with complex chronic conditions Clinical Oncology.
in the United States, 1989-2003. JAMA
-
report on location of death in paediatric palliative care between
home, hospice and hospital. Palliative Medicine. study. Journal of Clinical Oncology
-
- in the US by race and ethnicity for the diagnostic period 1975-
tors that affect hospice expenditures. Journal of Palliative Medicine. 1999. Cancer.
13. Dickens DS. Comparing pediatric deaths with and without hos- children with cancer. Pediatr Blood Cancer.
pice support. Pediatr Blood Cancer.
-
a child and the subsequent health of parents. Palliative and Support- unit. Clinics
ive Care
15. Christianson A, Howson CP, Modell B. Executive summary of March Pediatrics.
of Dimes global report on birth defects: the hidden toll of dying and dis-
abled children
-
A guide to the development of children’s
Mortality resulting from congenital heart disease among children palliative care services: report of the joint working party
and adults in the United States, 1999 to 2006. Circulation. 2010; 1997.
disease-related mortality in the United States 1983-2002. Journal Center to Advance Palliative Care. Journal of Palliative Medicine.
of Pediatrics
anencephaly before and after the folic acid mandate-United States =

1995-1996 and 1999-2000. MMWR
PART 2
30 CHAPTER 5
Perceptions of and Preferred Timing for Pediatric Palliative Care. with cancer. CMAJ.
Pediatrics. 2009;123;e777.
Palliative Care for Infants, Children and Adolescents, edited by B
Pediatrics
Decision Making, in Pallia- -
tive Care for Infants, Children and Adolescents, edited by B Carter, M sions, in Palliative Care for Infants, Children and Adolescents,
the end of life in children with cancer. The New England Journal of
Medicine.
National Health Statistics Reports.
Journal of -
Clinical Oncology tional abilities, in Palliative Care for Infants, Children and Adoles-
Symptoms, in Palliative Care for Infants, Children and Adoles-
family, in Palliative Care for Infants, Children and Adolescents,

-
chosocial and Bereavement support of family caregivers of pallia-
tive care patients. Journal of Palliative Medicine 53. Aging With Dignity. Five Wishes Resources: Pediatric My Wishes.
Textbook of Palliative Care for Children, edited by A Gold-

-
dren and carers’ views. Child Care Health Dev
Caring for Pediatric Patients,
in UNIPAC: A resource for Hospice and Palliative Medicine Physicians,
Arch Pediatric
Adolesc Med
PART 2
SO CIAL JUSTICE 31
6 SO CIAL JUSTICE Along the way, we sometimes lose ourselves in the day-to-day struggles,
disappointments, obligations, fatigue, and the profound helplessness that
Mind y A. Smith, MD, MS descends upon us after a particularly bad day. But we are still here, and if
Richard P. Usatine , MD we listen with our hearts we are still capable of great and small things.
We are privileged in so many ways and we must recognize our power
over ourselves and over the communities that we serve. It is easy to
Of all the forms of inequality, injustice in health care is the most shocking become overwhelmed by the problems that we face as clinicians and as
and inhumane. fellow human beings. Our health care system is in shambles, our natural
world is being poisoned, our nations are continually at war, and yet, as
—Martin Luther King, Jr.
this chapter highlights, there is so much that we can do—we can
listen, we can observe, we can witness, we can bring aid, we can
The rst question which the priest and the Levite asked was: “If I stop to help
touch, we can love, and we can lead.
this man, what will happen to me?”But . . . the Good Samaritan reversed the
The text that follows highlights just a few examples of the ways in
question: “If I do not stop to help this man, what will happen to him?”
which our colleagues are challenging themselves to nd creative
—Martin Luther King, Jr. solutions to the many problems faced by those who are underserved,
displaced, or suffering.
PATIENT STO RIES
At only 5.5 pounds (10 pounds less than the fth percentile for DO CTO RS WITHO UT BO RDERS
weight on the World Health Organization’s growth chart), an (ANDREW SCHECHTMAN, MD)
8-month-old boy suffered from severe malnutrition. In the summer
of 2003, amidst the height of Liberia’s civil war, his aunt brought him
to the Médecins Sans Frontières/ Doctors Without Borders hospital EPIDEMIO LO GY
for treatment. Because of the war, his family had been forced to ee
from their home, leaving behind their usual methods of getting food. The United Nations (UN) High Commissioner for Refugees reported
Dr. Andrew Schechtman was there to help the day the child was that in 2011 there were 10.9 million refugees (those displaced across
brought to the clinic in Liberia (Figure 6-1). Despite the best avail- an international border) and 27.5 million internally displaced persons
able treatment for the malnutrition and concurrent pneumonia, the (IDPs, those displaced within their own country). 1 At the end of
boy died on his third hospital day. 2010, the UN refugee agency was caring for an estimated 14.7 mil-
lion of these IDPs. During times of a complex humanitarian emer-
O UR STO RIES AS CARING CLINICIANS gency (de ned as a humanitarian crisis in a country, region, or society
where there is a breakdown of authority resulting from internal or
Those of us who become pediatricians or other health care providers do so external con ict and which requires an international response that
for many reasons. One reason is because of a desire to help someone else. goes beyond the mandate or capacity of any single agency and/ or the
ongoing UN country program), the following usually occur:2
assistance.
activities.
ETIO LO GY
People can be displaced from their homes by manmade (war or per-

secution) or natural disasters (tsunami, earthquake, or hurricane).
War is responsible for most of the displacement. Some of the source
countries accounting for the most refugees are Afghanistan, Sudan,
FIGURE 6-1 Dr. And re w Sche chtman was the re to he lp the d ay a Somalia, the Palestinian territories, and Iraq.
se ve re ly malnourishe d child was b roug ht to the clinic in war-torn
Lib e ria. De sp ite the b e st availab le tre atme nt that could b e p rovid e d in
the Doctors Without Bord e rs hosp ital, the child d ie d of comp lications
of malnutrition and p ne umonia—a casualty of war and p ove rty. (Use d humanitarian emergencies in less-developed countries. Children
with p e rmission from And re w Sche chtman, MD.) younger than 5 years of age are the most vulnerable. 2 Other
PART 2
32 CHAPTER 6
priority areas include provision of adequate safe water, food, shel- new interpersonal and technical skills, teach cultural competency, and
ter, and protection from violence. enhance their knowledge base about health issues faced by their host
country and management of many of these health problems. Students
affected populations in less-developed countries (measles, malaria, express great interest in these experiences. In a survey of medical stu-
pneumonia, and diarrhea), crowded settlements may be prone to dents at Sanford School of Medicine, University of South Dakota,
outbreaks of cholera, meningitis, and other diseases, which can be almost 95 percent of students indicated they were either very inter-
rapidly spread. Such outbreaks may be explosive and cause many ested or somewhat interested in serving internationally during medi-
deaths in a relatively short period of time. cal school or later during their career. 4 Following these experiences,
students report having greater clinical skills, being more culturally
competent, and are more likely to choose a primary care specialty
PRO BLEM IDENTIFIED and/ or a public service career. 5,6
In times of stability, writes Dr. Andrew Schechtman, many of the poor-

est people in the world succeed in their struggle to meet basic needs for ETIO LO GY
shelter, food, and water. When displaced from their homes by man-
made or natural disaster, communities and extended families are dis- Peru, as the host country, is a nation of 29,988,000 people. The
rupted, access to food and water are lost, and marginal circumstances gross national income per capita is $9,440, making it one of the poor-
become desperate. Displaced people are often dependent on the sup- est nations in the region. Peru’s total per capita expenditure on health
port of the international aid community to meet their basic needs. also falls far below its neighbors, by nearly tenfold, and the health
workforce of 9.2 physicians per 10,000 population and 12.7 nurses
and midwives per 10,000 population is inadequate to meet the
BEING PART O F THE SO LUTIO N nation’s health care needs. Based on the World Health Organization
database, more people die of communicable disease in Peru than the
When infrastructure collapses as a result of manmade or natural disas- regional average (37% versus 20%, 2008 data) and the probability of
ters, access to health care can be limited or nonexistent. Serving as a dying under age 5 years, although greatly improved since 1990 is
volunteer physician with Médecins Sans Frontières (Doctors Without 18/ 1000 live births, similar to the regional average. Communicable
Borders) allowed Dr. Schechtman to provide medical care to people in diseases such as infectious diarrhea, tuberculosis, hepatitis, dengue
desperate circumstances who had nowhere else to turn for assistance. fever, and typhoid fever are widely seen, and malaria, bartonellosis,
Bearing witness to tragedies such as the case described in Figure 6-1 leishmaniasis, and yellow fever are endemic in speci c areas of the
gave him another means to help, that is, the authority to speak out on country. All are potentially preventable through vaccinations and
behalf of victims like this child, focus public attention on the situation, preventive health measures.
and encourage political pressure to bring the ghting to an end. As global citizens, we can’t ignore these health issues, particularly
those of us in wealthier nations living in relative af uence. The brave
among us actively work for change. While many schools offer global
health experiences, the challenge to educators in the academic insti-
GLO BAL HEALTH: PERU HEALTH tution, medical care providers in the host country, and policy makers
O UTREACH PRO J ECT (SANGEETA is to create regulatory frameworks and curricula that are current and
relevant. 8 This requires a level of understanding of globalization on
KRISHNA, MD) medical education, and the underlying ethical, cultural, and health
issues to prepare students for the planned experience and to practice
competently in a globalized world. The following should be consid-
EPIDEMIO LO GY
ered in creating global health electives for medical students or
residents:
Global health can be de ned as the health of populations, which tran-
scends national and international borders. As such, global health
involves the perspectives of economics, epidemiology, medicine, honoring the integrity of medically underserved populations. 9
public health, and many of the social sciences for measuring, under-
standing, and providing care to improve health and achieve equity in learner, and different types of training for the types of physicians
health for all people. The health issues faced on a global scale are stag- preparing to work in the global health community—the “globalized
gering. Worldwide, one billion people lack access to health care sys- doctor,” “humanitarian doctor,” and the “policy doctor.”10
tems. 3 Non-communicable diseases such as cardiovascular disease,
cancer, chronic lung disease, and diabetes cause about 36 million
the health care delivery system in the host country.
deaths per year, and communicable diseases including AIDS/ HIV,
tuberculosis, malaria, and measles cause about 6.7 million deaths
annually. Over 7.5 million children under the age of 5 years die from adequately preparing them prior to going to the host country on
malnutrition and mostly preventable diseases each year. 3 the nature of the host country culture, health care system, and
Global health experiences can complement and enhance physician assignment site. 11
training in many ways. For the student, these experiences can bring
PART 2
SO CIAL JUSTICE 33
experience, to enable them to support and guide students during

their global experience.
PRO BLEM IDENTIFIED
Dr. Krishna’s involvement in “global health” began when, as a

medical student in India, she witnessed a cholera epidemic in the
neighboring country of Bangladesh. Overnight there was an in ux
of sick, dehydrated refugees at the doorsteps of the hospital where
she was training. Intravenous lines were inserted before histories
were taken. As the epidemic spread into the local communities,
the vaccine fell into short supply and populations at risk received
only one dose instead of the 2 recommended doses of Cholera vac-
cine. This left her with many unanswered questions regarding the
ef cacy of a single vaccine dose, the ethics of “good enough,” and
how to dive into such issues when the opportunity arose. Now on
staff at the Cleveland Clinic, Dr. Krishna had the opportunity to
participate in and subsequently direct the Peru Health Outreach
Project (PHOP), a formal elective for medical students at her
institution.
BEING PART O F THE SO LUTIO N FIGURE 6-2 A 3-ye ar-old g irl with no p rio r me d ical care arrive d at the
fre e clinic in Chincha, Pe ru. She was unab le to sit up without sup p ort,
or say a fe w word s. He r e xam was sig ni cant for g lob al d e ve lop me ntal
The PHOP was started in 2007 by four medical students at the d e lay, hyp otonia and an umb ilical he rnia. An e le vate d TSH, which was
Lerner College of Medicine (Cleveland Clinic) and Case Western o b taine d at a sub sid ize d p rice b y the clinic, co n rme d o ur susp icion
Reserve University School of Medicine. The mission of this student- o f co ng e nital hyp o thyro id ism. She was re fe rre d to an e nd o crinolog ist
in a te rtiary care hosp ital in the cap ital city of Lima and starte d on
led staff-mentored project is to collaborate with health care profes- thyro id hormone sup p le me nt. (Use d with p e rmissio n fro m Sang e e ta
sionals in Peru to provide ethical and sustainable medical care to the Krishna, MD.)
underserved in the Sacred Valley of Peru. Since inception, it has con-
tinued to grow exponentially due to student interest and participa-
tion. Students participate in clinics; vision screening; well child
checks (Figures 6-2 and 6-3); diabetes screening; counseling regard-
ing hygiene including dental, lifestyle modi cations, healthy diet;
prophylaxis for Vitamin A de ciency (Figure 6-4); and research. In
collaboration with physicians in Peru, the students also organize and
hold a 2-day educational symposium for local health care workers.
Speakers have included staff members and students with topics rang-
ing from CPR to recognition of high-risk pregnancies and common
respiratory illnesses in children.
Students continue to provide very positive feedback from this
elective. As one student wrote, “I learned a great deal about cross-
cultural communication and humility. In terms of global health,
I’ve learned that there’s a lot that needs xing out in the world,
particularly in the Sacred Valley of Peru, and that we need to search
for a sustainable mechanism to help that involves and empowers
the local residents to take charge of their own health and that of
their neighbors. In terms of leadership, I’ve learned a lot about
working with a team of people from all different backgrounds
toward a common goal. I’ve learned that it can be extremely chal-
FIGURE 6-3 Dr. Sang e e ta Krishna is e xamining an 11-ye ar-o ld g irl
lenging at times but that the best way to come to a compromise is from a re mote community of 200 p e op le in And e an Pe ru whe re a
to encourage and use effective communication. Overall, I would he alth care worke r was availab le only once a ye ar. She had b e e n
say the Peru Trip has been one of the greatest learning experiences involve d in an accid e nt that le ft he r le ft arm p artially p aralyze d . She
lacke d acce ss to me d ical care for ye ars. She was taug ht stre ng the ning
for me during my rst two years of medical school, teaching me e xe rcise s with the he lp of a p hysical the rap ist. (Use d with p e rmission
lessons I will take with me through the rest of my career and life. from Sang e e ta Krishna, MD.)
PART 2
34 CHAPTER 6
greatly increases the risk of disease and early death, particularly in young
children where protein-energy malnutrition plays a major role in half of
all deaths of children under age 5 years annually in developing countries.12
Worldwide, malnutrition affects one in three people and is especially
common among the poor and those with inadequate access to health edu-
cation, clean water, and good sanitation. About 26 percent of children
with protein-energy malnutrition live in Africa. Severe forms of malnutri-
tion include marasmus, iodine de ciency, which can result in cretinism
and irreversible brain damage, and vitamin A de ciency, which can result
in blindness and increased risk of infection and death.12
Worldwide, 2.4 billion people will remain without improved sani-
tation in 2015 and in 2011, 768 million people relied on unimproved
drinking-water sources. In most of Africa, sanitation coverage is less
than 50 percent. 13 Ethiopia and its neighbor Somalia are among the
few remaining countries in Africa with < 50 percent of the population
using improved sources of drinking water. 13 Piped drinking water
supplies, associated with the best health outcomes, are present for
FIGURE 6-4 Vitamin A p rop hylaxis being provid ed for the schoolchildren
of this remote Peruvian village. Vitamin A de ciency is common in devel- only 1 to 10 percent of Ethiopia’s population.
oping countries and can result in blindness along with an increased risk of
infection and death. (Used with permission from Sangeeta Krishna, MD.)
ETIO LO GY
It has been truly life-changing.”—Andrea Grosz, Case Western
Reserve University School of Medicine, class of 2014. Ethiopia has a population of over 91 million people. The gross national
The Project leadership has also established a seminar series at the income per capita is $1100, making it one of the poorest nations in the
Cleveland Clinic for the bene t of current and future participants world. The probability of dying under age 5 years is 68/ 1000 live
addressing topics such as ethics in clinical practice and research, cultural births, in part due to the low percentage of women attending antenatal
sensitivity, and exploring the standards of care in international rural out- care and only 10 percent of births being attended by skilled health per-
reach clinics. Speakers include experienced residents, Fellows, invited sonnel.14 The health workforce is nearly nonexistent with 0.3 physi-
faculty from the local institutions, and Case Western Reserve University. cians per 10,000 population and 2.5 nurses and midwives per 10,000
Dr. Krishna warns that these experiences just might change your population. Health problems in Ethiopia include maternal mortality,
life! Involvement in this work can be humbling, meaningful, and ful- malaria, tuberculosis and HIV/ AIDS compounded by malnutrition and
lling. There are unexpected ethical dilemmas along the way, with no lack of access to clean water and sanitation.
right or wrong answers necessarily. We strive not to set standards and
expectations that cannot be sustained by us or the host community PRO BLEM IDENTIFIED
when we leave. Understanding the local health system, making appro-
priate contacts in the community and getting the support of local
Rick Hodes is a physician who has lived and worked in Ethiopia for over
health authorities are vital to success. Staying aware of ethnocentric-
20 years. As an Orthodox Jew, he always aspired to serve others and
ity, of the “mzungu” effect, studying the culture, and understanding
even as a child, his favorite books were about doctors who went to
local factors affecting health and illness are not an option, they are a
remote places to help people. He rst went to Ethiopia in 1984 to do
necessity (mzungu is an African word for a white person). Empower-
famine relief work. His experience of working at a mission in Ethiopia
ing the community is the ultimate goal. Research if undertaken,
run by Mother Theresa changed his life. He returned to Ethiopia on a
should be such that it is acceptable to the community, respectful, and
Fulbright Fellowship and in 1990 was hired by the American Jewish
the results should be fed back to “close the loop” and hopefully drive
Joint Distribution Committee as the medical adviser for the country.
local health care policy decision. Intervention based on the research
His original position was to care for 25,000 potential immigrants to
builds community trust. Above all, we should strive to do no harm.
Israel but he is continually drawn back to Ethiopia to provide care to
patients. When asked once if he would prefer to work in the US rather
than Africa with its poverty and lack of resources, Hodes said, “It would
INTERNATIO NAL be less frustrating—but it would also be less inspiring.”
HUMANITARIAN EFFO RTS:
ETHIO PIA (RICK HO DES, MD) BEING PART O F THE SO LUTIO N
As senior consultant at a Catholic mission, Dr. Hodes helps patients with

EPIDEMIO LO GY heart disease (rheumatic and congenital) (Figure 6-5), spinal disease (TB
and scoliosis) (Figures 6-6 and 6-7), infectious disease (Figure 6-8) and
Chronic food de cits affect about 792 million people in the world, includ- cancer. He has worked with refugees in Rwanda, Zaire, Tanzania, Soma-
ing 20 percent of the population in developing countries. Malnutrition lia, and Albania in addition to Ethiopia. Dr. Hodes is part of a team at the
PART 2
SO CIAL JUSTICE 35
FIGURE 6-5 Dr. Hod e s e xamining a young Ethiop ian g irl with he art FIGURE 6-6 Dr. Hod e s e xamining an Ethiop ian b oy with se ve re
d ise ase se cond ary to rhe umatic fe ve r. (Use d with p e rmission from Mark kyp hoscoliosis se cond ary to TB of the sp ine . (Use d with p e rmission
Tuschman.) from Richard Lord .)
American Jewish Joint Distribution Committee ( JDC), a Jewish humani- JDC has served tens of thousands of Ethiopians, Jews and non-Jews,
tarian assistance organization founded in 1914 that provides needed services through clinics, immunization, nutrition programs, family planning, and
in more than 70 countries. Among his JDC duties has been providing community health (Figure 6-9).
medical care for thousands of Ethiopian Jews preparing to immigrate to Dr. Hodes has worked primarily in Ethiopia for the JDC since 1990.
Israel. In addition to its assistance to the Ethiopian Jewish community, the In addition to providing direct patient care, he has arranged for
FIGURE 6-7 Ethiop ian child re n with a varie ty of sp ine d ise ase s afte r re turning from sp ine surg e ry in Ghana Africa. Me d ical e valuation and fund ing
was arrang e d b y Dr. Rick Hod e s and the Ame rican Je wish Joint Distrib ution Committe e . The y can look forward to imp rove d live s with straig hte r
sp ine s. (Use d with p e rmission from Rick Hod e s, MD.)
PART 2
36 CHAPTER 6
FIGURE 6-8 The same Ethiop ian child b e fore and afte r che mothe rap y
for Hod g kin’s lymp homa. Dr. Hod e s d iag nose d and tre ate d this young
b oy. (Use d with p e rmission from Rick Hod e s, MD.)
FIGURE 6-10 Dr. Hod e s hosting a g roup of US me d ical stud e nts and
d octors in his clinic at the Mothe r Te re sa mission in Ethiop ia. (Use d
with p e rmission from Richard P. Usatine , MD.)
specialized care for hundreds of children in need with neurosurgeons
and orthopedic surgeons in the US and Ghana. He has fostered numer-
ous orphaned children and adopted four children, providing needed
medical care with his own insurance. Some of these children are now 24 percent among women and 20 percent among men. 16 Approxi-
attending schools and colleges around the US. He has also led teams of mately 32 million adults had dif culty with 1 or more functional
doctors, who come to work with him as volunteers (Figure 6-10). In activities, and approximately 16.7 million adults had a limitation in
one interview, Dr. Hodes said, “Getting free medical care in a Catholic
hospital by a Jewish doctor is like the whole world coming together.
It’s the way the world should work.”
CARING FO R THO SE WITH

DISABILITIES (LAURIE WOODARD, MD)
EPIDEMIO LO GY
Approximately 54 million Americans currently live with at least 1

disability and the vast majority (52 million) live in their communities
(Figure 6-11). 15
FIGURE 6-11 Dr. Laurie Wood ard and he r d aug hte r Anika share a
g ood laug h following b re akfast while on vacation in Ne w Me xico.
Althoug h Anika is d e p e nd e nt fo r all he r activitie s of d aily living and is
FIGURE 6-9 Dr. Hod e s with some of his Ethiop ian p atie nts that have nonve rb al b e cause of sp astic q uad rip are tic ce re b ral p alsy, she love s to
sp ine d ise ase . (Use d with p e rmission from Richard Lord .) trave l and has a wond e rful se nse of humor.
PART 2
SO CIAL JUSTICE 37
the ability to work around the house. Two million adults used a curriculum for third-year students underwent major reform, she saw
wheelchair and 7 million used a cane, crutches, or a walker. her opportunity. Within the primary care 12-week experience, a cur-
riculum on special populations was planned and Laurie made sure that
some type of learning disability and 12.8 percent (9.4 million) have it included teaching about persons with disabilities. Her curriculum,
special health care needs. 15 implemented in 2005 with goals ranging from sensitivity training to
understanding both the capabilities and needs of individuals with dis-
abilities, contains the following components:
whites or Asian Americans; 7.3 million individuals (ages 15 to
65 years) with disabilities are of racial or ethnic minorities. -
ties (e.g., cerebral palsy, communication issues, wheelchair users)
health and wellness of persons with disabilities underscoring the where pairs of students complete brief interview and physical
need in this population. 15 examination under video monitoring. The session ends with a
debrie ng circle wrap up with students and patients.
-
ETIO LO GY sent an advocacy agency or organization. Special emphasis is placed on
community services and opportunities including the arts and sports.
Challenges to a person’s health can happen at any age and at any time.
Disabilities are not illnesses, rather they are limitations related to a
student and physical therapy student) receive a preparation sheet
medical condition that have an in uence on essential life functions
and checklist, and learn how disability affects individuals and their
such as walking, seeing, or working. 15 Furthermore, disabilities do
family. Following the visit, students prepare re ection plus
not affect all people in the same way.
research reports that are posted on blackboard; part of the assign-
ment is to read and comment on all the papers.
that their disability was associated with a health condition including
arthritis and rheumatism (17.5%), back or spine problems health topics (e.g., rst aid, in uenza) selected by staff at an adult
(16.5%), heart trouble/ hardening of the arteries (7.8%), lung or daycare facility for individuals with intellectual disabilities or the
respiratory problems (4.7%), deafness or hearing problems high school group noted above, or assist in the recreational activi-
(4.2%), mental or emotional problems (3.7%), blindness or visual ties for individuals with disabilities (e.g., free physicals for riders in
problems (3.4%), and intellectual disability (2%). 16 therapeutic horseback riding program).
-
lation, better survival of catastrophic illnesses and trauma, and a manual wheelchair user with shoulder pain; the standardized
advances in preventing infant and child mortality. patients are individuals who are wheelchair users.
-
PRO BLEM IDENTIFIED dents are randomly assigned a disability (e.g., using a wheelchair or
other assistive device or blindfold) and complete tasks followed by
watching the movie Murderball (an informative and proactive docu-
As a mother of a child with profound disabilities, Dr. Laurie Woodard
mentary about the Paralympics sport, quadriplegic rugby, and its
found that her medical training did little to prepare her for caring for
players). A speech pathologist also provides a hands-on assistive/
her child or nding help (Figure 6-11). She became acutely aware
augment communication device tutorial.
that people with disabilities had great dif culty nding physicians and
those who provided care often seemed afraid of them. She said, “I “The students learn to see the patient rst,”she says, “that caring for
couldn’t imagine someone not wanting to care for her because she these individuals requires recognizing the patient’s expertise about their
had a disability.” Physicians tend to focus on the medical condition and disability and problem solving together. For most students, even the most
not the whole person and their families; when confronted with the jaded, this is simply an eye opening experience as the patients are usually
patient’s health care needs and functional issues, the feeling of acting quite physically impaired but lead full and active lives”(Figure 6-12).
more like a social worker than a physician caused them to fall back Dr. Woodard has expanded this program and is co-teaching with
into medical model framework. In addition, societal support for those faculty from the School of Physical Therapy (PT) so that medical
with disabilities, particularly disabilities acquired as an adult, are frag- and PT students interview and examine patients together. In addi-
mented and the primary care physician needs to become the link. tion, she will begin providing training within the courses Doctoring
1 and Doctoring 2 to rst- and second-year medical students (the
home visit and panel discussion will be moved to the rst year)
BEING PART O F THE SO LUTIO N allowing more complex and challenging issues to be addressed dur-
ing the clerkship. Finally, she is also involved with Alliance for Dis-
Dr. Woodard began to care for increasing numbers of patients with ability in Health Education, a group mainly out of the Northeast
disabilities, training herself through reading, experience, and asking whose mission is to get the American Association of Medical Col-
patients what worked. As she worked with individual students she leges (AAMC) to require the topic of disability in the curriculum.
planned for a time when she could break into the medical student Since the initial publication of this chapter, Dr. Woodard’s daughter
curriculum to provide this training. Eight years ago, when the graduated from high school in June 2011. The family is working on
PART 2
38 CHAPTER 6
(19), or homicide (4) or suicide (1). Natural deaths included alco-

hol related (9 including 3 with seizures likely from alcohol with-
drawal), heart disease (4), and lung disease (3). Accidental deaths
were primarily a result of acute alcohol toxicity (7), re (6), hypo-
thermia (2), and pedestrian–motor vehicle incidents (2). No deaths
were attributed to drugs other than alcohol.
ETIO LO GY
Homeless persons are often extremely poor and socially isolated, the lat-
ter is considered a signi cant contributor to being homeless. Many medi-
cal conditions are caused by or exacerbated by the adverse living condi-
tions and lack of health care experienced by the homeless. These include:
FIGURE 6-12 Dr. Wood ard , d aug hte r Anika, and d og Nikki are p art of
-
a te am of Unive rsity of South Florid a (USF) me d ical stud e nts, faculty, tory disease (e.g., tuberculosis), scabies and pediculosis infesta-
and family who p articip ate d in a “whe e l-a-thon” to raise mone y for tions, and chronic illnesses such as diabetes.
Tamp a’s rst fully acce ssib le p layg round . Te aching me d icals stud e nts
the the rap e utic value of sp orts and re cre ation for p e op le with d isab ili-
tie s is an imp ortant asp e ct of the USF curriculum.
PRO BLEM IDENTIFIED
helping her structure her day and move beyond the interminable wait
Dr. Randal Christensen earned both a medical degree and MPH
list for services to which she is entitled. She is happy and healthy, and
from Tufts University School of Medicine followed by a four-year
the family members consider themselves lucky to have good, afford-
combined Pediatrics and Internal Medicine program in Phoenix, Ari-
able caregivers and companions to assist her.
zona. Medical education became a priority for him and he wanted to
nd a way to combine the provision of medical care to underserved
CARING FO R THE HO MELESS populations while teaching and inspiring students to get involved
with their communities. Throughout his career, Dr. Christensen has
(RANDAL CHARLES CHRISTENSEN, maintained a strong desire to care for children who have no voice.
MD, MPH)
BEING PART O F THE SO LUTIO N
EPIDEMIO LO GY
Dr. Christensen began working for Phoenix Children’s Hospital as the
At least 643,000 persons were homeless on any given night in 2009 Medical Director of the Crews’n Healthmobile, a mobile medical van
and 1 in every 200 Americans (approximately 1.56 million people) that delivers medical care to homeless youth and teens
spent at least 1 night in a shelter during that year. 17 Of those who (Figures 6-13 and 6-14). As a Clinical Assistant Professorship at the
were homeless in one study, 3 percent reported having HIV/ AIDS University of Arizona College of Medicine and the Arizona State Uni-
and 26 percent reported other acute health problems, including versity School of Nursing, he was in an ideal position to expand this
tuberculosis and other sexually transmitted infections. 18 program serving homeless children in Phoenix and the surrounding
Causes of death were investigated in one study of 40 homeless peo- communities. This mobile medical center provides comprehensive
ple for more than a 1-year period (1985 to 1986) conducted by the medical and social services; it is essentially a doctor’s of ce on wheels.
Fulton County Medical Examiner in Georgia. It was thought at that Dr. Christensen and his team reach out to thousands of children and
time that between 4,000 and 7,000 individuals were homeless, so the adolescents living in poverty on the streets of Arizona (Figures 6-15 to
crude death rate for that year was estimated at 5.7 to 10 per 1,000. 19 6-17). Systems and procedures set up by his team are still in place
today and in multiple other mobile medical centers around the country.
Dr. Christensen has also exercised his leadership abilities on behalf
18 (45%), and black females for 3 (8%). The median age for 36 indi-
of many community organizations. As the Medical Director for
viduals whose age was known was 44 years (range = 21 to 70 years).
Camp AZDA, one of the largest camps in the US for children with
diabetes, he has taken a team approach to expanding numbers of
Of the 18 persons who died indoors, 7 were found in vacant build- children and staff at camp while providing a safe and perhaps life
ings and 5 died at shelters. changing experience for these children. Other memberships include
the Executive Board for VisionQuest 20/ 20 (an organization with a
information, circumstances of death, and autopsy and toxicologic mission to insure all children have proper vision screening through
studies (when performed) was classi ed as natural (16), accidental enhanced technology), and the Advisory Board for Health care for the
PART 2
SO CIAL JUSTICE 39
FIGURE 6-13 Dr. Randy Christensen with his team and Healthmobile get-
ting ready to go out on the streets of Phoenix to deliver free health care to
homeless and at-risk children and teens. This mobile medical van, nick-
named “Big Blue,” is out tted with three exam rooms and the latest tech-
nology. (Photography used with permission by Phoenix Children’s Hospital.)
FIGURE 6-16 The Cre ws’n He althmob ile visits multip le site s around
the Pho e nix are a whe re home le ss te e ns g athe r. This te e nag e coup le
was hap p y to p ose for p hotos that are d isp laye d on the site : http ://
www.askme whyihurt.com/b ig -b lue /face s-of-cre ws/.
FIGURE 6-14 “Say ahhh!” Dr. Christe nse n visits with Jacob for a rou-
tine he alth che ck-up insid e the Cre ws’n He althmob ile . In the 12 ye ars
Dr. Christe nse n has b e e n op e rating the van, he has comp le te d more
than 32,000 me d ical e ncounte rs. (Photog rap hy use d with p e rmission b y
Phoenix Childre n’s Hospital. Photog rap hy by Dese rt Ridg e Photog rap hy/
Charle s Siritho.)
FIGURE 6-17 This te e n is showing us he r tattoo. Many te e ns come to

the he althmob ile afte r g e tting a tattoo o r p ie rcing to have the ir skin
che cke d to make sure the y “d on’t g e t an infe ction”. During those
time s Dr. Christe nse n and his te am try ve ry hard to e stab lish a rap p ort
FIGURE 6-15 Dr. Christe nse n e xamine s this cute b ab y at a local home - and e ncourag e follow up . As trust b uild s the n so d oe s the chance for
le ss she lte r. (Photog rap hy use d with p e rmission b y Phoe nix Child re n’s the te e ns’ succe ss to g rad uate and g e t me aning ful work (http ://www.
Hosp ital. Photog rap hy b y De se rt Rid g e Photog rap hy/Charle s Siritho.) askme whyihurt.com/b ig -b lue /face s-of-cre ws/).
PART 2
40 CHAPTER 6
Homeless
http:// www
.nationalhomeless.org.
http:// www.naeh
.org.
www.hud.gov/ homeless/ index.cfm.

www1.va.gov/ homeless/ .
www.askmewhyihurt.com.
REFERENCES
1. United Nations High Commissioner for Refugees (UNHCR).
http:// www.unhcr.org/ pages/ 49c3646c11.html, accessed April
26, 2012.
2. Center for Disease Control (CDC). http:// www.cdc.gov/
globalhealth/ gdder/ ierh/ FAQ.htm# What health issues are most
important early in an emergency?, accessed April 26, 2012.
3. Global Health Overview. http:// www.globalissues.org/ article/
588/ global-health-overview, accessed October 2013.
FIGURE 6-18 Fathe r and d aug hte r re ce iving me d ical care afte r b e ing
e vacuate d from Ne w O rle ans p ost Hurricane Katrina. (Use d with 4. Liebe S, Elliott A, Bien M. Student interest and knowledge
p e rmission from Richard P. Usatine , MD.) concerning global health electives: a USD Sanford School of
Medicine study. S D Med. 2013;66(6):231-233.
5. Thompson MJ, Huntington MK, Hunt DD, et al. Educational
Homeless. His efforts to help underserved populations include
effects of international health electives on U.S. and Canadian
yearly trips to Washington, DC, to advocate for children.
medical students and residents: a literature review. Acad Med.
Dr. Christensen’s contributions extend far beyond the walls of
2003;78(3):342-347.
Phoenix Children’s Hospital. When Hurricane Katrina hit New
Orleans in 2006, Dr. Christensen organized a team to deliver medical 6. Jeffrey J, Dumont RA, Kim GY, Kuo T. Effects of international
care within 10 days of the storm. His team was meet with of cials in health electives on medical student learning and career choice:
Louisiana and provided needed health care during more than 330 results of a systematic literature review. Fam Med. 2011;43(1):
clinical visits. Most of these families were in dire need of primary care 21-28.
and had not seen a doctor since the hurricane started (Figure 6-18). 7. World Health Organization. Peru. http:// www.who.int/
The team also delivered thousands of dollars of medications and sup- countries/ per/ en/ , accessed October 2013.
plies to the devastated area. 8. Martimianakis MA, Hafferty FW. The world as the new local
clinic: a critical analysis of three discourses of global medical
PRO VIDER RESO URCES competency. Soc Sci Med. 2013;87:31-38.
International Humanitarian Efforts 9. Rassiwala J, Vaduganathan M, Kupershtok M, et al. Global Health
www.doctorswithoutborders.org. Educational Engagement-ATale of Two Models. Acad Med.
2013;25.
www 10. Rowson M, Smith A, Hughes R, et al. The evolution of global
.internationalhealthvolunteers.org. health teaching in undergraduate medical curricula. Global
www.rickhodes.org. Health. 2012;13:8:35.
11. Imperato PJ. A third world international health elective for U.S.
Disabled Persons
medical students: the 25-year experience of the State University of
www.usdoj.gov/ crt/ ada/ NewYork, Downstate Medical Center. BMC. 2004;29(5):337-373.
cguide.htm. 12. World Health Organization. Water-Related Diseases. Malnutrition.
www.ssa.gov/ disability http:// www.who.int/ water_sanitation_health/ diseases/
(information on bene ts). malnutrition/ en/ , accessed October 2013.
www.dsusa.org. 13. World Health Organization. Progress on Sanitation and Drinking
www.disabilityinfo.gov. Water: 2013 Update. http:// apps.who.int/ iris/ bitstream/ 10665/
81245/ 1/ 9789241505390_eng.pdf, accessed October 2013.
PART 2
SO CIAL JUSTICE 41
14. World Health Organization African Region. Ethiopia. http:// 18. National Resource Center on Homelessness and Mental Illness.
www.who.int/ countries/ eth/ en/ , accessed November 2013. Who Is Homeless? http:// homeless.samhsa.gov/ Resource/ View.
15. Department of Health and Human Services. The Surgeon General’s aspx?id 32511.
Call to Action to Improve the Health and Wellness of Persons with Dis- 19. Centers for Disease Control and Prevention: Enumerating deaths
abilities., http:// www.ncbi.nlm.nih.gov/ books/ NBK44667/ pdf/ among homeless persons: comparison of medical examiner data
TOC.pdf, accessed April 25, 2007. and shelter-based reports—Fulton County, Georgia, 1991.
16. Prevalence of disabilities and associated health conditions among MMWR Morb Mortal Wkly Rep. 1993;42(37):719, 725-726.
adults—United States, 1999. MMWR Morb Mortal Wkly Rep.
2001;50(07):120-125.
17. Centers for Disease Control and Prevention. National Prevention
Information Network, http:// www.cdcnpin.org/ scripts/
population/ homeless.asp, accessed May 1, 2012.
PART 2
42 CHAPTER 7
7 GLO BAL HEALTH and free health care, including treatment of endemic helminth infec-
tions, trachoma, and skin diseases, while collaborating with and sup-
Ruth E. Be rg g re n, MD porting the local government-sponsored health clinic (Figures 7-1A
Richard P. Usatine , MD and B). In Figure 7-1C, the schoolchildren of Common River are
looking at the new group of American medical students that have just
arrived in Africa. In the coming week, these children will receive oral
albendazole to treat intestinal parasites and have complete physical
CO MMUNITY STO RY exams to detect and treat other common conditions, such as head
lice, tinea capitis, trachoma, and foot infections. Note that many of
Common River is a US-based nongovernmental organization the children are barefoot. In Figure 7-1D, a group of women have
(NGO) implementing a community development program in Aleta just completed their woman’s literacy class for the day. Improving
Wondo, Ethiopia. This NGO is founded on the principle of positive women’s literacy can improve the health of the entire community.
deviance, in which local best practices are identi ed and replicated to
maximize agricultural production (organically grown coffee is pro-
duced in this region), as well as to improve the nutritional status, WHAT IS GLO BAL HEALTH?
health, and education of orphaned and vulnerable children. Since
2009, a group from the University of Texas School of Medicine has For years, the term international health has described health work in
travelled annually to Aleta Wondo to provide school health screening resource-limited settings with an emphasis on tropical diseases,
A B
C D
FIGURE 7-1 A. Many p e op le still live in e xtre me p ove rty with no running wate r and e le ctricity. This is a typ ical hut in Ethiop ia. This one is inhab ite d
b y a g rand mothe r, he r g rand child , and a cow. The p hotog rap h was take n afte r a home visit to p rovid e IM ce ftriaxone to the child afte r he r re le ase
from the local hosp ital whe re she was tre ate d for a ne ck ab sce ss and ce llulitis. The me d ical te am was staying at Common Rive r and orig inate d from
the Unive rsity of Te xas. B. A Unive rsity of Te xas me d ical stud e nt is b and ag ing the hand of a 2-ye ar-old g irl in Ale ta Wond o. The me d ical te am had
just d raine d an ab sce ss o f he r hand . C. The schoolchild re n of Common Rive r in rural Ethiop ia g re e t the ne w g roup of Ame rican me d ical stud e nts
that have just arrive d in Africa. D. Smiling wome n that have just comp le te d the ir woman’s lite racy class for the d ay. Imp roving woman’s lite racy is a
g re at way to raise the he alth status of the community. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 2
GLO BAL HEALTH 43
communicable diseases, and illness caused by poor nutrition and This chapter brie y introduces some of the relevant subject
inadequate access to water, sanitation, and maternal care. 1 More areas with which global health providers should familiarize them-
recently, global health is commonly used to emphasize mutual shar- selves when preparing for international work. Statistics that aid in
ing of experience and knowledge, in a bilateral exchange between understanding the state of a nation’s health relative to other coun-
industrialized nations and resource-limited countries, and the tries are the mortality rate of children younger than age of 5 years
emphasis is expanding to include noncommunicable diseases and old and adult life expectancy. Least-developed countries report
chronic illness. 2 One de nition of global health, proposed by the that as many as 112 of 1,000 children die before age 5 years, com-
Consortium of Universities for Global Health Executive Board, is pared to 8 per 1,000 in developed countries, 3 and adult life expec-
“an area for study, research, and practice that places a priority on tancy ranges from 48 or 49 years at birth (Chad, Swaziland) to 88
improving health and achieving equity in health for all people world- or 89 years (Japan, Monaco). 3 Another important parameter by
wide.”1 This chapter focuses on a few conditions commonly encoun- which to compare the health status of countries is that of maternal
tered in developing nations, emphasizing communicable diseases and mortality, de ned as the number of maternal deaths per 100,000
malnutrition. livebirths. These gures, together with basic epidemiology of dis-
Ethical dilemmas abound when professionals from resource- ease provide important insights into public health priorities for
rich settings leave their familiar environment and apply their populations.
practices in a severely resource-limited setting. Consider, for What statistics do not provide, however, is the level of importance
example, breastfeeding guidelines in the setting of maternal-to- ascribed to a particular health issue by a community. It is necessary to
child HIV prevention. National protocols differ depending on acknowledge and address the needs expressed by communities them-
resource availability. In some settings, telling an HIV-positive selves, in order of their own priorities, so as to achieve sustained
mother not to breastfeed (because breast-milk can transmit HIV) improvements in health outcomes. All health improvements ulti-
may sentence her infant to near-certain death from diarrhea. If a mately rely on long-term behavioral changes, whether dietary, pill
program overturns local teaching about exclusive breastfeeding, it taking, physical activity, or hygiene related. Group behavioral change
must ensure a safe and sustainable alternative form of infant feed- requires buy-in from the population with approbation and in uence
ing. Imposing the standards of industrialized nations in a commu- of local leadership.
nity that cannot afford to continue to provide these standards can A useful method of creating a positive impact is to make use of
undo years of program development. Care must be taken not to ongoing peer-to-peer adult education techniques through the intro-
undermine the trust a community has placed in local health production of community health clubs. This can be effective for empow-
viders, as this can ultimately increase morbidity rather than ering resource-limited communities to develop their priorities, and
relieve suffering. Working with local health providers is essential to advocate for their community health and development needs. 4 It is
so that a short trip can result in extended benefits to the commu- best to learn about and collaborate with the local and governmental
nity (Figure 7-2). community health activities before launching any intervention, be it
clinical, infrastructural, or preventive.
WATER AND SANITATIO N

Many diseases in resource-poor settings are traceable to de cits in
clean water supply and storage, lack of soap for bathing, and lack of
functioning infrastructure to manage human waste (e.g., garbage col-
lection and latrines) (Figure 7-3). Some of the most important ones
include typhoid fever, cholera, and intestinal parasites.
Lack of governmental and public health infrastructure in the devel-
oping world leads to large populations living without clean running
water. World Health Organization (WHO) and UNICEF estimate that
780 million persons are without access to improved water sources
and 2.5 billion (37% of the world’s population) people are without
access to improved sanitation sources. 6
Water and sanitation de ciencies are responsible for most of the
global burden of diarrheal disease. The most common diarrheal dis-
ease of returning travelers is caused by enterotoxigenic Escherichia coli.
All over the world, young and malnourished children die of prevent-
FIGURE 7-2 The p hysician in the front of this p icture is p le ase d to
able diarrhea caused by rotavirus, E. coli, Salmonella, Shigella, and
re ce ive me d ications that are unavailab le to he r hosp ital in rural Campylobacter.
Panama. Be fore ship p ing or b ring ing me d ications ab road , it is e sse ntial Diseases that are particularly deadly as a result of lack of access to
to le arn what p racticing p hysicians ne e d . Bring ing re d und ant or ne arly
e xp ire d me d s or short-te rm sup p lie s of e xp e nsive b rand me d ications
clean water include typhoid fever and cholera. Intestinal parasites,
cause s more harm than g ood . Do nate d me d ications should b e locally while usually not deadly, do lead to chronic problems with malnutri-
re le vant g e ne rics that are not e xp ire d . The WHO list of e sse ntial me d i- tion and anemia, which themselves contribute to cyclical poverty and
cations may b e he lp ful in p lanning (http ://www.who.int/me d icine s/
p ub lications/e sse ntialme d icine s/e n/ind e x.html). (Use d with p e rmission
disease because they lead to impaired learning, reduced productivity,
from Richard P. Usatine , MD.) and vulnerability to other infectious diseases.
PART 2
44 CHAPTER 7
B C
FIGURE 7-3 A. A cove re d p it latrine se rving the ne e d s of an Ethiop ian family. The latrine is locate d on the e d g e of the g ard e n ne ar the ir home and
p re se nts a fall hazard for young child re n. (Use d with p e rmission fro m Richard P. Usatine , MD.) B. An Ethiop ian p it latrine , which offe rs no mitig ation
for ie s and is situate d in p roximity to the wate r tab le b e low. He avy rains will le ad to contamination of the wate r sup p ly with fe cal p athog e ns. (Use d
with p e rmission from Richard P. Usatine , MD.) C. An e le vate d , ve ntilate d imp rove d p it latrine can p rote ct the wate r tab le and re d uce ie s. Air circu-
late s d own the sq uat hole , into the p it and up throug h the p ip e . To e nsure unhind e re d ow of air, the top of the ve nt p ip e must b e 0.5 me te rs
ab ove the top of the she lte r. The latrine inte rior is ke p t d ark so the main lig ht source in the p it come s from the ve nt p ip e . Flie s are attracte d to the
lig ht, b ut the p ip e has a y-p roof scre e n at the top , so the y cannot e scap e and e ve ntually d ie .5 Many countrie s consid e r the ve ntilate d imp rove d p it
latrine to b e the minimum stand ard fo r imp rove d sanitation. (Use d with p e rmission from Jason Rose nfe ld , MPH.)
CLINICAL PRESENTATIO N
TYPHO ID FEVER
Patients develop an acute systemic illness with prolonged fever,
malaise, and abdominal pain after ingesting contaminated food or
Typhoid fever, also known as enteric fever, is an acute systemic
water. This truly nonspeci c syndrome may include headache, mild
illness caused by the invasive bacterial pathogen, Salmonella typhi.
cough, and constipation, with nausea and vomiting. Diarrhea may be
Salmonella is ingested in contaminated water or food, invades the
present but it is not the rule. After a 10- to 20-day incubation period,
mucosal surface of the small intestine, and causes bacteremia, with
there is a stepwise progression of fever over a period of 3 weeks, and
seeding of the liver, spleen, and lymph nodes.
the patient may display a transient rash described as rose spots (2- to
4-mm pink macules on the torso, which fade on pressure). Tempera-
EPIDEMIO LO GY ture pulse dissociation with relative bradycardia despite high fever
Typhoid fever is mainly found in countries with poor sanitary condi- may be noted in fewer than 25 percent of patients. In the second week,
tions. Because most such countries do not routinely con rm the diag- the patient becomes more toxic and may develop hepatosplenomegaly.
nosis with blood cultures, the disease is highly underreported. Out- Untreated, typhoid can progress to include delirium, neurologic
breaks of typhoid are often seen in the rainy season, and in areas complications and intestinal perforation caused by a proliferation of
where human fecal material washes into sources of drinking water. Salmonella in the Peyer patches (lymphoid tissue) of the intestinal
Shallow water tables and improperly placed latrines are environmen- mucosa. Although the mortality rate for untreated typhoid is 20 per-
tal risk factors for typhoid. Globally there are 16 to 33 million cases cent, early antibiotic therapy can decrease mortality. Approximately
annually, with up to a half a million deaths every year. 7 1 percent to 4 percent of those who recover from acute typhoid fever
PART 2
GLO BAL HEALTH 45
become carriers of the disease who continue to shed Salmonella in destruction of public health infrastructure (collapse of water supplies,
their stool despite not being ill. 7 sanitation, and garbage collection systems). The 2010 outbreak in
postearthquake Haiti has been traced to UN peace-keeping soldiers,
DIAGNO SIS whose waste contaminated a major Haitian river used for bathing,
Culture of blood, stool, rectal swab, or bone marrow. 8 irrigation, and drinking water. In just 10 months, 300,000 cases were
reported, of whom 4500 died, and the outbreak has continued to wax
DIFFERENTIAL DIAGNO SIS9 and wane with the rainy seasons for years. 11 A large infective dose is
necessary for infection, and although only approximately 10 percent
of those infected fall ill, the infection can be fatal for young children,
therapy for both malaria and typhoid may be warranted if diagnos-
elderly, and malnourished individuals.
tic testing is unavailable).
E. coli.
PATHO PHYSIO LO GY
Campylobacter.
V. cholerae is a motile, gram-negative rod. After ingestion via contam-
Salmonella para typhi, other less virulent inated water or food, it must survive the acid environment of the
Salmonellae). stomach before colonizing the mucosal surface of the small intestine.
Aedes The organism is noninvasive and not associated with bloody diarrhea.
aegypti). Rather, it makes a potent toxin causing massive secretion of
electrolyte-rich uid into the gut lumen. Human to human contact
spread virtually never occurs. Transmission through contaminated
food or water is the rule. 12
Clinical presentation ranges from mild watery diarrhea to acute,
fulminant watery diarrhea which looks like rice water. After an incu-
bation period of 18 to 40 hours, patients may lose up to 30 L of uid
MANAGEMENT daily, with resulting metabolic acidosis and electrolyte disturbances.
Prompt diagnosis and initiation of antibiotic therapy is essential and Severe dehydration can lead to death in a matter of hours. Vomiting,
life-saving. Oral rehydration therapy should be initiated rst, fol- when present, starts after the onset of diarrhea. Profoundly dehy-
lowed by IV uids if vomiting cannot be controlled and for patients drated patients present with decreased skin turgor, sunken eyes, and
with altered mental status or hypovolemic shock. Antibiotic resis- lethargy. Children, but not adults, may have mild fever. Cramping
tance patterns differ with geographic location. caused by loss of calcium and potassium is common. 12
For Africa and resource-limited settings in the Americas, the rst
choice is chloramphenicol or cipro oxacin. Historically, trimethoprim- DIFFERENTIAL DIAGNO SIS AND
sulfamethoxazole has been used, 8 but there has been increasing drug LABO RATO RY TESTS
resistance to sulfa in these areas. In Asia, where multidrug resistant S. Early presentation may resemble enterotoxigenic E. coli
typhi strains are well described, cipro oxacin, ceftriaxone, or azithro- the syndrome is quickly distinguishable because of the extreme vol-
mycin may be used for 7 to 14 days. 8–10 Azithromycin should only be ume of “rice water” secretory diarrhea that is the result of cholera
used in mild disease. Some guidelines advocate the use of dexametha- toxin. V. cholerae may be con rmed by stool culture, polymerase
sone, 3 mg/ kg IV followed by 1 mg/ kg every 6 hours for 2 days in the chain reaction (PCR) for toxin genes, or dark- eld microscopy with
setting of shock or altered mental status. 8 See vaccine information at speci c antisera, which immobilizes the V. cholerae. 13 The Centers for
the end of this chapter. Disease Control and Prevention (CDC) recommends con rmation of
cholera by stool specimen culture or rectal swab. For transport, Cary
Blair media is used, and for identi cation, thiosulfate-citrate-bile-salts
CHO LERA (TCBS) agar is recommended. 14
Cholera is an acute, diarrheal disease caused by Vibrio cholerae. It is MANAGEMENT

usually transmitted by contaminated water or food, and is associated Water, sanitation, and hygiene education is essential, as is education
with pandemics in countries that lack public health infrastructure and about recognizing the symptoms and immediately seeking medical
resources for sanitation. Although the infection is often mild or attention while initiating oral rehydration. Optimally, rehydration
asymptomatic, in 5 to 10 percent of patients it can be severe and should commence with reconstitution of WHO-distributed oral rehy-
life-threatening. 14 dration salts (ORS), which is available in all but the most remote
areas of the world. Hydration is the mainstay of therapy, and replace-
EPIDEMIO LO GY ment of uids should be calibrated to match losses. ORS should be
V. cholerae reservoirs occur in brackish and salt water as well as estu- prepared with previously boiled water and consumed within 24 hours
aries. Although the organism occurs in association with copepods and of reconstitution. IV or intraosseous hydration with Ringer lactate
zooplankton, its largest reservoir is in humans. Cholera pandemics solution should be initiated if the patient is vomiting or in danger of
have been reported in south Asia, Africa, and Latin America. Charac- hypovolemic shock. The volume needed to rehydrate a cholera
teristically, cholera outbreaks occur in countries that have suffered
PART 2
46 CHAPTER 7
FIGURE 7-4 In this Ethiop ian community without running wate r, wate r
is colle cte d in Je rry cans. Thousand s o f wome n carry the se he avy, lle d
cans for mile s afte r lling the m up from this sing le p ip e . The local town FIGURE 7-5 Ascaris e g g found in the stool of a child with inte stinal
has p rovid e d one sing le p ip e as the wate r source for the community. p arasite s. In most d e ve lop ing countrie s Ascaris is tre ate d e mp irically
Althoug h the re is mud d y wate r b e low, the wate r coming from the p ip e with alb e nd azole ; stool stud ie s are not always availab le or may not b e
ap p e ars cle ar, althoug h it is like ly to harb or b acte ria and p arasite s. cost e ffe ctive . (Use d with p e rmission from Richard P. Usatine , MD.)
(Use d with p e rmission from Richard P. Usatine , MD.)
measurement of the watery stool in a bucket placed under the cholera DIAGNO SIS
cot is recommended. Stool for ova and parasite studies (Figure 7-5). Note that these will
not reliably detect Strongyloides
include doxycycline, azithromycin, cipro oxacin, and furazolidone. 15 available for the latter. Eosinophilia is an important diagnostic clue
PREVENTIO N O F DISEASES SECO NDARY warrants a careful diagnostic evaluation for parasitic infection.
TO CO NTAMINATED WATER
Drinking puri ed or treated water, good handwashing practices, and TREATMENT
avoidance of contaminated food are essential. Travellers should be O ld e r Child re n and Ad ults
reminded not to brush their teeth with tap water and to avoid having
Albendazole 400 mg orally as single dose will eradicate hookworm,
potentially contaminated ice added to their beverages. Carbonated
and Ascaris, but not Trichuris in most people. 17 Eradication of Trichuris
beverages are safe as the carbonation process is bactericidal. Commu-
trichiura requires 3 daily doses of albendazole or adding ivermectin to
nity education about handwashing and treatment of water is essential.
mebendazole. 18
In communities lacking running water (Figure 7-4), home storage of
drinking water should be in containers with protective lids. Local Child re n 12 months to 2 ye ars
guidelines regarding addition of chlorine to home stored water con- Albendazole 200 mg orally as a single dose is recommended by the
tainers should be followed. WHO. 19 S. stercoralis requires 7 days of albendazole at 400 mg twice
daily. For schistosomiasis, praziquantel is effective against all species
of schistosomes. Give 2 doses of 20 mg/ kg PO 4 to 6 hours apart (3
INTESTINAL PARASITES doses 4 hours apart for Schistosoma japonicum). 20
EPIDEMIO LO GY AND GEO GRAPHIC DISTRIBUTIO N PREVENTIO N

1/ 3 of the world’s population is infected with intestinal parasites, and Preventative measures include proper management of human waste,
although many parasitic infections are asymptomatic, some have serious handwashing after defecation and before cooking, and wearing shoes
health consequences. Especially affected are pregnant women and chil- (prevents hookworm and Strongyloides). WHO guidelines recommend
dren, for whom hookworm-associated anemia results in maternal mor- mass treatment of school children in endemic areas with single-dose
tality, low-birth-weight babies, growth stunting, and impaired learning. albendazole therapy once every 6 months.
The CDC recommends predeparture albendazole treatment as a single
600-mg dose for all refugees from sub-Saharan Africa and South Asia.
MALNUTRITIO N
While this treatment will eradicate most of the nematodes, it is insuf-
cient for Strongyloides stercoralis and schistosomiasis. 16 Types of malnutrition include:
Abdominal pain, cramps, bloating, anorexia, anemia, fatigue, growth
stunting of children, and hepatomegaly (schistosomiasis).
PART 2
GLO BAL HEALTH 47
FIGURE 7-6 This 12 month-old Bolivian child with marasmus p re -

se nte d to me d ical atte ntion with p ne umonia. She has se ve re g rowth
stunting , atrop hie d limb s, and looks mise rab le . He r p re se ntation hig h-
lig hts the association b e twe e n malnutrition and infe ction. (Use d with
p e rmission from Carolina Clark.)
A global shift is underway, from diseases of undernutrition to

overnutrition in tandem with industrialization and advances in
transportation and technology. In spite of this global shift, about a
FIGURE 7-7 This 2-ye ar-old child p re se nte d with classic sig ns and
quarter of the world’s preschool children demonstrate growth symp to ms of kwashiorkor, a se ve re form of p rote in-e ne rg y malnutrition.
stunting caused by nutritional de ciencies. In resource-poor coun- The word kwashiorkor, from a Ghanaian lang uag e , re fe rs to the sick-
tries, adult obesity and childhood undernutrition may coexist ne ss a child d e ve lop s whe n it is we ane d from b re astfe e d ing . In coun-
trie s with limite d p rote in source s, ne wly we ane d child re n are e sp e cially
within the same families. The causes of this seeming paradox include vulne rab le to this d ise ase . The y p re se nt with d e p ig me ntation, re d d is-
many factors associated with poverty: the vulnerability of preschool coloration of the hair, d iste nd e d ab d ome ns, and p e rip he ral e d e ma.
children to infection when sanitation is inadequate, lack of nutrition (Use d with p e rmission from Ruth Be rg g re n, MD.)
education, decreased physical activity with increasing availability of
technology and transportation, and mass marketing of inexpensive,
calorie-rich foods. this should be followed by a period of rapid catchup growth. If a child
Two classic presentations of malnutrition in children are impor- becomes reinfected before catchup growth is complete, the child will
tant to recognize because they signal a patient who is immunocom- fall further behind on the growth curve.
promised and vulnerable not only to infection but also to prevent- Depending on the relative protein content of the diet, patients
able developmental delay. The accompanying photographs show an develop marasmus (calorie deprivation), characterized by emaciation
emaciated child with marasmus (severe, nonedematous malnutrition and listlessness (Figure 7-6), or kwashiorkor, “the disease of weaning”—
Figure 7-6), and a puffy child with -
coloration of the hair (Figure 7-8), which is also brittle, puffy eyes,
Figure 7-7). Marasmic kwashiorkor is another descriptor, illustrat- bloated bellies, and pitting edema of the extremities (Figure 7-7).
ing the high level of overlap in the etiology and presentation of these These children feel miserable and are lethargic and uninterested in food.
extreme forms of malnutrition. 21 Whenever possible, one should The differential diagnosis of kwashiorkor includes nephrotic syndrome,
avoid hospitalizing these children for nutritional rehabilitation as renal failure, or right-side congestive heart failure.
hospitalization will expose them to many infectious pathogens that
could be lethal during their vulnerable period of “nutritional PATHO PHYSIO LO GY
AIDS.”22 Childhood malnutrition, and especially kwashiorkor, may begin when
a breastfeeding mother weans her child from the breast. Deprived of
DIAGNO SIS protective maternal antibodies and protein source, weaning infants
Growth chart monitoring is important for earliest detection of weight begin sampling their contaminated environments and ingesting patho-
loss, growth stunting, or failure to gain height and weight over time. gens. Production of cytokines such as tumor necrosis factor (TNF)-α
In most resource-poor countries, growth monitoring is implemented during infectious episodes suppresses appetite and impedes nutri-
by trained community health workers, who refer mothers for nutritional recovery. 22
tion and education programs upon detecting faltering growth in chil- Micronutrient de ciencies coexist, 21 and de ciencies of vitamin A
dren younger than the age of 5 years. Children often fail to gain and zinc, in particular, predispose children to increased morbidity
from subsequent infections. When parents are unable to replace
PART 2
48 CHAPTER 7
vegetables are easier for mothers to obtain than meat, cow’s milk, or
expensive imported food supplements.
MICRO NUTRIENT DEFICIENCIES
VITAMIN A DEFICIENCY
In contrast to marasmus and kwashiorkor, growth stunting is a more
subtle syndrome affecting 200 million children who are younger than
the age of 5 years. A variety of micronutrient de ciencies are believed
to contribute to stunting syndrome and to accompany developmental
delays, reduced cognitive function, impaired immunity, and future
risk of obesity and hypertension. 24 There are 4 micronutrient de -
ciencies of global importance, each with associated clinical syndromes
that should be recognized. All can be associated with growth stunting
in children, who may present with abnormally short stature but rela-
tively normal weight for height.
Vitamin A is a critical regulator of immune function, which is required
for maintaining the integrity of mucosal surfaces. Vitamin A supplementa-
tion in countries with malnutrition reduces blindness (from xerophthal-
mia) as well as the morbidity of infectious diseases (especially measles,
diarrhea, and respiratory infections). Figure 7-9 shows a photograph of
blindness caused by vitamin A de ciency. In 2009, theWHO estimated
that clinical vitamin A de ciency (night blindness) and biochemical vita-
FIGURE 7-8 Child with kwashiorkor, p rote in-calorie malnutrition and min A de ciency (serum retinol concentration <0.70 µmol/ L) affected
re d hair. The re d hair is a re sult of the kwashiorkor. (Use d with p e rmis- 5.2 and 190 million preschool-age children, respectively.26 About
sion from Richard P. Usatine , MD.) 250,000 children develop blindness caused by vitamin A de ciency every
year, and half of these die within 12 months of losing sight.27
protein requirements of weaning infants, children eat whatever locally Clinical p re se ntation
available calorie sources (grains, cereals, bread, fruit) they can nd. The earliest presentation of vitamin A de ciency is poor night vision,
The poor in many developing countries lack protein sources and tod- which may progress to night blindness, xerophthalmia, ulceration,
dlers are frequently not prioritized when meat, milk, or eggs become and scarring of the cornea, with ultimate blindness. Vitamin A de -
available. ciency is also associated with anemia, and is particularly dangerous in
As a result of severe protein de ciency, hypoalbuminemia and patients with measles, for whom mortality rates are high.
decreased intravascular oncotic pressure lead to edema, and the clas-
sic puffy appearance of the child with kwashiorkor. For years, it was
believed that children with kwashiorkor are disproportionately
deprived of protein, whereas children with marasmus are deprived of
there is a great deal of overlap between these two presentations of

severe malnutrition. 21
MANAGEMENT
The endless cycle of infection leading to poor appetite and weight loss
leading to malnutrition and further risk of infection22 can be dif cult
to break unless mothers of malnourished children are taught to
introduce calorie-dense weaning food supplements and snacks. Many
countries have locally produced ready-to-use therapeutic foods
(RUTF), 21 offering products like Plumpy’nut, or Haiti’s Nourimanba,
made from peanut butter, milk powder, vegetable oil, sugar, and a
vitamin mix. 23
These therapeutic foods are a useful adjunct to breaking the cycle
of infection, anorexia, weight loss and malnutrition, but they are not a
substitute for educating mothers about how to rehabilitate their mal-
FIGURE 7-9 Child with se ve re xe rop hthalmia of the le ft e ye se cond ary
nourished child using locally available and affordable foods. Nonmeat to vitamin A d e cie ncy.25 (Use d with p e rmission from SIGHT AND LIFE
protein substitutes, such as red beans, and locally available green leafy www.sig htand life .org .)
PART 2
GLO BAL HEALTH 49
Manag e me nt contributes signi cantly to child mortality from pneumonia, diarrhea,

A metaanalysis of 43 trials involving 216,000 children younger than the and malaria. A rare but characteristic presentation of profound zinc
age of 5 years who were given vitamin A supplements revealed striking de ciency is acrodermatitis enteropathica (Figure 7-10).
reductions in mortality and morbidity. Seventeen of these trials
Diag nosis
reported a 24 percent reduction in mortality, and 7 trials reported a
28 percent reduction in mortality associated with diarrhea. Vitamin A Because there is no good biomarker for zinc de ciency, diagnosis
reduced diarrhea and measles incidence. Vitamin A signi cantly reduces must rest on clinical suspicion and documentation of therapeutic
morbidity, mortality, and eye disease. Vitamin A supplements are rec- response to supplementation.
ommended to all children who are at risk in low- and middle-income
Manag e me nt
countries. 28 Most countries implement WHO guidelines for vitamin A
supplementation synchronized with childhood vaccine schedules. WHO guidelines for diarrhea recommend use of low concentration
ORS together with routine zinc supplementation for 10 to 14 days.
ZINC DEFICIENCY younger than age 6 months should get 10 mg daily. 30 Zinc supple-
Zinc plays a central role in cellular growth, differentiation, and metabo- mentation decreases the duration and volume of diarrheal stools by
lism. It is necessary for physical growth, GI, and immune function. Many 25 percent and 30 percent, respectively. More importantly, 14 days
zinc studies show improved growth of children and decreased infections of zinc supplementation for a diarrheal episode reduces the incidence
when supplements are given to vulnerable populations. Studies suggest of diarrhea and pneumonia in the subsequent 2 to 3 months, reduces
that the global prevalence of zinc de ciency approaches 31 percent, hospital admissions for diarrhea, and brings approximately a 50 percent
especially in Africa, the eastern Mediterranean, and South Asia. 29 reduction in noninjury deaths in the year following the treatment. 31
Unfortunately, zinc supplementation bene ts are still not widely
Clinical p re se ntation known by health care workers in developing countries. 32
The most common presentation of zinc de ciency is nonspeci c and
may include growth stunting, delayed sexual maturation, dermatitis, IRO N
and defective immunity. Zinc de ciency is associated with decreased Iron de ciency is the most common micronutrient de ciency in the
macrophage chemotaxis, decreased neutrophil activity, and decreased world, and 2 billion people (nearly 1/ 3 of the global population)
T-cell responses. 22 It is widely acknowledged that zinc de ciency are anemic. In resource-limited countries, iron-de ciency anemia is
A B
FIGURE 7-10 Acrod e rmatitis e nte rop athica cause d b y a zinc d e cie ncy. Zinc sup p le me ntation is a stand ard
re comme nd ation from WHO in tre atme nt of child hood d iarrhe a. Eve n child re n who d o not have skin nd ing s
of zinc d e cie ncy b e ne t with re d uce d d uration of d iarrhe a and re d uce d mortality from all infe ctious cause s in
the e nsuing months afte r re ce iving sup p le me ntation. Note the typ ical le sions around the (A) mouth and
(B) b uttocks. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 2
50 CHAPTER 7
either caused or aggravated by malaria, intestinal parasites such as hook- mutism, subclinical hyper- or hypothyroidism, impaired mental func-
worm, and other chronic infections such as HIV, tuberculosis, or schis- tion, and retarded physical development. 35
tosomiasis. Iron de ciency causes enormous morbidity and contributes
to 20 percent of global maternal mortality. Because the consequences Inte rve ntions
include impaired cognition and physical development, increased risk of
illness in children and reduced work productivity, iron de ciency is a adults, 150 µg/ day is suf cient for thyroid function and an adult mul-
real barrier to economic development in resource-poor countries. 33 As tivitamin typically contains 150 µg of iodine per tablet, but this is
with zinc and vitamin A, iron de ciency can be detrimental to host impractical. Population-based interventions should include iodization
immunity, causing decreased neutrophil chemotaxis.22 of salt, and in some developing countries, eradication of iodine de -
ciency has been accomplished by adding iodine drops to well water.
Inte rve ntions
The WHO has developed a three-pronged strategy for addressing
global iron de ciency: increasing iron uptake through dietary diversi - VECTO R BO RNE DISEASES
cation and supplementation, improvement of nutritional status, and
controlling infections, especially worms. In countries with signi cant MALARIA
iron-de ciency anemia, malaria, and helminth infections, these inter- Malaria is a protozoan infection spread by the Anopheles mosquito vec-
ventions can restore individual health as well as raise national produc- tor in endemic areas. Of the four species of malaria (Plasmodium falci-
tivity levels, thereby interrupting the cycle of poverty and disease. 33 parum, Plasmodium ovale, Plasmodium malariae, and Plasmodium vivax),
P. falciparum is the most important to address, because if unrecog-
IO DINE
nized and untreated, it can be rapidly fatal. Only P. falciparum exhibits
high levels of parasitemia in blood, and it is the only type of malaria
populations and is the leading preventable cause of brain damage. that causes sequestration of parasitized erythrocytes in microvascula-
Although iodine de ciency is easily solved through food forti cation ture. This unique feature of P. falciparum is responsible for the severe
costing 2 cents per person annually, prevalences of 60 percent to 90 end-organ damage, including renal failure, acute respiratory distress
percent iodine de ciency among school-age children are observed in syndrome, and coma that is seen with untreated disease. 36
multiple African, Asian, and eastern Mediterranean countries. There
is tremendous variance of iodine de ciency within individual countries Ep id e miolog y and g e og rap hic d istrib ution
and de ciency is not linked to poor or disadvantaged districts. 34 Iodine There are more than 200 million cases of malaria in the world every
de ciency occurs where the soil has low iodine content because of past year. According to the WHO, up to 1 million people worldwide die
glaciation or repeated leaching effects of precipitation. Food crops annually from malaria, with 89 percent of these deaths occurring in
grown in iodine-de cient soil provide inadequate dietary iodine. 35 Africa. Most of the deaths caused by malaria occur in children younger
than age 5 years. P. falciparum, P. vivax, P. malariae, and P. ovale are glob-
Clinical p re se ntation
ally distributed in the tropics. P. vivax is more common in Asia, South
Because iodine is required for thyroid hormone synthesis, iodine de - America, Oceania, and India. P. ovale is found mainly in West Africa,
ciency results in hypothyroidism and goiter (Figure 7-11). Congeni- and P. malariae is much less common than P. vivax or P. falciparum.
tal iodine de ciency results in a form of profound cognitive impair- The risk for malaria varies greatly within a given country, and
ment known as cretinism. Other consequences include stillbirths, deaf depends on altitude (higher altitudes have lower risk), season (great-
est risk in rainy season), and urbanization (rural areas have greater
risk than urban areas). Thus, travelers should be aware of these differ-
ences and plan for prophylaxis accordingly.
The CDC publication, Health Information for International Travel, is
available online at http:// www.cdc.gov/ travel/ and should be con-
sulted for updates about regional patterns of malaria risk, as well as
drug resistance and guidelines, which are subject to frequent
changes. 37
After a 1- to 3-week incubation period following the bite of an
infected female mosquito, patients develop a nonspeci c syndrome of
high fever, headache, myalgia, and shaking chills. This syndrome is
frequently accompanied by nausea, vomiting, and back pain, and
occasional diarrhea. Splenomegaly and anemia (related to hemolysis)
are common in all four types of malaria.
As untreated P. falciparum progresses, there is a risk of cerebral
FIGURE 7-11 A g oite r cause d b y iod ine d e cie ncy in this te e n from a malaria, which is caused by parasitized erythrocytes sequestered in
co untry in Africa whe re io d ine is no t routine ly sup p le me nte d in the
d ie t and g oite r is e nd e mic. (Use d with p e rmissio n fro m Richard P. the capillaries of the brain, with secondary metabolic consequences.
Usatine , MD.) Cerebral malaria is characterized by severe headache and altered
PART 2
GLO BAL HEALTH 51
A B
FIGURE 7-12 A. Plasmod ium falcip arum with a b anana-shap e d g ame tocyte . O f all the sp e cie s of malaria, P. falcip arum is the most like ly to cause
se ve re morb id ity and mortality. B. Plasmod ium falcip arum with chromatin in ring s. (Use d with p e rmission from Richard P. Usatine , MD.)
consciousness. These patients may also develop acute respiratory dis- suspected, especially from febrile travelers returning from malaria
tress syndrome (ARDS), hypoglycemia, acidosis, and shock in the set- endemic areas. Thin smears allow relative quanti cation and specia-
ting of hyperparasitemia. Untreated patients with cerebral malaria ulti-
mately progress to coma, respiratory failure, and death. 38 to rule in malaria, especially when parasitemia is low. Because a sin-
gle negative smear does not rule out malaria, the test must be
Diffe re ntial d iag nosis repeated on at least three occasions at 12- to 24-hour intervals. 39
The initial presentation of malaria is so nonspeci c that it mimics Patients with high levels of parasitemia (>5%) have a worse prognosis
in uenza (without the respiratory symptoms), enteric fever (see sec- and should be considered for inpatient care.
tion on typhoid), dengue fever, rickettsial infections, brucellosis, and Other diagnostic modalities include the uorochrome acridine
leishmaniasis. If hemolysis has been extensive, the patient may pres- orange stain for uorescence microscopy and PCR (not yet widely
ent with jaundice, and viral hepatitis or leptospirosis may also be on available but helpful for very low levels of parasitemia). Rapid antigen
the differential diagnosis. 36 assays using ngerstick blood samples on cards impregnated with spe-
ci c antibodies are alternative methods for laboratory diagnosis of
Lab oratory d iag nosis malaria. In the US, the US Food and Drug Administration has
Malaria is usually diagnosed by light microscopy of peripheral blood approved the BinaxNOW Malaria test, which, although costly, is con-
smears prepared with a Giemsa, Field, or modi ed Wright stain venient for rapid eld use. Unfortunately, this and other immuno-
(Figures 7-12 and 7-13). A thick-and-thin smear should be obtained chromatographic strip assays are not able to determine parasite load. 37
whenever possible in every febrile patient in whom malaria is
Tre atme nt
Many cases of malaria can be treated effectively with oral medication
and parenteral therapy is reserved for severe disease or for patients
who are vomiting. Before prescribing therapy, determine which spe-
cies is most likely involved based on microscopy or rapid diagnostic
After the patient has been given the rst dose of medication, the
patient should be observed for an hour. Vomiting can be managed
with metoclopramide, 10 mg orally, and if the vomiting occurs within
30 minutes, the full initial dose can be repeated. The WHO recom-
mends artemisinin-based combination treatments as rst-line for
uncomplicated P. falciparum: artemether-lumefantrine 1 dose at hours
1, 8, 24, 36, 48, and 60 based on body weight: 5 to 14 kg: 1 tablet per
>34 kg: 4 tablets per dose.

Other artemisinin combinations can be used as follows: artesunate
plus amodiaquine, artesunate plus me oquine, and artesunate plus
sulfadoxine-pyrimethamine. The combination of choice depends on
FIGURE 7-13 Blood sme ar for malaria d iag nosis showing Plasmo d ium
vivax. Rap id e ld te sts are now availab le b ut still more e xp e nsive than the level of resistance of the partner medication in a given region.
microscop y. (Use d with p e rmission from Richard P. Usatine , MD.) Artemisinin and derivatives should not be given as monotherapy.
PART 2
52 CHAPTER 7
For US-returning travelers, the choice of malaria chemotherapy is Pre ve ntion for trave le rs
based on the infecting species, possible drug resistance, and severity Choice of chemoprophylaxis depends on drug resistance patterns for
of disease. Options for therapy include atovaquone-proguanil, quinine P. falciparum in the country being visited. Generally, prophylaxis
in combination with tetracycline, artemether-lumefantrine, me o- should start 1 week before arrival and should continue through
quine, or artesunate. 4 weeks after leaving the endemic area. In the case of atovaquone-
proguanil, prophylaxis may start the day before arrival and end 7 days
Tre atme nt of se ve re P. falcip arum
after departure. Drugs commonly used in prophylaxis include
All cases of severe malaria should be managed as medical emergen- atovaquone-proguanil (Malarone, which is expensive in the US),
cies. Give IV or IM artesunate, artemether, or quinine dihydrochlo- me oquine (may cause central nervous system side effects), and dox-
ride (not available in the US). ycycline (causes photosensitivity). Chloroquine can be used only in a
In the US, give quinidine gluconate, 10 mg base/ kg (up to 600 -
mg) in 0.9 percent saline by rate-controlled IV infusion over bean, Central America, and parts of the Middle East.
1 to 2 hours, followed by a maintenance dose of 0.02 mg base/ kg per
minute with electrocardiogram (ECG) monitoring until patient can LEISHMANIASIS
Leishmaniasis is a vector-borne disease transmitted by the sand y. It
bolus because of the potential for fatal hypotension. For patients with
can be divided into two major forms, a cutaneous form, which is the
severe malaria in the US who do not tolerate or cannot easily access
most common, and the visceral form. There is also a more rare
quinidine, intravenous artesunate has become available through a
mucocutaneous form that can cause signi cant facial dis gurement
CDC investigational new drug protocol. Clinicians may contact the
around the nose and mouth.
physician on call through the CDC malaria hotline
Synonyms
777-488-7100 at all other times) for additional information and
release of the drug.
Patients with cerebral malaria should undergo lumbar puncture to Ep id e miolog y
rule out bacterial meningitis (Figure 7-14) and their blood glucose
should be checked every 4 hours because of the signi cant risk of hypo- and South America. Old World leishmaniasis is found in India,
glycemia in severe malaria. Careful hemodynamic monitoring and man- Africa, the Middle East, southern Europe, and parts of Asia.
agement of seizures (with intravenous benzodiazepines) are essential.
-
Pre ve ntion ing from endemic areas including military personnel who served in
Iraq or Afghanistan.
Prevention measures are a public health priority and should include
mosquito control, elimination of standing water in households and
gardens, insect repellant containing at least 10 percent to 50 percent reported in Texas and Oklahoma. 41
protection), and permethrin-impregnated bed nets. Since 2000, pre- Iran, Saudi Arabia, Syria, Brazil, Colombia, Peru, and Bolivia.41
vention and control measures have reduced malaria mortality by
more than 25 percent globally and by 33 percent in Africa. 40 India, Bangladesh, Nepal, Sudan, Ethiopia, and Brazil. 41
Etiolog y and p athop hysiolog y
genus Leishmania.
Leishmania replicate within

macrophages.
but human-to-human transmission is rare.

Risk factors
countries.
FIGURE 7-14 Me ning itis in a child with a ve ry rig id ne ck. Ce re b ral dusk to dawn.
malaria should b e in the d iffe re ntial d iag nosis for this child . Most b ac- -
te rial me ning itis in child re n can now b e p re ve nte d b y vaccine s fre -
q ue ntly still not availab le in d e ve lop ing countrie s. (Use d with p e rmis- stick injuries, and congenital transmission also are all reported risk
sion from Richard P. Usatine , MD.) factors for visceral leishmaniasis. 42
PART 2
GLO BAL HEALTH 53
A B
FIGURE 7-15 Examp le s of le ishmaniasis on the face . Le sions e me rg e in the site of the sand y b ite ; the nose is commonly affe cte d as se e n in the
child re n in g ure s A and B from Africa. (Use d with p e rmission from Richard P. Usatine , MD.)
Diag nosis
Clinical fe ature s the toes (Figure 7-16).
Lab oratory te sting

to a single ulcer or nodule (Figure 7-15) or may be disseminated
widely (Figure 7-16). and a biopsy or a scraping of the ulcer. A Giemsa stain will demon-
strate parasites in the skin smears taken from the edge of an active
the liver, spleen, and bone marrow and causes systemic illness. The ulcer. 43 In some centers, PCR is available and is considered the
patient may present with fever, anemia, night sweats, weight loss, and method of choice. 44
an enlarged abdomen because of hepatosplenomegaly. 43
marrow biopsy. Several serologic agglutination tests (direct aggluti-
affect the nasal septum and palate (Figure 7-17). This form may nation test [DAT] or uorescent allergosorbent test [FAST]) are
occur months to years after what appears to be healing of cutaneous highly sensitive for detection of leishmania antibodies. Culture of a
leishmaniasis. bone marrow aspirate or PCR improve diagnostic yield. 43
Distrib ution Diffe re ntial d iag nosis
-
and face (Figure 7-15). rosy, sarcoidosis, pyoderma gangrenosum, primary syphilis, and
venous stasis ulcers.
Note that the sand y would generally have more access to bite the face
and extremities where clothing is less likely to be a protective barrier. typhoid fever, and lymphoma.
A B
FIGURE 7-16 Wid e sp re ad le ishmaniasis in a young African g irl with involve me nt from the face and trunk. The multip le nod ule s on the face could
b e le p romatous le p rosy or lup us b ut b y skin snip te sting , the d iag nosis of le ishmaniasis was con rme d . Fig ure s A shows a typ e o f le ishmaniasis that
is calle d lup oid le ishmania. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 2
54 CHAPTER 7
EYES—TRACHO MA
EPIDEMIO LO GY AND GEO GRAPHIC DISTRIBUTIO N

Chlamydia trachomatis is the leading infectious cause of blindness,
accounting for 3 percent of the world’s blindness. Globally, 21.4 mil-
lion people have trachoma, and of these, 1.2 million are blind. 47 Tra-
choma is associated with poor sanitation, inadequate water supply, and
lack of personal hygiene. It is transmitted from person to person via
unwashed ngers, ies, and close family contact (sharing of face towels
and bedclothes). Trachoma is endemic in Africa (especially in the dri-
est regions) India, South Asia, Australia, and parts of South America.
Patients experience in ammation of the eye with watery discharge,
itching, burning, and blurry vision. Examination of the tarsal conjunc-
FIGURE 7-17 Se ve re mucocutane ous le ishmaniasis causing d e struc- tiva reveals follicles (round swellings that are paler than the surrounding
tion of the nose . (Use d with p e rmission from Richard P. Usatine , MD.) conjunctiva, at least 0.5 mm in diameter). With progression, intense
trachomatous in ammation develops, producing in ammatory thicken-
ing of the tarsal conjunctiva, which appears red and thickened with
Manag e me nt numerous follicles (Figure 7-18).
Nonp harmacolog ic Eventually, trachoma causes scarring, with white lines or bands in
the tarsal conjunctiva as well as trichiasis, in which eyelashes turn
inward and begin to rub against the cornea, and entropion, or inward
Me d ications turning of the eyelid itself. With time, this chronic rubbing causes
corneal opacity and blindness (Figure 7-19).
stibogluconate (available from the CDC) and meglumine anti-
monate. 45,46 Other medications used include miltefosine (the DIAGNO SIS
only oral drug for leishmaniasis) uconazole and liposomal Although laboratory diagnostic testing is available for staining
amphotericin b (this is the only drug with FDA approval for C. trachomatis in scrapings from the tarsal plate, most settings where
visceral leishmaniasis in the US). 45,46 Amphotericin b is trachoma is endemic do not offer this resource, and visual inspection
the standard of care in India because of antimonial of the everted upper eyelid must suf ce. Each eye should be exam-
resistance. 44 ined for trichiasis and corneal opacities. The upper eyelid is everted
by asking the patient to look down, holding eyelashes between thumb
Surg e ry and nger, and everting the lid using a cotton-tipped applicator. The
- everted lid is then checked for follicles, in ammation, and scarring.
neous or cutaneous leishmaniasis.
PREVENTIO N O F VECTO R-BO RNE DISEASES

Prevention is a public health priority that must include vector (mos-
quito and sand y) control, elimination of standing water in house-
holds and gardens, insect repellant containing 20 percent to 30 per-
cent DEET, and permethrin-coated bednets. Sand ies and Anopheles
mosquitoes bite from dusk to dawn, but the Aedes aegypti vector
of dengue fever bites any time during the day, making daytime use
of mosquito repellant especially important in dengue-endemic
areas.
PRO GNO SIS
cases and in other cases it may persist and resist treatments. The
prognosis is related to the severity of the case and the commu-
nity of the host. Even in those cases that resolve scarring is FIGURE 7-18 Trachoma causing p romine nt follicle s on the up p e r e ye -
frequent. lid in a p e rson infe cte d with C. trachomatis. Note how ip p ing the e ye -
lid is ne e d e d to se e the follicle s und e r the up p e r e ye lid . (Use d with
p e rmission from Richard P. Usatine , MD.)
PART 2
GLO BAL HEALTH 55
FIGURE 7-20 An Ame rican me d ical stud e nt is washing the fe e t of

Ethiop ian schoolchild re n to tre at skin infe ctions and to e d ucate the m
FIGURE 7-19 Blind ne ss cause d b y untre ate d trachoma. Althoug h this on p re ve ntive hyg ie ne me asure s. (Use d with p e rmission from Richard P.
is one of the most commo n cause s of b lind ne ss world wid e , trachoma is Usatine , MD.)
e asily tre atab le with a sing le d ose of oral azithromycin. Pre ve ntion is
achie ve d throug h b e tte r acce ss to wate r and soap , tog e the r with e d u-
cation ab out the thre e “Fs”: ie s, ng e rs, facial hyg ie ne . (Use d with
shampoo for granted. In developing countries, even if water is available,
it may not be accessible as warm running water for showers or baths.
When an intervention as simple as mass distribution of free soap
The differential diagnosis of trachoma includes allergic conjunctivitis for personal hygiene draws enormous crowds to a mobile clinic,
(which can also produce follicles of the tarsal plate), and bacterial or the vastness of inequality in access to basic health measures around
viral conjunctivitis. the world becomes painfully obvious. Although people recognize the
importance of access to soap and clean water, the absence of this lux-
MANAGEMENT ury results in skin infections and infestations that are highly prevalent
and spread from person-to-person (Figure 7-20).
children in a single dose. We can divide the skin diseases into infestations, bacterial, viral,
and fungal infections. All of these skin infections are covered in the
10
dermatology section of this book. Here we highlight some cases seen
in developing countries.
Scabies (see Chapter 128, Scabies) is caused by a human mite that
burrows under the skin causing itching and leading to scratching. The
PREVENTIO N itching and scratching may keep the person awake at night and may
Preventive measures include community hygiene education, use of lead to bacterial superinfections (Figure 7-21). Scabies is spread by
soap and water for washing hands and faces, and control of ies
through use of ventilated improved pit (VIP) latrines. The WHO has
developed the acronym “SAFE” for the global elimination of trachoma:
S Surgery for entropion and trichiasis
A Antibiotics for infectious trachoma
F Facial cleanliness to reduce transmission
E Environmental improvements such as control of disease-spreading
ies and access to clean water48
SKIN
INFECTIO US SKIN DISEASES

Many of the skin diseases encountered in resource-limited countries are
secondary to crowded living conditions and lack of clean water and
soap. Scabies mites and human lice are endemic in many populations
that are unable to wash frequently. If clean water is scarce, it is more
FIGURE 7-21 Bad ly sup e rinfe cte d scab ie s with p ustule s and crusting
likely to be used for drinking and cooking than bathing. In developed sore s on this young child ’s le g . (Use d with p e rmission from Richard P.
countries, we take clean running water (hot and cold), soap, and Usatine , MD.)
PART 2
56 CHAPTER 7
FIGURE 7-24 Imp e tig o cause d b y a b acte rial infe ction on the b ut-
tocks of this child in Haiti. Imp e tig o is more p re vale nt whe n the re is
inad e q uate hyg ie ne and lack of acce ss to he alth care . (Use d with
FIGURE 7-22 A malno urishe d b ab y with marasmus is infe ste d with p e rmission from Richard P. Usatine , MD.)
scab ie s se e n on the hand s and arms. Lack of ad e q uate nutrition also is
a risk factor for many infe ctions and d ise ase s. The scab ie s infe station is
a marke r for scarcity of cle an wate r; the conse q ue nce s of b oth may b e infection that presents with honey crusts (Figure 7-24) or bullae.
contrib uting to the child ’s irritab ility and p oor fe e d ing . (Use d with p e r-
mission from Richard P. Usatine , MD.)
Good hygiene can prevent impetigo and therefore is not surprising
that many cases of impetigo will be seen in countries that lack access
to soap and clean water. Impetigo is often secondary to other skin dis-
direct skin contact (Figures 7-22 and 7-23), shared bedding and eases such as scabies or fungal infections that create breaks in the skin
clothing, and occasionally by fomites. barrier function. Cases of secondarily infected scabies and tinea are
Human lice (see Chapter 127, Lice) exist as 3 separate species that seen commonly in developing countries.
are known as head lice, body lice, and pubic lice. Schoolchildren are
particularly at risk for head lice, and in areas with limited head washing,
the majority of kids may be infested. Body lice live on clothing and feed -
on the blood of their host. Body lice are more prevalent on adults that
bathe rarely and wear the same unwashed clothing day after day. Pubic 119, Plantar Warts) include herpes simplex, varicella zoster, molluscum
lice are transmitted through sexual contact and are not known to be contagiosum, and human papilloma virus infections. These infections are
more prevalent in developing countries. Water and hygiene issues do seen commonly in HIV-infected persons who are not receiving optimal
predispose to increased head and body lice in developing countries. antiretroviral therapy. In countries with a high prevalence of HIV-
Bacterial infections of the skin (see Chapter 99, Impetigo) are infected persons, a severe case of molluscum, warts, or shingles in a
ubiquitous throughout the world. Impetigo is a super cial bacterial young person should prompt a clinician to consider HIV testing, if pos-
sible. Molluscum infections and warts are so ubiquitous throughout the
world that it is important to realize that healthy people with healthy
immune systems can get these infections too. Viral exanthems caused by
such diseases as varicella and measles may be more prevalent in countries
where vaccinations are less available.
the head down to the toes. Heat, humidity, and lack of bathing are
predisposing factors to fungal skin infections. Therefore, tropical
developing countries provide good environments for tinea capitis
(Figure 7-25), tinea corporis, and tinea pedis.
MYCO BACTERIUM (LEPRO SY AND

TUBERCULO SIS-HIV CO INFECTIO N)
LEPRO SY
FIGURE 7-23 Scabies infestation covering the mother’s breast and her Patie nt story
baby’s hand. With poor access to health care, this infestation would likely
remain untreated, and could lead to bacterial superinfection and impetigo A young boy presents with signi cant changes to his face (Figure 7-26).
on the baby’s skin. (Used with permission from Richard P. Usatine, MD.) The boy and his father are from rural Africa, and it is obvious to the
PART 2
GLO BAL HEALTH 57
Introd uction
Leprosy (Hansen disease) is caused by M. leprae and is still endemic in
many parts of the developing world where there is poverty and poor
access to clean water. At one time, persons with leprosy were called
“lepers” and isolated to leper colonies because the disease was dis g-
uring and the communities were afraid that it was highly contagious.
Current science and epidemiology tell us that leprosy is transmitted
via droplets from the nose and mouth during close and frequent con-
tact over a period of years, and not by casual contact. Thus doctors
working with patients who have leprosy are at no real risk of becom-
ing infected. Issues related to stigma and discrimination still do exist.
Ep id e miolog y
-
FIGURE 7-25 Tine a cap itis in this young b oy living in a d e ve lop ing tries in 2011. 49
country. Many child re n live with untre ate d tine a cap itis in d e ve lop ing 49
countrie s b e cause of limite d hyg ie ne re source s and p oo r acce ss to
he alth care . (Use d with p e rmissio n from Richard P. Usatine , MD.)
about 4 million from 2000 to 2010. 50
physician that the boy has lepromatous leprosy. The father is also exam- Etiolog y and p athop hysiolog y
ined and he has more subtle signs of leprosy present (several patches of -
hypopigmented anesthetic skin). A slit skin exam is performed on the logic reaction to the infection. The 2 opposite ends of the spectrum
ear lobe of the boy and many acid-fast bacilli, characteristic of Mycobacte- consist of:
rium leprae, are found. The boy is started on the WHO-standard multi- ~ Lepromatous leprosy in which there is a strong antibody response
drug therapy using rifampin, clofazimine, and dapsone. The father is and a poor cell-mediated community resulting in larger amounts
also examined and treated. of M. leprae in the tissues (Figure 7-26).
A B
FIGURE 7-26 Le p romatous le p rosy with le onine facie s in a young b oy. A. Note the loss o f e ye b rows calle d mad arosis. B. Also note the p romine nt
e ar involve me nt. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 2
58 CHAPTER 7
FIGURE 7-27 Le p rosy with hyp op ig me nte d p atche s on the b ack of FIGURE 7-28 Clawhand cause d b y the ne urolog ical d amag e of le p -
this young b oy. The se p atche s are numb d ue to cutane ous ne rve d am- rosy in the same b oy as in the p re vious p hoto. This cond ition may b e
ag e from mycob acte rial infe ction. He also has a Be ll’s p alsy. (Use d with ame nab le to surg ical inte rve ntion involving te nd on transfe r. (Use d with
p e rmission from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
~ Tuberculoid leprosy in which there is a strong cell-mediated

immunity and a poor antibody response resulting in less M. leprae of ngers as a result of bone resorption in hands that have
in the tissues. This tends to present with hypopigmented anes- become anesthetic and not protected from repeated trauma
thetic patches (Figure 7-27). (Figure 7-29).
Distrib ution
mediated immunity and antibody response showing features of both
lepromatous leprosy and tuberculoid leprosy. The nodules of lepromatous leprosy are mostly seen on the face and
ears but can be seen in other areas. Hypopigmented patches can be
seen anywhere on the body including the face.
paucibacillary (fewer organisms) or multibacillary leprosy. Lepro-
matous leprosy and borderline lepromatous leprosy are most likely Lab oratory te sting
to be multibacillary.
for bacillary index is the most important test to determine if the
Risk factors
patient has multibacillary or paucibacillary leprosy.
endemic areas), a skin punch biopsy of a suspicious lesion is useful

for nding M. leprae in the tissues.
M. leprae.
Diag nosis
Clinical fe ature s
seen in Figure 7-26), elongated and dysmorphic earlobes, and saddle-

nose deformities from destruction of the nasal cartilage and bone.
hypopigmented patches in tuberculoid (Figure 7-27) and bor-

derline leprosy, and annular saucer-like lesions in borderline
leprosy.
the ngers as seen in Figure 7-28), wristdrop, footdrop, Bell’s

palsy, hammertoes, and sensory neuropathy leading to neurotropic
ulcers and traumatic blisters.
FIGURE 7-29 Le p rosy has cause d this old e r man to lose his ng e rs
lagophthalmos (the inability to close the eyelid completely), and b ut he continue s to le ad a p rod uctive life we aving rug s for sale at a
blindness. le p rosy hosp ital. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 2
GLO BAL HEALTH 59
Diffe re ntial d iag nosis

Super cial mycoses, vitiligo, and cutaneous lariasis all cause changes
in pigmentation similar to leprosy. In ltrated lesions that resemble
leprosy include those of leishmaniasis, psoriasis, and sarcoidosis. 52
Manag e me nt
Early diagnosis and multidrug therapy are essential to reducing the dis-
ease burden of leprosy worldwide. The WHO has supplied multidrug
therapy free of cost to leprosy patients in all endemic countries. 51
disability.
clofazimine for multibacillary leprosy patients, and rifampin and

dapsone for paucibacillary patients.
and 6 months for paucibacillary patients. 52
development of drug resistance to that drug and is therefore an

unethical practice.
obtain free multidrug treatment are essential to eliminating leprosy

in the world. Research on a preventive vaccine continues in tandem
with Mycobacterium tuberculosis vaccine research. 53
FIGURE 7-30 Young girl who acq uired HIV at birth and now has papular
p ruritic eruption. One in three children b orn to HIV-infected mothers may
should include foot and hand care to prevent further damage to b e infected ; mother-to-child transmission is p reventab le with simple and
these insensitive limbs. 52 afford ab le antiviral regimens. Fortunately this girl had no signs or symp-
toms of tuberculosis. (Used with permission from Richard P. Usatine, MD.)
as tendon transfer to correct the clawhand, may be available in

some centers. 54
findings of upper lobe fibronodular or cavitary disease, and
TUBERCULO SIS AND HIV extrapulmonary presentations (lymphadenitis, pleuritis, pericardi-
Ep id e miolog y tis, or meningitis) are seen. Tuberculous lymphadenitis and cuta-
neous TB (designated scrofula when it affects the neck) are illus-
Tuberculosis (TB) is a very common HIV-associated infection, and trated in Figures 7-31 and 7-32. Tuberculous lymphadenitis and
causes at least 13 percent of HIV-associated deaths worldwide. 55 In
2010 alone, the WHO estimated there were 1.1 million HIV-associ-
ated new cases of TB, the majority of who live in sub-Saharan Africa
(Figure 7-30). Globally, about 1/ 3 of HIV-infected people are co-
infected with TB (at least 11 million people) (Figure 7-31). 56
Pathog e ne sis
TB is transmitted by aerosolized respiratory droplet nuclei (see Chap-
ter 186, Pediatric Tuberculosis). Weakened cell-mediated immunity
in HIV-infected individuals allows more rapid disease progression and
causes higher mortality rates from TB. At the same time, untreated
TB infection accelerates immunologic decline in HIV infection.
Because these two diseases preferentially af ict populations with
reduced access to medications and supportive care, the emergence of
multidrug resistant TB has become an increasing threat.
The clinical presentation of TB in an HIV-infected person with a
relatively preserved immune system (CD4+ T-cell count greater FIGURE 7-31 Young Ethio p ian g irl with HIV since b irth who has ne ck
than 350 cells/ µL) is identical to that seen in HIV-negative swe lling se cond ary to tub e rculosis. She also has tine a cap itis. HIV is a
hig hly stig matizing d ise ase in most culture s, and clinicians can p lay an
patients. With increasing immunodeficiency, however, TB often imp ortant role in mitig ating community stig ma b y mod e ling co mp as-
presents atypically. Chest radiographs may not demonstrate classic sio nate care . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 2
60 CHAPTER 7
FIGURE 7-32 Scrofula of the ne ck cause d b y M. tub e rculosis in a FIGURE 7-34 Scrofula of the g roin cause d b y M. tub e rculosis in
child . Chronic d rainag e and stulous tract formation are commonly 4-ye ar-old g irl. This is an e arly case and rap id re cog nition should le ad
associate d with this e ntity, and the rap y is the same as for p ulmonary to e arly tre atme nt. (Use d with p e rmission from Richard P. Usatine , MD.)
tub e rculosis. (Use d with p e rmission from Richard P. Usatine , MD.)
Manag e me nt
Management of TB in HIV-positive adolescents is generally similar to
cutaneous TB can also affect the inguinal lymph nodes and groin adults and is discussed in the following section. Optimal treatment
(Figures 7-33 and 7-34). regimens for younger children however have not been established.
Diag nosis Late nt TB infe ction

HIV screening should be performed in all patients diagnosed with HIV-positive patients with latent tuberculosis infection (LTBI) should
TB, and HIV-infected patients should be screened annually for have a chest x-ray and three sputum smears or gastric aspirates for
M. tuberculosis with purified protein derivative (PPD) skin testing, acid-fast bacilli to rule out active disease. Once active TB is ruled out,
chest x-ray, and/ or blood test for interferon-γ release assay isoniazid prophylaxis should be initiated regardless of age for any HIV-
(IGRA) depending on availability. Patients with low CD4 cell positive person with the following characteristics: (a) a positive diagnos-
counts and percentages, as defined by age, commonly have poorly tic test for LTBI, (b) a negative LTBI test but with evidence of old or
reactive skin tests for TB, and thus need a careful history of expo- poorly healed brotic lesions on chest x-ray, or (c) negative LTBI diag-
sures, review of symptoms, physical examinations, and monitor- nostic test in a close contact of a person with infectious pulmonary TB.
ing of the chest x-ray for evidence of active disease, with repeat Duration of LTBI prophylaxis: Isoniazid 300 mg daily or twice
TB screening when the CD4 cell count rises above reference weekly for 9 months given with vitamin B6 (pyridoxine 25 mg daily).
levels for age. An alternative regimen of 12 doses of once weekly isoniazid-rifapentine
has recently been validated. Pyridoxine prevents isoniazid-associated
peripheral neuropathy. 57
Active M. tub e rculosis d ise ase

Any HIV-positive patient with cough and pulmonary in ltrates should
be placed in respiratory isolation until TB is ruled out by 3 separately
obtained sputum smears (Ziehl-Neelsen) with cultures sent for acid-
fast bacilli. This rule applies even when the chest radiograph does not
demonstrate cavitary or upper lobe in ltrates. Smear-negative,
culture-positive M. tuberculosis is not uncommon.
Treatment regimens for HIV-TB coinfected patients are largely
identical to those of TB mono-infected patients. It is important not to
start antiretroviral therapy (ART) and TB therapy simultaneously, to
avoid confusion about drug allergies and side effects. In addition,
there is a risk of immune reconstitution syndrome (IRIS [immune
reconstitution in ammatory reaction]: in ammatory response that
worsens manifestations of any opportunistic infection) when ART is
started too soon after initiatingTB medication.
FIGURE 7-33 Scrofula in the ing uinal are a cause d b y M. tub e rculosis.
The p atie nt ap p e ars syste mically ill with we ig ht loss. (Use d with Guidelines for ART in TB coinfection are speci c. If the CD4 cell
p e rmission from Richard P. Usatine , MD.) count is less than 50, ART should start within 2 weeks ofTB therapy. If
PART 2
GLO BAL HEALTH 61
the CD4 count is greater than 50, ART should start within 8 to country organizations. Ultimately, well-prepared medical educators
12 weeks ofTB therapy. If IRIS does occur, both ART and TB treatment and clinicians, wherever they may come from, are uniquely posi-
should be continued while managing the IRIS. 58 tioned to share knowledge that saves lives and leads to a more equi-
Directly observed therapy (DOT) for TB is strongly recommended table world.
for HIV-TB coinfected patients.
PRO VIDER AND PATIENT RESO URCES REFERENCES

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12. Levine MM, Gotuzzo E, and Sow SO. Cholera Infections. In:
graphic boundaries. Whatever one’s personal motivation, such expe-
Guerrant RL, Walker DH, Weller, PF. eds. Tropical Infectious
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Medical professionals should learn in advance of their travels about
the culture, language, and expressed needs and priorities of the local
government and health providers and their service populations. In 13. Penny ME. Diarrhoeal Diseases. In: Eddleston M, Davidson R,
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measures (vaccines and malaria prophylaxis) to protect their own 14. Centers for Disease Control and Prevention. Cholera Diagnosis and
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15. Centers for Disease Control and Prevention. Recommendations for and Programme Managers. Geneva, Switzerland: World Health
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PART 3
PHYSICAL AND
SEXUAL ABUSE
St re ng t h o f
(SO R) De nit io n

PART 3
66 CHAPTER 8
PHYSICAL AND SEXUAL ABUSE
8 CHILD PHYSICAL ABUSE

Jame s And e rst, MD, MS
Ashle y D. Hop kins, MD
PATIENT STO RIES
CASE 1
A 1-month-old child was seen in the emergency department for
bruising. Physical examination revealed bruises to the buttocks,
chest, and eye. The parents reported that the child received the but-
tock bruise (Figure 8-1) after being dropped by the father, that the
chest bruise was from the child’s seat belt, and the eye bruise from
accidentally hitting the child with an elbow while co-sleeping. The
social worker was consulted and found no concerning “red ags” in
the family. The emergency department physician felt the ndings
were because of inexperienced parents. The child was sent home
with the parents and the emergency department later reported the FIGURE 8-2 He aling e ig hth p oste rior rib fracture in the same child
case to Child Protective Services (CPS) in hopes of providing the from Fig ure 8-1. A ske le tal surve y is ind icate d in any child young e r than
family with support services. A child abuse pediatrician (CAP) was 2 ye ars of ag e whe re susp icions of p hysical ab use e xist. (Use d with p e r-
mission from Jame s And e rst, MD, MS.)
consulted by CPS to review the case the next day. The CAP
requested that the child be brought back to the hospital emergently
for further evaluation. At that time, a skeletal survey, including
oblique views of the ribs, showed a healing fracture of the eighth attended a family gathering where concerned relatives viewed the
posterior rib (Figure 8-2). A head CT and liver function tests were mother’s story that the child “falls a lot” with suspicion. On exami-
performed to screen for occult trauma and laboratory tests were nation there were many signs of physical abuse (Figures 8-3 to
done to evaluate for a bleeding diathesis. All were negative. Law 8-5). His face was covered with bruises, especially around the right
enforcement was contacted and coinvestigated with CPS. The child eye and cheek (Figure 8-3). His axilla showed signs of being gouged
was placed in the home of a relative. Two weeks later, a repeat skel- with ngernails (Figure 8-4). Although an initial skeletal survey did
etal survey showed new bone formation over the right femur, not show any fractures, a repeat skeletal survey and oblique views of
indicating a healing fracture. the ribs were done 2 weeks later. The second skeletal series showed
eight healing rib fractures. Repeat skeletal surveys are recommended
CASE 2 in children younger than 4 years of age, who are con rmed or sus-
pected victims of abuse (Figure 8-5). The child was admitted to the
A 15-month-old child is brought to the emergency department by
the police after a relative called 911. The child and his mother
FIGURE 8-3 A 15-month-old b oy who has b e e n p hysically ab use d b y

his mothe r’s b oyfrie nd for se ve ral we e ks. The re is b ruising und e r b oth
FIGURE 8-1 Bruising to the le ft b uttock note d in a 1-month-old child . e ye s, with the g re ate st d e g re e of b ruising se e n und e r the rig ht e ye and
Any b ruising on an immob ile child is hig hly conce rning for child p hysi- on the rig ht che e k. The b oy is in the e me rg e ncy d e p artme nt afte r con-
cal ab use . Ble e d ing d isord e rs must b e consid e re d in the d iffe re ntial ce rne d re lative s calle d the p olice . (Use d with p e rmission fro m Jame s
d iag nosis. (Use d with p e rmission from Jame s And e rst, MD, MS.) And e rst, MD, MS.)
PART 3
CHILD PHYSICAL ABUSE 67
INTRO DUCTIO N
The appropriate identi cation of child physical abuse is critical. Misdi-

agnoses in either direction (missed abuse or inappropriate diagnosis of
abuse) are extremely harmful to the child and family. A careful evalua-
tion of each case, coupled with an application of the existing scienti c
data on child physical abuse, may result in improved outcomes for the
child and family.
EPIDEMIO LO GY
FIGURE 8-4 Same 15-month-old b oy from Fig ure 8-3 with multip le n-
g e rnail g oug e s in his rig ht axilla. Some are fre sh and one ap p e ars to
b e old e r and some what cruste d . Injurie s in d iffe re nt stag e s of he aling 1
may ind icate chronicity of ab use . (Use d with p e rmission from Jame s Of these:
And e rst, MD, MS.) ~ Seventy-eight percent were neglected.
~ Eighteen percent were physically abused.
~ Nine percent were sexually abused.
~ Eight percent were psychologically abused.
hospital and the police, hospital social workers, and CPS were noti-
ed. In the emergency department, the child was evaluated by a
forensic nurse examiner trained in child-abuse photo documenta- or with another person.
tion. The child was then referred to a CAP who assessed mechanisms
of injuries, reexamined the child, and interpreted the initial and
follow-up skeletal surveys.
RISK FACTO RS
Caregiver factors associated with child abuse include the following:2–4
~ Was abused during childhood.

~ Parents’ rearing practices modeled.
~ Mental illness or substance abuse.
Factors speci c to the child that are associated with abuse:2
Environmental factors associated with abuse:
DIAGNO SIS
FIGURE 8-5 Same b o y from Fig ure 8-3 with ob liq ue x-ray showing
he aling rib fracture s with callus in e ig ht d iffe re nt locations as marke d
b y the arrows. The d e g re e of callus formation shows that the se rib frac- CO NCERNING HISTO RY5
ture s are not ne w. O b liq ue rad iog rap hs should b e re q ue ste d in ad d i-
tion to a “ske le tal surve y” b e cause late ral rib fracture s are b e st se e n
with this vie w. (Use d with p e rmission from Jame s And e rst, MD, MS.)
PART 3
68 CHAPTER 8
FIGURE 8-7 Tod d le r b e ing se e n for a b urn cause d b y hair straig hte ne r.
The family claime d the iron fe ll onto the le g b ut furthe r inve stig ation
FIGURE 8-6 Line ar e cchymosis on the che e k of a b ab y who was se e me d to ind icate that the iron was ap p lie d to the child b y an ang ry
slap p e d in the face b y an ab usive p are nt. (Use d with p e rmissio n from p are nt to control a crying child . Althoug h the iron falling could e xp lain
Jame s And e rst, MD, MS.) the injury on the calf, it d oe s not e xp lain the ad d itional injury hig he r up
on the le g . (Use d with p e rmission from Jame s And e rst, MD, MS.)
-
erations (typically from a bottle, nger, or other object forced into
the child’s mouth). 12
and availability of transportation).
withholding of food and/ or liquids.
LABO RATO RY STUDIES AND IMAGING

CLINICAL FEATURES
time/ partial thromboplastin time (PT/ PTT), complete blood
~ In children who are not independently mobile.
~ Seen away from boney prominences. Testing best done in collaboration with a CAP or pediatric
~ To the face, hands, ears, buttocks, back, abdomen, and arms. hematologist.
~ In the shape of an imprint of an object or hand, or a ligature
(Figure 8-6).
(LFTs), amylase, lipase, urinalysis; CT of abdomen recommended
~ Multiple bruises in clusters.
if laboratory results are elevated or urinalysis positive for blood. 14
7
~ Inconsistent with history (Figure 8-7).

views of the ribs) in children younger than 2 years of age or non-
~ Stocking/ glove distribution.
verbal children; consider radionuclide bone scan to look for acute
~ Well-demarcated edges.
fractures, or a follow-up skeletal survey 2 weeks after initial
~ Symmetrical burns.
presentation. 15
~ No splash marks.
young children, even if there are no clinical signs of intracranial

~ Rib fractures.
injury; ophthalmology examination for retinal hemorrhages.
~ Fractures in immobile children that are not attributable to birth
injury.
~ Multiple fractures and/ or multiple fractures of different ages. DIFFERENTIAL DIAGNO SIS
~ Fractures in the absence of a history of trauma.
~ Any fracture that is inconsistent with the reported mechanism.
~
~ Highly variable clinical presentation; however, presence of apnea, very concerning for abuse. Accidental bruising is much more
retinal hemorrhages, and/ or rib fractures is more strongly associ- common in cruising or walking children. 17 Any in icted bruis-
ated with in icted (versus nonin icted) intracranial injury. 9, ing or skin markings (including those from spanking or other
~ Mild abusive head injury may present with isolated vomiting or punishment) lasting more than 24 hours constitutes abuse.
fussiness. 11 Ear bruising is very speci c for abuse (Figure 8-8). 19 It is not
PART 3
FIGURE 8-8 Bruising of the e ar in a young b oy who was p hysically

ab use d b y a p are nt. Ear b ruising is rare ly accid e ntal. The ad d itional
b ruising on the che e k sug g e sts this child was hit with a hand or
anothe r ob je ct to p rod uce the b ruising se e n in this p hoto. (Use d with
p e rmission from Jame s And e rst, MD, MS.)
FIGURE 8-10 Young g irl with se ve re sub g ale al he mato ma with e xte n-
sive b loo d tracking into the up p e r face afte r b e ing lifte d o ff the
possible to accurately date bruises. Accidental bruising is g round b y he r hair. Blood tracking afte r sig ni cant injury is most com-
typically located on the shins, lower arms, under chin, fore- monly se e n o n the face , althoug h so me injurie s to the g e nitals may
also track into the p e rine um. (Use d with p e rmissio n fro m Jame s
head, hips, elbows, ankles, and bony prominences. Loop-like And e rst, MD, MS.)
bruising is suspicious for blows with a cord or a looped belt
(Figure 8-9).
~ ~
seen with severe injuries to the head from violent hair pulling (dark, puffy lower eyelids) and Mongolian spots (macular blue-
(Figure 8-10). gray pigmentation usually on the sacral area of normal infants,
~ - usually present at birth or appear within the rst weeks of life;
ratory test results, vitamin K de ciency. see Chapter 92, Normal Skin Changes).
~
Henoch-Schönlein purpura, phytophotodermatitis (skin reaction ~ Accidental burns (splash marks usually seen).
to psoralens, most commonly found in limes), osteogenesis ~
imperfecta (brittle bones). ~ Chemical burn caused by senna containing laxatives.

~
~ -
gility; patients may have repeated fractures after mild trauma
that heal readily. Other features seen in some cases include blue
sclera, easy bruising, and deafness (see Chapter 225, Osteogen-
esis Imperfecta).
~ -
sively breastfed infants, dark-skinned children, children with lit-
tle sun exposure. The metaphyses show widening and cupping
with irregular calci cation as a result of poor calci cation of oste-
formula, breastfeeding dif culty, organic diseases such as cystic

brosis, HIV, metabolic disorders, celiac disease, and renal
disease21
FIGURE 8-9 Young g irl with line ar b ruising on the b ack, b uttocks, and
thig h from b e ing hit with a b e lt. O ne b ruise ap p e ars to have a loop -like
form (arrow) and was like ly cause d b y b lows with a cord or a loop e d infection, coagulation disorders, birth injury, and rare metabolic
b e lt. Blows with e xib le ob je cts p rod uce p atte rns that te nd to conform conditions (glutaric aciduria).
to the curve d surface s of the b od y, whe re as in e xib le ob je cts may p ro-
d uce a d iscontinuous p atte rn ove r curve d surface s. (Use d with p e rmis- Figure 8-11), cupping, moxibustion
sion from Nancy Ke llog g , MD.) (cultural practice of burning herbs on skin).
PART 3
70 CHAPTER 8
PATIENT EDUCATIO N
~ Home visitation programs have been shown to reduce child abuse

and child mortality.
~ Nursery-based prevention of abusive head trauma. 24
~ Speci c models of primary care may reduce abuse. 25
~ Population-based prevention.
~ Parent–child interactive therapy (PCIT) reduces repeat abuse. 27
FO LLO W-UP
2 weeks to look for evidence of healing fractures.
ndings concerning abuse.
signs of abuse and neglect.
PATIENT RESO URCES

FIGURE 8-11 Young b oy with the marks of co ining on his b ack. A coin
was rub b e d across his b ack le aving e cchymose s ove r b ony p romi- http:// childhelp.org/ .
ne nce s with the inte nt to he lp the child he al from an acute illne ss. This
cultural p ractice is more co mmon among Asian immig rants to this
http:// www
country and mimics child ab use . (Use d with p e rmission from Maria .preventchildabuse.org/ index.shtml.
McColg an, MD.)
http:// www.childrensmercy.org/ mic/ .

MANAGEMENT
http:// pediatrics.aappublications
accordingly. .org/ cgi/ content/ full/ 119/ 6/ 1232.
tenderness or callus formation, signs of abdominal trauma or www.apsac.fmhi.usf.edu/ index.asp.

neurologic abnormalities, ophthalmologic evaluation for retinal
hemorrhages. http:// www.childabusemd.com/ index.shtml.
accurately, including pictures.

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nism, the role of neglect must be considered.
2. Giardino AP, Alexander R. Child Maltreatment: A Clinical Guide and
Reference
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~ Reporter of abuse is granted legal immunity.
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outcomes. 22 (4):777-779.
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Child Abuse and Neglect. Evaluation of suspected child physical Neglect: When in icted skin injuries constitute child abuse.
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7. Maguire S, Moynihan S, Mann M, et al. A systematic review of
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Arch Dis Child

Educ Pract Ed. neglect. Pediatrics.
22. Anderst J, Kellogg N, Jung I. Is the diagnosis of physical abuse
distinguish in icted from non-in icted brain injury?A systematic changed when Child Protective Services consults a Child Abuse
review. Arch Dis Child. Pediatrics subspecialty group as a second opinion? Child Abuse
Negl
probability of abusive head trauma: A pooled analysis. Pediatrics.
Adolescent Health. The role of home-visitation programs in
improving health outcomes for children and families. Pediatrics.
abusive head trauma. JAMA.
Child Abuse and Neglect. Oral and dental aspects of child abuse change knowledge and behavior about crying and shaken baby
and neglect. Pediatrics. CMAJ.
possible abuse: presentations of congenital bleeding disorders in

childhood. Child Abuse Negl. to help prevent child maltreatment: the safe environment for
every kid (SEEK) model. Pediatrics.
Pediatrics.
population trial. Prev Sci

imaging of child abuse. Pediatrics.
interaction therapy: application to maltreating parent-child dyads.
Child Abuse Negl.
high risk abused children. Pediatrics.
those who cruise rarely bruise. Arch Pediatr Adolesc Med.

PART 3
72 CHAPTER 9
9 CHILD SEXUAL ABUSE

Nancy D. Ke llog g , MD
Maria D. McColg an, MD
PATIENT STO RY
A 12-year-old girl is being seen for chronic abdominal pain by her fam-
ily physician. The physician asks the mother to step out of the room and
does a complete history including the HEADSS (home life, education
level, activities, drug use, sexual activity, suicide ideation/ attempts)
questions. The girl tearfully reports that her stepfather has been touch-
ing her in her private areas when her mother is not home. On examina-
tion with a female nurse chaperone in the room, the physician nds that
the girl’s hymen initially appears normal (Figure 9-1). However, when
the girl is more carefully examined with a cotton-tip applicator, a healed
posterior hymenal transection is seen (Figure 9-2). When the girl is
asked whether any other types of sexual abuse occurred with her stepfa-
ther, she admits to repeated penile penetration. Although rare, some-
times the examination reveals more than what the child is willing to dis-
close about the abuse. Partial disclosures of abuse are common in
children. In addition, the ndings of sexual abuse tend to be subtle and
are easily missed if a careful examination and special techniques are not
used. Attempts are made to reassure the girl that this should never
FIGURE 9-2 Hyme nal cle ft visib le whe n the g irl in Fig ure 9-1 is more
care fully e xamine d using a saline moiste ne d cotton-tip ap p licator to
g e ntly se p arate and d e monstrate the e d g e s of the hyme n. This injury
was cause d b y se xual ab use and may have b e e n misse d without the
more care ful e xamination. (Use d with p e rmission from Nancy D.
Ke llog g , MD.)
happen and that this is not her fault. Her mother is brought back into
the room and after a sensitive discussion, the police are called and Child
Protective Services (CPS) noti ed.
HEADSS is an acronym that provides a framework for interviewing
adolescents and children about health risks. The questions start from eas-
iest and least sensitive to more sensitive questions that need to be asked:
H—home
E—education
A—activities
D—depression and drugs
S—sex and sexual abuse
S—suicide
EPIDEMIO LO GY
CPS data from 48 states in 2008 indicates there were 772,000

children con rmed as victims of abuse. 1 Of these, 9 percent were
FIGURE 9-1 Typ ical ap p e arance of the hyme n and p e rihyme nal tissue s victims of sexual abuse. Not included in these numbers are several
in a 12-ye ar-old g irl. O nce fe male s have e nte re d p ub e rty, the hyme n thousand additional victims who are sexually assaulted by
b e come s re d und ant with ove rlap p ing fold s and is more d if cult to
e xamine fo r sub tle sig ns of acute or he ale d injury. (Use d with p e rmis- nonfamily members; these cases are reported to law enforcement
sion from Nancy D. Ke llog g , MD.) but not CPS.
PART 3
CHILD SEXUAL ABUSE 73
1000 females versus 0.6 per 1000 males. 2 ~ The anogenital inspection should utilize optimal direct light
source, magni cation, and appropriate examination positions and
vagina, anus, or oral cavity, or oral–genital contact. In general, techniques.
penetrative types of abuse are associated with poorer medical and ~ Recommended examination positions include supine frogleg or
mental health outcomes. lithotomy and prone knee-chest; the latter position is particularly
important to con rm any posterior (between the 4 and 8 o’clock
positions of the hymen in supine) defects of the hymen that are
seen in supine position.
ETIO LO GY AND PATHO PHYSIO LO GY ~ Various examination techniques include labial separation and
traction (gently pulling the labia outward and inferiorly), gluteal
Child sexual abuse occurs when a child is involved in sexual activities lifting in prone knee-chest, and using cotton-tipped applicator
that he or she cannot comprehend, for which the child is develop- for separating tissues.
mentally unprepared and cannot or does not give consent, and/ or ~ In some cases, it may help to have an assistant gently squirt a
that violate laws. All states have laws that require physicians to small amount of nonbacteriostatic saline onto the hymen as the
report a suspicion of abuse to child protection or law enforcement examiner uses gentle labial traction; this procedure is used to
agencies. free folded hymenal edges.
Most sexual abuse involves an adult perpetrator the child knows ~ A speculum examination and use of a cotton-tipped applicator to
and is expected to trust who uses deception and position of authority separate hymenal edges are traumatic procedures for prepubertal
to gain the child’s acquiescence and accommodation to the abuse;4 it females and should not be used.
is not unusual for the abuse to progress from less to more severe and ~ Most ndings of anal trauma can be visualized by gently spread-
intrusive sexual acts, and for the child to wait months or years to ing the anal folds.
disclose the abuse. 9
~ Abrasions or bruising of the hymen, perihymenal structures, or

anus (Figures 9-3 and 9-4).
DIAGNO SIS ~ Acute or healed tear in the posterior aspect of the hymen extend-
ing to, or nearly to, the base of the hymen or further to the pos-
CLINICAL FEATURES terior vestibule (Figure 9-2).
~ Anal bruising or lacerations (Figure 9-5).
-
~ Petechiae or bruising on the soft palate following a history of
sion, increased sexual behaviors, somatic complaints (e.g., head-
forced oral penetration.
aches or abdominal pain, constipation, enuresis/ encopresis, genital/
anal pain), or may be asymptomatic.
reasons:
~ Child has disclosed abuse (most common); it is rare for the
abuse to be witnessed. Referrals to specialized programs with

clinicians trained in the assessment of child sexual abuse is rec-
ommended, and are generally accessible in most areas of
~ Caregiver suspects abuse and presents to the clinician because of

behavioral or physical symptoms.
~ Child is brought for routine care and sexual abuse is suspected
based on clinical ndings (e.g., acute or healed genital inju-
ries, vaginal discharge in a prepubertal child, lesions suggestive
of human papillomavirus [HPV] or herpes simplex virus
[HSV]).
victims have physical examination ndings indicative of penetra-

tive trauma because the type of sexual act either does not result
in tissue damage or because when tissue damage occurs, most
injuries heal quickly and completely. –7
adolescents, only two had evidence of penetrative trauma. 8 The
medical diagnosis relies predominantly on the child’s history and FIGURE 9-3 A 10-ye ar-old g irl with an acute te ar of the p oste rior ve sti-
b ule afte r re ce nt se xual assault b y a strang e r. The p oste rior ve stib ule is
clinicians should remember that “normal” does not mean “nothing the most common location for acute p e ne trative trauma in fe male s.
happened.” (Use d with p e rmission from Nancy D. Ke llog g , MD.)
PART 3
74 CHAPTER 9
FIGURE 9-5 Acute re ctal lace ration in a young b oy who was se xually
ab use d b y a re lative . More than 95 p e rce nt of anal e xaminations in chil-
d re n with a history of anal p e ne tration are normal or nonsp e ci c. (Use d
with p e rmission from Nancy D. Ke llog g , MD.)
-
uation.
FIGURE 9-4 Acute hyme nal he matoma in a p re p ub e rtal g irl from
p e nile p e ne tration/contact. O ne re ason why the consid e rab le majority
of e xaminations are normal may b e that contact is more common than complete testing for STIs with prolonged incubation periods
comp le te p e ne tration and injurie s re sulting from p e nile contact are (especially HPV), assess resolution of injuries, and ensure emo-
uncommo n or are minor injurie s that he al q uickly and comp le te ly
within d ays. (Use d with p e rmission from Nancy D. Ke llog g , MD.) tional recovery.
LABO RATO RY TESTS AND IMAGING
to 96 hours (protocols vary from region to region) prior to clinical

presentation (consider referring to an emergency department or
rape crisis center skilled in performing forensic evidence collection
on children).
-
cents acquire a sexually transmitted infection (STI) from the abuse9
(Figure 9-6).
prepubescent children with a history of genital contact with any

ori ce.
syphilis), cultures or nucleic acid ampli cation tests (with con r-

mation) for chlamydia, and gonorrhea and culture or polymerase
chain reaction (PCR) for trichomonas.
present (Figure 9-6).
required only if lesions are atypical or resistant to treatment FIGURE 9-6 Herpes simplex virus (HSV) type 1 infection on the vulva of
the prepubertal girl caused by sexual abuse. HSV type 1 of the genitals
(molluscum contagiosum is a mimic and not sexually transmitted from sexual contact is increasing in prevalence relative to HSV type 2 infec-
in children). tions of the genitals. (Used with permission from Nancy D. Kellogg, MD.)
PART 3
CHILD SEXUAL ABUSE 75
DIFFERENTIAL DIAGNO SIS
In females, the following may be confused with abuse:
majora, labia minora, or posterior fourchette may be seen.

Although rare, accidental penetrating injury involving perihymenal
tissues occurs, but rarely.
anterior hymenal clefts, midline vestibule white lines, perineal

defects, and narrow hymenal rims.
-
tion, or seborrhea.
-
cus, poor hygiene, candidiasis)—Complaints include vaginal irrita-
tion or itching and vaginal discharge; wet prep and/ or culture may
be helpful.
sexual abuse. It may present with bleeding, bruising, and/ or vulvar

itching, and the examination shows subepidermal hemorrhages FIGURE 9-8 Lab ial ad he sion can b e confuse d with scarring se cond ary
and/ or atrophic changes with areas of hypopigmentation over the to child se xual ab use . This acq uire d cond ition is common in p re p ub e r-
tal g irls and thoug ht to b e re late d to hyg ie ne , irritation, and p ossib ly
vulva, perineum, and/ or anus, an “hourglass” con guration trauma. The young g irl is in sup ine frog -le g p osition. (Use d with
(Figure 9-7). p e rmission from Nancy D. Ke llog g , MD.)
- anatomic (urethral prolapse, dehiscence of a labial adhesion)

tive (overgrowth of normal ora, sensitivity to laundry deter- (Figure 9-8).
gent or fabric softeners, sequelae of pubic hair shaving) or
in pubertal females. Wet mount is normal.
In males, the following may be confused with abuse:
support pattern of injury. Most intentionally in icted injuries of

male genitals are physical, not sexual, abuse.
a result of trapped debris.
extends from the anal verge into the anal canal, may or may not
cause pain or bleeding during bowel movements. Sometimes, but
not always, associated with diarrhea or constipation.
MANAGEMENT
symptoms (but no disclosure of abuse) that include chronic stom-

achaches or headaches, school dif culties, mood changes, and
sleeping dif culties. These children should be questioned in a care-
FIGURE 9-7 Liche n scle rosus e t atrop hicus in a young g irl. This is a example, the clinician may state: “I treat other children who have
cutane ous d ise ase , b ut commonly confuse d with se xual ab use b e cause
of the sub e p id e rmal he morrhag e s. (Use d with p e rmission from Nancy problems like you do with school and headaches. Some of these
D. Ke llog g , MD.) children have told me about things that have happened to their body
PART 3
76 CHAPTER 9
or feelings that made them sad, scared, or confused. Has anything PATIENT RESO URCES
like that ever happened to you?”
http:// childhelp.org/ .
-
1–800–422–4453.
nosis and to determine appropriate testing, treatment, and the
need to report suspected abuse to child protection or law enforce- http:// www
ment. The clinician may opt not to take a history if the child was or .preventchildabuse.org/ index.shtml.
will be interviewed elsewhere; in this case, information necessary
to determine what type of medical assessment and testing should be http:// www.missingkids.com/ .
obtained from other sources.
~ Ensure that the parent is not in the room for the history. Parents
may be present for the physical examination. -
~
tion of Sexual Abuse of Children—http://
me more …” as opposed to suggestive questions such as “Did pediatrics.aappublications.org/ content/ 103/ 1/ 186.full.
Daddy touch your private parts?”
~ Take careful notes and document with quotations whenever
possible. maltreatment. http:// www.guideline.gov/ content
.aspx?id=15523.
-
eration from the child by explaining all procedures and earning his
or her trust. child abuse and neglect—http:// www.childwelfare.gov/
systemwide/ laws_policies/ state/ can/ .
until STI tests are con rmed positive, as the incidence of STI in
asymptomatic prepubertal children is relatively low. REFERENCES
-
laxis. If HIV prevalence is high in local regions, assailant risk factors Child Maltreatment: 2008.
are unknown or high for HIV, and if the child is evaluated within Washington, DC: Government Printing Of ce; 2010.
72 hours of a high-risk exposure, then HIV prophylaxis may be
appropriate. Child Maltreatment 1998. Washington, DC: Government
Printing Of ce; 1999.
neglect.
sexual abuse. Future Child.
4. Summit R. Child sexual abuse accommodation syndrome.
FO LLO W-UP Child Abuse Negl.
study of anatomic changes resulting from sexual abuse. Am J Obstet

laws (see Child Welfare Information Gateway—http:// Gynecol.
www.childwelfare.gov/ ).
Child
local counseling agencies and to a Children’s Advocacy Center, or Abuse Negl.
other child abuse agency if available in the community. 7. Adams JA, Harper K, Knudson S, Revilla J. Examination ndings
in legally con rmed child sexual abuse: It’s normal to be normal.
Pediatrics.
PATIENT EDUCATIO N 8. Kellogg ND, Menard SW, Santos A. Genital anatomy in pregnant
adolescents: “normal” does not mean “nothing happened.”
At well-child visits, provider should discuss touches that make chil- Pediatrics.
dren sad, scared, or confused, or that give them an “uh-oh” feeling 9. Kellogg ND. The evaluation of sexual abuse in children. Pediatrics.
inside, and encourage parents to reinforce these themes at home.
PART 4
O PHTHALMO LO GY
St re ng t h o f
(SO R) De nit io n

PART 4
78 CHAPTER 10
O PHTHALMO LO GY
10 HO RDEO LUM AND

CHALAZIO N
He id i Chumle y, MD
PATIENT STO RY
A 5-year-old girl presented with a tender nodule on the lower eyelid

for 3 days (Figure 10-1). The clinician diagnosed an external horde-
olum (stye) and recommended that the mother apply warm moist
compresses to the affected eyelid 4 times a day. Her hordeolum
resolved within 7 days.
A
INTRO DUCTIO N
A hordeolum is an acute painful infection of the glands of the eyelid,

usually caused by bacteria. Hordeola can be located on the internal or
external eyelid. Internal hordeola that do not completely resolve
become cysts called chalazia. External hordeola are commonly known
as styes.
SYNO NYMS
Stye (external hordeolum).
EPIDEMIO LO GY
more common in school-age children. B
- FIGURE 10-1 A. Exte rnal hord e o lum on the lowe r e ye lid of a 5-ye ar-
lazion was found to be 0.2 percent and that of hordeolum was 0.3 old g irl. B. Close -up showing e ye lid swe lling . (Use d with p e rmission
percent. 1 from Richard P. Usatine , MD.)
ETIO LO GY AND PATHO PHYSIO LO GY
HO RDEO LUM (ACUTELY TENDER

NO DULE IN THE EYE)
resolves into a chalazion (Figure 10-1).
(Figures 10-2 and 10-3).

Staphylococcus aureus is the causative agent in most cases.
CHALAZIO N
blepharitis.
soft tissue of eyelid.

FIGURE 10-2 External hord eolum (b lack arrow) and an internal horde o-
Figure 10-4). lum (white arrow). (Used with p e rmission from Richard P. Usatine, MD.)
PART 4
HO RDEO LUM AND CHALAZIO N 79
O PHTHALMO LO GY
FIGURE 10-3 Exte rnal hord e olum with d isrup tion of the normal con- FIGURE 10-5 Chalazion p re se nt for 4 months on the up p e r e ye lid
tour of the e ye lid . (Use d with p e rmissio n from Richard P. Usatine , MD.) of a young g irl with minimal symp toms b ut cosme tically unap p e aling .
resolves into a chronic nodule (Figure 10-5). ~ Tenderness and erythema localized to a point on the eyelid
(Figures 10-1 to 10-3).
~
RISK FACTO RS ~ Fever, preauricular nodes, and vision changes should be absent.
~ Laboratory tests are generally not indicated.
S. aureus blepharitis, previous hordeolum.
DIAGNO SIS
MANAGEMENT
~ No studies of nonsurgical interventions (compresses, lid scrubs,
study. No evidence for or against nonsurgical interventions for

acute internal hordeolum. 1 SO R
~ Treat as described in the following section for external
hordeolum.
~ -
age in most cases. SO R
~ Topical antibiotics (e.g., bacitracin ophthalmic ointment) may be
bene cial for recurrent or spontaneously draining hordeolum.
SO R
~
painful and swollen may be incised and drained with a small inci-
FIGURE 10-4 Chalazion vie we d from inte rnal e ye lid showing the or external eyelid depending on where the hordeolum is point-
ye llow lip og ranulomatous mate rial. (Use d with p e rmission from ing. A chalazion clamp can be used to protect the globe from
Richard P. Usatine , MD.)
damage. SO R
PART 4
80 CHAPTER 10
O PHTHALMO LO GY
~ Antibiotics do not provide bene t after incision and

drainage. 3 SO R
~ Systemic antibiotics are usually not needed unless patient has
preseptal cellulitis. SO R
~ -
may take weeks to months to work. SO R

~ One study demonstrated a 58 percent response rate of 1 percent
topical chloramphenicol with warm compresses. 3 SO R
~ Higher percentages of resolution can be achieved with either
-
4–6 SO R
The chalazion is
usually drained from the internal eyelid using a chalazion clamp
to protect the globe. After anesthetizing the area, a # 11 blade is
carefully used to open the chalazion. A chalazion curette helps to
scoop out the lipogranulomatous material. No suturing is FIGURE 10-6 Chalazion in a 14-ye ar-old g irl. This e ye lid swe lling had
needed. b e e n the re for one ye ar at the time of p re se ntation. She had no p ain
~
b ut was unhap p y with the ap p e arance . (Use d with p e rmission from
and curettage, and warm compresses, and found resolution rates
of 84 percent, 87 percent, and 46 percent, respectively. 6 SOR
~ One study demonstrated a better response to incision and curet- PATIENT EDUCATIO N
Hordeolum commonly responds to warm soaks and topical antibiot-

5 SO R
ics. It often recurs and can develop into a chronic chalazion, which
REFERRAL
- PATIENT RESO URCES
ing with vision and not responding to therapy. If a surgical interven- http:// www
tion is needed and you lack experience doing such a procedure, refer .geteyesmart.org/ eyesmart/ diseases/ chalazion-stye/
index.cfm.
raises a concern for ocular rosacea and should prompt a referral to
-
www.familydoctor.org/
familydoctor/ en/ diseases-conditions/ sty.html.
PREVENTIO N
Eyelid hygiene (keeping the area around the eyelid clean) may Hordeolum and Stye in Emergency Medicine—
prevent hordeola. www.emedicine.medscape.com/ article/ 798940.
Chalazion http:// emedicine.medscape.com/
article/ 1212709.
PRO GNO SIS Chalazion Injection Demonstration www.youtube.com/
watch?v=yYCCkDZwKgg.
Figure 10-6). Some
patients are prone to recurrence of hordeola and chalazia. Chalazion Incision and Curettage www.youtube.com/
watch?v=tdKw_zjYCf8.
FO LLO W-UP
REFERENCES
A hordeolum with signi cant purulence and swelling should be
biomicroscopic ndings in the anterior segment and ocular adnexa
compresses are slow to work for a chalazion, so follow-up should be Arq Bras Oftalmol.
no sooner than 1 month if nonsurgical treatment is prescribed.
PART 4
HO RDEO LUM AND CHALAZIO N 81
O PHTHALMO LO GY
-
nal hordeolum. Cochrane Database Syst Rev.
J Coll Physicians Surg Pak.
antibiotic ophthalmic solution in the treatment of hordeolum after
-
pilot study. J Med AssocThai.
compresses. Clin Experiment Ophthalmol.
-
ment of chalazion. Hong Kong Med J. in chalazia. Orbit.
PART 4
82 CHAPTER 11
O PHTHALMO LO GY
11 CO RNEAL FO REIGN BO DY EPIDEMIO LO GY

AND CO RNEAL ABRASIO N -
He id i Chumle y, MD ever, the prevalence or incidence of corneal abrasion in the general
Ke lly Gre e n, MD pediatric population is unknown.
presenting to an emergency room. 1

PATIENT STO RY
An 8-year-old boy was poked in the eye with a small branch while
hiking with his cub scout pack. He presented with pain, tearing, pho-
-
tophobia, and a foreign body sensation. Fluorescein application dem-
rier protection, lters UV light, and refracts light onto the retina.
onstrated a green area under cobalt-blue ltered light (Figure 11-1).
Careful inspection with magni cation, including eversion of the
upper eyelid, revealed no foreign body. He was treated with antibi- foreign body, resulting in an in ammatory reaction.
otic eye drops. He showed improvement the next day and over time
had complete resolution.
the corneal abrasion heals more rapidly than in adults.
INTRO DUCTIO N
RISK FACTO RS
Corneal abrasions are often the result of eye trauma and can cause
an in ammatory response and signi cant pain. Corneal abrasions
are detected using uorescein and a UV light. A corneal foreign raises the risk of corneal abrasions from ocular trauma. 2
body can be seen during a careful physical examination with a
good light source or slit lamp. Nonpenetrating foreign bodies sedated patients (as a result of disruption of the blink re ex, and sub-
2
can be removed by an experienced physician in the of ce using
topical anesthesia. Refer all penetrating foreign bodies to an
Contact lenses, especially soft extended wear, increase the risk of
ophthalmologist.
developing an infected abrasion that ulcerates. 2 Any contact lens
wearer with a corneal abrasion should see an ophthalmologist, due to
the high risk of permanent vision loss due to infection.
SYNO NYMS
Corneal abrasion is sometimes referred to as a corneal epithelial

defect.
DIAGNO SIS
CLINICAL FEATURES
History and p hysical
-
sions can occur with no trauma history and young children may not
accurately report trauma).
sensation.
the disruption in the corneal epithelium) under cobalt-blue ltered

light (Figure 11-1).
LABO RATO RY TESTING

FIGURE 11-1 Fluore sce in stains g re e n, ind icating corne al ab rasion.
(Use d with p e rmission from Paul D. Come au.) ulcer) is suspected.
PART 4
CO RNEAL FO REIGN BO DY AND CO RNEAL ABRASIO N 83
O PHTHALMO LO GY
FIGURE 11-3 Me tallic fore ig n b od y with rust ring within the corne al
stroma and conjunctival inje ction. (Use d with p e rmission from
Paul D. Come au.)

A
loss depending on the location of ulceration (Figures 11-4 and 11-5).
-
-
MANAGEMENT
B
FIGURE 11-2 A. Wood chip is visib le in the corne a on close insp e c- NO NPHARMACO LO GIC
tion of the e ye . B. Slit-lamp e xamination re ve als this wood chip has
p e ne trate d the corne a. (Use d with p e rmission from Paul D. Come au.)
no foreign body is readily visible (see Figure 11-4).
IMAGING
-
fully perforated the cornea has passed through the cornea and will be
located in the anterior segment or posterior segment of the eye,
proceed with imaging. On exam, it is important to note apparent
which could lead to intraocular foreign body, consider imaging.
~ A metallic foreign body can be seen on an orbital radiograph. Avoid

-
FIGURE 11-4 Small corne al ulce r in the visual axis. (Use d with
intraocular foreign bodies and may be useful in some cases. p e rmission from Paul D. Come au.)
PART 4
84 CHAPTER 11
O PHTHALMO LO GY
PRO GNO SIS
worsens prognosis.
FO LLO W-UP
not hesitate to refer to ophthalmology if the patient is not improving.
PATIENT EDUCATIO N
-
FIGURE 11-5 Larg e corne al scar from p re vious ulce rations se cond ary
to contact le ns use . The scar ob scure s the visual axis and this young
p atie nt is awaiting a corne al transp lant. (Use d with p e rmission from
Richard P. Usatine , MD.) within 2 to 3 days, and they should report persistent pain, redness,
and photophobia.
the cornea has been penetrated (see Figure 11-2). Note that for- labeled “extended wear.”
and must be removed, lest they continue to abrade the cornea.

PATIENT RESO URCES
Apply a topical anesthetic, such as proparacaine or tetracaine. Corneal Abrasions
Remove with irrigation, a wet cotton-tipped applicator, or a ne- http:// familydoctor.org/ familydoctor/ en/ prevention-
gauge needle at the slit lamp. wellness/ staying-healthy/ rst-aid/ corneal-abrasions
3 SO R .html.
not help. 4 SO R PRO VIDER RESO URCES

Corneal Foreign Body Removal http:// emedicine
MEDICATIO NS .medscape.com/ article/ 82717.
5,6 SOR
While the evidence for this intervention of pain relief is relatively good,
there are some risks to their use and these medications can be costly.
REFERENCES
SOR Chloramphenicol ointment
reduced the risk of recurrent ulcer in a prospective, non-placebo, con- Ann Emerg Med
trolled trial.7 Am Fam
ophthalmic antibiotics, such as erythromycin ointment, are used for Physician.
corneal abrasions. SOR While there is an epithelial defect, there is
3. Weissman BA. Care of the Contact Lens Patient: Reference Guide for
-
Clinicians
be treated with lubrication with arti cial tears and over-the-counter Cochrane Data-
ophthalmic ointments until the abrasion heals. base Syst Rev.
REFERRAL drugs for corneal abrasions in children. Can Fam Physician.
PREVENTIO N Acad Emerg Med.
-
ational activities. of corneal ulceration in Nepal. Br J Ophthalmol.
PART 4
CO NJUNCTIVITIS 85
O PHTHALMO LO GY
12 CO NJUNCTIVITIS and 13 percent of cases occurring in children ages 0 to 2, 3 to 9,

and 10 to 19, respectively. 1
Ke lly Gre e n, MD of 6.4 percent and a lifetime prevalence of 40 percent in a large
2
PATIENT STO RY
A 4-year-old boy woke up with one eye matted shut. The child’s parents
cleared the matted material with a warm washcloth and brought the child Conjunctivitis is predominately infectious (bacterial or viral) or allergic,
into the doctor’s of ce. The child indicates discomfort but not pain. The and the most common etiologies vary by age.
child and the parents believe the child’s vision is ne. On examination, Chlamydia trachomatis and
the child is afebrile with conjunctival injection, lid swelling and purulent Neisseria gonorrhoeae. 3
discharge in the left eye (Figure 12-1). Vision testing is normal. Based
on the age of the child and the purulence of the discharge, bacterial
conjunctivitis was diagnosed and antibiotic drops were prescribed. causes are Haemophilus species and Streptococcus pneumoniae account-
ing for almost 90 percent of cases in children. 4,5
INTRO DUCTIO N
causes for conjunctivitis.4 Adenovirus is the most common viral cause.
Conjunctivitis, in ammation of the membrane lining the eyelids and
globe, presents with injected pink or red eye(s), eye discharge rang-
ing from mild to purulent, eye discomfort or gritty sensation, and no DIAGNO SIS
vision loss. Conjunctivitis is most commonly infectious (viral or bac-
terial) or allergic, but can be caused by irritants. Diagnosis is clinical,
based on differences in symptoms and signs. pain and check for vision loss. Patients with a red eye and intense pain
or vision loss that does not clear with blinking are unlikely to have
SYNO NYMS conjunctivitis and should undergo further evaluation.
Pink eye. all types of conjunctivitis, including bacterial conjunctivitis. Any

patient who uses contact lenses should remove the lenses from
EPIDEMIO LO GY both eyes in the event of any sort of red eye complaint. The patient
should see an ophthalmologist.
making the prevalence dif cult to estimate. eye discharge, gritty or uncomfortable feeling, one or both pink
eyes, and no vision loss. The infection usually starts in one eye,
and progresses to involve the other eye days later.
conjunctivitis is 135 per 10,000 people, with 23 percent, 28 percent
discharge (Figure 12-2).

Figures 12-1, 12-3, and 12-4) has a more
purulent discharge than viral or allergic conjunctivitis.
room, with a history of gluey or sticky eyelids and a purulent dis-

charge noted on physical examination had bacterial conjunctivitis. 5
itching. Giant papillary conjunctivitis is a type of allergic reaction,

most commonly seen in patients who wear soft contact lenses
(Figure 12-5).
Detector) has a sensitivity of 88 percent and a speci city of 91 per-

cent compared to viral cell culture with con rmatory immuno uo-
rescence staining. 6
FIGURE 12-1 Unilate ral conjunctivitis in a 4-ye ar-old child . The child ’s
ag e and p urule nt d ischarg e are consiste nt with a b acte rial e tiolog y. and is usually diagnosed based on history and physical examination,
(Use d with p e rmission from Richard P. Usatine , MD.) the test is rarely performed.
PART 4
86 CHAPTER 12
O PHTHALMO LO GY
FIGURE 12-2 Viral conjunctivitis d e monstrating b ilate ral conjunctival

inje ction with little d ischarg e . (Use d with p e rmissio n from Richard P.
Usatine , MD.)
FIGURE 12-5 Giant p ap illary conjunctivitis in a contact le ns we are r.

(Use d with p e rmission from Mike Johnson, MD.)
excess tearing. Erythema and in ammation may be present at the

nasal and inferior lid. The obstruction may occasionally lead to the
development of infectious conjunctivitis (see also Chapter 14,
often with miosis (constriction of pupil), eye discharge, pain,

photophobia, and vision loss depending on the location of
ulceration. Herpes keratitis is a diagnosis that should not be
missed (Figures 12-6 and 12-7). The use of fluorescein and a
FIGURE 12-3 Bacte rial conjunctivitis with visib le d ischarg e on the damage and prompt an emergent referral to an ophthalmologist
late ral e ye lid s. The conjunctivitis was b ilate ral. (Use d with p e rmission (Figure 12-7). Contact lens wearers should urgently see an
from Richard P. Usatine , MD.)
ophthalmologist for keratitis.
-
lodged with conservative measures, or appears to be superinfected
FIGURE 12-4 Gonococcus conjunctivitis has a cop ious d ischarg e . This

se ve re case re sulte d in p artial b lind ne ss. (Use d with p e rmission from FIGURE 12-6 He rp e tic ke ratitis in a woman staying in a she lte r afte r
Dise ase Control and Pre ve ntion [CDC].) Hurricane Katrina. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 4
CO NJUNCTIVITIS 87
O PHTHALMO LO GY
FIGURE 12-7 Slit-lamp vie w of a d e nd ritic ulce r with uore sce in up take FIGURE 12-9 Trachoma showing many white follicle s on the und e rsid e
of the up p e r e ye lid . (Use d with p e rmission from Richard P. Usatine , MD.)
from he rp e tic ke ratitis. (Use d with p e rmission from Paul D. Come au.)
with ulceration or leukocyte in ltrate, prompt referral to an oph-

thalmologist is required (Figure 12-8). MANAGEMENT
-
4
C. trachomatis that is rare in

~ Azithromycin 1.5 percent ophthalmic solution twice daily for 3
days resulted in a clinical and microbiologic cure in more than
80 percent of children. 7,8 SOR This dosing regimen provides
and poor hygiene are major risk factors. Once the eye is infected, equivalent ef cacy to 4 times a day dosing of tobramycin.7,8 SOR
follicles can be seen on the upper tarsal conjunctiva upon eyelid
~ A combination of polymixin B and trimethoprim (Polytrim) is effec-
eversion (Figure 12-9 tive and widely used for the treatment of bacterial conjunctivitis.
leads to entropion, which causes corneal scarring and ultimately
~ Erythromycin can also be used for bacterial conjunctivitis although
blindness. its utility may be limited by resistance of Haemophilus and Moraxella
- species.
tivitis that is more common in the summer (not the spring). The
term vernal refers to the spring time, and therefore it is now treated for bacterial conjunctivitis.
referred to as “warm weather conjunctivitis” rather than “spring
catarrh.” Giant papillae that look like a cobblestone pattern may be show that more than 80 percent of patients show improvements
- with 0.3 percent cipro oxacin, tobramycin, nor oxacin, or genta-
cally ceases to recur seasonally with age. micin, and 0.6 percent besi oxacin. 9–12
-
quinolone that has been shown to be effective for the treatment of
bacterial conjunctivitis. 13–15
well tolerated by children. 15
over age 1 year. The dosing is 1 drop in the affected eye(s) three
times daily for one week. SO R
effective against gram negative infections but not generally effective

against streptococci.
stabilizers, nonsteroidal antiin ammatory agents, corticosteroids (only if

under the care of an ophthalmologist), and immunomodulatory agents.16
REFERRAL
(this could represent gonococcal disease, which must be cultured,

FIGURE 12-8 Conjunctivitis cause d b y a fore ig n b od y in the e ye . The and which can cause vision loss), severe pain, lack of response to
g round me tal sp e ck is se e n on the corne a, and the corne al in ltrate ,
along with a p urule nt d ischarg e , ind icate a b acte rial sup e rinfe ction. therapy, or a history of herpes simplex or zoster eye disease to an
PART 4
88 CHAPTER 12
O PHTHALMO LO GY
discharge, one should consider the possibility of sexual abuse. REFERENCES

Obtain cultures immediately.
- BMCOphthalmol.
mologist. There is a severe risk for complications (elevated eye pres- 2009;9:13.
sure, cataract, and corneal perforation) with the use of ocular steroids.
JAllergy Clin Immunol.
PREVENTIO N 2010;126(4):778-783.
Good hygiene practices with washing of the hands and face with soap conjunctivitis in children. J Pediatr. 1981;98(4):531-536.
and water.
bacterial conjunctivitis. Arch Pediatr Adolesc Med. 2010;124:263-267.
FO LLO W-UP/ RETURN TO SCHO O L
bacterial conjunctivitis in children. Acad Emerg Med. 2007;14(1):1-5.
3 to 5 days. for diagnosing adenoviral conjunctivitis. Ophthalmology. 2006;

113(10):1758-1764.
conjunctivitis can return to school. A literature-based review sug-
gests the best strategy is excluding children from school until they
are asymptomatic. 17 bacterial conjunctivitis in pediatric patients. Pediatr Infect Dis J.
2010;29(3):222-226.
PATIENT EDUCATIO N
-
of conjunctivitis, except those with a history of gluey eyes and a multicentre, randomized and controlled trial in adults and children.
purulent discharge seen on physical examination. Br J Ophthalmol. 2007;91(4):465-469.
-
cin and tobramycin in bacterial conjunctivitis in children. Clin Pe-
immediately afterwards. diatr (Phila). 1997;36(8):435-444.
-
oxacin compared with topically administered gentamicin for the treat-
-
pain or vision loss. AmJOphthalmol. 1992;113(6):638-644.
-
PATIENT RESO URCES
Conjunctivitis www.ncbi.nlm.nih.gov/ treatment of bacterial conjunctivitis in adults and children. Clin
pubmedhealth/ PMH0002005/ . Drug Investig. 2012;32(5):303-317.
www.aao.org. of levo oxacin administered three times a day for the treatment of
Conjunctivitis: What Is bacterial conjunctivitis. Eur J Ophthalmol. 2009;19(1):1-9.
Pink Eye? www.geteyesmart.org/ eyesmart/ diseases/
conjunctivitis.cfm. randomized clinical trial comparing polymyxin B-trimethoprim
- and moxi oxacin for treatment of acute conjunctivitis in children.
www.cdc.gov. J Pediatr. 2013 Apr;162(4):857-861.
Conjunctivitis
(Pink Eye) www.cdc.gov/ conjunctivitis/ index.html. conjunctivitis. Drugs. 2011;71(1):89-99.
YouTube. Conjunctivitis Health Byte www.youtube.com/ topical moxi oxacin, a new antibacterial in Europe, in the treatment
watch?v=O8LkDfbLCaY; and A Healthy Byte: Pink Eye www. of bacterial conjunctivitis. Clin Drug Investig. 2011;31(8):543-557.
youtube.com/ watch?v=Hp28hS7XYCo& feature=relmfu.
emerging therapeutics in the treatment of allergic conjunctivitis.
PRO VIDER RESO URCES Recent Pat In ammAllergy Drug Discov. 2011;5(1):26-36.
Conjunctivitis
www.guidelines.gov/ content.aspx?id= school: policies of state departments of health. J Pediatr Ophthalmol
13501. Strabismus. 2007;44(2):101-105.
PART 4
UVEITIS AND IRITIS 89
O PHTHALMO LO GY
13 UVEITIS AND IRITIS EPIDEMIO LO GY

1
PATIENT STO RY
uveitis as seen in primary care settings. 1
A 16-year-old boy presents with sudden onset of a red right eye,
severe eye pain, tearing, photophobia, and decreased vision. He
juvenile idiopathic arthritis.
denies eye trauma. His review of systems is positive for knee and
ankle pain over the previous 6 months. On examination, he has a
ciliary ush (Figure 13-1) and decreased vision. He is referred to an blindness. 3
ophthalmologist who con rms the diagnosis of acute anterior uveitis.
He is also referred to a pediatric rheumatologist who makes the diag-
nosis of juvenile onset spondyloarthritis. His uveitis is treated with ETIO LO GY AND PATHO PHYSIO LO GY
topical steroids.
arthritis, but can also be caused by trauma, infections, in ammation,

or, rarely, neoplasms. Most likely causes differ by location.
INTRO DUCTIO N
Uveitis is in ammation of any component of the uveal tract: iris arthritis, and trauma are more common (Figure 13-2). Infection,
(anterior), ciliary body (intermediate), or choroid (posterior). Most malignancy and idiopathic causes are less common. Infections
uveitis is anterior and is also called iritis. Uveitis is caused by trauma, include herpes, syphilis, and tuberculosis.
in ammation, or infection and the most common etiologies vary by (Figure 13-3).
location in the uveal tract. Patients present with vision changes and, if
uveitis is anterior, eye pain, redness, tearing, and photophobia. All rubella, cytomegalovirus, herpes simplex virus, and syphilis) are
patients with uveitis should be referred to an ophthalmologist. common causes. In toddlers, Toxocara canis or Toxocara cati
acquired from ingestion of contaminated soil can cause a unilateral
posterior uveitis. Cytomegalovirus is the most common in immu-
SYNO NYMS nocompromised children. It may also be autoimmune, trauma,
malignancy or idiopathic.
Anterior uveitis includes iritis and iridocyclitis. Iritis is when the
in ammation is limited to the iris. If the ciliary body is involved too, Unilateral panuveitis is often endo-
then it is called iridocyclitis. Posterior uveitis includes choroiditis and phthalmitis (endogenous or related to trauma or surgery). Bilateral
chorioretinitis. panuveitis can be caused by sarcoidosis or syphilis.
FIGURE 13-1 Acute ante rior uve itis with corne al e nd othe lial white ce ll
ag g re g ate s (b lack arrow) and p oste rior syne chiae formatio n (iris ad he - FIGURE 13-2 Traumatic iritis (ante rior uve itis) afte r b e ing hit in the
sions to the le ns, white arrows). (Use d with p e rmission from Paul D. e ye with a b ase b all. He has p hotop hob ia and e ye p ain. (Use d with
Come au.) p e rmission from Richard P. Usatine , MD.)
PART 4
90 CHAPTER 13
O PHTHALMO LO GY
FIGURE 13-3 Id iop athic inte rme d iate uve itis. The ciliary ush is p e ri- FIGURE 13-4 Hyp op yon with se ve re ante rior uve itis, showing laye ring
limb al inje ction from d ilation of b lood ve sse ls ad jace nt to the corne a, of le ukocyte s and b rinous d e b ris in the ante rior chamb e r. May b e
e xte nd ing 3 mm into the scle ra. Pe rilimb al inje ction may ap p e ar as a ste rile or infe ctious. An inte nse ciliary ush is se e n. Most commonly
viole t hue around the limb us with b lurring of ind ivid ual ve sse ls. (Use d se e n in HLA-B27-p ositive p atie nts with uve itis. Hyp op yon may also b e
with p e rmission from Paul D. Come au.) a p re se nting sig n of malig nancy (re tinob lastoma and lymp homa). (Use d
with p e rmission from Paul D. Come au.)
RISK FACTO RS Typical distribution

Patients with Behçet disease and ankylosing spondylitis have uveitis
bilateral.
because of human leukocyte antigen (HLA) associations. Congenital
infections and immunode ciency raise the risk of infectious uveitis.
DIAGNO SIS Causes of red eye, other than uveitis:
CLINICAL FEATURES
purple, or blue color); severe, boring eye pain often radiating to
Anterior acute uveitis presents with: head and neck; and photophobia and vision loss.
decreased vision. color), mild or no discomfort but can be tender to palpation, and
no vision disturbance.
limbus (Figures 13-1, 13-2, and 13-4).
injection often with constricted pupil; eye discharge; and pain,
factors for infection. photophobia, and vision loss depending on the location of ulcer-
- -
kocytes and brous debris in the anterior chamber (Figure 13-4).
evaluation by an ophthalmologist. There will be staining of the
noninfectious causes of hypopyon. cornea with uorescein.
Intermediate and posterior uveitis: -

junctivitis). Recent history of red eye contacts or URI symptoms.
MANAGEMENT
Refer patients for any red eye along with loss of vision to an ophthal-
mologist. Patients with uveitis warrant additional examinations by the
ophthalmologist.
keratic precipitates, posterior iris synechiae). 6 measurement of intraocular pressure, gonioscopy to evaluate for
PART 4
UVEITIS AND IRITIS 91
O PHTHALMO LO GY
FO LLO W-UP
Appropriate follow-up is based on the underlying cause.
PATIENT EDUCATIO N
uveitis; however, the underlying cause is often elusive.
PATIENT RESO URCES

http:// www.ncbi.nlm.nih.gov/ pubmedhealth/
PMH0002000/ .
FIGURE 13-5 This p atie nt with uve itis had p oste rior syne chiae that are
attachme nts of the iris to the ante rior cap sule of the le ns. The rap e utic
d ilation b roke the syne chiae , b ut le ft re sid ual p ig me nt on the ante rior PRO VIDER RESO URCES
cap sule . (Use d with p e rmission from Paul D. Come au.)
http:// emedicine.medscape.com/ article/ 798323.
angle recession and risk for future glaucoma, and treatment may
include steroid and/ or cycloplegics for comfort. REFERENCES
Int Ophthalmol
to assist with diagnosis of underlying cause; treatment is based on Clin.
underlying cause but is usually topical steroid drops with or with-
out cycloplegia. associated uveitis. Curr Opin Ophthalmol.
-
can occur (Figure 13-5).
Ophthalmology.
PRO GNO SIS
Neurologist.
Uveitis causes vision loss, cataract, and often glaucoma if treatment is
- J Clin Invest.
ogy for anterior uveitis, and is associated with recurrent, bilateral 6. Uyama M. Uveitis in sarcoidosis. Int Ophthalmol Clin.
anterior uveitis.
PART 4
92 CHAPTER 14
O PHTHALMO LO GY
14 NEO NATAL
NASO LACRIMAL DUCT
O BSTRUCTIO N
And re as Marcotty, MD
PATIENT STO RY
A 6-month-old child is brought to the pediatrician with a history of tear-

ing, drainage, crusting of the eyelashes and lids, perhaps of both eyes and
most notably upon awakening. The tearing occurs without distress and is
worse with outside air exposure, especially if it is cold and windy. There
is no associated fever or discomfort. Despite the increase in tearing,
there is no light sensitivity.1 Most notable is the chronically increased FIGURE 14-1 Nasolacrimal Duct O b struction with an incre ase d te ar
tear lm meniscus (Figure 14-1). The baby has a chronic problem since lm and no e vid e nce of infe ction (conjunctival inje ction, p urule nt
shortly after birth with constant tearing, mucoid debris and a couple of d e b ris). (Use d with p e rmission from And re as Marcotty, MD.)
episodes of increased debris, suggestive of conjunctivitis.
Examination demonstrates no photophobia by penlight or indication SYNO NYMS
of pain. There is mild erythema to the lower lids. Notable is the increased
tear lake bilaterally, dried mucous on the skin and mucoid debris in the Dacrocystitis is when the NLDO is infected. Epiphora is the over ow
tear lm. The eyes show no conjunctival injection or in ammation. There of tears.
is a normal and symmetrical red re ex by ophthalmoscopy. Fluorescein
dye disappearance test demonstrates prolonged retention of the dye in
the tear lm of each eye longer than 5 minutes.2,3 Massage of the tear sac EPIDEMIO LO GY
can result in expression of copious amount of mucopurulent material
but did not in this case. The child was diagnosed with neonatal nasolacri- -
mal duct obstruction (NLDO).
without surgical therapy. 4
INTRO DUCTIO N
blockage can be unilateral or bilateral.
Neonatal nasolacrimal duct obstruction (NLDO) presents with the par- 5–
ents stating that the eye is always crying. The eye remains wet leading
to debris and crusting. NLDO may look like infectious conjunctivitis
and occasionally leads to the development of true conjunctivitis. age of surgical intervention (Table 14-1).
TABLE 14-1 Natural Prog re ssion

Natural pro gofreNasolacrimal Duct
s s io n o f nas O brimal
o lac struction
duc t o bs truc tio n
Ne w ca s e s Ca s e s re s olve d Tota l ca s e s re ma ining
1200
1000
s
800
e
s
a
c
f
o
600
r
e
b
m
400
u
N
200
0
0 1 2 3 4 9 13 17 21 25 29 34 39 43 48 52
Age , in we e ks
Data ad ap te d from: MacEwe n CJ and Young DH: Ep ip hora During the First Ye ar of
Life . Eye . 1991;5:596-600.
PART 4
NEO NATAL NASO LACRIMAL DUCT O BSTRUCTIO N 93
O PHTHALMO LO GY
FIGURE 14-2 Dacryo cystitis with p rob ab le d acryocystoce le . The re is

e rythe ma of skin, fullne ss to lowe r lid and an incre ase d te ar lm. (Use d
with p e rmission from And re as Marcotty, MD.) FIGURE 14-3 Mid line craniofacial ab no rmality with se cond ary te ar
d uct ab normalitie s. The re is an ab normal me d ial canthus of the rig ht
e ye and a cle ft invo lving the nasal b o ne to the rig ht nare s. (Use d with
p e rmission from And re as Marcotty, MD.)
ETIO LO GY
- PHYSICAL EXAMINATIO N
-
-
the valve of Hasner beneath the inferior turbinate of the nose. mation at the nasal and inferior lid.
skin temporally (Figure 14-4).

with the infection Dacryocystitis (Figure 14-2).
(Figure 14-5).
~ May also have a cystic lesion present upon nasal endoscopy
(Figure 14-6).
~
RISK FACTO RS
NLDO is associated with craniofacial abnormalities and syndromes
syndrome, Nager syndrome, frontonasal dysplasia, branchio-
–11
syndrome (Figure 14-3).
DIAGNO SIS
HISTO RY
FIGURE 14-4 Acute d acryocystitis. Note the e rythema of the skin that is
not localized , tearing and mucop urulent d e b ris. (Use d with permission
from Andreas Marcotty, MD.)
PART 4
94 CHAPTER 14
O PHTHALMO LO GY
FIGURE 14-5 Bilate ral d acryocystoce le s d e mo nstrating b lue ish d iscol-

oration of the skin at the me d ial canthus, as we ll as cystic swe lling of
the nasal asp e ct to b oth lowe r lid s. (Use d with p e rmission from Elias
Trab oulsi, MD.)
FIGURE 14-7 Congenital epiblepharon typi ed by in-turned upper and
lower lid lashes, with corneal and conjunctival touch. Photograph taken
during slit-lamp exam. (Used with permission from Andreas Marcotty, MD.)
TESTING
3,4
Using a uorescein strip, stain the
tears (in the cul-de-sac of the eyelid) with a small amount of uo- inward, causing them to rub on the cornea and conjunctiva.
rescein, dab the excess, and wait 5 minutes. Using aWoods lamp or This creates a foreign body sensation and secondary tearing
ultraviolet light, illuminate the eyes and lids, looking for the green (Figure 14-7).
uorescence. -
~ A negative test will reveal little to no residual dye uorescence. lemm’s canal and the trabecular meshwork resulting in decreased
~ A positive test will show an increased tear lake with green uo-
out ow from the anterior chamber and the secondary increase of
rescence.
(Figure 14-8
IMAGING epiphora, photophobia (Figure 14-9
and buphthalmos also known as enlarged eye.
an enlarged tear sac/ duct on the orbital views and additional struc- ~
tural changes involving the nasal bone. the out ow to be obstructed. Associated with autosomal
inherited.
DIFFERENTIAL DIAGNO SIS ~ -
ties such as aniridia (absence of the iris) or systemic disorders
leading to the congenital glaucoma.
insertion of muscle bers of the lower or upper lid resulting
in a fold of skin which presses against the lashes, rolling them Figure 14-10).
FIGURE 14-8 Cong e nital g laucoma with e p ip hora. Note the asym-
FIGURE 14-6 Intranasal cyst found with a d acryocystoce le using me trically e nlarg e d corne as, e p ip hora, and ab se nce of corne al e d e ma.
e nd oscop y. (Use d with p e rmission from Paul Krakovitz, MD.) (Use d with p e rmission from And re as Marcotty, MD.)
PART 4
O PHTHALMO LO GY
FIGURE 14-9 Cong e nital Glauco ma with e p ip ho ra and p ho to p ho b ia.

No te the he ad d o wn p o sture , e p ip ho ra and e nlarg e d co rne as with
uore sce in staining o f te ars. (Use d with p e rmissio n fro m And re as
Marcotty, MD.) FIGURE 14-11 Ence p halotrig e minal he mang iomatosis is also calle d
Sturg e -We b e r d ise ase whe n the re are ne urolog ical ab normalitie s
accomp anying the vascular malformation. Note the “Port Wine stain”
on the face with lid involve me nt and scle ral inje ction, b ut no g lauco-
matous chang e s. Glaucoma can occur at b irth with this d ise ase . (Use d
with p e rmission from And re as Marcotty, MD.)
cause congenital glaucoma. One neurocutaneous disorder is known

Figure 14-11).
(Figure 14-12).
Figure 14-13
FIGURE 14-12 Ste rile corne al ulce r in Familial Dysautonomia with a

ce ntral e p ithe lial d e fe ct and raise d e d g e s. (Use d with p e rmission from
And re as Marcotty, MD.)
FIGURE 14-10 Pe te r’s Anomaly showing op aci cation of the corne a. FIGURE 14-13 Corneal ab rasion stained with uorescein and illuminated
This may b e associate d with g laucoma. (Use d with p e rmission from with a Wood’s lamp (ultraviolet light). (Used with permission from Andreas
And re as Marcotty, MD.) Marcotty, MD.)
PART 4
96 CHAPTER 14
O PHTHALMO LO GY
MANAGEMENT be repeat probing, placing a stent, or performing a balloon catheter

dilation. Early stenting was performed using a silicone tube looped
ANTIBIO TICS O NLY WHEN NEEDED through both the upper and lower canalicular systems with the ends
knotted and secured in the nasal cavity.
obstruction of the out ow system versus an insult to the eye with
secondary tearing must be made. This differentiation is critical in Monoka™ stent, decreasing the risk of trauma to both punta and
the successful management of tearing and to the health of the visual canaliculi if the tube becomes dislodged.
system and child. Occasionally, there may an infectious component
-
in NLDO.
tion and a stent. An in atable stent is passed into the nasolacrimal
duct and lled with a saline solution, enlarging the canal with rupture
chance of infection with Haemophilus in uenzae, Staphylococcus
aureus, or Moraxella catarrhalis dilation has also been performed as a primary treatment with an
the organisms isolated have been reported to be coagulase-negative SOR
12
α
- -
ni cant infection.
is as successful as the placement of any type of temporary indwelling
be prescribed. Antibiotics that have the appropriate therapeutic tube, into the lacrimal system to create permanent patency.
-
- -
oxacin, O oxacin, Levo oxacin), and Gentamicin. tive to the natural anatomy of the system and therefore the nal option.
MASSAGE
PRO GNO SIS
complication is primarily one of observation, with massage.
13
The natural history of resolution and the success of surgery by age
and
14
5, ,15, SO R
in the superior nasal corner of the orbit. The lacrimal sac and duct
then travel straight downward alongside the posterior and nasal FO LLO W-UP
edge of the caruncle of the medial canthus and into the lacrimal
bone, where it can no longer be massaged. -
lowed less closely as it is common and has a minor risk of complica-
MASSAGE TECHNIQ UE tion. Dacryocystitis is a more serious problem and close management
with appropriate antibiotics oral or intravenous therapy is needed.
The nger is then rolled downward and posteriorly against the frontal
and lacrimal bones, nishing the massage, when the lower edge of the to look for and manage an intranasal cyst.
orbit is felt.
PATIENT EDUCATIO N
SURGERY The most important educational information to provide to parents is
concerned, early therapy with in-of ce surgery can be undertaken,

with the variability re ecting the age of probing and the selection although not to the exclusion of tear duct massage.
bias of the surgeon or the complexity of the case. ,14–16 SOR
PATIENT RESO URCES
American Association for Pediatric Ophthalmology and Strabismus—
success after 13 months of age and others only after 36 months of http:// www.aapos.org/ terms/ conditions/ 72.
age. 15,16 SO R
// www
.childrenscolorado.org/ wellness/ info/ parents/ 21306
- .aspx.
sary for older children (older than 6 months).
PART 4
O PHTHALMO LO GY

Ophthalmol.
EyeWiki—http:/
_Nasolacrimal_Duct_Obstruction.
-
J AAPOS.
enced text on NLDO.
REFERENCES administration in the management of infant dacryocystitis. J AAPOS.
JAMA.
Arch
Dye Disappearance Test. Am J Ophthalmol. Ophthalmol.
J Pediatr Ophthalmol and Ophthalmol.

Strabismus.
Obstruction of the Nasolacrimal Duct. J Pediatr Ophthalmol and

Strabismus. Ophthalmol.
Life. Eye. Nasolacrimal. Duct Obstruction With Nonsurgical Management.

Arch Ophthalmol.
J Pediatr
Ophthalmol Strabismus.
JAAPOS.
Duct. Arch Ophthalmol.
-
Arch
Ophthalmol
Arch Ophthalmol.
Ophthalmol.
PART 4
98 CHAPTER 15
O PHTHALMO LO GY
15 STRABISMUS AND
PSEUDO STRABISMUS
Paul J. Rychwalski, MD
PATIENT STO RY
A 5-month-old infant is brought to your of ce by her mother. The A

mother reports that the child has a “lazy eye.” On further inquiry, the
mother describes a 1-month history of the child’s eyes turning inward
toward the nose. This occurs intermittently and is not noticed by the
child’s father. The mother shows several photographs that are incon-
clusive. The infant’s maternal uncle had strabismus surgery as a child.
On examination, the infant protests when either eye is covered, and
seems to have an inward deviation of the right eye, more pronounced
when looking to the left (Figures 15-1A,B,C). The patient is able to
move the eyes easily in all directions.
INTRO DUCTIO N
B
Strabismus refers to any misalignment of the eyes. It can be further cat-

egorized based on the direction of the deviating eye(s): 1) esotropia—the
eye turns inward; 2) exotropia—the eye turns outward; 3) hyper- and
hypotropia—the eye turns upward or downward respectively; and 4)
cyclotropia or torsional—the eye is rotated clockwise or counterclock-
wise. Further, the terms used to describe strabismus also depend upon
the conditions under which it is present (constant or intermittent) and
whether it changes with the position of gaze (comitant or incomitant).
SYNO NYMS
Squint, lazy-eye, cross-eye, walleye, or crooked eye. C
FIGURE 15-1 A. Cong e nital or infantile e sotrop ia. De monstrate s

cross- xation with le ft e ye p re fe re nce . B. Infant tole rate s rig ht e ye
EPIDEMIO LO GY b lockag e . C. Infant up se t to have le ft e ye cove re d . (Use d with p e rmis-
sion from Paul J. Rychwalski, MD.)
- be lower in Asian populations. 1–3 Among Hispanic and Latino chil-

dren, prevalence is:
~ 2 percent at ages six to 11 months.
~ 2.6 percent at ages 36 to 47 months.

100,000 population of 64 in exotropia (corresponding to a preva-
~ 2.8 percent at ages 60 to 72 months.
lence of 1 percent of children aged <11 years), 111 in esotropia
(corresponding to a prevalence of 2 percent of children aged <6
years), and 12.9 in hypertropia (corresponding to a prevalence of ~ 1.1 percent at ages six to 11 months.
0.26 percent of children aged <19 years). ~ 1.9 percent at ages 36 to 47 months.
~ 3.9 percent at ages 60 to 72 months. 4
than 7 years, whereas the incidence of exotropia is highest in chil-
dren aged 6 to 9 years, and is also high in adolescents and adults ETIO LO GY AND PATHO PHYSIO LO GY
with sensory strabismus.
Proper alignment of the eyes is guaranteed by a normally functioning
disabilities (44.1%) compared with the general population. sensory and motor fusion mechanism. If either of these two systems is
The prevalence in white people is 2 percent to 4 percent, but may perturbed, strabismus may result.
PART 4
STRABISMUS AND PSEUDO STRABISMUS 99
O PHTHALMO LO GY
~ Penlight exam.
~ All the nervous impulses that reach the eyes. These factors I Look for ocular abnormalities of the cornea, iris or lens.
include the movements of extraocular muscles, psycho-optical ~ Red re ex test.
re exes (poorly understood fusional impulses), external in u- ~ Complete ophthalmologic examination including cycloplegic
ences on muscle tone (endolymph, vestibular system, possible refraction and dilated fundus examination.
re exes from neck muscles), and in uences of the several nuclear
and supranuclear areas that govern ocular motility.
CLINICAL FEATURES
~ Second, there are anatomical factors, which consist of orientation and
shape of the orbits; size and shape of the globes; volume of the retro- It is important to distinguish between congenital or infantile
bulbar tissue; functioning of the eye muscles as determined by their and acquired strabismus, as some forms of acquired strabismus
insertion, length, elasticity, and structure; and anatomical arrange- can be caused by a life-threatening or vision-threatening
ment of connective tissue, ligaments, and pulleys of the orbit.5 condition.
-
genital esotropia (Figure 15-1) and intermittent exotropia
RISK FACTO RS (Figure 15-2). These are usually comitant.
strabismus), head trauma with cranial nerve palsies or orbital
intracranial pressure due to intracranial hemorrhage, abscess,

encephalitis, shunt failure, and tumors (intracranial, intraocular, or
intraorbital).
DIAGNO SIS
The diagnosis is made with a careful history and physical examination

as outlined in the following sections.
~ Age of onset, especially during perinatal period.

~ Birth history.
~ Family history.
~ Associated illness or trauma, especially neurologic.
~ Associated signs including nystagmus, headache, ptosis, anisocoria.
~ Constant vs. intermittent.
~ Change of deviation based on direction or distance of xation. A
~ Head position—ocular torticollis may be induced by ocular

misalignment.
~
~ Corneal light re ex or Hirschburg test.

IThe projected light re ex will be centered on each eye if they
are aligned. In esotropia, the light on the inwardly deviated
eye will be displaced temporally and in exotropia it will be
displaced nasally.
~ Cover and cover/ uncover test.
ICover the apparently straight/ xating eye and observe the
fellow eye for a re xation movement.
IAn esotropic eye will have a re xation movement from nasal
to temporal in order to pick up xation and vice versa. B
~
FIGURE 15-2 A. Constant e xotrop ia of rig ht e ye . B. Exo trop ia surg i-
I Check eyes separately and together for ability to move cally corre cte d with b ilate ral late ral re ctus re ce ssion. (Use d with p e rmis-
completely. sion from Paul J. Rychwalski, MD.)
PART 4
100 CHAPTER 15
O PHTHALMO LO GY
~ Incomitance.
~ Craniofacial abnormalities.
Figure 15-6).
~ Prominent epicanthal folds.
~ Flat nasal bridge.
~
A
~
weeks of life; usual exotropic.
MANAGEMENT
~ Complete visual and ocular examination.

~ Reassurance.
~ Repeat examination in 4 to 6 months looking for true strabismus.
underlying the pseudostrabismus.
~ The treatment depends upon the etiology. The goal is to restore

B normal ocular alignment, preserve vision and binocular vision
and stereopsis.
FIGURE 15-3 A. Accommod ative e sotrop ia. B. Corre cte d with g lasse s.
(Use d with p e rmission from Paul J. Rychwalski, MD.)
NO NPHARMACO LO GIC
- of occlusion) if indicated. 6–8 SO R

tropia (Figure 15-3) due to high hyperopia or a high accommoda- SO R
tive convergence to accommodation (AC/ A) ratio, idiopathic
Figure 15-4), or dysinnerva-
MEDICATIO NS
-
SOR
cens nerve palsy.
nerve palsy (usually seen with ptosis and mydriasis on the ipsilateral amblyopia treatment (Atropine 1%). 6–9 SO R
CO MPLIMENTARY/ ALTERNATIVE THERAPY

oculomotor nerve paresis, orbital fracture, thyroid-related
ophthalmopathy, and Brown or superior oblique tendon syndrome exodeviations. SO R
(Figure 15-5).
IMAGING SURGERY
brain and orbits with and without contrast is indicated if the

results of the history and physical examination point to a possible that cause obstruction of the visual axis (ptosis repair, cataract
neurologic cause. Several features warrant investigation with removal, or capillary hemangioma treatment). 10–13 SO R
imaging:
~ Abrupt onset. ~ Recession: move the “over-working” muscle posteriorly in order
~ History of trauma. to weaken it (Figure 15-7).
~ Associated neurologic signs such as anisocoria, ptosis, nystagmus, ~ Resection: remove a segment and reattach a relatively underact-
seizures, or headache. ing muscle in order to strengthen it.
PART 4
O PHTHALMO LO GY
A
B
FIGURE 15-4 Duane synd rome . A. Eye s are straig ht in p rimary

p osition. B. Re d uce d ab d uction of the rig ht e ye with a le ft e sotrop ia.
C. Normal ad d uction of the rig ht e ye b ut g lob e re traction and p alp e -
C b ral ssure narrowing of the rig ht e ye in ad d uction. (Use d with
p e rmission from Paul J. Rychwalski, MD.)
FIGURE 15-5 Rig ht Brown synd rome (sup e rior ob liq ue te nd on syn-
d rome ). Note re stricte d up g aze of rig ht e ye in ad d uction and ap p are nt FIGURE 15-6 Pse ud ostrab ismus. Note ce nte re d lig ht re e xe s, wid e
ove r-e le vation of the le ft e ye in ab d uction. (Use d with p e rmission from nasal b rid g e and p romine nt e p icanthal fold s. (Use d with p e rmission
Paul J. Rychwalski, MD.) from Paul J. Rychwalski, MD.)
PART 4
102 CHAPTER 15
O PHTHALMO LO GY
problem is found during routine eye exams, referral to a

pediatric ophthalmologist may be required.
~ Learning disabilities are quite common in childhood years and

have many causes. The eyes are often suspected but are almost
improve a learning disability. A referral for a thorough evaluation

by an educational specialist may be indicated. 8
PRO GNO SIS

FIGURE 15-7 Eyes now in alig nment one week after bilateral medial rec-
tus recession for congenital esotropia. Note the remaining subconjuncti-
val hemorrhages. (Used with p ermission from Paul J. Rychwalski, MD.)
to amblyopia therapy remains a signi cant barrier to success even in
cases of strabismus caught and treated early.
REFERRAL
Indications for referral to a pediatric ophthalmologist include: FO LLO W-UP
Follow-up is typically conducted every 2 to 3 months if the child is

patching. In younger children, close follow-up is recommended, as
deviation. the risk of amblyopia is higher during the critical period of visual
development. Children otherwise at risk are seen at 6 and 12 month
position of gaze). This could be a cranial nerve palsy, trauma or intervals.
extraocular muscle syndrome.
PATIENT EDUCATIO N
ophthalmologist is important.
PREVENTIO N AND SCREENING correction of any problem.
problems. PATIENT AND PRO VIDER RESO URCES
more likely to have eye problems. Strabismus—www.aapos.org.

www.childrenseyefoundation
Academy of Pediatrics recommend that children have their eyes .org.
checked by a pediatrician at the following ages:14,15
www.aap.org.
~ All babies should have their eyes checked for infections, www.aao.org.
defects, cataracts, or glaucoma before leaving the hospital. This
is especially true for premature babies, babies who were given
oxygen for an extended period, and babies with multiple medi- REFERENCES
cal problems. -
bismus and the gain of using heredity to determine populations
~ As part of each well-child visit, eye health, vision development, at risk of developing strabismus. Acta Ophthalmol Scand. 1999;
and alignment of the eyes should be checked. 77:653.
~ types of childhood esotropia: a population-based study. Ophthal-

cause problems with later development. mology. 2007;114:170.
PART 4
O PHTHALMO LO GY
factors for common vision problems in children: data from the

ALSPAC study. Br J Ophthalmol. 2008;92:959. ocular alignment. Journal of AAPOS. 2005a;9(6):542-545.
-
surgery for secondary sensory strabismus. Strabismus. 2010;18(1),
Ophthal- 24-31.
mology. 2008;115(7):1229-1236.
recession for correction of horizontal sensory strabismus in
children. Journal of AAPOS. 2013;17(2):174-176.
Acta
Pediatrics. 2013;131(3):540-547. ophthalmologica Scandinavica. 2007;85(7):711-723.
randomized trial of atropine vs patching for treatment of moder- ocular alignment. Journal of AAPOS. 2005;9(6): 542-545.
ate amblyopia in children. Archives of ophthalmology. 2005b;
123(2):149-157. and young adults by pediatricians. Pediatrics. 2003;Apr;111(4,1):
902-907.
15. American Academy of Pediatrics. Instrument-based pediatric
amblyopia in children aged 7 to 17 years. Archives of ophthalmology. vision screening policy statement. Pediatrics. 2012;130(5):983-6.
2005;123(4), 437-447.
PART 4
104 CHAPTER 16
O PHTHALMO LO GY
16 RETINO BLASTO MA leukocoria. Precise diagnosis ensures appropriate and early treatment
to prevent irreversible blindness from primary pathology, secondary
AND THE DIFFERENTIAL amblyopia, or life-threatening malignancies.
DIAGNO SIS O F
LEUKO CO RIA SYNO NYMS
Ab d ul-Karim Sle iman White pupillary re ex. White pupil.
Arun Sing h, MD
Elias I. Trab oulsi, MD
EPIDEMIO LO GY
PATIENT STO RY referred with leukocoria to tertiary centers. 1
A 14-month-old boy was referred by his pediatrician because a whit-

with leukocoria.
ish re ex from his left pupil (Figure 16-1) was noticed by his parents
in certain directions of gaze. It was also noted on a few recent photo-
graphs. His pediatrician had checked the pupillary light re ex and births, with an annual incidence of 11.8 per million children
indeed noted a dimmer and tan-colored re ex from the left pupil as between zero and four years of age in the US and similar statistics
opposed to a brighter and more reddish re ex in the left eye. She in Europe. 4
referred the child for further evaluation and management. Dilated
fundus examination revealed a single large tumor in the left eye, estimates of their incidence are not available.
occupying more than 50 percent of the globe. Ultrasonography
showed a pattern consistent with calci cations within the tumor, and
suggestive of retinoblastoma. A magnetic resonance imaging (MRI) ETIO LO GY AND PATHO PHYSIO LO GY
scan showed no evidence of optic nerve or intracranial involvement.
There were no other tumors in either eye. There was no family his- -
tory of retinoblastoma. A decision was made to enucleate the eye ferent conditions that cause it is an interference with the normal
because of the size of the tumor. red re ex from opacities or abnormalities that occur strictly any-
where from the crystalline lens and posteriorly, hence excluding
corneal opacities.
INTRO DUCTIO N
circumscribed retinal mass.
Leukocoria means a white (leuko) re ex from the pupil (coria). Leuko-
coria is a sign observed by the naked eye or with a scope, often (pRB) is inactive or absent secondary to mutations in both alleles of
detected incidentally on routine eye examination, or in photographs; the tumor suppressor gene RB1 in a retinal progenitor cell. 5
it is not a diagnosis. The most feared cause of a white re ex in the
pupil is retinoblastoma, the most common intraocular tumor of child-
hood. Other conditions can manifest themselves initially with somatic) explains both heritable and non-heritable forms of
retinoblastoma.
(see Table 16-1).
RISK FACTO RS
confers up to 90 percent risk of developing retinoblastoma.
offspring and siblings.
hereditary retinoblastoma.
other malformations including facial dysmorphism.

FIGURE 16-1 Le ukocoria in the le ft e ye of this infant with re tinob las-
toma. The tumor can actually b e visualize d b e hind the cle ar le ns. (Use d
with p e rmission from Elias Trab oulsi, MD.) are currently evaluating histopathologic risk factors, familial and
TABLE 16-1 Diffe re ntial Diag nosis and Fe ature s of Entitie s that Can Simulate Re tinob lastoma or Cause a Whitish Re e x from the Pup il
Pre ve nt io n,
De nit io n & Cause s and Risk Scre e ning ,
Ent it y Ep id e mio lo g y Le uko co ria Fact o rs Clinical Fe at ure s Manag e me nt Pro g no sis & Ed ucat io n
Cataract Prog re ssive O p acity in the Ge ne tically d e te r- De cre ase d visual If e xtra-axial or small & Untre ate d , amb lyo- Re d re e x scre e ning
op aci cation le ns. mine d in 50 acuity. g ood vision, conse rva- g e nic and causing for all child re n in
R
E
of the le ns. Notice d b y p ri- p e rce nt of Nystag mus. tive : close follow up p artial or total e ve ry e xam.
T
I
N
Cong e nital: mary care p hy- case s; mostly Strab ismus. d uring ag e of visual b lind ne ss. Re g ard le ss of le uko-
O
~ 2 p e r 10,000. sician or p ar- autosomal Photop hob ia. d e ve lop me nt With e arly d iag nosis coria, all hig h risk
B
L
Infantile : e nts, b y nake d d ominant. Family history of (until 8 to 9 ye ars). and tre atme nt, child re n (p ositive
A
S
1 to 15 p e r e ye , on re d Could b e a he re d itary cataract. O the rwise , p romp t surg i- visual acuitie s of family history, p e r-
T
O
D
10,000. re e x e valua- sig n of sys- Fe ature s of g e ne tic cal e xtraction with 20/40 to 20/20 can sonal history of
M
I
A
A
tion or in te mic or infe c- d isord e rs associate d op tical re hab ilitation b e achie ve d in ionizing rad iation
G
A
N
p hotos. tious p roce ss, with cataract (g alac- (intraocular le ns or many case s. e xp osure , long -
N
O
D
or the re sult of tose mia, Down’s, p ostop e rative contact Poor p rog nostic fac- te rm use of sys-
S
I
T
S
an injury. e tc). le ns) + ne ar vision tors: nystag mus, te mic ste roid s, or a
H
O
E
Lab s for infe ctions or g lasse s + fre q ue nt strab ismus, and syste mic d isord e r
F
D
L
me tab olic cause s. ad justme nt of p re scrip - unilate ral infantile associate d with
I
E
F
U
F
Ge ne tic te sting and /or tion with g rowth. or cong e nital cataracts) re q uire
E
K
R
O
karyotyp e . O cclusion the rap y cataract. re fe rral and ye arly
E
C
N
(p atching ) if amb lyop ia op hthamolog ic
O
T
R
I
A
e nsue s. follow-up .
I
A
L
Pe rsiste nt Cong e nital mal- Rud ime ntary vas- Arre st of normal Microp hthalmia. O cular ultrasound : p e rsis- Hig h risk of: g lau- Re d re e x scre e ning
fe tal vas- formation cular stalk in involution of Strab ismus. te nt hyaloid re mnants coma, cataract, for all child re n in
culature re sulting from vitre ous associ- the e mb ryonic Cataract. with hyaloid arte ry or intraocular he mor- e ve ry e xam.
(PFV) or failure of ate d to vascular con- Vascularize d white canal from d isc into vit- rhag e , and re tinal No p re ve ntive me a-
Pe rsis- re g re ssion of p laq ue -like ne ctive tissue re trole ntal tissue . re ous toward s le ns + d e tachme nt. sure s availab le d ue
te nt the p rimary op acity re tro- that normally Promine nt irid ial con rmation of othe r Visual p rog nosis lim- to sp orad ic nature
hyp e r- vitre ous and le ntal b rovas- occurs afte r 4 ve sse ls. clinical nd ing s. ite d b y associate d of the ab normality.
p lastic hyaloid vascu- cular tissue . months g e sta- Elong ate d ciliary CT or MRI: same as ultra- op tic ne rve or mac- Has b e e n d iag -
O
vitre ous lar syste m. Usually unilate ral tion. p roce sse s sound . With contrast: ular d ise ase . nose d on fe tal
P
(PHPV). Rare in the p op - (Fig ure 16-4). Non he re d itary. Glaucoma. hyp e rvascular vitre ous. Long te rm: e nucle - ultrasound .
H
T
ulation. O the r malformations Tre atme nt: Le ns e xtrac- ation for te rminal
H
P
PFV is in up to (intrale nticular he m- tion and ante rior vitre c- g laucoma, intra-
A
A
63 p e rce nt of orrhag e , uve al tomy; can b e comp le x. ocular he morrhag e ,
L
R
M
T
child re n p re - colob oma, e tc) Enucle ation in se ve re re tinal d e tachme nt,
4
O
se nting with Poste rior fe ature s (re ti- case s with no vision p hthisis b ulb i.
L
le ukocoria. nal fold , hyp op lastic and malforme d small
O
macula &/or op tic g lob e .
G
Y
ne rve , traction re ti-
nal d e tachme nt +
stalk to op tic d isc)
(continue d )
1
0
5
1
0
6
TABLE 16-1 Diffe re ntial Diag nosis and Fe ature s of Entitie s that Can Simulate Re tinob lastoma or Cause a Whitish Re e x from the Pup il (Continue d )
Pre ve nt io n,
O
P
H
T
H
Exte nsive Ab normal Le sion follows Most case s are Mostly asymp tomatic. Visual e ld te st. Ge ne rally stab le . Poor Typ ically stab le and
P
A
A
mye lina- mye lination of d istrib ution of sp orad ic. Can Usually normal vision Asymp tomatic case s: no vision from amb lyo- b e nig n d ise ase .
L
R
M
T
tion of ne rve b e rs of ne rve b e rs, occur in the (scotomas or tre atme nt re q uire d . p ia in some case s. No p re ve ntive me a-
4
O
the ne rve the re tina. typ ically stri- conte xt of e nlarg e d b lind sp ots Symp tomatic case s: sure s availab le .
L
ber Almost in 1 ate d white or some syn- may occur). In e xte n- p romp t tre atme nt of
O
laye r p e rce nt of the g ray mye lin- d rome s such as sive case s has b e e n coe xisting cond itions
G
p op ulation. ate d ne rve Gorlin syn- associate d with a that are associate d with
Y
b e rs p atche s d rome (b asal hig he r incid e nce of ne g ative p rog nosi such
with fe athe ry ce ll ne vus syn- amb lyop ia, myop ia, as hig h myop ia and
b ord e rs d rome ). and strab ismus. amb lyop ia.
(Fig ure 16-5). O p tic ne rve may
also b e hyp op lastic.
Re tinop a- De ve lop me ntal O p aq ue mass Pre maturity De te cte d on scre e ning Pre thre shold RO P: e le c- Irre g ular p rog re ssion. First scre e ning e xami-
thy of vascular d isor- b e hind le ns <32 we e ks b y an e xp e rie nce d tive tre atme nt for p re - Sp ontane ous nation: suf cie nt if
p re matu- d e r with (re trole ntal De cre asing g e sta- op hthalmolog ist: ve ntion of p rog re ssion. re g re ssion in vast b oth re tinas fully
C
H
rity uncontrolle d b rop lasia) in tional ag e and location and re tinal Thre shold RO P: ab lation majority in 4 vascularize d .
A
(RO P). vasop rolife ra- ad vance d and b irth we ig ht. chang e s note d . of p e rip he ral ab normal months. Scre e ning e xamina-
P
T
E
tion of incom- untre ate d Assiste d ve ntila- The AAP/AAO /AAPO S re tina with lase r p hoto- Poor visual acuity or tions should con-
R
p le te ly vascu- case s of RO P tion (>1 we e k). 2006 re comme nd a- coag ulation (b e tte r fund us structural tinue until RO P
1
6
larize d re tinas and re tinal Surfactant therapy. tions for scre e ning : than cryothe rap y). ab normalitie s in re g re sse s and the
of p re mature d e tachme nt. Blood transfu- 1- all infants with a Se ve re RO P without 5.1 p e rce nt. ve sse ls mature , or
infants. sions. b irth we ig ht <1500 g re tinal d e tachme nt + Blind ne ss in child re n until tre atme nt is
Affe cts around Se ve rity of illne ss. or g e stational ag e ocular op acitie s <1000 g b irth ne e d e d .
21 p e rce nt to Hyp e rg lyce mia ≤32 we e ks (p hotocoag ulation not we ig ht. Pre ve ntion targ e te d at
36 p e rce nt of and insulin 2- se le cte d infants p ossib le ): Be vacizumab Poor visual p rog nosis oxid ant injury (vita-
p re te rm the rap y. we ig hing : 1500 to (anti-VEGF) off-lab e l in untre ate d se ve re mins, p e nicillamine ,
infants. Se p sis. 2000 g or g e sta- (op timal timing and RO P. and limiting lig ht
Ele vate d arte rial tional ag e >32 we e ks d ose unknown). Hig h risk for: vitre ous e xp osure ): te ste d
oxyg e n te n- with an unstab le Re tinal d e tachme nt: he morrhag e s, p re - b ut not sup p orte d
sion. clinical course urg e nt surg ical re tinal me mb rane , b y e vid e nce .
Fluctuations in 3- infants at hig h risk tre atme nt. tractional re tinal Re comme nd ations:
b lood g as accord ing to the ir Post-tre atme nt follow-up d e tachme nt, stra- avoid ing e p isod e s
me asure me nts. atte nd ing p e d iatri- e xam: we e kly or b ismus, anisome - of p hysiolog ic
Intrave ntricular cian or ne onatolo- b iwe e kly for 1 to 2 trop ia, future myo- instab ility.
he morrhag e . g ist. months the n le ss fre - p ia.
Bronchop ulmo- q ue ntly d e p e nd ing on
nary d ysp lasia. clinical course .
Toxocariasis O cular infe ction Sub re tinal g ranu- O cular le sion: The only manife station Pe rip he ral g ranuloma 56 p e rce nt suffe r p e r- No scre e ning (no
cause d b y a loma: whitish, 1 cause d b y of the d ise ase may (sile nt, minimal in am- mane nt vision loss. ne e d for tre atme nt
zoonotic p ara- to 2 d isc d iam- in ammatory b e ocular. mation) d oe s not Poor visual p rog nostic if sile nt).
site : the d og e te rs, locate d re sp onse to the Unilate ral. re q uire tre atme nt. factors are : Pre ve ntion b y re d uc-
or cat ascarid anywhe re in se cond -stag e Sub re tinal g ranuloma Anthe lmintics (tiab e nd a- Se ve re vitre itis. ing oral transmis-
Toxocara the re tina. larva. (alone , in a q uie t zole or d ie thylcarb am- Cystoid macular sion to humans:
(canis or Ne matod e e nd o- Human infe ction: e ye ). aze p ine ) are controve r- e d e ma. p e riod ic d e worm-
R
E
catis). p hthalmitis: d ue to accid e n- Re tinal d amag e : fold s, sial: larvae d e ath may Tractional re tinal ing tre atme nt of
T
I
N
Most common in larg e in am- tal ing e stion of e le vation, d e tach- incre ase in ammation. d e tachme nt. p e ts (e sp e cially lac-
O
child re n ag e d matory mass infe ctive e g g s me nt. Ste roid umb re lla (syste mic tating fe male s),
B
L
1 to 5 ye ars. (with p romi- and tissue inva- Strab ismus. or p e riocular) with time ly d isp osal of
A
S
Le ukocoria is the ne nt vitre ous sion of se cond De cre ase d vision. anhe lmintics to re d uce p e t fe ce s, and
T
O
D
presenting sign in ammation). stag e larvae . Chronic e nd op hthalmi- in ammation, or alone g ood hyg ie ne p rac-
M
I
A
in 15 percent Both le sions may Transmission: b y tis. to control vitre ore tinal tice s.
A
G
A
N
of the cases. have calci ca- con- taminate d Uve itis (p oste rior). tractional me mb rane s. Ed ucation to p atie nts
N
O
98 p e rce nt of tion & b e food or g e o- Macular and op tic Vitre ore tinal surg e ry: at risk: to p re ve nt
D
S
I
T
S
the case s confuse d with p hag ia. ne rve d isve rsion. for vitre ous op acitie s, infe ction in p e ts,
H
O
E
have a history re tinob las- Factors in uencing Positive se rum IgG e p ire tinal me mb rane s, and to avoid e xp o-
F
D
L
ne g ative for toma. onset of ocular (ELISA): con rmatory. and re tinal d e tachme nt. sure to p ote ntially
I
E
F
U
F
visce ral larva disease are Ne g ative se rum Ig G: Laser photocoagulation: to contaminate d soil.
E
K
R
O
mig rans syn- unknown, but doe s not rule Toxo- kill mobile visible larva,
E
C
N
d rome . the in ammatory cariasis out. Aque ous under “steroid umbrella.”
O
T
R
I
reaction is mainly humor antibod ie s O the r op hthalmolog ic
A
I
A
L
associated with de monstrate intra- p roce d ure s to imp rove
larval death. ocular p rod uction. vision.
O p tic d isc Cle ft of the op tic White sharp Sp orad ic or inhe r- Unilate ral or b ilate ral. Re nal ultrasound to rule Visual acuity rang e s Re d re e x scre e ning
and d isc se cond - d e ce nte re d ite d . Thin ne urore tinal rim. out sig ni cant re nal form normal to for all child re n in
uve al ary to failure e xcavation in Isolate d or p art of Iris & ciliary colob oma. d ise ase . comp le te visual e ve ry e xam.
colo- of the fe tal s- the op tic d isk. a synd rome : O rb ital cyst. Rule out CHARGE syn- loss (not p re d ict- No p re ve ntive me a-
b oma. sure to close May e xte nd infe - Renal coloboma Iris he te rochromia. d rome (Colob omas, ab le b y ap p e arance sure s availab le d ue
infe riorly. riorly to re tina syndrome Re tinal ve nous malfor- He art d e fe cts, Choanal of the le sion). to nature of the
O
Rare . and choroid (autosomal mations. Atre sia, Re tard e d Be st visual p rog nostic ab normality.
P
(rare ly affe cts dominant, PAX2 Re nal colob oma nd - g rowth, Ge nital ab nor- factor: sp aring of
H
ing s (VU re ux, re nal malitie s, the fove a b y associ-
T
the e ntire d isc; ge ne on 10q).
H
Fig ure 16-6). CHARGE syn- hyp op lasia, re nal Ear ab normalitie s) with ate d choriore tinal
P
A
A
d rome . failure , chronic e chocard iog rap hy, colob oma.
L
R
M
T
O the r synd rome s ne p hritis). nasal cathe te r (or CT
4
O
(Walke r- CHARGE synd rome sinuse s) and he aring
L
Warb urg , (+PHPV, microp h- te st.
O
Aicard i, Gold e n- thalmos, facial p alsy,
G
Y
har, line ar facial d ysmorp hism,
se b ace ous TE stula, re nal, car-
ne vus, Noonan, d iovascular and CNS
focal d e rmal ab normalitie s.)
hyp op lasia).
(continue d )
1
0
7
1
0
8
TABLE 16-1 Diffe re ntial Diag nosis and Fe ature s of Entitie s that Can Simulate Re tinob lastoma or Cause a Whitish Re e x from the Pup il (Continue d )
Pre ve nt io n,
O
P
Coats d is- Primary re tinal Luminous le uko- Id iop athic, con- 90 p e rce nt unilate ral. Tre atme nt g oal: arre sting Variab le e volution. As p re cise orig in is
H
e ase te lang ie cta- coria from g e nital, and Decreased visual acuity. vascular p rog re ssion. Sp ontane ous stab ili- unknown, d ise ase
T
H
sias, a rare massive ye llow nonhe re d itary. Strab ismus. Cryothe rap y or lase r p ho- zation or re g re ssion cannot b e p re -
P
A
A
e xud ative re ti- e xud ate s on/in Somatic mutation Re tinal te lang ie ctasia: tocoag ulation: limite d is occasional and ve nte d .
L
R
M
T
nop athy usu- e d e matous re t- in NDP g e ne , usually p e rip he ral succe ss. Avoid e d if may b e te mp orary
4
O
ally affe cting ina (p se ud o- causing d e - string s of fusiform le sions around op tic or p e rmane nt, b ut
L
young male s tumor; Fig ure cie ncy of norrin ane urysmal d ilata- ne rve . usually with loss of
O
(80% are 5 to 16-7). (p rote in p rod - tions of the re tinal Enucle ation is an op tion ce ntral vision (mac-
G
10 ye ars old ). uct) in the ve sse ls (tiny lig ht for furthe r comp licate d ular d e p osits).
Y
d e ve lop ing b ulb s). case s. Re tinal e xud ation can
re tina. Pse ud o-tumoral e xu- cause re tinal
No known associ- d ate s, p re d ile ction d e tachme nt.
ate d syste mic for macula. Prog re ssive re tinal
p rob le ms. Exud ative (p artial or d amag e and e ve n-
total) re tinal d e tach- tual d e nitive
me nt. b lind ne ss.
Irid is rub e osis.
C
Ne ovascular g laucoma.
H
A
Cataract.
P
Uve itis.
T
E
R
Phthisis b ulb i.
1
6
Morning Cong e nital Ce ntral white g li- Unknown. Sp o- Unilate ral. MRI: transsp he noid al Se rous re tinal d e tach- No p re ve ntive me a-
Glory anomaly: fun- altuft of tissue rad ic occur- Usually isolate d . e nce p haloce le may b e me nt re tinal fold s, sure s availab le for
syn- ne l shap e d at ce nte r of re nce in g re at Re tinal d e tachme nt se e n affe cting the and sub re tinal malformation itse lf.
d rome e xcavation of op tic cup , sur- majority of up to 1/3 of nasop harynx. MRAs are ne ovascularization
the fund us round e d b y case s. Some case s. e sse ntial to rule out may contrib ute
and the op tic ve sse ls rad iat- und e rlying Association to mid line associate d Moyamoya to a p oor visual
ne rve he ad ing out like g e ne tic d e fe ct cranial d e fe cts with d ise ase that could b e p rog nosis.
with a ring of sp ike s from an must b e p re s- symp toms of mouth- tre atab le . Usually se ve re ly
choriore tinal e nlarg e d op tic e nt (se e associ- b re athing , snoring , re d uce d visual acu-
p ig me nt ne rve he ad . ate d malforma- and rhinorrhe a. ity (20/200 to ng e r
around the tions). Baasal ce p haloce le s counting ). But
d isk. Re p orte d associations occasionally b e tte r.
Uncommon, b ut with cap illary he m-
more com- ang iomas, carotid
mon in circulation ab nor-
fe male s. malitie s such as
Moyamoya d ise ase ,
and re nal d ise ase .
Cong e nital O cular infe ction Fluffy whitish Transp lace ntal No clinical sig ns in 90 Fluore sce in ang iog rap hy: Poor p rog nostic fac- Cooking food to safe
Toxo- with the p role sion + re tinal transmission p e rce nt of cong e ni- hyp o uore sce nce , fol- tor: e arlie r infe ction te mp e rature s and
p lasmo- tozoa Toxo- e d e ma: ne cro- from infe cte d tal infe ctions. lowe d b y p rog re ssive in p re g nancy. othe r hab its that
sis p lasma caus- sis, usually mothe r to Symp tomatic infe ction: le akag e . Ind ications to tre at: re d uce risk from
ing uve itis, involving inne r fe tus, hig he st Choriore tinitis (in 80 Ind ocyanine ang iog rap hy: Le sions involve me nt food , as we ll as
vitritis, and laye rs of the in 3rd se me ste r. p e rce nt of cong e ni- d ark small sp ots of the op tic d isc, ke e p ing p re g nant
focal ne crotiz- re tina whe re Mate rnal infe ction tal case s, and usually around the le sions p ap illomacular wome n away form
R
E
ing re tinocho- the p rimary from ing e stion b ilate ral), intracra- imp lying re tinal involve - b und le , or macula. litte r b oxe s and
T
I
N
roid itis. site of multip ly- of und e r- nial Calci cation, me nt is g re ate r than Active larg e le sions. othe r b e haviors
O
Cong e nital ing p arasite s is. cooke d or con- convulsions, as we ll initially se e n. Use ful Immunocomp romise d that re d uce risk
B
L
case s show Possib le site s taminate d d airy as ce re b ral p alsy, for follow up afte r p atie nt. from the e nviron-
A
S
choriore tinal of contig uous p rod ucts and me ntal re tard ation, tre atme nt. me nt are re com-
T
O
D
scars (Fig ure in ammation: me at, or microce p haly or Pharmacolog ic the rap ie s: me nd e d b y the
M
I
A
16-8), may choroid and (d ire ctly or hyd roce p haly. Trip le : p yrime thamine , CDC and the
A
G
A
N
also have scle ra. ind ire ctly) cat Accounts for up to sulfad iazine , & p re d ni- USDA.
N
O
sone . Q uad rup le : ad d
D
op tic atrop hy, fe ce s. 50 p e rce nt of case s
S
I
T
S
cataract, and Immune d e cie nt of p oste rior uve itis clind amycin. + folinic
H
O
E
microp hthal- state p rime s for case s. acid to avoid he mato-
F
D
L
mos. infe ction or Panuve itis, op tic atro- log ic comp lications
I
E
F
U
F
re activation of p hy, microp hthal- of p yrime thamine .
E
K
R
O
toxop lasmosis mos, cataract. Duration of the rap y
E
C
N
(HIV or me d ical Re tinal d e struction & d e p e nd s on clinical
O
T
R
I
immune sup - thicke ning from re sp onse : usually 4 to
A
I
A
L
p re ssion). re tinal vasculitis. 6 we e ks.
Ele vate d Ig M in Goals: to e rad icate p ara-
ne onate (ELISA). site and sup p re ss
in ammation.
O
P
H
T
H
P
A
A
L
R
M
T
4
O
L
O
G
Y
1
0
9
PART 4
110 CHAPTER 16
O PHTHALMO LO GY
environmental factors, multimodality treatments (including chemo-

therapies, stem cell therapy and viral oncolysis) for extraocular
retinoblastoma and associated tumors, and late complications in
survivors. 6–8
DIAGNO SIS
anesthesia with ocular, orbital and brain imaging as well as ocular

photography.
CLINICAL FEATURES
strabismus, poor vision, family history alone, and ocular in amma-

tion.
FIGURE 16-2 Wid e-ang le fund us p hotog rap h reveals two retinob las-
toma tumors nasal to the op tic nerve head . (Used with p ermission from
retinal detachment, and/ or towards the vitreous (endophytic) with Elias Trab oulsi, MD.)
possible intravitreal seeding.
- -
nant neoplasms. cally challenging cases.
-
DISTRIBUTIO N ence of exudative retinal detachment.
- optic nerve and choroid involvement, and any associated brain tumors.
eral and multifocal and occur early in infancy. They carry a high
risk of second extraocular tumors.
disease with pinealoblastoma), second malignancies (sarcomas), or
metastasis. diagnosis of retinoblastoma (see Table 16-1).
-
blastoma is classi ed according to the International Intraocular
prognostication of globe salvage. 9
following section).
indispensable for detecting microscopic in ltration of the optic

-
10
-
ment; baseline blood chemistries and complete blood count before
chemotherapy.
IMAGING
-
si cation (Figure 16-2).
usually with calci cations, and evaluates the surrounding orbital

tissues (Figure 16-3). FIGURE 16-3 O cular B-scan ultrasonogram of a single medium sized
intraocular tumor. The areas of increased echodensity (white areas) within
- the mass correspond to foci of calci cation. (Used with permission from
tic intratumoral calci ed foci, but it is avoided for the associated Elias Traboulsi, MD.)
RETINO BLASTO MA AND THE DIFFERENTIAL PART 4
DIAGNO SIS O F LEUKO CO RIA 111
O PHTHALMO LO GY
FIGURE 16-6 Larg e choriore tinal colob oma involving the op tic ne rve
he ad and the infe rior p art of the fund us. This will cause a white p up illary
FIGURE 16-4 Pe rsiste nt hyp e rp lastic p rimary vitre ous. The p oste rior re e x. (Use d with p e rmission from Elias Trab oulsi, MD.)
p ortion of the re taine d and p rolife rate d fe tal vitre ous is attache d to the
op tic ne rve he ad . Ante riorly the se p atie nts have a whitish mass occup y-
ing the p oste rior asp e ct of the le ns and d rag g ing the ciliary p rocesses
towards the le ns. (Used with p e rmission from Elias Trab oulsi, MD.)
best predictor of treatment outcomes, especially rst-line chemo-
9
MANAGEMENT
intraocular tumor burden, and tumor extent beyond the eye.
term follow-up, and (4) genetic counseling. adverse effects of therapy. 6
FIGURE 16-7 Ye llowish macular e le vate d le sion mad e of chole ste rol
FIGURE 16-5 Exte nsive mye lination of the op tic ne rve b e rs in this e xud ate s from an ab normal le aky vascular ane urysm (not e vid e nt on
rig ht e ye . Note uffy e d g e s and p artial ob struction of the vie w of the this p hoto). The ane urysm can b e in the p e rip he ral p art of the re tina
op tic ne rve he ad b y the white op aq ue mye linate d axons. (Use d with and the le akag e will p ool in the p oste rior p ole . (Use d with p e rmission
p e rmission from Elias Trab oulsi, MD.) from Elias Trab oulsi, MD.)
PART 4
112 CHAPTER 16
O PHTHALMO LO GY
CO MPLEMENTARY/ ALTERNATIVE THERAPY
-
tary disease.
minimal complications, especially for localized tumors. SO R
makes globe salvage more likely than when applying either modal-
ity alone. SO R
SURGERY
when the affected eye is unsalvageable, that is, hope of useful vision
-
ments have failed. 14 SO R
FIGURE 16-8 Macular choriore tinal scar from co ng e nital toxop lasmo-
sis. The white is scle ra and the b lack is p rolife rate d re tinal p ig me nt e p i-
the lium d uring the he aling p hase of the infe ctions and in ammato ry the pathology indicates high-risk features. SO R
p roce ss. This is a typ ical location for cong e nital toxop lasmosis. (Use d
with p e rmission from Elias Trab oulsi, MD.)
be placed.
REFERRAL
NO NPHARMACO LO GIC ophthalmologist.

-
therapy, laser photocoagulation or transpupillary thermotherapy) leukocoria.
can salvage the eye.
- risk from the clinical features, the imaging, and the histopathology.
therapy. 6 SO R
oncologist needs to be involved in the management.
small tumors.
and adolescent patients with malignancy to a medical center where
tumors. the treatment plan can be developed under the care of a multidisci-
plinary team. 6
mass, heats it up, and destroys it.
enucleation. -
uation with close follow up screening until age of 6 or until nega-
MEDICATIO NS tive genetic test for RB1. 14
retinoblastoma. testing is used to distinguish asymptomatic children at risk from

relatives without the mutation. 5,15
standard multi-agent regimens also include vincristine ± etoposide -
for 6 cycles. 6,11 SO R mented germline mutations should undergo close surveillance.
seeding. PRO GNO SIS
therapy.
- poor visual prognosis. 16
tumors. SO R rate (success of chemoreduction, no enucleation, no EBRT). 16–18

RETINO BLASTO MA AND THE DIFFERENTIAL PART 4
DIAGNO SIS O F LEUKO CO RIA 113
O PHTHALMO LO GY
19
www.uptodate.
- com/ contents/ overview-of-retinoblastoma.
pathology. ®
), Health Professional Version,
http:// cancer.gov/ cancertopics/ pdq/

in the US. treatment/ retinoblastoma/ HealthProfessional.
-
ond malignancies in adulthood.
REFERENCES
Genetic Diseases of the Eye
FO LLO W-UP
Clinical Ophthalmic Oncology
-
chronous bilaterality. 6
-
tions with or without MRI.
Teaching Hospital, Bamako, Mali. Br J Ophthalmol
relapse. 19
4. Broaddus E, Topham A, Singh AD. Incidence of retinoblastoma in
Br J Ophthalmol.
sarcomas. 5
GeneReviews at Gene-
Tests: Medical Genetics Information Resource (database online). Pagon
PATIENT EDUCATIO N
critical information. 6. Retinoblastoma Treatment (PDQ®) Health Professional Version

Intraocular Retinoblastoma Treatment. RetinoblastomaTreatment
-
individuals and families for better decision-making.
determines the risk to offsprings. Clinical

Trials Search Results
are discussed with young adults who are affected or at risk, www.cancer.gov/ clinicaltrials/ search/ results?protocolsearc
optimally prior to pregnancy. hid=
MD Anderson Solid
Tumor Oncology Series
Science+
PATIENT RESO URCES
® group classi cation. Ophthalmol Clin North Am
), Patient Version, from the
http:// cancer.gov/ cancertopics/ pdq/ treatment/

retinoblastoma/ patient. features, magnetic resonance imaging, and histopathologic nd-
Ophthalmology.
http://
cancer.gov/ cancertopics/ understandingcancer/
genetesting.
Br J Ophthalmol
http://
www.cancer.org/ cancer/ retinoblastoma/ index. -
inoblastoma. Analysis of tumor control and risks for recurrence in
Am J Ophthalmol
-
www
.uptodate.com/ contents/ approach-to-the-child-
alone versus chemoreduction plus low-dose external radiother-
with-leukocoria.
Ophthalmology
PART 4
114 CHAPTER 16
O PHTHALMO LO GY
-
Principles and Practice of Pediatric Oncology, 6th ed, Pizzo PA, si cation of Retinoblastoma predicts chemoreduction success.
Ophthalmology
- Management of Retinoblastoma. Arch Ophthalmol

blastoma. A statistical survey of 500 children. I. Relative fre- -
Am J blastoma following enucleation. Br J Ophthalmol.
Ophthalmol
-
- Br J Ophthalmol
lateral sporadic retinoblastoma based on the initial external nd-
ings by the family and the pediatrician. J Pediatr Ophthalmol Stra-
hereditary retinoblastoma. Clin Sarcoma Res
bismus
PART 4
PRESEPTAL (PERIO RBITAL) CELLULITIS 115
O PHTHALMO LO GY
17 PRESEPTAL (PERIO RBITAL) SYNO NYMS

CELLULITIS Periorbital cellulitis or preseptal cellulitis.
Dawood Yuse f, MD
EPIDEMIO LO GY
PATIENT STO RY a mean age of 21 months. 1,2
A 1-year-old unimmunized boy is brought to the emergency depart-

is more common than orbital cellulitis. 3,4
ment by his mother because of fever, eyelid swelling, and erythema
for the past 24 hours. On examination, the child is febrile to 39ºC
and irritable. The right upper and lower eyelids are swollen and ery-
thematous, with no proptosis (Figure 17-1). His extraocular move-
ments are intact. A blood culture and complete blood count are
drawn and the patient is admitted to the hospital for preseptal celluli-
tis and treated with intravenous antibiotics. Twenty-four hours later, bacteriology of the infection.
the blood culture grows Haemophilus in uenzae type b. He was treated
with intravenous antibiotics and recovered completely. overlying the eyelid or face, such as external trauma to the eye, an
insect bite, or dacryocystitis (Figure 17-3).
Staphylococcus aureus (including community-associated methicillin-
INTRO DUCTIO N resistant S aureus [MRSA]) and Streptococcus pyogenes (Group A) are the
most common pathogens when the route of infection is secondary to
Preseptal (or periorbital) cellulitis is a bacterial infection of the eyelid direct spread from the skin. 3
anterior to the orbital septum that can result from bacteremia or
from direct extension from the surrounding skin. It should always be causing preseptal cellulitis. 5
distinguished from orbital cellulitis, which involves the tissue poste-
rior to the septum (Figure 17-2).
cellulitis is the more common complication of sinusitis. When
sinusitis is the source of infection, the usually causative organisms
are Streptococcus pneumoniae, H in uenzae, and anaerobes. 2,4
and mainly occurs in infants less than 2 years of age. In these cases,
FIGURE 17-1 A 1-ye ar-old b oy with b acte re mic p e riorb ital ce llulitis. FIGURE 17-2 Illustration of a sagittal section of the orbit. Orb ital septum
(Use d with p e rmission from Sab e lla C, Cunning ham RJ III. Inte nsive is the anatomical land mark use d to d iffe re ntiate orb ital (or p ostse p tal)
Re vie w of Pe d iatrics, 4th e d ition. Lip p incott Williams Wilkins, p 417, from p rese p tal ce llulitis. (Reprinted with p ermission, Cle veland Clinic
Fig ure 50.1.) Cente r for Medical Art & Photog rap hy © 2013. All Rig hts Re served.)
PART 4
116 CHAPTER 17
O PHTHALMO LO GY
FIGURE 17-3 Dacryo cystitis as a cause of p e riorb ital ce llulitis. (Use d FIGURE 17-4 Pe riorb ital ce llulitis comp licating he rp e s simp le x virus
with p e rmission from Johanna Gold farb , MD.) infe ction of the face . (Use d with p e rmission from Paul Rychwalski, MD.)
H in uenzae type b (Hib), S pneumoniae, and S pyogenes are the most

common pathogens. 6 DIAGNO SIS
-
CLINICAL FEATURES
-
nized children (Figure 17-1). 4
of preseptal cellulitis. Fever may or may not be present.
-
RISK FACTO RS gia, and proptosis are usually absent in preseptal cellulitis.
-
- ously mentioned and is helpful in making the diagnosis.
titis, which is in ammation and secondary infection of the nasolac- -
rimal sac (Figure 17-3 tion of bacteremia secondary to H in uenzae type b or S pneumoniae
Obstruction). 7 (Figure 17-5).
DISTRIBUTIO N
Figure 17-4; see Chapter 114,

Herpes Simplex).
-
tation is mild and the route of spread is clear and benign.
-
26, Sinusitis). plete blood count with differential and a blood culture may be helpful.
- symptoms are present, or if there is concern about hematogenous

route of spread. 1,2
PART 4
PRESEPTAL (PERIO RBITAL) CELLULITIS 117
O PHTHALMO LO GY
MANAGEMENT
MEDICATIO NS
empiric and targeted against the most common causative

organisms, predicted by the suspected route and source of
infection.
and the likelihood of bacteremic infection.

FIGURE 17-5 Buccal ce llulitis in a 6-month-old infant with p ne umo-
coccal b acte re mia. (Use d with p e rmission from Sab e lla C, Cunning ham -
RJ III. Inte nsive Re vie w of Pe d iatrics, 4th e d ition. Lip p incott Williams cent infection like dacryocystitis, a rst-generation cephalosporin
Wilkins, p 417, Fig ure 50.2.) an anti-staphylococcal penicillin, or clindamycin may be used as
initial empiric therapy. SO R
-
periorbital area should be obtained whenever possible. lence and epidemiology.
-
bacteremic disease is con rmed or suspected. Infants with bacteremic route of spread is suspected or proven, such as that seen with
H in uenzae type b infections. 9 SO R
meningitis. -
SO R
IMAGING
-
cases, this distinction is made clinically so that imaging is not. ics should be considered. SO R
are present, when there is ophthalmoplegia or impaired vision, or REFERRAL

in cases where clinical improvement is not achieved within 24 to
therapy, consultation with ophthalmology, infectious diseases,
and/ or otolaryngology should be considered.
differentiate preseptal from postseptal cellulitis.
PRO GNO SIS

-
-
ate therapy. Complications such as local abscess formation, retro-
orbital, and intra-cranial extension are extremely rare.
-
bital area can usually be distinguished by the history (see Chapter
FO LLO W-UP
cellulitis. The presence of pruritis, bilateral involvement, and
response to H2-blockers are suggestive of allergic reaction.
and with a good history.

PATIENT EDUCATIO N
bilateral.
- potential serious problem and warrants medical attention.

ni cant eyelid erythema and edema, but may be complicated by
infection is resolving in an expected manner.
PART 4
118 CHAPTER 17
O PHTHALMO LO GY
PATIENT RESO URCES

septal peri-orbital infections are different diseases. A retrospective
Periorbital Cellulitis—www.ncbi.nlm.nih.gov/
review of 262 cases. Int J Pediatr Otorhinolaryngol.
pubmedhealth/ PMH0001971/ .

Periorbital and Orbital Cellulitis—http:// vaccination. Ophthalmology.
pedsinreview.aappublications.org/ content/ 31/ 6/ 242
.full. of the eye and orbit. Trans Am Ophtha lmol Soc.
Preseptal Cellulitis—http:// emedicine.medscape
.com/ article/ 1218009. (periorbital) cellulitis in childhood. Pediatrics.
Periorbital Infections—http:// emedicine.medscape -
.com/ article/ 798397. Br J Ophthalmol.
facial cellulitis. Pediatr Infect Dis.

REFERENCES
-
Pediatr Infect
Dis J.
2. Hauser A, Fogarasi S. Periorbital and Orbital Cellulitis. Pediatrics in
Review.
PART 4
O RBITAL CELLULITIS 119
O PHTHALMO LO GY
18 O RBITAL CELLULITIS
Dawood Yuse f, MD
PATIENT STO RY
A 12-year-old boy is brought to the emergency room with progres-

sive eye lid swelling and redness associated with blurring of vision for
the past 24 hours. Physical examination is signi cant for left eye lid
swelling, erythema, ptosis, and painful eye movements. A com-
puted tomography (CT) scan of the orbit shows opaci cation of the
paranasal sinuses with retro-orbital extension and abscess formation
(Figure 18-1). He is diagnosed with orbital cellulitis and orbital
abscess and he is admitted to the hospital for intravenous antibiotics,
and otolaryngology and ophthalmologic evaluation. His orbital
abscess is surgically drained and he completes a 3-week course of
antibiotic therapy and recovers completely.
INTRO DUCTIO N
A
Orbital cellulitis is a serious infection of the orbit that involves the

tissue located posterior to the orbital septum (postseptal cellulitis).
Orbital cellulitis most commonly results as a complication of sinus-
itis, and should be distinguished from preseptal (periorbital) cellulitis,
which involves the anterior portion of the septum (Figure 18-2). 1,2
SYNO NYMS
EPIDEMIO LO GY
seen at any age.
close association between upper respiratory viral infections, rhino-

sinusitis, and orbital cellulitis.
ETIO LO GY AND PATHO PHYSIO LO GY B
FIGURE 18-1 A. Le ft e yelid swelling and ed ema in a 12-year-old b oy.

- B. Comp ute d tomog rap hy (CT) scan of the orb it re ve ale d le ft e th-
itis, especially ethmoidal sinusitis, which results in direct extension moid al sinusitis with e xte nsive ad jace nt p ost se p tal ce llulitis and
d e struction of the lamina p ap yrace a (arrow), the thin b ony structure
of the in ammation to the orbit. 1,3,4 se p arating the e thmo id sinus from the orb it. (Use d with p e rmission
from Camille Sab e lla, MD.)
fenestrated bony structure called lamina papyracea. Loss of integ-
rity of the lamina papyracea from in ammation results in orbital
extension (Figure 18-1). infection. Streptococcus pneumoniae is the most likely pathogen
- complicating acute sinusitis. Staphylococcus aureus, Streptococcus
trating trauma to the orbit, infection of the orbit following eye anginosus, and anaerobic bacteria warrant consideration when
surgery, and bacteremic disease. orbital cellulitis complicates chronic sinusitis. These pathogens as
PART 4
120 CHAPTER 18
O PHTHALMO LO GY
FIGURE 18-2 Illustration of a sag ittal se ction of the orb it. The orb ital
se p tum is the anatomical land mark use d to d iffe re ntiate orb ital (p ost-
se p tal) from p e rio rb ital (p re se p tal) ce llulitis. (Re p rinte d with p e rmission,
Cle ve land Clinic Ce nte r for Me d ical Art & Photog rap hy © 2013. All
Rig hts Re se rve d .)
well as gram-negative aerobes need to be considered when the pro-

cess is secondary to penetrating trauma. 1,3
Haemophilus in uenzae type
b (Hib) has become a very rare cause of orbital cellulitis since the
introduction of the Hib vaccine. However, this organism should FIGURE 18-3 O rb ital ce llulitis in a 7-ye ar-old b oy. (Use d with p e rmis-
always be considered as a potential cause of orbital cellulitis in sio n from Camille Sab e lla, MD.)
unimmunized children. 5
S aureus
an emerging pathogen causing orbital cellulitis. 6,7
life threatening cause of orbital cellulitis, occurring exclusively in eye surgery, or trauma may help identifying the source of the
immunocompromised hosts. infection.
nervous system involvement may indicate meningitis or intracranial

RISK FACTO RS extension.
DISTRIBUTIO N

DIAGNO SIS -
bital cellulitis.1,2,6 However, this is neither a sensitive or speci c
marker for orbital cellulitis.
appropriate imaging study.
years of age. These infants may have more systemic symptoms and/
CLINICAL FEATURES or peripheral leukocytosis.
main features of orbital cellulitis (Figures 18-1, 18-3, 18-4). 1,4,7 present, culture of the material often is not predictive of the
etiologic agent.
distinctive clinical features that help distinguish orbital from preseptal
cellulitis.1,4 surgical drainage is not performed.
PART 4
O RBITAL CELLULITIS 121
O PHTHALMO LO GY
A B
FIGURE 18-4 A. Le ft lowe r e ye lid swe lling and e d e ma in a 9-ye ar-old g irl. B. CT scan re ve ale d orb ital ce llulitis with a sub p e rioste al
ab sce ss (arrow) and e xte nsive le ft-sid e d e thmoid al sinusitis. (Use d with p e rmission from Camille Sab e lla, MD.)
IMAGING
-
rm the diagnosis of orbital cellulitis. entity.
lashes or the eyelid glands, usually does not lead to signi cant
orbital cellulitis (Figures 18-1 and 18-4). swelling (see Chapter 10, Hordeolum and Chalazion).
abscess (Figure 18-4).

-
MANAGEMENT
break in the integrity of the lamina papyracea is often appreciated MEDICATIO NS

(Figures 18-1 and 18-4). -
cally treated with broad spectrum parenteral antibiotics aimed at
the most likely pathogens, based on the most likely mechanism of
DIFFERENTIAL DIAGNO SIS infection.
is often combined with an antistaphylococcal agent such as clinda-

septum, and can usually be distinguished from orbital cellulitis by mycin when the process is secondary to sinusitis. 1,3,7 SO R
the absence of proptosis and ophthalmoplegia (see Chapter 17,
Preseptal (Periorbital) Cellulitis). prevalence and epidemiology. 6,8 SO R
-
from the history.
- situations, vancomycin is often combined with an antipseudomonal
tus, and the absence of fever and systemic signs of infection. agent such as ceftazidime and/ or gentamicin. SO R
-
guished clinically and by history. results and susceptibilities are available.
PART 4
122 CHAPTER 18
O PHTHALMO LO GY
PATIENT EDUCATIO N
completing therapy with oral antibiotics may be appropriate. The
usual duration is 2 to 3 weeks, depending on the clinical
response. 1,3,6,7 SO R when associated with fever, impaired vision, or bulging of the eye,
need immediate medical attention.
SURGERY and/ or prolonged nasal congestion and cough, should be evaluated

by their primary care physician.
-
teal abscess, or in cases where there is a poor initial response to PATIENT RESO URCES
intravenous broad- spectrum antibiotics. 1,3,7 SO R Orbital Cellulitis—www.uptodate.com/ contents/
orbital-cellulitis-the-basics?source=search_result&sea
cases. 6 SO R rch=orbital+cellulitis&selectedTitle=3 24.
- Orbital Cellulitis—www.ncbi.nlm.nih.gov/
gery should be sent for gram stain and culture to help guide antimi- pubmedhealth/ PMH0002007.
crobial therapy.
REFERRAL Periorbital and Orbital Cellulitis—http:// pedsinreview

.aappublications.org/ content/ 31/ 6/ 242.extract.
often collaborate in cases of orbital cellulitis to determine optimal Orbital Cellulitis—http:// emedicine.medscape.com/
management. article/ 1217858.
REFERENCES
PRO GNO SIS Pediat-
rics in Review.
antibiotic therapy and appropriate surgical intervention, when

septal peri-orbital infections are different diseases. A retrospective
needed.
review of 262 cases. Int J Pediatr Otorhinolaryngol
-
extension, cavernous sinus thrombosis, or vision loss, have a more
Pediatrics.
guarded prognosis. 1,7
FO LLO W-UP J Laryngol Otol

-
assess for the possible need for surgical intervention are vaccination. Ophthalmology
important. Current Opinion in Ophthalmology.
-
is slow. tis in children. Pediatr Infect Dis J
patients after recovery of the orbital process. pediatric orbital cellulitis. Am J Ophthalmol
PART 4
EYE TRAUMA—HYPHEMA 123
O PHTHALMO LO GY
19 EYE TRAUMA—HYPHEMA ETIO LO GY AND PATHO PHYSIO LO GY

within the anterior chamber.
PATIENT STO RY
A 14-year-old boy was hit in the eye with a baseball and presented distorting the normal architecture.
to the emergency department with eye pain, redness, and decreased
visual acuity. There was a collection of blood in his anterior
ciliary body to move posteriorly, thus disrupting the vascularization
chamber (Figure 19-1) and he was diagnosed with a hyphema.
with resultant bleeding.
He was given an eye shield for protection, advised to take acetamin-
ophen for pain, and counseled not to engage in sporting activities
until his hyphema resolved. He was referred urgently to ophthal- pressure is high enough to compress the bleeding vessels.
mology and the eye was otherwise healthy. His hyphema resolved
in 5 days. eventually broken down by the brinolytic system and cleared
through the trabecular meshwork.
INTRO DUCTIO N DIAGNO SIS

Hyphema, blood in the anterior chamber, can be seen following eye
The diagnosis of hyphema is clinical, depending on the classic appear-
trauma or as a result of clotting disturbances, vascular abnormalities, or
ance of blood layering in the anterior chamber.
mass effects from neoplasms. Traumatic hyphema occurs more often in
boys and men, often related to work or sports. Hyphema typically
resolves in 5 to 7 days, but some cases are complicated by rebleeding. CLINICAL FEATURES
History and physical:
EPIDEMIO LO GY
US. 1
Sports with
- anterior chamber:1
~
ketball, soccer, shing, ice hockey, racquet sports, fencing,
Figure 19-1
~
hyphemas.
~
14 percent of all hyphemas.

~
hyphemas.
Figures 19-2 and 19-3) can lead to
the normal architecture, including globe rupture.

(INCLUDE ANCILLARY TESTING, TO O )
prothrombin and partial thromboplastin time, and liver tests.
FIGURE 19-1 Laye ring of re d b lood ce lls in the ante rior chamb e r fol- IMAGING
lowing b lunt trauma. This g rad e 1 hyp he ma has b lood lling in le ss
than 1/3 of the ante rior chamb e r. (Use d with p e rmission from Paul D.
Come au.) orbital fracture or concern for orbital or intraocular foreign body.
PART 4
124 CHAPTER 19
O PHTHALMO LO GY
sudden, blurry vision.
yellow papules and nodules in the eyes, skin, and viscera, most
often present by 1 year of age.
MANAGEMENT
-
tect the eye and decrease complications, including rebleeding.
FIGURE 19-2 This young p atie nt was hit in the e ye with the corne r
of a laminate d name card . The sharp e d g e p e rforate d the corne a
and p ulle d a p ortion of the iris out of the wound . Note the ab normal rupture.
con g uration of the p up il (d ysco ria). No hyp he ma note d . This p atie nt
re q uire d e me rg e nt surg ical re p air. (Re p rinte d with p e rmission from A recent Cochrane review evaluated these interventions: anti -
Lo MW, Chal n S. Re trob ulb ar ane sthe sia for re p air of rup ture d g lob e s.
Am J O p hthalmol. 1997;123(6):833–835. Photo b y Paul D. Come au.)
brino-lytic agents, corticosteroids, cycloplegics, miotics, aspirin,

resolution of the primary hyphema.
-
caused by any of the following: methylbenzoic acid reduced the rate of secondary hemorrhage.
child abuse). NO NPHARMACO LO GIC
disorder, little or no trauma, and black race (increased incidence of

sickle trait and disease).
as part of a comprehensive treatment plan. 1 SO R
warfarin and little or no trauma.
MEDICATIO NS
of other ocular disease (central retinal vein occlusion), or history

following has been demonstrated to lower the risk of rebleeding in
randomized-controlled trials:
~
4 SO R
as effective as oral. 4 SO R
~
higher rates of rebleeding.

~ Use acetaminophen, if needed, for pain.
REFERRAL O R HO SPITALIZATIO N
pupil), require immediate surgical evaluation and repair (see

Figure 19-2).
FIGURE 19-3 Sub conjunctival he morrhag e and e ye lid e cchymosis fol-

lowing accid e ntal trauma. The re was no hyp he ma p re se nt. (Use d with persistent total hyphema or prolonged elevated intraocular
p e rmission from Richard P. Usatine , MD.) pressure.
PART 4
EYE TRAUMA—HYPHEMA 125
O PHTHALMO LO GY
ophthalmologist for increased pressure and glaucomatous nerve

parents are likely to be able to follow treatment plan. 4,5 SO R changes.
PATIENT RESO URCES

PREVENTIO N
www.nei.nih.gov/ sports.
appropriate eyewear. 6
www.lexeye.com.
PRO GNO SIS PRO VIDER RESO URCES
www.sportseyeinjuries.com.
1
REFERENCES
FO LLO W-UP 1. Sheppard J. Hyphema. Medscape Reference.
-
Ophthalmology
be followed subsequently for signs of angle recession and high intraocu-
lar pressure, which predisposes the patient to traumatic glaucoma, an
for traumatic hyphema. Cochrane Database Syst Rev.
insidious cause of blindness in patients with a history of trauma.
-
PATIENT EDUCATIO N matic hyphema. Surv Ophthalmol
-
or peripheral anterior synechiae, corneal bloodstaining, glaucoma, J AAPOS

-
ment for glaucoma. based approach. Sports Med.
-
7,
children: risk factors for complications. Arch Ophthalmol.
4 hyphema, and patients with high initial intraocular pressure.
causes of the hyphema. This will predispose the patient to a lifetime hyphema in an urban population. Am J Ophthalmol.
risk of traumatic glaucoma, which can cause blindness without any
symptoms. These patients need to be monitored regularly by an
PART 5
EAR, NO SE,
AND THRO AT
St re ng t h o f
(SO R) De nit io n

PART 5
128 CHAPTER 20
SECTIO N 1 EAR
20 PREAURICULAR TAGS EPIDEMIO LO GY

Lind a Fre nch, MD
-
dilection for gender or race.
PATIENT STO RY of abnormalities, often involving the renal system. Children have a
A 7-year-old boy comes into the of ce with his mother with com-
plaint of a eshy growth in front of his left ear (Figure 20-1). It has
been present since birth. He passed his newborn hearing screen and
the parents were told that it was nothing to worry about. Recently,
other children have teased him about it and mom inquires about
limbal dermoids of the eye and eyelid colobomas (see Chapter 34,
having it removed. He has no other congenital abnormalities evident
Congenital Anomalies of the Head and Neck).
to date and no chronic medical problems.

INTRO DUCTIO N 3
Preauricular tags are benign congenital abnormalities consisting of

epithelial mounds or pedunculated skin located near the front of the
ear that can be associated with other conditions. hillocks between the rst four clefts eventually form the structure
of the outer ear. Preauricular tags are generally minor malforma-
tions arising from remnants of supernumerary branchial hillocks. 4
DIAGNO SIS
CLINICAL FEATURES O F PREAURICULAR TAGS

Figures 20-1 to 20-5).
Figures 20-2,
20-4, and 20-5).
TYPICAL DISTRIBUTIO N
on the left.
BIO PSY
ear tags are an isolated anomaly or part of a syndrome involving
FIGURE 20-1 A p re auricular skin tag in a 7-ye ar-old b oy. (Use d with whether children with ear tags who otherwise appear to be healthy
p e rmission from Richard P. Usatine , MD.) should be evaluated with renal ultrasound. 4,
PART 5
PREAURICULAR TAGS 129
FIGURE 20-2 Two p re auricular tag s in a yo ung b lack g irl. (Use d with FIGURE 20-4 Two p re auricular tag s in a 4-ye ar-old g irl. (Use d with
p e rmission from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
FIGURE 20-5 Two p re auricular tag s in a young b oy. The lowe r p re au-
FIGURE 20-3 Pre auricular tag in a 1-ye ar-old boy. (Used with p e rmission ricular tag may be considered an accessory tragus. (Used with permission
from Richard P. Usatine , MD.) from Richard P. Usatine , MD.)
PART 5
130 CHAPTER 20
REFERENCES
Figure 20-5 may be considered an accessory tragus. tags and ear pits are associated with permanent hearing impair-
ment in newborns. Pediatrics.
MANAGEMENT
Ear Hear
PATIENT RESO URCES

http:// nlm.nih.gov/ medlineplus/
ency/ article/ 003304.htm.
with isolated minor ear abnormalities. Arch Dis Child Fetal Neonatal
PRO VIDER RESO URCES Ed.
http:// emedicine.medscape.com/ -
article/ 845288. malities in infants with isolated preauricular tags. Pediatrics.
PART 5
O TITIS EXTERNA 131
21 O TITIS EXTERNA SYNO NYMS

Brian Z. Rayala, MD
Swimmer’s ear.
EPIDEMIO LO GY
PATIENT STO RY
An 11-year-old girl with a history of psoriasis presented to her pedia- estimated at 10 percent in one study. 2
trician with a 2-day history of ear pain and drainage from her right ear
canal. On physical examination, she is well appearing and afebrile.
She has exquisite pain on movement of her right pinna and dried
drainage visible at the opening of her external auditory canal (EAC).
Her EAC is erythematous and mildly edematous, but the tympanic
membrane is visualized and appears normal. She also has psoriatic
lesions around her ear and scalp as currently her psoriasis is not under
control (Figure 21-1). The pediatrician makes the diagnosis of otitis
aerobic organisms predominantly (P. aeruginosa and Staphylococcus
externa and prescribes once daily o oxacin drops for 7 days. The girl
aureus) and, to a lesser extent, anaerobes (Bacteroides and Peptostrepto-
has a prompt response and recovers completely.
coccus). Up to 1/ 3 of infections are polymicrobial. A small propor-
tion (2% to 10%) of OE is caused by fungal overgrowth (e.g., Asper-
gillus niger usually occurs with prolonged antibiotic use). 1
INTRO DUCTIO N
~ Trauma, the usual inciting event, leads to breach in the integrity
Otitis externa (OE) is common in all parts of the world. OE is of EAC skin.
de ned as in ammation, often with infection, of the EAC. 1 ~ Skin in ammation and edema ensue, which, in turn, leads to pru-
ritus and obstruction of adnexal structures (e.g., cerumen
glands, sebaceous glands, and hair follicles).
~
~ Consequently, the milieu of the EAC is altered (i.e., change in

quality and quantity of cerumen, increase in pH of EAC, and
dysfunctional epithelial migration).
~ Finally, the EAC becomes a warm, alkaline, and moist
environment—ideal for growth of different pathogens.
RISK FACTO RS3
~ Moisture—Macerates skin of EAC, increases pH, and washes

away protective cerumen layer (e.g., swimming, sweating,
humid environments).
~ -
nails, hearing aids, ear plugs, paper clips, match sticks, mechanical
removal of cerumen).
~ Warm environments.
~ Anatomical—Buildup of wax and debris that lead to retained

moisture (e.g., a narrow ear canal, hairy ear canal).
~
(results in disappearance of the protective layer and retained

moisture, respectively).
~ Chronic skin disorder—for example seborrheic dermatitis, pso-
FIGURE 21-1 Drie d d rainag e at the op e ning of the e xte rnal e ar canal riasis, atopic dermatitis (Figures 21-1 and 21-2).
in a g irl with otitis e xte rna. Note the p soriatic le sions, which p re d is- ~
p ose d this g irl to otitis e xte rna. (Use d with p e rmission from Richard P.
Usatine , MD.) diabetes, neutropenia.
PART 5
132 CHAPTER 21
FIGURE 21-3 Purule nt otorrhe a in a child with otitis e xte rna. (Use d
FIGURE 21-2 Se b orrhe ic d e rmatitis causing e rythe ma and g re asy with p e rmission from Strang e GR, Ahre ns WR, Schafe rme ye r RW,
scale of the e xte rnal e ar and e ar canal. The se b orrhe ic d e rmatitis itse lf Wie b e RA. Pe d iatric Eme rg e ncy Me d icine , 3rd e d ition:
cause s b re aks in the skin and the coe xisting p ruritus may le ad the http ://www.acce sse me rg e ncyme d icine .com.)
p atie nt to d amag e the ir own e ar canal. All this can b e come se cond arily
infe cte d . (Use d with p e rmission from Eric Kraus, MD.)
DIAGNO SIS
CLINICAL FEATURES
Figures
21-1 to 21-3). The latter is known as “diffuse OE,” or simply OE.
Seborrheic dermatitis of the external ear and EAC can be diffuse or
generalized (Figures 21-1 and 21-2).
1
~ Figures 21-3 and 21-4).

~ Chronic (> 3 months)—May cause hearing loss and stenosis of
the EAC (Figure 21-5).
~
temporal bone, usually in diabetics or immunocompromised

Figure 21-6).
~ Otalgia, including pruritus.

~ Otorrhea (Figures 21-3 to 21-5).
~ Mild hearing loss.
~ -
FIGURE 21-4 Acute otitis e xte rna showing p urule nt d ischarg e and
~ Signs of EAC in ammation (edema, erythema, aural discharge) narrowing of the e ar canal. (Use d with p e rmission from Roy F. Sullivan,
(Figures 21-3 to 21-5). PhD. Aud iolog y Forum: Vid e o O toscop y, www.rcsullivan.com.)
PART 5
O TITIS EXTERNA 133
~ Fever, periauricular erythema, and lymphadenopathy point to

severe disease.
~ Complete obstruction of EAC occurs in advanced OE.
direct visualization) and the absence of middle-ear effusion

(through pneumatic otoscopy) is crucial in differentiating OE from
other diagnoses (e.g., suppurative otitis media, cholesteatoma).
LABO RATO RY AND IMAGING
a limited role. When a patient fails to respond to empiric treat-

ment, obtaining a culture of aural discharge may help guide choice
of treatment (antibacterial versus antifungal agents).
skull base is warranted.
history reveals a chronically draining ear and recurrent middle-ear

infections with or without hearing loss (Figure 21-5). At times, it
is dif cult to differentiate this from otitis externa because of edema
-
FIGURE 21-5 Chronic sup p urative otitis me d ia with p urule nt d ischarg e sary in ensuring the integrity of the tympanic membrane.
chronically d raining from the e ar of this young man. This imag e could
b e se e n in acute otitis me d ia with p e rforation of the tymp anic me m-
b rane or in a p urule nt otitis e xte rna. (Use d with p e rmission from to in ammation and breaks in the skin (Figures 21-1 and 21-2).
A B
FIGURE 21-6 A. Malig nant/ne crotizing otitis e xte rna in a young woman with d iab e te s. Note the swe lling and
hone y-crusts of the p inna. The e xte rnal aud itory canal and te mp oral b one we re involve d . B. Poste rior vie w of the
swolle n and infe cte d e ar. (Use d with p e rmission from E.J. Maye aux, MD.)
PART 5
134 CHAPTER 21
The coexisting pruritus can lead the patient to damage their own
ear canal. This can all become secondarily infected. topical antibiotic-steroid medications. The typical duration of ther-
apy is 7 to 10 days. Since this standard approach may overtreat
drainage from the canal in the setting of ear pain and clinical signs some patients and undertreat others, a good rule-of-thumb is to
instruct patients to use antibiotic-steroid drops for a minimum of
will be red with a perforation. 1 week and to extend therapy, up to a maximum of 1 extra week,
until resolution of symptoms. 3 SO R
con rms presence of foreign body (that incites an in ammatory
is not supported by evidence. 1 SO R
Foreign Body).
involves surgical debridement to remove necrotic tissue and intra-
venous antibiotics directed toward coverage of Paeruginosa and S
organisms have a characteristic appearance in the EAC. aureus initially. An antipseudomonal agent such as pipercillin-
tazobactam, ceftazidime, or ce pime, is often combined with gen-
tamicin to treat Paeruginosa, and vancomcyin is used initially to
cover S aureus. SO R
clinical features include pruritus, erythema of conchal bowl,
the time of surgical debridement can guide subsequent therapy.
crusting, and excoriations.
PREVENTIO N
MANAGEMENT
NO NPHARMACO LO GIC corticosteroids, or water exclusion) have not been evaluated in

3 SO R
clinical trials. 1 SO R
-
scope to mechanically remove material from external canal) for
treating OE is unknown. 1 SO R PRO GNO SIS
MEDICATIO NS
The clinician should recommend analgesic treatment based on the FO LLO W-UP
pain severity. SO R
Additional oral antibiotics are not required. 3 SO R hours, the clinician should reassess the patient to con rm the diag-
nosis of OE and to exclude other causes of illness. SO R
drops for acute OE. 3 SO R
failed their initial therapy and should be considered for alternative
choosing the appropriate treatment is in uenced by other factors therapy. 3 SO R
including cost, availability, dosing frequency, risk of ototoxicity,
risk of contact sensitivity, and risk of developing resistance. 3 SO R
~ Evidence from one trial of low quality found no difference in
PATIENT EDUCATIO N
clinical ef cacy between quinolone and nonquinolone drops. 5
Quinolones are more expensive than nonquinolones. 3 SO R
~ Topical mixtures of antibiotics and steroids may reduce swelling,
~
redness, drainage, and use of pain medications compared to ear canal.

preparations without steroids. High-potency steroids may be ~ Avoid frequent washing of the ears with soap as this leaves an
more effective in treating pain, in ammation and swelling than alkali residue that neutralizes the normal acidic pH of the ear
low-potency steroids. 3 SO R canal.
~ Acetic acid appears to be as effective as an antibiotic-steroid topi-
~ Avoid swimming in polluted water.
~ Ensure that the canals are emptied of water after swimming or
extended therapy (> 1 week). However, acetic acid was less bathing—This can be done by turning the head or holding a facial
effective and required a longer duration of treatment (i.e., tissue on the outside of the ear to act as a wick.
2 extra days). 3 SO R -
~ Topical aluminum acetate may be comparable to topical
antibiotic-steroid medications in terms of cure rates for acute can be used after each episode of swimming to assist in drying and
OE. 1 SO R acidifying the ear canal. 5 SO R
PART 5
O TITIS EXTERNA 135
REFERENCES
trauma to the ear canal leading to OE. 5 Clin Evid (Online).
PATIENT RESO URCES

www.familydoctor.org/ online/ famdocen/ home/ otitis externa in an ENT casualty clinic. J Laryngol Otol.
common/ ear/ 657.html. 130-133.
www.healthychildren.org/ English/ health-issues/
conditions/ ear-nose-throat/ Pages/ Swimmers-Ear-in- externa. Cochrane Database Syst Rev.
Children.aspx.
of Otolaryngology—Head and Neck Surgery Foundation. Clinical
PRO VIDER RESO URCES Otolaryngol Head Neck Surg.
www.emedicine.medscape.com/ article/ 84923
www.emedicine.medscape.com/ article/ 763918
PART 5
136 CHAPTER 22
22 O TITIS MEDIA—ACUTE
O TITIS AND O TITIS MEDIA
WITH EFFUSIO N
Brian Z. Rayala, MD
PATIENT STO RY
A 15-month-old boy is brought by both parents to his pediatrician with

a 2-day history of fever, irritability, and frequent tugging of his left ear.
This was preceded by a 1-week history of nasal congestion, cough, and
rhinorrhea. On otoscopy, his left tympanic membrane (TM) appears
erythematous, cloudy, bulging, and exudative (Figure 22-1). His left
TM fails to move on pneumatic otoscopy. The physician diagnoses
acute otitis media and decides with the parents to prescribe a 10-day
course of amoxicillin; the child recovers uneventfully.
In follow-up 2 months later, the child appears healthy and is meeting
all his developmental milestones. On otoscopic examination, air– uid
FIGURE 22-2 Otitis media with effusion (OME) in the rig ht ear. Note
levels are seen in the right ear (Figure 22-2). The physician explains multip le air– uid levels in this slightly retracted, translucent, nonerythem-
the diagnosis of otitis media with effusion to the parents and arranges atous tympanic membrane. (Used with p ermission from Frank Miller, MD.)
follow-up. Three months later the effusion is completely resolved.
EPIDEMIO LO GY
INTRO DUCTIO N
-
Acute otitis media (AOM) is the most common diagnosis for acute ture in 2000; more than 40 percent was incurred for children
of ce visits for children. 1 AOM is characterized by middle-ear between 1 and 3 years of age. 1
effusion in a patient with signs and symptoms of acute illness (e.g.,
fever, irritability, otalgia). Otitis media with effusion (OME) is a
disorder characterized by uid in the middle ear in a patient without develop AOM by 2 to 3 years of age. 2,3
signs and symptoms of acute ear infection; it is also very common 2,3
in childhood.
4
that 30 percent of all antibiotics prescribed for children younger

5
months and 4 years.
AOM is often preceded by upper respiratory symptoms such as cough

and rhinorrhea.
7
~ Eustachian tube dysfunction (usually a result of an upper

FIGURE 22-1 Acute otitis me d ia in the le ft e ar of a 15-month-old respiratory infection) and subsequent tube obstruction.
p atie nt with marke d e rythe ma and b ulg ing of the tymp anic me mb rane .
The malle us and lig ht re e x are not visib le . (Use d with p e rmission from
~ Increased negative pressure in the middle ear.
William Clark, MD.) ~ Accumulation of middle-ear uid.
O TITIS MEDIA—ACUTE O TITIS PART 5
AND O TITIS MEDIA WITH EFFUSIO N 137
~ Microbial growth.
~
~ Streptococcus pneumoniae not in the heptavalent pneumo-
2000).
~ Nonencapsulated (nontypeable) Haemophilus in uenzae (NTHi).
~ Moraxella catarrhalis.
~ Staphylococcus aureus.
viruses, rhinoviruses, in uenza viruses, and adenoviruses have been

the most common isolated viruses. 10
OME most commonly follows AOM; it may also occur spontaneously.
decreased hearing.
although potential etiologies include allergies, bio lm, and

physiologic features.
middle ear and is a distinct subtype of OME. FIGURE 22-3 O titis me d ia with e ffusion in the le ft e ar showing re trac-
tion of the tymp anic me mb rane (TM) and straig hte ning of the hand le
of the malle us as the re traction p ulls the b one up ward . (Use d with p e r-
mission from Gle n Me d e llin, MD.)
RISK FACTO RS
I Mild bulging of the TM and recent onset (≤

attendance at a child care center. pain or intense erythema of the TM (Figure 22-1) in contrast
11
to the normal TM (Figure 22-5).
~ White race. ~ The presence of MEE. Although MEE is often presumed by
~ Male gender. bulging of the TM (Figure 22-1) or air– uid level behind the
~ History of enlarged adenoids, tonsillitis, or asthma. TM (Figure 22-2), guidelines stress the use of objective
~ Multiple previous episodes.
~ Bottle feeding. ~ Limited or absent mobility of the TM established by pneumatic
~ History of ear infections in parents or siblings. otoscopy—The TM does not move during air insuf ation;
~
often initially seen as retraction of the TM (Figures 22-3
and 22-4).
~ Tympanometry demonstrating reduced or at waveforms.
of siblings, low socioeconomic group, frequent upper respiratory
CLINICAL FEATURES O F O ME
tract infection, tobacco exposure, daycare attendance, and bottle
feeding. 12
is mild hearing loss. This is usually identi ed when parents express
concern regarding their child’s behavior, performance at school, or
language development. 12
DIAGNO SIS -
ating OME from AOM.
CLINICAL FEATURES O F AO M
~ Air– uid level or bubble (Figure 22-2).
otoscopy, verify the acuteness of symptoms, and identify objective ~ Figures 22-4 and 22-6) in contrast to the normal
signs of middle-ear effusion (MEE) using pneumatic otoscopy and/ TM (Figure 22-5).
or tympanometry. ,13 SO R ~
,13 with OME.

~
I Moderate to severe bulging of the TM or new otorrhea not method for OME. 14 SO R
attributable to acute otitis externa. ~ Impaired mobility of the TM is the hallmark of MEE.
PART 5
138 CHAPTER 22
Pa rs fla ccida
La te ra l proce s s of ma lle us
Pa rs te ns a
Ma nubrium of ma lle us
FIGURE 22-4 Early acute otitis me d ia at the stag e of e ustachian tub e Round window
ob struction. Note the slig ht re traction of the tymp anic me mb rane (TM),
the more horizontal p osition of the malle us, and the p romine nce of the
late ral p roce ss. (Use d with p e rmission from William Clark, MD.) Light re flex
A
~ According to a metaanalysis, impaired mobility on pneumatic
- Ova l window
14
lihood ratio of 0.075.
Attic
LABO RATO RY TESTS AND IMAGING (Epitympa num)
has a limited role. When clinical presentation and physical

examination (including otoscopy) do not establish the diagnosis, the
Round window
niche
P romontory
(Ba s a l turn
of cochle a )
B Eus ta chia n tube
FIGURE 22-6 A. Normal rig ht tymp anic me mb rane with comp arison
using . B. Normal b ony land marks of the inne r e ar. The ossicle s we re
removed in this dissection. (Used with permission from William Clark, MD.)
~ Tympanometry—This procedure records compliance of the TM

by measuring re ected sound. AOM and OME will plot as a
reduced or at waveform. This technique requires patient coop-
eration but provides more objective data.
FIGURE 22-5 Acute otitis media, stage of sup puration. Note presence ~ Acoustic re ectometry—This procedure, very similar to
of purulent exudate behind the tympanic membrane (TM), the outward tympanometry, measures sound re ectivity from the middle ear.
bulging of the TM, prominence of the posterosuperior portion of the
drum, and generalized TM edema. The white area is tympanosclerosis With this test, the clinician is able to distinguish air- or uid-
from a p revious infection. (Used with p ermission from William Clark, MD.) lled space without requiring an airtight seal of the ear canal.
be warranted if patient is toxic, immunocompromised, or has

failed prior courses of antibiotics.
The key differentiating feature between AOM and OME is the

absence of signs and symptoms of acute illness in OME (e.g., fever,
irritability, otalgia). Otoscopic ndings may be similar. Other clinical
mild hearing loss, all of which can be present in AOM. Tragal pain
on physical exam and signs of external canal in ammation on
tolerated may be helpful to visualize the TM to differentiate otitis
historical features include recent air travel, scuba diving, or ear

trauma, preceded by an upper respiratory infection.
cavity (on otoscopy) is diagnostic (Figures 22-7 and 22-8).
FIGURE 22-8 Primary acq uire d chole ste atoma with d e b ris re move d
from the attic re traction p ocke t. (Use d with p e rmission from William
Clark, MD.)
or mycoplasma infection as well as usual AOM pathogens; in approx-
imately 1/ 3 of patients, there is a component of sensorineural hear-
ing loss. Otoscopy shows serous- lled bulla on the surface of the TM
(Figure 22-9
perforation and otorrhea; history reveals a chronically draining ear structures (e.g., teeth, jaw, cervical spine, lymph and salivary glands,
and recurrent middle-ear infections with or without hearing loss. nose and sinuses, tonsils, tongue, pharynx, meninges).
FIGURE 22-9 Bullous myring itis can b e d iffe re ntiate d from otitis
me d ia with e ffusion b y id e ntifying se rous- lle d b ulla on the surface of
FIGURE 22-7 Chole ste atoma. (Use d with p e rmission from Vlad imir the tymp anic me mb rane (TM). (Use d with p e rmission from Vlad imir
Zlinsky, MD, in Roy F. Sullivan, PhD. Aud iolog y Forum: Vid e o O toscop y, Zlinsky, MD, in Roy F. Sullivan, PhD. Aud iolog y Forum: Vid e o O toscop y,
www.rcsullivan.com.) www.rcsullivan.com.)
PART 5
140 CHAPTER 22
FIGURE 22-11 Traumatic p e rforation of the le ft tymp anic me mb rane .

(Use d with p e rmission from William Clark, MD.)
A
MANAGEMENT
NO NPHARMACO LO GIC
Management of OME primarily consists of watchful waiting.
Most cases resolve spontaneously within 3 months; only 5 percent
to 10 percent last 1 year or longer. Treatment depends on duration
and associated conditions. The following options should be
severity of associated symptoms at each assessment of the child

with OME. SO R
or learning problems from other children with OME and more

promptly evaluate hearing, speech, language, and need for
intervention in children at risk. SO R
B ~ Autism-spectrum disorder and other pervasive developmental

disorders.
FIGURE 22-10 A. Mastoid itis in a young b o y with re curre nt otitis ~
me d ia. Note the e rythe ma and swe lling b e hind the e ar. The e ar is stick-
ing out more than the othe r sid e . B. Surg ical d rainag e was p e rforme d .
include cognitive, speech, and language delays.
(Use d with p e rmission from William Clark, MD.) ~ Blindness or uncorrectable visual impairment.
~
by the presence of increasing pain, erythema, and tenderness over

mastoid bone in a patient with AOM who has not been treated for 3 months from the date of effusion onset (if known) or diagnosis
with antibiotics or recurrence of mastoid pain and tenderness in (if onset is unknown). SO R
fever as well as progressive otorrhea are other historical clues. 3 months or longer or at any time if language delay, learning
The mastoid swelling can cause the pinna to protrude further than problems, or signi cant hearing loss is suspected in a child with
normal (Figure 22-10). OME. SO R
Figure 22-11)—A hole in the
TM is seen without purulent drainage. increasing intranasal pressure may have some short-term bene ts for
restoring hearing in patients with OME. These methods include CO MPLEMENTARY AND ALTERNATIVE THERAPY
forced exhalation through closed nose and mouth (which may be -
impractical for young children), in atable intranasal balloon, or an mentation to prevent otitis media in young, healthy children in
anesthetic mask. Acute side effects are rare and the cost is not pro- developing countries. 24 SO R
hibitive; however, long-term adverse effects are unknown. 12 SOR
REFERRAL
MEDICATIO NS
SO R
earache when given with antibiotics. Anesthetic ear drops (e.g., ~
amethocaine, benzocaine, or lidocaine) can be effective in reducing ~ Associated speech delay.

~
oral analgesics. 17 SO R
23 months with bilateral AOM, otorrhea, or severe signs and AOM in 1 year) diminish AOM recurrences for up to six months.
symptoms (e.g., moderate to severe otalgia, persistent otalgia Because long-term effectiveness is uncertain, clinicians should
° ° weigh this immediate bene t alongside potential adverse outcomes
from the surgery. 25 SO R
an observational policy based on shared decision-making seems
justified. 13,15, SO R
middle-ear infection does not improve cognitive development,
language acquisition, or speech development compared with wait-
but increase the risk of adverse effects, including diarrhea, vomiting,
and rash. SO R tubes. Moreover, delayed insertion of tubes helps children avoid
~ Antibiotics seem to reduce pain at 2 to 7 days, and may prevent
getting tubes altogether and does not result in worse developmental
development of contralateral AOM, but increase the risks of outcomes. 27 SO R
adverse effects compared with placebo. 14
~ There is insuf cient effectiveness data regarding which antibiotic
insertion is the preferred initial procedure; adenoidectomy should
regimen is better than another. 14,
~ Antibiotics found to be effective in AOM include amoxicillin,
not be performed unless a distinct indication exists (e.g., nasal
obstruction or chronic adenoiditis). SO R
amoxicillin-clavulanic acid, and cephalosporins. Amoxicillin is
a good rst-line treatment because it is inexpensive and chil-
dren tolerate the bubblegum taste well. 13 or without tube insertion. Tonsillectomy alone or myringotomy
~ alone should not be used to treat OME. SO R
30 days, or with superimposed conjunctivitis suggestive of H. in uen-
zae, or who previously failed amoxicillin in the setting of recurrent
AOM, adding beta-lactamase coverage is recommended (e.g., PREVENTIO N
amoxicillin-clavulanate). Alternative treatment for non-anaphylactic
penicillin-allergic patients include 2nd-generation (e.g., cefuroxime)
and 3rd generation cephalosporins (e.g., cefdinir, cefpodoxime, or
ceftriaxone).13 to 7 percent reduction in incidence of AOM was justi able from a
~ public health perspective considering the signi cant disease burden.
treatment failure but have no long-term bene ts compared with
shorter regimens (5-day courses). , children with prior history of AOM. SO R
~ An observational approach substantially reduces unnecessary use
of antibiotics in children with AOM and may be an alternative to
routine use of antimicrobials for treatment of such children. 20 its recent licensure and use.
-
may reduce the duration of symptoms of AOM, but increases the orous systematic reviews are needed to evaluate the magnitude of
risk of vomiting, diarrhea, and rash compared with delayed treat- this effect. 13 SO R
ment (i.e., given after 72 hours). SO R
recommended. 21 SO R from 3 to 1.5 episodes per year. This bene t needs to be balanced
against the potential side effects and the risks of antibiotic resis-
tance. SO R This practice is no longer considered routine.
5 years. 22 SO R
5 times daily among healthy children at daycare centers can prevent
,23 SO R
recommended for OME. AOM recurrence by 25 percent. However, the safety of giving a
PART 5
142 CHAPTER 22
FIGURE 22-13 Tymp ano scle rosis as the re sult of p re vious re curre nt
e p isod e s of otitis me d ia and p olye thyle ne (PE) tub e p lace me nt.
(Use d with p e rmission from Gle n Me d e llin, MD.)
-
otics are withheld is 0.13 percent. 31
5 percent to 10 percent last 1 year or longer. However, effusion

will recur in 30 percent to 40 percent of patients.
FO LLO W-UP
B
patient to con rm AOM and exclude other causes of illness. If AOM
FIGURE 22-12 A. Le ft tymp anic me mb rane (TM) of a 9-ye ar-old g irl
is con rmed in a patient initially managed with observation, the
with re curre nt acute otitis me d ia and chronic TM re tractions p rior to clinician should begin antibiotics. If the patient was initially managed
p olye thyle ne (PE) tub e p lace me nt. The circular are a ne ar the ce nte r of with antibiotics, the clinician should change antibiotics. SOR
the TM is cause d b y the TM b e ing re tracte d ag ainst the p romo ntory of
the me d ial wall of the mid d le e ar. B. A uorop lastic p olye thyle ne (PE)
tub e is p lace d in the ante rior-infe rior q uad rant of the TM of a 9-ye ar- facial nerve involvement, require urgent referral.
old g irl with re curre nt acute otitis me d ia. It is b lack b e cause it is
imp re g nate d with silve r oxid e to re tard the g rowth o f b acte rial micro-
lms. (Use d with p e rmission from William Clark, MD.) posttreatment follow-up of AOM or who should receive follow-up.
There is some evidence that parents can be reliable predictors in the
gum or lozenge to a young child, coupled with the compliance resolution or persistence of AOM following antibiotic treatment. 32
issues raised by its frequent administration, renders it an unrealistic
-
preventive option. 30 SO R
effusion is gone, signi cant hearing loss is identi ed, or structural
occurrence of AOM, hence should be encouraged. 13 SO R abnormalities of the eardrum or middle ear are suspected. SO R
of episodes of AOM but increase the risk of complications (i.e.,

tympanosclerosis; Figures 22-12 and 22-13). SO R PATIENT EDUCATIO N
PRO GNO SIS control of risk factors.
- resolution of AOM and potential adverse effects of antibiotics.

advising delay of initiation of medication (i.e., observational REFERENCES
treatment and is associated with lower antibiotic use. 20

medicaid cohort. Pediatrics.
spontaneous resolution.
~
important. a prospective, cohort study. J Infect Dis.

~ If MEE is persistent and signs and symptoms of hearing loss,
language dif culties, and learning problems arise, additional
treatment may be considered.
the rst two years of life. Pediatrics.
initial treatment for children with acute otitis media?A meta-

PATIENT RESO URCES
analysis. BMJ.
AOM
www.nlm.nih.gov/ medlineplus/ ency/ article/ 000638 prescribing for children with colds, upper respiratory tract
.htm. infections, and bronchitis. JAMA.
www.nidcd.nih.gov/ health/ hearing/
earinfections.
www.familydoctor.org/ online/ famdocen/ home/
common/ ear/ 055.html.
With Effusion. Pediatrics.
www.kidshealth.org/ PageManager.jsp?dn=
familydoctor&lic=44&article_set=22743.
media. Lancet.
www.nhs.uk/ conditions/ Otitis-media/ Pages/
Introduction.aspx.
otopathogens causing acute otitis media six to eight years after
OME
introduction of pneumococcal conjugate vaccine. Pediatr Infect
http:// familydoctor.org/ online/ famdocen/ home/ Dis J.
common/ ear/ 330.html.
http:// www.nlm.nih.gov/ medlineplus/ ency/ article/ nonsusceptible Streptococcus pneumoniae before and after the
007010.htm. introduction of the pneumococcal conjugate vaccine. Clin Infect
Dis.
AOM Pediatr
Infect Dis J.
Pediatrics.
Network. BMJ.
-
mittee on Management of Acute Otitis Media. Pediatrics.
and management of acute otitis media. Pediatrics. 2013;131;
http:// www
.bcguidelines.ca/ pdf/ otitaom.pdf.
OME the accuracy of methods of diagnosing middle ear effusion in
children with otitis media with effusion. Pediatrics.
American Academy of Otolaryngology-Head and Neck

you use antibiotics to treat acute otitis media in children? J Fam
Pediatrics. Pract.
Clin Evid
http:// www (Online)
.bcguidelines.ca/ pdf/ otitome.pdf.
acute otitis media. Cochrane Database Syst Rev
PART 5
144 CHAPTER 22
Lancet.
developmental outcomes at the age of four years. Pediatrics. 2003;
antibiotics for acute otitis media. Cochrane Database Syst Rev.

N Engl
J Med.
trial. JAMA.
for preventing otitis media. Cochrane Database Syst Rev.
acute otitis media in children. Cochrane Database Syst Rev.
chronic suppurative otitis media in children. Cochrane Database

otitis media with effusion (OME) in children. Cochrane Database Syst Rev.
Syst Rev
preventing acute otitis media in children up to 12 years of age.
nasal steroids for hearing loss associated with otitis media with Cochrane Database Syst Rev
effusion in children. Cochrane Database Syst Rev
Laryngoscope.
Parents Can Be Reliable Predictors in the Resolution or
media. Cochrane Database Syst Rev. Persistence of Acute Otitis Media Following AntibioticTreatment.
(ventilation tubes) for recurrent acute otitis media in children.

Cochrane Database Syst Rev.
PART 5
MASTO IDITIS 145
23 MASTO IDITIS EPIDEMIO LO GY

Samantha Anne , MD, MS
media. Thus, acute and coalescent mastoiditis occurs most fre-
quently in children less than 4 years of age. 2
PATIENT STO RY
signi cant percentage of cases of mastoiditis occur in young
A 12-month-old girl presents to your of ce with 1-day history of children who do not have a prior history of OM. 2
fever and increasing swelling and redness behind her left ear. On
examination, the left auricle is protruding and there is marked ery- thus it is dif cult to estimate the true incidence and whether the
thema, swelling, tenderness, and uctuance overlying the left mastoid incidence is increasing.
bone (Figure 23-1). Otoscopy reveals a purulent middle ear effu-
sion. A computed tomography (CT) scan of the temporal bones
media, chronic otorrhea thru tympanic membrane perforation,
reveals opaci cation of the mastoid air cells. A diagnosis of acute mas-
and/ or cholesteatoma. 1
toiditis is made and the girl undergoes urgent myringotomy and tym-
panostomy tube placement and mastoidectomy. Postoperatively, she
is treated with intravenous antibiotics and recovers completely. ETIO LO GY AND PATHO PHYSIO LO GY
INTRO DUCTIO N pneumatized mastoids with little or minimal prior history of otitis
media.
Mastoiditis is a complication of otitis media, characterized by a suppura-
tive infection of the mastoid air cells.1 Acute mastoiditis refers to the
immature immune systems. 2
nding of acute otitis media on otoscopy in conjunction with local in am-
matory ndings in the mastoid including erythema, edema, and auricular
protrusion, with duration of symptoms less than one month. Coalescent causes edema of the mucoperiosteal lining of the mastoid air cells
mastoiditis occurs when there is an acute otitis media which progresses and middle ear. This blocks the aditus of the mastoid and the Eusta-
into an acute infection of mastoid with osteolytic changes in the bone and chian tube thereby disrupting the normal aeration. 1,3 This leads to
destruction of the mastoid air cells. Chronic mastoiditis is de ned by the worsening purulence and in ammation and eventually develop-
presence of long-standing infection in the presence of tympanic mem- ment of localized acidosis and bony septa decalci cation. In addi-
brane perforation or tympanostomy tube or as a complication of choles- tion, osteoclastic activity cases further destruction of bony septa in
teatoma. Chronic mastoiditis follows an indolent course of infection. the mastoid causing eventual coalescence.
the infection progresses to either intracranial extension or thru

SYNO NYMS lateral cortical bone destruction into the neck and soft tissue
postauricularly.
Mastoid in ammation or Mastoid infection. -
toiditis include Streptococcus pneumoniae, Streptococcus pyogenes, Staph-
ylococcus aureus [including methicillin-resistant strains (MRSA)] and
rarely, Pseudomonas aeruginosa.
organism, has emerged as an important pathogen causing acute

mastoiditis. 4
P. aeruginosa,
S. aureus (including MRSA), Proteus sp., and anaerobes including
Peptostreptococcus, and Bacteroides.
RISK FACTO RS
mastoiditis.
FIGURE 23-1 12-month-old g irl with p rotrusion of the auricle and e ry- mastoiditis. 5
the ma and swe lling in the le ft mastoid are a. (Use d with p e rmission
from Johanna Gold farb , MD.)
PART 5
146 CHAPTER 23
DIAGNO SIS
characteristic clinical ndings. 6

-
priate clinical setting when osteolytic changes in the bone and
destruction of the mastoid air cells are present.
chronic suppurative process and evidence of in ammatory changes

in the mastoid.
CLINICAL FEATURES
the hallmarks of acute mastoiditis. 7

FIGURE 23-3 Picture of tymp anic me mb rane with p urulent e ffusion in a
Figure 23-2 - child ab out to und e rg o myring otomy with tub e p lace me nt with coales-
ment is usually downward and outward in young children and ce nt mastoid itis. (Use d with p ermission from Prashant Malhotra, MD.)
upward and outward in older children.
in directing the initial antimicrobial therapy and subsequent

follow-up.
Figure 23-3). 6
IMAGING
children who have classic clinical manifestations. However, imaging

with a left shift. 8
is helpful in cases that are not classic, and in assessing for coalescent
mastoiditis and other complication of acute mastoiditis. 11
although they may be normal early in the course and in cases of
chronic mastoiditis. ,10
patient with acute mastoiditis.
-
ism, but when positive is very helpful in the speci c bacteriologic
diagnosis.
mastoid air cells, cortical bone erosion, coalescence of air cells, and
post auricular uid collections (Figures 23-4 and 23-5).
resonance imaging with gadolinium is more sensitive than CT and

recommended. 12
FIGURE 23-2 Mastoid itis in a young b oy with re curre nt otitis me d ia. FIGURE 23-4 Comp ute d tomog rap hy (CT) scan of the te mp oral b one
Note the e rythe ma and p rotrusion of the le ft e ar. (Use d with p e rmission showing localize d b ony d e struction along the late ral marg in (arrow) of
from William Clark, MD.) the le ft mastoid air ce lls.
PART 5
MASTO IDITIS 147
rather than the postauricular area can be helpful in differentiating

these entities. CT of the temporal bones also can help differentiate
otitis externa from mastoiditis in that there usually will not be
opaci cation of mastoid air cells and will reveal mostly soft tissue
changes in the ear canal.
postauricular area. However, the normal tympanic membrane, the

lack of constitutional symptoms, lack of leukocytosis along with
clinical history and imaging should easily differentiate trauma from
acute mastoiditis.
scalp infection may cause postauricular swelling and erythema.

However, the normal auricle, tympanic membrane, and often pal-
pable lymph node help distinguish this from mastoiditis.
MANAGEMENT
FIGURE 23-5 Comp ute d tomog rap hy (CT) scan of the te mp oral b one
showing p romine nt soft tissue thicke ning (arrow) o ve rlying the p oste -
rior le ft te mp oral re g ion with ce ntral ab sce ss formation.
treated with parenteral antibiotics and myringotomy with or with-
out placement of a tympanostomy tube. SO R
and erosion of the cortical mastoid bone (Figure 23-6). by one study, which showed that nearly 1/ 4 to 1/ 3 of these
patients eventually required further surgical intervention. 13
-
DIFFERENTIAL DIAGNO SIS rative complications is treated with intravenous antibiotics, myrin-
gotomy with or without placement of tympanotomy tubes, and
mastoidectomy. SO R
region which can mimic acute mastoiditis. The appearance of the
-
external canal and the degree of tenderness of the auricle itself,
apy alone and often requires mastoidectomy.
NO NPHARMACO LO GIC
may be necessary to prevent further infection.
MEDICATIO NS
administered. More speci c therapy can be administered once the

etiologic agent has been isolated. 14
Ceftriaxone is a good empiric option. Vancomycin is often added

to the regimen, especially if there is high index of suspicion for a
Staphylococcal infection. SO R
beta-lactamase inhibitor (e.g., ampicillin-sulbactam), cefepime,

and piperacillin-tazobactam.
anti-pseudomonal agent such as ceftazidime, cefepime or an

aminoglycoside. SO R
-
toiditis. The duration of parenteral and total antimicrobial therapy
FIGURE 23-6 Chronic mastoid itis and chole ste atoma in 16 ye ar-old . depends on clinical improvement, resolution of the ndings, and
Note the soft tissue se e n lling mid d le e ar and masto id (arrow) with
e rosion of late ral mastoid cortical b one (arrowhe ad ) and p oste rio r -
e xte rnal aud itory canal. monly prescribed. SO R
PART 5
148 CHAPTER 23
with dexamethasone can be used as an adjunct. SO R
SURGERY
important to perform in order to drain purulence, attain culture

material, and to relieve pain.
postauricularly especially in setting of acute and/ or coalescent

mastoiditis.
REFERRAL
Early consultation to otolaryngology is important to determine need
for surgical intervention and to aid in attaining cultures. If intracranial
involvement is present, neurosurgery consultation is important. An
infectious diseases specialist is often involved in the care of these
patients to direct antimicrobial therapy.

FIGURE 23-7 This ad ole sce nt p re se nte d with he ad ache and fe ve r
and was found to have a b rain ab sce ss, which was the re sult of chronic
otitis me d ia and mastoid itis. (Use d with p e rmission from Camille
and aggressive management of worsening symptoms and signs is Sab e lla, MD.)
important in preventing progression to mastoiditis.
PATIENT EDUCATIO N
PRO GNO SIS
tenderness behind the ear warrants immediate medical attention.

to contiguous structures, and occur in approximately 10 percent to
30 percent of patients with acute mastoiditis. 6,15
sis, laterally to produce subperiosteal abscess, superiorly to cause www.webmd.com/ cold-and- u/ ear-infection/
intracranial infections, or inferiorly to form a Bezold abscess, which mastoiditis-symptoms-causes-treatments.
is a neck abscess located beneath the sternocleidomastoid and digas-
tric muscles. 16 PRO VIDER RESO URCES
Pocket guide to antimicrobial therapy in otolaryngology and head and
hearing loss, labyrinthitis, and osteomyelitis of the bones of the neck surgery, 13th edition, 2007—www.entnet.org/
skull. EducationAndResearch/ upload/ AAO-PGS-9–4–2.pdf.
abscess, epidural or subdural abscess, and venous sinus thrombosis.

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JD, Demmler- Harrison GJ, Kaplan SL, eds. Textbook of Pediatric
Infectious Diseases, 6th ed.
FO LLO W-UP
in children: a seventeen-year experience in Dallas, Texas. Pediatr
Infect Dis J.
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4. Ongkasuwan J, ValdezTA, Hulten KG, et al. Pneumococcal
type of treatment used, whether surgical and medical, and the mastoiditis in children and the emergence of multidrug-resistant
response to treatment. Pediatrics
PART 5
MASTO IDITIS 149
5. Luntz M, Brodsky A, Nusem S, et al. Acute mastoiditis—the

antibiotic era: a multicenter study. Int J Pediatr Otorhinolaryngol. is computed tomography always necessary? Ann Otol Rhinol
Laryngol
6. van den Aardweg MT, Rovers MM, de Ru JA, et al. A systematic 12. Bluestone CD. Clinical course, complications, and sequelae of
review of diagnostic criteria for acute mastoiditis in children. acute otitis media. Pediatr Inf Dis J.
Otol Neurotol 13. Ionnis M, Psarommatis A, CharalamposV, et al. Algorithmic
management of pediatric acute mastoiditis. Int J Pediatr
Prober CG, eds. Principles and Practice of Pediatric Infectious Diseases, Otorhinolaryngol.
4th ed
8. Katz A, Leibovitz E, Greenberg D, et al. Acute mastoiditis in suppurative mastoiditis: Is peripherally inserted central catheter
(PICC) antibiotic therapy necessary? Otolaryngol Head Neck Surg.
2001). Pediatr Infect Dis J.
15. El-Kashlan HK, Harker LA, Shelton C, et al. Complications of
and microbiological differences between children with simple or
complicated mastoiditis. Int J Pediatr Otorhinolaryngol Niparko, JK, Richardson, MA, Robbins, KT, and Thomas, JR.
1270.15. Otolaryngology-Head &Neck Surgery, Elselvier: Maryland Heights,
of mastoiditis in children at the onset of a new millennium. Ann 16. Leskinen K. Complications of acute otitis media in children.
Otol Rhinol Laryngol. Curr Allergy Asthma Rep
PART 5
150 CHAPTER 24
24 EAR—FO REIGN BO DY
Brian Z. Rayala, MD
PATIENT STO RY
A 3-year-old girl is brought by her parents to an urgent care facility

after a day of crying, irritability, scant otorrhea, and frequent pulling
of her right ear. Otoscopy reveals an erythematous, swollen external
auditory canal (EAC) where a bead is wedged (Figure 24-1). The
patient is referred to an otolaryngologist and the bead is removed
using an operating microscope for visualization.
INTRO DUCTIO N
FIGURE 24-2 Pie ce of a crayon in the e ar canal of a 4-ye ar-old b oy.
(Use d with p e rmission from William Clark, MD.)
otorrhea, or decreased hearing. At times, symptoms may be non-
speci c, like irritability and crying. Other times, presentation may
be asymptomatic.
EPIDEMIO LO GY ~ Initial breakdown of the skin-cerumen barrier (caused by

–3
~ Skin in ammation and edema leading to subsequent obstruction
4
of adnexal structures (e.g., cerumen glands, sebaceous glands,
and hair follicles).
~
~ In the case of alkaline battery electrochemical reaction, severe

5 alkaline burns may occur.
~ Inanimate objects such as beads (Figure 24-1), cotton tips,
paper, toy parts, crayons (Figure 24-2), eraser tips, food, or
organic matter, including sand (Figure 24-3), sticks, and stones.
~ Insects (Figure 24-4).
FIGURE 24-3 Be ach sand g ranule s with e xostosis in the e ar of a cold

FIGURE 24-1 Fore ig n b od y (b e ad ) in the e ar canal of a 3-ye ar-old g irl wate r surfe r. The e xostose s are commo n in cold wate r swimme rs and
with re active tissue around it. (Use d with p e rmission from William Clark, surfe rs. (Use d with p e rmission from Roy F. Sullivan, PhD. Aud iolog y
MD.) Forum: Vid e o O toscop y, www.rcsullivan.com.)
PART 5
EAR—FO REIGN BO DY 151
middle-ear in ammation and effusion (i.e., bulging, erythematous,
symptoms of acute illness like fever (see Chapter 22, Otitis
ear and recurrent middle-ear infections with or without hearing loss.
MANAGEMENT
PRO CEDURES
proper instrumentation allow the uncomplicated removal of many

FIGURE 24-4 Ant in the e ar canal. (Use d with p e rmission from Vlad imir 7 SO R
Zlinsky, MD in Roy F. Sullivan, PhD. Aud iolog y Forum: Vid e o O toscop y,
www.rcsullivan.com.) ~ The use of general anesthesia is preferred in very young children
-
tion, or location predispose to traumatic removal in the ambula-
tory setting. 7 SO R
RISK FACTO RS
~ Small inorganic objects can be removed from the EAC by irriga-
I
5 years. I
matter, which leads to further obstruction.

I
DIAGNO SIS potential for liquefaction necrosis and severe alkaline burns.
~ Objects with protruding surfaces or irregular edges can be
CLINICAL FEATURES removed with alligator forceps under direct visualization.
~ Objects that are round or breakable can be removed using a wire
~ Otalgia. loop, a curette, or a right-angle hook that is slowly advanced
~ Otorrhea or otorrhagia. beyond the object and carefully withdrawn.
~ ~ Cyanoacrylate adhesive (e.g., “superglue”) has been used to
~ Irritability or crying.
~ ~
or forceps). Instilling alcohol or mineral oil into the auditory

canal can kill them.
(Figures 24-1 through 24-4).
REFERRAL
erythema, or aural discharge) (Figure 24-1).

8
LABO RATO RY AND IMAGING 7
Figure 24-1). 9
very limited use.
(Figure 24-1).
PREVENTIO N
(on otoscopic exam) is the key differentiating factor (see Chapter

objects (e.g., beads, small toys, etc.).
PART 5
152 CHAPTER 24
REFERENCES
PRO GNO SIS
body removal in children. Int J Pediatr Otorhinolaryngol.
- Indian J Pediatr.
tive removal. 7,8–
children. Pediatrics.
FO LLO W-UP
Pediatr Emerg Care.
-
mation or infection is likely (e.g., numerous attempts, use of -
agement of aural foreign bodies in two Australian emergency
departments. Emerg Med Australas.
PATIENT EDUCATIO N -
senting with self-inserted nasal and aural foreign bodies. Int J
Pediatr Otorhinolaryngol.
and foreign body. Pediatrics.

PATIENT RESO URCES
www.emedicinehealth.com/ foreign_body_ear/
auditory canal in a pediatric emergency department. Pediatr Emerg
article_em.htm.
Care.
www.webmd.com/ a-to-z-guides/ foreign-body-in-
the-ear.
Laryngoscope.
www.entusa.com/ external_ear_canal.htm.
of foreign bodies of the external ear canal in children. Otol Neurotol.
www.nlm.nih.gov/ medlineplus/ ency/ article/ 000052.
htm.
http:// emedicine.medscape.com/ article/ 763712-
overview.
PART 5
NASAL PO LYPS 153
SECTIO N 2 NO SE AND SINUS
25 NASAL PO LYPS ETIO LO GY AND PATHO PHYSIO LO GY

Lind a Fre nch, MD
2
PATIENT STO RY Helicobacter pylori -

3
A 14-year-old boy complains of unilateral nasal obstruction for the

past several months of gradual onset. On examination of the nose, a mediators that induce an influx of inflammatory cells, including
nasal polyp is found (Figure 25-1).
activation of fibroblasts. 4
INTRO DUCTIO N polyps.
Nasal polyps are benign lesions arising from the mucosa of the nasal nasal polyps.
passages including the paranasal sinuses. They are most commonly
semitransparent and pale in appearance.
DIAGNO SIS
EPIDEMIO LO GY1 CLINICAL FEATURES
Figure 25-1).
Figure 25-2).
~ Nonallergic and allergic rhinitis and rhinosinusitis.

~ TYPICAL DISTRIBUTIO N
~ Cystic brosis.
~ middle meatus.
polyps.
FIGURE 25-2 Nasal p olyp in rig ht nasal cavity in a p atie nt with

FIGURE 25-1 Nasal p olyp in le ft mid d le me atus with normal surround - in ame d mucosa from alle rg ic rhinitis. (Use d with p e rmission from
ing mucosa. (Use d with p e rmission fro m William Clark, MD.) William Clark, MD.)
PART 5
154 CHAPTER 25
MANAGEMENT
MEDICATIO NS
7,8 SO R
-
sidered in severe cases. SO R
resolve them. Corticosteroid treatment is also useful preopera-
11 SO R
FIGURE 2 5-3 Co mp ute d to mo g rap hy (CT) scan sho wing p o lyp s 12 SO R

(aste risk) and b ilate ral o p aci e d maxillary sinuse s (MS). No te the
nasal p olyp ap p e ars to b e coming from the le ft maxillary sinus and is
ab ove the infe rio r turb inate . (Use d with p e rmission fro m Richard
P. Usatine , MD.)
polyposis. 13 SO R
PRO CEDURES
-
helps prevent recurrence. 14

brosis.
may be indicated to evaluate extent of lesion(s) (Figure 25-3).

PRO GNO SIS
BIO PSY
ciliary epithelium, edematous stroma, epithelial basement mem-

FO LLO W-UP
are high.
PATIENT EDUCATIO N
from striated muscle. and their tendency to recur.
PATIENT RESO URCES

www.mayoclinic.com/ health/ nasal-polyps/
DS00498.
-
Nasal Polyps—www.nlm.nih.gov/ medlineplus/ ency/
article/ 001641.htm.
malignancy of childhood.
article/ 994274.
grayish mass. Bleeds easily. Occurs in adolescent males, ages 14 to
Nonsurgical Treatment of Nasal Polyps—
6 www.emedicine.medscape.com/ article/ 861353.
PART 5
NASAL PO LYPS 155
REFERENCES
Nasal Polyps Cochrane Database Syst Rev.
Ann Intern Med.

Mol Med Report.
- -
cobacter pylori and cagA gene in nasal polyps and benign laryn- J Allergy
geal diseases. Arch Med Res. Clin Immunol.
-
Curr Allergy Asthma Rep. congestants affect polyps? Acta Otolaryngol.
463-471.
Angio broma to oral and inhaled steroid therapy in chronic nasal polyposis.
Otolaryngol Head Neck Surg.
Childs Nerv Syst.
Clin Otolaryngol.
analysis. Laryngoscope.
Ann Allergy Asthma Immunol.

intranasal steroids in the treatment of chronic rhinosinusitis.
PART 5
156 CHAPTER 26
26 SINUSITIS EPIDEMIO LO GY
Mind y Smith, MD, MS
accounting for 20 million antibiotic prescriptions; 6 percent to
7 percent of children seeking care for respiratory symptoms have
acute bacterial sinusitis. 1
PATIENT STO RY
to 8 percent will develop a sinus infection. 2,3
A 6-year-old is brought in by his mother for persistent rhinorrhea. He
had what appeared to be a cold about 2 weeks prior but continues to 2
allergy, 4 and day
have a stuffy nose and a constant cough, which is worse at night. He care attendance.
has no fever but his mother says that he appears more tired than usual
-
and has a decreased appetite. On examination, the child has a puru-
itis actually have bacterial infection. 6
lent nasal discharge, nasal mucosal erythema, and allergic shiners
(Figure 26-1); he otherwise appears healthy. You diagnose acute
bacterial sinusitis (ABS) and prescribe oral amoxicillin-clavulanate. ETIO LO GY/ PATHO PHYSIO LO GY
You discuss the lack of bene t of antihistamines and decongestants
but offer a prescription for nasal corticosteroids, which the parent
declines.
The mucus is transported by ciliary action through the sinus ostia
-
sal sinuses are sterile cavities and there is no mucus retention.
INTRO DUCTIO N
-
Sinusitis is symptomatic in ammation of the sinuses, nasal cavity, and
their epithelial lining. Mucosal edema blocks mucous drainage creat-
ing a culture medium for viruses and bacteria. Sinusitis is classi ed by impaired, causing mucus accumulation and secondary bacterial
duration as acute (<4 weeks), subacute (4-12 weeks), or chronic overgrowth.
(>12 weeks).
~
Streptococcus (S)
pneumoniae, Haemophilus in uenzae, Moraxella catarrhalis
past 10 years, S. pneumoniae has become less common and Hae-
mophilus in uenzae more common as the etiologic agent of acute
bacterial sinusitis in children. 2
fulminant fungal sinusitis can occur.
~
(e.g., airplane travel), chemical irritants, tumors, and conditions

that alter mucus composition (e.g., cystic brosis).
DIAGNO SIS
1,2
ABS is
~ Symptoms are present for 10 days or longer without improve-

ment but less than 30 days.
~ Symptoms worsen after initial stability or improvement (“double
worsening” or “double sickening”).
~ There are unusually severe signs and symptoms (high fever
[>
days.
of infection (periorbital in ammation, orbital cellulitis, orbital or

FIGURE 26-1 Alle rg ic shine rs in a child with acute b acte rial sinusitis.
Alle rg y is a risk factor for the d e ve lop me nt of acute b acte rial sinusitis. brain abscess), although these complications of sinusitis are infre-
(Use d with p e rmission from Camille Sab e lla, MD.) quent (Figures 26-2 and 26-3). 2
PART 5
SINUSITIS 157
FIGURE 26-2 Pe riorb ital e rythe ma and swe lling in a 1-ye ar-old child FIGURE 26-4 O p aci cation o f the le ft e thmoid al and maxillary sinuse s
with p ansinusitis and le ft orb ital ab sce ss. (Use d with p e rmission from in a 5-ye ar-old b oy with acute bacterial sinusitis. Note the air- uid le ve l in
Camille Sab e lla, MD.) the left maxillary sinus. (Use d with p ermission from Camille Sabella, MD.)
CLINICAL FEATURES
in ammation. 2 erythema (Figures 26-2 and 26-3), proptosis, or abnormal intra-

ocular muscle function. 2
persistence of symptoms without improvement that suggests the
diagnosis of ABS. TYPICAL DISTRIBUTIO N
purulent or discolored) and daytime cough, which may be worse by the ethmoid (anterior), frontal, and sphenoid sinuses; however,
at night. most cases involve more than one sinus (Figures 26-4 to 26-6). 4
and decreased appetite.
the diagnosis of ABS. Erythema and swelling of the nasal mucosa

are nonspeci c ndings.
FIGURE 26-3 Pe riorb ital swe lling in a 12-ye ar-old b oy with le ft orb ital FIGURE 26-5 O p aci cation o f the e thmoid al and sp he noid sinuse s in
ce llulitis as a comp lication of acute b acte rial sinusitis. (Use d with a 16-ye ar-old b oy with acute b acte rial sinusitis. (Use d with p e rmission
p e rmission from Camille Sab e lla, MD.) from Camille Sab e lla, MD.)
PART 5
158 CHAPTER 26
FIGURE 26-6 O p aci cation of the le ft e thmoid al and maxillary sinuse s FIGURE 26-7 Air uid le ve l in le ft frontal sinus and p rop tosis of the
in a young girl who d evelop ed orb ital cellulitis as a complication of acute frontal b one in an ad ole sce nt who d e ve lop e d Pott’s p uffy tumor and a
b acterial sinusitis. (Used with permission from Camille Sabella, MD.) sub d ural e mp ye ma from acute b acte rial sinusitis. (Use d with p e rmis-
sio n from Camille Sab e lla, MD.)
-
moid and sphenoid sinuses. 7 -
LABO RATO RY AND IMAGING rhinosinusitis, the addition of endoscopy to symptom criteria had
similar sensitivity (88.7% versus 84.1%) but signi cantly improved
11
1
REFER O R HO SPITALIZE
infection, a meta-analysis in adult patients found endoscopically-
-
directed middle meatal cultures to be reasonably sensitive (80.9%),
riorate clinically despite extended courses of antimicrobial therapy, or
have recurrent bouts of ABS should be referred to a specialist.10
81.3% to 92.8%) compared with maxillary sinus taps. 8
including subperiosteal orbital abscess (Figure 26-2 and 26-3),

aspirates in children with ABS. Given that the middle meatus in
meningitis, epidural or cerebral abscess, and cavernous sinus throm-
sinusitis, it is dif cult to ascertain the accuracy of meatal cultures in
with ABS have complications; most complications occur in males. 12
children without comparative trials. ~ The risks of frontal sinusitis include eroding through the frontal
Figure 26-7), or
direct sinus aspiration for specimens for culture rather than naso-
pharyngeal swabs. 9 small case series (N =
(N = 13) was the most common intracranial complication of
diagnostic criteria for ABS, unless a complication (Figures 26-2, ABS followed by subdural empyema (N = 9), meningitis
26-3, 26-6, 26-7 (N = 6), encephalitis (N = 2), brain abscess (N = 2), and dural
1
sinus thrombophlebitis (N = 2). 13
~ ~
- orbital complications. 13
10
complication of ABS in children, accounting for 80 percent to
~ 90 percent of all extracranial complications. 13 Orbital complica-
or proptosis. 13 Orbital abscess is highly dangerous and can also be

paranasal sinuses. the result of spread from the frontal sinuses.
PART 5
SINUSITIS 159
~ sinusitis, three showed bene t; however, in the remaining two trials

cause orbital swelling, cellulitis, proptosis, ptosis, impairment of the antimicrobial treatment dose was suboptimal and in one, the pres-
extra-ocular motion, nasopharyngeal ulceration, and epistaxis. ence of asthma and allergic conditions may have compromised accu-
Bony erosion can occur. Nasal mucosa might appear black, rate diagnosis or determination of treatment response.2
blanched white, or erythematous. ~ -
cillin and 6.4 mg of clavulanate per kilogram of body weight per
day, administered in two doses) was associated with reduced treat-
DIFFERENTIAL DIAGNO SIS ment failure (14% versus 68% on placebo) with a number needed
to treat of three.17 The clinical success rate for the drug and clinical
-
marily viral (most commonly rhinovirus), that cause six to eight infec- Wald et al. trial, cure rate was 67 percent for amoxicillin, 64 percent
- for amoxicillin-clavulanate potassium, and 43 percent for placebo.18
mately 7 to 10 days) and typical symptoms include rhinorrhea, nasal
resistance patterns to S. pneumoniae
other risk factors for bacterial resistance.
only at night. ~
amoxicillin administered in two doses) rather than amoxicillin

cough occurs at night. alone is recommended as empiric antimicrobial therapy for ABS
10
the rst line treatment of uncomplicated ABS when antimicrobial

recurrent sinusitis, sinus pain. resistance is not suspected. 1
~ Amoxicillin and amoxicillin-clavulanate have been best studied
but there are no studies demonstrating comparative effectiveness
MANAGEMENT of one antibiotic over another. 2 Macrolides and trimethoprim-
10
~ High dose amoxicillin-clavulanate or amoxicillin (2 g orally twice

improve without speci c treatment; a period of watchful waiting for
up to 10 days is consistent with guidelines. 10 Treatment of symptoms, recommended as rst-line therapy for children in areas where
including pain, is important. bacterial resistance rates are 10 percent or higher and for those in
day care, those <2 years of age, those with comorbidities or
NO N-PHARMACO LO GIC immune compromise, and those who have been
past month.10 SOR
ABS in children. 14 - ~ A single-dose of intramuscular or intravenous ceftriaxone can be
used for children who are unable to tolerate oral medication or
nasal steroids, and is well tolerated. SO R unlikely to be adherent to oral therapy. 1
~
MEDICATIO NS a third-generation oral cephalosporin (ce xime or

cefpodoxime) with or without clindamycin in cases with non–
drugs) should be used for pain.
bacterial resistance. 1,10 SO R
~ of
been demonstrated with the use of antihistamines and deconges-
tants in children. 2,10 SO R
penicillin and cephalosporin skin testing is encouraged in this
situation. 1,10 SO R
helpful in reducing allergic symptoms in children with atopy who ~
develop ABS. SO R 1,10 SO R
-
16
and resolution of symptoms of ABS in adolescents and adults. ment for acute maxillary sinusitis, antibiotics decreased clinical
SO R The bene t of intranasal corticosteroids in young children failure by about 10 percent. 19 -
with ABS has not been proven. 1 biotics showed no signi cant differences; therefore narrow-spec-
trum antibiotics were recommended. 20
atopic children or adults with ABS. However, they may be useful in improving rates of clinical
preventing crust formation and liquefying secretions. SO R cure or symptom improvement should be weighed against the risks
of harm (primarily gastrointestinal but also skin rash, headache,
symptoms or worsening of symptoms should be offered oral antibiot-
ics. SOR effects (primarily diarrhea) occurred in 44 percent (versus 14%
PART 5
160 CHAPTER 26
with placebo) and three children (11%) discontinued treatment due children for allergy and systemic predisposing factors (e.g., cystic bro-
to medication side effects. 18 sis, primary ciliary dyskinesia) can help direct treatment.
-
tion therapy with vancomycin, - PATIENT EDUCATIO N
vides coverage for most intracranial pathogens complicating ABS. 13
PRO CEDURES cold) or worsening or severe symptoms (fever, facial pain) follow-
ing a cold may indicate a sinus infection and patients should see
collections. 13 their primary provider. Symptoms due to a cold usually abate
within one week.
20
and nasal saline irrigation) have not been shown to work in children
nasal symptoms in children found only two studies (one of recur- but intranasal steroids may prove useful.
rent otitis media); both did not show bene t. 21
~ The presence of bio lm in adenoid samples from children with PATIENT RESO URCES
chronic rhinosinusitis compared with children who had adenoid- http:// www.niaid.nih.gov/ topics/ sinusitis/ Pages/
Index.aspx.
for removing adenoids in children prior to proceeding to endo- http:// kidshealth.org/ parent/ infections/ bacterial_
scopic sinus surgery. 22 viral/ sinusitis.html# .
found endoscopic sinus surgery was not superior to medical treat- PRO VIDER RESO URCES
ment; in one study there was a lower relapse rate (2.4% versus
23 SOR
-
www.pediatrics.aappublications.org/ content/
tional endoscopic surgery in children was highly successful (88.7%
early/ 2013/ 06/ 19/ peds.2013-1071.
positive outcomes) with a 0.6 percent complication rate. 24 SOR
guideline for acute bacterial rhinosinusitis in children and

avoidance will help to lower the risk of sinusitis, especially in chil-
adults. Clin Infect Dis
dren with a history of allergies, who are already at higher risk for
developing ABS.
REFERENCES
PRO GNO SIS
N Engl
J Med
sinusitis within two weeks was high in both the placebo group J Otolaryngol
(80%) and the antibiotic group (90%). 19
children, cure rates were 64 percent to 86 percent on antibiotics and
cure rates on placebo were an absolute rate of 20 percent lower. 2
effect of age. Pediatrics.
between allergic diseases and infectious diseases. J Microbiol

FO LLO W-UP
Immunol Infect
days, a nonbacterial cause or resistant organism should be consid-

ered and antibiotic coverage should be broadened or a different Pediatrics
antibiotic class should be chosen (e.g., amoxicillin-clavulanate,
respiratory uoroquinolone). 1,10 SO R outcomes in patients with sinus complaints and normal results of
sinus roentgenography. Arch Fam Med.
-
cations) and direct sinus aspirate or meatal cultures. 10 Rhinology.
-
itis is unclear; none-the-less, antibiotics (e.g., amoxicillin-clavulanate)
for 3 to 4 weeks and intranasal steroids are often used.26 Assessing directed middle meatal cultures versus maxillary sinus taps in
PART 5
SINUSITIS 161
Otolaryngol Head Neck Surg clavulanate potassium in the treatment of acute bacterial sinusitis
guideline for acute bacterial rhinosinusitis in children and adults.

Clin Infect Dis effectiveness of amoxicillin and amoxicillin-clavulanate potassium
ACR Appropriateness
Criteria® sinusitis – child placebo-controlled trial. Pediatrics
content.aspx?id= =rhinosinusitis, accessed October -
2012.
rhinosinusitis based on clinical guidelines and endoscopy.

Otolaryngol Head Neck Surg sinusitis in children. Otolaryngol Clin North Am
21. van den Aardweg MTA, Schilder AGM, Herkert E, et al.
in children. Pediatr Infect Dis J Adenoidectomy for recurrent or chronic nasal symptoms in
children. Cochrane Database Syst Rev
complications of sinusitis in children and adolescents. Arch
Otolaryngol Head Neck Surg bio lms in chronic rhinosinusitis. Int J Pediatr Otorhinolaryngol.
irrigation for acute sinusitis in children. Cochrane Database Syst

Rev
irrigations for the symptoms of chronic rhinosinusitis. Cochrane

Database Syst Rev pediatric functional endoscopic sinus surgery. Laryngoscope.
sinusitis. Cochrane Database Syst Rev Int J Pediatr.

PART 5
162 CHAPTER 27
27 CO MPLICATIO NS devastating consequences, including blindness, neurologic morbidity,

and even death.
O F SINUSITIS
Janale e Holme s, MD SYNO NYMS
Prashant Malhotra, MD, FAAP
Periorbital cellulitis, subperiosteal abscess, orbital cellulitis, orbital
abscess, cavernous sinus thrombosis, meningitis, subdural abscess,
subdural empyema, pyocele, mucopyocele, intracranial abscess, or
PATIENT STO RY invasive fungal sinusitis.
A 10-year-old girl has a 2-week history of daily headaches and rhinorrhea.

She is admitted from the emergency department to the pediatric intensive EPIDEMIO LO GY
care unit for a 2-day history of worsening left frontal headache, mental
status changes including lethargy and slurred speech, nausea, and mild -
periorbital edema. Computed tomography (CT) demonstrates opaci cations from sinusitis and approximately 3 percent of all acute
tion of bilateral frontal, maxillary, and anterior ethmoid sinuses as well as rhinosinusitis. 1
pneumocephalus (Figure 27-1A). Magnetic resonance imaging demon-
strated extensive left sided subdural empyema (worse frontal and tempo- complications associated with acute ethmoiditis. 2
ral) and diffuse bilateral dural enhancement (Figure 27-1B). She is
urgently treated via a combined surgical approach with pediatric otolar-
likely to develop intracranial complications. 2,3 This is likely
yngology for bilateral endoscopic sinus surgery and pediatric neurosur-
related to the age related development of the frontal and
gery for left craniotomy. She subsequently had 10 weeks of intravenous
sphenoid sinuses.
antimicrobial therapy. Her immediate postoperative course was compli-
cated by seizures; she has now made a full recovery and is doing well.
INTRO DUCTIO N
viral rhinosinusitis.
Complications of acute sinusitis are typically extensions of infection
beyond the paranasal sinuses into adjacent structures and can have skull base provide potential routes for direct spread.
A
A B
FIGURE 27-1 A. Coronal CT scan d e monstrating b ilate ral e thmoid and le ft maxillary sinus op aci cation along p ne umoce p halus, in a 10-ye ar-old
with intracranial e xte nsion from frontal sinusitis le ad ing to sub d ural e mp ye ma. B. Same p atie nt, coronal T2 MRI d e monstrating a hyp e rinte nse
e xtra-axial colle ction (arrow) along the falx to the le ft of mid line and uniform d ural e nhance me nt ove rlying b oth ce re b ral he misp he re s. (Use d with
p e rmission from Prashant Malhotra, MD.)
PART 5
CO MPLICATIO NS O F SINUSITIS 163
TABLE 27-1 Chand le r Classi cation of O rb ital Comp lications 4
I Pre se p tal ce llulitis

II Sub p e rioste al ab sce ss
III O rb ital ce llulitis
IV O rb ital ab sce ss
V Cave rnous sinus thromb osis
ophthalmic veins are valveless and allow for communication

between the nose, sinuses, face, orbit, cavernous sinus, and
intracranial system.
A
perivascular structures results in a continuum of in ammatory
and infectious changes.
of thrombophlebitis and septic emboli.

Table 27-1), 4 intracranial, or
involving adjacent bone.
subdural abscess or empyema, and intracerebral abscess or venous

sinus thrombophlebitis.
bacteria (Streptococcus pneumoniae, Haemophilus in uenzae, and

Moraxella catarrhalis); however, suppurative complications are also
associated with other Streptococcus species, Staphylococcus aureus,
anaerobes (such as Bacteroides and Fusobacterium species), and
polymicrobial infections.
as well as osteomyelitis.
RISK FACTO RS
B
-
kinesias are more likely to develop acute bacterial rhinosinusitis. 5,6 FIGURE 27-2 A. Ele ve n-ye ar-old male with rig ht e thmoid sinusitis,
sub p e rioste al ab sce ss who d e ve lop e d lowe r e ye lid ab sce ss. B. Same
p atie nt, coronal CT scan d e monstrating lowe r e ye lid ab sce ss (arrow).
cases.1 (Use d with p e rmission from Paul Krakovitz, MD.)
sinusitis, adolescent age, and male gender.

common, and conjunctiva should be assessed for chemosis. Fluctu-
ance of lids consistent with abscess is rare (Figure 27-2A,B).
DIAGNO SIS
extending into the upper and lower eyelids, and is a physiologic
CLINICAL FEATURES barrier to the orbit. When post-septal involvement is suspected an
ophthalmologic consultation should be obtained immediately to
have an examination with anterior rhinoscopy or nasal help with surgical planning.
endoscopy to evaluate for polyps or purulent drainage in
the middle meatus. include frontal or retro-orbital headache, nausea and vomiting,
altered mental status, nuchal rigidity, abducent nerve palsy, and
anatomic abnormalities such as mucopyocele. papilledema.
neurologic ndings.
PART 5
164 CHAPTER 27
TABLE 27-2 Comp lications of Sinusitis and The ir Corre sp ond ing Clinical Find ing s
Co mp licat io n Clinical Find ing s

Pre se p tal ce llulitis Eye lid e d e ma, e rythe ma, and te nd e rne ss (Fig ure 27-3). No d e cits in e xtraocular
move me nt or visual acuity.
Sub p e rioste al ab sce ss Eye lid e d e ma, e rythe ma, and te nd e rne ss, and p ossib ly p rop tosis and imp aire d
e xtraocular muscle move me nt. Can have d ownward and late rally d isp lace d
g lob e (Fig ure s 27-4 and Fig ure 27-5).
O rb ital ce llulitis Eye lid e d e ma and e rythe ma, p rop tosis, che mosis, limite d or no imp airme nt of
e xtraocular move me nts or vision. Normal visual acuity.
O rb ital ab sce ss Sig ni cant e xop hthalmos, che mosis, op hthalmop le g ia, and visual imp airme nt
(Fig ure s 27-6).
Cave rnous sinus thromb osis Bilate ral orb ital p ain, che mosis, p rop tosis, op hthalmop le g ia, cranial ne urop athie s
(IV, V1, V2, and VI), p icke t-fe nce fe ve rs, me ning ismus, le tharg y.
Me ning itis He ad ache , ne ck stiffne ss, and hig h fe ve r, vomiting .
Ep id ural ab sce ss He ad ache , fe ve r, and local p ain and te nd e rne ss. Une nhance d CT re ve als a
hyp od e nse or isod e nse cre sce nt-shap e d are a ad jace nt to the inne r tab le of
the skull.
Sub d ural ab sce ss He ad ache , fe ve r, me ning ismus, focal ne urolog ic d e cits, and le tharg y with rap id
d e te rioration. MRI d e monstrate s a low sig nal on T1 imag e s and hig h sig nal on
T2 imag e s with p e rip he ral contrast e nhance me nt (Fig ure s 27-1).
Intrace re b ral ab sce ss Fe ve r, he ad ache , vomiting , le tharg y, se izure s and focal ne urolog ic d e cits. Frontal
d e cits can includ e chang e s in mood and b e havior. Lumb ar p uncture can b e life
thre ate ning . MRI d e monstrate s a cystic le sion with a d istinct hyp ointe nse
strong ly e nhancing cap sule on T2 imag e s.
Ve nous sinus thromb osis Extre me ly ill with me ning e al sig ns or othe r se rious ne urolog ic symp toms. Picke t
fe nce fe ve rs. MRI may re ve al focal d e fe cts of e nhance me nt. MR ang iog ram and
ve nog ram can furthe r d e line ate .
Pott’s p uffy tumor or frontal “Puffy” uctuant fore he ad swe lling , frontal p ain, fe ve r (Fig ure s 27-7).
b one oste omye litis
Mucoce le , p yoce le , Prop tosis and imp aire d e xtraocular muscle move me nt (Fig ure 27-8).
mucop yoce le
ndings are summarized in Table 27-2.
intracranial infection.
IMAGING
post-septal involvement or an intracranial complication.

-
appearing, high fevers), or in patients who are immunocompromised.

-
FIGURE 27-3 Presep tal cellulitis in the setting of acute ethmoid sinusitis.
formed when intracranial complications is suspected and should This resolved with antibiotic therapy alone. (Used with permission from
include axial and coronal T1 and T2 images. Paul Krakovitz, MD.)
PART 5

on examination and imaging.
Trauma—History and lack of sinusitis on examination and imaging
will help to differentiate from sinusitis complication.
endoscopy.
on examination and imaging will help to differentiate.
A
A B
C
C B D
FIGURE 27-4 A. Te n-month-old with p ansinusitis and le ft sub p e rioste al ab sce ss. Has p e riorb ital e d e ma, e rythe ma with intact e xtraocular mob ility.
B. Same p atie nt, axial CT scan (b one wind ows) d e monstrating d e hisce nce in lamina p ap yrace a (arrow). C. Same p atie nt, axial CT scan (soft tissue
wind ows) d e monstrating sub p e rioste al ab sce ss (arrow). D. Same p atie nt, intraop e rative nasal e nd oscop y d e monstrating mid d le turb inate e d e ma.
(continue d )
PART 5
166 CHAPTER 27
E
E F
FIGURE 27-4 (Continue d ) E. Same p atie nt, intraop e rative nasal e nd oscop y d e monstrating p urule nt d rainag e in mid d le me atus afte r re moval of
uncinate p roce ss. F. Same p atie nt, intraop e rative nasal e nd oscop y d e monstrating ab sce ss cavity, d e hisce nt b one , and e xp ose d p e riorb ita. (Use d
with p e rmission fro m Prashant Malhotra, MD.)
nasal endoscopy. MANAGEMENT
MEDICATIO NS
differentiate.
(Periorbital) Cellulitis).
broad-spectrum intravenous antibiotics (often followed by oral

therapy). SO R
used, but utility is debated. SO R
there is intracranial involvement.

F
any secondary cerebral edema. SO R
SURGERY
in visual acuity on initial evaluation, severe orbital complications,

intracranial abscess, progression of orbital signs, symptoms despite
aggressive medical treatment. SO R

FIGURE 27-5 Coronal CT scan demonstrating a rig ht medial subp erios-
teal abscess with dehiscence of the lamina (arrow). (Use d with p ermission
from Paul Krakovitz, MD.) to drain the involved sinuses is performed on a case-by-case basis. SOR
PART 5
FIGURE 27-7 A. Axial CT scan d e monstrating an air- uid le ve l in the

rig ht frontal sinus with associate d sub g ale al ab sce ss (arrow). B. Axial
CT scan 8 we e ks afte r sub g ale al ab sce ss tre atme nt, now with e rosion
of the frontal tab le and comp le te op aci cation of the sinus (arrow).
(Use d with p e rmission from Paul Krakovitz, MD.)
FIGURE 27-6 A. Young b oy with p e riorb ital e d e ma, e rythe ma, che mo-
sis, p rop tosis, and re stricte d e xtraocular mob ility from sup e rior orb ital
ab sce ss. B. Same p atie nt, frontal vie w d e monstrating hyp og lob us. either by endoscopic techniques, medial canthal, or via a transcon-
C. Same p atie nt, frontal vie w d e monstrating che mosis, p urule nt junctival incision depending on the location of the abscess.10 SOR
d rainag e , and g aze re striction. (Use d with p e rmission from Paul
Rychwalski, MD.)
medically have been debated; when the abscess is wider than 10 mm,
decision to proceed immediately for drainage can be considered. 11
PART 5
168 CHAPTER 27
A
A C
B
C D
FIGURE 27-8 A. Mucop yoce le of rig ht e thmoid sinus, e nd oscop ic vie w b e fore rup ture . B. Same p atie nt, e nd oscop ic vie w afte r rup ture . C. Same
p atie nt, e nd oscopic vie w afte r rup ture with e mp ty cavity se e n. D. Same p atie nt, CT scan. Note e xp ansion and erosion of rig ht e thmoid ce lls as we ll as
d ehisce nce of lamina p ap yre ace a (me d ial orb ital wall) (arrow). (Used with p e rmission from Prashant Malhotra, MD.)
with removal of infected bone followed by at least 6 weeks of anti- complications of sinusitis are encountered, for medical and
biotics. SO R possible surgical intervention of source infection, as well as
possibility of endoscopic transnasal approaches to abscesses.
concurrently with sinus surgery.
of therapy, is suggested if suppurative complications are present.
REFERRAL
orbital abscess, or subperiosteal abscess is present, or if there is any PREVENTIO N AND SCREENING
change in vision or ocular mobility. Visual acuity, intraocular pres-
sures, and complete ophthalmologic exam should be documented
prior to surgical intervention. most effective means of prevention.
12
concerns for intracranial extension.
D
PART 5
immunocompromised states such as hematologic or lymphoid

PRO GNO SIS malignancies, post-transplant, immunode ciency disorders, or
poorly controlled type 1 diabetes mellitus.
and treated for longer durations than those with intraorbital

numbness in trigeminal distribution, sinus symptoms (congestion,
extension; however, the risk of persistent sequelae is not
rhinorrhea), palatal stula, overlying skin changes, or signs of
higher. 13
orbital or intracranial extension. 15,16
aphasia, and other neurologic de cits; this is reported to occur in

as there is concern for invasive fungal sinusitis. Fungal hyphal ele-
about 3 to 23 percent of cases.
ments with submucosal in ltration, angio-invasion, and necrosis
are diagnostic.
FO LLO W-UP
fungal sinusitis are suspected and includes axial and coronal T1 and
T2 images (Figures 27-9A,B).
process. -
apy along with radical surgical debridement. Surgical treatment
managed in the inpatient setting. is aggressive, often dis guring.
and visual impairment.
surgery for debridement.

PATIENT EDUCATIO N
INVASIVE FUNGAL SINUSITIS fever requires medical attention.
or changes in mental status should be evaluated urgently.

where prompt recognition can be lifesaving and deserves special
mention. This devastating infection can occur in children in attention.
A
A B
FIGURE 27-9 A. Mild maxillary air- uid le ve ls b ilate rally (arrows) on axial CT scan in a 9-ye ar-old b oy with comb ine d variab le immunod e cie ncy,
and ap lastic ane mia, who p re se nte d with nasal cong e stion and malar p ain and numb ne ss on the rig ht. Nasal e nd oscop y and b iop sy d e monstrate d
invasive Asp e rg illus infe ction. B. Same p atie nt, T2-we ig hte d MRI scan d e monstrating e xte nsion of invasive fung al sinusitis alo ng infraorb ital ne rve
into soft tissue s of che e k (arrow). This p atie nt and his family e le cte d me d ical and p alliative the rap y inste ad of rad ical, d is g uring surg e ry and d ie d
3 months late r. (Use d with p e rmission from Prashant Malhotra, MD.)
PART 5
170 CHAPTER 27
PATIENT RESO URCES

www.umm.edu/
patiented/ articles/ what_symptoms_of_sinus- with a combined transcaruncular and transnasal endoscopic
itis_000062_4.htm. approach. Arch Otolaryngol Head Neck Surg.
www.boogordoctor.com/ 2010/ 04/ 8-complications- -
of-sinusitis-3-that-can-kill/ . itis in Children. Pediatr Ann.

Pediatr Infect Dis J
Pediatrics.
www.pediatrics.aappub-
lications.org/ content/ 108/ 3/ 798.full, accessed October 2012. orbital cellulitis in patients with radiographic ndings of subpe-
riosteal abscess. Otolaryngol Head Neck Surg
guideline for acute bacterial rhinosinusitis in children and
adults. Clin Infect Dis guideline for acute bacterial rhinosinusitis in children and adults.
Clin Infect Dis
REFERENCES
J Pediatr
- -
spective review of 262 cases. Int J Pediatr Otorhinolaryngol. Rhinology.
-
- ric invasive fungal rhinosinusitis in immunocompromised children
bital complications of acute rhinosinusitis in children. Int J Pediatr with cancer. Otolaryngol Head Neck Surg.
Otorhinolaryngol
fatal invasive fungal sinusitis in immunocompromised children.
J Pediatr Hematol Oncol.
Clin Infect Dis.
orbital complications in acute sinusitis. Laryngoscope with endonasal or open surgical procedures. Otolaryngol Head
Neck Surg.
-
gies. Pediatr Allergy Immunol. paranasal sinus mucormycosis. Laryngoscope
-
Pediatr Allergy Immunol. itis following liver or bone marrow transplantation. Am J Rhinol.
Int J Pediatr Otorhinolaryngol
PART 5
SCARLET FEVER AND STRAWBERRY TO NGUE 171
SECTIO N 3 MO UTH AND THRO AT
28 SCARLET FEVER AND

STRAWBERRY TO NGUE
M. Jason Sand e rs, MD
Lind a Fre nch, MD
PATIENT STO RY
A 7-year-old boy is brought to the pediatrician’s of ce with a rough

red rash on his trunk (Figures 28-1 and 28-2) along with fever and a
sore throat. The sandpaper rash and signs that are consistent with
strep pharyngitis lead the physician to diagnose scarlet fever. The
physician explains the diagnosis to the mother and oral penicillin V is
prescribed. The boy feels markedly better by the next day and the
mother continues to give the penicillin for the full 10 days, as
directed, to prevent rheumatic fever.
INTRO DUCTIO N
Scarlet fever is an illness caused by toxin-producing group A β - FIGURE 28-2 Scarlatiniform rash comp rising small p ap ule s and
hemolytic streptococcus (strep) infection. Most commonly, scarlet e rythe ma on the trunk of a fe b rile child with stre p p haryng itis. (Use d
fever evolves from an exudative pharyngitis. with p e rmission from Richard P. Usatine , MD.)
Strawberry tongue may be observed in patients with scarlet fever
yellowish coating usually precedes the classic red tongue with white
and usually develops within the rst 2 to 3 days of illness. A white or
papillae (Figure 28-3).
EPIDEMIO LO GY
gender predilection.
scarlet fever (Figures 28-1, 28-2, and 28-4).
Figure 28-4) is most commonly seen in

children in association with scarlet fever or Kawasaki disease.
seen can initially cover the tongue followed by desquamation of the

membrane (with the appearance as in Figure 28-4).
Streptococcus pyogenes (Group A) (GAS) occurs via

respiratory secretions.
FIGURE 28-1 Sand p ap e r rash on the trunk and in the axilla of a

7-ye ar-old b oy with scarle t fe ve r. (Use d with p e rmission from of GAS are typically more invasive, with greater potential for progres-
Richard P. Usatine , MD.) sion to rheumatic fever or acute glomerulonephritis if untreated. 1
PART 5
172 CHAPTER 28
DIAGNO SIS
CLINICAL FEATURES
nausea and vomiting, decreased oral intake, malaise, and fever can
~ Strawberry tongue—Erythematous and sometimes edematous

tongue with prominent papillae (Figure 28-4).
through which the papillae can be seen.
macules.
occasional pruritus, erupts in 1 to 2 days (Figures 28-1 to 28-3). 2
elbows and axilla) during scarlet fever. Linear hyperpigmentation

can persist after the rash fades (Figure 28-1).
FIGURE 28-3 Sand p ap e r rash (scarlatiniform) se e n p romine ntly on the in 3 to 4 days as rash fades and can persist for 2 to 4 weeks. 1
hand of a child re cove ring from stre p p haryng itis. (Use d with p e rmission
exotoxins produced by GAS. 2 be prominent on the face, chest, palms, ngers, and toes. 1

and seed blood (bacteremia) or organ systems (e.g., pneumonia).
(con rmation) is usually performed.

during the early course of the disease.
~ Elevation of white blood cell count with left shift.
~ Elevated platelet count—Seen with Kawasaki disease (after
1 week).
O titer is obtained to con rm prior infection or
support suspected poststreptococcal complication, such as rheu-
matic fever. 3
-
ing nonsuppurative complications such as rheumatic fever. 4
or angiography is obtained to detect coronary artery abnormalities.

The initial echocardiogram should be performed as soon as the
diagnosis is suspected to establish a baseline for longitudinal follow-
up of coronary artery morphology, left ventricular and left valvular
function, and the evolution and resolution of pericardial effusion
when present. 4 SO R
FIGURE 28-4 Strawb e rry tong ue in a child with scarle t fe ve r cause d b y

stre p p haryng itis; note marke d e rythe ma and p romine nt p ap illae .
(Use d with p e rmission from of Richard P. Usatine , MD.) prominent pruritus and skin vesicles often in linear streaks
PART 5
SCARLET FEVER AND STRAWBERRY TO NGUE 173
mucosae.
with fever followed by skin rashes that can be macular or maculo- ~
unilateral.
rash starts on face and spreads and fades quickly), and roseola (rash features for scarlet fever or Kawasaki’s will assist in
occurs at the end of a period of 3 to 5 days of high fever). Lack of differentiating.
sandpaper feel and oral ndings help distinguish.
- papillae will be absent.
of malaise and fever but is macular, brightly erythematous, and ini-

tially involves the face, neck axilla, and groin. Skin is markedly ten- MANAGEMENT
der and large areas of the epidermis peel away.
NO NPHARMACO LO GICAL
macular erythema that can include pale yellow or white wheals or
measures, such as salt-water gargles, and an antipyretic as needed
are recommended.
MEDICATIO NS
Figure 28-5
there must be the presence of at least four principal features includ- Streptococcus
4 ~
and toes in weeks 2 and 3. ~
penicillin-allergic patients. 5 SO R
~
of immediate penicillin hypersensitivity (cefuroxime axetil
cephalosporins were more effective than penicillin in a

metaanalysis. SO R
~ Symptoms typically resolve in 4 to 7 days.
within 7 to 10 days of onset for Kawasaki disease to reduce sub-

sequent coronary artery abnormalities. 4
may be considered if defervescence is not achieved in the rst
1 to 2 days. 7 SO R
~
4 SOR
REFERRAL O R HO SPITALIZE
for cases of complicated scarlet fever, streptococcal toxic shock,

staphylococcal scalded skin syndrome, rheumatic fever, acute
glomerulonephritis, or Kawasaki disease (when suspected).
FIGURE 28-5 Child re cove ring fro m Kawasaki d ise ase . Note the
conjunctival inje ction that still re mains. (Use d with p e rmission from
Gre g Thomp son, MD.) be considered in severe cases.
PART 5
174 CHAPTER 28
PRO GNO SIS decrease the incidence of recurrence and potential complications. 3
by septic shock and multi-organ failure, suppurative complications REFERENCES

such as peritonsillar abscess, or nonsuppurative complications such as
-
rheumatic fever or poststreptococcal glomerulonephritis.
tions. Clin Microbiol Rev.
Clin Infect Dis.
FO LLO W-UP
illness. Am Fam Physician.

a complication is suspected. -
-
graphic evaluation should be performed at the time of diagnosis, for health professionals from the committee on rheumatic fever,
4
endocarditis and Kawasaki disease, council on cardiovascular
studies show that repeat echocardiography performed 1 year after Circulation.
the onset of the illness is unlikely to reveal coronary artery enlarge-
ment in patients whose echocardiographic ndings were normal Red
4 SO R
Book: 2012 Report of the Committee on Infectious Diseases
PATIENT EDUCATIO N
penicillin treatment of group A streptococcal tonsillopharyngitis in
rash, and new symptoms or potential complications (meningitis,
sinusitis, otitis media, oropharyngeal abscess, pneumonia, acute Am Fam Physician.
glomerulonephritis, or rheumatic fever).
UPPER RESPIRATO RY INFECTIO NS PART 5
INCLUDING PHARYNGITIS 175
29 UPPER RESPIRATO RY parapharyngeal abscesses) and non-suppurative (acute rheumatic fever

and glomerulonephritis) complications.
INFECTIO NS INCLUDING
PHARYNGITIS EPIDEMIO LO GY
Brian Williams, MD
Me lissa A. Schole s, MD
primary care visits, respectively. 1
Mind y A. Smith, MD
Camille Sab e lla, MD to 90 percent of cases of pharyngitis in children. GABHS is respon-
sible for the majority of bacterial pharyngitis.
-
tis occurs from autumn until spring. This corresponds directly with
PATIENT STO RY circulating viruses over this period of time.
A mother brings her nine year-old daughter to the pediatrician’s of ce

1 to 5 years of age, who experience 7 to 8 colds per year; infants
with complaints of sore throat, fever, and malaise for 2 days. The girl
-
has not had cough or runny nose. The mother is concerned about strep 2
throat because a classmate of the daughter’s was just diagnosed with
this. On exam, the girl has erythematous tonsillar pillars, palatal pete-
chiae, and impressive cervical lymphadenopathy (Figure 29-1). A and adolescents.
throat swab for rapid streptococcal antigen is positive and the girl is
treated with penicillin VK for 10 days and recovers completely.
-
INTRO DUCTIO N
ruses), or direct hand-to-hand transmission (Rhinoviruses and RSV).
Upper respiratory tract infection (URI), also known as the common
cold, and pharyngitis, in ammation and pain of the pharyngeal tis-
sues, including the pharynx, tonsils and adenoids are among the most ANATO MY
common illnesses of childhood. URIs are characterized by rhinorrhea,
nasal congestion, and sore or scratchy throat. They are caused by (“tonsils”) and the superior pharyngeal tonsils (“adenoids”) together
viruses. Symptoms and signs of pharyngitis include throat soreness or make up Waldeyer’s ring. This ring of lymphoid tissue is favorably
scratchiness, fever, headache, malaise, rash, joint and muscle pains, located for airborne and food-related antigen exposure.
and cervical lymphadenopathy. Viruses are responsible for the major- -
ity of cases of pharyngitis in infants and children, although Group A Overall,
β -hemolytic streptococci (GABHS) are important causes of pharyngi- data show that adenotonsillectomy does not signi cantly affect the
tis because of their ability to cause suppurative (peritonsillar and immune system adversely.
in children; other viruses implicated include coronaviruses, respira-

tory syncytial virus (RSV), human metapneumovirus, in uenza
virus, parain uenza viruses, adenovirus, enteroviruses (i.e.,
herpangina), and human bocavirus.
and Neisseria gonorrhoeae are causes of pharyngitis in sexually active

adolescents.
in ammatory mediators, producing an in ammatory response of

polymorphonuclear cells such as albumin and bradykinins that are
responsible for the clinical symptoms of URI.
-
FIGURE 29-1 Erythema and edema of the pharynx, and palatal petechiae
in a child with Group A Streptococcal pharyngitis. (Used with permission
from CDC/Public Health Image Library/Heinz F. Eichenwald, MD.) and MRI scans of the sinuses and middle ear uid during URIs. 7,8
PART 5
176 CHAPTER 29
-
ryngeal mucosa by direct invasion of the mucosa or secondary to
suprapharyngeal secretions. 9 Other viruses, such as rhinovirus,
cause pain through stimulation of pain nerve endings by mediators,
such as bradykinin.
-
are responsible for the development of the scarlatiniform exanthem

(Figure 29-2). 10
-
yngitis can result in rheumatic fever and valvular heart disease. 11
Antigen–antibody complexes can lead to acute poststreptococcal
glomerulonephritis. These are the nonsuppurative complications of
GABHS infection.
-
ing bacteremia, otitis media, meningitis, mastoiditis, cervical
lymphadenitis, endocarditis, pneumonia, or deep neck abscess
formation (Figure 29-3).
RISK FACTO RS
FIGURE 29-2 Scarlatiniform rash in scarle t fe ve r. This 7-ye ar-old b oy

has a typ ical sand p ap e r rash with his stre p throat and fe ve r. The e ry-
the ma is p articularly conce ntrate d in the axillary are a. (Use d with
DIAGNO SIS p e rmission from Richard P. Usatine , MD.)
CLINICAL FEATURES
nasal congestion, irritability, and rhinorrhea, which may be clear or
A B
FIGURE 29-3 A. Peritonsillar abscess on the left showing uvular deviation away from the sid e with the abscess. B. Peritonsillar
abscess with swelling and anatomic d istortion of the rig ht tonsillar re g ion. (Use d with p e rmission from Charlie Gold b e rg , MD,
and The Re g e nts of the Unive rsity of California.)
FIGURE 29-4 Mononucle osis with consid e rab le tonsillar e xud ate .
(Use d with p e rmission from Trace y Cawthorn, MD.)
purulent. Mild to moderate enlargement of the anterior cervical

lymph nodes may be present.
sore or scratchy throat, sneezing, sinus fullness, malaise, and

hoarseness. Physical exam ndings are minimal and may include
FIGURE 29-6 Viral p haryng itis with visib le p alatal p e te chiae . Palatal
mild erythema of the pharyngeal or nasal mucosa. p e te chiae can b e se e n in all typ e s of p haryng itis. (Use d with p e rmission
lymphadenopathy, and fever are consistent with streptococcal phar-
yngitis. Headache and abdominal pain are common in children who positive predictive value for tonsillar exudate in strep throat is only
have streptococcal pharyngitis.
will have a nonstreptococcal cause.
Mononucleosis and other viral causes of pharyngitis commonly pro- -
duce tonsillar exudates in children (Figures 29-4 and 29-5). The placement of the involved tonsil and uvular displacement to the
contralateral side suggest peritonsillar abscess (Figure 29-2).
Trismus and anterior cervical lymphadenopathy with severe
tenderness to palpation are additional ndings.
Figures 29-1
and 29-6).
Figure 29-2, and
Figure 28-4).
-
tern on the posterior pharynx or palate (Figure 29-7). Although
it usually is more suggestive of a viral infection or allergic
rhinitis, lymphoid hyperplasia can be seen in strep pharyngitis
(Figure 29-8).
URI infection and are not consistent with GABHS infection.
viral etiologies is not indicated for most cases.

FIGURE 29-5 Viral p haryng itis showing e nlarg e d cryp tic tonsils with
some e rythe ma and e xud ate . (Use d with p e rmission from Richard P.
Usatine , MD.)
PART 5
178 CHAPTER 29
because the clinical features alone do not reliably discriminate

between GABHS and viral pharyngitis. In children and adolescents,
12
<
of age because these infections are uncommon in this age group. 12
have symptoms that are consistent with a viral URI, such as rhinor-
rhea, nasal congestion, and hoarseness.
-
tination, liposomal method, and immunochromatography assays;
the latter has the highest reported sensitivity (0.97), speci city
12
patient is colonized with GABHS but the bacteria are not the cause
of the acute disease (carrier state). GABHS is part of the normal
oropharyngeal ora in many school-aged children and the diagnosis
of acute streptococcal pharyngitis must include both the clinical
GABHS infection versus colonization can be challenging; the his-

tory and physical ndings of pharyngitis should be used to deter-
mine whether a throat culture should be performed.
FIGURE 29-7 Viral p haryng itis with p romine nt vascular inje ction of the
soft p alate and lymp hoid hyp e rp lasia. (Use d with p e rmission from -
Richard P. Usatine , MD.) coccal organism despite being the cause of the acute infection.
may bene t from having a speci c viral etiology identi ed. In these
cases, a nasopharyngeal swab or washing for respiratory viruses can percent lymphocytosis and 10 percent atypical lymphocytes. Sero-
- logic studies include a monospot and serum heterophil antibody
merase chain reaction testing, or viral cultures are the most com- titer. Testing may initially be negative and should be repeated in
monly used modes of viral detection in these settings. two weeks if clinical suspicion is high.
herpes infections, but the diagnosis is usually based on clinical

suspicion and ndings.
and localization of peritonsillar abscess and should be obtained if

further extension into the deeper neck is suspected such as a para-
pharyngeal or retropharyngeal abscess.
without constitutional symptoms; usually seasonal in nature and

family history of allergies is common. Physical exam ndings of
allergic “shiners” and “nasal salute” can help in the diagnosis
or severe symptoms of fever, purulent nasal congestion present for
FIGURE 29-8 Stre p p haryng itis with d ark ne crotic are a on rig ht tonsil
and p romine nt lymp hoid hyp e rp lasia in a cob b le stone p atte rn on the
p oste rior p harynx. (Use d with p e rmission from Richard P. Usatine , MD.) uvular edema, generalized symmetric lymphadenopathy,
when presenting in children. Progression of the disease can lead to

-
dition because of the preventive effect of the Haemophilus in uenzae
type b (HIB) vaccine.
-
cally seen in adults this can occur in children and adolescents. Sore
throat and painful swallowing are the most common presenting
symptoms, seen in more than 90 percent of cases. Muf ed voice
and drooling, dyspnea, stridor, and cough reported in less than
majority of cases. Unlike epiglottitis in children, HIB is responsi-

ble for less than 20 percent of supraglottitis cases but still accounts
for the majority of positive cultures. Supraglottitis is currently
more common than epiglottitis, because of HIB vaccine. Mortality
rates have been reported up to 20 percent.
FIGURE 29-9 He rp ang ina cause d b y Coxsackie virus virus. (Use d with have been immunized. However, it needs to be considered, espe-
p e rmission from Emily Scott, MD.)
cially in unvaccinated and immigrant populations. Pharyngeal diph-
theria presents with sore throat, low-grade fever, and malaise. The
and lethargy particularly in teenagers and young adults, is more pharynx is erythematous with a grayish pseudomembrane that can-
although the pharyngeal examination has a similar appearance to

GABHS (Figure 29-4). Tonsils often appear dirty-gray. Hepato- neuropathies.
Streptococcus, Fusobacterium
symptomatic and recovery can take weeks. Upper airway obstruc- necrophorum, Mycoplasma pneumoniae, Chlamydophila pneumoniae, and
tion can occur because of enlarged tonsils and adenoids and can be Arcanobacterium haemolyticum have all been isolated as bacterial
causes of pharyngitis.
because of the risk of splenic rupture15 stomatitis, pharyngitis, and cervical adenitis was rst described by
Mononucleosis). Marshall et al. in 1987. 17 The hallmark of this condition is the peri-
in the majority of cases (Figure 29-9). -

Candida -
with rashes, headaches, abdominal pain, and arthralgias. Between
cate oral Candida
episodes the child is asymptomatic. On physical exam, the child
usually exhibits an erythematous pharynx or tonsils and culture is
immunode ciency, and use of steroid inhalers.
usually GABHS negative. Treatment with steroids has been used
- which does shorten the febrile cycle. However, the asymptomatic
- periods between fevers also shortens. Treatment is usually tonsil-
coccal and syphilitic pharyngitis can all present with the symptom lectomy; a recent case series showed resolution of symptoms in 99
of sore throat. Neisseria gonorrhoeae of 102 patients undergoing this surgery. 18
of adolescents with acute pharyngitis and can manifest with acute
exudative tonsillitis. Although uncommon, these diagnoses should
be considered in high-risk populations.
MANAGEMENT
mouth. The wide distribution of ulcers with the rst case of herpes
simplex virus (HSV)-1 distinguishes this infection from other types NO NPHARMACO LO GIC
-
Cytomegalovirus -
competent host is usually asymptomatic. In the immunocompro- MEDICATIO NS
be used for symptomatic relief of discomfort, fever, and pain.
in the absence of coughing characterize acute epiglottitis, especially children.

PART 5
180 CHAPTER 29
An erythematous rash, sore throat, cervical lymphadenopathy,

are not helpful for the treatment of URI in children and are not vomiting, headache, fever, erythematous tonsils, and pharynx
recommended. 2 sometimes associated with a yellow exudate and tachycardia are
common manifestations. An enlarged, erythematous tongue with a
to infants because of the risk of life-threatening adverse effects. rash and enlarged papillae is also a common sign (strawberry
Treatment is similar to the treatment of streptococcal pharyngitis.

of URI. 19
-
mended for children with infectious mononucleosis who have severe
nephrogenic strains, but these strains account for less than 1 per-
tonsillitis causing airway obstruction. SO R However, there is no
cent of pharyngeal strains. The condition is due to the presence of
strong evidence to recommend steroids for patients with infectious
a common antigen of the glomerulus with the streptococcus and
mononucleosis who do not have airway obstruction. 20
occurs 2 weeks after the initial infection.
three times daily in children weighing less than 27 kg and 500 mg

-
two or three times daily for children and adolescents weighing
ized by a tic disorder or obsessive-compulsive disorder postulated
greater than 27 kg is rst-line therapy. Treatment in penicillin
allergic individuals should consist of a 10-day course of a rst gen-
can also exhibit abnormal movements and other neurologic symp-
eration cephalosporin if no history of anaphylaxis is noted, or
toms. It is postulated that this entity occurs from cross-reaction of
10 days of clindamycin or clarithromycin or 5 days of azithromy-
antibodies to the basal ganglia, similar what is seen in rheumatic
cin. 12
fever movement disorders. It is more common in boys and younger
doses every 12 hours is preferred over penicillin V because of
children. The association with GABHS has not been proven how-
palatability.
ever, and antibiotics do not seem to be bene cial. Immunoglobu-
lin, plasma exchange, and tonsillectomy have been proposed for
Penicillin G in combination with metronidazole, ampicillin-sulbactam, treatment, but there is little evidence for their bene t.
amoxicillin-clavulanate, and clindamycin. Route and duration of
therapy varies according to severity, need for surgical drainage,
REFERRAL
and response to therapy. 21
CO MPLICATIO NS immediately transported to an emergency department. Intubation

can be extremely dif cult and risky.
fever and earache may be signs of bacterial otitis media, while
persistent nasal symptoms or development of severe purulent
of choice in addition to using systemic antibiotics.
sinusitis.
chronic GABHS cases, or under certain other conditions (e.g.,
a child with underlying reactive airway disease. However,
there is no evidence to support tonsillectomy for isolated cases of
GABHS. 27
-
tion from the tonsil spreads from the superior pole to the potential
space between the tonsil and tonsillar capsule. These usually occur
unilaterally and have a characteristic appearance of swelling superi- PREVENTIO N AND SCREENING
olaterally to the tonsil and deviation of the uvula to the opposite
odynophagia, trismus, and drooling are common. Treatment is

drainage, usually via needle aspirate or open incision and drainage.
If a patient has two or more occurrences, a tonsillectomy is recom-
mended. 22 PRO GNO SIS
of the neck, high fevers, and any displacement if the pharyngeal

walls should raise suspicion. Associated shortness of breath may
be a warning sign of impending airway obstruction. Other com- children.
plications include aspiration, thrombosis, mediastinitis, and septic
shock. approximately one day and help to prevent transmission. Most
importantly, antibiotic treatment for GABHS pharyngitis greatly
pharyngitis with production of endotoxins by the bacteria. reduces the risk of rheumatic fever. 21
FO LLO W-UP ~
I <15 years (1 point).

I
I >
indicate a bacterial superinfection.
The probability of GABHS is approximately 1 percent with –1 to
-
ing treatment for streptococcal pharyngitis. This practice is likely
-
to lead to identi cation of streptococcal carriage (which is benign
ence of GABHS pharyngitis, it does predict the low likelihood of
GABHS when the score is low. This may help determine the need
infection. 28
breathing becomes more dif cult or severe headache develops.

REFERENCES
PATIENT EDUCATIO N
-
a viral and a bacterial infection to help them understand why antibi-

otics were prescribed or not prescribed. Antibiotic treatment for a
patient with an obvious viral infection is inappropriate, despite
time to explain the disease process is associated with greater patient (1998-2001). Eur Arch Otorhinolaryngol.
satisfaction than prescribing an antibiotic.
of the pharyngeal lymphoid tissue. Otolaryngol Clin North
Am.
effects, like rash, nausea, and diarrhea should be reviewed. adenoid tissue cultures. Am J Otolaryngol
to avoid contact sports because of the risk of splenic rupture. Emerg Infect Dis
-
PATIENT RESO URCES graphic study of the common cold. N Engl J Med
www.familydoctor.org/ familydoctor/ en/ diseases-
conditions/ sore-throat.html. children during respiratory infection evaluated with magnetic
www.nlm.nih.gov/ medlineplus/ ency/ article/ 000639. resonance imaging. Pediatrics
htm. Viral Pharyngitis
www.nlm.nih.
gov/ medlineplus/ infectiousmononucleosis.html. Bacterial Pharyngitis

the autoimmune pathogenesis of rheumatic heart disease.
guideline for the diagnosis and management of group A strepto- Autoimmunity.
-
Society of America. Clin Infect Dis line for the diagnosis and management of group A streptococcal
www.aapredbook.aappublications.org/ content/ .
- America. Clin Infect Dis
ability that pharyngitis is streptococcal in nature, and suggests
www.mdcalc.com/ modi ed- Essentials of Family Medicine
centor-score-for-strep-pharyngitis.
~ -
~ Absence of cough (1 point). dred ninety-six cases. Am J Otolaryngol.
~ Tender anterior cervical lymph nodes (1 point). -
~ Tonsillar swelling or exudates (1 point). osis. Clin Otolaryngol Allied Sci
PART 5
182 CHAPTER 29
obsessive-compulsive disorder and tic disorders in childhood.

Clin Obstet Gynecol. Lancet
-
periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. -
gologist. Laryngoscope
- -
Arch Otolaryngol Head Neck Surg. 2011;
Clin Infect for tonsillectomy in children? J Fam Pract.

Did 28. American Academy of Pediatrics. Group A Streptococcal infections.
mononucleosis. Cochrane Database Syst Rev.

22. Sugita R, Kawamura S, Icikawa G, et al. Microorganisms isolated
from peritonsillar abscess and indicated chemotherapy. Arch Oto- J Fam Pract
laryngol Head Neck Surg.
- -
tions ofWaldeyer’s ring. Otolaryngol Clin North Am ing practices, patient expectations, and patient satisfaction. Ann
Emerg Med.
plasma exchange and intravenous immunoglobulin for score in family practice. CMAJ
PART 5
ACUTE UPPER AIRWAY O BSTRUCTIO N 183
30 ACUTE UPPER AIRWAY SYNO NYMS

O BSTRUCTIO N
Kshama Dap htary, MBBS, MD, FAAP airway obstruction.
PATIENT STO RY -
chitis or pseudomembranous croup.
A 9-month-old infant is brought to the emergency department
because of a 1-hour history of a barky cough and dif culty breathing,
which followed a 2-day history of rhinorrhea and low-grade fever. He EPIDEMIO LO GY
does not appear toxic, but is tachypneic, and has inspiratory stridor
and suprasternal retractions. He is not drooling and has no change in -
voice. A dose of nebulized epinephrine is administered while awaiting ing emergencies in children, accounting for up to 15 percent of vis-
the results of his neck x-ray. The frontal view of an x-ray of the soft its to the emergency department. 1
tissues of the neck shows narrowing of the subglottic space (Steeple -
sign) (Figure 30-1). A diagnosis of croup is made and the infant is way obstruction and has an annual incidence of 18 per 1,000 chil-
given a dose of dexamethasone orally. Thirty minutes later, his stri- dren in the US; children between the ages of 6 months and 4 years
dor and retractions have resolved. are primarily affected, with a peak incidence of 60 per 1,000
among children 1 to 2 years of age. Although sporadic
cases occur throughout the year, croup is epidemic in early fall
INTRO DUCTIO N and winter. 2
Upper airway obstruction refers to blockage of any portion of the air-

introduction of the conjugated Haemophilus in uenzae type b vac-
way above the thoracic inlet or the extrathoracic airway. It is one of
cine, from 41 cases per 100,000 children in 1987 to 1.3 per
the most daunting emergencies faced by a physician and, if not
100,000 in 1997. 2,3
promptly diagnosed and managed, can progress to hypoxia and can
lead to cardio-respiratory arrest and irreversible brain damage. Stri-
dor, suprasternal retractions, and change of voice are the sentinel 0.1 cases per 100,000 children per year and has a peak incidence
signs of upper airway obstruction. in fall and winter. Although it affects all age groups, it occurs more
frequently in children between the ages of 6 months and 8 years.
Retropharyngeal abscess is more common in young children, with
the vast majority of cases occurring in patients younger than 6 years
of age. 2
adolescents.
potential to cause partial or complete airway obstruction. The
aspirated are peanuts, popcorn, hotdog, candy, and grapes.
the airway, obstruction at the level of the larynx and subglottis

assumes the greatest importance because the subglottis is the narrow-
est portion; therefore, even small lesions can become symptomatic.
-
lage and cannot expand in diameter. Should in ammation and
edema develop, the subglottic airway caliber is substantially
reduced as it contains loosely attached connective tissue.
FIGURE 30-1 Sub g lottic narrowing (“ste e p le sig n”) of croup on frontal
x-ray of the ne ck. (Use d with p e rmission from Kshama Dap htary, MBBS, ∆ η l/ π r4)
MD.) where ∆
PART 5
184 CHAPTER 30
TABLE 30-1 Common Cause s of Acute Up p e r Airway O b struction
Co ng e nit al
S aure us -
Fig ure 30-2)

Fig ure 30-3)
Fig ure 30-7).
Infe ct io ns
Fo re ig n b o d ie s
Mycop lasma Fig ure 30-8).

p ne umoniae
Vo cal co rd p aralysis
Stap hylococcus aure us is the
Stre p tococcus p yog e ne s malformation.
Stre p tococcus p ne umoniae othe r alp ha he molytic
stre p tococcal sp e cie s, Moraxe lla catarrhalis
ane rob e s are all p ossib le cause s.
Hae mop hilus in ue nzae typ e b is the
Trauma
S p yog e ne s S. p ne umoniae S. aure us
Burns, inhalat io nal injury
Kle b sie lla Pse ud omonas ae rug inosa Cand id a
sp (Fig ure 30-4). Alle rg ic
Stap hylococcus aure us

Fig ure 30-5).
S pyogenes
(Fig ure 30-6).
Ne o p lasms
S pyogenes
are also imp ortant source s of infe ction. Fig ure s 30-9 30-10).
FIGURE 30-2 FIGURE 30-3

This is a cause of cong e nital up p e r airway ob struction. (Use d with Use d with p e rmission from
p e rmission from Kshama Dap htary, MBBS, MD.) Kshama Dap htary, MBBS, MD.)
PART 5
FIGURE 30-4
Use d with p e rmission

from Kshama Dap htary, MBBS, MD.)
time (or velocity of ow); r is the radius; η is the viscosity of the

medium; and l is the length. Rearranging this equation gives us the
determinants of the resistance to laminar air ow, which is ∆
(8 η l/ π r4). However, when airway diameter is reduced, air ow
becomes turbulent and the resistance to turbulent ow is inversely
proportional to the fth power of the radius of the lumen of the
airway. Thus, a small decrease in the radius of the airway results in
a marked increase in resistance to air ow and work of breathing.
Table 30-1 shows the common causes of acute upper airway
obstruction. The etiology of upper airway obstruction differs by
age group with congenital abnormalities predominating in neo-
nates, and infectious agents accounting for the majority of cases in
B
infancy and early childhood.
FIGURE 30-5 Re trop haryng e al ab sce ss (arrow) on axial cut (A
sag ittal cut (B) CT scan. (Use d with p e rmission from Kshama Dap htary,
RISK FACTO RS MBBS, MD.)
Acute symptomatic upper airway obstruction can affect a normal air- DIAGNO SIS
with the following conditions are at higher risk for developing symp- CLINICAL FEATURES
tomatic upper airway obstruction:
are common to all types of upper airway obstruction. A quick evaluation
micrognathia, retrognathia (Figures 30-11 and 30-12), platybasia, should be performed to determine the site and cause of obstruction, the
or macroglossia). severity of obstruction, and the need to establish an airway urgently.
tachypnea, and increased work of breathing.

PART 5
186 CHAPTER 30
FIGURE 30-6
(Use d with p e rmission from Kshama Dap htary, MBBS, MD.)
aspiration.
-
ity to swallow, presence of drooling, exposure to allergens, and
immunization history may offer clues about the etiology.
FIGURE 30-8 (A)

(B) Use d with
p e rmission from Kshama Dap htary, MBBS, MD.)
-
mize disturbing the patient.
cause of obstruction include the physical appearance of the child,

the position of comfort that the child assumes, the character of
the noisy breathing, characteristics of the voice, the inability to
handle secretions, presence of swelling over the face or neck,
FIGURE 30-7
Use d with p e rmission the use of accessory muscles of respiration, and craniofacial
from Paul Krakovitz, MD.) anomalies.
PART 5
FIGURE 30-9 Sub g lottic cyst causing up p e r airway ob struction in a

Use d with p e rmission from Paul Krakovitz, MD.)
- FIGURE 30-11 Re trog nathia on scout CT scan. (Use d with p e rmission

from Kshama Dap htary, MBBS, MD.)
ical breathing, sternal retractions, gasping respiration, and decrease
in oxygen saturation are signs of impending respiratory arrest.
- LABO RATO RY TESTING
titis and foreign body aspiration, and may be precipitated by exami-
nation of the pharynx, the supine position or stressful procedures -
(e.g., intravenous canula insertion). If these conditions are deemed geal abscesses, epiglottitis and bacterial tracheitis.
to be unlikely, examination of the pharynx may be carried out.
-
beroptic nasopharyngolaryngoscopy can be done at the bedside. mentation rate may be elevated in patients with these infections.
Alternatively, exible or rigid laryngoscopy and bronchoscopy may
be performed in the operating room and may also prove therapeu-
tic (e.g., removal of a foreign body). most patients with acute urticaria or angioedema. However,
patients with recurrent angioedema without concomitant hives,
inability to ventilate with a bag-valve mask or a jaw-thrust that does including patients with angioedema associated with angiotensin-
not open the airway.
4
IMAGING
who are unstable.
accompany stable patients to the radiology department.
opaque foreign bodies and to screen for infections that cause upper
airway obstruction.
resonance imaging for vascular anomalies; these two tests and

echocardiography have replaced barium swallow to diagnose
vascular rings.
FIGURE 30-10 view of an x-ray of the neck or chest is the classic radiographic
infant. (Use d with p e rmission from Paul Krakovitz, MD.) nding in croup (Figure 30-1).
PART 5
188 CHAPTER 30
presence of gas or air- uid levels and loss of normal cervical lordo-
sis, in a lateral x-ray taken during inspiration with extension of the
neck suggests a retropharyngeal abscess.
usually assume a coronal orientation (Figure 30-8

foreign bodies generally obstruct immediately distal to the pyri-
form sinus, at the level of the aortic arch or at the cardia.
-
ated on the basis of age of the patient, onset of illness, prodrome,
symptoms and signs (Table 30-2).
MANAGEMENT
airway obstruction is life-threatening. Initial evaluation should be

directed to making triage decisions about management and further
evaluation.
with emergency stabilization of the airway receiving the highest

priority.
should promptly be ventilated with a combination of bag-valve-

mask technique and proper head positioning (slight neck extension,
chin lift and jaw thrust maneuvers). Oral and nasopharyngeal
airways should be available for use in case of dif culty in bag-
valve-mask ventilation.
by the physician most experienced in handling dif cult airways.
should be carefully monitored and offered supplemental oxygen in

a nonthreatening manner, keeping the patient as calm as possible
while de nitive treatment is instituted.
inhalation should be intubated early in a controlled atmosphere by

an experienced practitioner with a specialist capable of performing
B a tracheostomy present.
FIGURE 30-12 CT 3D re construction of re trog nathia b e fore (A) NO NPHARMACO LO GICAL

afte r (B) Use d with p e rmission from Kshama
Dap htary, MBBS, MD.) Cool humid i e d oxyg e n or air
- with croup. However, there is evidence showing that there is no

lar air space, and thickening of the aryepiglottic folds are the classic benefit. 5–7 SO R
ndings on a lateral neck x-ray taken during inspiration with hyper-
extension of the neck (Figure 30-4). He liox
but in some cases, the tracheal column appears hazy with multiple decreasing airway resistance to turbulent ow across the obstructed
irregularities within the lumen. airway.
PART 5
TABLE 30-2 Diffe re ntial Diag nosis of Common Cause s of Acute Up p e r Airway O b structio n
Bact e rial Re t ro p haryng e al

Cro up Trache it is Ep ig lo t t it is Ab sce ss Fo re ig n Bo d y
Ag e
O nse t
Usually low Usually hig h Hig h Hig h None
Up p e r re sp ira- Up p e r re sp iratory Usually none Up p e r re sp iratory Choking
tory
Coug h Brassy None Unusual Croup y
Ap p e arance Sick b ut Toxic Nontoxic
nontoxic -
Drooling No No Usually Usually

Course Usually b e nig n O ccasionally life -
thre ate ning
Sore throat None Usually ab se nt Usually None
Narrowing of Narrowing of sub - Incre ase p re -
ap p e arance the sub g lot- e p ig lottis (thumb assume coronal
tic sp ace trache al air col- - tissue sp ace orientation
(ste e p le umn may b e
sig n) on - thicke ning of ary- the e sophagus
nal irre g ularitie s
may b e p re se nt
several conditions that cause airway obstruction including croup ampicillin-sulbactam, is the preferred agent for peritonsillar and
and post-extubation subglottic edema. 8 To be effective, the helium:
oxygen ratio should be at least 60:40. SO R with a third-generation cephalosporin, are alternative therapies for
such conditions. SO R
MEDICATIO NS S aureus is often required for bacterial
Race mic e p ine p hrine tracheitis. In these situations, clindamycin or a penicillinase-resistant
penicillin (such as oxacillin or nafcillin) is often combined with a
vasoconstrictive effect on the vasculature of the airway musculature. third generation cephalosporin. Vancomycin may be used in patients
that appear toxic, have multiorgan involvement, or if methicillin-
resistant S. aureus is prevalent in the community. In most cases, clini-
in symptoms for croup. 9 SO R cal improvement should be seen within 24 to 48 hours. SO R
Corticoste roid s O the r
-
10
secondary to edema as a result of infection, allergy, and trauma. ers (H1 and H2), corticosteroids, and epinephrine if symptoms
are severe.
6 hours. 11
steroidal anti-in ammatory drugs and angiotensin-converting
need for other drugs and decrease the length of hospital stay or enzyme inhibitors, should be discontinued. Hereditary angioedema
return visits. 11 SO R may be refractory to this treatment.
-
extubation stridor. 12 SO R ase inhibitors should be administered. 13–15
inhibitors, ecallantide and icatibant are recommended in adults but
Antib iotics are not currently approved for use in children. 16 If no other treat-
ment that has been proved to be effective is available, fresh frozen
epiglottitis. SO R plasma should be used. 17 SO R
PART 5
190 CHAPTER 30
quadrivalent human papilloma virus vaccine holds promise for

resection. Adjuvant pharmacotherapy with interferon-alfa and anti- preventing recurrent respiratory papillomatosis. 22
virals given systemically or intralesional cidofovir may be consid-
ered. 18,19
PRO GNO SIS
used successfully in one patient. 20 SO R
SURGERY
pulmonary edema once the obstruction is relieved and should be
carefully monitored. 23
establish a secure airway.
expected in most cases of upper airway obstruction.
diagnostic and therapeutic purposes.
48 hours.
drainage.
than 3 percent of the hospitalized patients are intubated. 1
- is low.
cal intervention.
as 18 to 40 percent. Associated morbidity includes pneumonia,
REFERRAL 24,25
should be made for immediate evaluation by an anesthesiologist and tonsillar infections caused most commonly by Fusobacterium necroph-
otolaryngologist to secure the airway in the operating room. orum and characterized by ipsilateral internal jugular vein thrombo-
- sis and septic emboli most commonly affecting the lung and causing
geal or peritonsillar abscesses, foreign bodies, subglottic stenosis, pulmonary abscesses.
vocal cord palsy, or other causes of airway obstruction are sus-
pected that need further evaluation and surgical intervention. surgeries, often 20 procedures during their lifetimes. 19 The risk of
- malignant transformation is less than 1 percent. 26
ever hereditary angioedema is suspected.
erate to severe airway obstruction as they need to be monitored in www.nlm.nih.
the intensive care unit because of the potential for decompensation. gov/ medlineplus/ ency/ article/ 000067.htm.
www.ncbi.nlm.nih.gov/
PREVENTIO N AND SCREENING pubmedhealth/ PMH0001983.
www.nlm.nih.gov/
medlineplus/ ency/ article/ 001456.htm.
such as frequent hand washing.
H. in uen- REFERENCES
zae type b vaccine. 3 SO R
Am Fam
- Physician. 2011;83(9):1067-1073.
cated about their disease with attention to the identi cation and
avoidance or elimination of precipitating factors that may trigger
acute attacks such as trauma, mental stress, infections, angiotensin Respir Care. 2003;48(3):248-260.
converting enzyme inhibitors, and estrogen contraceptives. 14,16 -
-
MMWR Morb Mortal Wkly Rep. 1998;47(46):993-998.
procedure likely to precipitate an attack. 14,16 SO R
treatment for long-term prophylaxis in hereditary angioedema. angioedema. Ann Allergy Asthma Immunol. 2012;109(6):395-402.
Attenuated androgens may be used in children over 16 years of age.
The anti brinolytic drugs, ε-aminocaproic and tranexamic acid,
although less effective, may offer some bene t. 16,21 croup in emergency departments. JAMA. 2006;295(11):1274-
- 1280.
illoma virus, most commonly types 6 and 11, and is transmitted
from the mother to the child either in utero or at the time of birth, Cochrane Database Syst Rev.
PART 5
Fam Pract. 2007;24(4):295-301.

- angioedema. Ann Allergy Asthma Immunol. 2012;109:395-402.
Paediatr Respir Rev
Reviews 2012, Issue 12.

Cochrane Database of Systematic Reviews 2011, Issue 2.
Otolaryngol Clin North Am. 2012;45(3):671-ix.
in children. Am J Respir Crit Care Med. 2012;185(1):12-23.
human papillomavirus vaccination. Arch Dis Child. 2011;96:

Reviews 2011, Issue 1. 476-477.
prevention and treatment of post-extubation stridor in neonates,

children and adults. Cochrane Database of Systematic Reviews 2009,
Issue 3. complicating upper airway obstruction in infants and children.
- Can Assoc Radiol J. 1992;43(4):278-282.
-
associated with airway obstruction. Can J Anaesth. 1990;37(2):
recommendations for the therapeutic management of angioedema 210-8.
Allergy 2012;67:147-157. J S C Med Assoc. 1993;89:83–87.

Curr Opin
Pediatr. 2012;24(5):638-646. a therapeutic approach. Laryngoscope 2010;120:2498-2501.
-
ing in recurrent respiratory papillomatosis with pulmonary in-
treatment of acute hereditary angioedema: a pediatric cohort volvement: emerging common pattern of clinical features and
Pediatr Allergy Immunol. human papillomavirus serotype association. Mod Pathol.
2013;24:54-60. 2000;13:914-918.
document. Allergy, Asthma &Clinical Immunology 2010;6:22.

PART 5
192 CHAPTER 31
31 CHRO NIC UPPER ETIO LO GY AND PATHO PHYSIO LO GY

AIRWAY O BSTRUCTIO N—
LARYNGO MALACIA -
Anne Hse u, MD rity of cartilage, neurologic underdevelopment affecting laryngeal
Paul Krakovitz, MD function, and tone. 1
RISK FACTO RS
PATIENT STO RY
A 4-month-old infant presents to your of ce with noisy breathing. His

mother notes it began at a few weeks of life and has gradually worsened.
The noise is described as a high-pitched wheeze with inspiration. It worsens
when the baby is feeding, crying, or supine. Laryngoscopy con rms the
diagnosis of laryngomalacia (Figure 31-1). The infant is treated with acid
suppression therapy. The infant’s symptoms resolve by 18 months of age.
Laryngomalacia is a congenital abnormality of the larynx. It results in CLINICAL FEATURES

dynamic collapse of supraglottic structures leading to airway obstruction.
crying, supine, or positioning.
SYNO NYMS
and usually resolve by 12 to 24 months.
Laryngomalacias, Larynx chondromalacia.
choking, and slow feeding.
EPIDEMIO LO GY
pectus excavatum, and failure to thrive.
-
PRO CEDURES
cent of all infants with congenital stridor. 1
inspiration, omega-shaped epiglottis, retroflexed epiglottis,

foreshortened aryepiglottic folds, and redundant arytenoid
tissue (Figure 31-1).
synchronous airway lesions.
LABO RATO RY TESTING AND IMAGING
lesion, may consider bronchoscopy or imaging.
subglottic airway (Figure 31-2).
Figure 31-3).
FIGURE 31-1 Multip le vie ws of laryng omalacia in one infant. Note the
ome g a-shap e d e p ig lottis and p rolap se of re d und ant sup rag lottic
tissue into the airway. (Use d with p e rmission from Paul Krakovitz, MD.) both vocal cords (Figure 31-4).
CHRO NIC UPPER AIRWAY PART 5
O BSTRUCTIO N— LARYNGO MALACIA 193
NO NPHARMACO LO GIC
infants will have mild disease. 1
can be managed expectantly.
MEDICATIO NS
dif cult to feed. Treatment with acid suppression therapy may

improve symptoms and shorten the duration of laryngomalacia’s
natural course. 3 SO R
ranitidine or proton pump inhibitors such as omeprazole.
SURGERY
FIGURE 31-2 Sub g lottic ste nosis. Note the true vocal cord s late rally
-
and the are a of airway narrowing se e n just d istally in the sub g lottis.
(Use d with p e rmission from Paul Krakovitz, MD.)
apneas, aspiration or feeding dif culties, failure to thrive, and cor

pulmonale. 4 SO R
MANAGEMENT
tissue is removed endoscopically (Figure 31-5
also include a thorough airway assessment to rule out secondary
airway pathology.
disease. This is based on associated feeding and obstructive symp-
patients with multiple medical comorbidities. SO R

co-morbidities, presence of secondary airway lesions, and baseline
REFERRAL
severity. 2 to have moderate to severe disease.
A B
FIGURE 31-3 A. End oscop ic vie w of a normal trache a. B. End o scop ic vie w of trache omalacia. Note the ante rior-p oste rior collap se of the trache a
se e n just ab ove the carina. (Use d with p e rmission from Paul Krakovitz, MD.)
PART 5
194 CHAPTER 31
FIGURE 31-5 Sup rag lottop lasty. Fo re shorte ne d arye p ig lottic fold s are
d ivid e d b ilate rally. (Use d with p e rmission from Soham Roy, MD.)
PATIENT RESO URCES

www.emedicine.medscape.com/ article/ 1002527-
overview.
FIGURE 31-4 Bilate ral vocal cord p aralysis with rig ht and le ft true PRO VIDER RESO URCES
vocal cord s sitting in a p arame d ian p osition. (Use d with p e rmission
from Paul Krakovitz, MD.) www.ncbi.nlm.nih.gov/ pmc/ articles/ PMC3299329.
REFERENCES
PREVENTIO N AND SCREENING -
tion, spectrum, and management. Int J Pediatr
severe disease that may warrant otolaryngology consultation. 2. . Abnormal sensorimotor integrative function of
Laryngoscope.
FO LLO W-UP
-
verity and outcomes of management. Curr Opin Otolaryngol Head
warrant close follow-up with otolaryngology. Neck Surg
-
malacia. Otolaryngol Clin North Am
ration and need for surgical intervention. Ann Otol Rhinol Laryngol.
THYRO GLO SSAL DUCT CYST AND PART 5
O THER HEAD AND NECK MASSES 195
SECTIO N 4 NECK
32 THYRO GLO SSAL DUCT acutely infected as a tender mass in the midline neck near the level
CYST AND O THER HEAD of the hyoid. It is postulated that lymphoid tissue of the neck close
AND NECK MASSES to the thyroglossal structures reacts to repeated upper respiratory
infections and this infectious irritation may stimulate epithelial
Karthik Rajase karan, MD remnants to undergo cystic change.
Pe te r Re ve naug h, MD
Paul Krakovitz, MD RISK FACTO RS
PATIENT STO RY acquiring this mass.
A 6-year-old boy is brought to his pediatrician with a 2-day history of DIAGNO SIS
fevers and cough. During the exam, the pediatrician notes a mass in
the neck. His father rst noticed it this morning. The mass is approxi- A good history of the present illness is paramount in the diagnosis and
mately 2 × 2 cm in size and located at the level of the hyoid in the management of a neck mass. Important details include age that the mass
midline of his neck (Figure 32-1). It is well circumscribed, with ery- was rst noted, clinical signs, rate of growth and constitutional symp-
thematous, and tender overlying skin. The mass moves when the boy toms, recent travel outside of the US, and cat exposure.
swallows. The pediatrician suspects a thyroglossal duct cyst and refers
to pediatric otolaryngology. The surgeon recommends complete exci- CLINICAL FEATURES
sion to the father. After the upper respiratory infection has resolved,
the thyroglossal duct cyst is removed completely under general anes-
erythematous, and tender midline neck mass (Figures 32-1
thesia with no complications. The boy recovers completely.
and 32-2).
INTRO DUCTIO N
dysphonia, and/ or a discharging sinus.
Thyroglossal duct cyst is a congenital neck mass that occurs during
development, as the thyroid descends from the base of the tongue to
its paratracheal location.
diagnostic sign because of the thyroglossal duct’s close association
with the hyoid bone and foramen cecum.
SYNO NYMS
Ectopic cervical thyroid.
EPIDEMIO LO GY
cysts.1
masses. 2
descends from the base of tongue to its paratracheal location and

remains connected by the thyroglossal duct, which involutes between
FIGURE 32-1 Thyroglossal duct cyst in a 6-year-old boy. The mass is in
portion of this duct, which is known as a thyroglossal duct cyst. central portion of the neck. (Used with permission from Paul Krakovitz, MD.)
PART 5
196 CHAPTER 32
I Dermoid—Epithelium entrapped in tissue during embryogenesis.

Dermoids are usually attached to the skin.
~ Lateral neck mass.
I
which arise from incomplete obliteration of the pharyngeal

pouches and clefts during embryogenesis (Figure 32-4).
I
masses.
ISimilar clinical presentation as thyroglossal duct cyst—Usually
presents after an upper respiratory infection as a painful,
erythematous neck mass.
IImaging and diagnostic work up similar to thyroglossal duct
FIGURE 32-2 A thyro g lossal d uct cyst in a young g irl. Note how it is
close to the mid line . The se will move up with swallowing . (Use d with cyst.
p e rmission from Frank Mille r, MD, and Usatine R. De rmatolog ic and ITreatment is complete surgical excision (Figure 32-5).
Cosme tic Proce d ure s in O f ce Practice . Else vie r, 2012.) ~ Cystic lymphangioma:
I -
LABO RATO RY TESTING tuant (Figure 32-6).
I
etiology. lymphatic system that typically presents during infancy, and

has a tendency to grow unless it is completely excised.
6
evaluation of a midline neck mass but may be helpful in the I
work-up of other pediatric neck masses are: I Imaging and diagnostic work up similar to thyroglossal duct
~ Bartonella titers—To rule out cat scratch disease. cyst.
~ Toxoplasma titers.
I Treatment of choice is complete surgical excision.
~
IMAGING
-
pected thyroglossal duct cyst (Figure 32-3). It is helpful prior to
removal of the cyst to ensure that there is normal thyroid tissue and
that the cyst does not represent an ectopic thyroid.
-
residual sinus tract in cases of recurrent disease.
FIGURE 32 -4 Typ e I b ranchial cle ft cyst in the p ost-auricular are a of

this child . Typ ically, the se o ccur in a p e ri-auricular p atte rn, more com-
mo nly ante rio r and infe rio r and d o wn to the jaw line . Diffe re ntial d iag -
no sis fo r this lo catio n includ e s lymp ho vascular ano malie s, mastoid itis,
d e rmoid , or e p id e rmal inclusion cysts. The re curre nt nature of the
FIGURE 32-3 Thyrog lossal d uct cyst on ultrasound of the ne ck. ab sce sse s and imag ing o n this child p o inte d to the d iag no sis of a
(Use d with p e rmission from Camille Sab e lla, MD.) b ranchial cle ft cyst. (Use d with p e rmissio n from Paul Krako vitz, MD.)
THYRO GLO SSAL DUCT CYST AND PART 5
O THER HEAD AND NECK MASSES 197
FIGURE 32-5 A b ranchial cle ft cyst afte r re moval. (Use d with p e rmis-
sion from Frank Mille r, MD and Usatine R. De rmatolog ic and Cosme tic
Proce d ure s in O f ce Practice . Else vie r, 2012.)
present as red or bluish soft multi-locular masses (Figure 32-7).

FIGURE 32 -7 Classic he mang io ma with e rythe mato us cutane o us
~
p laq ues on a soft tissue mass. (Use d with p ermission from Paul Krakovitz,
in a disorganized fashion, which readily expand in a dependent MD.)
position and with raised venous pressure (Figure 32-8).
~ MEDICATIO NS
cervical adenopathy that comprises a wide variety of clinical
However, medical treatment of an infection prior to surgical
resection is reported to help decrease the rates of post-surgical
recurrence. SO R
MANAGEMENT
SURGERY
NO NPHARMACO LO GIC
entire cyst including the central portion of the hyoid bone and
lab work, and possibly imaging would be appropriate rst steps. focused tongue base excision of the foramen cecum (commonly
known as the Sistrunk procedure) is necessary. SO R
can be acquired.
FIGURE 32-8 Ve nous malformation. Ap p e arance can b e similar to

he mang ioma. Howe ve r, the y have d iffe re nt characte ristics on imag ing
FIGURE 32-6 Cystic lymp hang ioma in an infant. Note the soft and uc- and d o not “re g re ss” like a he mang ioma. (Use d with p e rmission fro m
tuant ap p e arance . (Use d with p e rmission from Fe d e rico Se ifarth, MD.) Paul Krakovitz, MD.)
PART 5
198 CHAPTER 32
REFERRAL REFERENCES
is made or suspected. tract remnants. The Laryngoscope
otolaryngology consultation. gland prior to thyroglossal duct cyst excision. Archives of

otolaryngology— head &neck surgery
PRO GNO SIS Head &neck surgery
Sistrunk procedure, patients frequently do very well.

personal experience and literature review. Auris, nasus, larynx.
12.2 percent of patients, in the most recent literature. 8,9

-
lies in the pediatric population. Otolaryngol Head Neck Surg
repeated infections, dysphagia, dysphonia, and/ or draining sinus.
FO LLO W-UP endobronquial involvement presenting as chronic cough. Chest.
there is no further evidence of infection or clinical evidence of

recurrence. procedure in a pediatric population. International journal of pediatric
otorhinolaryngolog
PATIENT RESO URCES
www.thyroidcancer.com/ thyroglossal-duct-cyst.html. thyroglossal duct cysts in children. Pediatrics international:
of cial journal of the Japan Pediatric Society
PRO VIDER RESO URCES -
glossal duct cysts: presentation and management in children versus
Diagnosis and Treatment Submandibular and Sublingual Spaces. adults. International journal of pediatric otorhinolaryngology.
Otolaryngol Clinics of North Am
PART 5
LYMPHADENO PATHY 199
33 LYMPHADENO PATHY SYNO NYMS

Samantha Anne , MD, MS
Lymphadenitis, lymph node enlargement.
David Mand e ll, MD
EPIDEMIO LO GY
PATIENT STO RY
A 2-year-old girl presented to her pediatrician with a one month childhood with nearly 2/ 3 of them developing enlarged nodes
history of swollen glands in her neck and under her arms. Physical within infancy. 2
examination revealed non-tender rm lymphadenopathy in the ante-
rior and posterior lymph node chains bilaterally (Figure 33-1).
Work-up revealed anemia, neutropenia and thrombocytopenia. ETIO LO GY AND PATHO PHYSIO LO GY
Biopsy of the lymph nodes and bone marrow biopsy showed acute
lymphoblastic leukemia. She underwent induction chemotherapy
and has responded well. antigenic material such as infectious agents from lymphatics
draining from areas of in ammation.
INTRO DUCTIO N enlarge in size largely due to proliferation of cells intrinsic to the
node such as plasma cells, macrophages, and others.
Lymphadenopathy refers to nodes that are abnormal in either size,
consistency, or number. In children, causes of lymphadenopathy cells. 2
can be divided into two large groups-in ammatory versus malig-
nant. Cervical adenopathy due to in ammatory causes is by far the
most common. Malignancy is less common but must be considered RISK FACTO RS
in the differential diagnosis based on certain concerning features in
the history and physical exam.
commonly associated with exposure to pathogens.
centers.
exposures, including Bartonella henselae infection from a cat scratch

and toxoplasmosis from exposure to cat feces.
intravenous drug use, or unprotected sexual behavior.
in nature, such as exposure to coccidiomycosis in the southwest

US and histoplasmosis exposure in the southeastern or central
US.
with the development of lymphadenopathy.
the site of the infection.
nasopharyngeal carcinoma.
DIAGNO SIS
FIGURE 33-1 Firm, nonte nd e r p re -auricular and p oste rior ce rvical CLINICAL FEATURES
lymp had e nop athy in a 2-ye ar-old g irl. This, along with p ancytop e nia,
we re the p re se nting fe ature s of acute le uke mia. (Use d with p e rmission -
from Camille Sab e lla, MD.) eralized lymphadenopathy in the rest of the cases.
PART 5
200 CHAPTER 33
A B
FIGURE 33-2 Unilate ral le ft-sid e d fullne ss with con rme d ab sce ss formation in a child ab out to und e rg o d rainag e p ro ce d ure
(A). Note the skin b lanching d ue to und e rlying ab sce ss formation (B). (Use d with p e rmission from Prashant Malhotra MD.)
1
growing bacterial or viral infections such as cat-scratch disease or
nontuberculous mycobacterial infection (Figures 33-5 and 33-6).
staphylococcal, or viral infections (Figures 33-2 and 33-3).
include some of the causes of subacute or chronic lymphadenopa-
such as infectious mononucleosis or viral upper respiratory thy, such as nontuberculous mycobacterial infection, which is
infections (Figure 33-4). usually a nontender lymphadenopathy with xation of the node
to the skin (see Figure 33-5 and 33-6).
-
nancy include persistent nontender adenopathy with a size greater
than 2 cm, constitutional symptoms such as fevers, night sweats, or
FIGURE 33-4 Ante rior and p oste rior ce rvical lymp had e nop athy in a
FIGURE 33-3 Acute lymp had e nitis and ab sce ss in a 9-month-old school-ag e d child . This is most commonly of viral e tiolog y. (Use d with
infant. (Use d with p e rmission from Emily Scott, MD.) p e rmission from Johanna Gold farb , MD.)
PART 5
FIGURE 33-5 Sub acute , ce rvical lymp had e nop athy in a 3-ye ar-old g irl.
Note the d iscoloration and p roximity of the lymp h nod e to the skin.
This can b e cause d b y cat scratch d ise ase or nontub e rculous mycob ac-
te ria. (Use d with p e rmission from Camille Sab e lla, MD.)
weight loss, and adenopathy in certain unusual locations such as the

supraclavicular region and in some cases, the posterior neck. 3
FIGURE 33-7 Rap id ly e nlarg ing lymp h nod e s in the same g irl as in
concern for malignancy (Figure 33-7). Fig ure 33-1. Note the discoloration, likely due to stasis from large mat-
ted lymp hadenop athy. (Used with p ermission from Camille Sab e lla, MD.)
DISTRIBUTIO N
-
-
- attained based on clinical suspicion.
esophageal groove.
medications.
incidence of malignancy than other more common cervical loca-
tions and further evaluation should be considered even if the size is
less than 2 centimeters. for neuroblastoma.
-
itive diagnosis, especially when malignancy needs to be excluded.
IMAGING
infections to differentiate lymphadenitis and cellulitis from

suppuration and abscess formation.
-
-
sound results can be signi cantly operator-dependent (Figure 33-8).

FIGURE 33-6 Nontub e rculous mycob acte rial ad e nitis in a young g irl.
Note the d iscoloration and the close p roximity of the nod e to the skin.
(Use d with p e rmission from Johanna Gold farb , MD.) differentiated into in ammatory versus malignant causes.
PART 5
202 CHAPTER 33
MANAGEMENT
supraclavicular nodes, systemic symptoms, xation or hard masses,

abnormal chest x-ray ndings, or rapid enlargement or increase in
adenopathy in the absence of obvious infection. 2 SO R
hydration, and pain control is reasonable in acute adenopathy

from viral causes and with no concerning features in the history
and physical exam.
of cases of acute lymphadenopathy, especially in children,

are due to transient, self-limited diseases, such as viral upper
sequelae.
FIGURE 33-8 He te rog e ne ous e nlarg e d lymp h nod e b e twe e n the
le ft p arotid and sub mand ib ular g land s on ultrasound in a child with MEDICATIO NS
non-tub e rculous mycob acte rial infe ction. (Use d with p e rmission from
Camille Sab e lla, MD.)
viral medication, depending on the type of virus, the severity of the
symptoms, and the immune status of the host.
which commonly cause nonspeci c, reactive lymphadenopathy and sometimes surgical drainage.
cat-scratch disease, protozoan and fungal infections, as well as

sexually transmitted diseases, may be treated medically and
or staphylococcal upper respiratory infections, mycobacterial or occasionally surgically, depending on the infecting organism, the
atypical mycobacterial, cat scratch disease, and bacterial adenitis. severity of the symptoms, and the immune status of the patient.
(Figure 33-9). current treatment protocols speci c for each disease.
2
SURGERY
and curettage, and excision/ excisional biopsy (Figure 33-10).

rhabdomyosarcoma, neuroblastoma, and nasopharyngeal carcinoma.
followed by antimicrobial/ antifungal therapy based on culture
results.
impending complications, or severe systemic illnesses should

undergo incision and drainage. 2 SOR
cases of nontuberculous mycobacterial adenopathy due to incidence

of sinus tracts and development of chronic drainage whenever there
is concern for malignancy. 2,4 SO R
REFERRAL
-
ogy is important to determine need for surgical intervention and to
aid in attaining cultures.
FIGURE 33-9 O ccip ital lymp had e nop athy se cond ary to tine a cap itis. -
(Use d with p e rmission from Richard Usatine , MD.) tation is important.
PART 5
PATIENT EDUCATIO N
with increasing size and number of lymph nodes, development of

constitutional symptoms in addition to lymphadenopathy, and with
persistence of enlarged lymph nodes.
PATIENT RESO URCES

www.webmd.com/ a-to-z-guides/ swollen-lymph-
nodes-topic-overview.
FIGURE 33-10 Ab sce ss of the child in Fig ure s 33-2, surg ically incise d
with re sultant cop ious p urule nt d rainag e e licite d . (Use d with p e rmission
from Prashant Malhotra MD.)
www.entnet.org/
EducationAndResearch/ upload/ AAO-PGS-9-4-2.pdf.
REFERENCES
the incidence of benign reactive lymphadenitis in children. -
- tion. Am Fam Physician.
ciated with lymphadenopathy such as rubella, rubeola, and varicella. Pediatric Otolaryngology.
-
PRO GNO SIS
-
Otolaryngology-head &neck surgery
nopathy can result in progression of illness resulting in systemic
-
toxicity, suppuration, vascular complications such as venous
thrombosis, and/ or airway compromise.
4.
and worsened prognosis.
-
ment for nontuberculous mycobacterial cervicofacial lymphadenitis
FO LLO W-UP Clin Inf
Dis
response to treatment will determine the timing of follow-up and

need for further testing.
PART 5
204 CHAPTER 34
34 CO NGENITAL ANO MALIES management of children with these anomalies and then outline an ana-
tomic approach to considering these abnormalities using some illustra-
O F THE HEAD AND NECK tive photographs of those commonly encountered or unique entities.
Consensus terminology is critical for discussion. An anomaly is a
Kare n Hawle y, MD structural or functional defect, which is present at the time of birth.
Kyra O sb orne , MD A malformation is a major defect that is the result of incorrect mor-
Prashant Malhotra, MD, FAAP phogenesis. A sequence is a series of defects that occur in a nonrandom
fashion. A single event then leads to a series of malformations. Pierre-
Robin sequence is an example of a sequence. An association is encoun-
tered when there is a tendency of some malformations to occur to-
PATIENT STO RY
gether more commonly than would be expected by chance, but are not
considered to be a part of an established malformation syndrome. An
A newborn male, day of life 0, presented with respiratory distress
example is the CHARGE association, which includes coloboma, heart
requiring intubation. He was noted to have low set ears, microgna-
anomaly, choanal atresia, retarded growth, genital, or ear anomalies. 1
thia, and a cleft palate. Upon closer examination, he was also noted
to have a right-sided complete aural atresia and the left canal is ste-
notic. His midface appeared hypoplastic and he was noted to have a
DIAGNO SIS
cleft palate. A genetics consult was obtained and the patient was diag-
nosed with Treacher Collins syndrome (Figure 34-1). Surgical
CLINICAL FEATURES
repair of palate was performed at 10 months of age, and a softband
bone conduction device was provided in infancy for hearing habilita-
tion. The family was counseled regarding ultimate options for thorough head and neck examination is recommended.
reconstruction of microtia and aural atresia.
essential. This includes observation of retractions and desatura-
tions, listening for stridor, stertor, as well as evaluation of the
INTRO DUCTIO N voice. Stridor is generally a higher pitched sound and can occur
during inspiration, expiration, or both. Stertor sounds more like
Congenital anomalies in the head and neck are numerous and varied. snoring and occurs on inspiration, and is more indicative of
In this chapter, we provide a general approach to the diagnosis and obstruction in the nasal cavity, nasopharynx, or oropharynx.
A B
FIGURE 34-1 Tre ache r Co llins synd rome in an infant with se ve re manife stations, as se e n on late ral (A) and frontal (B) vie ws. Note the
microtia (und e rd e ve lop e d p inna) and aural atre sia. Se ve re maxillary and zyg omatic hyp op lasia le ad s to d ownslop ing late ral canthi.
This infant also has a facial p it and cle ft p alate . (Use d with p e rmission from Prashant Malho tra, MD.)
PART 5
CO NGENITAL ANO MALIES O F THE HEAD AND NECK 205
A hoarse, quiet, or raspy cry may indicate vocal cord pathology

such as cord immobility or mass. HEAD AND NECK ANO MALIES BY
ANATO MIC SITE
facial asymmetry, low set ears, or down-slanting palpebrae may
The more common head and neck anomalies will be discussed by
help to identify syndromic pathology. Skin changes such as skin
anatomic site. A tabular summary will include basic epidemiology,
tags, sinuses, and vascular malformations should be noted.
evaluation, and management.
Table 34-1; Figures 34-2 to 34-4)
also assessment of canal patency for atresia. Routine examination of
Embryology—At approximately 3 weeks of gestation, the nasal
the tympanic membrane and middle ear is also critical. A newborn
placodes develop as invaginations of neural crest cells from the frontal
hearing screen with consideration of both auditory brainstem
prominence into nasal pits. These deepen to eventually create medial
responses and otoacoustic emissions testing should be discussed
and lateral nasal prominences. Posteriorly, the nasobuccal membrane
with an audiologist or neonatologist if appropriate.
forms to separate the nasal and oral cavity. Failure of this membrane
to degenerate causes choanal atresia.2–4
central hair, which could be indicative of a nasal dermoid. Anterior
nasal rhinoscopy can be performed using an otoscope to assess for
columella, philtrum, and primary palate. The maxillary promi-
nasal mass or lesion. If there is suspicion for nasal obstruction, a
nences fuse in the midline posteriorly creating the secondary palate
5 or 6 French catheter should be passed. If resistance is met, this
(posterior to the incisive foramen) and to the medial nasal promi-
may indicate intranasal obstruction. The need for nasal endoscopy
nences anteriorly forming the upper lateral lip. Failure of all three
can be determined by referral to a pediatric otolaryngologist.
fusions to occur (medial nasal prominence to maxillary promi-
nences, left and right, and maxillary prominences in the midline)
cavity and posterior oropharynx as well as bimanual palpation of will create a bilateral complete cleft lip and palate. 2–4
the oor of mouth and assessment of the infant’s lip and palate.
of the frontal bone there is a transient fontanelle. A pyramidal
shaped extension of dura extends inferiorly toward the osseocarti-
abnormalities, routine exam of the eyes should be performed laginous junction of the nasal bridge. This is temporarily congruent
and ophthalmology consultation obtained if needed. with the epidermal elements of the nasal dorsum and protrudes
- through the skull base at the foramen cecum. Failure of these layers
ined by a pediatric otolaryngologist. In the patient who is awake, to separate can cause a variety of midline nasal masses such as
a bedside exible nasolaryngoscopy allows for a dynamic airway dermoids and neurogenic nasal deformities. 3,5
exam. If warranted, a complete airway evaluation in the operating
Congenital Ear Anomalies (Table 34-2; Figures 34-5 and 34-6)
room includes a direct laryngoscopy with rigid and/ or exible
bronchoscopy. The need for such an exam depends on the Embryology—The otic placode is present at the third week of
clinical scenario and is a decision to be made by the consulting gestation. The auricle is derived from the six hillocks of His, from
otolaryngologist. the rst and second branchial arches, that are present by the sixth
week of gestation. These form the tragus, antitragus, antihelix,
helix, lobule, and the helical crus. The hillocks have fused by week
LABO RATO RY DATA 12. Cartilage formation begins in the 7th week of gestation. 6
depending upon the identi ed anomaly. This is tailored to the Congenital Oral/ Oropharyngeal Anomalies (Table 34-3;
patient and made in conjunction with neonatology, genetics, Figures 34-7 through 34-13)
and other specialty team members. Embryology—The mandible is derived from Meckel’s cartilage,
which is the lower portion of the rst branchial arch. Development
takes place from the 4th to 10th week of gestation. The tongue is
MANAGEMENT actually derived from branchial arches 1 to 4 as well as occipital
stomites (masses of mesoderm along sides of neural tube). The
tongue originally forms in the nasal cavity and as the palatine
pathologic process. shelves join in the midline, the tongue is pushed inferiorly into the
oral cavity. See the preceding nasal/ oral embryology for more
detail. In the setting of Pierre Robin Sequence, it is hypothesized
identi ed or if a syndrome is otherwise suspected.
that relative macroglossia prevents the palatine shelves of the max-
illary prominences from fusing, creating a midline cleft palate. 12
plastic surgeon, or other pediatric specialists will guide nonsurgical and
surgical management. Congenital Cervical Anomalies (Table 34-4; Figures 34-14
through 34-18)
functional anomalies related to airway, feeding, vision, and hearing Embryology—The thyroid gland forms from a diverticulum arising
should be prioritized. between the anterior 2/ 3 and posterior 1/ 3 muscle tongue. This
PART 5
206 CHAPTER 34
TABLE 34-1 Cong e nital Nasal Anomalie s 2
Ano maly Ep id e mio lo g y Pre se nt at io n Evaluat io n Tre at me nt

Pyrifo rm Ap e rt ure
St e no sis re p orts and airway, d e cong e s-
Narrowing of ante rior se rie s maxillary incisor (SCMI) tants) vs. surg ical
b ony op e ning s to op e ning of p yriform
nasal p assag e s from r/o holoprose nce phaly ap e rture
ove rg rowth of nasal nasal op e ning s or othe r midline de fe cts
p roce sse s of maxilla
(Fig ure 34-2) ce ntral maxillary
incisor (SCMI) consult
Cho anal At re sia
Failure of b ucconasal ab le to b e manag e d
me mb rane to d e g e ne r- have me mb ranous conse rvative ly
ate , with failure to associate d
d e ve lop choanal cong e nital re q uire s intub ation
op e ning s in p oste rior anomalie s unilate ral atre sia e valuate for CHARGE and e arly surg ical
nasal cavity or othe r associate d op e ning of choanae
(Fig ure 34-3) unilate ral synd rome vs. trache ostomy
Naso lacrimal
Duct Cyst >M d istre ss conse rvative , usually
Cyst formation from distal surg ical e sp e cially
nasolacrimal d uct whe n b ilate ral
obstruction – commonly
from an impe rforate
nasolacrimal duct
opening
Nasal De rmo id
Cyst formation from
failure of involution of ne wb orns b e from g lab e lla e xte nsion and d iffe re n-
d ural d ive rticulum, with to colume lla tiate g lioma/
trap p ing of e p ithe lial +/− hair e nce p haloce le
re mnants (includ ing
g land s and hair) not transilluminate
(Fig ure 34-4) consultation
A B C
FIGURE 34-2 Pyriform Ap e rture Ste nosis se e n on axial (A), and coronal (B
d istre ss and fe e d ing d if culty. A solitary ce ntral maxillary incisor se e n on axial CT (C). (Use d with p e rmissio n from Prashant Malhotra, MD.)
PART 5
A B
FIGURE 34-3 Le ft unilate ral choanal atre sia se e n on e nd os-

cop y (A, B). Note infe rior turb inate late rally (A). The rig ht
sid e is unaffe cte d (C) with a p ate nt choanal op e ning se e n
C
b e hind the turb inate . (Use d with p e rmission from Prashant
Malhotra, MD.)
FIGURE 34-4 Pre d ominantly nasal d e rmoid in an infant causing

unilate ral nasal ob struction. No intracranial e xte nsion was note d .
Note the small d imp le on nasal tip . (Use d with p e rmission from
Prashant Malhotra, MD.)
PART 5
208 CHAPTER 34
TABLE 34-2 Cong e nital Ear Anomalie s

Micro t ia
Ab normal d e ve lop me nt b irths auricle atre sia
of auricle of e ar, from > d e sire d (for cosme sis)
alte re d d e ve lop me nt vs. p rosthe sis
>F of time
↑ in Jap ane se ,
arche s) (Fig ure s 34-1, Hisp anic, aud iolog ic e valuation
34-5, and 34-24) Native
Ame rican consult
Aural At re sia -
Failure of e xte rnal aud i- b irths e xte rnal me atus log ic e valuation of bone anchored
tory canal to d e ve lop , > conduction device
from failure of canali- he aring loss (for conductive hearing
zation of e p id e rmal >F (anatomic e val and r/o loss)
p lug in rst b ranchial chole ste atoma)
g roove (Fig ure s 34-1 atre sia
and 34-24) -
ation of surg ical re p air
of atre sia or imp lante d
b one anchore d
he aring aid
Pro mine nt Ears
Ab normal d e ve lop me nt caucasians antihe lical fold e xamination
-
(Fig ure 34-6) me nt of conchal
cartilag e
FIGURE 34-5 Microtia (und e rd e ve lop e d p inna) in a child . (Use d with

PART 5
A B
FIGURE 34-6 Promine nt, p rotrud ing e ars (A) in a child p re se nting for e le ctive b ilate ral otop lasty (B). Protrusio n typ ically re sults from
ab se nce of antihe lical fold and e xce ssive conchal b owl cartilag e . O top lasty involve s intraop e rative cre ation of an antihe lical fold , to
b e se cure d with suture s. (Use d with p e rmission from Prashant Malhotra, MD.)
TABLE 34-3 Cong e nital O ral/O rop haryng e al Anomalie s

Micro g nat hia -
Small mand ib le isolation or as tomatic, b ut can p ositioning or nasal
(Fig ure s 34-7 p art of synd rome p re se nt with sig ni - airways
and 34-8) cant airway ob struc- craniofacial surg e ry
Se q ue nce (PRS) tion if associate d consults tong ue -lip ad he sion,
occurs in ab out with Pie rre -Rob in trache ostomy or
se q ue nce mand ib ular d istraction
oste og e ne sis
Ankylo g lo ssia
Short, b rous the rap y e valuation
ling ual fre nulum includ e s d ivision of
or a hig hly male ratio d if cultie s the fre nulum (timing
attache d - d e b ate d )
g e niog lossus tact the hard p alate
muscle
(Fig ure 34-9)
p ast the te e th
Macro g lo ssia
Enlarg e me nt of - strid or, airway (e valuate oor of
the tong ue mations, ob struction mouth for mass) may b e ind icate d in
- se ve re case s.
thyroid ism of the tong ue
-
mann synd rome ,
Ling ual t hyro id

Failure of the = childhood, adoles- are as of e ctop ic thyroid authors arg ue for
thyroid to cence or menopause e xcision d ue to
d e sce nd from is the only functioning malig nant p ote ntial.
the forame n g land )
ce cum b ase of tong ue choose to follow
- Tc-99m can also be used clinically
nia or d ysp ne a
d ysfunction me d ically,
will b e hyp othyroid as ne e d e d
(continue d )
PART 5
210 CHAPTER 34
TABLE 34-3 Cong e nital O ral/O rop haryng e al Anomalie s (Continue d )

Nat al Te e t h
Infant is b orn normal ap p e aring if sup e rnume rary or if
with a tooth tooth mucosa or tong ue conce rn for asp iration
or te e th 9 - ulce ration from the from hig hly
ture of the tooth tooth mob ile tooth
may not b e normal
e rup tion or
sup e rnume rary
Co ng e nit al Ep ulis = - -
Granular cell tumor e re d le sion, more lar, p romine nt marg ins
commonly along the without associate d
b e nig n me se n- e xist in multip le maxillary gingival b ony tissue
chymal tumor site s
(Fig ure 34-10) - ENT or oral surg e on
De rmo id -
Cystic le sion of the moid s occur in g rowing mass +/− incision and d rain-
oor of mouth the he ad and ag e in the se tting of
comprised of oor of the mouth, an acute infe ction
- rare ly in the tong ue -
ag e s with a d e rmoid s in the lig nant transformation
sq uamous e p i- or infe rior to the
the lial lining are in the oor of mylohyoid muscle
(Fig ure 34-11) mouth
A B
FIGURE 34-7
p ro le vie w (A) and on CT scan with 3D re construction (B). (Use d with p e rmission from Jonathan Grischkan, MD)
PART 5
FIGURE 34-8 Microg nathia in an infant, which ultimate ly re q uire d

mand ib ular d istraction for p e rsiste nt re sp iratory d istre ss and p oor
g rowth. (Use d with p e rmission from Prashant Malhotra, MD.)
A B
A B
B A B
FIGURE 34-9 - FIGURE 34-10 Cong e nital e p ulis (b e nig n tumor on the g ing ival or
A). alve olar mucosa) arising from maxillary alve olar rid g e in a ne wb orn, on
Patie nt was unab le to p ass tong ue tip b e yond mand ib ular te e th. Note late ral (A) and p rimarily frontal (B) vie ws. (Use d with p e rmission from
the e xte nt of the re le ase afte r fre nulop lasty (B). Patie nt is also ab le Prashant Malhotra, MD.)
to now p rotrud e tong ue tip we ll p ast mand ib ular te e th. (Use d with
PART 5
212 CHAPTER 34
FIGURE 34-12 Naso-orop haryng e al soft tissue ste nosis in a young

FIGURE 34-11 O ral d e rmoid cyst in a 2-ye ar-old child b e ing surg ically
child with Mob ius synd rome . End o scop ic vie w with e xib le scop e
e xcise d from the oor of the mouth. (Use d with p e rmission from
shows narrowe d calib e r, normal larynx in the d istance . (Use d with
A B
FIGURE 34-13 Pharyng e al ap lasia with (A) and witho ut (B) a ste nt in p lace . The re was no orop haryng e al op e ning until cre ate d surg ically. O rop ha-
ryng e al ste nt in p lace throug h surg ically cre ate d op e ning . Soft tissue was se rially re se cte d /ab late d with ultimate re storation of p ate ncy. (Use d with
PART 5
TABLE 34-4 Cong e nital Ce rvical Anomalie s

Thyro g lo ssal Duct Cyst (TGDC)
Failure of ob lite ration of caud ally life time e valuate thy- re se ction via
d e sce nd e d me d ian thyroid p ainle ss roid g land (r/p
anlag e , or thyrog lossal d uct id e nti e d TGDC as only
(Fig ure s 34-14 and 34-15 < swallow or tong ue e ctop ic thyroid hyoid re move d
se e Chap te r 32, Thyrog lossal ag e p rotrusion tissue ) along with e ntire
Duct Cyst and O the r He ad tract)
mass or draining sinus
or stulae ) of cong e ni- e ntire cyst, sinus,

canal stula e nd oscop y to or stula
masse s r/o p haryng e al
+ me sod e rm) around e ar stula
Third Cle ft Anomaly (rare )

Fourth Cle ft Anomaly (rare )
(Fig ure s 34-16 to 34-18
Chap te r 32, Thyrog lossal Duct
Cyst and O the r He ad and
De rmo id
Entrap p e d e p ithe lial (e ctod e rmal head and sub cutan-e ous mass
and e nd od e rmal) e le me nts - TGDC if ad jace nt
moids occur to hyoid )
size
A B
FIGURE 34-14 Thyroglossal duct cyst in a 2-year-old girl, as seen on frontal (A) and lateral (B) views. (Used with permission from Prashant Malhotra, MD.)
PART 5
214 CHAPTER 34
FIGURE 34-15 Acutely infe cted thyroglossal d uct cyst in a teenage r. FIGURE 34-17
rst b ranchial anomaly with d up licate d cartilag e and sinus. This was
(excision of cyst with tract and mid d le third of hyoid b one). (Used with e xcise d along with small cyst and e xte rnal canal re constructe d .
p ermission from Prashant Malhotra, MD.) (Use d with p e rmission from Prashant Malhotra, MD.)
descends caudally, anterior to the hyoid, and fuses with fourth and Asians, and a lower prevalence in African Americans. It is the sec-
fth branchial pouches to form the thyroid. 13 The branchial arches ond most common birth deformity (second to club foot) and 2/ 3
are responsible for much of the musculoskeletal and neural devel- of these children have other associated abnormalities. 14 Cleft lip is
associated with cleft palate in 68 to 86 percent of cases and a unilat-
incomplete obliteration of the clefts and pouches, and are classi ed eral cleft is more common than bilateral. 4 Management is best
by the cleft or pouch of origin. The origin affects the location of orchestrated in the context of a multidisciplinary Cleft-Craniofacial
associated stulae and relationship to nerves, arteries, and muscles. team (Figures 34-19 and 34-20).
Vascular anomalies—These include vascular tumors such as
syndrome is a classic example of a genetic cause for congenital hemangiomas as well as malformations such as capillary and
branchial arch abnormalities.
and lymphatic malformations. Other than focal hemangiomas,
have no external opening, sinuses open to the skin, and stulae they are best managed by a multidisciplinary vascular anomalies
have a skin opening and an opening into the pharynx. team, consisting of dermatology, plastic surgery, otolaryngology,
radiology, and other specialists. A brief discussion follows for
Other Anomalies and Syndromes selected lesions.
Cleft lip/ palate—Orofacial clefting occurs in approximately
FIGURE 34-18 Stairste p p ing horizontal incisions d e monstrate charac-

te ristic tract of 2nd b ranchial anomaly as it trave rse s b e twe e n the
FIGURE 34-16 Infe cte d rig ht p re auricular sinus with ab sce ss in a carotid b ifurcation, sup e r cial to CN IX and toward the to nsillar fossa.
young g irl. (Use d with p e rmission from Prashant Malhotra, MD.) (Use d with p e rmission from Prashant Malhotra, MD.)
PART 5
A B
FIGURE 34-19 Cle ft p alate as se e n intraop e rative ly p rior to re p air (A) and imme d iate ly afte r re p air (B). (Use d with p e rmission from
A B
FIGURE 34-20 A B). (Use d with p e rmission from

PART 5
216 CHAPTER 34
~ Hemangiomas: These common benign neoplasms are composed of

proliferating endothelial type cells, and affect the head and neck in
60 percent of cases. They typically develop after birth and have a
characteristic proliferate phase, plateau phase, and subsequent
involutional phase. They have varied presentations and treatment is
individually tailored. If they have no complications (ulceration or
bleeding) or a threat to function (vision, airway, cosmesis, etc.),
they may be observed. First line medical therapy previously con-
sisted of systemic corticosteroids, but the use of propranolol has
supplanted this. Surgery has a role for aggressive proliferative or
function threatening lesions, or after incomplete involution. 15
~
made up of ectatic veins. They differ from hemangiomas, as they

are present at birth, grow proportionally with the child, and are
not proliferative lesions. MRI can help con rm diagnosis and
determine extent of lesion. They are low- ow lesions that are
isointense to muscle on T1-weighted images and enhance brightly
on T2. Conservative management, injection sclerotherapy, and
laser therapy are usually rst line options, with surgery reserved
for persistent symptomatic disease (Figure 34-21). 16
~ Lymphatic Malformations (LMs, previously known as cystic
hygroma or lymphangioma)—These are rare vascular anomalies,
common in the head and neck, from aberrant formation of
peripheral lymphatic vessels or fusion with venous structures,
occurring in 1 to 4/ 10,000 births. They are categorized as macro- FIGURE 3 4 -2 1
cystic, microcystic, or combined lesions depending on the size of b ila te ral, symm e tric, flo o r o f m o uth fullne ss. Imag ing a nd p atho l-
the uid lled compartments. They present as asymptomatic o g y afte r e xcisio n d e mo nstrate d co mb ine d ve no us and lymp hatic
(ve no lymp hatic) malfo rm atio n. (Use d with p e rmissio n fro m Prashant
masses or with functional dif culties such as dysphagia or airway Malho tra, MD.)
dif culties. MRI is imaging modality of choice, typically with low
signal intensity on T1-weighted images, high signal intensity with
well demarcated margins on T2-weighted images. LMs may be lesions. These same options exist for microcystic lesions, which
identi ed on antenatal ultrasound and appropriate airway planning are more dif cult to treat (Figures 34-22 and 34-23). 17
should be anticipated. LMs are dif cult to treat. Medical therapy Syndromic associated anomalies—Congenital anomalies of
with antibiotics and anti-in ammatory may be used if they acutely the head and neck can be associated with numerous genetic abnor-
worsen. De nitive treatment varies based on de Serres staging, malities and syndromes (Figures 34-1 and 34-24). Table 34-5
affected site and type of lesion, and is individualized. Observation, lists some of those, which are more commonly encountered. Head
surgery, and injection sclerotherapy are options for macrocystic and neck, other ndings, and the causes are listed.
A B
FIGURE 34-22
p harynx, sup rag lottic larynx, and into me d iastinum (A). LM was comb ine d microcystic and macrocystic. Note the te nse oor of mouth and tong ue
involve me nt (B), with mouth p ushe d up ward s to p alate . (Use d with p e rmission from Prashant Malhotra, MD.)
PART 5
A B
FIGURE 34-23 A). Tong ue is p ushe d

to the rig ht to e xp ose le ft late ral to ng ue and oor of mouth. Note b luish d iscoloration. Intraop e rative vie w (B) of
we ll circumscrib e d macrocystic LM. (Use d with p e rmission from Prashant Malhotra, MD.)
AA
BB CC
FIGURE 34-24
(A), late ral/ob liq ue (B) and frontal (C
(Use d with p e rmission from Prashant Malhotra, MD.)
PART 5
218 CHAPTER 34
TABLE 34-5
Synd ro me He ad & Ne ck Find ing s O t he r Find ing s Cause

Tre ache r Co llins 18 Down slanting palpe bral ssures, lower None
(Fig ure 34-1) eyelid colobomas, maxillary hypoplasia,
microtia, atresia of e xte rnal auditory canal
O culo -Auriculo - He mifacial microsomia, e p ib ulb ar d e r- Can b e non-g e ne tic
Ve rt e b ral moid s, up p e r e ye lid colob omas, macro- re nal d e fe cts (d iab e te s, te ratog e ns)
Sp e ctrum (Gold e nhar stomia, facial cle fts, e ar malformations or g e ne tic (chromo-
Fig ure 34-24)18

St ickle r’s 2 O p hthalmic ab normalitie s, atte ne d mid -
face , d e p re sse d nasal b rid g e , SNHL,
mand ib ular hyp op lasia, cle ft p alate typ e II collag e n
Cro uzo n’s 2,19 Craniosynostosis (usually coronal suture ), Ce re b e llar he rniation, -
mid face hyp op lasia, atre sia of the naso- hyd roce p halus, jug u- tion on chromosome
p harynx, p rop tosis, hyp e rte lorism lar forame n ste nosis
Ve lo card io facial20 Thyroid d ysfunction/malformation, ap lasia/ He art and re nal defects,
hyp op lasia p arathyroid s, ab normal thy- impaire d immunity,
DiGe org e mus, cle ft p alate , ve lop alatal insuf - growth retardation, 22)
Synd rome ) cie ncy, laryng otrache al ab normalitie s, -
d ysp hag ia/e sop hag e al d ysmotility ties, me ntal illne ss
Branchio -O t o -Re nal21 Re nal ab normalitie s
preauricular pits, external/middle/inner ear
abnormalities, facial asymmetry, cleft palate
Fe t al Alco ho l Short p alp e b ral ssure s, smooth p hiltrum, Growth re tard ation, Mate rnal alcohol
Synd ro me 22 thin up p e r ve rmillion b ord e r, maxillary CNS d ysfunction consump tion
hyp op lasia, microce p haly
PATIENT RESO URCES Otolaryngol Clin N

www.cleftline.org. Am. 2007;40:61-80.
www.birthmark.org. 7. Mueller et al. Congenital malformations of the oral cavity.
Otolaryngol Clin N Am. 2007;40:141-160.
PRO VIDER RESO URCES 8. Toso A, Colombani F, Averono G, Aluf P, Pia F. Lingual thyroid
causing dysphagia and dyspnoea. Case reports and review of the
www.acpa-cpf.org. literature. Acta Otorhinolaryng Italica. 2009;29:213-217.
www.cleftline.org.
dilemmas. Clinical Pediatrics. 2008;47(2):99-105.
REFERENCES of the newborn: a case report and review of the literature. Turkish
1. Isaacson G. An Approach to Congenital Malformations of the J of Pathology 2011;27(2):161-163.
- the neck: radiologic-pathologic correlation. Radiographics
tions. Otolaryngol Clinic North Amer. 2007;40:97-112. 1999;19:121-146.
children. Ped Clinic North Amer. 2003;50:459-467.

4. Arosarena OA. Cleft lip and palate. Otolaryngol Clin N Am. 2007; Inc. 2005 US MD Consult
40:27-60. 13. Acierno SP et al. Congenital cervical cysts, sinuses, and stulae.
dermoid of the face: a 25-year experience. Journal of Plast, Reconst -
Aesth Surg. 2007;60:1025-1029. trum of orofacial clefting. Plast Reconstr Surg. 2005;115:101e-114e.
PART 5
15. Hartzell et al. Otolaryngol Clin North Am. 2012;45(3):545-56, vii. 20. Marom T, RothY, Goldfarb A, et al. Head and neck manifestations
- of 22q11.2 deletion syndromes. Eur Arch Otorhinolaryngol.
tions. Curr Opin Otololaryngol Head Neck Surg. 2004;12:476-487. 2012;269:381-387.
17. Adams et al. Head and neck malformation treatment. Otolaryngol
Head Neck Surg. 2012;147(4):627-639. branchiootorenal syndrome: a case report and review of the
literature. J of Pediatric Surgery. 2009;44:623-625.
the rst and second branchial arches: a review. Am J of Med Genet -
Part A. 2009;149A:1853-1859. ders: an overview. Neuropsychol Rev. 2011;21:73-80.
23. Isaacson G. An Approach to Congenital Malformations of the
midface hypoplasia. Otolaryngol Clin N Am. 2000;33(6):1257-1284. Otolaryngol Clin N Am. 2007;40:1-8.
PART 6
O RAL HEALTH
St re ng t h o f
(SO R) De nit io n

PART 6
222 CHAPTER 35
O RAL HEALTH
35 GEO GRAPHIC TO NGUE EPIDEMIO LO GY

Erne st Vald e z, DDS
the population.
Wand a C. Gonsalve s, MD
predilection.
PATIENT STO RY and black persons than among Mexican Americans. 2
A 4-year-old girl is brought to the pediatrician’s of ce because the

mother is concerned about her child’s tongue having a “strange ETIO LO GY AND PATHO PHYSIO LO GY
appearance.” She denies pain or discomfort and is unsure how long
the lesions have been present. The lesions seem to change areas of
distribution on the tongue. The examination reveals large, well- unknown etiology.
delineated, shiny and smooth, erythematous spots on the surface of
the tongue (Figure 35-1). The diagnosis is geographic tongue
(benign migratory glossitis). The physician explains that it is benign and hormonal disturbances.
and that no treatment is needed unless symptoms develop. 4
INTRO DUCTIO N
DIAGNO SIS
Geographic tongue is a recurrent, benign, usually asymptomatic, in am-
matory disorder of the mucosa of the dorsum and lateral borders of the CLINICAL FEATURES
tongue. Geographic tongue is characterized by circinate, irregularly shaped
erythematous patches bordered by a white keratotic band. The central lesion. The lesions are suggestive of a geographic map (hence geo-
erythematous patch represents loss of liform papillae of tongue epithe- graphic tongue) with pink continents surrounded by whiter oceans
lium. Geographic tongue can, although rarely, present as symptomatic. (Figure 35-1).
and smooth, erythematous patches surrounded by a white halo

SYNO NYMS (Figure 35-2).
Benign migratory glossitis or geographic stomatitis.
FIGURE 35-2 Ge og rap hic tong ue (b e nig n mig ratory g lossitis). Note
the p ink contine nts among the white oce ans. (Re p rinte d with p e rmis-
FIGURE 35-1 Ge og rap hic tong ue (b e nig n mig ratory g lossitis) in sio n from Gonsalve s WC, Chi AC, Ne ville BW. Common oral le sions:
a 4-ye ar-old g irl. Note the p ink contine nt among the white oce an. p art II. Am Fam Phys 2007;75(4):501-508. Cop yrig ht © 2007 Ame rican
(Use d with p e rmission from Richard P. Usatine , MD.) Acad e my of Family Physicians. All rig hts re se rve d .)
PART 6
GEO GRAPHIC TO NGUE 223
O RAL HEALTH
liform papillae and are usually surrounded by slightly elevated,

curving, white-to-yellow elevated borders (Figures 35-1 and 35-2).
appear to be migrating (hence migratory glossitis).
of pain or burning, especially when eating spicy foods.
arthritis if the patient has psoriatic skin lesions or has conjunctivitis,

urethritis, arthritis, and skin involvement suggestive of reactive
arthritis.
tongue mucosa.
sites may be involved such as the buccal mucosa, the labial mucosa,
FIGURE 35-3 Fissure d tong ue p re se nt since b irth. Althoug h this has

also b e e n calle d a scrotal tong ue , the p re fe rre d te rminolog y is now
DIFFERENTIAL DIAGNO SIS ssure d tong ue , for ob vious re asons. (Use d with p e rmission from
white lines commonly found on the buccal mucosa, or erosive Geographic tongue can rarely present as persistent and painful
forms, characterized by atrophic erythematous areas with central (Figure 35-5
was applied twice daily for 2 weeks with signi cant improvement of
symptoms. SOR
No treatment has been proven to be uniformly effective. 9
FO LLO W-UP
arthritis, and conjunctivitis,” may have rare intraoral lesions described
as painless ulcerative papules on the buccal mucosa and palate.
ssures that are asymptomatic. Although it has been called a scrotal

tongue in the past, the term ssured tongue is preferred by patients
(Figure 35-3).
MANAGEMENT
(Figure 35-4).
adults but not proven effective with good clinical trials:

~ Topical steroids such as triamcinolone dental paste (Oralone or
Kenalog in Orabase). SOR

~ Supplements such as zinc, vitamin B , niacin, and ribo avin.
SOR
~
SO R
~ Topical anesthetic rinses. SO R
FIGURE 35-4 A mild asymp tomatic case of g e og rap hic tong ue . Note
the atrop hic liform p ap illae and the sub tle white halo. (Use d with
for young children. p e rmission from Richard P. Usatine , MD.)
PART 6
224 CHAPTER 35
O RAL HEALTH

Geographic Tongue www.emedicine.medscape.
com/ article/ 1078465.
Geographic Tongue www.mayoclinic.com/
health/ geographic-tongue/ DS00819.
REFERENCES
-
sota schoolchildren. Oral Surg Oral Med Oral Pathol.
Oral Dis.
FIGURE 35-5 Ge og rap hic tong ue with more se ve re symp tomatolog y,
includ ing p ain and a b urning se nsatio n whe n e ating sp icy food s. The
contrast b e twe e n the normal tong ue tissue and the p ink atrop hic
p ap illae is striking . (Use d with p e rmission from Elle n Eise nb e rg , DMD.)
migratory glossitis or geographic tongue: an enigmatic oral lesion.
Am J Med.
J Oral Pathol Med.

-
PATIENT EDUCATIO N
provided. Med Oral Patol Oral Cir Bucal.
-
nature. Tell patients with geographic tongue to avoid irritating spicy
sporin administration for persistent benign migratory glossitis.
J Dermatol.
PATIENT RESO URCES

primary care. Am Fam Physician.
Geographic Tongue www.
cpnonline.org/ CRS/ CRS/ pa_gtongue_hhg.htm.
treated with topical tacrolimus. J Dermatol Case Rep.
Geographic Tongue www.nlm.nih.gov/
Super cial mucosal lesions. Am Fam Physician.
PART 6
EARLY CHILDHO O D CARIES 225
O RAL HEALTH
36 EARLY CHILDHO O D
CARIES
Ad riana Se g ura DDS, MS
Wand a C. Gonsalve s, MD
PATIENT STO RY
A mother brings her 18-month-old son to the physician’s clinic for his
well-child examination. He is almost weaned from his bottle, but still
drinks from a bottle to go to sleep. During the day, he uses a sippy
cup to drink everything—from milk to soda. His mother has started
FIGURE 36-2 Ce ntral maxillary incisors with se ve re tooth d e cay, and
giving him apple juice in the bottle instead of milk because he tends b ilate ral maxillary late ral incisors with d e mine ralize d are a ne ar g ing ival
to get constipated. On performing an oral examination, the physician line (ye llow-b rownish d iscolorations). The up p e r incisors are ofte n the
notices that several of his teeth have “white spots” (Figure 36-1). rst te e th involve d in nursing b ottle carie s. (Use d with p e rmission from
Ge rald Ferretti, DMD.)
The physician discusses dental hygiene and treats him with topical
uoride gel.
EPIDEMIO LO GY
INTRO DUCTIO N
common chronic childhood disease. It is 5 times more common
Dental caries continues to be the most prevalent chronic disease than asthma and 7 times more common than hay fever among
problem facing infants and children. The American Academy of children 5 to 7 years of age. 1
Pediatric Dentistry, American Academy of Pediatrics, and American
Dental Association recommend that a child’s rst visit to a dentist
should occur 6 months after the eruption of the rst tooth or at
1 year of age. Providing a dental home by age 1 year allows the health
provider to complete a risk assessment, provide an introduction to
11 years of age had untreated decay in their primary teeth,
dentistry, and provide anticipatory guidance. It is important to be
compared to 18 percent of non-Hispanic white children.
able to recognize disease and to provide prevention strategies early
on to the parents/ caregivers. -
tated or cavitated lesions), missing (as a consequence of caries), or
lled tooth surfaces in any primary tooth in a child 71 months of
age or younger (Figures 36-2 to 36-4).”4
SYNO NYMS
Nursing bottle caries or baby bottles caries.
FIGURE 36-1 Demineralization at g ing iva marg ins characterize d b y FIGURE 36-3 Se ve re ECC in a 4-ye ar-old with se ve re d e cay of all four
whitish discolorations. (Used with p ermission from Gerald Ferretti, DMD.) maxillary incisors. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 6
226 CHAPTER 36
O RAL HEALTH
DIAGNO SIS
CLINICAL FEATURES
and on pits and ssures. These areas are painless and appear clini-
cally as opaque or brown spots (Figure 36-1). White-spot lesions
are the rst indication the demineralization has started.
to and through the dentin (the component of the tooth located

below the enamel) and to the pulp (composed of nerves and blood
FIGURE 36-4 Se ve re ECC in a 3-ye ar-old with multip le are as of cavitary
le sions involving the mand ib ular incisors and missing maxillary incisors
se cond ary to d e cay. (Use d with p e rmission from Richard P. Usatine , MD.) necrosis, and, perhaps, an abscess.
Demineralized (white or brown spots) and carious lesions generally
development, decreased ability to learn, higher risk of new caries,
occur at the margins of the gingiva upper incisors, and later rst and
and added cost. 4
are rarely affected.
Demineralized lesions may not be seen on radiographs, but advanced
caused by the demineralization of tooth enamel (Figure 36-1) in carious lesions between and on the occlusal surfaces are detected
the presence of a sugar substrate and acid-forming cariogenic bacteria, by x-ray.
Streptococcus mutans (also known as mutans streptococci), which is
considered to be the primary strain causing decay that are found
in the soft gelatinous bio lm. MANAGEMENT
principally susceptible to caries caused by the transmission of

S. mutans from the mouth of the caregiver or sibling(s) to the mouth and perform a caries risk assessment during well-child examination
of the infant or toddler. This type of tooth decay is called baby visits. 5,6 SOR
ssure sealants. 5,6 SO R
RISK FACTO RS must determine the uoride concentration in the child’s primary
source of drinking water. If uoridated water is not available in the
Risk factors for caries development include: community, natural sources of uoride are well water exposed to
uorite minerals and certain fruits and vegetables grown in soil
irrigated with uoridated water. 7 SO R
formula, or soda).
who live in communities whose water is optimally uoridated
Table 36-1
for uoride supplementation. 7 SO R
possible nutrition to infants and, by itself, has been shown to be 6
noncariogenic. SO R
high-risk children have been shown to prevent caries in demineral-

usually lacks uoride. ized enamel. 8 SO R
PART 6
EARLY CHILDHO O D CARIES 227
O RAL HEALTH
TABLE 36-1 Sup p le me ntal Fluorid e Dosag e Sche d ule
Co nce nt rat io n o f Fluo rid e in Wat e r

Ag e < 0.3 p p m F 0.3 t o 0.6 p p m F > 0.6 p p m F
Birth to 6 months 0 0 0
6 months to 3 ye ars 0.25 mg 0 0
3 to 6 ye ars 0.50 mg 0.25 mg 0
6 to at le ast 16 ye ars 1.00 mg 0.50 mg 0
Source : Guid e line on Fluorid e The rap y. Pe d iatric De ntistry, Volume 35 (6):2013-2014. Ame rican Acad e my of Pe d iatric De ntistry.
http ://www.aap d .org /me d ia/Policie s_Guid e line s/G_ uorid e the rap y.p d f
The American Academy of Pediatric Dentistry (AAPD) promotes

FO LLO W-UP breastfeeding for infants but recommends cessation of ad libitum
breastfeeding as the rst primary tooth begins to erupt and other
dietary carbohydrates are introduced. 9 SO R
is taken to a dentist for evaluation and treatment so the teeth can be
saved from decay or repaired.
PATIENT RESO URCES
Brush Up on Healthy
Teeth—www.cdc.gov/ OralHealth/ pdfs/
PATIENT EDUCATIO N 6 BrushUpPoster.pdf.
Am Fam
Physician. www.aafp.org/ afp/ 20041201/
2121ph.html.
the caregiver should use a washcloth or cotton gauze to clean a
baby’s mouth and to transition the child to tooth brushing. SO R www.mychildrensteeth.org/ education/ .
www.mouthhealthy.org/ en/ babies-and-kids/ .
are at moderate risk or high risk for caries (Figure 36-5). 6 SO R PRO VIDER RESO URCES
www.aapd.org/ .
6 SO R
- www.smilesforlifeoralhealth.org/ .
ble of doing an adequate job (usually around age 7 years). Preventing Cavities,
Gum Disease, Tooth Loss, and Oral Cancers at a Glance 2011—
and the possible side effects of using too much uoride (see www.cdc.gov/ chronicdisease/ resources/
Table 36-1). publications/ AAG/ doh.htm.
soon as possible and to avoid giving the child milk, juice, or soda in
either a bottle or sippy cup when putting the child to bed. REFERENCES
Oral Health in
America:A Report of the Surgeon General-Executive Summary. Rock-
with other carbohydrates can place the child at risk for caries.
‘S me a r’—unde r 2 yrs. ‘Pe a -s ize d’—2-5 yrs.
Oral Health: Prevent-

ing Cavities, Gum Disease, andTooth Loss, and Oral Cancers. http://
Oral Health Resources:

New Report Finds Improvements in Oral Health of Americans. http://
FIGURE 36-5 Comparison of a “smear” (left) with a “pea-sized” (right) www.cdc.gov/ oralhealth/ publications/ library/ pressreleases/
amount of toothpaste. (Used with permission from Richard P. Usatine, MD.)
PART 6
228 CHAPTER 36
O RAL HEALTH
Affairs. Policy on Early Child Caries (ECC: Classi cations, Consequences, Guideline on
and Prevention Strategies) (Revised 2011). http://www.aapd.org/ FluorideTherapy
media/ policies_guidelines/ p_eccclassi cations.pdf, accessed
-
- ric dental medicine. Pediatr Dent
Diagnosis and Management of
Dental CariesThroughout Life. http://consensus.nih.gov/
Affairs. Policy on Dietary Recommendation for Infants, Children and
- Adolescents (Revised 2008). http://www.aapd.org/ media/ policies_
Guideline on Infant
Oral Health Care (Revised 2011). http://www.aapd.org/ media/
policies_guidelines/ g_infantoralhealthcare.pdf, accessed April
Pediatrics
PART 6
DENTAL CO MPLICATIO NS: HARD TISSUE (TEETH) 229
O RAL HEALTH
37 DENTAL CO MPLICATIO NS:

HARD TISSUE (TEETH)
Homa Amini, DDS, MPH, MS
Ashok Kumar, DDS, MS
Jame s R. Boynton, DDS, MS
PATIENT STO RY
A 9-year-old boy presents to his pediatrician after suffering trauma to

his face 45 minutes ago while jumping on a trampoline (Figure 37-1).
The mother presents with a tooth folded in a wet napkin. There are
no signs or symptoms of trauma to other craniofacial structures nor FIGURE 37-2 Avulse d p e rmane nt te e th should b e re imp lante d as
signs of neurological trauma. Upon examination, a fully rooted per- soon as p ossib le . Hand le the tooth b y the crown and avoid touching
the root. (Use d with p e rmissio n from the Division of Pe d iatric De ntistry
manent tooth is noted to have been lost from its socket and the adja- and Community O ral He alth, The O hio State Unive rsity.)
cent tooth is fractured. He is diagnosed with avulsion of the maxillary
right central incisor. After a call to the child’s dentist, the pediatrician
reimplanted the tooth as directed (Figure 37-2). The boy was then
sent directly to the dentist for evaluation and stabilization. ETIO LO GY AND PATHO PHYSIO LO GY
INTRO DUCTIO N home or at school.
Dental trauma may involve a tooth fracture or the traumatic displace- of the tooth, the pulpal tissue within the tooth, the periodontal
ment of a whole tooth. Intraoral and extraoral soft tissue (involving ligament which holds the tooth in the arch, the alveolar bone,
the gingiva, oral mucosa, and the tongue) may be injured as well. intraoral soft tissue, the maxilla/ mandible, or other craniofacial
structures.
EPIDEMIO LO GY cause necrosis of the pulp tissue within the tooth necessitating root
canal therapy or in ammation of the periodontal ligament, which
can result in resorption of the root.
predilection; the most commonly traumatized teeth are the maxillary
central incisors. 1 structures, referral to a dentist is necessary for a thorough clinical
and radiographic intraoral examination.
RISK FACTO RS
DIAGNO SIS
CLINICAL FEATURES
FIGURE 3 7 -1 Maxillary rig ht ce ntral inciso r is co mp le te ly avulse d
o ut o f its so cke t and maxillary le ft ce ntral inciso r is fracture d ~ Enamel fracture—Fracture con ned to the outer enamel surface
invo lving e name l and d e ntin. (Use d with p e rmissio n fro m the
Divisio n o f Pe d iatric De ntistry and Co mmunity O ral He alth, The without exposing the underlying dentin. Normally asymptomatic,
O hio State Unive rsity.) although fracture site may be rough to the touch.
PART 6
230 CHAPTER 37
O RAL HEALTH
FIGURE 37-3 Tooth fracture involving the oute r e name l and inne r,
more ye llow-co lo re d d e ntin. (Use d with p e rmission from the Divisio n
of Pe d iatric De ntistry and Community O ral He alth, The O hio State
Unive rsity.)
FIGURE 37-5 Traumatic d e ntal injury re sulting in intrusio n of the tooth

~ Enamel/ dentin fracture—Fracture involving the outer enamel into the socke t. (Use d with p e rmission from the Divisio n of Pe d iatric
De ntistry and Community O ral He alth, The O hio State Unive rsity.)
and inner, more yellow-colored dentin. Normally moderate to
severely sensitive to heat or cold (Figure 37-3).
~ Enamel/ dentin/ pulp fracture—Fracture involving the enamel
and dentin, which exposes the underlying vascular pulp tissue.
Symptoms may range from no symptoms to sensitivity to heat
and cold (Figure 37-4).
mobility and/ or sensitivity without displacement from the

socket. Teeth may be sensitive to touch or abnormally loose, but
the tooth remains in its prior position.
~
socket. Teeth may be luxated laterally from the socket, intruded

into the socket, or extruded partially out of the socket. These
injuries are often associated with damage to the supporting
alveolar bone (Figures 37-5 and 37-6).
~
lost and a blood clot will form in the socket (Figure 37-1).
FIGURE 37-6 Traumatic dental injury resulting in partial extrusion of
the tooth out of its socket. (Used with permission from the Division of
~
Pediatric Dentistry and Community Oral Health, The Ohio State University.)
visible upon clinical examination (Figure 37-7).
FIGURE 37-7 Soft tissue trauma of the lowe r lip associate d with lip
FIGURE 37-4 Tooth fracture re sulting in p ulp al e xp osure . (Use d with che wing fo llowing the use of local ane sthe sia in a 4-ye ar-old child .
p e rmission from the Division of Pe d iatric De ntistry and Community (Use d with p e rmission from the Division of Pe d iatric De ntistry and
O ral He alth, The O hio State Unive rsity.) Community O ral He alth, The O hio State Unive rsity.)
PART 6
DENTAL CO MPLICATIO NS: HARD TISSUE (TEETH) 231
O RAL HEALTH
IMAGING
To evaluate the extent of dental trauma, intraoral dental radiographs
are exposed and evaluated by a dentist. A panoramic radiograph may
be useful to evaluate suspected fracture of the mandible. Other head
-
tinely ordered unless speci cally indicated.
involve injuries to the head and neck. 3
and neck structures; a thorough evaluation is critical to determine neu-

rological trauma or trauma to other areas of the craniofacial complex. FIGURE 37-9 The avulsed tee th are stabilized b y a sp lint after re-
implantation. (Used with permission from the Division of Pediatric Dentistry
and Community O ral Health, The Ohio State University.)
MANAGEMENT ~ If not able to reimplant, tooth should be placed in a storage

medium such as milk, Hank’s Balanced Salt Solution, or normal
saline for transport, and the child should be immediately seen by
and radiographic evaluation and treatment. Treatment options for pri-
a dentist for urgent evaluation and reimplantation. 4
mary and permanent teeth are the same and may involve restoration
of the fractured tooth surface and pulp therapy (Figure 37-8). Some
fractured teeth are unable to be restored and must be extracted. Sutures may be indicated. Intraoral radiographs may be indicated to
treatment.
referred to a dentist for clinical and radiographic evaluation and
treatment. Treatment for primary teeth may range from observation
MEDICATIO NS
to extraction of the traumatized tooth. Treatment for permanent
teeth may involve observation, repositioning, or extraction of the
traumatized tooth.
daily for 1 week.
~
dentist for further evaluation.

~ Permanent tooth—Handle the tooth by the crown. Avoid touch- PREVENTIO N AND SCREENING
ing the root. If the root has debris on it, rinse gently for a few
seconds and then reimplant the tooth in its socket as quickly as
possible. Have the patient bite on a washcloth to hold the tooth in
place and refer to a dentist for urgent evaluation and stabilization near stairs).
of the tooth (Figures 37-2 and 37-9).
PRO GNO SIS
fractures have a good prognosis after restoration of the fracture
have a good prognosis, whereas intrusion and avulsion of a tooth

have the most guarded prognosis of dental injuries. Intraoral
soft-tissue injuries typically have a good prognosis.
FO LLO W-UP
The patient’s dentist will follow-up with the patient on a routine

FIGURE 37-8 The le ft maxillary central incisor is restored with dental schedule with clinical and radiographic examinations to evaluate
materials to its original form after a crown fracture. (Used with p ermission
from the Division of Ped iatric Dentistry and Community O ral Health, The the response of the pulp and periodontal ligament following the
O hio State University.) traumatic event.
PART 6
232 CHAPTER 37
O RAL HEALTH
REFERENCES
PATIENT EDUCATIO N
1.
Aust Dent J
Provide anticipatory guidance for prevention of traumatic dental
injuries. Promote use of mouth guards for sport activities and advise
parents to childproof their home. injuries—a review of the literature. Dent Traumatol
19-31.
PATIENT RESO URCES 3.
management, and the dental profession’s involvement. Pediatr Dent.
www.mouthhealthy.org/
en/ az-topics/ d/ dental-emergencies.aspx.
Dental Injuries: A Field Side Guide for Parents, Athletic Trainers,
and Dentists—www.sickkids.ca/ pdfs/ Dentistry/ 12902-
DentalInjuries.pdf.
www.iadt-dentaltrauma.org/ GUIDELINES_Book.pdf.
-
agement of Acute Dental Trauma—www.aapd.org/ media/
Policies_Guidelines/ G_Trauma.pdf.
DENTAL CO MPLICATIO NS—SO FT TISSUE PART 6
(GINGIVA AND MUCO SA) 233
O RAL HEALTH
38 DENTAL COMPLICATIONS—
SO FT TISSUE (GINGIVA
AND MUCO SA)
Sarat Thikkurissy, DDS, MS
Elizab e th Sutton Gosne ll, DMD, MS
Dimitris N. Tatakis, DDS, PhD
ANKYLO GLO SSIA
PATIENT STO RY
FIGURE 38-2 Ankylog lossia in a child re stricting move me nt of the
A 2-year-old male child presents with a chief complaint per mother tong ue . (Use d with p e rmission from Dimitris N. Tatakis DDS, PhD.)
of “not being able to stick out his tongue.” (Figure 38-1). On exami-
nation, the child could not protrude the tip of the tongue over the
mandibular anterior teeth and could not effectively lick his upper lip.
Neither gingival recession nor speech pathology was noted. A diagno-
is a controversial and inconclusive nding. 2
sis of ankyloglossia was made. Frenectomy was suggested and delayed
until child’s age made feasible necessary behavioral management in
the dental chair.
INTRO DUCTIO N
Ankyloglossia refers to a congenital abnormality, where a short

syndromes such as X-linked cleft palate. 3
and/ or thick lingual frenum may restrict tongue movement
(Figure 38-2). 1 Severity may vary signi cantly.
without any other congenital disease.
SYNO NYM 4
while it has
been strongly associated with maternal cocaine use.
Tongue-Tie.
EPIDEMIO LO GY RISK FACTO RS
on age population surveyed. 1
DIAGNO SIS
CLINICAL FEATURES
of tongue mobility (range of motion) and/ or functionality.

-
bances in children, in which severe ankyloglossia prevents/ impedes
completion of a suf cient oral seal during nursing.
lactation consultants.
-
FIGURE 38-1 Ankylog lossia characte rize d b y a short and thick fre num. cent of infants receiving surgical correction had improved feeding,
6
(Use d with p e rmission from Dimitris N. Tatakis DDS, PhD.)
PART 6
234 CHAPTER 38
O RAL HEALTH
-
sic behaviors and causative factors.
the possible contribution of ankyloglossia and the need for

management.
MANAGEMENT
severity of the ankyloglossia and its impact (i.e., effects on feeding,

speech, peer acceptance, social life and self image). SO R
impact of the problem on the child’s pathology is important prior

to any surgical correction.
ankyloglossia due to excessive scar tissue formation.
~ Frenotomy—Surgical release of frenal constriction.

~
~ Frenuloplasty—Surgical rearrangement of frenal attachments and

FIGURE 38-3 Ging ivitis in an ad ole sce nt characte rize d b y e rythe ma-
extension. tous and e d e matous g ing iva. (Use d with p e rmission from Dimitris N.
Tatakis DDS, PhD.)
PATIENT EDUCATIO N
INTRO DUCTIO N
Parents should be advised to seek consultations from a pediatric den-
tist (or dentist familiar with ankyloglossia in young children), lacta-
tion consultant (if nursing is a speci c issue), and speech pathologist -
(if speech is affected) to have a comprehensive evaluation of the vitis that may have additional etiologic factors (such as pregnancy gin-
child’s limitations, to ensure that ankyloglossia is a contributing givitis). Gingivitis does not include the broad spectrum of periodontal
factor to child’s pathology, prior to referring the child for surgical diseases in children (those associated with loss of soft and hard (alveo-
correction. lar bone) tissue support around the teeth).
PATIENT RESO URCES

SYNO NYM
. Gum disease or gingival disease.
.
. EPIDEMIO LO GY
gingivitis in children and adolescents, beginning in the primary

GINGIVITIS dentition and peaking during puberty.
PATIENT STO RY often affected by gingivitis. 8
A 13-year-old female presents to your of ce because of persistent

“bleeding” from her gums. The bleeding occurs most often during
brushing of her teeth. She has no other history of bleeding or other of disease that affect “young individuals.” There are speci c condi-
tions (namely puberty and diabetes) that can modify the gingival
11
friable (Figure 38-3).
O RAL HEALTH
ETIO LO GY AND PATHO PHYSIO LO GY bleeding a common feature; systemic symptoms may include fever,
malaise, easy bruising or bleeding, and bone or joint pain.
Actinomyces sp. and Capnocytophaga sp. MANAGEMENT

-
gression of gingivitis is typically associated with poor oral hygiene
form of direct parental involvement in performing oral hygiene

procedures.
susceptibility to gingivitis.
help. 14 SO R
effect. 12,13
PREVENTIO N & PATIENT EDUCATIO N
tooth crowding or orthodontic appliances) or prevent proper oral
hygiene (e.g., erupting teeth) may predispose areas to gingivitis
development. of Pediatrics’ position is that all children should visit a dentist by
the age of one or eruption of rst tooth.
-
RISK FACTO RS
PATIENT RESO URCES

.
.
.
DIAGNO SIS
CLINICAL FEATURES
MUCO CELE
papillary) gingiva with shiny surface appearance.
PATIENT STO RY
prevalence of bleeding upon provocation (e.g., during
toothbrushing). An 11-year-old boy presents with a chief complaint of a “bump”on his lip
and is painless, unless he bites on it, which sometimes happens when he

DIFFERENTIAL DIAGNO SIS is playing. A mucocele was the working clinical diagnosis ( ).
The lesion was excised and the child healed uneventfully.
may be painful; often associated with pregnancy.

INTRO DUCTIO N
sudden onset and classically associated with a foreign body of
some type. Traumatic injury or pathologic alteration of minor salivary glands in
the lip may result in mucous accumulation (pseudocyst). This may
-
pain, bleeding, and necrotic (punched out) interdental (papillary) mulation and extravasation.
and/ or marginal gingiva; typically sudden onset; associated with
smoking and stress-inducing conditions.
- SYNO NYM
nied by systemic manifestations (petechiae, ecchymoses, or
food supply.
PART 6
236 CHAPTER 38
O RAL HEALTH
FIGURE 38-5 Mucoce le on the lowe r lip of this child . (Use d with p e r-
mission from Dimitris N. Tatakis DDS, PhD.)
DIAGNO SIS
CLINICAL FEATURES
persisting for longer periods.

FIGURE 38-4 Mucoce le ap p are nt on the lowe r lip of this b oy. (Use d -
with p e rmission from Dimitris N. Tatakis DDS, PhD.) nosis can only be made following histological examination, which
reveals mucin and minor salivary gland components.
EPIDEMIO LO GY DIFFERENTIAL DIAGNO SIS
with no gender
predilection.
6 months.
18
MANAGEMENT
mucous extravasation into adjacent tissues. 16 glands may result in recurrence.
is a de nitive treatment of mucoceles. SO R

( ).
PREVENTIO N
RISK FACTO RS
challenging.
more prone to lip biting as well as those patients with self-injurious

biting behaviors.
O RAL HEALTH
PATIENT EDUCATIO N the most common oral lesions.

PATIENT RESO URCES
. -
tion or persistent trauma.
oral habits may contribute to chronic irritation.

GINGIVAL FIBRO MA
PATIENT STO RY RISK FACTO RS
bump on her gums” (

hygiene, a regular dentist and no clinical evidence of dental caries. An
excisional biopsy was performed and a diagnosis of gingival broma
was made. DIAGNO SIS
CLINICAL FEATURES
INTRO DUCTIO N -
bery consistency, and sessile base.
history.
differential diagnoses, histopathological examination is warranted.
SYNO NYM
Traumatic broma or irritation broma.
EPIDEMIO LO GY lesion).
MANAGEMENT
conservative and highly effective method of management. SO R
PREVENTIO N
chronic trauma.
PATIENT EDUCATIO N
PATIENT RESO URCES
FIGURE 38-6 Fib roma se e n on the up p e r g ing iva of a child . (Use d .

with p e rmission from Dimitris N. Tatakis DDS, PhD.)
PART 6
238 CHAPTER 38
O RAL HEALTH
REFERENCES
status in insulin-dependent diabetic adolescents. J Clin Periodontol.
J Periodontol.
and anomalies in neonates. Pediatrics. Journal of IMAB
Cleft Palate J.
incidence and effect of frenuloplasty on the breastfeeding dyad.

Pediatrics
Pediatric Dermatology.
ankyloglossia with maternal cocaine use. Cleft Palate Craniofac J.
-
Dermatol Online J.
division of tongue-tie in infants with feeding problems. J Paediatr
Child Health
Eur J Paediatric
J Paediatr Child Health.
Dent.
-
Periodontology.
J Oral Maxillfac Surg
Vital Health Stat 1
- Pediatric
mental gingivitis in children. Infect Immun Dentistry.
the occurrence of Prevotella intermedia and sex hormones. J Clin J Oral Pathol Med.
Periodontol.
PART 6
HERPES SIMPLEX VIRUS GINGIVO STO MATITIS 239
O RAL HEALTH
39 HERPES SIMPLEX VIRUS EPIDEMIO LO GY

GINGIVO STO MATITIS -
Camille Sab e lla, MD tions of HSV infections are apparent in a small proportion of
patients who become infected. 1
2
PATIENT STO RY -
tible host and a contact who is shedding the virus.
A 12-month-old previously healthy boy is seen in the of ce with a
3-day history of fever and ulcerative lesions on his lips and mouth. who is shedding the virus after primary infection or after reactiva-
Over the past day the lesions had spread to his face and around his tion of the virus.
eye (Figure 39-1). His mother has noted that the lesions have
evolved from at to raised lesions to uid- lled ulcers. The boy has
been irritable, and over the past day, has refused to eat and drink.
He appears dehydrated and is admitted to the hospital for intravenous ETIO LO GY AND PATHO PHYSIO LO GY
uid hydration.
INTRO DUCTIO N abraded skin or mucosal surfaces.
Primary herpes simplex virus (HSV) infection occurs commonly ganglia, where the virus replicates and then returns to the inocula-
in infants and children. While most infections are asymptomatic, tion site via peripheral sensory ganglia. 3
the most common clinical manifestation of primary HSV infection
is gingivostomatitis. This infection in otherwise healthy infants
primary infection than following reactivation of the virus.
and children is self-limited, but can occasionally lead to dehydra-
tion and hospitalization. Immunocompromised individuals who
are infected with HSV may have more severe and systemic viruses; latency is established in the trigeminal ganglia.
manifestations.
virus down the neuroaxis, causing shedding of the virus and pos-
sible recurrent skin lesions.
SYNO NYMS
RISK FACTO RS
Oro-labial HSV infection; cold sores; fever blisters; herpetic
stomatitis.
ultraviolet light, intercurrent infections, manipulation of nerve
roots, dental manipulation, hormonal changes, and immunosup-
pression.
DIAGNO SIS
CLINICAL FEATURES
Primary infe ctions
common in symptomatic patients.
tongue, lip, and face (Figures 39-2 and 39-3).

Figure 39-4).
or as a manifestation of the primary infection (Figure 39-5).

FIGURE 39-1 Ve sicular le sions of p rimary HSV infe ction in a 12-month-
old infant. (Use d with p e rmission from Johanna Gold farb , MD.) base.
PART 6
240 CHAPTER 39
O RAL HEALTH
FIGURE 39-2 HSV stomatitis in an infant. Note the cluste r of ve sicle s

on the up p e r lip . (Use d with p e rmission from Johanna Gold farb , MD.)
FIGURE 39-5 Pe riorb ital ve siculo-b ullous HSV le sions in a tod d le r.
(Use d with p e rmission from Paul Rychwalski, MD.)
of the mouth and face, and may evolve into disseminated disease
(Figure 39-6).
Re activation
asymptomatic infection/ shedding.
prodromal burning, pain, tingling may precede the eruption by

1 to 2 days. 5
FIGURE 39-3 HSV stomatitis in a school-ag e d child . (Use d with

p e rmission from Camille Sab e lla, MD.)
2 days, and heal completely within 7 to 10 days.
FIGURE 39-4 HSV stomatitis in the same child . Note the marke d FIGURE 39-6 HSV stomatitis in a child who has acute le uke mia. Note
g ing ival e d e ma, characte ristic of a p rimary HSV infe ction. (Use d with the wid e sp re ad involve me nt of the infe ction. (Use d with p e rmission
p e rmission from Camille Sab e lla, MD.) from Camille Sab e lla, MD.)
PART 6
HERPES SIMPLEX VIRUS GINGIVO STO MATITIS 241
O RAL HEALTH
DISTRIBUTIO N
tongue, lips, and facial areas.
reactivation.
be obtained by aspirating contents of intact skin lesions or by swab-

bing the base of the denuded skin lesions.
method of diagnosing an active HSV infection. 6

FIGURE 39-7 Ste ve ns-Johnson synd rome , characte rize d b y ne crosis
vesicular lesions and much lower from a crusted lesion. 6 and sloug hing of the mucosa. (Use d with p e rmission from Camille
Sab e lla, MD.)
effect is 2 to 5 days. However, immuno uorescent staining of

tissue cell cultures can rapidly con rm the presence of HSV and REFERRAL
distinguish between HSV-1 and HSV-2.
-
matitis may be referred to a pediatric infectious diseases specialist to
unroo ng a lesion and removing cells from the base of the lesion) discuss possible suppressive therapy.
is 80 to 90 percent sensitive and very speci c. This can provide a
rapid diagnosis. 7,8
PRO GNO SIS
immuno uorescent staining.

PATIENT EDUCATIO N
commonly occurs inside the mouth rather than on the lips and
external to the mouth. Parents should be counseled that oral HSV infections in otherwise
healthy children are benign and self-limited, are often asymptomatic,
with more systemic manifestations, such as rash and eye involve-
ment, as well as more severe oral involvement with necrosis and PATIENT RESO URCES
sloughing of the mucosa (Figure 39-7). HSV is a recognized cause
conditions/ skin/ Pages/ Herpes-Simplex-Virus-
Cold-Sores.aspx.
MANAGEMENT http:// www.nlm.nih.gov/ medlineplus/ coldsores.html.

MEDICATIO NS
lesions, and results in earlier disappearance of fever, extraoral Red

lesions, and drinking and eating dif culties. 9 SO R Book: 2012 Report of the Committee on Infectious Diseases.
infection with intravenous acyclovir. SO R

REFERENCES
acyclovir is marginally effective in immunocompetent
hosts. 10,11 SO R Principles and practice of pediatric infectious diseases.
Lancet
infection. Pediatric studies are lacking.
PART 6
242 CHAPTER 39
O RAL HEALTH
of recurrent disease. J Infect Dis. blind placebo controlled study. BMJ

-
primary herpes simplex virus type 1 infection in a closed com- rent herpes simplex labialis with oral acyclovir. J Infect Dis.
munity. Pediatrics.
herpes simplex labialis with topical acyclovir in polyethylene

therapy. N Engl J Med. glycol. J Infect Dis
isolation, direct immuno uorescence, and indirect immunoper-

placebo-controlled trial. Ann Intern Med.
infection. J Clin Microbiol.
- of ultraviolet radiation-induced herpes simplex labialis and
response to therapy with peroral and topical formulation of
rapid diagnosis. J Infect Dis. acyclovir. J Infect Dis
-
simplex virus in direct specimens by immuno uorescence assay tion of herpes simplex labialis in skiers. JAMA.
using a monoclonal antibody. J Clin Microbiol
PART 6
APHTHO US ULCER 243
O RAL HEALTH
40 APHTHO US ULCER EPIDEMIO LO GY

aphthous ulcers. 1
PATIENT STO RY reported to have RAUs.
A 5-year-old girl is in her pediatrician’s of ce for her school physical 40 years, in whites, in nonsmokers, and in people of high
and immunizations when her mother asks about her child’s complaint socioeconomic status.
of mouth pain. The girl is otherwise healthy and on physical examina-
tion a small round ulcer is seen on the nonkeratinized mucosa above
the upper teeth (Figure 40-1). The necrotic center with slightly ETIO LO GY AND PATHO PHYSIO LO GY
raised borders and surrounding erythema were easily recognized fea-
tures of an aphthous ulcer. The pediatrician reassured the mother that
this will go away spontaneously without medication or treatment. unknown, although a variety of host and environmental factors
She suggested to avoid giving the child acidic or spicy foods in the have been implicated.
coming days and to be careful to not traumatize the ulcer further
with vigorous toothbrushing. genetic predisposition is suggested by an increased frequency of
INTRO DUCTIO N in the patients with RAUs. Many conditions that increase the inci-
Aphthous ulcers are painful ulcerations in the mouth, which can be sin- and celiac disease, also shift the immune response toward the Th1
gle, multiple, occasional, or recurrent. These ulcers can be small or subtype. Conditions and medications that inhibit the Th1 immune
large but are uniformly painful and may interfere with eating, speaking, response pathway, such as pregnancy, thalidomide, glucocorti-
and swallowing. Oral trauma, stress, and systemic diseases can contrib- coids, and tetracycline, decrease the incidence of RAUs.
ute to the occurrence of these ulcers but no precise etiology is apparent.
Recurrent aphthous stomatitis (RAS) is a frustrating condition that
merits aggressive treatment aimed at pain relief and prevention. of tumor necrosis factor (TNF)-α
the ulcerative stage of RAUs. Medications that have anti–TNF-α
effects, such as pentoxifylline, levamisole, and thalidomide, have
SYNO NYMS also been found to be useful in the treatment of RAUs.
Canker sores, aphthous stomatitis, aphthae, recurrent aphthous ulcer associated with RAUs, there is still much to learn regarding their
(RAU), or recurrent aphthous stomatitis (RAS). etiology and pathogenesis.
RISK FACTO RS
β -blockers, or angiotensin-converting
, or folate).
DIAGNO SIS
CLINICAL FEATURES
FIGURE 40-1 Ap hthous ulce r located on unke ratinize d (movab le ) History:
mucosa in a 5-ye ar-old g irl. It is slig htly raise d, round, with a white-ye llow
necrotic cente r and surrounding e rythe ma. (Used with p e rmission from
Richard P. Usatine , MD.) exacerbated by moving the area affected by the ulcer.
PART 6
244 CHAPTER 40
O RAL HEALTH
FIGURE 40-2 Major ap hthous ulce r on the b uccal mucosa of a man FIGURE 40-4 Ap hthous ulce r ne ar the tonsillar mucosa in a young b oy
who has b e e n suffe ring with re curre nt ap hthous stomatitis for the p ast with a sore throat. (Use d with p e rmission from Richard P. Usatine , MD.)
ye ar. (Use d with p e rmission from Richard P. Usatine , MD.)
third decade of life. 1

content. -
membrane and surrounded by an erythematous halo (Figure 40-1).
medications.
pain. Aphthous ulcers usually involves nonkeratinizing mucosa (e.g., labial
mucosa, buccal mucosa, or ventral tongue) (Figure 40-3). Aphthous
Physical: ulcers spare the attached gingiva and the hard palate (nonmovable
ulcers: mucosa (Figure 40-4).

Figure 40-1)—most common. CLASSIFICATIO N
Figure 40-2). Simple aphthosis—Aphthae are few at a time, not associated with
Complex aphthosis—Aphthae are associated with systemic diseases,

single, or multiple ulcers less than 1 cm in diameter that usually there are many lesions at one time, which can include genital aphthous
heal in 10 to 14 days without scarring. ulcers, or there is a continuous disease activity with new ulcers devel-
oping as older lesions heal or the ulcers recur more often than 4 times
LABO RATO RY TESTS

The diagnosis of a single episode of aphthous ulcers is usually based on
, folate, erythrocyte sedimentation
there is evidence of malabsorption, consider testing for celiac disease
such as fever, malaise, anorexia, and sore throat. The ulcers are
FIGURE 40-3 O ne small ap hthous ulce r on the lowe r lab ial movab le located on movable and nonmovable oral mucosa (includes attached
mucosa of a child . (Use d with p e rmission from Richard P. Usatine , MD.) gingiva and hard palate). Lesions may also appear on keratinized
PART 6
APHTHO US ULCER 245
O RAL HEALTH
Chapter 114, Herpes Simplex).
involving the hand, foot, and mouth caused by enterovirus. Any

area of oral mucosa may be involved. Lesions resolve within 1 week
soft palate and the anterior fauces (Figure 29-9

coxsackievirus A16 in most cases. The distribution of the ulcers is
different than in aphthous ulcers.
white plaque with a tongue depressor and add KOH to the slide
-
Mycoplasma pneumoniae, or
exposure to certain drugs or medications. Oral lesions begin as patches FIGURE 40-5 Be hçe t d ise ase characte rize d b y re curre nt oral and
g e nital ulce rs in a 17-ye ar-old g irl. (Use d with p e rmission from Richard
and evolve into large shallow erosions and ulcerations with irregular P. Usatine , MD.)
borders. Common sites include the lip, tongue, buccal mucosa, oor of
the mouth, and soft palate. The presence of targetoid skin lesions should a multi-system vasculitis and referral to a rheumatologist may also
help differentiate EM from RAS (see Chapter 151, Erythema Multi-
forme, Stevens-Johnson Syndrome, and Toxic Epidermal Necrolysis).
-
tis) is also a complex aphthosis condition with systemic symptoms
recurrent oral aphthous ulcers (Figure 40-5 and multiple areas of involvement (see Chapter 176, Periodic
Fever Syndromes).
clinical criteria that require recurrent oral ulcers and two of the fol- MANAGEMENT
lowing: recurrent genital ulcers, ocular in ammation, de ned skin
lesions, and pathergy.5
- oral trauma. Stress management is reasonable for all persons. See
Table 40-1 for an evidence-based summary of treatments.
TABLE 40-1 Evid e nce -b ase d Summary of Tre atme nts
To t al
Pat ie nt s
Tre at me nt Ro ut e / Co mp ariso n St ud ie d O ut co me s Be ne t
Amle xanox Top ical q id /p lace b o 1335 Pain-free by Day 3 NNT = 5 (42% vs 22%; P < .05)
5 p e rce nt Ulcer resolution at prodromal NNT = 1.6 (97% vs 35%; P < .01)
p aste 6 stage NNT = 7 (47% vs 21%; P < .05)
Ulcer healed by Day 3
Corticoste roid s Top ical q id 116 Pain re d uction 3 of 4 clinical trials show b e ne t
(various)7
Silve r nitrate 9 1-time top ical 97 Pain re d uction b y Day 1 NNT = 1.7 (70% vs 10%; P < .001)
ap p lication/p lace b o
De b acte rol10 1-time top ical 60 Comp le te ulce r re solution NNT = 1.4 (100% vs 30%; P < .01)
ap p lication/p lace b o b y Day 6
Chlorhe xid ine 13 Mouthwash q id 77 Re d uction in total d ays with 2 of 3 trials show b e ne t
ulce rs
Vitamin B1214 O ral d aily for p rop hylaxis 58 No ne w ulce rs b y 6 months NNT = 2.3 (74% vs 32%; P < .01)
Ad ap te d from: Baile y J, McCarthy C, Smith RF. Clinical inq uiry. What is the most e ffe ctive way to tre at re curre nt canke r sore s? J Fam
Pract. 2011;60:621-632. With p e rmission from Frontline Me d ical Communications.
PART 6
246 CHAPTER 40
O RAL HEALTH
NO NPHARMACO LO GIC as trauma from a rm toothbrush could precipitate an aphthous

Most isolated aphthae require no treatment or only periodic topical ulcer.
therapy.
PATIENT RESO URCES
MEDICATIO NS Canker Sores (Aphthous Ulcers)—
www. medicinenet.com/ canker_sores/ article.htm.
duration, and healing time. 6
applied directly to ulcers four times a day until ulcers heal. 6 SO R PRO VIDER RESO URCES
Aphthous Ulcers—www.dermnetnz.org/
7
can promote healing and lessen the severity of RAS. Patients site-age-speci c/ aphthae.html.
should be instructed to dab the area of ulcer dry, apply the gel, Aphthous Ulcers—www.emedicine.medscape.
paste, or cream after rinsing, and avoid eating or drinking for at com/ article/ 867080.
SO R
Aphthous Stomatitis—www.emedicine.
medscape.com/ article/ 1075570.
reduce pain intensity compared to the placebo cream. 8 SO R
to the patient with recurrent orogenital ulceration, including

single application. The application is painful and probably would Clin Exp Immunol. http:// www.
only be acceptable to a teen wanting immediate relief of the pain. ncbi.nlm.nih.gov/ pmc/ articles/ PMC2674035/ .
This must be performed by the physician in the of ce. The time to
healing does not change.
REFERENCES
limited. 10
-
CO MPLEMENTARY AND ALTERNATIVE THERAPY ment of aphthous stomatitis. Pediatr Infect Dis J.
severity of pain by 50 percent in a small group of teens. They were Dermatol Ther
per day of ascorbate. 11
REFERRAL type response of the recurrent aphthous ulceration analyzed by

Consider referring children with periodic fever with aphthous stoma- J Oral Pathol Med
titis, pharyngitis, and adenitis (PFAPA) syndrome for tonsillectomy
or adenotonsillectomy. A meta-analysis found little evidence to sup- serum tumor necrosis factor-alpha level in patients with
port surgery, but the authors concluded that surgery is an option recurrent aphthous ulcerations. J Oral Pathol Med
when symptoms markedly interfere with the child’s quality of life and 111-116.
medical treatment has failed. SO R
to the patient with recurrent orogenital ulceration, including
Clin Exp Immunol
PREVENTIO N
Clin Drug Investig.
7. Rodriguez M, Rubio JA, Sanchez R. Effectiveness of two oral
recurrent aphthous ulcers in two of three studies. SO R
pastes for the treatment of recurrent aphthous stomatitis. Oral
was studied in a RCT of adults. A sublingual dose Dis.
was used by patients in the intervention
-
-
caine in the symptomatic treatment of pain associated with oral
ticipants in the intervention group reached a status of “no aphthous
mucosal trauma or minor oral aphthous ulcer: a randomized,
double-blind, placebo-controlled, parallel-group, single-dose
level. 14 SO R This could be
study. J Orofac Pain
aphthous stomatitis: a randomized controlled trial. Br J Dermatol.

PATIENT EDUCATIO N
Foods that are spicy or acidic worsen pain and should be avoided and an anti-in ammatory ointment for the treatment of recurrent
during outbreaks. Recommend the use of a soft bristled toothbrush aphthous stomatitis: a pilot study. Quintessence Int.
PART 6
APHTHO US ULCER 247
O RAL HEALTH
-
minor recurrent aphthous stomatitis. Acta Paediatr microbial mouthrinse on recurrent aphthous ulcerations. Oral
Surg Oral Med Oral Pathol.
with periodic fever with aphthous stomatitis, pharyngitis, and treating recurrent aphthous stomatitis: a randomized, double-blind,
adenitis syndrome. J Pediatr placebo-controlled trial. JAm Board Fam Med
PART 7
THE HEART AND

CIRCULATIO N
St re ng t h o f
(SO R) De nit io n

PART 7
250 CHAPTER 41
THE HEART AND CIRCULATIO N
41 CLUBBING AND SYNO NYMS

CYANO SIS Clubbing: Hypertrophic osteoarthropathy.
Danyal Thave r, MBBS Cyanosis: Central cyanosis or hypoxemia.
Athar M. Q ure shi, MD
EPIDEMIO LO GY
PATIENT STO RY
A 9-year-old boy from rural Asia was brought to the clinic by his par- and their incidence is dif cult to discern.
ents for complaints of being tired and “blue.” Further history reveals
that he has had frequent episodes of squatting after exertion which is seen mainly in developing nations.
relieves some of the symptoms temporarily. On exam, he has club-
bing of the ngers and toes with cyanosis of the lips and oral mucous
membranes (Figure 41-1). A harsh systolic ejection murmur is best ETIO LO GY AND PATHO PHYSIO LO GY
heard at the left mid and upper sternal border. An echocardiogram
con rms the diagnosis of tetralogy of Fallot.
hypothesized that it may result from megakaryocytes that have
bypassed the pulmonary vascular bed and entered the systemic cir-
INTRO DUCTIO N culation or from platelet clumps that form and/ or enter the sys-
Clubbing is the enlargement of the distal ngers or toes along with causing clubbing. 1,2
the formation of convex shaped ngernails or toenails.
Cyanosis is the bluish discoloration of the skin or mucous mem- platelets to bypass the lungs and hence cause clubbing. Conditions
branes due to increased quantity of deoxyhemoglobin in the blood. that result in platelet excess, that is, in ammatory bowel disease,
Unless otherwise speci ed, cyanosis in this chapter refers to central may also result in clubbing.
cyanosis.
and becomes apparent when deoxyhemoglobin in the blood
exceeds a value of 3 to 5 g/ dL (corresponding arterial saturations
of 70 to 85 percent). 3
RISK FACTO RS
Club b ing
endocarditis.
disease, liver cirrhosis.
Cyanosis
DIAGNO SIS
CLINICAL FEATURES
Club b ing
FIGURE 41-1 Ce ntral cyanosis of the lip s in this 9-ye ar-old b oy

with unre p aire d Te tralog y of Fallot. (Use d with p e rmission from Enlargement of the distal segments of affected extremities that is
Athar M. Q ure shi, MD.) usually painless develops (Figures 41-2 and Figure 41-3).
PART 7
CLUBBING AND CYANO SIS 251
FIGURE 41-2 Club b ing of the toe s in this 3.5 ye ar old with se ve re
immune d e cie ncy and chronic lung d ise ase —note the co nve x shap e d A
toe nails. (Use d with p e rmission from Johanna Gold farb , MD.)
A FIGURE 4 1 -4 Schamro th sig n. No rmal d iamo nd shap e d sp ace whe n

co rre sp o nd ing rig ht and le ft d ig its are o p p o se d as se e n in this
he althy 6-ye ar-o ld g irl (A). This sp ace is o b lite rate d in p atie nts with
sig ni cant club b ing (B) as se e n in this 4-ye ar-o ld b oy with tricusp id
atre sia and a Gle nn circulatio n. (Use d with p e rmission fro m
Athar M. Q ure shi, MD.)
When the nail beds of corresponding right and left digits are
opposed, the diamond-shaped space is obliterated (“Schamroth
sign”) (Figure 41-4).
“drumstick” appearance (Figure 41-5).
Cyanosis
B
FIGURE 41-3 Club b ing of the ng e rs (A) and toe nails (B) in a 4-ye ar-
old with cyanotic he art d ise ase consisting of tricusp id atre sia and a
Gle nn circulation. As op p ose d to the child in Fig ure 41-2, note the
cyanotic nail b e d s. (Use d with p e rmission from Athar M. Q ure shi, MD.) based on common risk factors (see the previous section).
PART 7
252 CHAPTER 41
cardiac defects.
needed for gastrointestinal causes.
Club b ing
Cyanosis
A saturations are present with a normal pO2.

-
branes) is due to sluggish blood ow and may occur with normal
due to vasospasm when they are cold and is usually transient.

(see Chapter 4, Birth of a Child, Figure 4-1).
MANAGEMENT
De nitive treatment of both clubbing and cyanosis is to treat the

underlying cause.
NO NPHARMACO LO GIC
B
FIGURE 41-5 Promine nt club b ing with cyanosis of the nailb e d s of the -
hand s is se e n in this 25-ye ar-old with uncorre cte d cyanotic cong e nital versible pulmonary hypertension from an unrepaired congenital
he art d ise ase (A). Drumstick like ap p e arance of an ind e x ng e r can
b e se e n in a sid e p ro le vie w (B). (Use d with p e rmission from cardiac defect causing a right to left shunt) or who have chronic
Athar M. Q ure shi, MD.) cyanosis from other reasons are at increased risk of polycythemia. 4
may result in iron de ciency.

DISTRIBUTIO N
MEDICATIO NS
-
dent in the nail beds, lips (Figure 41-1), and mucous membranes
of the oral cavity or conjunctivae. SURGERY
LABO RATO RY TESTING cause.
disease is strongly suggested if the oxygen saturation (and pO2) be indicated to repair congenital heart defects (as long as irrevers-
does not signi cantly increase. ible pulmonary hypertension is not present).
suspected. tumors) and for treatment of in ammatory bowel disease. Liver

transplant may be needed for end stage liver cirrhosis.
IMAGING
REFERRAL
other specialists may be required depending on the etiology.

PART 7
CLUBBING AND CYANO SIS 253
PATIENT RESO URCES

www.news-medical.net/ health/ Symptoms-of-
cyanosis.aspx.
chronic diseases.
www.emedicine.medscape.com/ article/ 1105946.
PRO GNO SIS

REFERENCES
reversed by treating the cause early in the disease course. the cause of nger clubbing. Lancet. 1987;330(8573):1434-1435.
-
thropathy. Eur J Clin Invest. 1993;23(6):330-338.
FO LLO W-UP
Fyler DC, eds. Nadas’ Pediatric Cardiology, 2nd ed. Elsevier,
2006;97-101.
nature of their underlying illnesses.
adults. Second of two parts. N Engl J Med. 2000;342(5):334-342.

PATIENT EDUCATIO N
and polycythemia, that is, potential cerebrovascular accidents or

brain abscess formation in cardiac lesions with right to left shunts.
PART 7
254 CHAPTER 42
42 ACYANO TIC
CO NGENITAL
HEART DISEASE
Asif Pad iyath, MD
Pe te r Aziz, MD
The three most important and common types of acyanotic congenital

heart disease are:
ATRIAL SEPTAL DEFECT
PATIENT STO RY
FIGURE 42-1 Atrial se p tal d e fe ct with ow from the le ft atrium to the

rig ht atrium as d e p icte d b y the re d arrow. (Re p rinte d with p e rmission,
Cle ve land Clinic Ce nte r for Me d ical Art & Photo g rap hy © 2012. All
Figure 42-1 Rig hts Re se rve d .)
INTRO DUCTIO N
EPIDEMIO LO GY
ETIO LO GY AND PATHO PHYSIO LO GY I
RISK FACTO RS
~
PART 7
ACYANO TIC CO NGENITAL HEART DISEASE 255
IMAGING
DIAGNO SIS
PHYSICAL EXAMINATIO N
MANAGEMENT
SO R
SO R
REFERRAL
ECG FINDINGS
PRO GNO SIS
Figure 42-2
FIGURE 42-2 ECG in a p atie nt with an ASD. Note the RSR’ p atte rn in V1 (incomp le te RBBB) and the “croche tag e p atte rn” in the infe rior le ad s
(II, III, aVF). (Use d with p e rmission from Pe te r Aziz, MD.)
PART 7
256 CHAPTER 42
FO LLO W-UP INTRO DUCTIO N
PATIENT RESO URCES

www.my.clevelandclinic.org/ disorders/ atrial_septal_
EPIDEMIO LO GY
defect/ hic_atrial_septal_defect_asd.aspx

www.ncbi.nlm.nih.gov/ pubmedhealth/ PMH0001210
7
www.cdc.gov/ ncbddd/ heartdefects/ index.html
VENTRICULAR SEPTAL DEFECT ETIO LO GY AND PATHO PHYSIO LO GY
PATIENT STO RY
Figure 42-3
RISK FACTO RS
DIAGNO SIS
FIGURE 42-3 Ve ntricular se p tal d e fe ct with ow from the le ft ve ntricle
to the rig ht ve ntricle as d e p icte d b y the re d arrow. (Re p rinte d with
p e rmission, Cle ve land Clinic Ce nte r for Me d ical Art & Photog rap hy
© 2012. All Rig hts Re se rve d .)
PART 7
FO LLO W-UP
IMAGING AND O THER INVESTIGATIO NS

PATIENT EDUCATIO N
PATIENT RESO URCES

www.my.clevelandclinic.org/ heart/ disorders/
congenital/ septal.aspx
DIFFERENTIAL DIAGNO SIS PRO VIDER RESO URCES

overview
MANAGEMENT
PATENT DUCTUS ARTERIO SUS
PATIENT STO RY
~
SO R
SO R
Figure 42-4
SO R
INTRO DUCTIO N
SO R
REFERRAL
(Figure 42-4
PRO GNO SIS EPIDEMIO LO GY

PART 7
258 CHAPTER 42
IMAGING
FIGURE 42-4 Pate nt d uctus arte riosus with ow from the aorta to
the p ulmonary arte ry as d e p icte d b y the re d arrow. (Re p rinte d with MANAGEMENT
© 2012. All Rig hts Re se rve d .)
~
9 SO R
SOR
RISK FACTO RS
SO R
REFERRAL
DIAGNO SIS PREVENTIO N

CLINICAL FEATURES
SO R
PART 7
PRO GNO SIS
Heart
Int J Cardiol
FO LLO W-UP
Pediatrics
PATIENT RESO URCES

Pediatrics
www.my.clevelandclinic.org/ childrens-hospital/
health-info/ diseases-conditions/ heart/ hic-Patent-
Ductus-Arteriosus.aspx
N Engl J Med
Pediatrics
REFERENCES
The Annals of thoracic surgery
Radiographics
CORD Conference Proceedings. N Engl J Med
Pediatrics
Journal of the
American College of Cardiology Moss and adams heart disease in infants, children, and ado-
lescents: Including the fetus and young adult
Pediatr Cardiol
PART 7
260 CHAPTER 43
43 CYANO TIC CO NGENITAL (resulting in a right to left shunt) and manifests as cyanosis in the
neonatal period.
HEART DISEASE
EPIDEMIO LO GY
Amara Maje e d , MBBS
in the US, affecting nearly 1 percent of newborns, although this
number is variable depending on methodology. 1
-
PATIENT STO RY genital heart disease have cyanotic defects.
2
A 20-day-old baby boy is brought into the emergency department by ~ Tetralogy of Fallot (Figure 43-1), transposition of the great
his parents who noticed that he was “blue.” On examination, he is
arteries (Figure 43-2), truncus arteriosus, tricuspid atresia, total
alert and is cyanotic with an oxygen saturation of 83 percent. His
anomalous pulmonary venous return, or pulmonary valve stenosis
cardiac exam reveals a mild right precordial heave with a harsh, long-
(severe or critical pulmonary valve stenosis).
grade 3/ 6 systolic ejection murmur at left upper sternal border. In ~
the ED, he becomes more cyanotic (oxygen saturation of 60%), irri-
pulmonary atresia, or multiple single ventricle variants.
table and his murmur becomes softer. An echocardiogram was per-
formed which identi ed cyanotic congenital heart disease (Tetralogy
of Fallot) (Figure 43-1). He was treated medically and then under-
went palliative surgery with a Blalock Taussig shunt. He was dis-
charged in stable condition to be followed up on an outpatient basis
until he could have further corrective surgery at a later date.
-
ing in a right to left shunt, systemic arterial desaturation and
INTRO DUCTIO N clinical cyanosis.
Cyanotic congenital heart disease is an anatomic malformation of the

heart or great vessels which occurs during intrauterine development
FIGURE 43-2 Transp osition of the g re at arte rie s with the aorta arising
from the rig ht ve ntricle and the p ulmonary arte ry arising from the le ft
FIGURE 43-1 Te tralog y of Fallot. Note the four comp one nts, “ante rior- ve ntricle . Mixing (via an atrial se p tal d e fe ct, ve ntricular se p tal d e fe ct or
malalig ne d ” VSD, p ulmonary ste nosis, ove r-rid ing aorta and rig ht p ate nt d uctus arte riosus) is e sse ntial for survival b e fore corre ctive sur-
ve ntricular hyp e rtrop hy. (Re p rinte d with p e rmission, Cle ve land Clinic g e ry. (Re p rinte d with p e rmission, Cle ve land Clinic Ce nte r for Me d ical
Ce nte r for Me d ical Art & Photog rap hy © 2012. All Rig hts Re se rve d .) Art & Photog rap hy © 2012. All Rig hts Re se rve d .)
PART 7
CYANO TIC CO NGENITAL HEART DISEASE 261
-
able and not the primary underlying problem.
RISK FACTO RS
Hereditary or genetic risk factors
1,3
anticonvulsants, thalidomide, organic solvents). 4

4
FIGURE 43-3 CXR (AP vie w) of an infant with te tralog y of Fallot. Note
the up turne d card iac ap e x and concave p ulmonary shad ow re p re se nt-
Fetal risk factors ing a “b oot-shap e d he art.” Re lative ly d ark lung e ld s from d e cre ase d
p ulmonary b lood ow are also se e n. (Use d with p e rmission from Athar
M. Q ure shi, MD.)
abnormal fetal situs, chromosomal abnormality, and monochori-
onic twins.

DIAGNO SIS
CLINICAL FEATURES excluded with the previous history and imaging studies.
-
tion, and hypoadrenalism.
to thrive may be present depending on the speci c lesion.
saturation, and hypotension. MANAGEMENT
may be present. NO NPHARMACO LO GICAL

-
coarctation of aorta. toring to ensure adequate perfusion and oxygenation.
murmur depending on the type of lesion.
subcostal retractions, and hepatomegaly.

MEDICATIO NS
having ductal dependent physiology.
of cyanosis. The oxygen saturation and PO2 does not signi cantly
increase with cyanotic congenital heart disease.
may be used depending on the physiology present.
rule out sepsis are generally indicated.
IMAGING SURGERY
Figure 43-3).
between the left and right atria in patients with transposition

PART 7
262 CHAPTER 43
of the great arteries or left sided obstructive lesions

(Figure 43-4).
increase blood ow across the valve (Figure 43-5).
heart disease is cardiac surgery. The timing of the surgical proce-

dures is variable depending on the type of lesion. For each of the
common lesions the surgical procedure most commonly performed
relief of obstruction to pulmonary ow (Figure 43-6).

~ Transposition of the great arteries—arterial switch operation
(Figure 43-7).
~
operation, and then Fontan operation. A

~
common pulmonary venous con uence to the left atrium.

~
pulmonary artery conduit placement.
REFERRAL
medicine specialist, obstetrician, neonatologist, or geneticist.
PREVENTIO N
disease, and avoiding teratogen exposure during pregnancy.

B
SCREENING
18 to 22 weeks of gestation.
factors (see preceding section) for congenital heart anomalies.
for any associated abnormalities.
PRO GNO SIS
left untreated. With prompt diagnosis and treatment, however,

the prognosis is favorable for most lesions.
been associated with stroke, organ damage, impaired muscle

performance, thrombosis, and vascular damage amongst other
devastating consequences. 5
C
FO LLO W-UP FIGURE 43-4 Transthoracic e cho card iog ram of an infant with se ve re
cyanosis from transp o sition of the g re at arte rie s (TGA). A.The re is mini-
mal ow across the ASD (arrow) initially (4-a). B. Following a cathe te r-
b ase d b alloon (arrows) atrial se p tostomy (4-b ). C. The re is much
imp rove d ow and a larg e r ASD (arrow) (4-c). This p roce d ure is critical
correction is necessary to address continued medical management for many p atie nts with TGA and allows survival until corre ctive surg e ry
and long term complications associated with corrected circulations. can b e p e rforme d . (RA = rig ht atrium, LA = le ft atrium). (Use d with p e r-
mission from Athar M. Q ure shi, MD.)
PART 7
CYANO TIC CO NGENITAL HEART DISEASE 263
FIGURE 43-5 Balloon valvulop lasty in the card iac cathe te rization lab o-
ratory in a ne wb orn with critical p ulmonary valve ste nosis and cyanosis.
Note the “waist” in the b alloon (arrows) that corre sp ond s to the narrow
valve ori ce . This will b e e liminate d with full b alloon in ation. (Used with
p e rmission from Athar M. Q ure shi, MD.)
FIGURE 43-7 Surgical correction for transposition of the great arteries

(TGA)—the arterial switch operation, which establishes a physiologic and
PATIENT EDUCATIO N anatomic correction of the defect. The great vessels are “switched” and
coronary artery buttons are created and moved over to the “neo” aorta.
(Reprinted with permission, Cleveland Clinic Center for Medical Art &
Patients with congenital heart disease need complex and multifaceted Photography © 2012. All Rights Reserved.)
care in order to ensure their continued survival and improve their
quality of life. Teams of specialists are needed to care for families and
patients prior to conception, in childhood and in adulthood. PATIENT RESO URCES
www.pted.org.
www.my.clevelandclinic.org/ childrens-hospital/
health-info/ diseases-conditions/ heart/ hic-pediatric-
congenital-heart-defects.aspx.

REFERENCES
J Am Coll Cardiol
in the neonate and young infant. Pediatr Rev.
and Fyler DC, eds. Nadas’ Pediatric Cardiology, 2nd ed. Elsevier,
2006;49-72.
-
ti c statement from the American Heart Association Council on
FIGURE 43-6 Comp le te re p air for te tralog y of Fallot, involving VSD Academy of Pediatrics. Circulation
closure , and re lie f of the p ulmonary ste nosis (in this case with a “trans-
annular p atch” across the p ulmonary valve annulus). (Re p rinte d with
© 2012. All Rig hts Re se rve d .) congenital heart disease. Cardiology in the Young 2010;242-253.
PART 7
264 CHAPTER 44
44 BACTERIAL ENDOCARDITIS
PATIENT STO RY
A 14-year-old girl with a history of mitral regurgitation that compli-

cated rheumatic heart disease was brought in by her parents after two
weeks of intermittent low-grade fevers, fatigue, weakness, arthral-
gias, and myalgias. On examination, she appeared ill, was febrile, and
had a heart murmur. Her funduscopic examination revealed Roth
spots (Figures 44-1 and 44-2). Her blood cultures grew Streptococcus
mitis. An echocardiogram demonstrated a vegetation on the mitral FIGURE 44-2 Close -up of a Roth sp ot, which is actually a cotton-wool
valve. She was hospitalized and treated for bacterial endocarditis. sp ot surround e d b y he morrhag e . The cotton-wool come s from ische mic
b ursting of axons and the he morrhag e come s from ische mic b ursting
of an arte riole . (Use d with p e rmission from Paul D. Come au.)
INTRO DUCTIO N -
Bacterial endocarditis is a serious infection that in the pediatric popu- respectively.

lation is seen most commonly in patients with congenital heart dis-
ease, prosthetic valves, injection drug users, and patients with
indwelling central venous catheters. The diagnosis is made based on
the Duke Criteria. The rate of cure with appropriate antibiotics and had some type of congenital heart disease.
surgical management, when indicated, is high, and facilitated by
prompt diagnosis and vigilance in recognizing complications. admissions.

EPIDEMIO LO GY
1
between systemic and pulmonary circulation (as in various congeni-
tal heart diseases) damages endothelium.
sterile thrombus.
bacteremia.
Streptococcus mitis and Streptococcus oralis) Staphylococcus aureus,

coagulase-negative Staphylococci, Enterococci, Candida spp, and rarely
Streptococcus pneumoniae.
-
matic fever, unrepaired congenital heart disease, and late postopera-
tive endocarditis.
S aureus
-
ciated with endocarditis after cardiac surgery and with prosthetic
valves; S aureus is also common as a cause of endocarditis in individ-
uals who have normal hearts and in intravenous drug users.
Candida spp., are especially com-
mon in those who have hospital-acquired endocarditis, those with cen-
tral venous catheters, those with prosthetic valves, and in neonates.
FIGURE 44-1 Roth sp ots that are re tinal he morrhag e s with white ce n-
te rs se e n in b acte rial e nd ocard itis. The se can also b e se e n in le uke mia
and d iab e te s. (Use d with p e rmission from Paul D. Come au.) endocarditis in the pediatric population and include Haemophilus,
PART 7
BACTERIAL ENDO CARDITIS 265
FIGURE 44-3 Patholog y sp e cime n of a p atie nt who d ie d o f b acte rial

e nd ocard itis. Bacte rial g rowth can b e se e n on the thre e cusp s of this
he art valve . (Use d with p e rmission from Larry Fowle r, MD.)
Actinobacillus, Cardiobacterium, Eikenella, and Kingella (neonates and

immunocompromised).
production, enlarging the vegetations on the heart valves.

Figure 44-3). FIGURE 44-4 Jane way le sions on the p alm of a woman hosp italize d
This process can lead to death if not treated adequately in time. with acute b acte rial e nd ocard itis. The se we re not p ainful. (Use d with
p e rmission from David A. Kasp e r DO , MBA.)
kidney.
~
dehiscence of a prosthetic valve.

RISK FACTO RS4 I New valvular regurgitation.
acquired valvular defect, injection drug use, prior history of

endocarditis).
I
mycotic aneurysms, intracranial hemorrhages, splinter hemor-

rhages, Osler nodes, Roth spots, or Janeway lesions (Figures
44-1, 44-2, and 44-4 to 44-7).
pulmonary shunt. I
DIAGNO SIS I -
tis that do not meet major criteria.
-
CLINICAL FEATURES
low-grade.
patients.
or three minor criteria are present.
~
Figure 44-5).
I viridans Streptococci
I
I Coxiella burnetti
(Q fever). bleeding from septic emboli or cerebral mycotic aneurysms.
PART 7
266 CHAPTER 44
FIGURE 44-7 Sp linte r he morrhag e s ap p e aring as re d line ar stre aks

und e r the nail p late and within the nail b e d . Althoug h e nd ocard itis can
cause this, sp linte r he morrhag e s are more commonly se e n in p soriasis
FIGURE 44-5 Jane way le sions and p e te chial le sions on the sole of a and trauma. (Use d with p e rmission from Richard P. Usatine , MD.)
17-ye ar-old b oy who was hosp italize d with S aure us b acte re mia and
e nd ocard itis. (Use d with p e rmission from Blanca Gonzale z, MD.)
in the arterial wall, most commonly in the thoracic aorta, also

found in the cerebral arteries.
Figure 44-7).
on the palms, and soles (Figures 44-4 and 44-5).

-
patients with endocarditis.
digits (Figure 44-6).
Figures 44-1
and 44-2).
aortic stenosis of bicuspid valve).
FIGURE 44-6 O sle r nod e causing p ain within p ulp of the b ig toe in LABO RATO RY AND ANCILLARY TESTING
the same woman hosp italize d with acute b acte rial e nd ocard itis. (O sle r
nod e s are p ainful—re me mb e r “O ” for O uch and O sle r.) Note the mul-
tip le p ainle ss at Jane way le sions ove r the sole of the foot. (Use d with
p e rmission from David A. Kasp e r DO , MBA.)
PART 7
BACTERIAL ENDO CARDITIS 267
most commonly aortic, no fever, and negative blood cultures.
MANAGEMENT
be admitted to the hospital.
blood cultures are obtained prior to the start of intravenous

antibiotics. SO R
MEDICATIO NS
FIGURE 44-8 Transe sop hag e al e chocard iog ram in a te e nag e b oy with
e nd ocard itis of a p rosthe tic rig ht ve ntricle to p ulmonary arte ry cond uit.
Note the ve g e tation (white arrow) attache d to the p ulmonary valve le af- likely organism based on the age, risk factor, preexisting heart
le ts (ye llow arrow). (Use d with p e rmission from Athar Q ure shi, MD.)
disease, recent surgery, clinical presentation, and most likely mode
of acquisition.
patients with endocarditis.

Staphylococcus
of nafcillin when there is concern about methicillin-resistant

Staphylococcus aureus
IMAGING involved (with gentamicin). The typical treatment duration is
susceptibility results.
indicated in the pediatric population but is occasionally required for β -lactam
adolescent and young adults (Figure 44-8). when the organism is susceptible; current evidence does not
support adding an aminoglycaside. SO R
DIFFERENTIAL DIAGNO SIS ~ Congestive heart failure is severe with mitral or aortic
regurgitation.
~
antibiotic therapy, abscesses or perivalvular involvement occurs,

on the disorder, negative blood cultures, normal echocardiogram.
~
cultures with atypical organisms, normal echocardiogram in non- of embolic events is high because of vegetations larger than
SO R
cardiac causes.
-
normal echocardiogram. carditis and are contraindicated with cerebral complications or
aneurysms.
PREVENTIO N
long-term antibiotics and close follow-up.

failure, often located off valves in cardiac chambers, negative blood
cultures.
regarding the importance of prophylactic antibiotics before certain
PART 7
268 CHAPTER 44
SO R adequate treatment.
I
I Cardiac transplant recipients with cardiac valvuloplasty.

I -
paired cyanotic CHD; CHD repaired with prosthetic material
PATIENT RESO URCES
at or adjacent to the site of a prosthetic device.
~ no longer recommended for patients with
mitral valve prolapse. risk for bacterial endocarditis and a printable wallet card for at-
~
www.heart.org/
HEARTORG/ Conditions/ CongenitalHeartDefects/
I Any dental procedure that involves manipulation of gingival TheImpactofCongenitalHeartDefects/ Infective-
tissue or the periapical region of teeth or perforation of the Endocarditis_UCM_307108_Article.jsp.
oral mucosa. SO R
I Respiratory procedures involving incision or biopsy of the respi- PRO VIDER RESO URCES
ratory mucosa such as a tonsillectomy or adenoidectomy. SOR
I
www.circ.ahajournals.org/ content/
~ no longer recommended for patients 116/ 15/ 1736.full.pdf.
undergoing gastrointestinal or genitourinary procedures. SO R
~
www.circ
.ahajournals.org/ content/ 111/ 23/ e394.full.
I
or cefazolin or www.medcalc.com/ endocarditis

.html.
I
or
not anaphylaxis, angioedema, REFERENCES
-
or ease. Eur J Pediatr.
-
PRO GNO SIS
Amer Heart J.
Bacterial endocarditis requires early detection and aggressive antibi-
otic therapy to decrease mortality. Overall mortality varies according Heart.
Pediatric Bacterial Endocarditis
FO LLO W-UP Heart.
in pediatric infective endocarditis. Pediatr Infect Dis J

-
ication levels monitored. -
sides in combination with a beta-lactam for the treatment of bacte-
JAntimicrob
Chemother.
as patients with endocarditis are at risk for another episode. SOR
PATIENT EDUCATIO N Circulation.

-
Circulation.
rate.
PART 7
ACUTE RHEUMATIC FEVER 269
45 ACUTE RHEUMATIC EPIDEMIO LO GY

FEVER
Ab b as H. Zaid i, MB, BS cases, with 282,000 new cases and 233,000 deaths each year. 1
US over the past few decades. Although the reasons for this decline
PATIENT STO RY are not entirely clear, a shift in the prevalence from circulating
rheumatologic to nonrheumatologic strains of GAS likely has
An 11-year-old girl was referred for evaluation of a heart murmur. played an important role. 2
She has right knee pain and swelling that was preceded by right ankle
pain and swelling. Three weeks prior to the presentation, she had a the US over the past three decades. 3,4
fever and sore throat. On exam, she has swelling and tenderness of
her right knee, a hyperdynamic precordium with a pansystolic mur-
mur heard best at the apex. She has an elevated Anti-streptolysin O ETIO LO GY AND PATHO PHYSIO LO GY
(ASO) titer. Her echocardiogram con rms severe mitral regurgita-
tion (Figure 45-1). She was diagnosed with acute rheumatic fever
and admitted to the hospital. She was treated with penicillin, aspirin, proposed as a mechanism for the development of the manifestations
and bed rest with signi cant clinical improvement. She was dis- observed in ARF.
charged from the hospital within a week and over the course of the
next few months, her mitral regurgitation improved. cells to respond to self.
INTRO DUCTIO N RISK FACTO RS

Acute rheumatic fever (ARF) is an in ammatory disease that affects
Risk factors for RF can be categorized as being:
susceptible children and adolescents, (most commonly aged 3 to
19 years). It is mediated by humoral and cellular autoimmune -
responses that occur as delayed sequelae of Streptococcus pyogenes tion, and poor access to health care.
(group A) (GAS) pharyngitis. The manifestations of ARF usually
manifest 2 to 4 weeks after the initial infection. genetic susceptibility.
SYNO NYMS
DIAGNO SIS
manifestation of ARF and is addressed in the following section.
CLINICAL FEATURES
According to revised Jones criteria, the diagnosis can be made
when two major criteria, or one major and two minor criteria are
present, along with evidence of streptococcal infection, that is, ele-
Major crite ria
which usually starts in the legs and involves large joints.
heart disease (Figure 45-1), pericarditis, or congestive heart

failure due to myocarditis.
Figure 45-2).
Figure 45-3).
movement of the extremities, which is involuntary and may be

FIGURE 45-1 Transthoracic e chocard iog ram (ap ical four-chamb e r vie w)
in an 11-ye ar-old with acute rhe umatic fe ve r and se ve re mitral re g urg ita- associated with facial grimacing. This can occur late in the disease
tion (arrow). (Use d with p e rmission from Athar M. Q ure shi, MD.) up to a few months from the onset of the infection.
PART 7
270 CHAPTER 45
FIGURE 45-4 First-d e g ree heart b lock with p rolonged PR interval (inte r-
val b etwee n arrows), which may b e p resent as a minor crite rion for acute
rheumatic fe ve r. (Used with p ermission from Athar M. Q ure shi, MD.)
A
Figure 45-4
carditis is a major nding.)
FIGURE 45-2 Painle ss sub cutane ous nod ule s of acute rhe umatic fe ve r
ove r the d orsal fore arm/e lb ow (A) and late ral foot (B) in a 3-ye ar-old g irl IMAGING
who p re se nte d with fe ve r, mig ratory arthritis, ne w-onse t mitral re g urg i-
tation, e le vate d e rythrocyte se d ime ntation rate and ve ry e le vate d anti-
stre p tolysin O tite r. (Use d with p e rmission from Blanca Gonzale z, MD)
Minor crite ria

cardiac involvement.
redness. (A diagnosis of polyarthritis eliminates arthralgia from the

criteria.)
latent period (7 to 10 days) and is usually not migratory in nature.

-
rate uid analysis and culture for organisms (not present in ARF).
MANAGEMENT
NO NPHARMACO LO GIC
-
mended. SO R
involves salt and water restriction, and upright posture.
FIGURE 45-3 Erythe ma marg inatum. This p hotose nsitive rash b e g ins
on the ce ntral are as of the b od y as macule s, and sp re ad s more d istally. MEDICATIO NS
The macule s cle ar out from the ce nte r to form ring s, which can some -
time s coale sce to form a se rp e ntine p atte rn on the b o d y. (Use d with
p e rmission from Cle ve land Clinic Hosp ital Photo File .) GAS carriage regardless of culture status. 7 SO R
PART 7
ACUTE RHEUMATIC FEVER 271
intramuscular injection of benzathine penicillin. 7 SO R FO LLO W-UP AND PATIENT EDUCATIO N
those with a positive throat culture should be treated with antibiot-

not treating acute streptococcal pharyngitis. After the diagnosis of
ics. SO R
ARF is made, patients should be counseled about the need for pre-
vention of acute streptococcal pharyngitis and the need for long term
relief of arthritis symptoms due to acute rheumatic fever. 8 This follow-up for rheumatic carditis.
results in the prompt relief of arthritis symptoms. SO R
PATIENT RESO URCES
treated with conventional therapy for heart failure. www.www.ncbi.nlm.nih.gov/ pubmedhealth/
- PMH0004388/ .
agement of rheumatic carditis. The role of corticosteroids and other PRO VIDER RESO URCES
anti-in ammatory agents in rheumatic carditis is uncertain. 9 SOR www.my.americanheart.org/ professional/ General/
- Rheumatic-Fever-and-Strep-Throat_UCM_423927
ci c treatment, although antihistamines may help to alleviate pruritus. _Article.jsp.
www.who.int/ cardiovascular_diseases/ resources/
be alleviated with valproic acid, phenobarbital, or valium. SO R trs923/ en.
SURGERY/ INTERVENTIO NAL REFERENCES
CARDIO LO GY TREATMENT
diseases. Lancet Infect Dis
is usually not needed in the acute phase, but may be needed for
chronic valvular heart disease. 10,11
Advances in Pediatrics
REFERRAL
is warranted for most cases of ARF. acute rheumatic feve in the intermountain area of the US. N Engl
J Med
PREVENTIO N AND SCREENING Pediatrics

371-374.
PRIMARY PREVENTIO N
-
sis of rheumatic fever: Jones criteria, updated 1992. Circulation.
key to primary prevention.
Circulation.
have a throat culture performed, and if GAS is isolated, should be
treated with antibiotics.
SECO NDARY PREVENTIO N treatment of acute Streptococcal pharyngitis: a scienti c statement
pharyngitis are at high risk for rheumatic heart disease or exacerba-

tion of existing rheumatic heart disease. 7
-
7
antibiotics to prevent streptococcal pharyngitis. Circulation
depends on whether or not cardiac involvement was present of acute rheumatic fever in children. Circulation
initially and whether there is active cardiac disease.
treatment for carditis in acute rheumatic fever. Cochrane Database
PRO GNO SIS of Systematic Reviews
BMJ
morbidity and mortality.
sequelae. with rheumatic mitral regurgitation. Circulation

PART 7
272 CHAPTER 46
4 6 CO MMO N 1
DYSRHYTHMIAS
Asif Pad iyath, MD
Pe te r Aziz, MD SYNO NYM
Three important dysrhythmias in the pediatric population include:
EPIDEMIO LO GY
WO LFF-PARKINSO N-WHITE ETIO LO GY AND PATHO PHYSIO LO GY

SYNDRO ME
PATIENT STO RY
Figure 46-2
Figure 46-1
INTRO DUCTIO N
FIGURE 46-1 ECG showing d e lta wave , wid e Q RS, and shorte ne d PR inte rval (Wolff-Parkinson-White ). (Use d with
p e rmission from Pe te r Aziz, MD.)
PART 7
CO MMO N DYSRHYTHMIAS 273
FIGURE 46-2 O rtho d romic re cip rocating tachycard ia (O RT) via a le ft late ral p athway. No te the narrow comp le x Q RS se e n in p atie nts d uring sup ra-
ve ntricular tachycard ia. (Use d with p e rmission from Pe te r Aziz, MD.)
RISK FACTO RS
DIAGNO SIS IMAGING
CLINICAL FEATURES
Figure 46-3
FIGURE 46-3 Atrial b rillation with rap id ve ntricular re sp onse in a p atie nt with WPW. ECG shows an irre g ularly irre g u-
lar wid e comp le x tachycard ia. This p he nome non is the cause of sud d e n card iac d e ath in WPW p atie nts. (Use d with
PART 7
274 CHAPTER 46
FO LLO W-UP
MANAGEMENT
PATIENT EDUCATIO N
PATIENT RESO URCES

http:// my.clevelandclinic.org/ heart/ disorders/
~
electric/ wpw.aspx
SO R
~
SO R
http:// www.hrsonline.org/ News/ Press-Releases/
REFERRAL 2012/ 05/ Management-Of-Asymptomatic-Patients-
With-Wolff-Parkinson-White# axzz2VWWD0EKU

LO NG Q T SYNDRO ME
PATIENT STO RY
PRO GNO SIS
Figure 46-4
FIGURE 46-4 ECG showing Q Tc p rolong ation (Q Tc=570ms). This p atie nt had the classic long Q T synd rome p re se ntation of
syncop e d uring swimming consiste nt with long Q T typ e 1. (Use d with p e rmission from Pe te r Aziz, MD.)
PART 7
SYNO NYMS
9
EPIDEMIO LO GY
8
MANAGEMENT
Figure 46-5
RISK FACTO RS SO R
11 SO R
12 SO R
REFERRAL
FIGURE 46-5 Rhythm strip showing torsad e d e p ointe s in an infant with long Q T synd rome . The rhythm d isturb ance sp ontane ously te rminate d in
this p atie nt. (Use d with p e rmission from Pe te r Aziz, MD.)
PART 7
276 CHAPTER 46

SO R
PRO GNO SIS
CO MPLETE HEART BLO CK
FO LLO W-UP PATIENT STO RY
PATIENT EDUCATIO N
Figure 46-6
INTRO DUCTIO N
PATIENT RESO URCES

http:// my.clevelandclinic.org/ heart/ disorders/
electric/ longqtsyndrome.aspx
FIGURE 46-6 ECG showing comp le te he art b lock. The ECG is notab le for b rad ycard ia, AV d issociation, and a wid e
comp le x ve ntricular e scap e rhythm. (Use d with p e rmissio n from Pe te r Aziz, MD.)
PART 7
MANAGEMENT
SYNO NYM
18 SOR
EPIDEMIIO LO GY
SO R
Figures 46-7 and

19 SO R
46-8
SO R
REFERRAL
RISK FACTO RS
21
DIAGNO SIS
DIFFERENTIAL DIAGNO SIS FIGURE 46-7 Che st rad iog rap h p ost-imp lantation of an e p icard ial,
d ual-chamb e r p ace make r. The che st rad iog rap h is sig ni cant for car-
d iome g aly. The p ace make r is imp lante d surg ically in the ab d ome n and
the p ace make r le ad s are suture d on the surface of the atrial and ve n-
tricular myo card ium. (Use d with p e rmission from Pe te r Aziz, MD.)
PART 7
278 CHAPTER 46
FIGURE 46-8 ECG afte r p acing of p atie nt in Fig ure 46-7 showing se q ue ntial atriove ntricular p acing d e note d b y the
larg e p acing sp ike s p rior to the P wave and the Q RS. This p atie nt has sinus nod e d ysfunctio n in ad d ition to comp le te
he art b lock. (Use d with p e rmission from Pe te r Aziz, MD.)
N Engl J Med
PRO GNO SIS
Circulation
22
FO LLO W-UP
Heart Rhythm
Journal of the
PATIENT EDUCATIO N American College of Cardiology
Heart
PATIENT RESO URCES
New England Journal of Medicine
http:// www.chop.edu/ service/ cardiac-center/ heart-
conditions/ heart-block.html
PRO VIDER RESO URCES Circulation

overview Journal of the American
College of Cardiology
REFERENCES
Circulation:
Arrhythmia and Electrophysiology
PART 7
New England Journal of Medicine
Europace
European
Journal of Cardio-Thoracic Surgery
Circulation J Intern Med
QJM
later? Circulation
Circulation
The Lancet
Pediatr Cardiol
Rheumatology
Acta Pædiatrica
nelopathies and cardiomyopathies: This document was developed as a

American Heart Journal
Europace
PART 7
280 CHAPTER 47
47 SYNDRO MES
ASSO CIATED WITH
HEART DISEASE
Asif Pad iyath, MD
Pe te r Aziz, MD
Infants and children with genetic syndromes frequently have associ-

ated cardiovascular abnormalities. It is important to recognize the
cardiovascular anomalies associated with these genetic syndromes, as
they account for signi cant morbidity and mortality. In this chapter,
important genetic syndromes that are associated with cardiovascular
manifestations are presented successively and include:
FIGURE 47-1 Ap ical four chamb e r vie w of a comp le te atrio-ve ntricular
canal d e fe ct in an infant on e chocard iog ram. Note the atrial and ve n-
tricular se p tal d e fe cts (re d and b lue arrows re sp e ctive ly). The common
atriove ntricular valve (g re e n arrows) sits in a horizontal p lane along the
atriove ntricular g roove which is characte ristic of this d e fe ct. (Use d with
EPIDEMIO LO GY
For further clinical information on these genetic syndromes, please

DO WN SYNDRO ME
PATIENT STO RY syndrome compared to that of general population.

-
to premature labor. A prior fetal echocardiogram showed an atrio- tetralogy of Fallot and patent ductus arteriosus.
amniocentesis and chromosomal testing during pregnancy. Post-natal

examination of the infant reveals simian creases, macroglossia and RISK FACTO RS
and the diagnosis of AV canal defect is con rmed on echocardiogram
(Figure 47-1
DIAGNO SIS
INTRO DUCTIO N
with rst trimester screening lab tests and ultrasound appearance of
-
evaluated for the presence of congenital heart disease. centesis.
accomplished by fetal echocardiography in the second trimester.

SYNO NYMS
pulmonary vascular resistance decreases.

PART 7
SYNDRO MES ASSO CIATED WITH HEART DISEASE 281
FIGURE 47-2 Sup e rior axis (ne g ative Q RS in aVF), characte ristic of common atriove ntricular canal d e fe ct on e le ctrocard iog ram. The p atie nt also
has a rig ht b und le b ranch b lock (RSR’ in V1 and wid e Q RS) as the re sult of surg ical closure of the canal typ e ve ntricular se p tal d e fe ct. (Use d with
IMAGING PATIENT RESO URCES

www.ndss.org/ Resources/ Health-Care/ Associated-
associated with the speci c cardiac defects (Figure 47-2). Conditions/ The-Heart–Down-Syndrome/ .
MANAGEMENT http:// www.ndss.org/ Resources/ Health-Care/

Associated-Conditions/ The-Heart--Down-
Syndrome/ .
REFERRAL
ultrasounds and appropriate referral to a fetal cardiologist for fur- TURNER SYNDRO ME
ther evaluation with a fetal echocardiogram is commonplace.
PATIENT STO RY
A 16-year-old female is seen by her primary care physician for pri-
ultrasounds in the second trimester.
PRO GNO SIS
has a continuous murmur audible almost all over the rib cage. A diag-
FO LLO W-UP nosis of coarctation of the aorta is made via echocardiography and
Figure 47-3). Chromosomal testing con rms the
follow-up by a pediatric cardiologist is required. coarctation without complications.

PART 7
282 CHAPTER 47
to hypoplastic left heart syndrome, although the latter is

quite rare.
DIAGNO SIS
echocardiographic evaluation for cardiac defects should be performed.
of the aorta can result in left sided heart failure.
become apparent during evaluation of “primary” hypertension.
will have clinical signs of hypertension, lower blood pressures in
murmur in the left interscapular region.
intercostal arteries resulting in continuous murmurs.
arteries.
FIGURE 47-3 Discre te coarctation of the aorta just d istal to the le ft
sub clavian arte ry on CT ang iog ram in a p atie nt with Turne r synd rome . IMAGING
(Use d with p e rmission from Ke nne th Zahka, MD.)
children.
INTRO DUCTIO N -
demonstrate the level of the obstruction, especially in older patients.
coarctation of the aorta.

SYNO NYMS
MANAGEMENT
EPIDEMIO LO GY coarctation. SO R
2
patient groups. SO R
liveborn female infants
REFERRAL
cardiovascular anomalies.
performed by a pediatric cardiologist.

PRO GNO SIS
the aorta, although bicuspid aortic valve and aortic stenosis are also
common. repair.
heart obstructive lesions ranging from bicuspid aortic valve high static (isometric) activities. 6 SO R
PART 7
-
tion repair, as hypertension may develop.
FO LLO W-UP
for development of complications such as hypertension.
PATIENT EDUCATIO N
involving a geneticist, pediatric endocrinologist and general pedia-

trician should be planned and patients should be provided with
anticipatory information regarding prognosis and follow-up.
PATIENT RESO URCES

http:// my.clevelandclinic.org/ childrens-hospital/
health-info/ diseases-conditions/ endocrinology/ FIGURE 47-4 Profound card iome g aly and rig ht sid e d aortic arch in a
hic-turner-syndrome.aspx. ne wb orn infant with Truncus arte riosus and DiGe o rg e synd rome . (Use d
with p e rmission from Camille Sab e lla, MD.)

http:// pediatrics.aappublications.org/ content/ 123/
5/ 1423.full. EPIDEMIO LO GY
DIGEO RGE SYNDRO ME

affected patients.
PATIENT STO RY
Figure 47-4) is transferred to the neonatal
of life, the girl has a generalized seizure and is found to have serum migration of neural crest cells.
is suspected based on the cardiac lesion and the hypocalcemia, and

-
trum of conotruncal malformations.
hospitalization.
RISK FACTO RS
INTRO DUCTIO N
syndrome.
long arm of chromosome 22 (22q11.2).
DIAGNO SIS
SYNO NYMS
truncus arteriosus, tetralogy of Fallot, and interrupted aortic arch.
hypoplasia.
PART 7
284 CHAPTER 47
WILLIAMS SYNDRO ME
include vascular ring anomaly, transposition of great arteries with
-
nary stenosis, hypoplastic left heart syndrome, and patent ductus PATIENT STO RY
arteriosus.
cardiologist because of asystolic murmur heard during a routine
-
DIFFERENTIAL DIAGNO SIS -
and wide mouth (Figure 47-5

muscle and can also be associated with cardiac anomalies.
which radiates to the carotids. An echocardiogram revealed supra-
MANAGEMENT -
pediatric cardiologist.
the speci c heart lesion.
REFERRAL
-
INTRO DUCTIO N
uation by a pediatric cardiologist.
supravalvular aortic stenosis, idiopathic hypercalcemia, and a charac-
PREVENTIO N AND SCREENING teristic neurodevelopmental and behavioral pro le.
PRO GNO SIS
varies widely and depends on the severity of the defect.
FO LLO W-UP
the frequency determined based on the severity of the lesion.
PATIENT EDUCATIO N
about possible recurrence with future pregnancies.
PATIENT RESO URCES

http:// ghr.nlm.nih.gov/ condition/ 22q112-deletion-
syndrome.
FIGURE 47-5 Typ ical facie s of a p atie nt with Williams synd rome . Note
www.sciencedirect.com/ science/ the p re se nce of a short up turne d nose , at nasal b rid g e , long p hiltrum,
article/ pii/ S0022347611002447. and wide mouth. (Use d with p e rmission from Cle ve land Clinic Child re n’s
Hosp ital p hoto le .)
PART 7
-
SYNO NYMS ence of co-morbid cardiovascular problems.
REFERRAL
EPIDEMIO LO GY follow-up with a pediatric cardiologist.
endocrinologist.
ETIO LO GY AND PATHO PHYSIO LO GY PREVENTIO N AND SCREENING
11
-
sion from renal artery involvement.
this syndrome. performed.
DIAGNO SIS
PRO GNO SIS
-
rmatory diagnosis.
stature, mild to moderate mental retardation, facial features as 16 SO R

described in the case, hypercalcemia, developmental delay, learn-
ing disabilities, excessive social personality, and interest and enthu-
siasm for music.
large sized arteries, most commonly involving the ascending aorta

(supravalvular aortic stenosis), or pulmonary arteries. FO LLO W-UP
in young patients can occur. cardiologist.

- -
ondary to renal artery involvement. gist will depend on the presence and extent of renal and metabolic
problems.
syndrome.
PATIENT EDUCATIO N
- of having renal artery involvement in future.
discussed with the family.

have the clinical, genetic, cardiovascular, and metabolic manifesta-
PATIENT RESO URCES

MANAGEMENT www.williams-syndrome.org/ what-is-williamssyn-
drome
http:// www.williams-syndrome.org/ what-is-wil-
depends on the extent of supravalvular aortic stenosis and other liams-syndrome.
cardiac manifestations.
PART 7
286 CHAPTER 47

www.orpha.net/ consor/ cgi-bin/ OC_Exp.php?Lng=
GB&Expert=904.0.
MARFAN SYNDRO ME
PATIENT STO RY
A 16-year-old previously healthy boy presenting for a sports physical

to his pediatrician is found to have a mid to late systolic murmur in
(Figures 47-6 and 47-7
was found to have a mutation in the brillin-1 gene and dilatation of

the aorta.
INTRO DUCTIO N A
connective tissue disorder and is associated with serious cardiovascu-

lar manifestations.
EPIDEMIO LO GY
FIGURE 47-7 Hyp e rmob ility of the ankle (A) and wrist (B) joints in a
p atie nt with Marfan synd rome . (Use d with p e rmission from Cle ve land
Clinic Child re n’s Hosp ital p hoto le .)
FIGURE 47-6 Arachnod actyly (long , sle nd e r ng e rs) in a p atie nt with
Marfan synd rome . (Use d with p e rmission from Cle ve land Clinic
Child re n’s Hosp ital p hoto le .)
PART 7
ETIO LO GY AND PATHO PHYSIO LO GY ~
peripheral pulmonary stenosis or any other obvious causes and

cardiovascular manifestations. calci cation of mitral valve annulus.
-
tein brillin-1 have been identi ed as the genetic defect causing
RISK FACTO RS
21
and mitral regurgitation22
DIAGNO SIS
MANAGEMENT
- SO R
tal, pulmonary system and family history.
aortic and mitral valves and aortic roots. SO R
can improve the contractile function of the aorta. SO R

~ Figure 47-8) with or without
regurgitation.
replacement of the valve. 26 SO R
of dissection (applies to adults only) may require surgical repair as

well. SO R
REFERRAL
managed using a multidisciplinary approach involving a pediatri-

cian, pediatric cardiologist, pediatric ophthalmologist, geneticists,
and pediatric surgeon.
suspected.
PRO GNO SIS
FIGURE 47-8 Sag ittal p lane MRI imag e of the aorta (arrow) in a
p atie nt with Marfan synd rome . The aorta is d ilate d at the le ve l of the
sinuse s of valsalva while the re maind e r of the aorta is normal in size . cardiovascular compromise is the most common cause of patient
(Use d with p e rmission from Pe te r Aziz, MD.) death from sudden death in a previously undiagnosed patient.
PART 7
288 CHAPTER 47
FO LLO W-UP -
patients with 22q11.2 deletion syndrome. The Journal of pediatrics.

closely follow-up the status of aortic root to determine need for a
surgical repair.
williams syndrome. J Child Neurol
PATIENT EDUCATIO N
Am J Hum Genet
cardiologist.
PATIENT RESO URCES cerebral arteriopathy in williams syndrome. J Pediatr

http:// my.clevelandclinic.org/ heart/ disorders/ aorta_
marfan/ default.aspx.
Am J Med Genet A
http:// circ.ahajournals.org/ content/ 121/ 13/ e266.full.
williams syndrome. Am J Med Genet
http:// pediatrics.
Abnormalities of cardiac repolarization in williams syndrome.
aappublications.org/ content/ 132/ 4/ e1059.abstract.
The American journal of cardiology
REFERENCES lesions in the williams-beuren syndrome. American Journal of

Medical Genetics
22 years. Archives of disease in childhood diagnosis and management. Curr Probl Cardiol
-
agement in turner syndrome: From infancy to adult transfer. Nature
Archives of disease in childhood
- Am J Med
nates and infants: A thirty-year experience. The Annals of thoracic Genet
surgery
-
plasty and angioplasty of congenital anomalies registry. The Ameri- J Med Genet.
can journal of cardiology
guideline of the turner syndrome study group. The Journal of

clinical endocrinology and metabolism
Journal of the American College of Cardiology tgf-beta receptor. N Engl J Med
Dev Disabil Res Rev

ehlers-danlos syndrome. Genet Med
anomaly with renal agenesis in infants of mothers with diabetes.

Am J Med Genet large artery stiffness and aortic root diameter in patients with
PART 7
marfan syndrome: A randomized controlled trial. JAMA : the journal

of the American Medical Association
The
term effects of losartan on structure and function of the thoracic Annals of thoracic surgery
aorta in a mouse model of marfan syndrome. British journal of
pharmacology
rupture of abdominal aortic aneurysms. British Journal of Surgery.
syndrome. N Engl J Med.

PART 8
THE LUNGS
St re ng t h o f
(SO R) De nit io n

PART 8
292 CHAPTER 48
THE LUNGS
48 BRO NCHIO LITIS SYNO NYMS

Rachna May, MD, FAAP
Respiratory Syncytial Virus (RSV) or lower respiratory tract infection
Julie Ce rnane c, MD, FAAP
(LRTI).
PATIENT STO RY EPIDEMIO LO GY
A 5-month-old full-term female infant presents to your of ce with 3

days of fever and cough. On examination, you note a frequent wet than 1 year of age. 1
cough and appreciate bilateral wheezes. Pulse oximetry reveals a nor-
mal oxygen saturation. You reassure the mom that her daughter has half a billion dollars in health care expenditures. 2
bronchiolitis and needs supportive care only (Figure 48-1). She
agrees to follow up with you in 1 to 2 days.
INTRO DUCTIO N
Bronchiolitis is in ammation of the bronchioles typically caused by a

viral illness that frequently affects young children. 1 adenovirus, and human metapneumovirus.
FIGURE 48-1 Bronchiolitis illustration with cap tions e mb e d d e d . (Re p rinte d with p e rmission, Cle ve land Clinic Ce nte r for Me d ical Art &
Photog rap hy © 2012. All Rig hts Re se rve d .)
PART 8
BRO NCHIO LITIS 293
THE LUNGS
-
chioles (Figure 48-1).
RISK FACTO RS
age of 2 years. 1
siblings, and smoke are at higher risk for developing bronchiolitis. 3
~ Prematurity of less than 35 weeks gestation.

~ Chronic lung disease or congenital airway malformations.
~ Cyanotic congenital heart disease.
~ Severe neuromuscular disease.
~ Immunocompromised state. 4
DIAGNO SIS
FIGURE 48-2 Normal che st x-ray of an 8-month old infant. (Use d with
p e rmission from Rachna May, MD.)
CLINICAL FEATURES
MANAGEMENT
wheezing, and signs of increased work of breathing such as use of
accessory muscles and/ or nasal aring. NO NPHARMACO LO GIC
-
citation as indicated by the patient’s clinical status is the mainstay of
treatment.
-
logic surveillance and research but the results do not change the
management of the disease.
IMAGING
found to be normal, routine chest radiography is not recommended

for patients with bronchiolitis (Figure 48-2).
or central bronchial thickening can be seen in some patients

(Figure 48-3 to 48-5).
severe course or does not improve as expected based on the natural

history of disease.
-
senting with wheezing and airway hyperreactivity, and may be
FIGURE 48-3 Hyp e rin ation se cond ary to air trap p ing and mild ate l-
e ctasis se e n in some p atie nts with b ronchiolitis. (Use d with p e rmission
Pneumonia). from Rachna May, MD.)
PART 8
294 CHAPTER 48
THE LUNGS
infections that cause bronchiolitis. 1
infants who qualify based on risk factors for severe RSV infection,
including but not limited to prematurity, chronic lung disease, and
cyanotic congenital heart disease. 1 Palivizumab has been shown to
reduce the risk of hospitalization in infants who are at risk for
severe RSV infection. 5–7 SO R
PRO GNO SIS
FIGURE 48-4 Incre ase d p e rihilar marking s, a non-sp e ci c sig n ofte n FO LLO W-UP
se e n with viral infe ctions. (Use d with p e rmission from Rachna May, MD.)
follow-up with their primary care pediatrician.

in the setting of severe tachypnea.
MEDICATIO NS disease or reactive airway disease will bene t from follow-up with
the appropriate subspecialist.
bronchiolitis. However, it is reasonable to attempt a single dose to
assess the patient’s response, after which the decision can be made
PATIENT EDUCATIO N
to continue the therapy. Studies suggest that up to 25 percent of
patients may bene t from bronchodilator treatment. 1 SO R
-
ents should be counseled on reasons to seek further emergency medi-
for treatment of bronchiolitis. 1 SO R cal care, including tachypnea, retractions, cyanosis, and dehydration.
2
REFERENCES
REFERRAL
-
of stay of approximately 3 days may bene t from a pulmonology chiolitis. Pediatrics
consultation for further evaluation of underlying reactive airway
disease or structural abnormality.
on Hypertonic Saline. Contemporary Pediatrics
of older siblings, and family history of asthma increase risk of

bronchiolitis. Am J Dis Child
-
tory syncytial virus infection. The Pediatric Infectious Disease Journal.
-
tory syncytial virus monoclonal antibody, reduces hospitalization
from respiratory syncytial virus infection in highrisk infants.
Pediatrics.
-
laxis reduces hospitalization due to respiratory syncytial virus in
young children with hemodynamically signi cant congenital heart
disease. J Pediatr.
FIGURE 48-5 Ce ntral b ronchial thicke ning , a nonsp e ci c sig n ofte n

se e n with viral infe ctions. (Use d with p e rmission from Rachna May, MD.) usage. Pediatr Infect Dis J.
PART 8
ASTHMA AND PULMO NARY FUNCTIO N TESTING 295
THE LUNGS
49 ASTHMA AND
PULMO NARY
FUNCTIO N TESTING
Mind y A. Smith, MD, MS
PATIENT STO RY
A 7-year-old boy with a history of atopic dermatitis as an infant, pres-

ents with an episode of continued cough and wheezing 2 weeks follow-
ing a recent cold. The cough is keeping the family up at night. This is
his third episode this winter and has gone on longer than the others.
He has otherwise been quite healthy. He appears comfortable but is
coughing intermittently. His examination is signi cant for mild inspira-
tory and expiratory wheezing but no crackles. His mother mentions
that she had asthma as a child and is worried that this might be asthma.
The pediatrician prescribes an inhaled bronchodilator and refers the
child for spirometry before and after an inhaled bronchodilator.
The spirometry results in Table 49-1 show a mild to moderate
baseline defect with marked improvement post bronchodilator. The
ow volume loops provide graphical demonstration of the same data
(Figure 49-1). This con rms the diagnosis of asthma and an asthma
treatment plan is developed.
Interpretation: mild to moderate baseline defect with marked
improvement post bronchodilator.
FIGURE 49-1 Pulmonary Function Te sts (PFTs) showing ow volume
loop in a 7-ye ar-old b oy with ne wly d iag nose d asthma. He has a
mild to mod e rate b ase line d e fe ct with marke d imp rove me nt p ost
INTRO DUCTIO N b ronchod ilator. Se e Tab le 49-1 for sp e ci c numb e rs.
Blue—pre-bronchodilator. Green—post-bronchod ilator. Red—p red icted.
Asthma is a chronic in ammatory airway disorder with variable air-
ow obstruction and bronchial hyperresponsiveness that is at least
Using
partially reversible, spontaneously or with treatment (e.g., beta-2
-
agonist treatment). Patients with asthma have recurrent episodes of
ple database, the estimated overall annual number of in-hospital
wheezing, breathlessness, chest tightness, and cough (particularly at 2
Most patients died as
night or in the early morning).
=
asthma-related deaths per year among children.
EPIDEMIO LO GY -
Rates of Many uninsured people with

asthma are increasing; the greatest rise in rates is among black
afford their prescription drugs. In one retrospective study based
TABLE 49-1 Pulmonary Function Te sts: 7-ye ar-old b oy. We ig ht 30.7 Kg ; He ig ht 131 cm (se e Tab le 49-2 for ke y to ab b re viations)
Pre d ict e d Pre -b ro ncho d ilat o r % Pre d ict e d Po st -b ro ncho d ilat o r % Pre d ict e d
FVC (L) 1.70 1.80 105.6 1.92 112.9
FEV1 (L) 1.45 1.17 81.0 1.67 115.5
FEV % FVC (%) 88.00 65.36 74.5 87.11 99.2
PEF (L/s) 3.49 2.43 69.6 3.76 107.9
FEF 25/75 (L/s) 1.67 0.76 45.5 1.88 112.1
PART 8
296 CHAPTER 49
THE LUNGS
Pulmonary Function Te sts: 9-ye ar-old b oy. We ig ht 46 Kg ; He ig ht 141 cm (se e Tab le 49-2 for ke y to ab b re viations)
Pre d ict e d Pre -b ro ncho d ilat o r % Pre d ict e d Po st -b ro ncho d ilat o r % Pre d ict e d
FVC (L) 2.32 1.58 67.9 2.02 87.0
FEV1 (L) 2.01 0.97 48.3 1.44 71.5
FEV % FVC (%) 87.41 61.53 70.4 71.11 81.4
PEF (L/s) 5.07 2.62 51.8 4.23 83.4
FEF 25/75 (L/s) 2.33 0.52 22.5 0.93 39.8
FIGURE 49-2 Pulmonary Function Te sts (PFTs) showing ow volume

loop in a 9-ye ar-old b oy with ong oing asthma. He has a mod e rate
b ase line ob struction d e fe ct with marke d imp rove me nt in the FEV1
and FEF 25/75 p ost-b ronchod ilator b ut not to p re d icte d le ve ls.
Blue —p re -b roncho d ilator. Gre e n—p ost-b ronchod ilato r. Re d —p re d icte d .
on insurance claims for children with asthma who initiated asthma parain uenza) are associated with asthma development. In one pro-
=
asthma diagnosis.
In this study, asthma- -
ponent, although the genetics involved remain complex. The gene
of asthma as metalloproteinases appear to effect airway remodeling. 6

A recent nested case-control study found that genetic variation in
-
grounds to asthma. 7
=
had a signi cant air ow de cit as neonates. It was estimated that
airborne allergens (e.g., house dust-mite, cockroach antigens) and asthma was present at birth and the remainder developed with clin-
childhood respiratory infections (e.g., respiratory syncytial virus, ical disease.
PART 8
THE LUNGS
TABLE 49-2 Pulmonary Function Te sts (Ke y to Ab b re viations)

RISK FACTO RS
FVC (L) Force d vital cap acity
-
FEV1(L) Force d vital cap acity at one se cond 9
FEV1/FVC % FEV1 d ivid e d b y FVC

FEF 25–75% Force d e xp iratory ow b e twe e n 25%
(L/se c) and 75% of cap acity—same as
maximal mid e xp iratory ow
(MMFR)
FEF max (L/se c) Force d e xp iratory ow maximum
FEF 25% (L/se c) Forced expiratory ow rate when 25%
of the FVC has been exhaled (slope
of FVC curve at 25% exhaled)
FEF 50% (L/se c) Force d e xp iratory ow rate whe n 50%
of the FVC has b e e n e xhale d
a month use versus no use, respectively). -
FEF 75% (L/se c) Force d e xp iratory ow rate was 75% nism is through acetaminophen reducing the immune response and
of the FVC has b e e n e xhale d prolonging rhinovirus infection.
FITC (L) Force d insp iratory vital cap acity
FIF 50% (L/se c) Force d insp iratory ow at 50%
cap acity
value in the child’s home in infancy.
SVC (L) Slow vital cap acity
TLC (L) Total lung cap acity
RV (L) Re sid ual volume viewing of >
RV/TLC Re sid ual volume d ivid e d b y total lung
cap acity bronchiolitis, risk factors for physician-diagnosed asthma by age
TGV (L) Thoracic g as volume
Raw Airway re sistance
ERV (L) Exp iratory re se rve volume
IC (L) Insp iratory cap acity
DLCO Diffusing cap acity of lung (using car-
b on monoxid e me asuring )
VA (L) Alve olar volume
recent exacerbation history was the strongest predictor of future
DL/VA Diffusing cap acity d ivid e d b y alve olar asthma exacerbations. High concentrations of pollen also increase the
volume
DIAGNO SIS
combinations of mucosal swelling, mucous production, constric-
tion of bronchiolar smooth muscles and neutrophils (the latter, par- The diagnosis of asthma is made on clinical suspicion (presence of
ticularly important in smokers or those with occupational asthma). symptoms of recurrent and partially reversible air ow obstruction
The smaller airways of children make them particularly susceptible. and airway hyperresponsiveness) and con rmed with spirometry.
Alternative diagnoses should be excluded.
remodeling (thickening of the sub-basement membrane, subepithe-
lial brosis and vascular proliferation and dilation), along with CLINICAL FEATURES
mucous plugging complicate the disease. Asthma’s most common symptoms are recurrent wheezing, dif culty
breathing, chest tightness, and cough. An absence of wheezing or
normal physical exam does not exclude asthma. In fact, up to
PART 8
298 CHAPTER 49
THE LUNGS
even though abnormalities are seen on pulmonary function testing.

As part of the diagnosis of asthma, ask about the following:
occur or worsen at night and during exercise, viral infection, expo-

sure to inhalant allergens or irritants (e.g., tobacco smoke, wood
smoke, or airborne chemicals), changes in weather, strong emotional
expression (laughing hard or crying), menstrual cycle, and stress.
and impact on patient and family. The preschool-aged asthmatic

population tends to be characterized as exacerbation prone with
relatively limited impairment while older children and adolescents
have more impairment-dominant disease.
Findings on physical exam may include:
-
Additional ndings may include wheez-

FIGURE 49-4 Te n-ye ar-old g irl with p ityriasis alb a, atop ic d e rmatitis,
ing, prolonged phase of forced exhalation, use of accessory respira- and asthma und e r control. (Use d with p e rmission from Richard P.
tory muscles, appearance of hunched shoulders, and chest defor- Usatine , MD.)
result in no audible wheezing. the coexistence of all three conditions at one time (Figure 49-3) is
- pityriasis alba, a chronic skin disorder characterized by patches of

nitis and atopic dermatitis (Figure 49-3). The “atopic triad” with lighter skin mainly on the face (Figure 49-4 -
dren with physician-con rmed atopic dermatitis
=
rhinitis on a survey; similarly in a population study in Taiwan using
with atopic dermatitis, about half had a concomitant diagnosis of
manifestations beginning typically with atopic dermatitis in infancy
attack that is not responsive to standard treatment) may include:

>
(respiratory rate >
>
age to determine airway obstruction that is at least partially reversible

(Figures 49-1, 49-2, 49-5, and 49-6). SO R The British Thoracic
obstruction in response to an inhaled bronchodilator.

FIGURE 49-3 Two-ye ar-old b oy with the “atop ic triad ” showing skin
manife stations of atop ic d e rmatitis. (Use d with p e rmission from Richard -
P. Usatine , MD.) tom patterns, presence of risk factors, and therapeutic responses.
PART 8
THE LUNGS
Ins pira tory

Re s e rve
IRV Volume
Ins pira tory
Ca pa city (IRV)
VC (IC) Vita l
Ca pa city Tida l Tota l Lung
(VC) Volume Ca pa city
TV
(TV) (TLC)
Expira tory
Re s e rve
ERV Volume Functiona l
FRC (ERV) Re s idua l
Ca pa city
Re s idua l Re s idua l (FRC)
RV Volume Volume
(RV) (RV)
FIGURE 49-5 Grap h of lung volume s showing the re lationship of tid al volume to vital cap acity and othe r imp ortant lung volume s.
Assess severity: ~
~ -
sone burst plus hospitalization).
up and adults: intermittent, persistent-mild, persistent-moderate,
and persistent-severe.
< -
tion. A value of >=
both impairment and risk. 20 discharge from the emergency care setting.
- the step of care required for control (i.e., amount of medication;

see the following list).
Additional tests that may be useful include:
scored and summed for a nal score of up to 20 points for most
severe; scores might be useful for determining treatment and mon-
itoring response to therapy: or vocal cord dysfunction is considered.
~
exercise challenge) if spirometry is normal or near-normal and

~
asthma is still suspected; a negative test is helpful in ruling out
asthma.
~ > <
cyanosis, rapid or respiratory rate).
establishing a diagnosis of asthma.

study, the risk of severe wheeze was increased in infants having
eosinophilic airway in ammation, has also been used to detect

future uncontrolled asthma in patients on corticosteroids. 22 In addi-
shown to increase before moderate (but not severe) exacerbations

in children with asthma.
IMAGING
FIGURE 49-6 Boy having PFTs me asure d . Note the g ood se al around
the mouth and the scre e n with cand le s to b e b lown out for motiva- -
tional p urp ose s. (Use d with p e rmission from John Carl, MD.) eases (e.g., pneumonia) or identifying comorbidity (e.g., heart failure).
PART 8
300 CHAPTER 49
THE LUNGS
FIGURE 49-7 Acute asthma e xace rb ation with incre ase d lung volume s on che st x-ray. The late ral p roje ction re ve als
e nlarg e me nt of the re troste rnal cle ar sp ace (arrow). (Use d with p e rmission from Carlos Santiag o Re stre p o, MD.)
patients with asthma). Hyperin ation is manifested by the following: (Figure 49-8).
Figure 49-7).

Figure 49-8).
The differential diagnosis of an infant or child with wheezing includes:
(Figure 49-7).
imaging helps differentiate.
Figure 49-7).
-
function, tracheal stenosis, enlarged lymph node or tumor, infec-
asthma (only cough) occurs especially in young children.

-
nary artery disease, and cardiomyopathy can cause exertional dys-
pnea; electrocardiography and echocardiography can help distin-
guish these causes.
MANAGEMENT
provision of education, control of environmental factors and comor-

bid conditions, and use of medications. The goals of asthma therapy
are twofold:
FIGURE 49-8 Acute asthma e xace rb ation in a young man. Frontal -
che st rad iog rap h d e monstrate s incre ase d lung volume s and ill-d e ne d quent (<= twice weekly) use of rescue inhaler, maintain near nor-
op acity in the rig ht infrahilar re g ion consiste nt with mid d le lob e se g -
me ntal ate le ctasis (arrow). (Use d with p e rmission from Carlos Santiag o mal pulmonary function, maintain normal activity levels, meet
Re stre p o, MD.) patient and family expectations, and satisfaction with care.
PART 8
THE LUNGS
for emergency or hospital care, prevent loss of lung function (for

children, prevent reduced lung growth), and provide optimal phar-
macotherapy while minimizing side effects and adverse effects.
In the future, it may be possible to better tailor therapy to asthma
phenotype, based on a child’s clinical signs and use of health care
nonatopic severe, and severe atopic. In this study conducted during

=
low prevalence respiratory symptoms or allergy followed by a group
NO NPHARMACO LO GIC FIGURE 49-9 Dust mite s und e r the microscop e . Dust mite s are a com-
mon alle rg e n for p atie nts who suffe r from asthma and alle rg ic rhinitis.
Environme ntal control to minimize d ust mite e xp osure can he lp control
asthma for some ind ivid uals. (Use d with p e rmission from Richard P.
group randomized to exercise showed signi cant improvements in Usatine , MD.)
physical limitations, frequency of symptoms, health-related quality
of life, number of asthma-symptom-free days, and anxiety and -
depression levels over the control group (education and breathing prehensive individual programs may reduce symptom days. SOR
~ Many people who have asthma are allergic to dust mites (Figure
exercises only). 26
49-9). Two relatively easy interventions to decrease dust mite
exposure are: encase pillows and mattresses in special dust-mite
proof covers and wash the sheets and blankets on the bed each
-
week in hot water.
~
parent-reported symptoms. 27
children, greater adherence to a Mediterranean-type diet was asso- MEDICATIO NS

ciated with a lower prevalence of asthma symptoms.
To determine appropriate medication management, assess severity
SO R Pediatric asthma education was based on symptoms, medication usage, exacerbations, and lung func-
shown in a meta-analysis to reduce mean number of hospitalizations
- usually assessed through symptoms, night-time awakenings, interfer-
gency department visit for asthma;29 there was no in uence of edu- ence with normal activity, and lung function; the latter if over age
cation on the odds of hospitalization or mean number of urgent -
trolled, or very poorly controlled with steps of care associated with
-
with written asthma action plans and physician review. erence to facilitate these assessments and include treatment protocols
~
by age group divided into 6 steps of care as described in the following:
associated with more positive attitudes at 6 months, greater
improvements in quality of life, and greater self-ef cacy to Step 1: For all aged patients with intermittent asthma, an inhaled
SO R
resist smoking and knowledge of asthma self-management.
~ In another study, a school-based program for primarily minority Metered dose inhalers with spacers are at least as effective (with
race high school students resulted in greater con dence in manag- fewer side effects) as nebulized treatment for most patients.
ing asthma, more preventive steps taken, greater use of controller Step 2:
medication and written treatment plans, and improved control long-term control therapy for all ages with persistent asthma. SO R
(e.g., fewer night awakenings, days with activity limitation, -
school absences); in addition, there were fewer asthma acute care
Authors of a meta-analysis -
of school-based asthma education programs, however, found con- mil, or theophylline
sistent results demonstrating improved asthma knowledge, self- ~ SOR
ef cacy, and self-management behaviors but fewer studies show- ~
=
PART 8
302 CHAPTER 49
THE LUNGS
respiratory tract illness) was as effective as a daily low-dose
to budesonide. -
low-up; using these interventions improves rates of smoking cessa-
Step 3:
tion by up to twofold. SO R
allergy immunotherapy. SO R
options. SO R speci c immunotherapy for patients with positive skin tests
- resulted in a reduction in need for increased medications (number
ophylline requires monitoring serum concentration levels. Zileuton needed to treat =
is less desirable due to limited supporting data and need to monitor found immunotherapy reduced exacervations.
- -
ni cant bene t.
but without gastrointestinal re ux symptoms, the addition of a lan-
for adolescents and adults, but a trend toward increased risks of soprazole (versus placebo) resulted in no improvement in symp-
exacerbation and hospitalization among children. toms or lung function but increased adverse events.
~
For patients with an exacerbation
oral corticosteroids are used for home management of patients with a
function and >2 days per week of impairment; -
>=70 percent pre-
bination may not reduce exacerbations but appears to improve
Although serious asthma-related events
(asthma-related deaths, intubations, and hospitalizations) attribut-
oral steroids for exacerbations.
short course of oral steroids was effective in reducing the number of
analysis there was no statistically signi cant difference in serious
an apparent increase in side effects.
~ -
moderate persistent asthma, although medium dose steroids pro- SO R
- the addition of inhaled ipratropium bromide may reduce the need

SO R
any other outcome (e.g., symptom scores).

Step 4: For children with poorly controlled asthma, combination < -
-
tation with an asthma specialist. Alternatives are combination
continuously as needed, oral corticosteroids, adjunctive treatment
children). >
after treatment begins.
Step 5:
Step 6: -
<
=
corticosteroids, and adjunctive therapies.
early administration of systemic corticosteroids reduced the odds of
-
2 saturation above
− − 90 percent. SO R
nebulization if severe exacerbation and unresponsive to treatment

after initial assessments.
who have allergies.
=
reduced symptom days and the proportion of subjects who had one <
hospitalization.
PART 8
THE LUNGS
to initial treatments may require intubation and mechanical venti- The RR of preterm delivery and
preterm labor became nonsigni cant by active asthma manage-
failure. ment. Pregnancy does not appear to increase asthma severity,
- provided women continue to use their prescribed medications.
dence and may delay effective treatment: drinking large volumes of
liquids; breathing warm, moist air; using nonprescription products, include bronchiolitis or pneumonia during infancy, maternal
such as antihistamines or cold remedies, and pursed-lip and other eczema, paternal history of hay fever, asthma symptoms ≥
forms of breathing. year, more than four scheduled physician visits for asthma in the
methylxanthines, antibiotics (except as needed for comorbid condi- -
tions), aggressive hydration, chest physical therapy, mucolytics, or matory medications, and one or more courses of oral steroids) in
the prior year.
use of medications and health care services, and history has been
REFERRAL demonstrated to be helpful for identifying children at high or low-
risk for asthma exacerbations.
atypical, there are problems in assessing other diagnoses, or if
additional specialized testing is needed. a patient at higher risk of asthma-related death; these patients should
- be advised to seek medical care early during an exacerbation:
culties achieving or maintaining control of asthma, if the patient ~
required > for asthma).

an exacerbation requiring hospitalization, or if immunotherapy or ~ Two or more hospitalizations or >
omalizumab is considered. ~ Use of >
~ -
ening asthma.
~
FO LLO W-UP
=
occupational exposures, and exposure to indoor air pollution may
be preventive. <or =
and tree nuts during pregnancy was inversely associated with focus on monitoring asthma severity and control, the latter de ned
as the degree to which manifestations of asthma are minimized by
therapeutic interventions and the therapy goals are met.
with atopy; in one study, in children with atopy, exclusive breast- functional limitations currently or recently experienced (impair-
ment). A self-assessment sheet for follow-up visits is available in
-
loaded from http:// www.qvar.com/ asthma/ asthma-
SO R symptoms-checklist.aspx. SO R
-
bles; and a Mediterranean diet may be useful for the prevention of exacerbations, progressive decline in lung function (or lung growth
asthma. In addition, raw cow’s milk consumption appears protec- for children) or risk of medication adverse effects. A patient self-
Provision
of a visually standardized, interpreted peak ow graph to assist in
PRO GNO SIS understanding when to add medication or contact a health provider
may reduce need for oral steroids and urgent care visits.
-
toms by age 6 years. (“have you noticed a difference, for example less breathlessness”)
optimal delivery.
PART 8
304 CHAPTER 49
THE LUNGS
PATIENT RESO URCES

need for additional treatment.
For general information, these sites are helpful:
-
www.lung.org/ lung-
ease) and maximize control of those conditions.
disease/ asthma/ .
www.nlm.nih.gov/
medlineplus/ asthma.html.
measuring airway in ammation. It is under investigation as a
complementary tool to other ways of assessing airways disease, PRO VIDER RESO URCES
including asthma.
www.nhlbi.nih.gov/ guidelines/ asthma/ asthsumm.pdf.
www.cdc.
gov/ nchs/ fastats/ asthma.htm.
children’s hospital.
patients who received beta agonists, (2) percentage of patients
who received systemic steroids during their hospital stay, and
REFERENCES
care plan including quick reliever and controller drugs, follow-up
appointment, environmental or other trigger control, and a Available at http:
html
- differences in clinical outcomes for acute asthma in the United

J Allergy Clin Immunol
For patients who appear well controlled, step-down therapy can be medication costs and use of medications and health care services
among children with asthma. JAMA
asthma after severe respiratory syncytial virus bronchiolitis.

J Allergy Clin Immunol
rescue performed better than albuterol rescue alone.
http:
PATIENT EDUCATIO N
Essential of Family
Medicine
passive smoking can trigger asthma exacerbations. 60
should also be encouraged along with weight loss, if obese, or
maintenance of a healthy weight. J Allergy
Clin Immunol
asthma and lung function growth in early life. Am J Respir Crit Care
technique, self-monitoring). Med
management and greater understanding of warning signs of wors- risk factors for current wheeze, asthma, and bronchial hyperre-
ening asthma. An example of an action plan can be found in the Chest
Asthma action plans usually use three zones,
similar to traf c lights, with green zone representing good control
risk of asthma, rhinoconjunctivitis, and eczema in adolescents:
-
ing worsening or not well-controlled asthma (e.g., mild to moder-
Three. Am J Respir Crit Care Med
< Am J Respir Crit
- Care Med
-
contains instructions for management, which the primary care hood asthma associated with speci c molds. J Allergy Clin Immunol.
provider can modify.
PART 8
THE LUNGS
television or video-game viewing, and asthma symptoms among education on children’s use of acute care services: a meta-analysis.
J Am Diet Assoc.
- asthma self-management program for adolescents. Arch Pediatr

ronmental factors on wheezing severity in infants: ndings from Asolesc Med
Clin Exp Allergy
adolescents with asthma in Jordan: a cluster-randomized con-
trolled trial. Pediatrics.
J Allergy Clin Immunol based intervention for urban adolescents with asthma: a con-
- trolled trial. Am J Respir Crit Care Med
tion and emergency department visits for asthma and wheeze. -
J Allergy Clin Immunol cation programs improve self-management and health outcomes?
Pediatrics
triad in children with physician-con rmed atopic dermatitis.
J Am Acad Dermatol budesonide in preschool children with recurrent wheezing.
- N Engl J Med
tis, allergic rhinitis and asthma in Taiwan: a national study 2000-
2007. Acta Derm Venereol Addition of long-acting beta2-agonists to inhaled steroids versus
Ann Allergy Asthma higher dose inhaled steroids in adults and children with persistent
Immunol asthma. Cochrane Database Syst Rev
of long-acting beta-agonists to inhaled corticosteroids for chronic

measure for use in children and adolescents. J Allergy Clin Immunol. asthma in children. Cochrane Database Syst Rev
β 2-adrenergic receptor agonists.

asthma in preschool-aged children. J Allergy Clin Immunol Pediatrics
for children with uncontrolled asthma receiving inhaled cortico-

is a clinical indicator of future uncontrolled asthma in asthmatic steroids. N Engl J Med
patients on inhaled corticosteroids. J Allergy Clin Immunol.
corticosteroids in children with persistent asthma: a systematic
- review. Pediatrics
ide measurements and asthma exacerbations in children. Allergy.
of systemic corticosteroids reduces hospital admission rates for
children with moderate and severe asthma exacerbation. Ann
in primary care. BMJ Emerg Med
-
tics of respiratory and allergic phenotypes in early childhood. N Engl
J Allergy Clin Immunol J Med
training on psychosocial morbidity and symptoms in patients cessation. Cochrane Database Syst Rev
with asthma: a randomized clinical trial. Chest
replacement therapy for smoking cessation. Cochrane Database
Syst Rev
cleaners on unscheduled asthma visits and asthma symptoms for
children exposed to secondhand tobacco smoke. Pediatrics. cessation. Cochrane Database Syst Rev
pump inhibitors for the treatment of asthma in adults: a meta-

Mediterranean type of diet is associated with lower prevalence of analysis. Ann Intern Med
-
Pediatr Allergy Immunol
PART 8
306 CHAPTER 49
THE LUNGS
a randomized controlled trial. JAMA predictive clinical scores for asthma exacerbations in childhood.
Chest
for preventing relapse following acute exacerbations of asthma.
Cochrane Database Syst Rev -
consumption during pregnancy and allergic disease in children- J Pediatr
JAllergy Clin Immunol. monitoring improves asthma control in the cold and u season: a
cluster randomized trial. Chest
-
tects against current asthma up to 6 years of age. J Pediatr. practice guideline: interpretation of exhaled nitric oxide levels
Am J Respir Crit Care Med.
primary prevention of asthma and allergy: systematic review and

meta-analysis. J Allergy Clin Immunol -
sions. Pediatrics
- -
J Allergy Clin Immunol methasone dipropionate as rescue treatment for children
adverse perinatal outcomes in women with asthma. BJOG blind, placebo-controlled trial. Lancet
60. Britton J. Passive smoking and asthma exacerbation. Thorax.

pregnancy on maternal asthma symptoms and medication use.
Obstet Gynecol
PART 8
CO MMUNITY-ACQ UIRED PNEUMO NIA 307
THE LUNGS
50 CO MMUNITY-ACQ UIRED
PNEUMO NIA
PATIENT STO RY
Max is a 4-year-old boy who presents with a 2-day history of

cough, fever, and chills. He tells you that his tummy hurts. On
examination, he appears moderately ill and his breathing is rapid
(about 55 breaths per minute); his oxygen saturation on room air
is 94 percent. You hear decreased breath sounds and crackles on
the left side of his chest and possibly on the right. You obtain a
chest x-ray which is concerning for bacterial pneumonia.
(Figures 50-1 and 50-2). You admit him to the hospital with a
diagnosis of probable bacterial pneumonia and prescribe intrave-
nous antibiotics. He improves considerably over 48 hours and is
discharged home on oral antibiotics.
FIGURE 50-2 Late ral che st x-ray in the same child . (Use d with
INTRO DUCTIO N
EPIDEMIO LO GY
Pneumonia refers to an infection in the lower respiratory tract (distal
airways, alveoli, and interstitium of the lung). Community-acquired
pneumonia (CAP) has traditionally referred to pneumonia occurring
is 10 to 40 cases/ 1000, 1 with an incidence rate of 6 to 12 cases/
outside of the hospital setting. A subgroup of CAP that is associated
1000 in children older than 9 years in North America. 2
with health care risk factors (e.g., prior hospitalization, dialysis,
immunocompromised state) has been classi ed as health care-associated
pneumonia. listed pneumonia discharges from short-stay hospitals, 172 (14%)
CAP can be caused by a wide variety of viral, bacterial, and “atypi- were children aged < 15 years.
cal” pathogens. The age and immune status of the host are important
in considering the potential causes and management of pneumonia in
the pediatric population.
rates in 2005 and 2006 for children aged < 2 years of 9.1/ 1,000
and 8.1/ 1,000, respectively. 4 For pneumococcal pneumonia, rates
based population study of children < age 2 years declined from 0.6
visits declined from 1.7 to 0.9 per 1000 children (46.9% decline).
5,6
5.9/ 50,000 children < age 1 year, 0.9/ 50,000 for children aged 1
to 4 years, 0.6/ 50,000 for children aged 5 to 14 years and
1.0/ 50,000 for those aged 15 to 24 years. 7
Streptococcus (S) pneumoniae is the most important pathogen at all

ages. 8 Age, however, is an important consideration: in the rst
20 days of life, most cases of pneumonia are secondary to Group B
FIGURE 50-1 Le ft lowe r and p artial le ft up p e r lob e consolid ation and
p le ural e ffusion on PA che st x-ray in a 4-ye ar-old child , conce rning for Streptococci or gram negative enteric bacteria while among young
b acte rial p ne umonia. (Use d with p e rmission from Camille Sab e lla, MD).
PART 8
308 CHAPTER 50
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rhinovirus are common. 9 Mycoplasma pneumoniae and Chlamydophila

pneumoniae are common in school-aged children and adolescents. 89 DIAGNO SIS
Mycoplasma pneumoniae is the single most common cause of CAP is
school-aged children. Newly identi ed microbes in childhood pneu- CLINICAL FEATURES
monia include human metapneumovirus, human bocavirus, and
8
and sputum production. 8 Children may also complain of fatigue,

such as Pneumocystis jiroveci and Mycobacterium tuberculosis should be myalgia, and headache. 9
considered. 9
chlamydia) often present with low-grade fever, nonproductive
of the disease (identi ed in 85% of cases) was most often viral cough, and constitutional symptoms developing over several days. 9
-
gens). 10 The most common identi ed pathogens were S. pneumoniae abdominal pain. 8
were found in 19 patients; only one patient of 125 tested had a pos- pathogens and bacterial infection is less likely when true wheezing
itive blood culture. is present. 9
percussion, bronchial breathing, egophony, crackles, wheezes, and

lavage, an infectious agent was detected in the majority (76%) of pleural-friction rub. Nonspeci c crackles were reported in two
cases with aerobic bacteria identi ed in about half including non- 15,16
typeable Haemophilus in uenzae (75%), Moraxella catarrhalis ndings in atypical pneumonia may be more diffuse. Pleural effusion
11
(28.9%), and S. pneumoniae is common and appears to increase the risk of a bacterial etiology. 9
oropharyngeal secretions colonized by pathogens.12 S.

pneumoniae and Haemophilus in uenza are the most common pathogens. per minute and oxygen saturation below 96 percent had a high
- speci city (97%) for predicting radiographic evidence of pneumo-
tively or in those with central nervous system disorders) where nia. 17
anaerobes and gram-negative bacilli are common pathogens. 12 percent of pediatric radiologically-con rmed CAP cases. 18
result in Escherichia coli pneumonia and hematogenous spread from

intravenous catheters or in the setting of endocarditis may cause
Staphylococcus aureus pneumonia. 12
Mycobacterium tuberculosis (TB), fungi, legionella, and many respira-
tory viruses are spread by aerosolization. on room air or retractions. 19
LABO RATO RY STUDIES12

RISK FACTO RS13,14
(e.g., erythrocyte sedimentation rate, C-reactive protein, procalci-
Among children < 5 years of age, risk factors include: tonin) are not necessary for children with suspected CAP managed
as outpatients but should be considered for children with more
serious disease, if deemed useful. 19 SO R
(85.8% versus 100%). 20
for distinguishing between viral and bacterial CAP. 19 SO R

-
monia (interpreted in the context of other tests). 19 SO R
Among older children, risk factors include: children who can produce sputum. 19 SO R Tracheal aspirates for
gram stain, culture, and viral pathogens (as appropriate) should be
obtained at the time of initial endotracheal tube placement in chil-
dren requiring mechanical ventilation. 19 SO R
PART 8
THE LUNGS
fully immunized children with CAP managed in the outpatient

setting. 19 SO R
study, investigators found that only 1 percent to 5 percent of chil-

dren with CAP have documented bloodstream infections; preva-
lence is higher among children with severe infection. 21
-
strate clinical improvement and in those who have progressive symp-
toms or clinical deterioration after initiation of antibiotics.19 SOR
for presumed bacterial CAP that is moderate to severe, particularly

those with complicated pneumonia. 19 SO R
and other respiratory viruses should be used in the evaluation of

children with CAP. 19
need for additional diagnostic studies and antibiotic use, while guid-
ing appropriate use of antiviral agents in both outpatient and inpa-
tient settings. 19 SO R
also be useful in diagnosing Mycoplasma pneumoniae, Chlamydophilaia
pneumoniae, legionnaires, and other viral pneumonia. 19 SOR
-
nosis of pneumococcal pneumonia in children, as false-positive tests
are common. 19 SO R
FIGURE 50-3 Rig ht mid d le lob e in ltrate in an infant with b acte rial
p ne umonia. Note the ob lite ration of the rig ht he art b ord e r (arrow)
and suspected hypoxemia. The presence of hypoxemia should characte ristic of a rig ht mid d le lob e p ro ce ss. (Use d with p e rmission
guide decisions regarding site of care and further diagnostic from Camille Sab e lla, MD.)
testing. 19 SO R
IMAGING
suspected CAP in children treated in the outpatient setting.19 SOR
with suspected or documented hypoxemia, signi cant respiratory

distress, those who failed initial antibiotic therapy, and hospitalized
patients. 19 SO R
clinical diagnosis of pneumonia. 22

12
however, they do not differentiate causative agents in CAP19:

~ Figures 50-1 to
50-5 -
dren, in ltrates can appear as round and can be mistaken for a
pulmonary or mediastinal mass (Figures 50-6 and 50-7).
young children, the thymic shadow can be mistaken as a pneu-
monic in ltrate (Figure 50-8).
~
that may be extensive, usually in the dependent lower and posterior

lungs. Although bilateral patchy in ltrate with hilar lymphadenopa-
thy are commonly associated with atypical pneumonia, lobar con-
solidation is not uncommon (Figures 50-9 to 50-11).
~ -
stitium and is usually patchy and diffuse (Figure 50-12 FIGURE 50-4 Le ft up p e r lob e consolid ation on PA che st x-ray in a
pneumonia in children often appears radiographically as parihilar 1-ye ar-old infant. (Use d with p e rmission from Camille Sab e lla, MD.)
PART 8
310 CHAPTER 50
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FIGURE 50-5 Le ft up p e r lo b e consolid ation on late ral che st x-ray in

the same infant as p re vious g ure 50-4. (Use d with p e rmission from
Camille Sab e lla, MD.) FIGURE 50-7 Pne umonia involving the rig ht up p e r lob e on late ral
che st x-ray in the same g irl as p re vious g ure 50-6. (Use d with p e rmis-
sio n from Camille Sab e lla, MD.)
FIGURE 50-6 Round p ne umonia involving the rig ht up p e r lob e on a

PA che st x-ray in a 4-ye ar-old g irl. This infe ction was p re sume d to b e FIGURE 50-8 Thymic shad ow (arrow) on a che st x-ray of a young
d ue to S p ne umoniae and she re sp ond e d we ll to ap p rop riate antib iot- infant, which can b e mistake n for p ne umonia. (Use d with p e rmission
ics. (Use d with p e rmission from Camille Sab e lla, MD.) from Camille Sab e lla, MD.)
PART 8
THE LUNGS
FIGURE 50-9 Bilate ral d iffuse in ltrate s in a 9-ye ar-old child with FIGURE 50-10 Bilate ral d iffuse in ltrate s on late ral CXR in a 9-ye ar-old
Mycop lasma p ne umonia. (Use d with p e rmission from Camille with Mycop lasma p ne umonia. Same child as in Fig ure 50-9. (Use d with
Sab e lla, MD.) p e rmission from Camille Sab e lla, MD.)
FIGURE 50-12 Ce ntral p e rib ronchial thicke ning and p athy in ltrate s in
FIGURE 50-11 Multilob ar in ltrate in a school-ag e d child with an infant with viral p ne umonia. (Use d with p e rmission from Camille
Mycop lasma p ne umonia. Althoug h the classic rad iog rap hic nd ing Sab e lla, MD.)
of Mycop lasma is a b ib asilar d iffuse in ltrate , a lob ar and multilob ar
p atte rn can b e se e n. (Use d with p e rmission from Camille Sab e lla, MD.)
PART 8
312 CHAPTER 50
THE LUNGS
FIGURE 50-15 CT scan of the che st showing le ft lob ar consolid ation

and cavitation from ne crotizing p ne umonia in a p re viously he althy
15-month-old child . (Use d with p e rmission from Camille Sab e lla, MD.)
24
FIGURE 50-13 Diffuse inte rstitial p atte rn in child with Pne mocystis
jirove ci p ne umonia. This child ’s p re d isp osition for this infe ction is acute
le uke mia. Note the p re se nce of a ce ntral ve nous cathe te r to tre at his
complications of pneumonia, such as parapneumonic effusions,
und e rlying le uke mia. (Use d with p e rmission from Camille Sab e lla, MD.) empyema, and necrotizing pneumonia (Figures 50-15 and
50-16).
-
mation. Pneumocystis pneumonia can be represented by any type
of radiographic pattern, but a diffuse interstitial pattern has clas-
sically been described (Figure 50-13).
~ -
enous spread (see Chapter 186, Tuberculosis).
negative unless mucous plugging causes collapse of airways (see
Chapter 49, Asthma and Pulmonary Function Testing).
Figure 50-14).
FIGURE 50-16 CT scan of the che st showing rig ht lob ar consolid ation
FIGURE 50-14 Ne crotizing p ne umonia (arrow) in the rig ht up p e r lob e and cavitation from ne crotizing p ne umonia cause d b y S p ne umoniae
and larg e p le ural e ffusion on the le ft sid e cause d b y S p ne umoniae in a in a p re viously he althy 9-ye ar-old child . (Use d with p e rmission from
4-ye ar-old g irl. (Use d with p e rmission from Camille Sab e lla, MD.) Camille Sab e lla, MD.)
PART 8
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MANAGEMENT healthy, appropriately immunized infants and preschool children

with mild to moderate CAP suspected to be of bacterial origin. 19
SO R A Cochrane review supported use of amoxicillin (or co-
to identify children with CAP who may be candidates for inpatient trimoxazole) as rst-line therapy with amoxicillin clavulanate and
treatment (see the following section “Hospitalize”). Children should cefpodoxime considered as alternative second-line drugs; limited
data were available on other antibiotics. 29
ventilation SO R or have a pulse oximetry measurement of < 92
-
percent on inspired oxygen of >0.50. Children should be admitted to
ately immunized school-aged children and adolescents with mild to
moderate CAP with consideration of atypical pathogens. 19 SO R
capabilities for any of the following:19
SO R should be prescribed and diagnostic testing performed (Table 50-1).
SO R Authors of a Cochrane review were unable to determine whether
macrolides were superior to other agents for pneumonia due to
Mycoplasma as most trials found no differences in clinical response
pharmacologic support of blood pressure or perfusion. SO R
with the exception of a single trial where macrolides were associ-
SO R
ated with higher clinical resolution (100% vs. 77% for those not
There is no existing pediatric severity of illness score for CAP in treated with azithromycin).
children but items in the adult CAP severity score can be considered, -
including need for assisted ventilation (invasive or non-invasive sible (within 48 hours) to children with moderate to severe CAP
positive pressure), shock, respiratory distress, multilobar in ltrates
19 SO R
or effusion, comorbid conditions, and unexplained metabolic acido-
59 months with pneumonia, children de ned with severe pneumonia G should be administered to the fully immunized infant or school-
had lower chest wall indrawing and those with very severe pneumo- aged child when local epidemiologic data document lack of substan-
nia had symptoms and signs including central cyanosis, dif culty tial high-level penicillin resistance for invasive S. pneumoniae. 19
breastfeeding/ drinking, vomiting everything, convulsions, lethargy,
unconsciousness, or head nodding. 25 (ceftriaxone or cefotaxime) should be prescribed for hospitalized
infants and children who are not fully immunized, in regions where
guideline, however, recommends that a severity score alone should local epidemiology of invasive pneumococcal strains documents
high-level penicillin resistance, or for infants and children with life
in the context of other clinical, laboratory, and radiologic ndings. 19 threatening infection. 19 SO R
NO NPHARMACO LO GIC with a macrolide (oral or parenteral) in addition to a β-lactam

antibiotic should be prescribed when M. pneumoniae and
improve outcomes for children with CAP. 26 C. pneumoniae are signi cant considerations; diagnostic testing
children aged 1 to 12 years), there were no differences in respira- should be performed. 19 SO R
tory rate, decrease in severity score or days of hospitalization for
children randomized to standardized chest PT versus the group should be provided in addition to β-lactam therapy for hospitalized
randomized to non-mandatory request to breathe deeply, expecto- children if clinical, laboratory, or imaging characteristics are consis-
rate sputum, and maintain a lateral body position once a day. 27 tent with infection caused by S. aureus. 19 SO R
parapneumonic effusion include chest tube without brinolysis, chest to reduce hospital stay but only in children on concomitant
β-agonist therapy (i.e., likely only children with acute wheezing
bene t). SO R For others, steroid use increased length of stay
was no difference in length of stay (median 10 days) by type of proce- and readmission.
dure and outcomes were similar in patients undergoing initial chest
tube placement with or without brinolysis.28 Children undergoing
suppressants) provide relief in reducing cough severity for patients
with pneumonia. SO R
MEDICATIO NS
Antimicrobial therapy is not routinely required for preschool-aged CO MPLEMETARY AND ALTERNATIVE
children with CAP because of the high proportion with viral disease. 19 THERAPY
SOR -
are recommended. 19 Recommended and alternate treatments for CAP
based on a known bacterial pathogen are summarized in Table 50-1. in 2- to 11-month-olds and 20 mg in older children) was not
PART 8
314 CHAPTER 50
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TABLE 50-1 Antimicrob ial The rap y for Pe d iatric Community-Acq uire d Pne umonia
First -line Ag e nt If Ho sp it alize d

Pat ho g e n (o ral) Alt e rnat e Ag e nt (p are nt e ral)
S. Pne umoniae Amoxicillin (90 mg /kg /d ay in Se cond - or third - Amp icillin (150–200 mg /kg /
2 d ose s) g e ne rationce p halo- d ay e ve ry 6 h) O R p e nicillin
sp orin (e .g ., (200,000–250,000 U/kg /d ay
ce furoxime ) O R e ve ry 4–6 h)
le vo oxacin b ,
if susce p tib le
S. Pne umoniae Le vo oxacin b , if susce p tib le Clind amycin (30–40 mg / Ce ftriaxone (100 mg /kg /d ay
p e nicillin re sistant a O R line zolid c kg /d ay in 3 d ose s) e ve ry 12–24 h)
Group A Amoxicillin (50–75 mg/kg/day Clind amycin (40 mg /kg / Pe nicillin (100,000–250,000 U/
stre p tococcus in 2 d ose s), O R p e nicillin d ay in 3 d ose s) kg /d ay e ve ry 4–6 h) O R
V (50–75 mg /kg /d ay in 3 amp icillin (200 mg /kg /d ay
or 4 d ose s) e ve ry 6 h)
Stap hylococcus Cephalexin (75–100 mg/kg/d ay Clind amycin (30–40 mg / Ce fazolin (150 mg /kg /d ay
aure us, me thicillin in 3 or 4 d ose s) kg /d ay in 3 or 4 d ose s) e ve ry 8 h) O R se misynthe tic
se nsitive p e nicillin (e .g ., oxacillin)
(150–200 mg /kg /d ay
e ve ry 6–8 h)
Stap hylococcus Clind amycin (30–40 mg /kg / Line zolid c Vancomycin (40–60 mg /kg /d ay
aure us, me thicillin d ay in 3 or 4 d ose s) or e ve ry 6–8 h or d osing to
re sistant oral line zolid c, if achie ve an AUC/MIC ratio
clind amycin re sistant of > 400) O R clind amycin
(40 mg /kg /d ay e ve ry 6–8 h)
Hae mop hilus Amoxicillin (75–100 mg/kg/d ay Ce fd inir, ce xime , Amp icillin (150–200 mg /kg /
in ue nzae in 3 d ose s) if β-lactamase ce fp od oxime , O R d ay e ve ry 6 h) if β-lactamase
ne g ative O R amoxicillin ce ftib ute n ne g ative , ce ftriaxone
clavulanate (amoxicillin (50–100 mg /kg /d ay e ve ry
comp one nt, 90 mg /kg / 12–24 h) if β-lactamase
d ay in 2 d ose s) if p rod ucing , O R ce fotaxime
β-lactamase p rod ucing (150 mg /kg /d ay e ve ry 8 h)
Mycop lasma Azithromycin (10 mg /kg fol- Clarithromycin (15 mg / Azithromycin (10 mg /kg on
p ne umoniae , lowe d b y 5 mg /kg /d ay kg /d ay in 2 d ose s) O R d ays 1 and 2 of the rap y;
Chlamyd ia tracho- once d aily on d ays 2–5) e rythromycin; for ad o- transition to oral the rap y if
matis O R le sce nts with ske le tal p ossib le )
Chlamyd op hila maturity, le vo oxacin
p ne umoniae (500 mg once d aily) O R
moxi oxacin
a
MIC (minimum inhib itory conce ntration) ≥4.0 µg /mL.
b
16–20 mg /kg /d ay in 2 d ose s for child re n 6 months to 5 ye ars and 8–10 mg /kg /d ay once d aily for child re n 5–16 ye ars, maximum
d aily d ose , 750 mg .
c
30 mg /kg /d ay in 3 d ose s for child re n <12 ye ars; 20 mg /kg /d ay in 2 d ose s for child re n >12 ye ars.
Ab b re viations: h = hours.
Information in this tab le is ad ap te d from re fe re nce 19.
PART 8
THE LUNGS
signi cantly better than placebo in reducing recovery time or

response to treatment
Uganda), zinc at similar dosing reduced the case fatality rate (4% most important factor independently associated with death was an
versus 11.9%), especially among children with human initial low serum albumin concentration.
immunode ciency virus. was also associated with mortality.
-
HO SPITALIZATIO N 19 hood pneumonia, the risk of at least one major sequelae (restrictive
lung disease, obstructive lung disease, bronchiectasis) was 5.5 per-
-
by several factors including respiratory distress and hypoxemia
Adenovirus
pneumonia was associated with the highest risk of sequelae.
level), should be hospitalized for management (skilled pediatric
nursing care). SO R
FO LLO W-UP
CAP. SO R
SO R hospital discharge and/ or follow-up.
observation at home or who are unable to comply with therapy or worsen).

follow-up. SO R
status. 19 SO R Otherwise, repeat blood cultures in children with

PREVENTIO N clear clinical improvement are not needed. 19 SO R
-
bacterial pathogens including S. pneumoniae, Haemophilus in uenzae ings to assess response to treatment for children who are hospitalized
type b, and pertussis to prevent CAP. 19 SO R The use of pneu- with CAP of have pneumonia-associated complications. 19 SOR
mococcal conjugate vaccine is associated with an overall decreased
incidence of invasive disease among children < age 5 years (from recovery from an episode of CAP is uneventful.19 SO R Follow-up
chest radiographs should be obtained in patients with complicated
cases per 100,000 population (2008). pneumonia with worsening respiratory distress or clinical instability,
≥6 months of age, children, adolescents, persons ≥50 or in those with persistent fever that is not responding to therapy
over 48 to 72 hours or with clinical deterioration. 19 SO R
care workers should be immunized annually with vaccines for
12,19 SO R be obtained in patients with recurrent pneumonia involving the
should be assessed at the time of hospital admission for all patients
and appropriate vaccines offered at discharge. 12 SO R suspicion of an anatomic anomaly, chest mass, or foreign body
aspiration.19 SO R
children who smoke. Parents who smoke around their children
should be counseled about the adverse health consequences that
PATIENT EDUCATIO N
this poses for their children.
, respiratory hygiene
measures should be practiced. 12 These include the coughing into with return to school in approximately 4 to 5 days and complete
the elbow and use of hand hygiene and masks or tissues for patients improvement within 2 weeks.
PATIENT RESO URCES

PRO GNO SIS www.healthychildren.org/ English/ health-issues/
conditions/ chest-lungs/ Pages/ Pneumonia.aspx.
www.nhlbi.nih.gov/ health/ health-topics/ topics/ pnu/ .
(and laboratory) signs of improvement within 48 to 72 hours. 19 www.nlm.nih.gov/ medlineplus/ pneumonia.html.
empyema or abscess, pneumothorax, bronchopleural stula), meta- PRO VIDER RESO URCES
static (e.g., meningitis or brain abscess, peri- or endocarditis, http:// pediatrics.aappublications.org/ content/ 128/ 6/
osteomyelitis, septic arthritis), and systemic (e.g., sepsis, hemo- e1677.full.
lytic uremic syndrome). 12
PART 8
316 CHAPTER 50
THE LUNGS
REFERENCES -
- ing children with pneumonia in the emergency department. Clin
diatric community-acquired pneumonia: do we know when, what Pediatr (Phila)
and for how long to treat? Pediatr Infect Dis J -
2. Mullholland K. Magnitude of the problem of childhood pneumo- pnoea in pneumonia de ned radiologically. Arch Dis Child.
nia. Lancet 2000;82: 41-45.
community-acquired pneumonia in infants and children older

Vital Health Stat
-
cessed October 2012. America. Clin Infect Dis
- -
izations among young children before and after introduction of ments for guiding antibiotic treatment in pediatric pneumonia.
Respir Med
MMWR. 2009;58(1):1-4. -
5. File TM. Case studies of lower respiratory tract infections: com- ods for determining pneumonia etiology in children. Clin Infect
munity-acquired pneumonia. Am J Med Dis
for 2007. Natl Vital Stat Rep -
study in Pakistan. BMJ

In
Available at http:// www.cdc.gov/ nchs/ data/ nvsr/ nvsr60/ Emergency Radiology. NewYork: McGraw-Hill,
2000:610-615.
Acta Paediatr. 2010;99(11): the immunocompetent patient. Br J Radiol

1602-1608. 1009.
- -
view and recent advances. Pediatr Pulmonol nia, the assessment of severity and clinical standardization in the
Clin Infect
acquired pneumonia in 254 hospitalized children. Pediatr Infect Dis
Dis J -
dren with community-acquired pneumonia? Arch Dis Child.
or recurrent community-acquired pneumonia: identi cation of

Clin In- in paediatric patients hospitalized with community-acquired
fect Dis pneumonia: a randomised clinical trial. Arch Dis Child. 2012;
97(11):967-971.
Harrison’s Principles of Internal Medicine, 16th ed. pleural drainage procedures for the treatment of complicated
pneumonia in childhood. J Hosp Med
-
tors for community-acquired pneumonia in children: a population- acquired pneumonia in children. Cochrane Database of Syst Rev.
based case control study. Scand J Infect Dis
acquired pneumonia in pre-school-aged children. J Paediatr Child for community-acquired lower respiratory tract infections sec-
Health. 2012;48(5):402-412. ondary to Mycoplasma pneumoniae in children. Cochrane Database
Syst Rev
community-acquired pneumonia in children. Scand J Prim Health -
Care dren hospitalized with community-acquired pneumonia. Pediat-
- rics
tures in differentiating between viral, pneumococcal and atypical -
bacterial pneumonia in children. Acta Paediatr ications to reduce cough as an adjunct to antibiotics for acute
PART 8
THE LUNGS
pneumonia in children and adults. Cochrane Database Syst Rev. -

ease. Available at http:// www.cdc.gov/ vaccines/ pubs/ pinkbook/
pneumo.html, accessed February 2012.
trial of zinc as adjuvant therapy for severe pneumonia in young -
children. Pediatrics. 2012;129(4):701-708. sation. Factors of importance for the short-and long term prog-
- nosis. Scand J Infect Dis Suppl. 1995;95:1-60.
apy reduces case fatality in severe childhood pneumonia: a ran-
domized double blind placebo-controlled trial. BMC Med. 2012 childhood pneumonia; systematic review and meta-analysis. PLoS
Feb 8;10:14. One
PART 8
318 CHAPTER 51
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51 CYSTIC FIBRO SIS EPIDEMIO LO GY

Di Sun, BS, MPH 1
Elumalai Ap p achi, MD, MRCP
PATIENT STO RY -
1,3
A 9-month-old girl presents to her pediatrician for persistent cough,

failure to gain weight and a bulging mass from her rectum. Her individuals.
mother reports that the girl has had two episodes of “pneumonia”
requiring hospitalization at the age of 3 and 5 months. Since that 3
time, she has not gained much weight and is noted to be at the
10th percentile for weight and length. On examination, the patient
has course breath sounds and wheezes throughout the lung elds,
and has rectal prolapse (Figure 51-1). The pediatrician suspects ETIO LO GY AND PATHO PHYSIO LO GY
cystic brosis and orders a sweat chloride test, which is 120 mEq/ L.
This con rms the suspected diagnosis, as a result greater than
60 mEq/ L is diagnostic for cystic brosis. The family is referred to conductance regulator (CFTR) gene on chromosome 7.
a comprehensive cystic brosis center. CFTR gene is a 250 kb, 27 exon gene encoding an ATP binding
cassette transporter found on the apical surface of mucosal epithe-
lial cells. This protein is responsible for regulating chloride
INTRO DUCTIO N entrance into mucosal cells. 5
3,5
leading to a defective protein.

gene that alters the composition of mucus secreted in the lungs, ~
pancreas, sweat glands, digestive tract, and vas deferens.

This leads to obstructive lung disease and pancreatic insuffi- apical surface of mucosal epithelial cells.
ciency leading to malabsorption and malnutrition in affected ~
children.
~
chloride.
SYNO NYMS ~
to splicing abnormalities.
~
surface.
-
insuf ciency and milder pulmonary disease. 3

∆
1
-
lating the chloride conductance across the apical membrane of muco-
sal cells, which impacts sodium and water transport. The end result
is a thick, viscous mucus that leads to in ammation, obstruction, and
6
the airway surface liquid, which leads to impaired ciliary beating

and thus decreased mucociliary clearance. 5
FIGURE 51-1 Re ctal p rolap se in an infant with cystic b rosis. to pathogens because of decreased opsonization, decreased pH, and
(Use d with p e rmission from Elumalai Ap p achi, MD.) inactivation of antimicrobial peptides. 5,7
PART 8
CYSTIC FIBRO SIS 319
THE LUNGS
-
Pseudomonas aeruginosa which leads to phagocytosis and clearance via tion of pancreatic ducts, which can lead to pancreatitis and even-
desquamation. 5
are unable to digest fat and protein, leading to greasy, foul-smelling
which results from thickened secretions from epithelial mucosal stool, abdominal distention, and cramping. This can also lead to
cells in the pancreas and leads to destruction of pancreatic β cells. malnutrition and failure to thrive. Loss of pancreatic endocrine
Although insulin secretion is decreased, there is still some endog- function can also lead to diminished insulin secretion and thus
- diabetes. 6
tion, the in ammation in the pancreas also reduces α cell mass, -
nium ileus due to obstruction from thick intestinal secretions.
some patients with more severe disease, possibly due to increased Older infants and children can develop distal intestinal obstruction
in ammation. As patients develop diabetes, slight peripheral insulin
resistance also develops. 6 ileocecal valve.
-
dren and usually occurs early in life (Figure 51-1). This is
RISK FACTO RS caused by bowel obstruction, malnutrition, and loss of anal sling
musculature.
which can lead to acalculous cholecystitis. Liver disease occurs in
them will develop cirrhosis and eventual liver failure.

DIAGNO SIS
CLINICAL FEATURES
-
-
gens leads to colonization of the airways and in ammation. This mucus obstructing the cervix.
culminates in obstructive lung disease, speci cally bronchiectasis,
and leads to clinical ndings such as diminished breath sounds,
tachypnea, and increased chest diameter. 1
-
-
Staphylococcus aureus and Haemophilus in uenzae.
-
colonized with Paeruginosa. -

Burk-
holderia cepacia, which is associated with a poor prognosis. policy.
threatening and include massive hemoptysis, spontaneous pneumo-

thorax, and pulmonary hypertension.
de nitive genetic testing to con rm the diagnosis.
function (Figure 51-2).
involves using quantitative pilocarpine iontoelectrophoresis. Pilo-
carpine is applied to stimulate sweat glands. Sweat is collected and
analyzed for chloride content.
~ A chloride concentration greater than 60 mEq/ L is diagnostic for
less than 2 months) is considered indeterminate.

~
genotype analysis.
the CFTR >90 percent CFTR

FIGURE 51-2 Dig ital club b ing in a b oy with cystic b rosis. (Use d with
p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.) CFTR mutations are more
PART 8
320 CHAPTER 51
THE LUNGS
more likely to miss a mutation in these patients. 1
whom sweat testing is logistically dif cult or has yielded indetermi-

nate results.
also be assessed directly in vivo by measuring the bioelectric volt-

age difference across nasal epithelium (the “nasal potential differ-
9
This test
have normal sweat chloride and genetic testing.
IMAGING
is visible on routine chest x-ray as the disease process progresses

(Figures 51-3 to 51-5).
-
mothorax and pulmonary hemorrhage (Figure 51-6).
FIGURE 51-4 Bilate ral p atchy op acitie s, marke d p e rib ronchial thicke n-
Figures 51-7 to 51-9). ing e xte nd ing into the lung p e rip he rie s, and hyp e rin ation ind icating
airway ob struction and air trap p ing on che st x-ray in a 10-ye ar-old b oy
with cystic b rosis, homozyg ous d e lta F508. (Use d with p e rmission
of the vas deferens. from Samiya Razvi, MD.)
bowel obstruction. abnormalities such as bronchogenic cysts, congenital airway mal-

formations, immunode ciencies, sickle cell disease, asthma, right
middle lobe syndrome, and foreign body aspiration should always
be considered. 10
gastrointestinal manifestations, help to differentiate these entities
triad of chronic pulmonary disease, steatorrhea, and growth failure.
pneumonia due to dysphagia or gastroesophageal re ux, anatomic
FIGURE 51-3 Marke d p e rib ronchial thicke ning , chronic le ft lowe r lob e
collap se /consolid ation (arrow), b ronchie ctatic chang e s, and mucus FIGURE 51-5 Incre ase d b ronchovascular marking s, p e rib ronchial
p lug g ing of b ronchiole s on che st x-ray in a 6-ye ar-old g irl with a homo- thicke ning and cystic chang e s of b ronchie ctasis on che st x-ray in a
zyg ous d e lta F508 mutation of cystic b rosis. (Use d with p e rmission 13-ye ar-old b oy with cystic b rosis. (Use d with p e rmission from Samiya
from Samiya Razvi, MD.) Razvi, MD.)
PART 8
THE LUNGS
FIGURE 51-8 Saccular b ronchie ctasis of the rig ht up p e r lob e with cav-
itary chang e s and p e rib ronchial thicke ning on axial che st CT scan in a
7-ye ar-old b oy with cystic b rosis. This b oy had a history of chronic
p rod uctive coug h, he mop tysis d uring p ulmonary e xace rb ations, and
sp utum culture s p ositive for multid rug re sistant Pse ud omonas ae rug i-
nosa. (Use d with p e rmission fro m Samiya Razvi, MD.)
FIGURE 51-6 Incre ase d inte rstitial marking s, p e rib ronchial thicke ning ,
b ronchie ctasis in the le ft lowe r lob e and an acute small le ft ap ical is imperative to educate families that early intervention can result
p ne umothorax with visib le le ft lung marg in (arrow) on che st x-ray in a in better outcomes.
20-ye ar old p atie nt with cystic b rosis. (Use d with p e rmission from
Samiya Razvi, MD.)
care center with coordination of care between all health care pro-
viders, especially the primary care physician.
work up of a child with recurrent pneumonia to de nitively -
opment of pulmonary disease.
MANAGEMENT
~ Ensure that the patient is in a smoke-free environment.
~ Airway clearance.
I These regimens take considerable time with adults reporting
- 11
This
ease. This requires educating family members, particularly fami-
identi ed at birth may often not have clinical manifestations, but it
FIGURE 51-9 Saccular b ronchie ctasis of the le ft lowe r lo b e , p e rib ron-

chial thicke ning and sig ne t ring sig n (arrow) d e monstrating d ilatation
FIGURE 51-7 Pe rib ronchial thicke ning , incre ase d inte rstitial marking s, and e nlarg e d d iame te r of b ronchiole comp are d to the accomp anying
and cylind rical b ronchie ctasis on axial CT scan of the same b oy as in p ulmonary b lood ve sse l on axial che st CT scan in a 17-ye ar-old g irl with
Fig ure 51-4. (Use d with p e rmission from Samiya Razvi, MD.) cystic b rosis. (Use d with p e rmission from Samiya Razvi, MD.)
PART 8
322 CHAPTER 51
THE LUNGS
I <2 years of age, the recommended method of muco- ~
ciliary clearance is percussion followed by postural drainage.

I
- infants >
ter, Acapella, and high-frequency chest wall oscillation (Vest).
17
No trials have demonstrated the superiority of one device over
I
I >
I Asymptomatic patients with at least one copy of a pancreatic
hypertonic saline after bronchodilator pretreatment.12,13 SOR
I Azithromycin given three times a week is recommended for ~ All patients should be started on age-appropriate doses of fat sol-
children >6 years of age colonized with Paeruginosa, based on
trials showing increased pulmonary function and increased every two months the rst year and annually afterward.
length of time between infectious exacerbations. SO R ~ <2 years of age who fail to grow despite adequate intake
17
The precise mechanism of action of azithromycin in this setting
in not known, although an anti-in ammatory effect is postu- ~ Other supplementations for infants under age 2 years include salt
lated. The long-term bene t of such treatment is not clear.
~ and uoride 0.25 mg/ dl if the water supply contains <0.3 ppm
progression of lung disease. uoride. 17
~ Aerobic exercise should also be encouraged. ~
an endocrinologist. 12
~
I >6 months of age. ~
I Palivizumab for infants <2 years of age to prevent severe respi- microbiological examination of respiratory tract ora by a labora-
ratory syncytial virus infections. tory that is experienced in detecting pathogens of cystic brosis,
~ <2 years of age, all patients should
undergo oropharyngeal cultures every 3 months. ~
~ A variety of antimicrobial prophylactic antimicrobial agents are increased cough, increased sputum production, dyspnea, chest
into consideration potential bene ts and risks. ~
~ <2 years of age who are colonized with Paeruginosa should be admitted to the hospital for intravenous and inhaled
should receive primary treatment aimed at eradicating the patho- antibiotic administration.
gen. 11,16 SO R ~ Antimicrobial agents are chosen based on the colonizing strains
~ Patients chronically infected with Paeruginosa should receive and their susceptibilities.
inhaled antibiotic treatment. Although prior recommendations ~
were to receive inhaled tobramycin every other month, recently be intensi ed. Patients may also require additional support
centers have switched to continuous inhaled tobramycin treat- including supplemental oxygen and bronchodilators.
ment or alternating inhaled tobramycin with colistin. 12 SO R
~ SURGERY
contact with each other to prevent spread of colonizing agents
among patients. patients with cystic brosis and end-stage pulmonary disease. A
recent study, however, questioned the bene t of lung transplanta-
~
weight-for-length by 2 years of age. This is associated with

improved pulmonary function in later life. Although breast milk
is recommended, infants who are formula-fed have similar
REFERRAL
weights to breast milk-fed babies. Standard infant formula can be
used as there are no bene ts from hydrolyzed formula. 17
~
supplemented with forti ed human milk, formulas with higher

calories, or complementary foods. Enteral supplements may be
necessary to improve weight gain. 17
~
Early intervention with parents consistently praising children for
trying new foods or eating independently, ignoring behavior when
children refuse to eat, and limiting meal times to 15 minutes while
increasing the frequency of snacks can help with this issue. 17 pulmonary infections, nasal polyposis, failure to thrive, or
PART 8
THE LUNGS
qualityimprovement/ patientregistryreport/ , accessed

chloride test. September 3, 2013.
PRO GNO SIS and pathobiology. Clin Chest Med
Clin Chem
1,2
- -
1 ment of pulmonary infections in cystic brosis. Am J Respir Crit
Care Med
-
FO LLO W-UP ogy, and prognostic implications of cystic brosis-related diabe-
Diabetes Care
Am J Respir Crit
microbiologic cultures of respiratory ora should be carried out
Care Med
-
cystic brosis. Curr Opin Pediatr
sicians. All routine vaccinations should be given at age appropriate
times.
difference across respiratory epithelia in cystic brosis. N Engl
J Med
PATIENT EDUCATIO N Pediatr Infect
Dis J
Pediatr Pulmonol.
provided with education on the importance of adhering to these
regimens.
learn to take charge of their own therapies. This often requires Quality of Life. Am J Respir Crit Care Med
additional training and support from the provider.
PATIENT RESO URCES

www.cff.org. moderate lung disease. Pediatr Pulmonol
www.nhlbi.nih.gov/ health/
health-topics/ topics/ cf.
www.cfri.org/ PW 3rd, et al. Azithromycin in patients with cystic brosis chron-
cfsupport.shtml.
www.cftr2.org. controlled trial. JAMA
PRO VIDER RESO URCES antibiotics for cystic brosis. Cochrane Database Syst Rev
http:// pedsinreview.aappublications.org/ content/ 30/
8/ 302.full?sid=a05fb5ed-0219-4bc0-a89c-dc92cbe6a5dc.
www.cftr2.org/ browse.php. colonization with Pseudomonas aeruginosa postpones chronic infec-
tion and prevents deterioration of pulmonary function in cystic
www.ecfs.eu/ ecfs_guidelines.
brosis. Pediatr Pulmonol
17.
REFERENCES
Pediatr Rev Am infants with cystic brosis. J Pediatr
Acad Pediatr
2. Cystic Fibrosis Foundation— Patient Registry Report survival in children with cystic brosis. N Engl J Med.
PART 8
324 CHAPTER 52
THE LUNGS
52 CONGENITAL PULMONARY
MALFO RMATIO NS
Samiya Razvi, DCH, MD
Elle n Park, MD
Congenital pulmonary malformations are relatively rare entities that

can cause a wide variety of pulmonary ndings in infants and chil-
dren. In this chapter, we review the clinical and radiographic fea-
tures of the most important malformations, including:
1. Congenital absence of the pulmonary vein FIGURE 52-1 Cong e nital ab se nce of the rig ht p ulmo nary ve in: Axial
cut of che st CT scan with contrast showing classical nd ing s of g round
2. Tracheal bronchus g lass chang e s, inte rlob ular and inte rstitial se p tal thicke ning of the rig ht
3. Bronchial cyst lung as comp are d to the normal le ft lung . (Use d with p e rmission from
Samiya Razvi, DCH, MD and Elle n Park, MD.)
4. Congenital lobar emphysema
5. Congenital cystic adenomatoid malformation
6. Pulmonary sequestration SYNO NYM
7. Pulmonary agenesis
Congenital unilateral pulmonary vein agenesis.
CO NGENITAL ABSENCE O F THE EPIDEMIO LO GY

PULMO NARY VEIN
-
aly, found in about 0.5 percent of autopsies performed in children.
PATIENT STO RY
cardiac defects in about 30 to 50 percent of cases.
A 5 year-old-girl is hospitalized for respiratory distress and hypox-
emia. This is her third episode of right-sided pneumonia. She is thinly
built; both height and weight are at the 25th percentile for age. Chest
auscultation reveals ne alveolar crackles over the entire right lung ETIO LO GY AND PATHO PHYSIO LO GY
without wheeze; the left lung is clear. Heart sounds are normal with-
out a murmur. Her chest x-ray shows haziness of the entire right
lung, with patchy opacity in the right lower zone; the left lung is nor- right or left pulmonary vein or both.
mal. She is treated with parenteral antibiotics and improves. Blood
and sputum cultures are negative. She is evaluated further for recur- vein into the left atrium.
rent pneumonia. Serum immunoglobulin pro le is normal. Sweat
chloride is within normal limits. Chest CT scan with contrast shows
Swiss cheese appearance of the entire right lung with cystic lucencies result in pulmonary vein stenosis with narrowing, venous obstruc-
and septal thickening; the left lung is normal (Figure 52-1). Further tion and anatomic variations in the pulmonary vessels that drain the
cardiac evaluation with Echocardiography shows no intra-cardiac affected lung to complete absence of the affected pulmonary vein.
defect. Cardiac catheterization and pulmonary angiography reveal
normal pulmonary artery anatomy, with isolated absence of the right normal development and architecture of the lung, leading to
main pulmonary vein. She is followed closely and her subsequent engorgement of bronchial veins, chronic pulmonary edema, lym-
respiratory illnesses are treated early with antibiotics and bronchodi- phatic dilatation, inter-alveolar septal thickening, patchy interstitial
lators. She remains asymptomatic with exercise tolerance and growth brosis, cystic changes, and development of collateral vessels.
appropriate for age.
affected lung, resulting in large dead space ineffective ventilation
and signi cant ventilation perfusion mismatch.
INTRO DUCTIO N
Unilateral absence of the pulmonary vein is a rare congenital abnormal- DIAGNO SIS
ity thought to be due to atresia of the pulmonary vein during develop-
ment in the prenatal period. This results in abnormal venous drainage The diagnosis is often elusive and dif cult to make; it requires a high
of the affected lung and signi cant ventilation perfusion mismatch. index of suspicion when a patient presents with the clinical history of
PART 8
CO NGENITAL PULMO NARY MALFO RMATIO NS 325
THE LUNGS
recurrent pneumonia together with asymmetry of lung aeration with veins show medial muscular hypertrophy with intimal brosis and
reticular interstitial in ltrates on imaging. This should prompt further luminal narrowing without in ammatory change.
investigation with CT scan and pulmonary angiography.
CLINICAL FEATURES DIFFERENTIAL DIAGNO SIS
5 years age). -
graphic appearance of the lymphatic malformation.
pneumonia and exercise intolerance with dyspnea on exertion. 1
MANAGEMENT
rapidly within the lung parenchyma with suppuration; repeated
infections lead to bronchiectasis and chronic lung disease. NO NPHARMACO LO GIC
defects or pulmonary hypertension can remain undetected and and development and recovery from infection.
present later in adulthood. 2
illnesses.
in the neonatal period presenting with severe respiratory distress, wheeze.

refractory hypoxemia, acidosis, pulmonary hypertension, and
death, with diagnosis made at autopsy. annual in uenza vaccine after age 6 months, 23-valent
pneumococcal vaccine for children aged 2 years every 5 years.
IMAGING
Chest x-ray—Shows haziness of the entire affected lung with reticu- MEDICATIO NS
lar opacities and septal prominence. The affected lung is reduced in
antibiotics tailored to known bacterial pathogens according to age.
the affected lung or lobar involvement with consolidation or suppura-
tion may occur when symptomatic with lower respiratory infection. avoid suppurative complications; parenteral antibiotics when dictated
by clinical presentation and radiological ndings on chest x-ray.
Che st CT scan
- SURGERY
ume, and ground-glass haziness with interlobular septal thickening
throughout the affected lung (Figure 52-1).
theoretical consideration but may not be possible due to complex
and abnormal vascular anatomy.
infarction and chronic pulmonary edema.
suppurative complications or if the affected lung becomes a nidus of
systemic arterial supply to the affected lung. infection. 6 Pneumonectomy effectively eliminates the dead space
3
and left to right shunt that may have developed.
-
omy and may obviate the need for invasive angiography. 4 REFERRAL
-
ciated congenital heart defects and (2) Cardiac catheterization and
lung, with diffuse interstitial thickening, pulmonary edema, and pulmonary angiography, measurement of pulmonary capillary
engorgement of pulmonary lymphatics. wedge pressures for de nitive diagnosis.
Ventilation perfusion scan—Shows marked reduction in ventilation
and perfusion to the affected side without air trapping. -
Bronchoscopy—Shows normal tracheal and bronchial anatomy. tory infections, chest physiotherapy for airway clearance and to
Cardiac catheterization—Pulmonary angiography is used for de- monitor pulmonary function longitudinally.
nitive diagnosis with characteristic ndings: markedly increased pul-
monary capillary wedge pressures, small ipsilateral pulmonary ar-
tery, and absence of the pulmonary vein on venous phase imaging. 5 PREVENTIO N AND SCREENING
HISTO PATHO LO GY
The pulmonary parenchyma shows patchy interstitial brosis, pulmo- recurrent unilateral pneumonia with or without hemoptysis in early
nary arteries show medical muscular hypertrophy. The pulmonary infancy or childhood with chest CT with contrast.
PART 8
326 CHAPTER 52
THE LUNGS
PRO GNO SIS
functionality.
the growing child. Plombage (in which the empty hemithorax is

lled with an inert material, e.g., sterile Lucite balls) is an option
FO LLO W-UP
-
tension and right heart strain secondary to repeated lung infections.
CT Evaluation of Congenital Pulmonary Vein Abnormalities in

Neonates and Infants. RadioGraphics. 2012;32:87-98. FIGURE 52-2 Ab e rrant rig ht trache al b ronchus arising from the tra-
che a p roximal to its b ifurcation, and sup p lying the rig ht up p e r lob e ,
on coronal vie w che st CT scan. The carina, b oth rig ht and le ft main-
ste m b ronchi and the ir b ronchial d ivisions are normal. (Use d with
p e rmission from S. Pinar Karakas, MD.)
TRACHEAL BRO NCHUS
tracheal bronchus to the right upper lobe of the lung arises directly
PATIENT STO RY from the trachea itself proximal to the carina, unlike its typical origin
after tracheal bifurcation, from the right main bronchus.
A 17-year-old boy with Type 1 neuro bromatosis, seizure disorder,
developmental delay, and dysphagia presents in winter with high-grade
SYNO NYMS
and is tachycardic and tachypneic with intercostal and subcostal retrac-
Bronchus suis, Pig bronchus.
pulse oximetry saturations above 92 percent. Chest auscultation reveals
viral screen for in uenza (H1N1) virus is positive. Chest x-ray shows
EPIDEMIO LO GY
right upper lobe consolidation and bibasilar patchy in ltrates. Labora-
tory investigations show an elevated white count and blood culture is
negative. He is treated with broad spectrum parenteral antibiotics, oral
imaging of the chest or bronchoscopy, and occurs in about 2 per-
oseltamivir, inhaled bronchodilators, and aggressive chest physiother-
cent of the population.
apy for airway clearance. He improves with weaning in his oxygen
requirement to room air. Serial chest x-rays show right upper lobe col-
lapse, which persists despite clinical improvement, even a month after from the mainstem of the trachea proximal to the carina (a “pig
discharge home. Further imaging with chest CT with contrast is done, bronchus” with all three segmental branches from it with no con-
which shows a tracheal bronchus supplying the right upper lobe, with a nection of the right upper lobe to the right main bronchus) or it
mucus plug obstructing the aberrant tracheal bronchus lumen (Figure may consist of only the right upper lobe apical bronchus with ante-
52-2). As he is asymptomatic and clinically stable, he is continued on rior and posterior segmental upper lobe branches arising from the
chest physiotherapy with manual clapping and inhaled bronchodilators. right main bronchus.
A follow-up chest x-ray 2 months later shows resolution of the right
upper lobe atelectasis with well aerated lung elds bilaterally. 0.3 to 1 percent for left tracheal bronchus have been reported in
bronchoscopic and imaging studies. 7
INTRO DUCTIO N
upper lobes of the lung.
Tracheal bronchus describes a variety of bronchial anomalies, which -
arise from the main trachea proximal to the carina. An aberrant tal anomalies including trachea-esophageal stula, tracheal stenosis,
PART 8
THE LUNGS
esophageal stula, esophageal atresia, renal defects), and Trisomy 21. DIFFERENTIAL DIAGNO SIS
ETIO LO GY AND PATHO PHYSIO LO GY normally originating right upper lobe bronchus arising from the
right main bronchus.
are the reduction, selection and theories of bronchial bud develop-

ment (that the nal anatomy is the result of shrinkage, suppression
from the initial location to arise from new origins) resulting in local MANAGEMENT
disturbances in morphogenesis. 7
-
it can impact the care of children undergoing anesthesia and
ized pulmonary problems: partly due to the more horizontal direc-
intubation and post-operative recovery. This airway anomaly must
tion of the tracheal bronchus, which impairs airway clearance as
compared to the more vertical and gravitationally assisted normal
is noted. 9
con guration of the right upper lobe bronchus.
symptoms.
upper lobe and recurrent infections with potential for suppurative
changes and development of bronchiectasis.
if recurrent suppurative infections occur.
lobe of the lung are normal. -
tive and expectant management with antibiotics, chest physiother-
apy and airway clearance are preferred.
DIAGNO SIS
NO NPHARMACO LO GIC
Tracheal bronchus is now diagnosed with increased frequency as a
result of advances in and availability of chest CT imaging. Broncho-
in children with conditions known to be associated with tracheal
scopic examination of the airways is de nitive, clearly demonstrating
the tracheal origin of the aberrant bronchus.
tracheal stenosis.
CLINICAL FEATURES
bronchoscopic examination. MEDICATIO NS
8 and augment chest physiotherapy maneuvers.
occur. SURGERY
lung disease secondary to bronchial obstruction and impaired drain-

age of secretion.
ori ce of the aberrant tracheal bronchus by the endotracheal tube. 9
REFERRAL
occur resulting in impaired ventilation.
for airway clearance, instruct patient in use of airway clearance
IMAGING devices using positive end-expiratory pressure, that is, Acapella or
Flutter device.
opaci cation that may be recurrent or persistent in nature.
proximal to the carina; the rest of the bronchial anatomy is normal PREVENTIO N AND SCREENING
with normal lung parenchyma. 10 CT virtual bronchoscopy is a non-
invasive alternative for diagnosis. Tracheal bronchus should be screened for in children presenting with
- recurrent right upper lobe pneumonia or collapse, particularly if
nation of the airway, and visualization of the origin of the aberrant there are other associated congenital malformations of the heart,
bronchus from the tracheal lumen proximal to the carina. 11 vertebrae, and gastrointestinal tract.
PART 8
328 CHAPTER 52
THE LUNGS
PRO GNO SIS
bronchus. Prognosis is good following surgical intervention with

lobectomy.

www.emedicine
.medscape.com/ article/ 837827.
BRO NCHO GENIC CYST
PATIENT STO RY
A healthy, athletic 16-year-old-girl presented with acute right lower

abdominal pain and vomiting for one day. She was evaluated with an
abdominal CT scan with contrast which ruled out acute appendicitis. Inci-
dentally, the lower thoracic cuts of the CT scan showed a low density mass FIGURE 52-4 MRI che st with g ad olinium d e monstrating uniform uid
d e nsity cystic le sion infe rior to le ft mainste m b ronchus. (Use d with
inferior to the left mainstem bronchus (Figure 52-3). There were no lung p e rmission from Samiya Razvi, DCH, MD and Elle n Park, MD.)
parenchymal abnormalities, no adenopathy or effusion noted. She reported
no symptoms, her lungs were clear on auscultation and spirometry
showed a 40 30 37 mm mass with increased signal intensity located respiratory epithelium, with a brovascular connective tissue wall
between the left inferior pulmonary vein and the descending thoracic aorta of hyaline cartilage, smooth muscle and mucus glands.
without contrast enhancement following administration of gadolinium
(Figure 52-4). This cystic infrahilar mass appeared most compatible with a not typically air lled. They contain uid (water), with variable
bronchogenic cyst. Elective surgical resection of the cyst was done success- amounts of proteinaceous material.
fully via thoracotomy; histopathology showed ciliated respiratory epithe-
lium with goblet cells without metaplasia. She recovered uneventfully, was
asymptomatic and returned to sport with normal exercise tolerance. SYNO NYMS
INTRO DUCTIO N
EPIDEMIO LO GY
the ventral diverticulum of the foregut during embryologic devel-
opment of the tracheobronchial tree. 12 -
-
tally upon routine chest radiography.
often in males. 1
occur in various locations depending on the stage of embryogenesis

in which their formation occurs.
-
nal), intrapulmonary, and extrathoracic (para-esophageal and even
subdiaphragmatic).
-
FIGURE 52-3 Cystic homog e nous infratrache al le sion on che st CT press adjacent structures in the mediastinum.
without contrast, axial cut. (Use d with p e rmission from Samiya Razvi,
DCH, MD and Elle n Park, MD.)
PART 8
THE LUNGS
DIAGNO SIS DIFFERENTIAL DIAGNO SIS15
Usually suspected from its appearance on chest radiograph as a well
be made by surgical excision and histopathological con rmation of the

cyst lining as pseudo-strati ed ciliated epithelium and wall containing
cartilage, smooth muscle, or mucus glands.
CLINICAL FEATURES
commonly mediastinal in location.

but ultimately de nite diagnosis is made by histopathologic
detection on imaging, to symptomatic large masses causing com- con rmation.
pression of adjacent structures. 13
MANAGEMENT
to atelectasis of the lung; or air trapping if partial bronchial Although the clinical course is uncertain, surgical excision is recom-
obstruction. mended even in asymptomatic patients to prevent complications
- including compression, infection, hemorrhage and malignant degen-
eration. The optimal timing for surgical resection is debated, as cysts
mediastinitis may occur. 13 - tend to grow with age (likely due to mucus secretion), increasing the
tion can result in pericystic adhesions, ulceration of the cyst wall, need for open thoracotomy as compared minimally invasive proce-
and stulous connection with the bronchial tree. dures (video assisted thoracoscopic surgery). 16
degeneration, and potential for development of bronchioalveolar resection between the ages of 6 to 12 months is reported to better
carcinoma.
infectious complications.
DISTRIBUTIO N
SURGERY
intrapulmonary. -
chogenic cysts and if required, lobectomy for intrapulmonary bron-
these cysts do not communicate with the tracheobronchial tree, chogenic cysts.
and can be hilar, paratracheal, or subcarinal in location.
partial excision with de-epithelization must be done in order to
predilection for the lower lobes of the lung, and cyst lumen may prevent recurrence at a later date.
communicate with the tracheobronchial tree.
assisted thoracic surgery (VATS) with favorable outcomes
IMAGING for both with regard to duration of surgery and overall
— complications. 17
—Plain lms reveal homogenous mass lesions, occasion- REFERRAL

ally an air uid level or peripheral calci cation in the wall are noted. Pediatric cardiothoracic surgery.
cyst in relation to adjacent structures which aids preoperative plan-

PRO GNO SIS
with well circumscribed smooth or lobulated margins. The cyst
-
uation without contrast enhancement. 14 rupture, compression of adjacent structures) is estimated to be
— about 20 percent, and untreated cysts would need to be followed
cysts from solid mediastinal masses. Simple bronchogenic cysts are with periodic CT imaging, resulting in cumulative radiation dose
uid lled and characterized by very low intensity signals on T1 exposure.
weighted images, in combination with markedly high signal inten-
sity on T2 weighted images depending on the proteinaceous con- required in complicated cysts, which have been infected resulting
tent. 14 There is usually no enhancement with contrast. in adhesions to surrounding tissues.
PART 8
330 CHAPTER 52
THE LUNGS

www.emedicine.medscape
.com/ article/ 1005440.
www.emedicine.medscape
CO NGENITAL LO BAR EMPHYSEMA
PATIENT STO RY
A 10 month-old-male infant presents with history of recurrent

wheezing episodes with intercurrent viral infections. Each episode
begins with upper respiratory symptoms, cough, low grade fever,
and rapidly escalates to severe respiratory distress and hypoxemia
persistent localized hyperlucency of the right upper lobe of the lung

(Figure 52-5). Chest CT scan is done and reveals isolated hyperin a-
tion of the right upper lobe with emphysematous appearance, FIGURE 52-6 Che st CT scan showing e mp hyse matous, hyp e rluce nt
reduced vascularity, and herniation across the mediastinum with con- rig ht up p e r lob e with he rniation across the mid line . The b ronchial
anatomy and vascular sup p ly to the lung is normal. (Use d with p e rmis-
tralateral mediastinal shift (Figure 52-6). There is ipsilateral com- sio n from Nitin Me hta, MD.)
pression and atelectasis of the right lower lobe of the lung. The tra-
cheobronchial anatomy is normal. Surgical consultation is obtained respiratory illnesses; however this responds satisfactorily to inhaled
and an elective right upper lobectomy is performed. Histopathologi- bronchodilator treatments and does not progress to severe respira-
cal examination of the resected lobe of the lung shows overin ation tory distress and decompensation as before. He continues to do well
of alveoli with emphysematous changes, and destruction and paucity at follow-up with good growth and development with well aerated
of interalveolar septae (Figure 52-7). He recovers well postopera- lung elds on follow-up chest x-ray.
-
tinues to have mild residual airway hyperreactivity and wheezing with
INTRO DUCTIO N
Congenital lobar emphysema is a rare congenital abnormality caused

by localized hyperin ation of a histologically normal single lobe of the
lung with herniation of the emphysematous lobe and mediastinal shift
FIGURE 52-5 Plain che st x-ray d e monstrating asymme try in lung ae ra- FIGURE 52-7 Histop atholog ic se ction with d iag nostic nd ing s of
tion (arro ws), e mp hyse matous rig ht up p e r lob e , with he rniation across e mp hyse matous chang e , ove rin ation of alve oli with d e struction and
the mid line and comp re ssion of rig ht lowe r lob e . (Use d with p e rmis- p aucity of inte ralve olar se p tae . (Use d with p e rmission from the De p art-
sion from Nitin Me hta, MD.) me nt of Patholog y, Christian Me d ical Colle g e Hosp ital, Ve llore , Ind ia.)
PART 8
THE LUNGS
to the contralateral side and compressive atelectasis of the ipsilateral

adjacent lung lobes. 18 There may be varying degrees of respiratory baseline due to increase in dead space ventilation, progressive disten-
distress, and occasionally this condition may be mistaken for pneumo- sion and hyperin ation of the affected lobe with respiratory distress.
thorax. This entity was rst reported in 1932. 20
DISTRIBUTIO N
SYNO NYMS
lobe; next in frequency is the right middle lobe and involvement of
Infantile lobar emphysema.
the lower lobes is rare.

EPIDEMIO LO GY
and hypercarbia due to increased dead space ventilation.
wheeze, and respiratory distress with in infants less than 6 months
age. IMAGING
females. 18 unilateral hypoechoic lesion in the lung. 21
congenital anomalies, most often congenital heart disease. across the midline to opposite side, mediastinal shift, and compres-
sive atelectasis of adjacent ipsilateral lung lobes. There may be a
-
widening of the rib spaces as well as attening of the hemi-
tomatic older child or adult.
diaphragm on the affected side.
-
ETIO LO GY AND PATHO PHYSIO LO GY mal bronchial anatomy with stretched attenuated vessels in the
affected emphysematous lobe and herniation across the mediasti-
num to the opposite side. 22
emphysema include developmental anomalies of the bronchus sup-
plying the affected lobe. structural anomalies, bronchial stenosis, or an obstructing mucus plug.
-
chial cartilaginous rings cause the bronchus to collapse during expi- ventilation and perfusion in the affected lobe. This technique also
ration resulting in ball valve effect and air trapping causing emphy- establishes whether the lobe affected by CLE is nonfunctional, and
sematous changes of the affected lobe. 19 whether the compressed lung is functioning normally.
bronchial mucosal proliferation or extrinsic bronchial compression HISTO PATHO LO GY

from aberrant vessels. Shows emphysematous change, overin ation of alveoli with destruc-
tion, and paucity of interalveolar septae (Figure 52-7).
DIAGNO SIS
Congenital lobar emphysema is diagnosed based on clinical and radio-
logic ndings with histological con rmation in patients who have
undergone surgical removal of the affected lung lobe. presence of lung markings in CLE.
CLINICAL FEATURES
MANAGEMENT
may be severe; about half the cases are reported to be symptomatic Treatment is based on the acuity of presentation and severity of respi-
in the rst few weeks of life. ratory distress. Traditionally, surgical resection of the affected lobe is
recommended, either electively in the mildly symptomatic infant or
urgently when there is life-threatening respiratory decompensation
and failure. 23
Some patients with mild symptoms have been treated conserva-
- tively without surgical intervention and are reported to have done
rent episodes of wheezing to severe respiratory decompensation well. However the long-term impact of conservative treatment is yet
and respiratory failure. undetermined and needs further evaluation.
PART 8
332 CHAPTER 52
THE LUNGS
SURGERY
life-threatening respiratory distress.

-
tilation poorly with risk for air trapping, further distension of the
affected lobe with cardiorespiratory compromise for which they
must be carefully monitored. 23
anesthetic induction; the abnormal lobe herniates through the tho-

racotomy while the remaining lung is atelectatic.
expands to ll the hemithorax.
REFERRAL FIGURE 52-8 CT axial vie w showing cystic luce ncie s in the rig ht lowe r
lob e of the lung d iag nostic o f cong e nital cystic ad e nomatoid malfor-
Pediatric cardiothoracic surgery. Pediatric pulmonology to follow mation (CCAM). (Use d with p e rmission from Samiya Razvi, DCH, MD
lung function and development longitudinally. and Elle n Park, MD.)
PRO GNO SIS

the cystic lesion of the right lung is noted to be progressively smaller
24 with fetal growth, and is reduced in size to about 10 percent of the
right lung towards term. The infant is born normally at 40 weeks ges-
-
tation, a male with birth weight 3.5kg, and Apgar scores 9 and 10,
dren up to the age of 6 to 8 years, resulting in near normal lung
and 1 and 5 minutes respectively. There are no respiratory symptoms
volume and function.
or distress. The neonate is asymptomatic, feeding and sucking well,
with comfortable respirations and normal oxygenation on pulse oxim-
FO LLO W-UP etry. Physical examination is normal and his lungs are clear on auscul-
tation. Chest x-ray taken on the rst day of life shows normal well
aerated lung elds bilaterally without any masses or opacity noted.
lung growth and development in young children. 24 The infant is followed closely and remains well without any respira-
tory symptoms. He has mild gastroesophageal re ux in the rst 3
months but normal weight gain. Chest x-rays are repeated at regular in-
done in older children. tervals at age 1, 3, and 6 months and are normal. A chest CT scan with
contrast is planned and done electively at age 12 months, given the his-
PATIENT RESO URCES tory of the prenatally detected cystic right lung lesion. The chest CT scan
shows a cystic lesion of the right lower lobe, with hyperlucent loculation,
www.emedicinehealth.com/ emphysema_congenital_
normal bronchial anatomy and normal blood supply (Figure 52-8).
lobar-health/ article_em.htm.
PRO VIDER RESO URCES thoracotomy. He tolerates the surgery well, without complications.
www.emedicine.
medscape.com/ article/ 407635. active with good exercise tolerance, and no respiratory symptoms.
INTRO DUCTIO N
CONGENITAL CYSTIC ADENOMATOID
MALFORMATION (CCAM)
Chin and Tang in 1949. This malformation is considered to be a
PATIENT STO RY result of cessation of bronchial maturation, and characteristic over-

growth of mesenchymal elements, which produce the adenomatoid
A 35-year-old-woman, with history of 4 previous spontaneous abor- appearance with reduction in the number of alveoli. 25
tions (all occurring in the rst trimester of pregnancy) is followed
closely at the obstetric high risk clinic. Prenatal ultrasound screening
of the fetus, detects a cystic lesion of the right lung at 20 weeks gesta- SYNO NYMS
tion, which occupies about 40 percent of the right hemithorax. There
are no associated congenital abnormalities and fetal growth and
PART 8
THE LUNGS
EPIDEMIO LO GY
proposed as etiology. Failure in the interaction between mesen-

chyma and epithelial elements during lung development and matu-
ration may result in the discordance in vascularity and proliferation
of lung tissue.
histopathology by Stocker et al. 26 is as follows:

~
a single lobe, with cysts usually greater than 2 cm in diameter.

Cyst walls have a lining of respiratory epithelium and communicate
with the proximal airways and distal lung parenchyma.
FIGURE 52-9 Chest radiog rap h in a newborn with congenital cystic
~
adenomatoid malformation (CCAM) shows large cystic areas in the right
obstruction of the airways during development resulting in mul- lower lobe with some mass effect and depression of the hemidiaphragm.
tiple small cysts less than 1 cm in diameter. (Used with permission from S. Murthy Chennapragada, MD.)
~ Type III—Solid airless mass consisting of mostly bronchiolar
elements with respiratory epithelial lining, and some alveolar
elements.
patients in some reports.

DIAGNO SIS
IMAGING 28
A signi cant proportion are detected on antenatal ultrasound
screening as cystic or solid fetal lung lesions. If detected postnatally
screening, as hypoechoic or cystic fetal lung lesions, depending
be suspected in cases of unilateral recurrent pneumonia, or when
there is persistent localized opaci cation noted on serial chest provides additional detail on structure of the lesion and reliably
x-rays.
systemic feeding vessel, which differentiates this from pulmonary

CLINICAL FEATURES sequestration.
which are then con rmed postnatally by chest CT scan in those lled cystic lesion, cystic lesions interspersed with parenchymal
who are liveborn. 27 opacity or a solid appearing lung mass (Figures 52-9 and 52-10).
-
tress, especially if large cystic lesions. Signi cant cardiorespiratory the postnatal evaluation of infants suspected to have a congenital
compromise can occur due to associated pulmonary hypoplasia, lung lesion (Figures 52-11 and 52-12).
which can be severe, as a result of mass effect of the lesion during
intrauterine development. 27
-
tected in early infancy, and may present later in childhood or even
adulthood as unilateral recurrent pneumonia, lung abscess, persis-
tent localized chest opacity on chest x-ray or rarely with malignant
transformation. 27
~ Pulmonary sequestration.
~ Congenital diaphragmatic hernia.
DISTRIBUTIO N ~ Teratoma.
- ~ Bronchogenic or enteric duplication cyst.
eral lesions have been reported. ~ Congenital lobar emphysema.
PART 8
334 CHAPTER 52
THE LUNGS
FIGURE 52-10 Plain CXR of a ne wb orn showing cystic le sions with

soap b ub b le ap p e arance in rig ht lung (arrows), with p oorly d e ne d
marg ins. This is anothe r e xamp le of cong e nital cystic ad e nomatoid FIGURE 52-12 Axial cut chest CT showing sing le larg e cystic le sion with
malformation. (Use d with p e rmission from Nitin Me hta, MD.) we ll-d e ne d wall in rig ht lung consiste nt with cong e nital cystic ad e no-
matoid malformation. (Use d with p e rmission from Nitin Me hta, MD.)
MANAGEMENT
abnormalities do remain in such cases, and CT imaging is essential to

in size toward term on serial ultrasonography and “disappear”; con- delineate the presence, location, and size of the lung lesion. 29
troversy exists whether postnatal imaging should be done -
for such infants. Several authors have shown that signi cant atic, given the risk of complications which include sudden respira-
tory compromise, pneumothorax, infection, compression of adja-
cent structures, rupture, and malignant degeneration.
SURGERY
-
ally emergency resection may be needed. Video-assisted thoraco-
scopic surgery is minimally invasive, safe, and effective. The opti-
mal timing for elective surgery is not well delineated, and is often
recommended in the latter half of infancy to reduce anesthetic and
surgical risks. 29
done as a parenchymal sparing technique to conserve normal

pulmonary remnants for subsequent growth and development.
However, it has been described that the preoperative CT is not
predictive of extension of the malformation to the rest of the
lobe. Segmental resection (subtotal lobectomy or segmentec-
may also be associated with greater incidence of postoperative

complications such as air leak and infections requiring repeat
surgery and lobectomy. 30
FIGURE 52-11 Cong e nital p ulmonary airway malformation Typ e 1.

Che st CT showing multip le cysts of varying size s re p lacing the rig ht REFERRAL
lowe r lob e . The d ominant one s me asure 2 cm and are surround e d
b y multip le smalle r cysts. (Use d with p e rmission from S. Murthy Pediatric Cardiology to evaluate for associated cardiac anomalies or
Che nnap rag ad a, MD.) intracardiac defects.
PART 8
THE LUNGS
Prenatal high resolution ultrasound screening and serial evaluation;
PRO GNO SIS
lesion from 9 to 49 percent, with complications resulting from

severe respiratory distress in symptomatic neonates.
long-term outcomes. Infants and children tolerate lobectomy well

with continued lung growth resulting in near normal lung volumes FIGURE 52-13 Plain CXR sho wing cystic le sion in the rig ht lowe r lob e ,
and gas exchange capacity. with we ll circumscrib e d wall and ce ntral luce ncy with air uid le ve l.
(Use d with p e rmission from Sne ha Varki, MD.)
have worse outcomes. (Figure 52-14). There are no other anomalous vessels. She rst
- undergoes surgical correction of the intestinal malrotation with relief
ciated pulmonary hypoplasia and cardiac anomalies. of her abdominal symptoms. Elective surgical resection of the right
lower lobe lesion with interruption and ligation of the anomalous
supplying artery is done successfully at a later date, with an
FO LLO W-UP uneventful postoperative course. Histopathological examination of
the resected lung lobe shows features characteristic of intrapul-
- monary sequestration (Figure 52-15 -
tivity and wheeze may be present on long-term follow-up in some tomatic with normal chest x-ray and normal lung function as
patients. assessed by spirometry.
monitor lung function.

INTRO DUCTIO N
Pulmonary sequestration occurs as a localized abnormality of the lung
-
parenchyma that is nonfunctioning, lacks communication with the
ment—www.emedicine.medscape.com/ article/
tracheobronchial tree, and has aberrant arterial blood supply directly
1001488-overview.
from the aorta. Sequestration can be either intralobar sequestration
(ILS) or extralobar sequestration (ELS) depending on whether the
www.emedicine.medscape.com/ article/ 407407- affected lung tissue is within the normal lung lobe or outside. 31
overview.
PULMO NARY SEQ UESTRATIO N
PATIENT STO RY
A 13-year-old-African American girl presents with history of inter-

mittent colicky, abdominal pain for several weeks with acid re ux
symptoms. She also has exercise induced asthma, which is well con-
trolled with inhalers. She has a history of pneumonia once at the age
of 5 years; her previous Cx-rays are unavailable. Cx-ray shows cystic
lesion in the right lower lobe with well-de ned wall, central lucency,
and an air uid level (Figure 52-13). She is evaluated with an upper
without acute obstruction. CT scan of the abdomen is done and

shows polysplenia. Chest CT shows a dense contrast enhancing opac-
FIGURE 52-14 CT scan axial cut of the same lesion in Figure 52-13 show-
ity of the right lower lobe, with mixed solid and cystic characteristics ing cystic nature of intralobar sequestration contained within the right
supplied by an aberrant artery from the descending thoracic aorta lower lobe of the lung. (Used with permission from Sneha Varki, MD.)
PART 8
336 CHAPTER 52
THE LUNGS
be present and increase the risk of infection.
DIAGNO SIS
CLINICAL FEATURES
incidentally detected in the older child or adult. 33
and persistent opacity on chest x-ray prompting further imaging

with CT.
in the affected lobe with increased pulmonary blood ow via the

aberrant systemic arterial blood supply.
FIGURE 52-15 Histop atholog ical se ction of intrap ulmonary se q ue s-
te re d lob e - d e monstrating we ll circumscrib e d le sio n, d ilate d b ronchi foregut duplication cysts, pectus excavatum, and congenital heart
with mod e rate mononucle ar ce ll in ltrate in the b ronchial wall, d ilate d defects are reported in about 60 percent of ELS cases. 34
alve oli, a fe w of which contain foamy histiocyte s as we ll as he mosid e ro-
p hag e s within the lume n. The b lood ve sse ls have thick muscular walls
and the re is mod e rate inte rstitial b rosis. (Use d with p e rmission from abscess, massive hemoptysis due to erosion of the systemic artery
the De p artme nt of Patholog y, Christian Me d ical Colle g e Hosp ital,
Ve llore , Ind ia.) supplying the sequestered lobe, and malignant degeneration.
DISTRIBUTIO N
SYNO NYMS
predominance (3:1).
Bronchopulmonary sequestration.
of ELS).
31
EPIDEMIO LO GY
left lower lobe and for EPS is below the left lower lobe.
the frequency of intralobar (ILS) to extralobar sequestration (ELS)

being about 3:1. IMAGING
-
35
-
the lower lobes of the lung; areas of cavitation may occur with
infection and communication with the tracheobronchial tree.
circumscribed, and echogenic masses on ultrasound. Color
-
ment during branching and proliferation of the bronchial struc-
to the sequestered lobe.
tures, with separation of the affected lobe and loss of communica-
tion with the tracheobronchial tree. 32 -
nosis by depiction of the arterial and venous anatomy. However, it
is invasive, with radiation exposure and need for sedation in young
affected lobe does not have its own pleura.
children and has been replaced by noninvasive multidetector CT or
pleura and thus is anatomically separate from adjacent lung tissue.

Chest CT scan with contrast—Now the diagnostic modality
of choice. CT noninvasively con rms the diagnosis, delineates the
the aorta. The venous drainage of ELS is usually into the systemic anatomical location of the sequestered lobe, its lack of commu-
veins, whereas the ILS drains into the pulmonary veins. nication with the bronchial system, and clear demonstration of
the aberrant systemic arterial supply to the affected lobe
during development, increasing the risk of pulmonary hypoplasia. (Figure 52-16).
PART 8
THE LUNGS
in minimizing surgical trauma, morbidity, and postoperative pain.36
Serial prenatal ultrasound imaging for monitoring fetal lung lesions is

recommended at 1- to 3-week intervals until stability of the lesion has
imaging is useful to delineate vascular anatomy and other associated

congenital anomalies.
PRO GNO SIS
-
plications including heart failure due to left to right shunting. As the
lung tissue in the sequestered lobe is nonfunctional, the functional
FIGURE 52-16 Co ro nal Che st CT scan p o st co ntrast imag e s in the increasing use of minithoracotomies and minimally invasive tech-
arterial phase demonstrate an aberrant artery arising from the ab dominal niques, the long-term sequelae on thoracic wall growth and develop-
aorta and sup p lying the se q ue ste re d lung in the rig ht lowe r lob e ; the ment are reduced.
ve nous d rainag e is into the p ulmonary ve ins: intralob ar se q ue stration.
(Used with permission from S. Murthy Chennapragada, MD.)
HISTO PATHO LO GY www.emedicine
.medscape.com/ article/ 412554-overview.
with respiratory epithelium. There may be changes of chronic infec-
tion or in ammation and brosis.
PULMO NARY AGENESIS
PATIENT STO RY
A term male infant is born by elective Caesarean section, to a third grav-

ida mother with gestational diabetes mellitus and history of two previous
Caesarean sections. The infant is pink, vigorous at birth with good cry
MANAGEMENT and tone; Apgar scores are 8 and 9 at 1 and 5 minutes, respectively. His
birth weight is 3000 grams. At 24 hours age, he is noted to have mild
SURGERY
retractions. His pulse oximetry saturations are 96 percent on room air.
the mass, even if asymptomatic, to prevent complications.
breath sounds appear diminished over the right chest. Heart sounds are
vessels to the sequestered lobe to minimize the risk of hemorrhage normal and there is no murmur. A chest x-ray is ordered and shows
during surgery. opaci cation of the right hemithorax, with shift of the mediastinum to
the right. The left lung is hyperin ated and extends across the midline to
-
the right upper chest. The cardiac silhouette is normal. An echocardio-
cult to delineate intra-operatively, making resection challenging
gram is done and shows no intracardiac defect, the great vessels are nor-
for the surgeon and the risk for signi cant and massive bleeding
mal. A chest CT scan is done and shows absence of the right lung and
given the systemic arterial supply.
right main bronchus (Figures 52-17 and 52-18). The left lung bron-
- chial anatomy and lung parenchyma are normal. Virtual bronchoscopy
sions, which may obliterate intersegmental planes, early elective using reconstructive images con rms the ndings of normal trachea, and
resection is recommended. absent right main bronchus, normal left bronchial anatomy. He is diag-
nosed to have complete agenesis of the right lung. There are no other
reduction in size on CT imaging has been reported, but does not congenital abnormalities; renal ultrasound is normal. He is followed
exclude the presence of residual dysplastic tissue with risk for closely after discharge from hospital. He continues to have mild tachy-
malignant degeneration. pnea with retractions at rest, but is otherwise well and gaining weight.
PART 8
338 CHAPTER 52
THE LUNGS
anomaly into 3 categories: (1) agenesis: complete absence of a lung,

bronchus and pulmonary vasculature (2) aplasia: there is a blind-end-
ing rudimentary bronchus coming off the trachea without lung tissue
or pulmonary vasculature (3) hypoplasia: there is a rudimentary bron-
chus and hypoplastic lung, airways, alveoli and pulmonary vessels are
decreased in size and number. 37
EPIDEMIO LO GY
15,000 pregnancies and frequently associated with other abnormalities.

The true incidence may be higher as 50 percent of cases are stillborn and
more than 20 percent die at birth or during their rst few months. 37
lung buds. It has been hypothesized that abnormal blood ow in the

dorsal aortic arch during the 4th week of gestation (embryonic
FIGURE 52-17 Axial cut of che st CT of rig ht p ulmonary ag e ne sis with phase) causes pulmonary agenesis.
classical nd ing s of no d e nab le lung tissue , p ulmonary arte ry o r main
b ronchus on the affe cte d sid e . The re is ip silate ral shift of the he art and
me d iastinum. (Use d with p e rmission from Nad e e m Ahme d , MD, DNB.) contralateral normal lung.
may also be intrinsic tracheobronchial anomalies including tracheal

INTRO DUCTIO N stenosis and tracheomalacia.
Pulmonary agenesis (PA) is a rare developmental defect in which

there is unilateral or bilateral complete absence of the lung, its bron- vascular anomalies.
chus and vascular supply. Schneider and Schwalbe classi ed the
-
esophageal re ux can occur; pulmonary agenesis can be a part of
38
DIAGNO SIS
CLINICAL FEATURES
-
tally detected. 39
-
tory infections to severe distress with respiratory failure requiring
mechanical ventilatory support in the neonatal period.
urogenital systems are present in about half the cases.
anomalies than agenesis of the left lung.
pulmonary artery, or cardiac chamber or vascular ring. Tracheal

stenosis and tracheomalacia can occur.
FIGURE 52-18 Che st CT scan coronal vie w showing comp le te DISTRIBUTIO N

ab se nce of rig ht lung , includ ing rig ht main b ronchus and rig ht p ulmo-
nary arte ry with op aci cation of the affe cte d he mithorax. (Use d with
p e rmission from Nad e e m Ahme d , MD.)
PART 8
THE LUNGS
IMAGING
capacities, lung volumes and airway ow rates in older children
hyperechogenicity of the affected lung. 40 and adults.
affected hemithorax suggestive of collapse consolidation. There is PRO VIDER RESO URCES
asymmetry in the lung volumes and con guration with overexpan- www.emedicine
sion of the contralateral normal lung often causing mediastinal .medscape.com/ article/ 905596-overview.
shift. The de nitive diagnosis is made via pulmonary angiography,
which shows the pulmonary artery to the affected side to be absent.
- REFERENCES
eation with no de nable lung tissue, pulmonary artery, or main
bronchus on the affected side with ipsilateral shift of the heart and
mediastinum. Vascular compression of the major airways can also be Pediatric Cardiology.
detected. 1983;4(2):105-112.
- -
malities and has replaced conventional angiocardiography in patient lated unilateral right pulmonary vein atresia: multidetector CT
management and surgical planning. ndings. British Journal of Radiology. 2011;84(1002):e109-e113.
affected side. Unilateral Pulmonary vein atresia radiologic ndings in 3 adult

patients. Am J Roentgenol. 2001;177(3):681-685.
MANAGEMENT
CT angiography of mildly symptomatic, isolated, unilateral
Asymptomatic patients do not require surgical intervention especially right pulmonary vein atresia. Pediatr Radiol. 2009;39(10):
1087-1090.
be treated early and aggressively as there is low respiratory reserve.
Pulmonary hypertension can occur due to reduction in the pulmonary vein atresia. British Heart Journal 1990;63:350-354.
vascular bed, and if associated with left to right intracardiac shunts
can progress to irreversible vascular disease. -
sia: de nitive diagnosis and treatment. Pediatr Cardiol. 2003;
SURGERY
24:73-79.
obstruction (aortopexy, division of vascular rings, and resection of

bronchial anomalies revisited. RadioGraphics. 2001;21:105-119.
stenotic and malacic bronchus) or for stabilization of the mediasti-
num (relocation of diaphragm and insertion of prosthesis).
Tracheal bronchus: association with respiratory morbidity in
childhood. J Pediatr. 1985;106(5):751-755.
correction. 37
REFERRAL of prolonged atelectasis in intubated children. Chest. 1998;

113(2):537-540.
Pediatric Cardiology to rule out associated congenital heart disease.
Tracheal bronchus in a 6-month-old infant identi ed by CT with

PRO GNO SIS three-dimensional airway reconstruction. BMJ Case Rep. 2009;
bcr2006071100.
-
management; survival into adulthood is reported. scopic analysis and airway management. Otolaryngol Head Neck
Surg. 2002;126(3):240.
heart and mediastinum with consequent distortion of the vascular Pediatric chest II: Benign tumors and cysts.
structures and airway, and a higher incidence of associated cardiac Surg Clin North Am. 2012;92(3):645-658.
and vascular anomalies. 37
13. Limaïem F, , , , . Pul-
monary and mediastinal bronchogenic cysts: a clinicopathologic
FO LLO W-UP study of 33 cases. Lung. 2008;186(1):55-61.
-
sumoto S. Bronchogenic cyst: imaging features with clinical and
scoliosis; major airway compression may lead to symptoms of stridor. histopathological correlation. Radiology. 2000;217:441–446.
PART 8
340 CHAPTER 52
THE LUNGS
mediastinum. Radiographics. 2002;22:S79-93. and postnatal imaging evaluation. JThorac Imaging. 2001;16(4):
196-206.
Bronchogenic cyst: best time for surgery? Ann Thorac 29. Eber E. Antenatal diagnosis of congenital thoracic malformations:
Surg. 2012;94(5):1695-1699. early surgery, late surgery, or no surgery? Semin Respir Crit Care
17. Nasr A, Bass J. Thoracoscopic versus open resection of congenital Med. 2007;28(3):355-366.
lung lesions: a meta-analysis. J Pediatr Surg. 2012;47(5): -
857-861. tomy required in congenital cystic adenomatoid malformation?
J Pediatr Surg. 2012;47(4):642-645.
Semin Thorac Paediatric
Cardiovasc. Surg. 2004;16:209-214. Respiratory Reviews. 2004;5:59-68.
-
ential diagnosis and therapeutic approach. Pediatrics International. physiologic conditions for the surgeon. Surg Clin North Am.
2008;50:658-661. 2012;92(3):615-643.
an adult. Lung India. 2011;28:67-69. The multiple facets of pulmonary sequestration. J Pediatr Surg.
2001;36(5):784-790.
Current imaging of prenatally diagnosed congenital lung lesions.
Semin Ultrasound CT MR. 2010;31(2):141-157. malformations, and congenital lobar emphysema. Semin Thorac
Cardiovasc Surg. 2004;16(3):209-214.
evaluation of congenital lung anomalies. Radiology. 2008; -
247(3):632-648. ing in bronchopulmonary sequestration. Journal of Medical Imaging
and Radiation Oncology 2009; 53:22-31.
diagnosis and management of congenital lobar emphysema.
J Pediatr Surg. 2000; 35(5):792-795. Thoracoscopic treatment of pulmonary sequestration. Eur J
Cardiothorac Surg. 2006;29(5):815-818.
Congenital lobar emphysema: evaluation and long-term follow-up
of thirty cases at a single center. Pediatr Pulmonol. 2003;35(5): agenesis—vascular airway compression and gastroesophageal
384-391. re ux in uence outcome. J Pediatr Surg. 2006;41(6):1165-1169.
-
contemporary antenatal and postnatal management. Pediatr Surg silateral malformations. Am J Med Genet. 1997;70(4):391-398.
Int. 2008;24:643-657. -
- sentations of unilateral lung hypoplasia and agenesis: a report of
matoid malformation of the lung. Hum Pathol. 1977;8:155-171. four cases. Pediatr Surg Int. 1998;14(1-2):94-95.
- isolated right pulmonary agenesis using sonography alone: case

tations of congenital cystic adenomatoid malformation. Pediatr study and systematic literature review. J Ultrasound Med. 2012;
Int. 2006;48(6):626-630. 31(12):2017-2023.
PART 9
THE
GASTRO INTESTINAL
TRACT AND
NUTRITIO NAL
DISO RDERS
St re ng t h o f
(SO R) De nit io n

PART 9
342 THE GASTRO INTESTINAL TRACT AND CHAPTER 53
NUTRITIO NAL DISO RDERS
53 FAILURE TO THRIVE A gastrostomy was subsequently placed for supplemental feeds. Close
follow-up was scheduled with the nutritional support team, his physi-
Ve ra O kwu, MD cian, and social services.
Lori A. Mahajan, MD
INTRO DUCTIO N
PATIENT STO RY Failure to thrive (FTT) is a clinical sign, rather than a diagnosis. A
wide variety of medical conditions and psychosocial factors contribute
A 12-year-old African American boy with cerebral palsy-quadriplegia to FTT. Potential long-term complications of FTT include permanent
was brought to clinic as mother was having progressive dif culty feed- cognitive impairment with decreased IQ, short stature, and serious
ing him (Figure 53-1). He had not been seen in the of ce since age 9 infections due to immune de ciency.
years when he plotted at the 20th percentile for both weight and
length on the cerebral palsy-quadriplegia growth chart. Mother stated
that she was having dif culty obtaining his supplemental 1.5cal/ cc SYNO NYMS
supplement that had been prescribed and her son was becoming pro-
gressively more selective regarding intake of solids. School of cials Malnutrition, nutritional insuf ciency, growth failure.
also reported feeding dif culty. On examination, he appeared emaci-
ated. Length, weight, and BMI were far below the 5th percentile. Labs
including a celiac antibody panel, comprehensive metabolic panel, EPIDEMIO LO GY
CBC with differential, sedimentation rate, and thyroid function stud-
ies were normal with the exception of mild lymphopenia and a low
1
pre-albumin. Swallow evaluation showed oropharyngeal dysphagia
characterized by residuals and delay in swallow onset. A trial of naso-
gastric (NG) feeds resulted in rapid weight gain with good tolerance. care providers.
-
ti able underlying medical condition.
inadequate caloric intake, inadequate absorption or increased

losses, increased metabolic needs, or ineffective utilization. 1,2
A INADEQ UATE CALO RIC INTAKE
habits.
Figure 53-2).
neuromuscular, anatomic-cleft lip, or palate) (Figure 53-3).

-
muscular disease, CNS structural abnormality).
B
INADEQ UATE CALO RIC ABSO RPTIO N
FIGURE 53-1 Ce re b ral p alsy, q uad rip le g ia and se ve re p rote in-calorie
malnutrition in a 12-year-old b oy. A. Note the extremely thin extremitie s.
B. Close -up of the sp asticity and e xtre me e maciation se e n in his che st.
(Use d with p e rmission from Lori Mahajan, MD.) de ciency).
PART 9
FAILURE TO THRIVE THE GASTRO INTESTINAL TRACT AND 343
A B
FIGURE 53-2 A and B. Thin, cache ctic infant who is

failing to thrive d ue to p sychosocial ne g le ct. C. Same
infant afte r one month of ad e q uate calo rie intake .
C (Use d with p e rmission from Cle ve land Clinic Child re n’s
Photo File s.)
INCREASED CALO RIC NEEDS

PART 9
FIGURE 53-4 He p atome g aly and g rowth failure in an infant who was
found to have a g lycog e n storag e d ise ase . The p re se nce of p hysical
nd ing s such as he p atome g aly should raise conce rn for an org anic
e tiolog y for failure to thrive . (Use d with p e rmission from Cle ve land
Clinic Child re n’s Photo File s.)
FIGURE 53-3 Incomplete (A) and complete (B) cleft lip and palate in two
infants with failure to thrive d ue to suck and swallowing d ysfunction.
(Use d with pe rmission from Cle ve land Clinic Child re n’s Photo File s.)
Chapter 187, Congenital Infections.

-
tus, hyperthyroidism, inborn errors of metabolism) (Figures 53-4
and 53-5).
FIGURE 53-5 He p atosp le nome g aly and ab d ominal d iste nsion in a
young infant who has se ve re d e ve lop me ntal d e lay. This infant was
d iag nose d with Nie mann-Pick synd rome , a lysosomal storag e d isord e r.
(Use d with p e rmission from Cle ve land Clinic Child re n’s Photo File s.)
PART 9
TABLE 53-1 Grad ing of Malnutrition b y Wate rlo w Classi cation 4

Cutaneous. Chro nic
Acut e Malnut rit io n* Malnut rit io n**
Grad e (% we ig ht fo r he ig ht ) (% he ig ht fo r ag e )
Mild <90 <95
Mo d e rat e <80 <90
Se ve re <70 <85
RISK FACTO RS
*To calculat e % we ig ht fo r he ig ht , d ivid e child ’s me asure d
we ig ht b y the 50th p e rce ntile value of we ig ht for child ’s actual
he ig ht ag e and multip ly b y 100. He ig ht ag e e q uals the ag e for
drugs, infection, anticonvulsants). which child ’s me asure d he ig ht p lots on the 50th p e rce ntile of
the g rowth curve .
**To calculat e % he ig ht fo r ag e , d ivid e child ’s me asure d
he ig ht b y the 50th p e rce ntile value of he ig ht for child ’s ag e and
palate, congenital heart disease, etc.).
multip ly b y 100.
-
with intestinal absorption, or increases the underlying metabolic tional or endocrine etiologies need to be differentiated from consti-
rate. tutional causes (Figure 53-6).
poor parenting skills or feeding techniques, parental substance or history, medical/ surgical history, family history, and social history
physical abuse, or erroneous nutrition practices (administration of should be obtained.
dilute formula, prolonged exclusive breastfeeding, and intentional
caloric restriction due to fear of obesity).
DIAGNO SIS
CLINICAL FEATURES
~ Weight < 2nd percentile for gestation-corrected age and gender

on > one occasion.
~ Weight < 80th percentile of ideal weight-for-age on a standard
growth chart.
~ Weight to length ratio < 10th percentile.
~ Body mass index for age < 5th percentile.
months.
Taybi Syndrome, Trisomy 21, Turner Syndrome, Williams

Syndrome) growth charts and special needs (Cerebral Palsy-
Quadriplegic) growth charts exist and should be used.
< age 2 years are based on recum-
bent length; a stadiometer with xed headboard and sliding foot-
board should be used.
≥2 years of age.
FIGURE 53-6 Typ ical g rowth curve s se e n in malnutrition (b lue ), g rowth
hormo ne d e cie ncy (re d ) and constitutional g rowth d e lay (ye llow).
moderate, severe (Table 53-1). (Use d with p e rmission from Lori Mahajan, MD.)
PART 9

attempted feeding should be observed.
examination.
5
underlying condition (Table 53-2).
studies in FTT are normal.
TABLE 53-2 Physical Examination Re d Flag s in Evaluation of Failure to Thrive
Re d Flag Diag no st ic Co nsid e rat io n

Vit al Sig ns Tachycard ia Ane mia/incre ase d me tab olic d e mand
Tachyp ne a Pulmonary d ise ase /infe ction
Hyp ote nsion Thyroid or ad re nal insuf cie ncy
Hyp e rte nsion Re nal or card iac d ise ase
Ge ne ral Ap p e arance Poor Hyg ie ne Ne g le ct; limite d re source s
Dysmorp hic Und e rlying g e ne tic synd rome
He ad Microce p halic Cong e nital infe ction, ne urolog ic d isord e r,
g e ne tic synd rome
Wid e ne d ante rior fontane lle or d e laye d Hyp othyroid ism, Hyd roce p halus
closure Vitamin D d e cie ncy
Alop e cia Thyroid d isord e r, fung al infe ction, syste mic
lup us e rythe matosus, d iab e te s me llitus,
iron-d e cie ncy ane mia, vitamin A toxicity,
trichotillomania
Cataracts Cong e nital infe ction, g alactose mia
Ap hthous stomatitis Crohn’s d ise ase
Milk b ottle carrie s Ne g le ct
Horizontal b rown line s on p e rmane nt te e th Ce liac d ise ase
Structural ab normalitie s: hig h arche d or cle ft Me chanical fe e d ing imp airme nt
p alate , e nlarg e d tong ue , e nlarg e d tonsils
Drooling O romotor d ysp hag ia
Ne ck Thyroid e nlarg e çme nt Thyroid d ise ase
Lung s Crackle s, whe e ze s Re active airway d ise ase , cystic b rosis,
chronic infe ction
Card io vascular Murmur Cong e nital he art d ise ase
Dig ital club b ing Card iac d ise ase , p ulmonary d ise ase or
in ammatory b owe l d ise ase
Ab d o me n Incre ase d b owe l sound s, d iste nsion Malab sorp tion
He p atosp le nome g aly Primary live r or b iliary d ise ase , malig nancy,
g lycog e n storag e d ise ase
Enlarg e d kid ne y(s) Urinary ob struction, ne urob lastoma
Re ct al Anal tag s or stula Crohn’s
Emp ty vault with stool e xp losive ly e xp e lle d Hirschsp rung d ise ase
up on withd rawal of d ig it
Ge nit o urinary Amb ig uous g e nitalia End ocrinop athy
Ne uro lo g ic Acce ntuate d d e e p te nd on re e xe s Ce re b ral p alsy, ce ntral le sion, hyp e rthyroid ism
Hyp otonia May cause ine ffe ctive latch
Skin/ Nails Bruising Ab use
Cand id iasis Immunod e cie ncy
O ri cial rash Acrod e rmatitis e nte rop athica
Nail sp ooning Iron d e cie ncy
PART 9
MEDICATIO NS
count, comprehensive metabolic panel, thyroid function tests,
celiac panel, lead level, and a urinalysis may be obtained. Sweat conditions.
chloride testing to rule out cystic brosis and pancreatic function
tests may be indicated. Speci c labs for macro- and micronutrient
for children with failure to thrive without underlying organic dis-
de ciencies should be based on physical ndings.
ease; however, no randomized control trials in this patient popula-
tion have been completed to date. In a small trial, cyproheptadine
IMAGING was shown to be an effective appetite stimulant with minimal side
effects in children and adults with cystic brosis. SO R
~ SURGERY
with recurrent emesis.
~
thrive may be corrected surgically (e.g., pyloric stenosis, intestinal
~ Modi ed barium swallow with speech pathologist present, malrotation, Hirschsprung’s, etc.).
gastric emptying scan.
in the long term, consideration should be given to placement of a
DIFFERENTIAL DIAGNO SIS gastrostomy following a trial of nasogastric feeding. SO R
-
tion if enteral feeds cannot be tolerated. SO R
REFERRAL
MANAGEMENT failure to thrive.

NO NPHARMACO LO GIC
Social Work for persistent failure to thrive is important.
-
ric, and socioeconomic contributing factors.
to thrive.
caloric intake.
if patient has inadequate intake for catch-up growth.
-
tion and can be managed in the outpatient setting in most cases. close monitoring of the trend of the child’s growth chart at each
well child visit may prevent some cases.
contributing factors are suspected.
visiting nurse for ongoing evaluation and support for children/
to stimulate milk production as well as consultation and close families of children at increased risk of failure to thrive.
follow-up with a lactation consultant. Formula supplementation
may be needed until catch-up growth has occurred.
PRO GNO SIS
formula, and adding cereal or oils (vegetable, canola, or coconut)
to increase caloric intake should be provided.
recurrence.
butter as dietary additives to increase the caloric density of foods
permanent effects on growth and brain development. 7
arranged.
FO LLO W-UP
may need to be thickened and speech and occupational therapists
consulted to work on swallowing techniques. Noises and distrac-
tions such as television may need removal during mealtime. Eating After catch-up growth achieved, follow-up should still occur
schedules need to be established with limits placed on snacks and
length of times set for meals. recurrence.
PART 9
REFERENCES
PATIENT EDUCATIO N
-
ogy Outpatient Clinic. Clin Pediatr
nutrition for their children.
-
tion of nonorganic vs organic causes of food refusal and poor
child visits.
feeding. J Pediatr Gastoenterol Nutr.
PATIENT RESO URCES
www.gikids.org/ content/ 33/ en/ Digestive-Topics. J Nutr.
http:// kidshealth.org
http:// www.livestrong.com › ... › Malnutrition Malnutrition. Br Med J.
Am Fam Physician.
overview. an effective appetite stimulant in cystic brosis. Pediatr Pulmonol.
thrive.html.
who fail to thrive? A systematic review. Arch Dis Child. 2005;
.
PART 9
ESO PHAGEAL DISO RDERS: GASTRO ESO PHAGEAL REFLUX
DISEASE AND EO SINO PHILIC ESO PHAGITIS THE GASTRO INTESTINAL TRACT AND 349
54 ESO PHAGEAL DISO RDERS:

GASTRO ESO PHAGEAL
REFLUX DISEASE AND
EO SINO PHILIC
ESO PHAGITIS
Sop hia Ali, MD
Matthe w Wyne ski, MD
PATIENT STO RIES
A 6-month-old boy presents with a history of gagging and emesis

shortly after formula feedings. During these episodes, the child arches
his back and becomes fussy according to his worried parents. His
mother relates that the emesis is mostly partially-digested formula,
and is non-bloody and non-bilious. These episodes occur 2 to 3 times
per day, and the parents are very concerned because their child looks
very uncomfortable during these episodes. His vital signs are stable.
On physical exam, the pediatrician notes a well-nourished baby who FIGURE 54-2 Classic e osinop hilic microab sce sse s se e n in the e sop ha-
is growing appropriately along the 50th percentile for all parameters, g us of a p atie nt with e osinop hilic e sop hag itis. (Use d with p e rmission
from Matthe w Wyne ski, MD.)
is happy and playful. The pediatrician diagnoses gastroesophageal
re ux (Figure 54-1) and prescribes acid-suppression with an
H2-blocker at a weight-appropriate dosing. His episodes of emesis, INTRO DUCTIO N
arching, and discomfort improve signi cantly.
A 12-year-old boy presents with a chief complaint of “food sticking
Gastroesophageal re ux disease (GERD) is a common pediatric prob-
in his throat.” He feels that it happens with several foods, and his
lem in general practice. The manifestations and mechanisms of re ux
mother states that his diet mostly consists of peanut butter sandwiches
vary between infants, children, and adolescents, and is brought to
and steak. His past history is only signi cant for seasonal allergies. He
attention due to the discomfort it causes in all three age ranges.
feels that he has heartburn constantly. Trials of H2-blockers and pro-
GERD is de ned as the passage of gastric contents into the esophagus
ton pump inhibitors in the past resulted in little improvement of his
due to relaxation of the lower esophageal sphincter.
symptoms. An endoscopy is performed and demonstrates white
Eosinophilic esophagitis (EoE) is aTh-2 cell mediated immune dis-
patches and concentric rings in the esophagus, with pathology results
ease which causes epithelial eosinophilia in the esophagus, leading to
con rming a diagnosis of eosinophilic esophagitis (Figures 54-2
and 54-3).
FIGURE 54-1 Re ux e sop hag itis se e n on e nd oscop y. (Provid e d b y The

NASPGHAN Found ation for Child re n’s Dig e stive He alth and Nutrition
and the North Ame rican Socie ty for Pe d iatric Gastroe nte rolog y, FIGURE 54-3 Microab sce sse s and trache alization (conce ntric e sop ha-
He p atolog y and Nutrition. www.nasp g hanfound ation.org and g e al ring s) in a p atie nt with e osinop hillic e sop hag itis. (Use d with
www.nasp g han.org .) p e rmission from Jonathan Mose s, MD.)
PART 9
symptoms of dysphagia and re ux symptoms refractory to acid sup- DISTRIBUTIO N

pression.
re ux can manifest in the stomach as well.
SYNO NYMS
Re ux, gastroesophageal re ux, acid re ux, heartburn.
Eosinophilic gastroenteritis.
speci c for the disease.
Helicobacter pylori stool antigen tests or breath testing
EPIDEMIO LO GY when the diagnosis is not clear.
1
IMAGING/ PATHO LO GIC TESTING
re ux as reported by parents.
1
emesis, including achalasia, hiatal hernia, malrotation, or gastric
outlet obstruction, but should NOT be used to diagnose GERD.
experience re ux symptoms. 2
and can detect acid and nonacid re ux.
3
and gallstones.
around 1 in 10,000.
gastroparesis, or gastric outlet obstruction; however, speci city
ranges are not as high as pH impedance probe. 6
Figure 54-1) but is usu-
- ally performed to rule out other causes that can mimic re ux, such
geal sphincter, allowing gastric juices and contents to re ux back as stricture, peptic ulcer disease, and infectious esophagitis.
into the esophagus.
high-powered eld are diagnostic (Figure 54-4).
build-up of eosinophils in the esophageal mucosa, leading to dyspha-
gia, foreign body impaction, and refractory re ux symptoms. DIFFERENTIAL DIAGNO SIS
RISK FACTO RS appearance.

H. pylori
caffeine consumption, cigarette smoking, neurologic conditions
such as cerebral palsy or seizure disorders, and Down Syndrome.
allergic rhinitis) as well as allergies to food antigens. Genetics also
with similar symptoms. 5
DIAGNO SIS
CLINICAL FEATURES
wheezing or stridor, cough, apnea, irritability, and hoarseness.
abdominal pain, persistent cough or wheezing, stridor, dental

erosions, and hoarseness.
-
- FIGURE 54-4 Eosinop hilic in ltration characte ristic of e osinop hilic
tions, or persistent re ux symptoms unresponsive to therapy. e sop hag itis. (Use d with p e rmission from Thomas Ple se c, MD.)
PART 9
ESO PHAGEAL DISO RDERS: GASTRO ESO PHAGEAL REFLUX
DISEASE AND EO SINO PHILIC ESO PHAGITIS THE GASTRO INTESTINAL TRACT AND 351
are helpful in differentiating from EoE. for gastric ulcers than GERD or EoE.
I Side effects include aluminum toxicity and bezoar formation.
~
may be used in older children. These may contain calcium, mag-

nesium, or aluminum as the active ingredient.
I Aluminum-containing antacids should be used with caution, as
they have been associated with osteopenia, rickets, microcytic
anemia, and neurotoxicity.
Eosinop hilic e sop hag itis

SO R
generalized weakness. ~
coat the esophagus.

~ -
MANAGEMENT lowed.
NO NPHARMACO LO GIC very restrictive and dif cult to implement. SO R
SOR
avoiding spicy foods, caffeinated beverages, chocolate, high-fat
foods, overuse of non-steroidal anti-in ammatory drugs, acidic
foods, juices, and carbonated beverages. 1,2 SOR SURGERY
- GERD as it is major surgery with signi cant risks. SOR

~
~ procedure increases the lower esophageal sphincter pressure and

inducing, including peanuts, soy, eggs, and milk. SOR elongates the esophagus.
~ Eosinophilic esophagitis has also been shown to respond well to ~ Risk of complications is as high as 10 percent postoperatively. 6
an elemental diet with nasogastric feedings of amino acid based ~
formula. SO R surgery.
MEDICATIO NS
Re ux PREVENTIO N AND SCREENING
pharmacologic therapy are not suf ciently controlling symptoms.

and propping infant up at an angle when lying.
~
-
esomeprazole. tive in preventing re ux.
I
~ Avoiding caffeinated beverages, chocolate, acidic foods, spicy
parietal cells. foods, and juices can be effective.

I Side effects include headache, nausea, and diarrhea.
~ Histamine H-2 blockers, including famotidine and ranitidine.
I
allergenic foods and transitioning to an elemental diet if needed.
block acid production.
I Generally less effective than proton pump inhibitors.
I Side effects include headaches and irritability. PRO GNO SIS
~
I
EoE.
I Erythromycin is associated with hypertrophic pyloric stenosis 6
in infants, and with prolonged QT syndrome in older children.
I - -
ing tardive dyskinesia. gus, esophagitis, adenocarcinoma, and esophageal strictures. 6
~ Sucralfate is a topical agent that contains sucrose, sulfate, and
aluminum. therapy can improve long-term outcome of EoE.
PART 9
REFERENCES
PATIENT EDUCATIO N
-
-
re ux during infancy. A pediatric practice-based survey. Arch Pediatr
mended dietary and positional changes to improve symptoms, and
Adolesc Med.
correct other predisposing factors.
-
PATIENT RESO URCES Arch

Pediatr Adolesc Med
www.ncbi.nlm.nih.gov/ pubmedhealth/
PMH0001311/ .
Gastroesophageal re ux and behavior in neurologically impaired
// digestive.niddk.nih.gov/ ddiseases/ pubs/
children. J Pediatr Surg
gerinchildren/ .
.
management concepts for eosinophilic esophagitis in children.
www.gikids.org/ content/ 5/ en/ eosinophilicesophagitis. J Gastroent Hepat
// digestive.niddk.nih.gov/ ddiseases/ pubs/
.
Allergy.
6. Sullivan, J and Sundaram, Shikha S. Gastroesophageal Re ux.
Pediatrics in Review.
guideline.pdf.
decrease regurgitation. Pediatrics
diet is an effective treatment for eosinophilic esophagitis in

children and adolescents. Am J Gastroenterol
Treatment.pdf.
// emedicine.medscape.com/ article/ 930029. budesonide is effective in children with eosinophilicesophagitis
in a randomized, placebo-controlled)trial. Gastroenterology. 2010;
PART 9
PEPTIC ULCER DISEASE THE GASTRO INTESTINAL TRACT AND 353
55 PEPTIC ULCER DISEASE

He nd Azhary, MD
PATIENT STO RY
A 10-year-old boy is brought in by his mother because of several epi-

sodes of vomiting. The most recent episode was small volume and
had some brown-colored material in it. The boy tells you that he has
had stomach pain off and on in the past few months and feels nause-
ated. He has not been having dif culty in school but his mother tells
you that they will likely need to move soon as his father lost his job
recently and has been unable to nd work. The patient is the oldest of
the 3 boys and shares a room with his brothers. He worries about his
dad and hopes that he will be able to stay at his school. You discuss
your concerns and recommend that the patient undergo esophagogas-
troduodenoscopy (EGD). His mother states that the children have
health insurance through a state program and agrees to the testing.
You start the patient on generic ranitidine. His EGD reveals a small FIGURE 55-2 Gastric ulce rs, characte rize d b y whitish line ar g astric
pyloric ulcer and the biopsy specimens test positive for Helicobacter ulce rations along the rug ae , in a young child . (Use d with p e rmission
pylori (Figure 55-1). You prescribe 10 days of triple therapy with from Matthe w Wyne ski, MD.)
bismuth salts, amoxicillin, and metronidazole as the child’s insurance
does not cover the more expensive alternative medications. drug ingestion (e.g., nonsteroidal antiin ammatory drugs (NSAIDs)
or steroids).
INTRO DUCTIO N
EPIDEMIO LO GY
Peptic ulcer disease (PUD) is a disease of the gastrointestinal (GI)
tract characterized by a break in the mucosal lining of the stomach or
duodenum secondary to pepsin and gastric acid secretion; this dam- people annually in the US. It encompasses both gastric and duode-
age is greater than 5 mm in size and with a depth reaching the submu- nal ulcers (Figures 55-1 to 55-4). 2
cosal layer. 1 PUD can be either primary or secondary; the latter most
often due to severe systemic illness (e.g., sepsis) or from ulcerogenic
FIGURE 55-3 Se ve ral focal, d e e p ulce rs (arro ws) no te d in the se cond

FIGURE 55-1 End oscop ic vie w of a p yloric ulce r and an e rosion of the p ortion of the d uod e num in a p atie nt with Crohn d ise ase . (Use d with
mucosa. (Use d with p e rmission from Marvin De re zin, MD.) p e rmission from Jonathan Mose s, MD.)
PART 9
have high basal levels of gastrin; in one study of children with

=
almost three quarters had abnormal upper gastrointestinal endo-
scopic ndings including hemorrhagic gastritis or gastroduodeni-
tis, gastric nodular gastritis, and polyps.
tertiary care center with PUD (N =

about half the cases were secondary; most of these resulting from
10
All children under age 10 years
had secondary PUD.
H. pylori, a short, spiral-shaped, microaerophilic
Gram-negative bacillus, occurs in about half of the world’s popula-
tion and is the leading cause of PUD in adults. H. pylori infection is
adults. 2 In patients who do not use NSAIDS, infection rates are

lower at about 60 percent of those with ulcers. 11
H. Pylori infection is also associated with iron-de ciency anemia,
FIGURE 55-4 Solitary, larg e ulce ration no te d in the se cond p ortion of gastric ulcer, gastric mucosa-associated lymphoid tissue (MALT)
the d uod e num in a p atie nt with Crohn d ise ase . (Use d with p e rmission lymphoma, and distal gastric cancer. 12 In one study of school-aged
from Jonathan Mose s, MD.) Andean children, chronic H. Pylori infection was associated with
to 0.035] slower than H. pylori-negative children). 13

-
lence is 10 percent in the US. 2 H. Pylori infection in childhood PUD is unclear as infec-
1 tion less frequently causes clinical disease in this population. It is
estimated that, at adolescence, approximately 65 percent of chil-
-
tomatic children referred for endoscopy, peptic ulcers were found H. pylori. 12 Vertical transmission appears to occur, although mater-
3
H. pylori nal H. pylori IgG transfer may be protective.
patients and H. pylori-associated ulcers were more common in chil-
-
dren older than age 10 years. A similar rate was demonstrated in a
nosed with gastritis, gastric ulcer, or duodenal ulcer, H. pylori was
upper endoscopy for investigation of upper gastrointestinal symp-
toms had primary PUD. Authors of an Italian study (N = 15
This is similar to the
-
rate of 53.5 percent H. pylori-positive PUD found in the Chinese
tive endoscopies for PUD, rates similar to those reported in older
study
5
NSAIDs or H pylori.
PUD in adults with dyspepsia who undergo endoscopy. 6
H. pylori-associated ulcers and erosions appear to be
with H. pylori
increasing among children. 5
Ulcer disease, how-
H. pylori colonize the deep layers of the gel that coats the mucosa
and disrupt its protective properties causing release of certain
ETIO LO GY AND PATHO PHYSIO LO GY enzymes and toxins. These make the underlying tissues more vul-
nerable to damage by digestive juices and thus cause injury to the
stomach (Figures 55-1 and 55-2) and duodenum cells (Figures
~ Nonsteroidal antiin ammatory drugs (NSAIDs), chronic H. pylori 55-3 and 55-4). 1
infection, and acid hypersecretory states such as Zollinger-Ellison system mounts a lesser in ammatory response reducing the risk of
syndrome. 2 disruption to the gastric mucosa. 12 In the Chinese case series, all
~ Uncommon causes include Cytomegalovirus (especially in trans- children with H. pylori disease had evidence of chronic active
plant recipients), systemic mastocytosis, Crohn disease (Figures gastritis on the biopsy specimens.
55-3 and 55-4), lymphoma, and medications other than NSAIDs
(e.g., alendronate). 2 account for many H. pylori-negative cases. NSAIDs and aspirin
PART 9
inhibit mucosal cyclooxygenase activity reducing the level of muco- of epigastric pain. This was not true in either the study of Italian
sal prostaglandin causing defects in the protective mucous layer. children where only 21 percent with H. pylori-positive PUD had
acute bleeding (eight required emergency surgery)5 or the Cana-
5 percent prevalence of duodenal ulcers in long-term NSAID users.2 dian study where only one child with primary PUD required emer-
The annual risk of a life-threatening ulcer-related complication is 1 gency surgery. 10 These gures are similar to a 10-year US study of
61 children with PUD of whom 31 had primary PUD, most com-
having the highest risk. monly presenting as abdominal pain or bleeding; in this study, one
third required surgery for intractable pain, perforation, or massive
recurrent hemorrhage.
changes and IL-1β expression in the gastric mucosa in adults and
children. In one study of Chinese children with peptic symptoms H. pylori-positive and H. pylori-
(N = - negative PUD in children include male predominance, older age
at presentation, and lower recurrence rates in the former. 5
RISK FACTO RS 1
In the Chinese case series, most children had duodenal ulcers

(N =
surgery, and severe medical illness increase the risk for secondary duodenum. In the Canadian study, duodenal ulcers were nearly
(stress) ulceration. 11 three times more common than gastric ulcers. 10
central and two were pyloric.

20
LABO RATO RY STUDIES
ulcers in not conclusive, with several studies producing contradic-

uncomplicated PUD. 11
tory ndings. However, smoking in the setting of H. pylori infection
may increase the risk of relapse of PUD. 21 A recent US population H. pylori antibody detection, fecal
antigen tests, and 13C-urea breath tests (C-UBT); the latter two, if
former tobacco use. 22 positive, indicate active disease. 25 Although a large number of high
quality pediatric studies have demonstrated high accuracy, sensitiv-
ity and speci city of C-UBT and stool antigen testing, a positive
and nonspeci c gastritis. Evidence that consumption of alcohol is a
test does not con rm or exclude the presence of an ulcer, gastritis
risk factor for duodenal ulcer is inconclusive. 21 The preceding pop-
22 or other pathology and endoscopy continues to be standard care in
children with suspected PUD. 12
PUD; however, they can potentiate ulcer risk in patients who use
Societies of Pediatric Gastroenterology, Hepatology and Nutrition
NSAIDs concurrently. 11
(ESPGHAN and NASPGHAN) do not recommend testing for
H. pylori infection in children with functional abdominal pain, as
- infection has not been shown to be associated with recurrent
22
abdominal pain12 and the primary goal of clinical investigation is to
There appears to be an association between duodenal determine the underlying cause of the gastrointestinal symptoms
ulceration and celiac disease. 23 and not solely the presence of H. pylori infection. 26
H. pylori infection include socioeconomic factors ~ Testing for H. pylori infection should be considered in children
such as lower family income, household crowding, number of chil- with rst-degree relatives with gastric cancer and those with
dren sharing the same room, parents’ education, and sharing a bed refractory iron-de ciency anemia. 26 SO R
with children. 12 ~
gastric biopsies (antrum and corpus) for histopathology should

be obtained for the diagnosis of H. pylori infection. 26 However,
DIAGNO SIS initial diagnosis of H. pylori infection can be based on either
positive histopathology + positive rapid urease test or a positive
CLINICAL FEATURES culture. SO R
H. pylori-related PUD in children are nonspeci c and ~ The 13C-urea breath test (SO R ) or stool antigen test (SOR )
can be used to determine whether H. pylori has been eradicated. 26
de ciency anaemia, and hematemesis. 12
biopsy) combined with non-invasive serology was the optimum

PART 9
approach to the diagnosis of H. pylori infection in symptomatic longitudinal and transverse ulceration (cobblestoning) in addition
children. -
matory Bowel Disease).
accurate test and is useful only for diagnosing the initial infection.
MANAGEMENT
refractory, or complicated PUD and in patients with a family his-
tory of PUD to screen for Zollinger-Ellison syndrome. 1
2-receptor
antagonists (e.g., cimetidine, ranitidine) and antibiotic treatment
IMAGING for H. pylori eradication when present.
duodenal and gastric ulcers (Figures 55-1 to 55-4). 2 demonstrated the effectiveness of 6-week therapy with H2-recep-
-
raphy and affords the ability to biopsy for the presence of malig- duodenal ulcers and all 3 children with gastric ulcer.
nancy and H. pylori infection. Endoscopy is usually reserved for the
be used with caution in low birthweight infants as use is associated

with increased risk of infection, necrotizing enterocolitis, and
abdominal mass, recurrent vomiting, weight loss).
~ Patients who fail initial therapy.
mortality. 30
~ Patients whose symptoms recur after appropriate therapy.
NSAIDs.
-
native to endoscopy but is not as sensitive for the diagnosis of H. pylori-associated ulcers are to
small ulcers (< 0.5 cm) and does not allow for biopsy with gastric relieve dyspeptic symptoms, promote ulcer healing, and to eradi-
ulcer. 25 cate H. pylori infection. Eradication of H. pylori is better than ulcer-
healing drug therapy for duodenal ulcer healing and greatly
reduces the incidence of ulcer recurrence.
DIFFERENTIAL DIAGNO SIS SO R
~
Disease processes that may present with “ulcer-like” symptoms
- ~
nosis among patients seen for upper abdominal discomfort; it is a

diagnosis of exclusion. Dyspepsia has been reported to occur in up ~
to 30 percent of the US population. ~
PPI + amoxicillin + metronidazole for 5 days.

exclusion, de ned as three episodes of abdominal pain occurring in
the space of three months, severe enough to affect daily activities. clarithromycin, and amoxicillin in adults no longer provides an
Associated with stressful life events, proposed etiologies include -
ing prevalence of clarithromycin resistance.
abdominal migraine. ESPGHAN and NASPGHAN recommend antibiotic susceptibility
testing for clarithromycin before initial clarithromycin-based triple
substernal pain that may be associated with acid regurgitation or a
sour taste) aggravated by bending forward or lying down, especially H. pylori to clarithromycin. 26
after a large meal. Endoscopy is considered if symptoms fail to H. pylori fails, ESPGHAN and NASPGHAN
respond to treatment (e.g., histamine-2-receptor agonist, proton 26
~ EGD, with culture and susceptibility testing to guide therapy if

not performed before initial treatment.
~
H. pylori- embedded biopsies if clarithromycin susceptibility testing has not

negative gastritis or duodenal ulcers (Figures 55-3 and 55-4), and been performed before initial treatment.
may develop gastric outlet obstruction. Extraintestinal manifesta- ~ Modify therapy by adding an antibiotic (quadruple therapy),
tions include erythema nodosum, peripheral arthritis, conjunctivi- using different antibiotics (e.g. PPI, amoxicillin, levo oxacin
12
tis, uveitis, and episcleritis. Endoscopy shows an in ammatory pro- adding bismuth,
cess with skip lesions, stulas, aphthous ulcerations, and rectal
sparing. Small bowel involvement is seen on imaging with
PART 9
population; levo oxacin should be cautiously used in children who PATIENT EDUCATIO N
were previously exposed to this drug. 12
regular intervals, avoid alcohol use, smoking, and NSAIDs; stress

and an appropriate course of standard ulcer therapy with a
reduction counseling might be helpful in individual cases.
H2-receptor antagonist or a PPI. If NSAIDs are continued,
prescribe a PPI. SO R
stools, or bloody or coffee ground emesis.

PREVENTIO N
PATIENT RESO URCES
2 blockers
http:// kidshealth.org/ parent/ medical/
to prevent stress ulcers in adults was not necessary in patients
digestive/ peptic_ulcers.html.
receiving enteral nutrition and that such therapy was associated with
pneumonia and higher risk of hospital mortality. 31 In another meta-
analysis of adult patients, PPIs were similar to H2-receptor antago- http:// digestive.niddk.nih.gov/ ddiseases/ pubs/
nists in terms of stress-related UGI bleeding prophylaxis, pneumo- pepticulcers_ez/ index.htm.
nia, and mortality among patients admitted to intensive care units. 32
H. pylori infection is often acquired during childhood, a
vaccine would be optimal for preventing many cases of gastritis and http:// emedicine.medscape.com/ article/ 181753-
PUD. Thus far, however, human vaccine trials have shown only overview.
moderate effectiveness and adjuvant-related adverse effects. 12
REFERENCES
PRO GNO SIS
- eds. Harrison’s Principles of Internal Medicine, 16th ed. NewYork,
of them required surgery for intractable disease.10 None of the

Current Medical Diagno-
children with secondary PUD had chronic or recurrent disease.
sis and Treatment
33
and
NSAIDs peptic disease in children. J Pediatr Gastroenterol Nutr.
In the
more recent Chinese study, the annual ulcer recurrence rates were
H. Helicobacter pylori
pylori Helicobacter pylori-negative idiopathic peptic ulcers in children
with H. Pylori-negative ulcers. In this study, multivariate logistic with their long term outcomes. J Pediatr Gsatroenterol Nutr.
regression suggested H pylori
were independent risk factors for recurrence. As with adults,
eradication of H. pylori infection dramatically reduces recurrence. 12 children. J Pediatr Gsatroenterol Nutr.
patient year and the incidence of obstruction is approximately of clinically signi cant endoscopic ndings in subjects with dys-
0.1 percent per patient year. 11 pepsia? Systematic review and meta-analysis. Clin Gastroenterol
Hepatol
FO LLO W-UP Helico-
bacter
ulcers due to infection, con rmation of H. pylori eradication is rec- ulcer bleeding in the US pediatric population. J Pediatr Gsatroenterol
ommended in children, preferably with C-UBT. 12,26 Stool sampling Nutr
can be used for con rmation in small children in whom collecting
breath samples is dif cult. Based on adult studies, discontinue anti- gastroduodenal lesions in children with chronic renal failure on
-
12
PPIs, for at least 2 weeks prior to testing. ence. Eur J Gastroenterol Hepatol
H. pylori infection requires additional treatment.
H. pylori PUD with continued symptoms should Pediatrics.
be considered for maintenance antisecretory therapy.
PART 9
11. Anand BS, Bank S, Qureshi WA, et al. Peptic Ulcer D

ulcer disease in the US population. Dig Dis Sci
January 2013.
Helicobacter pylori infection in child-
hood. Eur J Pediatr -
dence or cofactors? Pediatrics
pylori infection on growth velocity of school-age Andean chil- -
dren. Epidemiology Clin Pediatr (Phila)
acquisition in infancy following decline of maternal passive 25. CheyWD, Wong BCY. Practice Parameters Committee of the
J Pediatr Gastroenterol Nutr. American College of Gastroenterology. American College of
Gastroenterology guideline on the management of Helicobacter
pylori infection. Am J Gastroenterol
children is infrequently associated with helicobacter pylori infec-
tion. J Pediatr Gsatroenterol Nutr Groups of ESPGHAN and NASPGHAN. Evidence-based guide-
16. Hassal E, Dimmick JE. Unique features of Helicobacter pylori lines from ESPGHAN and NASPGHAN for Helicobacter pylori
disease in children. Dig Dis Sci. infection in children. J Pediatr Gastroenterol Nutr
ulcer disease in children. Helicobacter

AA. Correlation of serum antibody titres with invasive methods
Am Fam Physi-
for rapid detection of Helicobacter pylori infections in symptom-
cian
atic children. Int J Exp Pathol
peptic symptoms in South China. Helicobacter

J R Soc Med
-
2-receptor
antagonist in the
treatment of peptic ulcer disease in children. J Pediatr Gastroenterol
from a population-based study. J Interpers Violence.
Nutr.
-
21. Aldoori WH, Giovannucci EL, Stampfer MJ, et al. A prospective
ated with infections, necrotizing enterocolitis and fatal outcome
study of alcohol, smoking, caffeine, and the risk of duodenal ulcer
in newborns. Pediatrics
in men. Epidemiology
PART 9
FO REIGN BO DY INGESTIO N THE GASTRO INTESTINAL TRACT AND 359
56 FO REIGN BO DY of ingested foreign bodies pass spontaneously without complica-

tion. Most children with an impacted foreign body have no under-
INGESTIO N
when it leads to impaction, particularly in the esophagus. Steak,
Eug e ne K. Vortia, MD hotdogs, and chicken are the primary cause of esophageal foreign
Lori A. Mahajan, MD body impaction in teenagers and adults.
PATIENT STO RY SYNO NYMS
A 2-year-old boy presented to his primary care physician’s of ce with

decreased oral intake and cough of 4 days duration. He had been very
irritable with a markedly decrease in intake of solids. He was seen in
an urgent care 2 days prior and was discharged home with a prescrip-
tion for an antibiotic but his symptoms did not improve. On exami-
nation, he had a low-grade fever with increased oral secretions and EPIDEMIO LO GY
transmitted upper airway sounds but no localized wheezing. A chest
radiograph performed to assess for pneumonia revealed a coin in the
proximal esophagus (Figure 56-1). Due to increased oral secretions
and the duration of symptoms, he was referred for immediate endos-
and adolescents. 1
copy. The coin was removed with ulceration of the underlying esoph-
ageal mucosa at the site of impaction noted. Oral intake soon
returned to normal. He was prescribed a 1-week course of sucralfate peak incidence between the ages of 6 months and 6 years. 2
with no long-term complications noted.
a complication rate of less than 1 percent.

INTRO DUCTIO N
remove them.
6 years of age.
Figure 56-2) is of particular concern

given the high risk of severe complications and possible death.
Figure 56-3) marketed as
adult desk toys, stress relievers, and science kits present the poten-
tial for serious complications when two or more are swallowed
within a short period of time.
-
rowing (strictures, surgical anastomoses, duodenal C-loop) or
physiologic sphincters (upper and lower esophageal sphincters,
pylorus, ileocecal valve).
ESO PHAGUS
FIGURE 56-1 Coin in the p roximal e sop hag us of a 2-ye ar-old b oy (AP
vie w). It was causing a coug h o ve r the p re vious 4 d ays. It was imp acte d
at the up p e r e sop hag e al sp hincte r. (Use d with p e rmission from where foreign bodies are most likely to become impacted in
Eug e ne Vortia, MD.) children:
PART 9
FIGURE 56-2 Button b atte rie s are commonly swallowe d b y child re n

and p re se nt a hig h risk of se ve re comp lications and p ossib le d e ath.
(Use d with p e rmission from Eug e ne Vortia, MD.)
~ Figure 56-4).
~ Figure 56-5). FIGURE 56-4 Late ral vie w of coin in p roximal e sop hag us. (Use d with
p e rmission from Eug e ne Vortia, MD.)
~ Figure 56-6).
STO MACH AND LO WER

GASTRO INTESTINAL TRACT the small or large intestine will pass without complications.
of cases. RISK FACTO RS

>2 cm in diameter or >6 cm in length are
not likely to make it past the pylorus or the duodenum and will
FIGURE 56-3 Rare e arth mag ne ts or Ne od ymium mag ne ts are p artic-

ularly d ang e rous whe n swallowe d , e sp e cially if more than one is swal-
lowe d within a short p e riod of time . (Use d with p e rmission from Ve ra FIGURE 56-5 End oscop ic vie w of coin imp acte d in mid -e sop hag us.
O kwu, MD.) (Use d with p e rmission from Katharine Eng , MD.)
PART 9
-
ing, and chest pain.
-
-
cent vascular structures has been reported.
-
monly associated with ingestion of button batteries, large sharp
with neck erythema, swelling, crepitus, or tenderness.
present in rare cases.
ingestion of foreign bodies composed of or coated with toxic sub-

stances such as lead.
IMAGING
ingestion should include biplane radiographs (posteroanterior and

FIGURE 56-6 Coin in lowe r e sop hag us (PA vie w). It was imp acte d at lateral) of the chest and abdomen to locate, enumerate and con rm
the lowe r e sop hag e al sp hincte r. (Use d with p e rmission from Katharine
Eng , MD.)
Figures 56-1, 56-4, and 56-6) most often
appear in a coronal alignment on a posteroanterior radiograph
on the lateral view.

-
testinal tract after foreign body ingestion:
~
may distinguish a disk battery from a coin (Figure 56-7).
~ Large foreign bodies (>2 cm in diameter or >6 cm in length).
~ carefully to assess for the presence of multiple magnets in close
I proximity which may mimic a single magnet (Figure 56-8).
I
re ux disease.
I Achalasia.
I
DIAGNO SIS
CLINICAL FEATURES
delayed diagnosis.
correlate with the area of discomfort in younger children.
type of foreign body ingested, the size and location of the foreign
body, and the duration of the impaction.
-
iting, choking, coughing, and respiratory distress.
pneumonias in young children may in some cases precede

identi cation of an esophageal foreign body during routine FIGURE 56-7 Rad iog rap h of a b utton b atte ry showing the “d oub le
radiography. contour” or “halo.” (Use d with p e rmission from Nisha Pate l, MD.)
PART 9
foreign body removal can be performed to decrease the risk of

aspiration.
-
tion is indicated:
~ Signs or symptoms of airway compromise.
~ -
low secretions.
~ Signs or symptoms of intestinal obstruction such as abdominal
pain or vomiting.
~
after presumed time of ingestion, or an unknown time of

ingestion.
~ Multiple magnet ingestions within a short time.
~
straight pins).
~ >6 cm).
-
FIGURE 56-8 Rad iog rap h showing two mag ne ts in close p roximity in
able to handle oral secretions may have the procedure delayed for
the small b owe l. It may not b e p ossib le to te ll if the y are attache d up to 24 hours.
across the b owe l wall or within the b owe l lume n. (Use d with p e rmission
from Ve ra O kwu, MD.)
radiograph immediately prior to endoscopic intervention if signi -
cant delay after initial assessment has occurred to establish that the
increased aspiration risk and the potential of complicating planned -

endoscopic procedures. >2 cm in diameter or >6 cm in length) and
DIFFERENTIAL DIAGNO SIS be managed with an expectant approach since they are likely to suc-
cessfully pass through the intestines and out the body without com-
plication.
There are numerous differential diagnoses that must be considered in
-
posing disorders may be brought to light after an ingested foreign persistent abdominal pain or vomiting develop as these may indi-
body has been retained in the gastrointestinal tract. These include: cate pyloric obstruction.
the stool by 4 weeks post-ingestion, repeat abdominal x-ray is rec-

esophageal foreign bodies on radiographs as previously discussed.
-
eign body is still present.
symptoms and fever are present.
SPECIAL SITUATIO NS
previous wheezing episode can be elicited.
Batte ry ing e stions
Figures 56-2 and 56-7) result in high rates of seri-
ous complications due to discharge of current and leakage of caustic
material. They must be immediately removed as esophageal perfora-
-
tion may occur within 4 hours or less of ingestion.
tions or when the history does not align with the ndings.
-
removal is indicated if the battery is still in the stomach.
MANAGEMENT Sharp fore ig n b od ie s

Figure 56-9) -
diate referral for consideration of surgical or endoscopic
oxygen if indicated. retrieval.
PART 9
FIGURE 56-9 Straig ht p in on ab d ominal rad iog rap h (PA vie w).
(Use d with p e rmission from Nisha Pate l, MD.)
navigate the gastrointestinal tract by peristaltic action without
Mag ne ts
complications and may be clinically followed. Care should be taken

to not mistake multiple magnets in close proximity as a single mag-
net (Figure 56-8).
each other through the bowel wall and causing pressure necrosis
for possible endoscopic or surgical intervention is, therefore, indi-

cated.
FIGURE 56-10 Larg e rad io luce nt fore ig n b od y ob structe d at the
Food imp action p ylorus. The rst vie w shows a he art shap e d p lastic toy ob structe d
at the p ylorus. The se cond vie w re p re se nts the vie w afte r e nd oscop ic
e xtraction o f the p lastic toy. (Use d with p e rmission from Eug e ne
- Vo rtia, MD.)
mended even if esophageal food impaction resolves spontaneously
due to the high rate of underlying pathology.
Non-rad io-op aq ue fore ig n b od ie s more information.

Figure
56-10) MEDICATIO NS
-
symptoms. cess in adults with foreign bodies impacted at lower esophageal
sphincter but this approach has not been uniformly successful in
to guide management. children. SO R
PART 9
through intestinal tract does not lead to an improved clinical out- FO LLO W-UP
come and is not recommended. SO R
contraindi-
cated
of the risk of late complications.
contraindi-
cated.
patients do not need further follow-up unless signi cant underlying
esophageal mucosal disease was identi ed at endoscopy.
SURGERY
-
servative therapy should be referred for specialist evaluation.
possible:
~ Multiple magnets attracting each other through the bowel wall
asymptomatic patients with gastric foreign bodies should monitor
are not able to traverse the gastrointestinal tract.
~ After ingestion of multiple sharp straight pins or other sharp
-
ther follow-up.
~
endoscopically removed. not passed in 4 weeks.
PATIENT RESO URCES

www
REFERRAL .naspghan.org/ user-assets/ Documents/ Magnet%20
- patient%20education%20handout%20with%
ist or referral center for retrieval. 20picture%20July%202012(3)%20%20(2).pdf.
-
ported to a referral center within 2 hours regardless of symptoms www.cpsc.gov/ info/ magnets/
in order to decrease the risk of serious complication. index.html.
www.safekids.org/ our-work/ blog/
magnet-poisoning.html.
emergently referred for consideration of endoscopic or surgical
retrieval. www.poison.org/ battery.

PREVENTIO N AND SCREENING -
www.poison.org/ battery/
guideline.asp.
www.naspghan.org/ user-assets/
Documents/ pdf/ Advocacy/ July%202012/ Magnet%20
rare earth magnets are kept away from children.
Ingestion%20One%20Pager.pdf.
-
cially if the eating pattern of a child abruptly changes.
Gastrointest Endosc.
their physician or proceed to the emergency room for further

evaluation. REFERENCES
-
PRO GNO SIS
ClinToxicol (Phila).
-
J Pediatr Surg
-
treatment but have a more guarded prognosis because of an ing battery ingestion hazard: Clinical implications. Pediatrics.
increased incidence of late complications.
PART 9
and pediatric subspecialists. J Pediatr Gastroenterol Nutr.

of reported incidents related to ingestion of small, strong magnets
Pediatr Emerg Care
Anderson MA, Appalaneni V: Management of ingested foreign

Curr Gastroenterol Rep bodies and food impactions. Gastrointest Endosc
-
dren and teenagers: an emerging health concern for pediatricians
PART 9
57 PYLO RIC STENO SIS

Skyle r Kalad y, MD
Ne il Vachhani, MD
PATIENT STO RY
Figure 57-1
INTRO DUCTIO N
RISK FACTO RS
SYNO NYMS
EPIDEMIO LO GY
DIAGNO SIS
CLINICAL FEATURES
FIGURE 57-1 A p e ristaltic wave was visualize d in this infant with Figure 57-1
p yloric ste nosis. (Use d with p e rmission from Cle ve land Clinic Child re n’s
Hosp ital Photo File )
PART 9
PYLO RIC STENO SIS THE GASTRO INTESTINAL TRACT AND 367
FIGURE 57-2 Transve rse ultrasound throug h the p ylorus showing

thicke ning of the muscular wall (re d marks). (Use d with p e rmission from FIGURE 57-4 Late ral vie w from an Up p e r GI e xamination shows a small
Ne il Vachhani, MD.) amount of b arium p assing throug h the p yloric channe l (arrow) known as
the “string sig n.” (Use d with p e rmission from Ne il Vachhani, MD.)
Figure 57-4
IMAGING Figure 57-5
Figures
57-2 57-3
FIGURE 57-5 Sup ine ante rop oste rior ab d ominal rad iog rap h shows a
FIGURE 57-3 Long itud inal ultrasound throug h the p ylorus showing g as lle d d iste nd e d stomach. Und ulation of the g astric contour, known
elongation of the pyloric channel (red dots) and thickening of the muscu- as the “cate rp illar sig n” (arrow) is d ue to g astric hyp e rp e ristalsis. (Use d
lar wall. (Use d with p e rmission from Ne il Vachhani, MD.) with p e rmission from Ne il Vachhani, MD.)
PART 9
REFERRAL
PRO GNO SIS
FO LLO W-UP
PATIENT EDUCATIO N
PATIENT RESO URCES

MANAGEMENT
SURGERY www.healthychildren.org/ English/ health-

4 SO R issues/ conditions/ abdominal/ Pages/ Infant-
Vomiting.aspx
www.nlm.nih.gov/ medlineplus/ ency/ article/ 000970.
4 SO R htm
SO R Semin Pediatr Surg.
REFERENCES
NO NPHARMACO LO GIC
Advances
in Pediatrics.
JAMA
MEDICATIO NS
Am J Epidemiol
PART 9
PYLO RIC STENO SIS THE GASTRO INTESTINAL TRACT AND 369
Surg Clin N Am
Pediatrics Surg Endosc
Pediatr
Res. Eur J Pediatr.
Evidence-Based Imaging: Optimizing Imaging in J Pediatr Surg.

Patient Care.
J Pediatr Surg J Pediatr

PART 9
58 INTUSSUSCEPTIO N
Allison W. Brind le , MD
Elle n Park, MD
John DiFiore , MD
PATIENT STO RY
An 11-month-old previously healthy male infant is brought to the

Emergency Department (ED) for a 1-day history of fussiness and
vomiting. His parents report that throughout the day he has had peri- A
ods of crying and has been inconsolable, drawing his knees in towards
his chest. Crying episodes last for about 20 minutes. Between epi-
sodes, he had been content. He then developed vomiting immediately
after an episode of crying. He passed a bowel movement that
appeared to have blood and mucus in the stool. He became more
lethargic between crying episodes and his parents have become quite
concerned. In the ED, he appeared moderately dehydrated, appeared
sleepy, and was noted to have tenderness on palpation of the abdo-
men. After stabilization with intravenous uids the physician ordered
an abdominal ultrasound, which was concerning for intussusception
(Figure 58-1A–C). The pediatric radiologist was able to reduce the
intussusception with an air enema under uoroscopic guidance. The
patient tolerated the procedure well and recovered completely.
B
INTRO DUCTIO N
Intussusception refers to the “telescoping” or invagination of one por-

tion of the intestine (the intussusceptum) into a more distal portion,
the intussuscipiens. It leads to an intestinal obstruction.
EPIDEMIO LO GY
3 months and 36 months.
less than 2 years of age. 1–3
- C
susception in infants who had received the tetravalent rhesus—
FIGURE 58-1 A. Intussusce p tion in an 11-month-old infant. Trans-
based rotavirus vaccination (RotaShield, Wyeth Laboratories, Inc., ve rse p lane ultrasound imag e s d e monstrate s a typ ical “targ e t sig n”
4
This vaccine was then taken off the market. with alte rnating conce ntric hyp oe choic and hyp e re choic b and s o f
intussusce p te d b owe l walls. B. Sag ittal p lane ultrasound imag e of
, a currently available intussusce p tion in the same p atie nt d e monstrating alte rnating laye rs of
pentavalent rotavirus vaccine, did not show an increased incidence hyp oe choic b owe l wall and hyp e re cho ic me se nte ry. C. O b liq ue sag ittal
of intussusception, and rotavirus immunization continues to be a p lane ultrasound imag e of intussusce p tion in the same p atie nt d e mon-
strate s a typ ical “p se ud okid ne y sig n” with hyp oe choic b owe l wall mim-
recommended immunization in the primary immunization series. 5,6 icking the ap p e arance of re nal corte x and hyp e re choic me se nte ry the
re nal sinus fat. (Use d with p e rmission from Elle n Park, MD.)
act as a lead point in idiopathic cases.

PART 9
INTUSSUSCEPTIO N THE GASTRO INTESTINAL TRACT AND 371
- I “Currant Jelly” Stools (containing gross blood and mucus) can

relation with common gastrointestinal viruses, such as adenovirus. be seen in up to 50 to 60 percent of patients.
I
enters the cecum. Ileoileocolic, colocolic, or small bowel-small bowel

intussusceptions have also been described, but are less frequent. PHYSICAL EXAMINATIO N FINDINGS
-
rounding mesentery is pulled with it. This leads to intestinal edema. the child may have alternating episodes of appearing well.
- -
ration, peritonitis, and death. rant may be palpated.
-
ticulum, polyp, cyst, hematoma, or lymphoma. IMAGING
-
ever, they can be used to guide the need for further imaging stud-
RISK FACTO RS ies. A study of the use of three view radiographs (supine, prone,
and left lateral decubitus views) showed that the presence of air in
the ascending colon on all 3 views of the series can decrease the
which acts as a lead point for intussusception. likelihood of intussusception in a patient with an otherwise low
-
inal surgery (Figure 58-2). -
Figure 58-1A–C).
of idiopathic cases.
in children who do not have intussusception and increase the likeli-
hood of successful reduction in those who do.
DIAGNO SIS
higher sensitivity for detection of lead points. However, because
CLINICAL FEATURES CT is not also a therapeutic modality (as is ultrasound) and because
~ Common historical features of intussusception are: study of choice.

ILethargy7
I - be both diagnostic and therapeutic.
ysms and can be quite severe.
I Emesis—Usually emesis begins as nonbilious. However, as the
disease progresses, bilious emesis can occur. DIFFERENTIAL DIAGNO SIS
have abdominal pain and diarrhea. However, the colicky character

of pain associated with intussusception as well as the development
bacterial enterocolitis look persistently ill between episodes of

cramps and diarrhea.
typically painless.
-
tion should also be considered. However, since most of these are
MANAGEMENT
FIGURE 58-2 Small b owe l-small b owe l p ost-op e rative intussusce p tion resuscitated patients is nasogastric decompression and emergent
(intussusce p tion within the small b owe l afte r p re vious ab d ominal sur-
g e ry). This was succe ssfully re d uce d in the op e rating room without
b owe l re se ction. (Use d with p e rmissio n from John DiFiore , MD.) 5 percent of patients.
PART 9
completed with either hydrostatic or pneumatic enema using peritonitis, sepsis/ shock, and free intraperitoneal air on
radiographs.
(Figure 58-3A–E). 10 SO R Ultrasound may be used to guide
the procedure as well. the bowel (overall rate of perforation is less than 1%), and in
A B
C D
FIGURE 58-3 A–E. Air contrast e ne ma re d uction of an ile ocolic intussusce p tion in an 11-month-old b oy ob taine d in p rone p osition. Intussusce p -
tion is initially d e monstrate d as a soft tissue mass (arrow) at the le ve l of the sp le nic e xure (A). With continue d air insuf ation, intussusce p tion is
se e n to move toward the ce cum, and air e ve ntually fre e ly re uxe s into the d istal ile um as the ile ocolic intussusce p tion is re d uce d (B–E). (Use d with
p e rmission from Elle n Park, MD). (continue d )
PART 9
INTUSSUSCEPTIO N THE GASTRO INTESTINAL TRACT AND 373
-
cessful reduction. Each recurrence can be managed as if it were
the initial instance. However, multiple recurrences may be associ-
ated with a pathologic lead point.
FO LLO W-UP
24 hours post reduction.
until bowel function has returned and the patient has had a bowel
movement.
PATIENT EDUCATIO N
E
young child warrants medical attention.
FIGURE 58-3 (Continue d )
and not associated with a lead point.
pneumatic reduction there is increased risk for tension pneumo-
peritoneum. surgical reduction.
SURGERY PATIENT RESO URCES

www.nlm.nih.gov/ medlineplus/ ency/ article/
non-operative therapeutic enema reduction in the event of perfora- 000958.htm.

intussusception.
000958.htm.
intussusception (Figure 58-2).
-
with perforation.
but more likely will be a resection with anastomoses. www.accesspediatrics.com/ videoplayer.aspx?aid

=8146025.
REFERRAL
medical center staffed with pediatric radiology and pediatric REFERENCES

surgery services.
Br J Surg.
PRO GNO SIS 2. Bines J, Ivanoff B. Acute Intussusception in Infants and Children
perforation, peritonitis, sepsis, and shock. and childhood. Br J Surg.

4. Intussusception Among Recipients of RotavirusVaccine–United
MMWR Morb Mortal Wkly Rep

PART 9
Vaccination–
MMWR imaging characteristics. Pediatr Emerg Care.
Morb Mortal Wkly Rep
-
intussusception following administration of a pentavalent rotavirus tussusception. Pediatr Emerg Care.
vaccine in US infants. JAMA
Success with hydrostatic reduction of intussusception in
Children Being evaluated for Intussusception. Pediatrics. relation to duration of symptoms. Arch Dis Child.
1071-1072.
PART 9
INFLAMMATO RY BO WEL DISEASE THE GASTRO INTESTINAL TRACT AND 375
59 INFLAMMATO RY EPIDEMIO LO GY
BO WEL DISEASE -
Nisha Pate l, MD cantly increasing in prevalence and incidence worldwide over the
Naim Alkhouri, MD past few decades. 1
US and 2.2 million persons in Europe suffer from these diseases. 2

More than 20 percent of patients present during childhood and
PATIENT STO RY
diagnosed before the age of 10 years and fewer than 5 percent diag-
nosed before age 5 years. 3
A 12-year-old female presents with cramping abdominal pain, a ten 3
pound weight loss, diarrhea, and bloody stools. Physical examination
is remarkable for oral aphthous ulcers, mild right lower quadrant ten-
derness, and perianal skin tag at six o’clock position. Further labora-
tory work up reveals anemia (hemoglobin 7.2 g/ dL) and elevated ETIO LO GY AND PATHO PHYSIO LO GY
erythrocyte sedimentation rate (41 mm/ hr). She was referred to
pediatric gastroenterology and underwent an esophagogastroduode-
noscopy and colonoscopy, which was visually and histologically tract and encompasses two entities: CD and UC.
remarkable for gastritis, duodenitis, pan-colitis, and terminal ileitis -
(Figure 59-1 and 59-2). She was diagnosed with Crohn disease. tion between a genetic predisposition, defects of host immunoreg-
ulation, environmental factors, and an imbalance in the intestinal
microbiota (dysbiosis). Dysbiosis (also called dysbacteriosis) is
INTRO DUCTIO N considered crucial for the development of chronic intestinal
in ammation.
In ammatory bowel disease (IBD) refers to two chronic conditions of
the gastrointestinal tract: Crohn disease (CD) and ulcerative colitis
(UC), that frequently have their presentations in the late childhood RISK FACTO RS
and adolescence. IBD is one of the most common chronic diseases of
childhood and adolescents. -
SYNO NYMS UC or CD have a 10 to 13 times higher risk for developing IBD.4
Crohn’s Disease, Ulcerative Colitis (UC), Indeterminate Colitis. CD and nearly 20 percent for UC. 5
A B
FIGURE 59-1 A. Normal te rminal ile um. Note the Pe ye r’s p atche s and nod ularity. B. Crohn ile itis. Note the e d e matous mucosa with ap hthous
ulce rations and mucop urule nt e xud ate . (Use d with p e rmission from Nisha Pate l, MD.)
PART 9
A B
FIGURE 59-2 A. Normal colonic mucosa is shiny, with normal fold s and normal vascular p atte rn. B. Se ve re Cro hn d ise ase with d e e p ulce rations,
e rythe ma, friab ility, and p atchy cob b le stoning p atte rn with e xud ate s. (Use d with p e rmission from Nisha Pate l, MD.)
TABLE 59-1 Extrainte stinal Manife stations of IBD

NOD2/ CARD15 gene,
located on chromosome 16q has been associated with CD. Live r Nonsp e ci c e le vation of aminotransfe r-
ase s, autoimmune he p atitis, p rimary
60 percent of patients who have CD. scle rosing cholang itis (UC > CD)
(Fig ure 59-5), chole lithiasis, fatty live r
approximately 70 percent of patients with UC. d ise ase
Joints Arthralg ias, arthritis (Fig ure 59-6),
DIAGNO SIS ankylosing sp ond ylitis, sacroiliitis
Skin Erythe ma nod osum (Chap te r 152), p yo-
CLINICAL FEATURES d e rma g ang re nosum (Fig ure 59-7),
- ap hthous ulce rs (Chap te r 40)
toms of CD are: Eye Uve itis (Chap te r 13), e p iscle ritis,
~
ke ratitis
the right lower quadrant.
~ Diarrhea (urgency, tenesmus, and nighttime awakening for Bone Dig ital club b ing (hyp e rtrop hic
bowel movements). oste oarthrop athy), oste op e nia,
~ Weight loss. oste op orosis, ase p tic ne crosis
~ Recurrent aphthous-stomatitis. Pancre as Acute p ancre atitis
~
~ Re nal Ne p hrolithiasis (oxalate stone s)

He matologic Ane mia (iron d e cie ncy, folate de -
abdominal cramping associated with fecal urgency. cie ncy, vitamin B12 d e cie ncy, or
- autoimmune he molytic ane mia),
ifestations prior to manifesting intestinal symptoms (Table 59-1). thrombocytosis, thromb ocytope nic
purpura
DISTRIBUTIO N Vascular Hyp e rcoag ulab ility (thromb osis, throm-
b op hle b itis, thromb oe mb olism)
mouth to anus. It predominately affects the distal ileum and colon
End ocrine Growth failure , p ub e rtal d e lay
-
mation is typically transmural and can be associated with intestinal Malig nancy Dysp lasia, incre ase d risk of colon cance r
O the r Re curre nt fe ve rs, malaise , anore xia
PART 9
A B
FIGURE 59-3 A. Normal colon. B. Se ve re ulce rative colitis. Note the continuous p atte rn of e rythe ma, loss of vascularity, sup e r cial ulce rations
and e xud ate with friab ility in are as of e nd oscop e contact. (Use d with p e rmission from Nisha Pate l, MD.)
which is not accessible routine endoscopy.

abscesses are common in UC (Figure 59-3).
ENDO SCO PY
-
LABO RATO RY STUDIES copy with biopsy is gold standard for diagnosing IBD.
(Figure 59-8).
albumin.
Clostridium dif cile, ova, & parasite) to DIFFERENTIAL DIAGNO SIS
exclude infectious etiologies, fecal calprotectin, and lactoferrin.
Salmonella,
C (outer membrane protein of Escherichia coli). Shigella, Campylobacter, Escherichia coli 0157:H7, Yersinia, and
~ IBD serologic panels are not recommended for screening or
as an isolated diagnostic tool. False-positive results can create

unwarranted anxiety and lead to excessive invasive testing. It
should be noted that nearly 1/ 3 of patients who have a
positive serologic panel do not have IBD. Serologic panels are
most useful in children who have indeterminate colitis to
differentiate CD from UC. 1
IMAGING
abnormal separation of bowel loops

Figure 59-4
Can assess for intestinal wall thickening and acute complications
disease.
FIGURE 59-4 CT scan sho wing transmural thicke ning of the te rminal
greater than 90 percent sensitivity ile um in a p atie nt with Crohn d ise ase . (Use d with p e rmission from
Nisha Pate l, MD.)
PART 9
A B
FIGURE 59-5 Mag ne tic re sonance cholang iop ancre atog rap hy (MRCP): Primary Scle rosing Cholang itis (PSC). Typ ical symp toms includ e chronic
fatig ue , anore xia, p ruritus, and jaund ice . Ele vate d g ammag lutamyltransp e p tid ase and alkaline p hosp hatase value s along with re sults of cholang iog -
rap hy and live r b iop sy he lp con rm the d iag nosis. Note the are as of intrahe p atic b ile d uct stricture s alte rnating with normal-calib e r d ucts (A) forming
a “b e ad e d ap p e arance ” (B). Close -up of the b iliary tre e showing same “b e ad ed ” ap p e arance . (Use d with p e rmission from Nisha Pate l, MD.)
Aeromonas
and are not associated with growth failure. and small intestine but can extend to the colon. Peripheral eosino-
(Clostridium dif cile) philia and biopsy of the bowel can differentiate this from IBD.
with antibiotic use and produces more acute symptoms.
- of the presence of palpable purpura and arthritis (see Chapter 179,
tic infection in immunocompromised hosts and can be differenti- Henoch Schonlein Purpura).
ated from IBD based on epidemiology and pathology.
hemolytic anemia, thrombocytopenia and acute renal failure (see
Chapter 69, Hemolytic Uremic Syndrome).
associated periodic syndrome) and PFAPA (periodic fever,
can be common (see Chapter 176, Periodic Fever Syndromes).

-
atric IBD, such as weight loss, malaise, recurrent fevers, and joint
involvement.
-
entiate. Intestinal tuberculosis typically involves the ileocolonic
region, and the ulcerative form is most common. A patient who
has risk factors for tuberculosis should have a tuberculin skin test
placed.
MANAGEMENT
FIGURE 59-6 Se rone g ative sp ond yloarthrop athy in the ankle of a
p atie nt with Crohn d ise ase . Note the swe lling (arrow) of the le ft ankle
that is a d ue to joint e ffusion and e nthe sop athy. (Use d with p e rmission
from And re w Ze ft, MD.)
PART 9
A B
FIGURE 59-7 Pyod e rma g ang re nosum (PG) is a rare noninfe ctious ne utrop hilic d e rmatosis which starts as a ste rile p ustule that rap id ly p rog ress
and turns into p ainful ulce rs of variab le d e p th and size with violace ous b ord e rs. Lowe r e xtre mitie s are most commonly affe cte d . A. A small ulce r is
b are ly visib le within the violace ous are a on the foot in this e arly case of PG. B. Visib le ulce r on the lowe r le g in PG. (Use d with p e rmission from
Michae l J. Nowicki, MD.)
-
cancer). cylic acid (5-ASA) agents. SO R
-
NO NPHARMACO LO GIC ally effective in establishing remission but are not effective in main-
taining remission. 7, 8 SO R
of polymeric or elemental diets, and may result in remission of dis-
ease. 6 concurrent joint symptoms. SO R
often limiting the response of diet therapy alone.

disease and as maintenance therapy. SO R
MEDICATIO NS
- the management is not clear. SO R

lates (5-ASA), immunomodulators, biologic agents, antibiotics, and -
probiotics (see Table 59-2). imab (given as intravenous infusions), have been shown to be highly
effective in achieving clinical improvement and remission and are
9 SOR
SURGERY
control the in ammatory conditions despite optimal medical man-

agement, intestinal perforation, abscess, bowel obstruction,
10
symptoms and treating disease complications.
when optimal medical management fails or when there are complica-

tions of disease, such as bleeding, perforation, or toxic megacolon.
FIGURE 59-8 Noncaseating g ranulomas on histopatholog y is d iagnostic

of Crohn d ise ase . (Use d with p e rmission from Thomas Ple se c, MD.) (especially with long term systemic steroids).
PART 9
TABLE 59-2 Manag e me nt of In ammatory Bowe l Dise ase
Me d icat io n Class Ind icat io ns Ad ve rse Effe ct s

Aminosalicylate s (Me salamine , Mild CD and mild to mod e rate UC He ad ache , arthralg ias, fe ve r, rash,
Sulfasalazine ) p hotose nsitivity, b lood y d iarrhe a
Corticoste roid s (Pre d nisone , Pre d nisone : ind uction of re mission for Cushing oid facie s, we ig ht g ain,
Me thylp re d nisolone , mod e rate to se ve re CD or UC acne , stre tch marks, g rowth sup -
Bud e sonid e ) Bud e sonid e : mild to mod e rate ly active CD p re ssion, oste op e nia, hyp e rte n-
involving the ile um and asce nd ing colon sion, hyp e rg lyce mia, cataracts
Ene mas or sup p ositorie s: d istal UC
Immunomod ulators (Azathio- AZA or 6-MP: ind uction of re mission and Le ukop e nia, e le vate d aminotrans-
p rine , 6-me rcap top urine , mainte nance the rapy for mode rate to se ve re fe rase s, p ancre atitis, incre ase d
Me thotre xate ) CD or UC, ste roid d e p e nd e nt/re fractory risk of infe ctions
MTX: ind uction of re mission and mainte nance
the rap y for CD
Antib iotics (Me tronid azole , Fistulizing d ise ase with p e rianal ab sce sse s, Pe rip he ral ne urop athy, nause a
Cip ro oxacin) p ouchitis
Prob iotics (Lactob acillus GG, Ad juvant the rap y None
Saccharomyce s b oulard ii)
Biolog ic the rap y (In iximab , Ind uction of re mission and mainte nance the r- Acute or d e laye d hyp e rse nsitivity
Ad alimumab , Ce rtolizumab ) ap y for mod e rate to se ve re CD or UC who re actions, se rious infe ctions,
are ste roid d e p e nd e nt/re fractory or have re activation of TB or histop las-
faile d immunomod ulator the rap ie s or with mosis or varice lla, malig nancy
se ve re stula (includ ing fatal lymp homa),
autoimmune d ise ase s
Anti-inte g rin (Natalizumab ) Ind uction of re mission and mainte nance Prog re ssive multifocal le ukomalacia
the rap y for mod e rate to se ve re CD
Surg e ry Re fractory to me d ical the rap y, small b owe l
ob struction, g astrointe stinal he morrhag e ,
p e rforation or d ysp lasia
PATIENT EDUCATIO N
immunomodulators, biologics) should follow routine vaccination
schedule.
evaluation by a gastroenterologist.
importance in achieving a sustained response.

compromised patients. Killed vaccines can be given according to
recommended schedules. PATIENT RESO URCES
PRO GNO SIS www.ccfa.org.

www.webmd.com/ ibd-crohns-disease/ crohns-
disease/ in ammatory-bowel-syndrome.
than half at 2 years after initiation of therapy. www.gastro.org/ patient-
center/ digestive-conditions/ in ammatory-bowel-
risk depends on the extent and duration of the disease. disease# In ammatory Bowel Disease.
FO LLO W-UP Pediatrics in
Review 2011;32:14.
www.cdc.gov/ ibd.
8 years after initial diagnosis and 1 to 2 years thereafter.
PART 9
REFERENCES
Pediatrics in for pediatric patients with in ammatory bowel disease: a clinical
Review. 2011;32;14. -
J Pediatr Gastroenterol Nutr.
2. Loftus EV, Jr: Clinical epidemiology of in ammatory bowel
2004;39:15-27.
disease: Incidence, prevalence, and environmental in uences.
Gastroenterology. 2004;126:1504-1517. -
steroids for induction of remission in Crohn’s disease. Cochrane
Database Syst Rev. 2008;16:CD006792.
clinical characteristics of children with newly diagnosed in am-
matory bowel disease in Wisconsin: a statewide population-based
study. J Pediatr. 2003;143:525-531. induction of remission in Crohn’s disease. Cochrane Database Syst
Rev. 2008;16:CD000296.
JJ. Age and family history at presentation of pediatric in ammatory
bowel disease. J Pediatr Gastroenterol Nutr. 2003;37:609-613. maintenance of remission in Crohn’s disease. Cochrane Database
Syst Rev. 2008:CD006893.
-
tory bowel disease in a Swedish twin cohort: a long-term
follow-up of concordance and clinical characteristics. of Crohn’s disease in childhood. Semin Pediatr Surg. 1994;3:
Gastroenterology. 2003;124:1767-17736. 19-27.
PART 9
60 CELIAC DISEASE SYNO NYMS

Jonathan Mose s, MD
Celiac Sprue; Gluten Enteropathy; Gluten-sensitive Enteropathy;
Tara Harwood , MS, RD, CSP, LD
Nontropical Sprue.
A 2-year-old male presents with weight loss. The mother states his -
pediatrician rst noticed impaired growth around 12 months of age. rect historical view that celiac disease was limited to the Caucasian
The mother also noticed his abdomen looked more distended over population. 1
the last few months and he is more irritable than usual. She describes 2
a vague history of looser stools without overt hematochezia. Pediatric ~
gastroenterology was consulted and sent blood work which was ~
remarkable for mild anemia and positive anti-tissue transglutaminase ~
immunoglobulin A antibodies (TTG IgA). The patient underwent an ~
upper endoscopy with biopsies, which was visually remarkable for ~
erythematous duodenal mucosa with scalloping of the intestinal folds

-
tion, as illustrated by the “celiac iceberg” (Figure 60-4).
Histology demonstrated increased intra-epithelial lymphocytes
(IEL) with villous blunting, con rming the diagnosis of celiac disease
(Figure 60-3). The patient was placed on a gluten free diet and has
had improved growth and normalization of laboratory values. ETIO LO GY AND PATHO PHYSIO LO GY
INTRO DUCTIO N of gluten containing foods (wheat, barley, and rye) in genetically
susceptible individuals.
Celiac disease is an autoimmune disorder related to the ingestion of
gluten containing foods in genetically susceptible individuals. If
unrecognized and untreated celiac disease can result in gastrointesti- ~ More than 95 percent of patients with celiac disease have the
nal symptoms, growth disturbances, and potential long-term compli- HLA-DQ2 heterodimer, with the remainder positive for the
cations.
FIGURE 60-2 End oscop ic nd ing s of nod ularity in ce liac d ise ase . The
FIGURE 60-1 End oscop ic nd ing s of scallop ing in ce liac d ise ase . d uod e nal mucosa shows a d iffuse , nod ular p atte rn which is an ab nor-
Note the notching of the mucosal fold s (re d circle ). The mucosal mality found in ce liac d ise ase . The re is also sig ni cant e rythe ma of the
surface also d e monstrate s a mosaic p atte rn found in ce liac d ise ase . d uod e nal mucosa d ue to the in ammation. (Use d with p e rmission from
(Use d with p e rmission from Jonathan Mose s, MD.) Jonathan Mose s, MD.)
PART 9
CELIAC DISEASE THE GASTRO INTESTINAL TRACT AND 383
A B
FIGURE 60-3 Histolog ical nd ing s in ce liac d ise ase . A. Marsh g rad e I chang e s with incre ase d intrae p ithe lial lymp hocyte s and intact villi. B. Marsh
III chang e s with incre ase d intrae p ithe lial lymp hocyte s, cryp t hyp e rp lasia, and villous atrop hy. (Use d with p e rmission from Tho mas Ple se c, MD.)
~ Presence of the HLA-DQ2 molecules does not necessarily

RISK FACTO RS
possesses this genetic background, without developing celiac
disease. -
ing of celiac disease. These disorders with associated prevalence
~
~ Deamidation of the gluten proteins by tissue transglutamine 2 ~
(TG2) and formation of an antigen complex, which includes ~
~
~ This antigen complex is presented to T cells, which become acti- ~
vated T cells and release antibodies to TG2 and gliadin peptides, ~
along with pro-in ammatory cytokines.
relatives of patients with established celiac disease.
DIAGNO SIS
CLINICAL FEATURES
with growth issues, irritability, and diarrhea. The clinical presen-

tation of celiac disease has evolved over time as the diagnosis has
become better recognized and testing more ubiquitous, with it
being diagnosed across all ages.
FIGURE 60-4 The “ce liac ice b e rg ” as an illustration of the various

manife stations of ce liac d ise ase . The top le ve l re p re se nts symp tomatic
~ Diarrhea.
p atie nts with typ ical mucosal le sions. The mid d le le ve l re p re se nts ~
asymp tomatic p atie nts with typ ical mucosal le sions. The b ottom le ve l ~ Abdominal pain.
re p re se nts asymp tomatic p atie nts with normal mucosa who will like ly
d e ve lop ce liac d ise ase at some p oint in the ir life time . The common
~ Vomiting.
d e nominator is the g e ne tic p re d isp osition of HLA-DQ 2 and DQ 8. ~ Constipation.
(Provid e d b y The NASPGHAN Found ation for Child re n’s Dig e stive ~ Anorexia.
He alth and Nutrition and the North Ame rican Socie ty for Pe d iatric
Gastroente rology, He p atolog y and Nutrition. www.nasp g hanfound atio n
~ Abdominal distention.
.org and www.nasp g han.org .) ~ Malnutrition.
PART 9
and electrolyte abnormalities, and hypoproteinemia. It is consid-

ered a life-threatening syndrome. 1
complete blood count (CBC) and hypoalbuminemia on metabolic

panel.
~ Anti-endomysium IgA and IgG antibodies (EMA IgA and IgG).

~ Anti-deamidated gliadin IgA and IgG antibodies (DGA IgA and
FIGURE 60-5 De rmatitis he rp e tiformis, an e xtrainte stinal manife station
of ce liac d ise ase . This is characte rize d b y a ve sicular to p ustular rash on IgG).
an e rythe matous b ase . This le sion is symme tric and rare ly asymp tom- ~ Anti-gliadin IgA and IgG antibodies (AGA IgA and AGA IgG).
atic, as p atie nts p re se nt with se ve re p ruritus. Corre late s we ll with villous
atrop hy on e nd oscop y, b ut ove rt g astrointe stinal symp toms may not b e -
p re se nt. (Use d with p e rmission from Janine Sot, Cle ve land Clinic.) tory testing when the TTG IgA results are unclear. 1
IgG performing the best. 1,9

~ Dermatitis herpetiformis (Figure 60-5).
recommended for screening purposes.
~ Dental enamel hypoplasia of permanent teeth (Figure 60-6).
~ Osteopenia/ osteoporosis.
~ Short stature. cases of uncertain diagnosis. There may also be a role in at-risk
~ Delayed puberty. populations to eliminate frequent screening, if both HLA DQ2 and
~ Iron de ciency anemia unresponsive to oral supplementation.
~ Hepatitis.
~ Arthritis. ENDO SCO PY
~ Epilepsy with occipital calci cations.
- endoscopy with small bowel biopsies, speci cally from the
erally fall into the at-risk population, along with rst-degree rela- duodenum.
tives of patients with celiac disease.
~ Scalloping (Figure 60-1).
~ Mosaicism (Figure 60-1).
~ Nodularity (Figure 60-2).
~ Erythematous mucosa (Figure 60-2).
~
~ Presence of intraepithelial lymphocytes (Figure 60-3).

~ Villous atrophy (Figure 60-3).
~ Crypt hyperplasia (Figure 60-3).
to con rm the diagnosis of celiac disease.
Giardia lamblia—may manifest with

similar symptoms but can be ruled out with appropriate testing of
FIGURE 60-6 De ntal e name l d e fe cts, anothe r e xtrainte stinal manife s- stool and by microscopic examination of the small intestine
tation o f ce liac d ise ase . This g e ne rally involve s the se cond ary d e ntition
and may b e the only p re se nting sig n of ce liac d ise ase . (Provid e d b y
The NASPGHAN Found ation for Child re n’s Dig e stive He alth and
Nutrition and the North Ame rican So cie ty for Pe d iatric Gastroe nte rol-
og y, He p atolog y and Nutrition. www.nasp g hanfound ation.org and related to ingestion of large amounts of uids and not associated
www.nasp g han.org .) with growth disturbances.
PART 9
CELIAC DISEASE THE GASTRO INTESTINAL TRACT AND 385
TABLE 60-1 List of Grains Allowe d and Not Allowe d As Part of a

associated with more severe symptoms and possible extraintesti- Glute n Fre e Die t
nal manifestations (see Chapter 59, In ammatory Bowel Allo we d No t Allo we d
Disease).
malt vine g ar are usually mad e
the small intestine. from b arle y)
as lymphadenopathy and recurrent infections early in life.
be differentiated by history, laboratory, and histopathology of celiac

disease.
from nuts,
b e ans, and
eosinophilia and eosinophilia on histopathology of the small intes-
se e d s
-
guished by appropriate laboratory and histopathologic work-up for
celiac disease.
recurrent infections.
MANAGEMENT
NO NPHARMACO LO GIC
treatment of celiac disease. SO R
oats is less clear due to concerns of gluten contamination during

and rye )
processing.
a complete list in Table 60-1. 11

and starch)
SO R
11
SCREENING
~ Prescription and over-the-counter medications.
see Risk
~ Lipstick.
Factors), along with rst-degree relatives of patients with estab-
~ Candy.
lished celiac disease.
~ Communion wafers.
~ Beer and lagers.
~ Playdoh (proper hand washing advised, does not pass through PRO GNO SIS
skin).
~ Soy sauce.
~ Luncheon meats. have a normal life expectancy.
~ Gloss and balms.
~ Osteoporosis. 1
REFERRAL ~ Increased risk of gastrointestinal malignancies. 12
-
nal symptoms, in the at-risk groups, or with rst degree relatives
who have established celiac disease should be screened with a FO LLO W-UP
TTG IgA and total IgA level. If positive for TTG IgA with normal
total IgA levels, clinical suspicion persists despite negative TTG
IgA, or if IgA de cient, referral to a pediatric gastroenterologist is
warranted. monitor compliance with the gluten free diet.
PART 9
REFERENCES
without symptoms, follow-up is every 1 year with the pediatric N Engl J Med.
-
~ Assessment of growth.
~
lence, diagnosis, pathogenesis and treatment. World J. Gastroenterol.
~ Monitoring for associated conditions, such as osteoporosis or
autoimmune thyroid disease. 1
the North American Society of Pediatric Gastroenterology, Hep-

PATIENT EDUCATIO N atology, and Nutrition. J. Pediatr. Gastroenterol. Nutr.
of Pediatric Gastroenterology, Hepatology, and Nutrition guide-

their current diet and not implement a gluten free diet before con- lines for the diagnosis of celiac disease. J. Pediatr. Gastroenterol.
sultation with the pediatric gastroenterologist. Initiation of a gluten Nutr.
free diet prior to diagnostic endoscopy can lead to false negative -
results on biopsy specimens.
dietitian to review institution of a gluten free diet.

Nat. Genet.
PATIENT RESO URCES
Celiac Disease: A Hidden Epidemic. New York, Curr Opin Gastroenterol.
NY: Harper Collins; 2010.
www.glutenfreediet.ca. in at-risk and not at-risk groups in the United States. Arch. Intern.
Kids with Celiac Disease: A Family Guide to Raising Happy, Med.
Healthy, Gluten-free Children. Bethesda: Woodbine House; 2001. 9. Lef er DA, Schuppan D. Update on Serologic Testing in Celiac
Living Gluten-Free for Dummies. 2nd edition. Hoboken; Disease. Am. J. Gastroenterol.
Wiley Publishing; 2010.
PRO VIDER RESO URCES pathologists. Eur. J. Gastroenterol. Hepatol.

s—www.gikids.org/ content/ 3/ en/ Celiac-Disease. 11. North American Society for Pediatric Gastroenterology,
Campaign—www.celiac.org.
www.naspghanfoundation.org.
-
www.naspghan.org.
matitis Herpetiformis. Gastroenterology.
PART 9
NEO NATAL CHO LESTASIS THE GASTRO INTESTINAL TRACT AND 387
61 NEO NATAL CHO LESTASIS INTRO DUCTIO N

Katharine Eng , MD
Naim Alkhouri, MD
life.
physiologic jaundice and breast milk
jaundice, characterized by unconjugated hyperbilirubinemia, which can
PATIENT STO RY spontaneously resolve.
A 4-week-old full-term female is seen for routine follow-up with concerning and requires urgent investigation to differentiate uncon-
her pediatrician. Her mother reports that she has been taking breast jugated hyperbilirubinemia from the less frequent, but pathological
milk well with good weight gain. She has no speci c concerns; how- and more serious condition of cholestatic jaundice.
ever does report she noticed lighter colored stools recently. On
Cholestatic jaundice is characterized by the elevation of conjugated
physical exam, jaundice and scleral icterus are noted, along with
bilirubin, indicating impaired hepatobiliary function.
dark urine in her diaper. The pediatrician orders labs drawn
urgently and calls the pediatric gastroenterologist for immediate -
assistance. The work-up is expedited and she is found to have biliary
atresia (Figures 61-1 and 61-2). The Kasai portoenterostomy pro-
cedure is performed to treat the cholestatic jaundice. This surgery
involves exposing the porta hepatis and attaching part of the small detection by the primary care physician with prompt referral to a
intestine to the exposed liver surface to allow bile to drain out of pediatric gastroenterologist to ensure timely diagnosis and appro-
the liver into the intestines. priate treatment for a favorable prognosis.
FIGURE 61-1 Biliary atre sia on a he p atob iliary nucle ar scintig ram. Se le cte d static imag e s of the ab d ome n and p e lvis se e n he re show g ood up take
of Tc-99m me b rofe nin rad iotrace r in the live r (larg e arrow); howe ve r, the re is no e vid e nce of e xcre tio n into the b iliary tre e , g allb lad d e r, or inte stine s.
Imag e s are take n at 1 min (A), 15 min (B), 30 min (C), 60 min (D), 4 hrs (E), and 24 hrs (F) afte r trace r inje ction. The re is e xcre tion into the b lad d e r
(small arrow) via the kid ne ys from b ackup of trace r in the b lood p ool. Lack of b owe l visualization on 24-hour imag e s is sug g e stive of b iliary atre sia.
(Use d with p e rmission from Shyam Srinivas, MD.)
PART 9
FIGURE 61-2 Biliary atre sia on a live r b iop sy. The typ ical chang e s se e n
o n live r b iop sy (he mato xylin and e osin stain) in a p atie nt with b iliary
atre sia. Note the characte ristic p ortal e d e ma, marke d b ile d uctular
p rolife ration, and chronic chole static chang e s to the p e rip ortal he p ato-
cyte s. In the inse t, d uctular chole stasis can b e ap p re ciate d with b ile
d uct p lug g ing (arrow). (Use d with p e rmission from Thomas Ple se c, MD.) FIGURE 61-3 Scle ral icte rus, or ye llowing o f the conjunctiva of the
e ye , in a p e d iatric p atie nt with hyp e rb ilirub ine mia. (Use d with
p e rmission from Naim Alkhouri, MD.)
cholestasis can be crucial, and in particular, timely surgical manage- DIAGNO SIS
ment of extra-hepatic biliary obstruction is of paramount importance.
CLINICAL FEATURES
SYNO NYM icterus (Figure 61-3

Hepatomegaly can also be found on exam.
loss, intracranial hemorrhage, bleeding from umbilical stump, or

bruising as a result of a coagulopathy from poor hepatic synthetic
EPIDEMIO LO GY function and vitamin K de ciency.
Figure 61-4) and edema can also be seen in the setting of
impaired hepatic function with advanced disease such as cirrhosis.
infants. Splenomegaly may be found in the setting of advanced disease, but
can also be found in the presence of infection.
common cause being biliary atresia. -
ing on the underlying etiology.
3
~ and asymptomatic until later in their disease progression

~
metabolic disorders such as galactosemia and tyrosinemia, but also

~ may be a sign of generalized infections causing cholestasis.
~
3,4
with low birth weight, microcephaly, chorioretinitis, and purpura.
~
Figure 61-5), heart murmur, and
anomalies of vertebrae, eyes, and kidneys may be found in Alagille
syndrome.
ETIO LO GY
LABO RATO RY STUDIES3
-
cytes or obstruction of bile ow through the intra- or extrahepatic Initial lab oratory stud ie s
biliary tree. This can lead to accumulation of biliary substances in
the liver, extrahepatic tissue, and blood. to establish the presence of cholestasis, along with a total bilirubin.
PART 9
-
virus, or HIV).
-
ferase activity).
hypopituitarism).
familial intrahepatic cholestasis).
IMAGING
cholestasis, such as the presence of gallstones, sludge in biliary tree

or gallbladder, or choledochal cyst. A small or absent gallbladder
would be suggestive (but not diagnostic) of biliary atresia, how-
FIGURE 61-4 Ascite s with ab d ominal d iste ntion is visib le he re in a ever, the presence of the gallbladder does not exclude biliary
7-month-old fe male with history of b iliary atre sia, with a now failing
Kasai p ortoe nte rostomy. A small incisional scar and incisional he rnia atresia.
are note d in the rig ht up p e r q uad rant re g ion of he r ab d ome n from he r
p rior p roce d ure . (Use d with p e rmission from Naim Alkhouri, MD.)
atresia from nonobstructive causes of cholestasis. While hepatobili-
ary scintigraphy has a high sensitivity for biliary atresia, it is impor-
tant to note that the speci city is low, thus diagnosis should not be
serum glucose levels, or coagulation studies (partial made solely on this test (Figure 61-1). 6
factor levels). INVASIVE TESTS
gamma glutamyl transferase. diagnostic procedure in the evaluation of neonatal cholestasis

(Figures 61-2 and 61-6). 6
-
atory laparotomy and intra-operative cholangiography should be
performed.
O BSTRUCTIVE CHO LESTASIS
critical to identify as early as possible.
manifest with cholestasis and diagnosed with imaging.
variable expression is associated with abnormalities in liver, heart,

skeleton, eye, kidneys, and with distinct facial features (Figure 61-5).
FIGURE 61-5 Alag ille synd ro me in a 3-ye ar-old g irl with the classic
d ysmorp hic facial fe ature s. Note the p romine nt fore he ad , straig ht nose
with atte ne d tip , d e e p -se t e ye s, and p ointe d chin. (Use d with p e rmis-
sion from Naim Alkhouri, MD.) Fibrosis).
PART 9
from the liver.

~
and biliary tract.

~
and biliary tract.
in the neonatal intensive care unit receiving parenteral nutrition

for various reasons.
~
or medications used by the mother or the infant.
MANAGEMENT
FIGURE 61-6 Alp ha-1-antitryp sin on a live r b iop sy. A PAS with d iastase
stain has b e e n p e rfo rme d o n this live r b io p sy sp e cime n in a p atie nt
with alp ha-1-antitryp sin d e cie ncy. Note the p re se nce of PAS-p ositive critical, and prompt referral to a pediatric gastroenterologist for
d iastase -re sistant p ink p e rip ortal intracytop lasmic g lob ule s (arrows),
which is characte ristic o f this d ise ase . (Use d with p e rmissio n fro m
further work-up is necessary.
Tho mas Ple se c, MD.) -
diately when evaluating a neonate with cholestasis.
defects; more frequently associated with polycystic kidney disease on the underlying diagnosis, and it is important to identify those
diseases that are amenable to early surgical intervention (e.g.,
biliary atresia, choledochal cyst) or speci c medical therapy
HEPATO CELLULAR CHO LESTASIS (e.g., hypothyroidism, galactosemia, infections).
but without a speci c etiology found. Observational evidence and expert recommendations suggest that
~ age have the greatest likelihood of re-establishing bile ow and lon-

of liver disease in children. ger term survival of their native liver. SO R Some studies do
~ suggest that there is no contraindication to performing a Kasai por-
metabolism or defects in biliary epithelial transporters. One study by Wong et al. showed performing
~
~ was not associated with a worse outcome.

to metabolize the sugar galactose appropriately; cholestasis may
be the initial manifestation. neonatal cholestasis is mainly supportive, working towards optimal
~
nutrition and growth, correcting fat soluble vitamin de ciencies if
body lacks the enzyme to metabolize tyrosine, an amino acid present, and treating complications such as hypercholesterolemia,
found in most proteins. pruritus, portal hypertension, cirrhosis, and liver failure. 4
~
ability to metabolize the sugar fructose appropriately; key identi- REFERRAL

fying feature is the appearance of symptoms following the intro-
duction of fructose into the diet. pediatric gastroenterologist.
~ Other inborn errors of metabolism.
of the cholestasis.
of hypothyroidism or hypopituitarism.
of any infection in the neonate and always warrant consideration PRO GNO SIS
~ Viral infection (cytomegalovirus, HIV, herpesvirus, coxsackie

virus, echovirus, rubella, or parvovirus).
~ Bacterial infection (urinary tract infection, sepsis, or syphilis).
~ Toxoplasmosis. a better prognosis than those diagnosed after this time period.
PART 9
FO LLO W-UP J Pediatr

Gastroenterol Nutr
diagnosis and should be directed by the appropriate subspecialists.

Arch Dis Child.
PATIENT EDUCATIO N Pediatr Rev
Eur J Pediatr
work-up for cholestasis.
provided, as many of the causes of cholestasis are chronic in nature. Clin Res Hepatol Gastroenterol
In
PATIENT RESO URCES
www.naspghan.org/ user-assets/ documents/ pdf/
positionpapers/ cholestaticjaundiceininfants.pdf.
http:// emedicine.medscape.com/ article/ 927029- -
overview. tion still indicated in children older than 3 months diagnosed with
biliary atresia? J Pediatr.
http:// accesspediatrics.com/ abstract/ 55944887. Lancet.
http:// accesspediatrics.com/ content/ 55943109.
analysis of the portoenterostomy (Kasai) procedure for biliary

atresia. Ann Surg.
Hepatology
J Pediatr. the third week of life. Arch Dis Child.

-
J Pediatr Surg
REFERENCES
- associated with a worse outcome. J Pediatr Gastroenterol Nutr.
PART 9
62 ANAL AND RECTAL INTRO DUCTIO N

DISO RDERS Hirschsprung disease is a developmental disorder of the enteric ner-
Fe d e rico G. Se ifarth, MD vous system characterized by absence of ganglion nerve cells in the
Gavin A. Falk, MD myenteric and submucosal plexuses of the distal intestine.
It is important to recognize the various anal and rectal disorders in

infants and children. In this chapter, the following disorders are SYNO NYMS
discussed in succession:
Hirschsprung disease; partial or total aganglionosis; congenital megacolon.
1. Hirschprung disease
2. Imperforate anus
3. Rectal prolapse EPIDEMIO LO GY
4. Anal ssure
5. Anal abscess and Fistula in ano 1
HIRSCHSPRUNG DISEASE
PATIENT STO RY ETIO LO GY AND PATHO PHYSIO LO GY
An 8-week-old girl is brought to your of ce with abdominal disten-

bowel peristalsis with constipation. The aganglionosis usually
tion and constipation. On digital examination of her anus she has an
begins in the anus and continues proximally for a variable distance.
episode of explosive diarrhea and atus. A plain radiograph shows
stool impaction and a contrast enema reveals a transition zone in -
the sigmoid colon (Figure 62-1). A suction biopsy con rms the tion of ganglion cells from the neural crest to the distal bowel or the
diagnosis of Hirschsprung disease. An enema regimen was started dysfunctional maturation or apoptosis of primitive nerve cells. There
and 3 weeks later she underwent a primary pull through operation. is increasing evidence that mutations in a variety of genes, including
the RET proto-oncogene, may play a key role in the etiology. 2,3
RISK FACTO RS
DIAGNO SIS
HISTO RY
rst meconium. beyond the rst 24 hours, abdominal distention,

and repeated vomiting.
~
and failure to thrive.
~ Ten percent of all patients present with fever, abdominal disten-

FIGURE 62-1 Hirschp rung d ise ase on a wate r-so lub le co ntrast e ne ma
d e monstrating a transition zone at the sp le nic e xure . (Use d with sion, and diarrhea caused by enterocolitis, which can progress to
p e rmission from O live r S. Sold e s, MD.) colonic perforation and life-threatening sepsis.
PART 9
ANAL AND RECTAL DISO RDERS THE GASTRO INTESTINAL TRACT AND 393
CLINICAL FEATURES
MANAGEMENT
hypertonic anus with empty rectum.
-
tion of bowel, which can be performed semielectively. 4,5 SO R
RECTAL BIO PSY
unrecognized or untreated disease until reconstructive surgery can
be performed:
suction rectal biopsy that samples rectal mucosa and submucosa is ~
routinely used in neonates and small children and can be performed ~
at the bedside. ~
anesthesia in the OR.

MEDICATIO NS
colitis. SO R
children with enterocolitis. SO R
diarrhea may have ndings consistent with dehydration. SURGERY
IMAGING ~
in the rectum.
proximal bowel, enterocolitis, bowel perforation, and malnutrition.
pathologic segment with proximal dilation of the normal bowel
is the classic nding (Figure 62-1). REFERRAL
ANO RECTAL MANO METRY
neonates.
constipation to rule out Hirschsprung disease.
including trisomy 21. 6

PRO GNO SIS
symptoms, failure to thrive and bilious vomiting.
mortality.
fecal soiling, and enterocolitis.

other systemic ndings.
aganglionosis, motility disorder, or habitual stool-holding

may need to rely to imaging studies to determine the location of
behavior.
the obstruction.
good. 4,5 SO R
manifestations such as failure to thrive.
normal sexual function.
FO LLO W-UP
to Hirschsprung but without the systemic manifestations.
can be seen on physical examination. developing constipation, soiling, and enterocolitis.

PART 9
PATIENT RESO URCES

www.digestive.niddk.nih.gov/ ddiseases/ pubs/
hirschsprungs_ez.
www.cincinnatichildrens.org/ health/ h/ hirschsprung.

www.aafp.org/ afp/ 2006/ 1015/ p1319.html.
ANO RECTAL MALFO RMATIO NS—

IMPERFO RATE ANUS
FIGURE 62-3 Cross-tab le late ral rad iog rap h showing a hig h re ctal
PATIENT STO RY stump . The rad iop aq ue p e lle t marks the imp e rforate anal skin.
(Use d with p e rmission from Fe d e rico Se ifarth, MD.)
A newborn boy is found to have noticeably at buttocks and no anal

opening on his rst physical examination (Figure 62-2). The pediatric
The following day fecal particles are noted in his urine. A cross-table
radiograph shows a rectal stump above the coccyx (Figure 62-3). A
high rectourethral stula is suspected and the surgeon takes the neo- completed by 9 weeks gestation, account for the described abnor-
nate to the operating room for colostomy formation. Three months malities of imperforate anus. 9
later the child undergoes de nitive imperforate anus repair and later
colostomy takedown.
RISK FACTO RS
INTRO DUCTIO N
Imperforate anus is a congenital anomaly in which the natural anal cases in succeeding generations have been described.
opening is absent. The presentation is highly variable with inconsistent
ndings of stulas to skin or the urogenital tract. The term “anorectal
malformations” integrates various forms of imperforate anus. DIAGNO SIS
EPIDEMIO LO GY
8 may be missed and manifest later with chronic constipation.
CLINICAL FEATURES
the neonate develops abdominal distention and fails to pass meconium.
opening, or no visible signs of meconium lled stula tract.

low or high based on the termination of the
rectum in relation to the levator muscles or more recently accord-
ing to clinical relevance and stula anatomy.
IMAGING
11
~
FIGURE 62-2 Ne wb orn b oy with imp e rforate anus and re ctoure thral
stula. (Use d with p e rmission from Fe d e rico Se ifarth, MD.) ~
PART 9
to determine level of sacral pouch if no stula is evident on second

day of life (Figure 62-3).
MANAGEMENT
Assessment of type of malformation, level of rectal pouch, and iden-

ti cation of rectal stula, which is present in the majority of cases.
pouch: high versus low.

FIGURE 62-5 Ne w functional anus afte r op e rative re construction of an
imp e rforate anus/re cto-b lad d e r ne ck stula. (Use d with p e rmission
MEDICATIO NS from Fe d e rico Se ifarth, MD.)
intravenous hydration. SO R
PRO GNO SIS

SURGERY
12 SO R sequelae like constipation and fecal soiling.

fashion.
~ High lesions (high position of rectal pouch and urogenital stulas)
may require initial colostomy (Figure 62-4).

~
FO LLO W-UP
repaired.
-
Figure 62-5). 12 SO R lifelong bowel management and dietary modi cations. 13
REFERRAL
PATIENT RESO URCES
www.pullthrough.org.
www.pediatricsurgerymd.org/ AM/ Template.
cfm?Section=Resources_for_Parents&TEMPLATE=/
CM/ ContentDisplay.cfm&CONTENTID=1535.
www.cincinnatichildrens.org/ health/ a/ anorectal-
malformations.

www.ncbi.nlm.nih.gov/ pmc/ articles/ PMC1971061.
RECTAL PRO LAPSE
PATIENT STO RY
A 3-year-old boy is brought to your of ce. He was recently potty

trained and has been complaining of anal pain after defecation for the
FIGURE 62-4 De sce nd ing sig moid colostomy with distal mucous stula
in a patie nt with an imp e rforate anus/re cto-b lad d e r ne ck stula. last two days. His mother noted a mass protruding from his anus after
(Use d with p e rmission from Fe d e rico Se ifarth, MD.) bowel movements (Figure 62-6). On further discussion, the mother
PART 9
RISK FACTO RS
DIAGNO SIS
CLINICAL FEATURES
reduces spontaneously.
FIGURE 62-6 Mucosal re ctal p rolap se in a child . (Use d with p e rmission (Figure 62-7).
from Thomas J Ab ramo, MD, From Fig ure 72-7 Pe d iatric Eme rg e ncy
Me d icine , 3rd e d ition. www.acce sse me rg e ncy me d icine .com.)

was delayed, and the mother was educated on importance of a high
-
up, the prolapse had resolved. ance of the tissue.
differentiated by the characteristic appearance.

INTRO DUCTIO N
Rectal prolapse in a child is relatively common and the vast majority

of patients do not have any predisposing factors. It may involve only
a small ring of mucosa or all layers of the rectum (full thickness
prolapse). MANAGEMENT
EPIDEMIO LO GY
age.
chronic constipation have rectal prolapse.14

~
from rectal prolapse.

~
~ FIGURE 62-7 Full thickne ss re ctal p rolap se with conce ntric ring s. The
conce ntric ring s in the p rolap se d mucosa are a sig n of a full thickne ss
increased intraabdominal pressure. re ctal p rolap se . (Use d with p e rmission from Rud olp h Te xtb ook of
~ Rectal polyps may act as leading point. Pe d iatrics, 22nd e d ition. Fig ure 416-1. www.acce ssp e d iatrics.com.)
PART 9
NO NPHARMACO LO GIC ANAL FISSURE

contractions of the anal sphincters. SO R
PATIENT STO RY
An 11-month-old baby boy presents with blood in his diaper. Examina-

MEDICATIO NS tion of his anal region reveals longitudinal skin lesions (Figure 62-8).
The differential is discussed with the parents and sitz baths were rec-
soft bowel movements. Three weeks later at follow-up, the child’s

SURGERY anal ssure has healed.
or for complicated cases with recurrent, painful, ulcerated, or

bleeding prolapse. SO R
INTRO DUCTIO N
thermocauterization, or excision of redundant mucosa. SO R
An anal ssure is a longitudinal tear in the distal anal canal epithelium
that extends from the dentate line to the anal verge. It is the most
resection of the sigmoid colon may be rarely necessary. 15 SO R common cause of rectal bleeding in childhood and a frequent cause of
anal pain.
REFERRAL
EPIDEMIO LO GY

children aged 12 to 24 months.
16

PRO GNO SIS
SO R
children.
frequently than younger children. 18 SO R healing.

19 SO R
FO LLO W-UP
PATIENT EDUCATIO N
the etiology of rectal prolapse.
PATIENT RESO URCES

www.livestrong.com/ article/ 220449-rectal-prolapse-
in-children.

FIGURE 62-8 Anal ssure in an 11-month-o ld b oy who p re se nte d with
www.patient.co.uk/ doctor/ Rectal-Prolapse.htm. d iarrhe a and stre aks of b lood in his stool. (Use d with p e rmission from
Fe d e rico Se ifarth, MD.)
PART 9
SURGERY
RISK FACTO RS
ssurectomy, anal dilatation, and lateral internal sphincterotomy. 21

SO R
DIAGNO SIS
HISTO RY
straining. SO R
or toilet paper.
PRO GNO SIS

CLINICAL FEATURES 22
usually in the posterior midline. conservative management, and 25 percent of these will have a
recurrence in 5 years. 23 SO R
sphincter spasm.
FO LLO W-UP
midline or lateral.
a healed ssure. This is due to epithelialized granulation tissue from continued for several weeks after operative treatment.
chronic in ammation.
IMAGING
PATIENT EDUCATIO N
obtained.
hydration and avoidance of constipation.

usually benign and resolve with adequate attention to prevent
and evidence of more widespread irritation. dehydration and constipation.
PATIENT RESO URCES

www.patient.co.uk/ health/ Anal-Fissure.htm.
and other manifestations usually present, such as failure to thrive PRO VIDER RESO URCES
www.cpnonline.org/ CRS/ CRS/ pa_anal s_hhg.htm.
Immunode ciencies).
PERIANAL ABSCESS AND FISTULA

MANAGEMENT
IN ANO
NO NPHARMACO LO GIC
PATIENT STO RY
sitz baths, and increasing uid consumption and ber intake. SOR
A 5-month-old boy presents with an area of cellulitis and obvious uc-
MEDICATIO NS tuance in his perianal region (Figure 62-9). He undergoes and incision
and drainage under general anesthesia (Figures 62-10 and 62-11).
reduce pressure for chronic ssures. SO R Two months later, he still suffers from recurrent drainage from the
PART 9
FIGURE 62-9 Perianal ab scess at 9 o’clock position in lithotomy position. FIGURE 62-11 Pe rianal ab sce ss with re d ve sse l loop d rain in p lace .
Note the induration at the site. (Used with permission from Federico (Use d with p e rmission from Fe d e rico Se ifarth, MD.)
Seifarth, MD.)
abscess site. He is taken back to the operating room and a stula in ano
is diagnosed and unroofed. At follow-up 4 weeks later, no evidence of ETIO LO GY AND PATHO PHYSIO LO GY
the previous stula tract can be found.
INTRO DUCTIO N stulas. They traverse from the affected crypt through the subcuta-
neous external sphincter to the perianal skin.
12 months of age. After spontaneous rupture or incision and drainage, stulas. 25
patients.24
epithelialized crypts may explain the predominant occurrence in
male infants. 26
EPIDEMIO LO GY
RISK FACTO RS
DIAGNO SIS
A careful physical examination of the perianal region is the key to the

diagnosis.
CLINICAL FEATURES
spontaneous drainage.
(Figure 62-12). The tract is typically subcutaneous, extrasphincteric,

and straight.
DISTRIBUTIO N
-
ference.
FIGURE 62-10 Incision and counte rincision of p e rianal ab sce ss.
(Use d with p e rmission from Fe d e rico Se ifarth, MD.)
PART 9
~ Frequent diaper changes and hygienic measures.

~ Expression of pus collections.
MEDICATIO NS
and susceptibility information obtained at the time of surgical drainage.
SURGERY
Figures 62-10 and
62-11) vs. antibiotic therapy alone. 24
(Figure 62-14).
anal stulas. 28
FIGURE 62-12 Fistula in ano following a p e rianal ab sce ss. This infant stulous tract is incised and left open to granulate or excised with
p re se nte d with a re curre nt p ustule at the site of the p re viously d raine d
ab sce ss. (Use d with p e rmission fro m Fe d e rico Se ifarth, MD.) primary closure.

outside the typical age groups.

-
PRO GNO SIS
Figure 62-13)
MANAGEMENT FO LLO W-UP

SO R
~
FIGURE 62-14 Fistula in ano in the same infant as in Figure 62-12, as seen
with metal probing at the time of surgical excision. Note the stulous tract
FIGURE 62-13 Transsp hincte ric anal stula in a p atie nt with Crohn extending from the perianal skin to inner opening at the anal crypt. (Used
d ise ase . (Use d with p e rmission from David K. Mag nuson, MD.) with permission from Federico Seifarth, MD.)
PART 9
Journal of
PATIENT EDUCATIO N Pediatric Surgery.
patients with anorectal malformations. J Pediatr Surg.

with the parents.
1228-1233.
PATIENT RESO URCES

a longitudinal study of 186 patients. J Pediatr Gastroenterol Nutr.
www.pedsurg.ucsf.edu/ conditions–procedures/
perirectal-abscess stula.aspx.
-
pexy in the treatment of persisting rectal prolapse in children:
PRO VIDER RESO URCES a preliminary report. Surg Endosc.
www.patient.co.uk/ doctor/ Ano-rectal-Abscess.htm.
Gastroenterology.
REFERENCES
Ped Surgery Int. 1991.
Hirschsprung’s disease and additional anomalies. Acta Paediatr.
prolapse in children. Dis Colon Rectum.
and genetics: a review. J Med Genet.

posterior repair and suspension. Journal of Pediatric Surgery.
et al. The RET proto-oncogene induces apoptosis: a novel mecha- 25(9):992-995.
nism for Hirschsprung disease. EMBO J.
toxin in children with chronic anal ssure. Eur J Pediatr Surg.
disease. Semin Pediatr Surg.
children with Hirshsprung disease-technical re nements and treatment of anal ssure in children. Br J Surg.
J Pediatr 1341-1342.
Surg Cochrane Database
Syst Rev.
understanding Hirschsprung’s disease. Ped Surgery Int.
trinitrate in anal ssure. Arch Dis Child.

problems after surgery for Hirschsprung disease in a child. J Pediatr
Gastroenterol Nutr. abscess and stula-in-ano in children. Br J Surg.
liveborn infants. Am J Med Genet Suppl. 1986;2:151-161. congenital etiology. Journal of Pediatric Surgery.
-
anorectal malformations. Birth Defects Orig Artic Ser. 1988;24(4): gagni: the cause of perianal abscess and stula-in-ano. Journal of
Pediatric Surgery.
stula in ano in infants. Ped Surgery Int.

Expert Consult— Online and Print
Birth Defects Orig Artic nonoperative management of stula-in-ano. Journal of Pediatric
Ser. Surgery.
PART 9
63 NUTRITIO NAL DISO RDERS

IN CHILDREN
Victor E. Uko, MD
Lori A. Mahajan, MD
PATIENT STO RY
An 18-month-old female was brought in for evaluation of a pale

appearance. She was described as an active toddler with no recent
fatigue, melena, or hematochezia. She was described as a picky
eater and has averaged 30 to 40 ounces of milk intake per day for FIGURE 63-1 Koilonychia d ue to iron d e cie ncy. (Use d with p e rmis-
the past 6 months. Family history and past medical histories were sio n from Rud olp h CD, Rud olp h AM, Liste r GE, First LR, Ge rshon AA:
Rud olp h’s Pe d iatrics, 22nd e d ition: www.acce ssp e d iatrics.com.)
noncontributory. On exam, height and weight were at the 50th
percentile. Examination was normal except for a pale appearance,
spooning of her nails (Figure 63-1), mild tachycardia, and a grade
II/ VI systolic ejection murmur heard best over the left lower ster- EPIDEMIO LO GY
nal border. Labs were signi cant for the following: Hgb 7.0 g/ dl,
Hct 21.0 percent, MCV 52 fL, RDW 18 percent, reticulocyte
count 1.9 percent, total iron 10 ug/ dL (30 to 140 ug/ dL), transfer-
other developed countries.
rin saturation 9 percent (11 to 46%), and ferritin 16 ng/ mL (18–
300 ng/ mL). Peripheral smear showed microcytosis, hypochromia,
mild anisocytosis, and polychromasia. estimates at approximately 17 percent, disproportionately affecting
She was diagnosed with iron de ciency anemia and started on minority youth. Overweight and obesity are now on the rise in
oral iron with concomitant reductions in her daily consumption of low- and middle-income countries, particularly in urban settings.
milk to no more than 18 to 20 ounces a day. At follow-up appoint- Almost 35 million overweight children live in developing countries
ment one month later, she looked well and her appetite had im- and 8 million in developed countries.
proved with consumption of a wider variety of foods. Repeat Hgb
was 9.5 g/ dL and her MCV 69 fL. Three months later, her hemo- malnutrition.
globin had completely normalized.

INTRO DUCTIO N
intake, increased nutrient loss, or increased nutrient and energy
Nutritional disorders in children include both de ciency and excess
requirements as seen in patients with chronic illness.
states. Protein energy malnutrition remains one of the leading causes
of death in children in underdeveloped countries. Obesity has
emerged as one of the most common nutritional disorders in chil- from the gastrointestinal tract. Any disease that interrupts bile ow,
dren worldwide. Children who have a body mass index (BMI) in the digestive enzyme excretion, or small bowel mucosal integrity, may
85th to 94th sex- and age-speci c percentile are considered over- result in a variety of nutritional de ciencies (Table 63-1).
weight. Those with a BMI at or above the 95th percentile are consid-
ered obese. patients with poor oral intake and diseases that cause malabsorption
TABLE 63-1 Possib le Nutritional De cie ncie s in Gastrointe stinal Dise ase
Dise ase Vit amin(s) Mine ral Trace Ele me nt

Cystic b rosis/Pancre atic Insuf cie ncy A, D, E, K, B12 Mag ne sium Iron, Se le nium, Zinc
Chole stasis A, D, E, K, B12 Calcium
Ce liac d ise ase A, D, E, K, B12, Folate Calcium Iron, Cop p e r
Crohn’s d ise ase A, D, E, K, B12, Folate Mag ne sium Iron, Cop p e r, Se le nium, Zinc
Ulce rative colitis D, Folate Mag ne sium Iron, Zinc
PART 9
NUTRITIO NAL DISO RDERS IN CHILDREN THE GASTRO INTESTINAL TRACT AND 403
including pancreatic disorders and cholestatic liver disease.

Vitamin D de ciency can also result from lack of sun exposure. 1 RISK FACTO RS FO R NUTRITIO NAL
DEFICIENCY STATES
-
hood. It can be seen secondary to poor oral intake, poor absorp-
tion, and in cases of chronic blood loss.
1 (thiamin) is found in milk, meats, eggs, legumes, and
fruits. De ciency results from inadequate intake or poor absorption
due to intestinal or liver disease. Table 63-1).
2 (ribo avin) de ciency is seen in patients on long term
barbiturates, disorders of intestinal malabsorption, and in patients
who avoid dairy products which are a good source of this vitamin. RISK FACTO RS FO R NUTRITIO NAL
TO XICITY STATES AND O BESITY
3 (niacin) de ciency is seen in patients with carcinoid syn-
drome and Hartnup disease (autosomal recessive disorder of tryp-
tophan metabolism). It is also seen with prolonged use of certain
medications such as isoniazid, azathioprine, and phenobarbital. 2
6 (pyridoxine) de ciency is uncommon. Low levels of
pyridoxal phosphate can be seen in patients with chronic illnesses
DIAGNO SIS
such as diabetes, asthma, and sickle cell anemia.
Vitamin B9 (folic acid) is essential to numerous bodily functions CLINICAL FEATURES
including DNA synthesis and repair as well as to act as a cofactor in
certain biological reactions. It is especially important in aiding rapid
can be assessed using anthropometric measurements (standardized
cell division and growth, and is required to produce healthy red
growth charts), speci c physical examination ndings, and con r-
blood cells and prevent anemia. Lack of adequate intake leads to
matory laboratory measurements.
folate de ciency, which is now uncommon.
12 is bound to intrinsic factor in the stomach and is
are listed in Tables 63-2 and 63-3.
absorbed primarily in the terminal ileum. De ciency typically
results from inadequate intake (vegan mothers and in their breast
fed infants), surgery involving the stomach or terminal ileum, de ciency in children. Chronic de ciency may lead to spooning and
or lack of excretion of intrinsic factor in the stomach (pernicious pallor of the nail beds (Figure 63-1).
anemia). -
- tom), xerosis (dry eyes), and the development of Bitot’s spot—
ished patients and in those who consume a diet devoid of fruits and triangular areas of abnormal squamous cell proliferation and kerati-
vegetables. De ciency leads to impaired collagen and chondroitin nization of the conjunctiva (Figure 63-2). 6
sulfate formation. The tendency to hemorrhage, presence of defec- 1 (Thiamin) is classically associated with symptoms of
tive tooth dentin, and loosening of teeth caused by de cient colla- cardiac dysfunction (cardiomyopathy) along with neurological
gen is known as scurvy. symptoms, which may include polyneuropathy and seizures.
- -
gery and also in those with malabsorption such as patients with mus, ophthalmoplegia, and ataxia) is only rarely seen in the pediatric
untreated celiac disease. Premature infants receiving milk without age group.
adequate copper supplementation and those on long-term total par- 2 (Ribo avin) de ciency is characterized by angular
enteral nutrition (TPN) can also develop copper de ciency. stomatitis, glossitis and seborrheic dermatitis (Figure 63-3).
(pancreatic enzymes are needed for the release of dietary zinc), (Figure 63-4). Other clinical manifestations include an increased
chronic in ammatory diseases and those on long term total paren- susceptibility to infections, diarrhea, and growth failure.
teral nutrition (TPN). Acrodermatitis enteropathica results in zinc
de ciency due to malabsorption. 3 Other commonly associated signs include hepatomegaly from fatty
liver disease and acanthosis nigricans (associated with insulin resis-
long-term parenteral nutrition without supplementation. 4 tance). Signs of possible reversible causes of obesity should also be
sought including deep purple striae and the “buffalo hump” of
vitamins as well as minerals and are due to excess ingestion or Cushing’s syndrome (a rare secondary cause of obesity).
administration.
mental factors. 5 The most common cause is overconsumption of
calories as compared to amount of calories used. ndings.
PART 9
TABLE 63-2 Clinical Fe ature s of Vitamin De cie ncy and Exce ss State s
Vit amin De cie ncy St at e Exce ss St at e

Vitamin A Nyctalop ia (nig ht b lind ne ss) Nause a and vomiting
Xe rop hthalmia Bone and muscle p ain
Bitot Sp ots He p atome g aly/he p atic b rosis
Pse ud otumor ce re b ri
Vitamin D Ricke ts/oste omalacia Pse ud otumor ce re b ri
De ntal carie s Bone p ain/cortical hyp e rostosis
Hyp e rte nsion
Ectop ic calci cation
Vitamin E Ne urolog ic chang e s: d e cre ase d DTRs, wid e - Prolong e d PT/vitamin K antag onism
b ase d g ait, ocular p alsy, sp inoce re b e llar
d e g e ne ration
Ane mia/he molysis
Vitamin K Coag ulop athy Shock, anap hylaxis with IV
He morrhag ic d ise ase of ne wb orn He molysis
Vitamin B1 (Thiamin) Be rib e ri Nause a/anore xia/le tharg y or
Card iac failure / ne urop athy anap hylaxis from p are nte ral form
Korsakoff’s synd rome /
We rnicke ’s e nce p halop athy
Vitamin B2 (Rib o avin) Se b orrhe ic d e rmatitis
Che ilitis
Glossitis
Vitamin B3 (Niacin) Pe llag ra: d e rmatitis, d iarrhe a, d e me ntia Flushing
Burning , sting ing hand s
Vitamin B6 De cre ase d tryp top han to niacin conve rsion Se izure s
Pe rsonality chang e s Pe rip he ral ne urop athy
Vitamin B9 (Folate ) Macrocytic ane mia/le ukop e nia
Vitamin B12 Che ilitis
Glossitis
Pe rip he ral ne urop athy
Macrocytic anemia/hypersegmented ne utrophils
Vitamin C Scurvy Gastritis
Poor wound he aling Diarrhe a
obesity-related illnesses (hypertension, known dyslipidemia,

increased blood pressure) include a fasting lipid pro le should be
(25 OH Vit D) levels in serum. done. Children with a BMI between the 85th and 94th percen-
tiles and risk factors should have a fasting lipid pro le, and mea-
-
surement of alanine transaminase and aspartate transaminase
national normalized ratio (INR) in the serum.
levels (to detect fatty liver disease) and fasting blood glucose
(to detect type 2 diabetes). 7 Children whose BMI is above the
in this group. 95th percentile should have the same tests plus measurement
of blood urea nitrogen and creatinine to detect impaired renal
Twenty-four hour urine collection for copper is preferred to function (which may develop from long-standing hypertension
copper analysis test in Wilson’s disease. Low alkaline phosphatase or diabetes).
levels are seen in patients with zinc de ciency.
index between the 85th and 94th percentiles but who have no physical examination (Figure 63-5).
PART 9
TABLE 63-3 Clinical Fe ature s of Mine ral/Trace Ele me nt De cie ncy and Exce ss State s
Mine ral/ Trace Ele me nt De cie ncy St at e Exce ss St at e

Calcium Bone d e mine ralization Ne p hrocalcinosis
Te tany/se izure s (milk-alkali synd rome )
Card iac arrhythmia
Cop p e r Hyp ochromic ane mia, ne utrop e nia skin He p atic ne crosis
d e p ig me ntation He molysis
CNS d ysfunction Re nal failure
Coma/d e ath
Fluorid e Incre ase d d e ntal carrie s Mottle d e name l (chronic)
O ste op orosis
Iron Hyp ochromic microcytic ane mia Coag ulop athy
Pica GI b le e d ing
Iod ine Goite r Thyrotoxicosis
Cre tinism
Mag ne sium Card iac arrhythmia Laxative e ffe ct
Se izure s He art b lock
Flaccid q uad rip le g ia
Re sp iratory p aralysis
Mang ane se De cre ase d nail and hair g rowth
De p re sse d clotting factors
De rmatitis
Se le nium Card iomyop athy Alop e cia
Fatig ue /hyp othyroid ism Garlic od or to b re ath
Zinc Rash (p e rianal/p e rioral), p oor wound Nause a/d ysp e p sia/vomiting
he aling , Immune d ysfunction Hyp e rchole ste role mia
common cause being poor oral intake. Other important consider-

ations are listed in Tables 63-1 to 63-3.
FIGURE 63-3 Ang ular Stomatitis d ue to vitamin B2 (rib o avin) d e -

FIGURE 63-2 Bitot’s spot on the conjunctiva due to vitamin A de ciency. cie ncy. (Use d with p e rmission from Gold smith LA, Katz SI, Gilchre st BA,
It is associated with conjunctival xerosis. (Used with permission from Palle r AS, Le ffe ll DJ, Wolff K: Fitzp atrick’s De rmatolog y in Ge ne ral
Lueder GT: Pediatric Practice Ophthalmology www.accesspediatrics.com.) Me d icine , 8th e d ition: www.acce ssme d icine .com.)
PART 9
A B
FIGURE 63-4 Perianal (A) and perioral (B) d ermatitis due to zinc de ciency. Known as acrodermatitis enterop athica. (Used with permission from
Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K: Fitzpatrick’s Dermatolog y in General Med icine, 8th edition: www.accessmedicine.com.)
MANAGEMENT
NO NPHARMACO LO GIC
depending on de ciency or excess state; see Table 63-4). TABLE 63-4 Die tary Source s Rich in Nutrie nts
Fat So lub le Vit amins

Vit amin A: e g g , live r, forti e d milk, d ark g re e n and
ye llow fruits & ve g e tab le s
Vit amin D: forti e d milk, e g g yolk, sh, sunlig ht
Vit amin E: nuts, soyb e ans, g re e n le afy ve g e tab le s,
corn or canola oil, olive s
Vit amin K: gre e n le afy ve ge table s, he rb s, prune s
Wat e r-So lub le Vit amins
Thiamin: whole g rain/e nriche d g rain p rod ucts, me at,
milk, le g ume s
Rib o avin: whole g rain/e nriche d g rain p rod ucts, me at,
milk, e g g s
Niacin: whole g rain/e nriche d g rain p rod ucts, me at,
sh, g re e n ve g e tab le s
Fo lat e : forti e d g rains, g re e n le afy ve g e tab le s, b e an
sp routs, p e anuts
Vit amin B12 : me at (p articularly se afood ), milk, e g g s
Mine rals/ Trace Ele me nt s
Calcium: d airy, tofu, almond s, g re e n le afy ve g e tab le s,
he rring
Co p p e r: me at, le g ume s, chocolate
Iro n: me at, e nriche d g rains, p ump kin/sq uash se e d s,
sun-d rie d tomatoe s/ap ricots
Io d ine : se afood , iod ize d salt
Mag ne sium: se afood , nuts, g re e n ve g e tab le s
FIGURE 63-5 Prad e r Willi Synd rome in an 11-ye ar-old b oy. (Use d with Zinc: me at, d ark chocolate , p e anuts
p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File .)
PART 9
once a year. team assembled as indicated (dietitian, gastroenterologist, endocri-

nologist, counselor, trainer, etc.).
forth by the American Medical Association is summarized as
follows:8 PREVENTIO N AND SCREENING
Stage 1 (Prevention-plus protocol)
≥5 servings of fruits and vegetables daily. patients with cholestatic disease or fat malabsorption. They should
≤2 hours per day. also be periodically screened for insuf cient levels of these vitamins
even though supplemented.
-
≥60 minutes of moderate to vigorous physical activity per day.
utes per week for infants clothed in diapers or 2 hours per week
when fully clothed) is recommended. Dark-skinned infants require
at least threefold longer periods of sunlight exposure.
≥ ve times per week. infants and those consuming less than 1 liter of infant formula each
day is recommended. 9
(e.g., a child should be permitted to eat portions of food until
satiated, no more, or less). recommended to prevent hemorrhagic disease of the newborn.
12 supplementation is required for pregnant women who
Stage 2 (Structured weight-management protocol) are strict vegans especially those who intend to exclusively breast
feed their babies.
physical activity of at least 60 minutes daily, one hour or less screen
time per day, and increased self-monitoring of these behaviors Infants (6 months and older) should have at least 2 iron forti ed cereal
through log completion. If no improvement in BMI takes place feeds each day along with at least one feeding per day of vitamin C
after three to six months, Stage 3 is appropriate. rich foods such as citrus fruits, dark green vegetables, tomatoes.
Stage 3 Comprehensive, Multidisciplinary Intervention
(20 ounces) of milk per day.
Stage 4 Tertiary-Care Intervention
children at 9 to 12 months of age.
MEDICATIO NS
of age for high-risk patients (premature infants, children with
instituted. chronic in ammatory disease, children with recurrent/ chronic
infections and those on restricted diets).
led to the nutritional de cient state.

annually. Parents should be counseled at initial well child checks
regarding healthy foods, healthy habits, setting a good example
SURGERY themselves, and living an active lifestyle.
may require surgical procedures for placement of feeding tubes PRO GNO SIS
or central venous lines for parenteral nutrition. SO R
-
should be considered for adolescents with extreme obesity ciency state.
(BMI ≥40) and other comorbidities associated with long-term -
risks who are unresponsive to dietary and lifestyle modi cation. nosis with successful replacement of the de cient nutrient.
SO R
high risk of becoming obese adults. Approximately 80 percent of chil-

REFERRAL dren who are obese at 10 to 15 years of age remain obese as adults.
dietary counseling. FO LLO W-UP
any underlying gastrointestinal causes for nutritional -

de ciencies. tions are instituted in patients with nutritional de ciencies or excesses.
PART 9
PATIENT RESO URCES

al-Aboosi MM, et al. Homozygosity mapping places the acroder-
matitis enteropathica gene on chromosomal region 8q24.3. Am J
ABCs of Good Nutrition for Young Children—
Hum Genet. 2001;68(4):1055-1060.
www.patiented.aap.org/ content.aspx?aid=5705.
www2.aap.org/ obesity.
Selenium de ciency in a patient with Crohn’s disease receiving long-
term total parenteral nutrition. Intern Med. 2003;42(2):154-157.
5. Maffeis C. Aetiology of overweight and obesity in children and
www.health.gov/ dietaryguidelines/ dga2005/ toolkit/ adolescents. Eur J Pediatr. 2000;159(1):S35-44.
default.htm.
6. Tanumihardjo SA. Assessing vitamin A status: past, present and
www.apps.nccd.cdc.gov/ dnpabmi/ . future. J Nutr. 2004;134(1):290S-293S.
Assessment of child and adolescent overweight and obesity.

Children Living in Low-Income Families. 1998–2010. JAMA. Pediatrics. 2007;120(4):S193-228.
2012;308(24):2563-2565.
8. Barlow SE, for the Expert Committee: Expert committee recom-
mendations regarding the prevention, assessment, and treatment
of child and adolescent overweight and obesity: summary report.
REFERENCES Pediatrics. 2007;120(4):S164-S192.
Prevalence of vitamin D de ciency among healthy adolescents. Drug and Therapeutics Committee of the Lawson Wilkins Pediatric
Arch Pediatr Adolesc Med. 2004;158(6):531-537. Endocrine Society: Vitamin D de ciency in children and its man-
2. Wan P, Moat S, Anstey A. Pellagra: a review with emphasis on agement: review of current knowledge and recommendations.
photosensitivity. Br J Dermatol 2011;164(6):1188-1200. Pediatrics. 2008;122(2):398-417.
PART 10
THE GENITO RURINARY

SYSTEM AND KIDNEYS
St re ng t h o f
(SO R) De nit io n

PART 10
410 THE GENITO RURINARY SYSTEM CHAPTER 64
AND KIDNEYS
64 URINARY SEDIMENT/ = 8,954 unselected children ages 8 to

15 years), the incidence of microscopic hematuria found in one or
URINARY TRACT more of four urine specimens was 4.1 percent; the incidence was
INFECTIO NS 1.1 percent for hematuria present in two or more specimens. 2
Mind y A. Smith, MD, MS estimated incidence of 1.3/ 1000. 3

Richard P. Usatine , MD >2 to 10 white blood cells per high-power eld
[WBCs/ HPF]) is not uncommon in sick neonates and febrile children.
~ In a study of 110 consecutive infants admitted to a neonatal
intensive care unit in Karachi, 35 had pyuria, of who

PATIENT STO RY
71.4 percent had no growth in urine cultures. 4
~ = 210),
A 10-year-old boy presented to the of ce with a 2-day history of
= 62) had pyuria including 34 with sterile pyuria
“tea-colored” urine. Two weeks prior to this presentation, he had
and eight with bacterial pyuria. 5
an upper respiratory infection that resolved without treatment. Two ~ In another case series of children with acute KD compared to
years ago, he had a similar episode of gross hematuria that developed
children with other febrile illnesses, 79.8 percent of KD and
after a viral infection, and at that time the diagnosis of IgA nephropa-
54.0 percent of febrile children without KD had pyuria. 6 The
thy was entertained. His urine now reveals hematuria (Figure 64-1)
median number of white blood cells in the urine was higher for
but no proteinuria.
children with KD (42 WBC/ microL vs. 12 WBC/ microL in
febrile children).
INTRO DUCTIO N
Examination of the urinary sediment is a test frequently done for evalu- 73 percent sensitivity and 81 percent speci city for the diagnosis. 7
ation of patients with suspected genetic/ intrinsic (e.g., systemic lupus ~
nephritis, sickle cell disease, glomerulonephritis, interstitial nephritis), to have defects on renal cortical scintigraphy (RCS) indicating
anatomic (e.g., arteriovenous malformation), obstructive (e.g., poste- acute pyelonephritis; of these, 10 to 40 percent will have perma-
rior urethral valves, kidney stones), infectious, metabolic (e.g., coagu- nent renal scarring. 8
lopathy), traumatic, or neoplastic disease of the urinary tract. Potential
ndings of red or white blood cells, casts, bacteria, or neoplastic cells institutions, 62.5 percent of the tests received a manual micro-
help in directing further evaluation of a patient’s problem. scopic evaluation of the urinary sediment, usually triggered by an
the time as a result of the manual examination.

EPIDEMIO LO GY
-
turia in children, 5 to 10 RBCs/ HPF are considered signi cant.1
Figure 64-1) has many causes including:1

~ Idiopathic.
~ Glomerular disease (e.g., immunoglobulin [Ig]A nephropathy,
post-streptococcal glomerulonephritis, membranoproliferative
~ Interstitial and tubular disease (e.g., acute pyelonephritis,

tuberculosis, hematologic disorders such as sickle cell, or
thrombocytopenia).
~ Structural or congenital abnormalities (e.g., polycystic kidney
disease).
~
7
disease (e.g., bladder infection [Escherichia coli
stone, trauma [including recent catheterization], tumors, or
exercise).
~
~ Toxins (e.g., lead, turpentine).

~ Contamination (menstruation or bloody diarrhea).
FIGURE 64-1 Re d b lood ce lls (RBCs) se e n in the urine . Some of the
RBCs are cre nate d and the re is one e p ithe lial ce ll visib le . (Use d with
~ The most common causes of hematuria in children are idiopathic,
p e rmission from Richard P. Usatine , MD.) benign familial, idiopathic hypercalciuria, IgA nephropathy, and
PART 10
URINARY SEDIMENT/URINARY TRACT INFECTIO NS THE GENITO RURINARY SYSTEM 411
AND KIDNEYS
sickle cell trait or anemia. 1 In the Vehaskari et al. study, of 28

children with hematuria (6 or more RBC/ 0.9 mm3 or more than
100,000 RBC/ hour) on two occasions who underwent renal
biopsy, 12 children had normal biopsies, two children were diag-
nosed with IgA-IgG nephropathy, one with focal segmental scle-
rosis, one with extracapillary glomerulonephritis, and one with
possible hereditary nephritis. 2
~ The source of bleeding in children is most commonly glomerular
(vs. urinary tract); RBCs cross the glomerular endothelial-epi-

thelial barrier entering the capillary lumen through discontinui-
ties in the capillary wall. 1
~ A family history of hematuria, hypertension, renal disease
(e.g., kidney stones, cystic disease), sickle cell, hemophilia,

and dialysis or transplant can be helpful. 1 In one study of 500
children with beta-thalassemia major requiring transfusion,
10.6 percent had hematuria. 10
Figure 64-2) and FIGURE 64-3 Pyuria and b acte riuria in a p atie nt with a urinary tract
excess protein excretion (>500 mg/ dL) suggests glomerulonephritis. infe ction. A simp le stain was ad d e d to the we t mo unt of sp un urine .
Althoug h the re are e p ithe lial ce lls p re se nt, the culture d e monstrate d a
true urinary tract infe ction (UTI) and not me re ly contaminate d urine .
system, although recurrent episodes of gross hematuria occur in (Use d with p e rmission from Richard P. Usatine , MD.)
11
~ Bright red urine and/ or visible clots with normal appearing

RBCs on microscopy suggest bleeding from the urinary tract. 1 ~ Asymptomatic bacteruria is found in 4 to 15 percent of pregnant
~ Brownish-colored urine (described as tea or cola-colored) with women, usually Escherichia coli.
RBC casts and dysmorphic RBCs suggest glomerular bleeding. 1 ~ The presence of WBC casts (Figure 64-4) with bacteria indicates
Figure 64-3) is often the result of urinary tract infection. pyelonephritis.
~ The presence of bacteria (>102 organisms per mL or >105 using a
midstream urine specimen in older children and adults) suggests children with KD or tuberculosis. 5,6,13
infection. A urinalysis with 10 bacteria per HPF is highly suggestive
+] 85). 12 like interstitial nephritis, systemic lupus erythematosus, or transplant
rejection.
(DCT) or in the collecting duct (distal nephron).
epithelial cells within the nephrons. These translucent casts are the
most common type of cast and can be seen in normal persons after
vigorous exercise or with dehydration. Low urine ow and
FIGURE 64-2 A RBC cast cause d b y b le e d ing into the tub ule from the
g lome rulus. The se casts are se e n in g lome rulone p hritis, Ig A ne p hrop a- FIGURE 64-4 WBC casts se e n in pye lone p hritis. The se can b e d iffe re n-
thy, lup us ne p hritis, Good p asture synd rome , and We g e ne r g ranuloma- tiate d from a clump of WBCs b y their cylind rical shap e and the p re se nce
tosis. RBC casts are always p atholog ic. of a hyaline matrix.
PART 10
AND KIDNEYS
~ Temperature of > or =
DIAGNO SIS
CLINICAL FEATURES
disease or metabolic abnormalities.

~ Important aspects of the history include prior or current infec-
tion (urinary tract, diarrhea, or strep throat), strenuous exercise,

menstruation, tropical exposures, trauma, pain (bladder, ank,
1,18
Inquire about changes in urine volume. Also examine for foreign

body insertion and occult trauma, including sexual abuse (e.g.,
genital bleeding).
FIGURE 64-5 Hyaline casts are translucent and proteinaceous. These
are the most common casts found in the urine and can b e seen in normal
~ Family history of sickle cell disease or hemophilia, stone disease,
individ uals. Concentrated urine with low ow, usually caused by dehydra- hearing loss, and familial renal disease, hematuria, and hypertension
tion, exercise, and /or diuretics, can lead to hyaline cast formation. can be helpful. 18
~ Signs and symptoms of glomerular disease include various
concentrated urine from dehydration can contribute to the formation degrees of renal failure, edema, oliguria, hypertension, and ane-
of hyaline casts (Figure 64-5). mia out of proportion to the degree of renal failure. Ask about
sore throat or skin infection within the last 4 weeks, suggesting
(Figure 64-6). These casts can result from the breakdown of
cellular casts or the inclusion of aggregates of albumin or immuno-
globulin light chains. They can be classi ed as ne or coarse based -
on the size of the inclusions. There is no diagnostic signi cance to 15
Hypertension is
the classi cation of ne or coarse. 15
~ In a case series of children with Henoch-Schönlein purpura

RISK FACTO RS = 223), nephritis occurred in 46 percent, most within
1 month of diagnosis. 16
in 14 percent, isolated proteinuria in 9 percent, both hematuria
and proteinuria in 56 percent, nephrotic-range proteinuria in
20 percent, and nephrotic-nephritic syndrome in 1 percent.
children in one study were:14 ~ Renal stones can cause pain in the ipsilateral ank and/ or abdomen
with radiation to the ipsilateral groin, testicle, or vulva or irritative
symptoms of frequency, urgency, and dysuria, if located in the
bladder.
~ An abdominal mass may be caused by a tumor, hydronephrosis,
multicystic dysplastic kidney, or polycystic kidney disease. 1
~ Rash and/ or arthritis can occur in patients with Henoch-
Schönlein purpura or systemic lupus erythematosus.
pain [LR+ +
CI, 2.1 to 6.1]) in addition to dysuria, frequency, or both (LR+ 2.2
to 2.8); new-onset urinary incontinence (LR+
17
~ + 2.3 to 2.9), fever

higher than 40°C (104°F) (LR+ 3.2 to 3.3), and suprapubic
tenderness (LR+ 4.4) were the ndings most useful for
FIGURE 64-6 Coarse granular cast. All g ranular casts indicate underlying
renal disease. These are nonspeci c and may be seen in d iverse renal and vomiting, and ank pain; positive likelihood ratios, however,
conditions. are low (1.5 to 2.5).
PART 10
AND KIDNEYS
LABO RATO RY TESTING AND IMAGING 0.05 to 0.23) or a dipstick negative for both LE and nitrite (pooled
11
LR−
~ If the child is 3 years of age or younger, a urine sample for
sediment looking for dysmorphic cells or RBC casts (Figure 64-2)
and a test for proteinuria (>2+ by dipstick). microscopy and culture is recommended; pyuria and positive
~ If positive, suspect glomerular disease and consider a basic meta- bacteruria (at least 50,000 colonies per mL of a single uropatho-
bolic panel, complete blood count and platelet count, comple- genic organism in an appropriately collected specimen of urine)
20
ment, albumin, streptozyme, and antibody testing (antistreptolysin Positive likelihood ratios are lower for dipstick
21
testing in infants (LR+ For
cytoplasmic antibody); a renal biopsy may be indicated. 1 Work-up febrile infants, the urine specimen should be obtained before an
11 antimicrobial agent is administered and through catheterization
~ If negative and the sediment contains WBCs (Figure 64-3) or or suprapubic aspiration. 20
~ For older children with a positive LE and nitrite, treatment can
WBC casts (Figure 64-4), suspect infection and obtain a urine
culture and susceptibility test if pyelonephritis is suspected; be initiated empirically and a urine culture obtained for con r-
E. coli is the most common organism. mation and susceptibility testing. If only one of the dipstick tests
~ is positive, a urine sample for microscopy and culture is indicated
from family members looking for hematuria (if positive, the diag- with treatment based on clinical and lab ndings. 7
nosis of benign familial hematuria is likely) or signs of glomerular
disease, and a urine for calcium/ creatinine ratio; if the diagnosis cases:22
remains unclear, consider a 24-hour urine collection for protein, ~ Age <
creatinine and calcium. 1 If these tests are also negative and hema- kidneys and bladder with consideration of x-ray voiding cystoure-
turia persists, consider a hearing test, renal ultrasound, and throgram in boys and in the presence of an ultrasound abnormality.
hemoglobin electrophoresis. 1 ~ Age >2 months and ≤3 years, febrile urinary tract infection with
~ For a child with isolated hematuria, the American College of
Radiology (ACR) recommends an ultrasound of the kidneys and The yield of this test decreases with increasing age and clinical
bladder. 18 If the child has painful, nontraumatic hematuria, ACR judgement is needed for older children.
recommends a computed tomography (CT) scan without contrast ~ Atypical (poor response to antibiotics within 48 hours, sepsis,
to evaluate for stones and an ultrasound of the kidneys and blad- urinary retention, poor urine stream, raised creatinine, non-
der. An x-ray of the abdomen and pelvis can also be considered. E. coli
- -
lonephritis (e.g., edema, hypertension, proteinuria, or RBC casts) ation of radionuclide cystography in girls.
and if present, consider tests previously noted for microscopic -
hematuria suspicious for glomerulonephritis. nography reveals hydronephrosis, scarring, or other ndings that
~ If there is no trauma involved, obtain a urine culture and renal
20
and bladder ultrasound. 1

~ If the hematuria was caused by trauma, ACR recommends obtaining
MANAGEMENT
a CT of the abdomen and pelvis with contrast.18 x-ray retrograde
urography is considered in cases where blood is present at the
Treatment will depend on the underlying etiology:
urethral meatus or if there are pelvic fractures.18
~ For painful hematuria that is not infectious, a CT of the abdomen
and pelvis without contrast and/ or an ultrasound of the kidneys stone disease, or a family history of renal failure, referral to a
and bladder is most appropriate looking for stones or urologic nephrologist is indicated. 1 -
conditions (e.g., tumor). 18 where. 11
~ Cystoscopic evaluation is helpful if bladder pathology is suspected
or to localize bleeding during an episode of active bleeding. stone disease, tumor, or structural abnormalities referral to an
~ If the preceding evaluation is negative, consider periodic
urologist is indicated. Such referral can also provide reassurance in
follow-up. cases where no cause of hematuria has been found.
Figure 64-2
also consider nephrotic syndrome caused by diabetes or amyloidosis of the sensitivities of E. coli in the individual practice location (there
is increasing resistance to amoxicillin).
~ First line choices are trimethoprim-sulfamethoxazole, amoxicillin/
specimen (Figure 64-2). clavulanate, or cephalosporins such as ce xime. 7 Symptoms

usually improve within 24 to 36 hours.
positive for pyuria and bacteruria (pooled LR+ -
to 125.9) or a dipstick positive for both leukocyte esterase (LE) and biotics as an outpatient (e.g., amoxicillin/ clavulanate, ce xime,
nitrite (pooled LR+ ceftibuten) for 10 to 14 days or with short-courses (two to four
19
− days) of intravenous therapy followed by oral therapy. 7,23 The urine
PART 10
AND KIDNEYS
should always be cultured in pyelonephritis to help guide therapy. -

Pregnant women or children with complicated pyelonephritis may scopic examination of urine sediment: a College of American
need hospitalization. Pathologists Q-Probes study of 11,243 urinalysis tests from 88
institutions. Arch Pathol Lab Med. 2008;132(12):1868-1873.
Stones for management of patients with these conditions.
in patients with Beta-thalassemia major. Iran J Kidney Dis. 2010;
4(2):133-136.
Pediatr Nephrol. 2010;25:1409-1418.
urinalysis for screening in children and adolescents is among tests
considered of low predictive value and/ or uncertain bene cial and identi cation of non-cancer diagnoses in primary care: cohort
action for true positives and is not recommended. 24 study. BMJ. 2009;339:b3094. doi: 10.1136/ bmj.b3094.
-
tions such as survivors of childhood cancers exposed to radiation or pyuria in children? Don’t forget tuberculosis! Singapore Med J.
some chemotherapeutic agents. 25 2010;51(3):e48-50.
(1999–2008) resulted in over 5,000 children being referred to associated with urinary tract infection in young febrile infants.
pediatric nephrologists. 26 Renal biopsies were performed on 1,478 Pediatrics. 2005;116(3):644-648.
Pediatr Nephrol. 2010;25:1409-1418.
of Henoch-Schonlein purpura in a 6-month prospective study of

with thin basement membrane nephropathy). 223 children. Arch Dis Child. 2010;95(11)877-882.
tract infection? JAMA. 2007;298(24):2895-2904.

27,28
mild to moderate vesicoureteral re ux.
18. Coley BD, Gunderman R, Bulas D, et al. Expert Panel on Pediatric
Imaging. ACR Appropriateness Criteria® hematuria - child [online
PRO VIDER RESO URCES publication]. Reston,VA: American College of Radiology (ACR);
Urinalysis—www.library.med.utah.edu/ WebPath/ 2009. Available at http://www.guideline.gov/ content.aspx?id=
TUTORIAL/ URINE/ URINE.html. 15750&search=hematuria+
-
REFERENCES
Urol Clin North in children under ve years: a systematic review. BMC Pediatr.
Am. 2004;31:559-573. 2005;5(1):4.
in school children: epidemiology and clinicopathologic evaluation.

J Pediatr. 1979;95(1):676-684.
in febrile infants and children 2 to 24 months. Pediatrics. 2011;

gross hematuria in a general pediatric setting. Pediatrics. 1977;59:
128(3):595-610.
557-561.
of urinary tract infections in neonates. J Pak Med Assoc. 2011;

review of relationship with age and comparison with microscopy.
61(1):70-73.
Acta Paediatr. 2010;99(4):581-584.
22. Karmazyn B, Coley BD, Binkovitz LA, et al. Expert Panel on
children with Kawasaki disease. Pediatr Int. 2010;52(1):113-117.
Pediatric Imaging. ACR Appropriateness Criteria® urinary tract
infection—child [online publication]. Reston, VA: American
acute Kawasaki disease and fever from other causes. Pediatr Infect College of Radiology (ACR); 2012. Available at http://www.
Dis J. 2009;28(5):440-443. guideline.gov/ content.aspx?id=37938&search=pyelonephritis
7. White B. Diagnosis and treatment of urinary tract infections in +
children. Am Fam Physician. 2011;83(4):409-415. -
phritis in children. Cochrane Database Syst Rev. 2007;(4):
children. N Engl J Med. 2011;365:239-250. CD003772.
PART 10
AND KIDNEYS
24. Institute for Clinical Systems Improvement (ICSI). Preventive ser- 26. Cho BS, Hahn WH, Cheong HI, et al. A nationwide study of mass
vices for children and adolescents urine screening tests on Korean school children and implications
Clinical Systems Improvement (ICSI); 2011. Available at http:// for chronic kidney disease management. Clin Exp Nephrol.
www.guideline.gov/ content.aspx?id=35090&search=urinalysis+ 2013;17:205-210.
and+ 27. Conway PH, Cnaan A, ZaoutisT, et al. Recurrent urinary tract
Long-term follow-up guidelines for sur- infections in children: risk factors and association with prophylactic
vivors of childhood, adolescent, and young adult cancers. Sections 38- antimicrobials. JAMA. 2007;298(2):179-186.
after rst febrile urinary tract infection in children?A multi-

gov/ content.aspx?id=15470&search=urinalysis+and+screening, center, randomized, controlled, noninferiority trial. Pediatrics.
2008;122(5):1064-1071.
PART 10
AND KIDNEYS
65 HYDRO NEPHRO SIS SYNO NYMS

AND URETERO PELVIC
JUNCTIO N O BSTRUCTIO N
De b b y Chuang , MD
Lynn L. Woo, MD
EPIDEMIO LO GY
PATIENT STO RY
-
An otherwise healthy 7-year-old boy presents with a one day history of imately 20 to 30 percent involve the genitourinary system, with the
crampy left-sided abdominal and ank pain associated with nausea and majority being hydronephrosis. 1–4
non-bilious vomiting. He is afebrile and denies recent trauma. He is ~ Hydronephrosis is de ned as abnormal dilation of the renal
voiding and stooling normally. Exam is unremarkable except for some pelvis, with the anteroposterior diameter of the renal pelvis
tenderness to palpation over the left costovertebral angle. Urinalysis is measured to be ≥5 mm in the perinatal period. 5–7
negative for blood or infection. Serum creatinine is within normal limits. ~ Hydroureteronephrosis is de ned as abnormal dilation of the
Radiographic imaging reveals moderate left-sided hydronephrosis with- renal pelvis and ipsilateral ureter.
out ureteral dilation and an absence of stones or masses (Figure 65-1).
The contralateral kidney and bladder are normal. Renal function testing
is consistent with obstruction in the left kidney. The boy undergoes sur- accounting for approximately 40 percent of cases. 8
gical repair for ureteropelvic junction obstruction (UPJO). On follow-
up, he has resolution of hydronephrosis and his symptoms. UPJO in males, with the male-to-female ratio being greater than
2:1, as well as a predilection for occurrence on the left side, par-
ticularly among neonates. 9–12
INTRO DUCTIO N
cases. 10,11,13
Prenatal detection of congenital abnormalities has signi cantly increased
in the past two decades with advancements in ultrasound technology and
improvements in prenatal care. Common genitourinary abnormalities, RISK FACTO RS
such as hydronephrosis and UPJO, are not only being identi ed more
frequently in the perinatal period but are also being managed effectively -
in children at younger ages. Earlier treatment of such conditions is lies, 14–16 there is currently no established genetic predisposition
believed to improve the growth and development of the genitourinary for congenital UPJO.
~ However, recent studies have postulated that abnormalities in
system in these children as they mature into adulthood.
various factors involved in nephrogenesis, including bone mor-
-
ial cases of UPJO. 15,17–19
and non-renal abnormalities. 20

~ UPJO is found in ≥15 percent cases of horseshoe kidneys, and is
reported to also occur with malrotated kidneys. 12,21–25

~
kidneys, particularly pelvic kidneys, are due to UPJO. 25,26

~ Approximately 20 percent of children with VATER syndrome
have UPJO. 27
Figure 65-2).
~ Involves a congenital defect in which there is a narrowing of the
FIGURE 65-1 Ultrasound image of the left kidney. The ndings of hydro-
nephrosis with no dilation of the ureter are suggestive of ureteropelvic ureteral lumen at the ureteropelvic junction that is associated
junction obstruction (UPJO). (Used with permission from Lynn L. Woo, MD) with impairment of urinary transport and renal function.
PART 10
HYDRO NEPHRO SIS AND
URETERO PELVIC JUNCTIO N O BSTRUCTIO N THE GENITO RURINARY SYSTEM 417
AND KIDNEYS
FIGURE 65-4 Intra-op e rative vie w of UPJO with crossing ve sse l. The
ure te r is id e nti e d b y the ye llow ve sse l loop s, while the crossing ve sse l
is d e note d b y the re d ve sse l loop . Crossing ve sse ls typ ically arise from
the lowe r p ole of the kid ne y and cross ante rior to UPJ or p roximal
FIGURE 65-2 Intraop e rative imag e of p rimary cong e nital UPJO . The ure te r, re sulting in “kinking ” of the ure te r. Whe the r the ab e rrant ve sse l
ure te r is found to b e narrowe d and kinke d at the ure te rop e lvic junc- is the p rimary cause or a co-variab le that is associate d with intrinsic
tion. The re nal p e lvis is d ilate d and lle d with urine . (Used with permis- narrowing is uncle ar. (Used with permission from Lynn L. Woo, MD)
sion from Lynn L. Woo, MD)
~ True underlying etiology is still unknown but is believed to be most often secondary to severe vesicoureteral re ux or congeni-
likely multifactorial. 20,28 tal megaureter.
I Intrinsic factors (Figure 65-3).
□Incomplete recanalization of the ureter during embryologic
development. 29,30 DIAGNO SIS
□Abnormal ureteral muscle and brous tissue development
that affects ureteral peristalsis. 31,32 CLINICAL FEATURES
I Extrinsic factors (Figure 65-4). -
□
tal ultrasound imaging, or incidentally during imaging for pediatric
vessel, which can be seen in up to 63 percent cases of trauma, many infants and children will be asymptomatic.
UPJO. 33,34 ~ Hydronephrosis identi ed in the prenatal period may spontane-
ously resolve in the immediate postnatal period. 35

~ Obstruction develops as a result of kinking at the UPJ from a ~ Hydronephrosis identi ed in the perinatal period may remain sta-
severely dilated and tortuous ureter. The ureteral dilation is ble or spontaneously resolve as a child gets older, obviating the
A B
FIGURE 65-3 Patholog y of cong e nital ure te rop e lvic junction ob struction (UPJO ). A. Gross sp e cime n of kid ne y with cong e nital UPJO . The re nal
p e lvis and all calyce s are d ilate d , and the re is marke d loss of re nal p are nchyma. The ure te r d istal to the UPJ is of normal calib e r. B. Histolog ic vie w
of cong e nital UPJO at lowe r p owe r. Re nal p e lvic muscle is at far le ft. Muscle at the UPJ ap p e ars d iscontinuous, surround e d b y two collars of muscle ,
as ind icate d b y op p osing se ts of arrows, with d isorg anize d muscle b und le orie ntation, se p arate d b y p aucice llular collag e nous are as. (Used with
permission from Lynn L. Woo, MD)
PART 10
AND KIDNEYS
need for any intervention, especially in the absence of

symptoms. 36,37
~ Hydronephrosis is not necessarily indicative of obstruction.
~ Hematuria.
~ Urinary tract infection.
~ Failure to thrive.
Dietl’s crisis describes a combination of episodic upper abdominal

-
sis, which is associated with UPJO.
and vomiting, they may often undergo prior evaluation for gastro- FIGURE 65-6 Comp ute d Tomog rap hy of ab d ome n with intrave nous
contrast d e monstrating rig ht UPJO . The rig ht re nal p e lvis and calyce s
intestinal or psychological etiologies before the genitourinary etiol- are d ilate d , and contrast can b e se e n p ooling d e p e nd e ntly in the col-
ogy is identi ed and a referral to a pediatric urologist is made. 38,39 le cting syste m, while the normal le ft kid ne y shows normal e xcre tion of
contrast into the ure te r. (Used with permission from Lynn L. Woo, MD)
of the affected renal unit, kidney atrophy, pain, recurrent infec-

I Findings—Dilated renal pelvis with characteristic narrowing
or kinking at the UPJ and a distal ureter of normal caliber.
Figure 65-1).
~ Anatomic study.
to be due to rupture of mucosal vessels in the dilated renal pelvis.
~ Findings suggestive of UPJO:
I Hydronephrosis or dilated renal pelvis; AP diameter ≥5 mm in
the setting of a normal contralateral kidney, this would be unlikely. children.
~ In evaluating newborns, one must bear in mind that postnatal
I Non-visualization of the ureter is the rule (as a normal ureter is
serum creatinine will re ect maternal serum creatinine until at not dilated, it is usually not visible on US).
least 48 hours after birth. I Thinned parenchyma.
I Abnormal renal growth.
DIAGNO STIC STUDIES
Figure 65-5).
~ Anatomic study, typically performed at time of surgical repair.
(with or without contrast) (Figure 65-6).
~ Anatomic and functional studies, more often used in older
~ Allows con rmation of anatomical abnormality and helps exclude
children.
the possibility that the hydronephrosis is actually from a more ~ CT involves considerable radiation exposure and should therefore
distal obstructive lesion.
be minimized in children.
~ Findings suggestive of obstruction:
Dilated renal pelvis +

I
Narrowing of ureter at UPJ.

I
Crossing vessel.
I
Delayed uptake or excretion of contrast agent from the

I
affected kidney.
Figure 65-7).
~ Functional nuclear medicine study.
drainage.
I
mercaptoacetyltriglycine (MAG-3).
I Furosemide is administered during the study to promote diure-
sis of agent.
~ Findings suggestive of obstruction:
I Differential renal function of <40 percent in affected kidney.
I
FIGURE 65-5 Re trog rad e p ye log ram of le ft kid ne y. The p e lvis ap p e ars agent.
massive ly d ilate d with b lunte d calyce s. The re is also an are a of narrow-
ing at the p roximal ure te r, consiste nt with ure te rop e lvic junction ).
ob struction (UPJO ). (Used with permission from Lynn L. Woo, MD) ~ Normal: <10 minutes.
PART 10
AND KIDNEYS
A B
Kidney
3000 TMa x-R
Kidney
% 2500
100
2000
TMa x-L
d
n
o
1500 T1 /2 -R
c
e
S
/
s
t
1000
n
u
o
C
500
0
Fr:1 4452K 128×128 0
0 2 4 6 8 10 12 14 16 18 20 22 24 26 28 30 32
Minute s
C
Ta ble of Re s ults (S umma ry)
Pa ra me te rs Le ft Right Tota l
S plit Function (%) 28.0 72.0

Kidney Counts (cpm) 58037 149203 207240
Time of Ma x (min) 30.5 3.502
Time of 1 /2 Ma x (min) 7.980
FIGURE 65-7 MAG-3 Lasix Re nal Scan (inte rp re te d from a p oste rior vie w). A. Diffe re ntial re nal functio n. The rad io trace r up take is se ve re ly d imin-
ishe d in the le ft kid ne y (re d outline ), with the le ft kid ne y contrib uting only 28 p e rce nt to ove rall re nal function, and the rig ht kid ne y (ye llow outline )
contrib uting 72 p e rce nt to o ve rall re nal functio n. B. Re nal up take and e xcre tio n. The g rap h d e p icts the trace r up take and e xcre tio n p atte rn fo r
e ach kid ne y. The rig ht kid ne y (ye llow) q uickly take s up and e xcre te s the trace r. The time it take s to e xcre te ½ of the maximum trace r ag e nt that
was take n up is 7.98 minute s, which is co nsiste nt with no rmal re nal functio n. The le ft kid ne y (re d ) take s up the ag e nt, b ut d o e s no t e xcre te the
ag e nt in the d ocume nte d time p e rio d (30 minute s), as d e mo nstrate d b y the p late au, which is co nsiste nt with ob structio n. C. Summary o f re nal d if-
fe re ntial function and T1/2. (Used with permission from Lynn L. Woo, MD)
~ Indeterminate: 10 to 20 minutes.
~ Obstructed: >20 minutes. MANAGEMENT
DIFFERENTIAL DIAGNO SIS (O F PEDIATRIC may be obstructive or nonobstructive, referral to a pediatric urolo-
HYDRO NEPHRO SIS) (FIGURE 65-8) gist and close follow-up are necessary for optimal management.
expansion in the eld of pediatric urology, there has been a grow-

ing trend towards more conservative management for hydrone-
other bladder outlet obstruction). phrosis and UPJO. 40,41 SO R
~ -
gical intervention. 42
~ Current proposed indications for intervention.
43
IPersistent symptoms (pain, nausea, failure to thrive).

ISigni cant obstruction on diuretic renal scan.
IImpairment of overall renal function or abnormal renal growth.
IHypertension.
I
I Recurrent urinary tract infections.

PART 10
AND KIDNEYS
~ Even about 90 percent of children with UPJO in poorly func-

tioning kidneys (relative renal function <30%) will demonstrate
persistent improvement in post-operative renal function more
than three years after pyeloplasty. 46
and robotic pyeloplasty techniques, as well as in endoscopic proce-

dures, all of which are becoming more accepted alternatives to the
open dismembered pyeloplasty (Figure 65-10).
~ Recent studies have demonstrated that robotic and laparoscopic
techniques are feasible and safe, and may have success rates of
≥97 percent. 47,48 SO R
~ Endopyelotomy has been reported to have a 65 percent success
rate. 49
healing of the anastomosis.

~ Children with ureteral stents placed during the pyeloplasty will
FIGURE 65-8 Diffe re ntial d iag nosis for p re natal hyd rone p hrosis.65 As need to undergo a subsequent outpatient procedure for stent
most case s of p re natal hyd rone p hrosis will re solve in imme d iate p ost- removal approximately 2 to 6 weeks after the pyeloplasty.
natal p e riod , UPJO is the most common cause of p e rsiste nt hyd rone -
p hrosis in the p e rinatal p e riod . (Ad ap te d from Yamacake KG, Ng uye n
HT: Curre nt manag e me nt of ante natal hyd rone p hrosis. Pe d iatr Ne p hrol
2012;28(2):237-243. With kind p e rmission from Sp ring e r Scie nce and PREVENTIO N AND SCREENING
Busine ss Me d ia.)
I Development of stone disease.

is currently no known prevention for the development of UPJO.
I Renal failure. ~ In children with severe VUR or megaureter concurrently
INTERVENTIO N with secondary UPJO, early surgical repair may help to pre-
- -
bered pyeloplasty (Figure 65-9) has been considered the gold stan- rioration.
dard for treatment of pediatric UPJO, with success rates reported
to be ≥98 percent. 44,45 SO R prenatal ultrasound imaging, and patients may be referred to a
A B C
FIGURE 65-9 Illustration of d isme mb e re d p ye lo p lasty. A. The are a of ab normal ure te r is e xcise d . B. The ure te r is sp atulate d late rally. C.
The re nal p e lvis is the n re -anastomose d to the p roximal ure te r, re -e stab lishing continuity of the UPJ. (Re p rinte d with p e rmission, Cle ve land
Clinic Ce nte r for Me d ical Art & Photog rap hy © 2001-2013. All Rig hts Re se rve d .)
PART 10
AND KIDNEYS
FIGURE 65-10 Rob otic-assiste d lap aroscop ic p ye lop lasty. The p rincip le s of re p air are id e ntical to op e n d isme mb e re d p ye lop lasty. In this case, a
ure te ral ste nt was p lace d initially. A. The UPJ is id e nti e d . B. The UPJ is transe cte d , re ve aling narrowing at the re nal p e lvis. C. The p e lvis and sp atu-
late d ure te r are the n re -anastomose d ove r the ste nt. D. The comp le te d re p air. (Use d with p e rmission from Lynn L. Woo, MD)
pediatric urologist for prenatal counseling or shortly after birth, as lack of intra-operative retrograde pyelogram, and dorsal lumbot-
further imaging studies may be required. Cases of bilateral hydro- omy approach. 55,56
nephrosis should be followed closely in the prenatal period for
potential oligohydramnios. There are no additional screening studies
recommended for hydronephrosis or UPJO. FO LLO W-UP
ank or lateralizing abdominal pain should undergo evaluation for

renal function appears to be stabilized in the long term, there is still
infection, as well as renal and bladder ultrasound imaging for
a lack of consensus on the optimal amount time needed for
detection of possible underlying abnormalities.
follow-up time after pyeloplasty.
~ -
should be referred to a pediatric urologist for further work-up and
management. resolution of obstruction. 45,57
~
PRO GNO SIS referred back to their pediatrician as early as 2 years after UPJO
repair. 20
with pyeloplasty is reported to be as low as 1.3 percent after referred back to a pediatric urologist for management.
5 years. 50 ~ Recurrent UPJO may result from development of scar tissue or
~ Complete resolution of obstruction is typically seen in up to 94
percent children within the rst 3 to 6 months after pyelo- crossing vessel.
plasty. 44,46,51 ~ Children may be symptomatic or asymptomatic with recurrent
~ Preservation of renal function has been reported to persist at obstruction.
least 6 to 19 years after surgery, even into adulthood. 52–54 I Symptomatic children may present in a similar manner as their
~ Risk factors for recurrence are cited to be younger age of initial
surgery, prolonged urinary leakage, missed anatomical ndings, insuf ciency, or worsening hypertension).
PART 10
AND KIDNEYS
~ Imaging may demonstrate hydronephrosis and UPJ narrowing. REFERENCES

~
differential renal function. ultrasonography: the experience in a high risk perinatal center.
~ Indications for intervention are similar to those for initial UPJO J Pediatr Surg. 1986;21(4):358-361.
repair.
~
2. Elder JS. Antenatal hydronephrosis. Fetal and neonatal manage-
ment. Pediatr Clin North Am. 1997;44(5):1299-1321.
I Ureteral stent placement.
□
preserve renal function in the short-term, but not typically PH. Congenital renal tract anomalies: outcome and follow-up of
considered to be a long-term solution for children. 402 cases detected antenatally between 1986 and 2001. Ultrasound
Retrograde pyelogram performed at the time of stent place-
□ Obstet Gynecol. 2005;25(2):134-143.
ment may help to delineate the extent of obstruction and
length of ureter involved. of fetal hydronephrosis diagnosed on mid-trimester ultrasound.
~ Endopyelotomy. Ultrasound Obstet Gynecol. 2001;17(3):191-196.
I The area of ureteral obstruction can be directly visualized with
ureteroscopy and scar or stricture tissue may be excised with Oliveira DS, et al. Outcome of isolated antenatal hydronephrosis:
58
a prospective cohort study. Pediatr Nephrol. 2007;22(10):
I Success rates have been reported to be as high as 70 percent. 59 1727-1734.
~ Endoscopic balloon dilation.
I Endoscopic dilation of scarred tissue at the ureteropelvic
junction.
J Ultrasound Med. 2001;20(10):1065-1069.
I Success rates are variable when compared to endopyelotomy.58,60
~ Repair of obstruction with re-do pyeloplasty or ureterocalicostomy.
I Open, laparoscopic, and robotic techniques have been demon- do they mean? BJU Int. 2001;87(4):376-380.
strated to be safe, feasible, and effective, with success rates
reported to be >83 percent. 60–63 era of sonography. AJR Am J Roentgenol. 1987;148(5):959-963.
~ Nephrectomy. -
I Indications for nephrectomy include severe obstruction with phrosis in children: a review of 219 personal cases. J Urol. 1977;
signi cant brosis that may prevent surgical repair, poor dif- 117(1):97-101.
ferential renal function (usually <20%), decreased renal
practical protocol for management of prenatally detected hydro-
or persistent and severe symptoms. 64
nephrosis due to ureteropelvic junction obstruction. Pediatr Surg
I Considered to be the de nitive management for recurrent and
Int. 2009;25(1):61-67.
persistent UPJO in the setting of poor renal function.
infancy. J Pediatr Surg. 1976;11(1):57-61.

PATIENT RESO URCES
National Kidney Foundation A
Ureteropelvic junction obstruction in children. Urol Clin North
to Z Health Guide-Children
Am. 1980;7(2):273-290.
Foundation, Inc.; 2012. http:// www.kidney.org/ atoz/
content/ hydronephrosis.cfm.
patient with ureteropelvic junction obstruction need voiding
UPJ Obstruction
cystourethrography? J Urol. 2001;165(6):2305-2307.
http:// health.nytimes.com/
health/ guides/ disease/ upj-obstruction/ overview.html.
uropathology. Urology. 1979;13(2):153-154.
. In:
family with ureteropelvic junction obstruction. Urology. 2009;
74(1):116-118.
Saigal CS, eds. Urologic Diseases in America. US Department of
Health and Human Services, Public Health Service, National Ureteropelvic junction obstruction: its occurrence in 3 members
Institutes of Health, National Institute of Diabetes and Digestive of a single family. J Urol. 1978;120(3):361-364.
Of ce, 2007: 323-332. http:// kidney.niddk.nih.gov/ -

statistics/ uda/ Ureteropelvic_Junction_Obstruction- pelvic junction obstruction. Eur J Pediatr. 2012;171(3):451-456.
Chapter09.pdf.
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AND KIDNEYS
of the ureter and ureteropelvic junction. J Urol. 2009;181(1):

401-407. newborns with severe unilateral hydronephrosis initially treated
nonoperatively. J Urol. 2000;164(3):1101-1105.
Familial ureteral abnormalities syndrome: genomic mapping,
clinical ndings. Pediatr Nephrol. 1998;12(5):349-356. an observational approach. Urology. 2000;55(5):609-611.
clinical entity in the pediatric population. Int Braz J Urol. 2006;

Campbell-Walsh Urology, 10th ed.; 2011:3212-3235. 32(4):451-453.
39. Flotte TR. Dietl syndrome: intermittent ureteropelvic junction
J Urol. 1975;113(6):743-746. obstruction as a cause of episodic abdominal pain. Pediatrics.
22. Das S, Amar AD. Ureteropelvic junction obstruction with 1988;82(5):792-794.
associated renal anomalies. J Urol. 1984;131(5):872-874.
Frimberger D. Operative versus nonoperative management of
a review of 105 patients. J Urol. 1972;107(2):203-204. ureteropelvic junction obstruction in children. Urology. 2009;
73(3):521-525.
in patients with upper urinary tract anomalies. J Urol. 2004; Observation of infants with SFU grades 3-4 hydronephrosis:
171(1):77-79. worsening drainage with serial diuresis renography indicates
surgical intervention and helps prevent loss of renal function.
J Pediatr Urol. 2011;7(3):266-271.
AD. Endopyelotomy after failed pyeloplasty: the long-term results.
J Urol. 1998;160(3):690-693.
Halpren I, et al. Conservative treatment of ureteropelvic junction
obstruction in children with antenatal diagnosis of hydronephrosis:
in renal ectopia: incidence, etiology and signi cance. J Urol. 1994;
lessons learned after 16 years of follow-up. Eur Urol. 2006;49(4):
151(6):1660-1661.
734-738.
VATER association. J Urol. 1983;129(2):352-354.

Campbell-Walsh Urology, 10th ed; 2011:1122-1168.
differences between extrinsic and intrinsic ureteropelvic junction
obstruction. Urology 2010;76(1):181-184.
of pediatric pyeloplasty as a function of patient age, presentation
and differential renal function. J Urol. 1995;154(5):1889-1893.
CA, et al. Obstruction and recanalization of the ureter during
embryonic development. J Urol. 1991;145(2):410-416.
renogram ndings predict success following pyeloplasty. J Urol.
2001;165(6):2311-2315.
normal recanalization of the ureter in the human embryo. Its
relation to congenital ureteric obstruction. Eur Urol. 1975;
of pyeloplasty in poorly functioning kidneys in the pediatric age
1(6):287-293.
group. J Pediatr Urol. 2012;8(1):25-28.
and ultrastructure. Part II. Congenital ureteropelvic junction

obstruction and primary obstructive megaureter. J Urol. 1976;
116(6):725-730.
in aTeaching Center. Eur Urol. 2012;11.
-
renal pelvis. A histological and electron microscopic study. Br
comes of robot-assisted laparoscopic pyeloplasty in children: a
J Urol. 1978;50(3):145-152.
single center experience. J Endourol. 2012;26(3):249-253.
Endopyelotomy for Pediatric Ureteropelvic Junction Obstruction: A

ureteropelvic junction obstruction and crossing vessels. Urology.
J Urol. 2012;188(4):1628-1633.
2009;73(4):716-719.
dismembered pyeloplasty: how long is long enough? J Urol. 2003

in patients with normal ureteropelvic junction examined with
endoluminal ultrasound. J Urol. 2004;172(6):2304-2307.
Region Fetal Abnormality Survey. Arch Dis Child. 1993;68(1):

J Urol. 2010;184(3):1128-1133.
22-26.
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C, et al. The long-term results of Anderson-Hynes pyeloplasty. endoscopic pyelotomy in children with failed pyeloplasty. Urology.
BJU Int. 2001;87(4):287-289. 2011;77(6):1450-1454.
children: long-term followup after unilateral pyeloplasty. J Urol. a contemporary review. J Urol. 2005;174(6):2363-2366.
2003;170(1):575-579.
et al. Does renal function remain stable after puberty in children pyeloplasty after failed open pyeloplasty. Urology 2009;73(1):
with prenatal hydronephrosis and improved renal function after 115-118.
pyeloplasty? J Urol. 2009;182(4):1845-1848.
AE, et al. Risk factors for recurrent ureteropelvic junction junction obstruction. J Urol. 2003;169(6):2037-2040.
obstruction after open pyeloplasty in a large pediatric cohort.
J Urol. 2008;180(4):1684-1688. Analysis of robotic-assisted laparoscopic pyleloplasty for primary
versus secondary repair in 119 consecutive cases. Urology. 2012;
J Urol. 1996;156(2 ):738-740. 79(3):689-694.
57. Nirmal TJ, Singh JC. Follow-up after pyeloplasty: How long?
Indian J Urol. 2008;24(3):429-430.
single-center experience. J Pediatr Urol. 2009;5(2):87-89.
of secondary endopyelotomy after failed primary intervention for
ureteropelvic junction obstruction. Int J Urol. 2008;15(6):490-494. hydronephrosis. Pediatr Nephrol. 2012.
PART 10
PO LYCYSTIC KIDNEYS THE GENITO RURINARY SYSTEM 425
AND KIDNEYS
1
66 PO LYCYSTIC KIDNEYS The majority of cases
of ADPKD are diagnosed in adults but can be diagnosed at any
Mind y A. Smith, MD, MS age. 2 In a German population study, the overall prevalence of
in the 6th decade of life. 3
PATIENT STO RY
A 17-year-old boy is seen in the of ce with mild abdominal pain and

blood in his urine noticed after playing football with his friends. Exam is
signi cant only for left ank tenderness and his vital signs, including life, but can be diagnosed at any age.
blood pressure, are normal. His urine tests positive for blood (3+) and
1+ protein; microscopic urinalysis reveals numerous red blood cells but although this may be an underestimate as severely affected neonates
no white blood cells or casts. On further questioning, his mother reports do not survive beyond the rst few days of life and may not be cor-
that the boy’s father and paternal aunt have some type of “kidney prob- rectly diagnosed. 2
lem” but she and his father have been divorced for many years and he
rarely sees his father. An ultrasound reveals bilateral enlarged kidneys and females equally.
with multiple cysts and a calculus in the left kidney. A CT scan con rms
the diagnoses (Figure 66-1).
INTRO DUCTIO N
plasma membrane–spanning polycystin 1 (PKD1) and polycystin 2
Polycystic kidney disease (PKD) is a manifestation of a group of (PKD2). Polycystins regulate tubular and vascular development in
inherited disorders resulting in renal cyst development. In the most the kidneys and other organs (liver, brain, heart, and pancreas).
common form, autosomal-dominant polycystic kidney disease PKD1 and PKD2 are colocalized in primary cilia and appear to
(ADPKD), extensive epithelial-lined cysts develop in the kidney; in mediate Ca2+ signaling as a mechanosensor, essential for maintain-
some cases, abnormalities also occur in the liver, pancreas, brain, ing the differentiated state of epithelia lining tubules in the kidney
arterial blood vessels, or a combination of these sites. In autosomal and biliary tract.
recessive polycystic disease (ARPKD), the disease primarily causes
enlarged cystic kidneys and hepatic brosis and usually presents in
infancy. The cysts in ARPKD form only in the collecting tubule and remaining renal parenchyma shows varying degrees of tubular atro-
are smaller and typically not visible on gross examination. phy, interstitial brosis, and nephrosclerosis.
2
EPIDEMIO LO GY (Figure 66-2), spleen, pancreas, and ovaries; liver cysts are found
individuals.
FIGURE 66-2 CT scan showing multip le live r cysts and multip le cysts in
FIGURE 66-1 Polycystic kid ne ys in a p atie nt with he maturia. b oth kid ne ys in a p atie nt with p olycystic kid ne y d ise ase . (Use d with p e r-
(Use d with p e rmission from Michae l Fre ckle to n, MD.) mission from Ve sse lin Dimov, MD, Cle ve land Clinic, ClinicalCase s.org .)
PART 10
AND KIDNEYS
3
There is also an
with evidence of its sequelae (e.g., oligohydramnios, pulmonary
hypoplasia). 2
caused by genetic mutations in PKHD1 (polycystic kidney hepatic masses, hepatomegaly, hypertension, or respiratory distress due to
disease 1). This gene encodes the protein, brocystin/ polyductin, that pulmonary hypoplasia. 2
is localized to cilia/ basal body and complexes with PKD2. This large,
receptor-like protein is thought to be involved in the tubulogenesis presence of enlarged, echogenic kidneys and one or more of the
and/ or maintenance of duct-lumen architecture of epithelium. -
ously affected sibling; parental consanguinity; or clinical, labora-
a result of the oligohydramnios (Potter’s) sequence. 2 tory, or pathologic features of hepatic brosis. 2
- young adults with hepatic (portal hypertension, hepatomegaly)

related with creatinine clearance indicating a possible role for angio- and/ or renal disease. 2
genesis in the early progression of renal disease in these patients. 6 =
-
nervous system, digits, and/ or neural tube. cent had urinary tract infections, almost 1/ 3 had portal hypertension,
≥2.
7
This condi-
tion is usually diagnosed in young patients. Although PKD-associ-
ated gene mutations have been excluded in many cases, there is a Obtain a
familial form of GCK presenting with cystic kidneys, hyperurice- urinalysis to document hematuria and a complete blood count or
mia, and isosthenuria (concentration similar to plasma). 7 hemoglobin to identify anemia.
patients with a family history and typical appearance of bilateral

DIAGNO SIS
of ADPKD is not recommended due to nancial and psychosocial
Family history is a useful tool for diagnosing early ADPKD. concerns and lack of disease-speci c treatment; annual monitoring
of blood pressure and urine (hematuria, proteinuria) should be
CLINICAL FEATURES considered, with additional evaluation as needed. 2 In one retro-
spective study, renal outcomes were similar between children
on imaging studies done for other reasons. 2 with ADPKD diagnosed by screening or presenting with symp-
toms. 11
IMAGING
adolescents/ young adults even before overt hypertension is present. 2

depending on the type of PKD present. 12 For younger patients or
and adults with ADPKD. 2 those with small cysts, CT scan (Figures 66-1 and 66-2
2 following total kidney and cyst volume in children with ADPKD. 13

from the urinary tract, infection can result in abscess; persistent
fever and ank pain should raise suspicion even if the urine culture markedly enlarged echogenic kidneys, indicating the presence
is negative. 2 of numerous microscopic cysts not discernible by ultrasound
(Figure 66-3). 2
percent of affected individuals because of urinary stasis from distor- absent in neonates.
tion of the collecting system, low urine pH, and low urinary
citrate. Kidney stones are uncommon in children, but have been looks similar to ADPKD. 2
reported in children as young as age 11 years. 8
isolated unilateral cysts. 2
ability. the nding of a single cyst in a patient at-risk for ADPKD is consid-
ered diagnostic by some authors.
increased mean arterial pressure. been reported to be the optimal test.

PART 10
AND KIDNEYS
-
e cial are avoidance of caffeine, consumption of soy-based protein
or axseed, and increased water consumption; none have been
tested in human studies. 2
analgesics, and hydration suf cient to increase the urinary ow rate
in a few days. SO R
MEDICATIO NS
-
cular disease. SO R
=
ADPKD and hypertension), no differences in renal function, uri-
nary albumin excretion, or left ventricular mass index were
detected between those treated with ramipril versus metoprolol,
FIGURE 66-3 Autoso mal-d ominant p olycystic kid ne y d ise ase in
an e ig ht-ye ar-old b oy. Note the multip le b rig ht e choe s throug h
during 3 years of follow-up. Renal function declined signi cantly
b oth kid ne ys d ue to many inte rface s of the nume rous small cysts. in both groups. Angiotensin-converting enzyme (ACE) inhibitors
(Use d with p e rmission from Karl Re w, MD.) and angiotensin receptor blockers are the traditionally used agents
for children with chronic kidney disease, including ADPKD and
ARPKD, and hypertension but have not been tested in this popula-
tion. SO R Patients with ARPKD can require several medications
Figure 66-2), spleen, pancreas, and ovaries. to control hypertension. 2
diagnosis and disease exclusion in subjects at risk of PKD1 (the ADPKD already on an ACE inhibitor to assess the effect of pravas-
more severe disorder), but criteria for at-risk children have not tatin treatment on renal and cardiovascular disease progression. 21
been established. 2
that penetrate cysts such as trimethoprim-sulfamethoxazole and
cystic kidney diseases. 16 cipro oxacin are used. SO R
-
ing disease pathogenesis. Experimental and observational studies
2
DIFFERENTIAL DIAGNO SIS suggest that the mammalian target of rapamycin (mTOR) pathway
plays a critical role in cyst growth.
=
cysts; cyst development preceded by renal failure. kidney volume over placebo but not the progression of renal
- impairment. 22 =
omyolipomas; inherited nonmalignant tumors grow in the skin, and early chronic kidney disease) of the mTOR inhibitor sirolimus
brain/ nervous system, kidneys, and heart. did not show slowing of kidney growth or improved function over
standard care. 23
MANAGEMENT placebo for patients with polycystic liver disease (some of whom
had ADPKD), patients with ADPKD randomized to octreotide
The current role of therapy in PKD is to slow the rate of progression had a stabilization of kidney volume (versus an increase in the con-
of renal disease and minimize symptoms. However, speci c treat- trol group) and all patients randomized to treatment showed a
ments are on the horizon. reduced liver volume; there was no difference between groups in
GFR.
NO NPHARMACO LO GIC
SURGERY AND O THER PRO CEDURES
decreased the decline in glomerular ltration rate (GFR) in clinical
trials. 17,18 painful cysts. SO R Alternatives include decortication (unroo ng
of the cyst) or denervation. 2
agent) showed a trend towards decreasing mortality, and increased -
intensity of antihypertensive therapy was associated with decreasing formed, with good outcomes reported at experienced centers;
mortality in people with ADPKD. this is rarely a problem in children. SO R
PART 10
AND KIDNEYS
dialysis are options. age 8 years, of whom 7 had ARPKD). -

- tive bleeding complications and three required operative revision for
= -
out ADPKD), patients with ADPKD had better graft survival and
no difference in infections, but more thromboembolic complica-
tions, more metabolic complications, and increased incidence of
hypertension. 26 36
2
patients with PKD and signi cant liver involvement. 2 -

lyte abnormalities and hypertension. 2 In the case series noted above
REFERRAL months, arterial hypertension was detected in 76 percent of the cases
should be managed by a team of providers as they often require CKD ≥

dialysis or kidney transplantation and can develop multiple compli-
cations; other considerations include anemia management, aneu-
rysm screening pre-transplantation, and nephrectomy of the native
ADPKD kidneys. 27 SO R FO LLO W-UP
pyelonephritis and symptomatic cyst infection.

posttransplantation diabetes mellitus; imaging to assess the rate of
increased kidney and total cyst volume can be useful in prognosis. 37
-
PRO GNO SIS
tions to adjust for level of kidney function and avoid nephrotoxic
drugs if possible. SO R
- -
apy typically develops in the fourth to sixth decade of life. 26 abolic acidosis, anemia, metabolic bone disease) is also needed,
- particularly in children with ARPKD. 2
comes compared to those with other causes of kidney failure. 28
ARPKD where feeding can be hampered by massively enlarged
kidneys impinging on the stomach and creating early satiety and
~ Greater serum creatinine (independent of GFR). gastroesophageal re ux. Enteral feedings are often needed to
~ Greater urinary protein excretion. ensure adequate calories and nephrectomy is sometimes
~ considered. 2
~ Young age.
2
~ Increased kidney volume (> ARPKD, although cyst infection and abscess is uncommon in those
~ Disease caused by PKD1 mutation. with ARPKD (for whom standard antimicrobials are usually ade-
~ The presence of tubulointerstitial brosis. 31 quate). 2
~
32
patient/ year and those with persistent asymptomatic pyuria experi-

have normal renal function throughout childhood. 2 =
hypertension). 38
death to causing minimal kidney disease presenting later in life.
- congenital hepatic brosis (also called Caroli’s disease) should be

cent.33 monitored yearly by a hepatologist for complications associated
- with portal hypertension, including periodic endoscopy for esopha-
cence. 2 2 geal varices and monitoring for cholangitis. 2 These children are also
prone to splenomegaly causing anemia, thrombocytopenia, and leu-
kopenia and are at increased risk of cholangiocarcinoma. 2
ARPKD who underwent renal transplantation with or without liver
-
28
-
tions (recurrent angiocholitis) or severe dilatation of hepatic bile
ducts. routinely recommended for asymptomatic patients; diagnostic
PART 10
AND KIDNEYS
testing should be considered in patients with ADPKD and new- autosomal dominant polycystic kidney disease. Kidney Int
onset or severe headache or other central nervous system symp-
toms or signs. 2
Arch Pathol Lab Med.
PATIENT EDUCATIO N
Autosomal Dominant Polycystic Kidney Disease who presented
with nephrolithiasis. Case Rep Med
develop in half of their offspring) and prognosis to patients. Refer-
ral to a genetic counselor may be useful for patients considering
childbearing. Preimplantation genetic screening for ARPKD is
possible. renal disease in Danish patients with autosomal dominant poly-
cystic kidney disease. Kidney Int
autosomal recessive polycystic kidney disease. J Bras Nefrol
(e.g., boxing). 2
children with ADPKD diagnosed by screening or presenting with
uncomplicated but the risks of severe hypertension and pre- symptoms. Pediatr Nephrol
eclampsia are higher than those in the general population when
-
elevated blood pressure or renal insuf ciency is present before
conception.
for diagnosis. Radiology.
PATIENT RESO URCES

resonance imaging of kidney and cyst volume in children with
ADPKD. Clin JAm Soc Nephrol
www.kidney.org.
autosomal dominant polycystic kidney disease. Clin JAm Soc
www.nkdep.nih.gov. Nephrol
Polycystic Kidney
Disease www.ncbi.nlm.nih.gov/ pubmedhealth/ Semin Nephrol
PMH0001531/ .

Polycystic Kidney Disease www.emedicine detection. Pediatr Nephrol
blood pressure control, and the progression of polycystic kidney
JAm Soc Nephrol.

REFERENCES
of standard versus rigorous blood pressure control in autosomal-

Harrison’s
Principles of Internal Medicine
prospective randomized study. J Am Soc Nephrol.
-
Adv Chronic Kidney Dis
pertensive medications and mortality of patients with autosomal
Am
J Kidney Dis.
south-western Germany. Nephrol Dial Transplant
[Epub ahead of print].
antihypertensive treatment with ramipril vs metoprolol in auto-
Ann somal dominant polycystic kidney disease. Nephrol Dial Transplant.
Transplant.
Annu Rev Med.
and baseline characteristics of participants. Contemp ClinTrials.

factors correlate with disease severity in young patients with
PART 10
AND KIDNEYS
autosomal dominant polycystic kidney disease. N Engl J Med. predictors of progression of chronic kidney disease in autosomal
Clin Exp Nephrol

growth in autosomal dominant polycystic kidney disease. N Engl -
J Med.
survivors. Pediatr Nephrol
of long-acting somatostatin for autosomal dominant polycystic -
kidney and liver disease. J Am Soc Nephrol. tion in patients with autosomal recessive polycystic kidney dis-
Nephrol Dial Transplant.
therapeutic approaches. BMB Rep.

- outcome of combined liver and kidney transplantation in chil-
tation in patients with autosomal dominant polycystic kidney dren. Transpl Int
Transpl Int. -
sis in autosomal dominant polycystic kidney disease patients.
Clin JAm Soc Nephrol
autosomal dominant polycystic kidney disease. Adv Chronic Kidney
Dis. dominant polycystic kidney disease. Nat Rev Nephrol
-
plantation in patients with autosomal dominant polycystic kidney 38. Hwang JH, Park HC, Jeong JC, et al. Chronic asymptomatic
Transpl Int. pyuria precedes overt urinary tract infection and deterioration
of renal function in autosomal dominant polycystic kidney
blood pressure control, and the progression of polycystic kidney

JAm
Soc Nephrol. following preimplantation PKHD1 haplotyping for autosomal
recessive polycystic kidney disease using multiple displacement
disease. Nephron Clin Pract. ampli cation. JAssist Reprod Genet
-
cystic kidney disease (ADPKD). Biochim Biophys Acta. with autosomal dominant polycystic kidney disease. Am J Kidney
Dis.
PART 10
NEPHRO TIC SYNDRO ME THE GENITO RURINARY SYSTEM 431
AND KIDNEYS
67 NEPHRO TIC SYNDRO ME far the most common etiology of nephrotic syndrome in childhood
and carries an excellent long-term renal prognosis.
Charle s Y. Kwon, MD
Rae d Bou Matar, MD
Halima S. Janjua, MD SYNO NYM
PATIENT STO RY
EPIDEMIO LO GY
A 3-year-old boy has had intermittent facial swelling for the
past 3 weeks. Symptoms were self-limited and attributed to seasonal
allergies. He awoke with signi cant periorbital and facial edema
(Figure 67-1), and pitting edema to his mid-tibia bilaterally. He
denies any abdominal pain, headache, rash, or gross hematuria. His
evaluation reveals a normal blood pressure, normal renal function,
and 4+ protein on a urine dipstick. He was presumptively diagnosed
with minimal change disease and started on a course of prednisone.
His edema gradually subsided (Figure 67-2) and his proteinuria ETIO LO GY AND PATHO PHYSIO LO GY
resolved within the rst two weeks of therapy.
signi cant proteinuria. Protein losses result in hypoalbuminemia.

INTRO DUCTIO N This produces edema, typically facial, lower extremity, and genital.
The etiology of the associated hyperlipidemia is not fully elucidated.
Nephrotic syndrome is a tetrad of signs and symptoms: proteinuria
(>50 mg/ kg/ day), hypoalbuminemia (serum albumin <3 gm/ dL), nephrotic syndrome, little is known about the disease etiology.
edema, and hyperlipidemia. Prognosis is largely dependent on the The most common hypothesis involves an unidenti ed circulating
glomerular etiology of the proteinuria. Minimal change disease is by factor.
A B
FIGURE 67-1 Sig ni cant facial e d e ma o n frontal (A) and late ral (B) vie ws in a 3-ye ar-old b oy se cond ary to mini-
mal chang e d ise ase . (Use d with p e rmission fro m Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
PART 10
AND KIDNEYS
FIGURE 67-2 Re solution of facial e d e ma in the same child from g ure FIGURE 67-3 Young b oy with ne p hrotic synd rome and malnutrition in
67-1 following a course of p re d nisone . (Use d with p e rmission from Africa. Note the p romine nt p e riorb ital e d e ma from the low alb umin
Cle ve land Clinic Child re n’s Hosp ital Photo File s) d ue to the comb ination of re nal p rote in loss and malnutrition. The re d
hair is a sig n of kwashiorkor. (Use d with p e rmission from Richard P.
Usatine , MD.)
volume. It may also indicate a different etiology, such as focal

RISK FACTO RS
- -
3
ness, often an upper respiratory infection.
IMAGING
DIAGNO SIS
nephrotic syndrome unless a biopsy is planned.
CLINICAL FEATURES Figure 67-4).
Figures 67-1 and
67-3).
hematuria has also been rarely described with minimal change dis-
ease and is more indicative of glomerulonephritis. 5 ~ Minimal change disease.
I
LABO RATO RY TESTING I
~ Focal segmental glomerulosclerosis—To be considered when
histologically (Figure 67-5).

fatty casts (acellular casts containing fat droplets).
~ Most glomerulonephritic disorders can have associated nephrotic

syndrome.
change disease. I IgA nephropathy.
I Post-streptococcal glomerulonephritis.
secondary to signi cant third-spacing and decreased intravascular I Systemic lupus erythematosus.
PART 10
NEPHRO TIC SYNDRO ME THE GENITO RURINARY SYSTEM 433
AND KIDNEYS
MANAGEMENT
SUPPO RTIVE
a comparatively minor role and is typically not aggressively pursued

except in patients who are hyponatremic.
of intravascular volume depletion.
transient. 4
-
tis and thrombotic disease, is important.
MEDICATIO NS
-
imal change disease.
-
come. 3,7 SO R
~ Steroid-responsive—Patients who respond and are successfully
FIGURE 67-4 Mild p ulmonary e d e ma on che st x-ray of a 5-ye ar-old weaned off steroids. High likelihood of long-term remission.
g irl with ne p hrotic synd rome . (Use d with p e rmission from Camille
~ Steroid-dependent—Patients who respond but cannot be fully
Sab e lla, MD.)
weaned off steroids. Typically require alternative immunosup-
pression to maintain long-term remission.
~
~ Infection can have associated nephrosis.
I
dif cult to achieve and risk of eventual chronic kidney disease
is high.
IHIV.
ISyphilis.
~ Malignancy—Very rare cause of nephrotic syndrome. immunosuppression.
~
SURGERY
~
structural protein important in podocyte function. who are steroid-resistant or who present with evidence of glomer-
casts). SO R
REFERRAL
with expertise in management of pediatric renal disorders.
SCREENING
not alter patient outcomes.
FO LLO W-UP
>50 percent risk of
FIGURE 67-5 Focal se g mental g lome rulosclerosis seen on lig ht micros- triggered by acute illnesses. While these relapses typically do
copy. Note the collap se d and scle rotic tuft se e n in the visualize d
g lomerulus. (Used with p ermission from Ke mp , Burns, Brown, Patholog y: require additional steroids, the occurrence of a relapse does not
The Big Picture . Fig ure 16-2. www.acce ssmed icine .com. McGraw-Hill ). alter the patients’ favorable long-term prognosis. 7
PART 10
AND KIDNEYS
as primary peritonitis and thrombotic disease, is important. Kidney Int
PATIENT RESO URCES

nephrotic syndrome in children: recommendations from a pediatric
http:// kidneyweb.net/ handouts.
nephrology panel established at the National Kidney Foundation
htm.
conference on proteinuria, albuminuria, risk, assessment, detection,
www.uptodate.com/ contents/ the-nephrotic- Pediatrics
syndrome-beyond-the-basics.
children with nephrotic syndrome. Pediatrics
http:// emedicine.medscape.com/ article/ 982920- syndrome. Pediatr Nephrol
overview.
Nephrotic syndrome in the rst year of life: two thirds of cases

REFERENCES
Arbeitsgemeinschaft für Paediatrische Nephrologie Study
from clinical and laboratory characteristics at time of diagnosis. Group. Pediatrics
Kidney Int signi cance of the early course of minimal change nephrotic
histopathologic variants of minimal change and of diffuse mesangial J Am Soc Nephrol

PART 10
NEPHRITIC SYNDRO MES THE GENITO RURINARY SYSTEM 435
AND KIDNEYS
68 NEPHRITIC SYNDRO MES ETIO LO GY AND PATHO PHYSIO LO GY

Rae d Bou Matar, MD
Charle s Y. Kwon, MD
Halima S. Janjua, MD
skin infection involving a nephritogenic strain of group A beta-
hemolytic streptococci.
PATIENT STO RY complement mediated cascade of in ammatory glomerular injury. 2

-
An 8-year-old girl presents to the emergency room with severe head-
ache and tea-colored urine of 2 days duration (Figure 68-1). She has nephropathy, Henoch-Schonlein purpura, infectious glomerulo-
just completed a 10-day course of amoxicillin for streptococcal phar- nephritis (commonly associated with endocarditis), and post-
yngitis. Her blood pressure upon arrival is 132/ 88. She is diagnosed infectious glomerulonephritis due to other bacterial, viral, or
with probable post-streptococcal glomerulonephritis and treated with parasitic etiologies.
salt restriction and a diuretic, and recovers.
rapid loss of renal function (over a period of days to weeks) and the
presence of glomerular crescents on renal biopsy (Figure 68-2 -
INTRO DUCTIO N resents the most severe presentation of any form of acute nephritis.3
Nephritic syndrome is characterized by gross hematuria, acute kidney
injury and retention of salt and water (manifested as hypertension DIAGNO SIS
with/ without edema).
CLINICAL FEATURES
SYNO NYMS gross hematuria (tea-colored urine; Figure 68-1), oliguria,

elevated blood pressure, and/ or generalized edema.
Acute glomerulonephritis, acute nephritis.
pharyngitis and 3 to 6 weeks following streptococcal skin infection.
-
EPIDEMIO LO GY monly occurs concurrently with an upper respiratory infection.
-
scopic hematuria detected on urinalysis. 4
less than 3 years of age.

1
-
tion in serum creatinine.
1
developing countries.
con rm the glomerular origin of hematuria (Figure 68-3).
FIGURE 68-1 Te a-colore d urine sug g e stive of g lo me rular g ro ss

he maturia. (Use d with p e rmission from Rud olp h’s Pe d iatrics, FIGURE 68-2 Ce llular cre sce nts. (Use d with p e rmission from Harrison’s
22nd e d ition, e Fig ure 467.1, McGraw-Hill.) Princip le s of Inte rnal Me d icine , 18th e d ition, Fig e 14-14A, McGraw-Hill).
PART 10
AND KIDNEYS
FIGURE 68-4 Post-stre p tococcal g lome rulone p hritis. Glome ruli show
p rolife rative chang e s with an in ammatory in ltrate on lig ht micros-
cop y. (Use d with p e rmission from Harrison’s Princip le s of Inte rnal
Me d icine , 18th e d ition, Fig e 14-6A, McGraw-Hill.)
low beyond 8 weeks following the disease onset, indicating chronic

immune complex deposition.
FIGURE 68-3 Red blood ce ll cast. (Used with p e rmission from Ag nes B.
Fog o, MD.)
post-streptococcal glomerulonephritis. glomerulonephritis presents following a 1- to 2-week latency

~ -
~
rash commonly involving the lower extremities and buttocks.

~ Streptozyme test measures ve different streptococcal antibod-
A streptococcal infection.
~
MANAGEMENT
antibodies suggest lupus nephritis.
no known speci c treatment and the management is generally supportive.
RENAL BIO PSY
The diagnosis of post-streptococcal glomerulonephritis is typically based
on clinical and laboratory ndings. A renal biopsy is only indicated in
atypical presentations or when an alternative etiology is suspected.
-
lonephritis include diffuse (involving all glomeruli) cellular prolif-
eration on light microscopy (Figure 68-4), coarse granular pattern
Figure 68-5), and
sub-epithelial hump-like immune deposits on electron microscopy
(Figure 68-6 Figure 68-2)
indicates rapidly progressive glomerulonephritis.
Figure 68-7 FIGURE 68-5 Post-stre p tococcal g lome rulone p hritis. Immuno uore s-
ce nce shows C3 and Ig G d e p osits localize d to the me sang ium and
undistinguishable from post-streptococcal glomerulonephritis at along the cap illary walls. (Use d with p e rmission fro m Harrison’s Princi-
p le s of Inte rnal Me d icine , 18th e d ition, Fig e 14-6B, McGraw-Hill.)
PART 10
NEPHRITIC SYNDRO MES THE GENITO RURINARY SYSTEM 437
AND KIDNEYS
hyperkalemia), volume overload, or uremia. SO R
glomerulonephritis. 6 SO R
REFERRAL
dysfunction should be referred to a specialist with expertise in

management of renal disorders.
Antibiotic therapy has not been shown to decrease the risk of post-
streptococcal glomerulonephritis, but may prevent the spread of
nephritogenic group A streptococcal strains to other individuals.
PRO GNO SIS
FIGURE 68-6 Post-stre p tococcal g lome rulone p hritis. Ele ctron micros-
cop y re ve als the typ ical sub -e p ithe lial hump -like immune d e p osits. excellent prognosis with complete or near complete recovery from
(Use d with p e rmission from Harrison’s Princip le s of Inte rnal Me d icine , their disease.
18th e d ition, Fig e 14-6C, McGraw-Hill.)
progress to end-stage renal disease. 3

NO NPHARMACO LO GIC
nature and severity of the underlying etiology.
swelling. SO R
PATIENT RESO URCES
MEDICATIO NS www.nlm.nih.gov/ medlineplus/ ency/ article/
000503.htm.
the acute illness. SO R
hypertension. SO R www.emedicine.medscape.com/ article/ 240337-
overview.
REFERENCES
-
cal glomerulonephritis. J Am Soc Nephrol
Kidney Int.
Kidney Int
-
The Lancet.
FIGURE 68-7 Me mb ranop rolife rative g lome rulone p hritis. Lig ht pathogenesis. Pediatric Nephrology
microscop y shows me sang ial e xp ansion and e nd ocap illary p rolife ration -
re sulting in the typ ical “tram-track” d up lication of g lo me rular b ase -
me nt me mb rane . (Use d with p e rmission from Harrison’s Princip le s of tion, pathogenetic mechanisms, and therapy. Am J Kidney Dis.
Inte rnal Me d icine , 18th e d ition, Fig e 14-9, McGraw-Hill.)
PART 10
AND KIDNEYS
69 HEMO LYTIC UREMIC

SYNDRO ME
Kshama Dap htary, MBBS, MD, FAAP
PATIENT STO RY
A 4-year-old boy presents to his pediatrician because of swelling over

the face, malaise, fatigue, and decreased appetite. On further question-
ing, his parents state that he appears pale and has reduced urine out-
put. He recently nished a course of antibiotics for bloody diarrhea.
On exam, he is found to be hypertensive and pale and has anasarca.
Initial laboratory studies show a hemoglobin of 7 g/ dL, platelet count
of 44,000/ mm3, blood urea nitrogen of 39 mg/ dL and creatinine of
2.9 mg/ dL. Peripheral smear shows the presence of schistocytes and a FIGURE 69-2 Schistocyte s (frag me nte d “he lme t” ce lls) and p aucity of
p late le ts, characte ristic fe ature s of he molytic ure mic synd rome on
paucity of platelets (Figures 69-1 and 69-2). He is admitted to the b lood p e rip he ral sme ar, low mag ni cation. (Use d with p e rmission from
pediatric intensive care unit for hemolytic uremic syndrome. He is Me g an Nakashima, MD.)
treated conservatively with close attention to uid intake and output,
restriction of sodium and uid intake, and antihypertensive medica-
tions as needed. A stool culture obtained at the onset of his bloody
diarrhea grows Escherichia coli and is identi ed as serotype O157:H7.
Hemoglobin declines to 5.2 g/ dL for which he is transfused packed SYNO NYMS
red blood cells. Platelet count decreases over the next few days and
then improves. He has no evidence of bleeding. Azotemia and oliguria +) HUS, Shiga toxin-producing
improve over a week, appetite improves and anasarca resolves. He is Escherichia coli (STEC) HUS, verocytotoxin producing Escherichia
discharged home with an excellent prognosis for full recovery. coli (VTEC) HUS, or Shiga-like toxin associated (Stx) HUS.
−) HUS and non-Shiga-like
toxin associated (non-Stx) HUS.
INTRO DUCTIO N
The hemolytic uremic syndrome (HUS) was rst described in 1955

by Gasser et al. 1 HUS is a thrombotic microangiopathy characterized EPIDEMIO LO GY
by a triad of hemolytic anemia, thrombocytopenia and acute kidney
2
injury.
3
approximately 6 cases per 100,000 per year. 4
reported in Argentina. 5
-
tion for HUS, thrombotic thrombocytopenic purpura (TTP) and
related disorders, which is summarized in Table 69-1. 6
-
opathy, characterized by thickening of arteriole and capillary walls,
with prominent endothelial damage (swelling and detachment),
subendothelial accumulation of proteins and cell debris, and brin
FIGURE 69-1 Schistocyte s (frag me nte d “he lme t” ce lls) and p aucity of and platelet-rich thrombi obstructing vessel lumina.
p late le ts, characte ristic fe ature s of he molytic ure mic synd rome on
b lood p e rip he ral sme ar, hig h mag ni cation. (Use d with p e rmission
from Me g an Nakashima, MD.) +) HUS, primarily triggered
PART 10
HEMO LYTIC UREMIC SYNDRO ME THE GENITO RURINARY SYSTEM 439
AND KIDNEYS
TABLE 69-1 Classi cation of HUS, TTP and Re late d Disord e rs

RISK FACTO RS
Et io lo g y Ad vance d
1. Infe ction-ind uce d E coli
a. Shig a and Shig a-like toxin-p rod ucing b acte ria O157:H7 develop HUS. 10,11
(EHEC, S. d yse nte riae typ e 1)
b . S. p ne umoniae associated with subsequent development of HUS. 11
2. Disord e rs of comp le me nt re g ulation
a. Ge ne tic either upper respiratory tract infections or gastroenteritis. 9 Other
b . Acq uire d triggers reported are varicella, H1N1 in uenza and, interestingly,
3. ADAMTS13 d e cie ncy Shigatoxin associated diarrheal illness. 9
a. Ge ne tic
b . Acq uire d
4. De fe ctive cob alamin me tab olism
5. Q uinine -ind uce d DIAGNO SIS
Et io lo g y Unkno wn
CLINICAL FEATURES
1. HIV infe ction
+) HUS develop diarrhea about 2 to 5 days after
2. Malig nancy, cance r che mothe rap y, ionizing rad iation
contracting a Shiga toxin-producing bacterial infection. 4 The
3. Calcine urin inhib itors and transp lantation
4. Pre g nancy HELPP synd rome , contrace p tive p ill
of the strain, 10 to 15 percent (25% in the German outbreak of
5. Syste mic lup us e rythe matosus, anti-p hosp holip id
2011 with E coli O104:H4) of cases present with features of HUS
antib od y synd rome
3 to 8 days later. 12
6. Glome rulop athy
7. Familial not includ e d in Box 1
8. Unclassi e d (Figure 69-3), poor feeding, vomiting, fatigue, drowsiness, and
sometimes generalized edema. Often, there is oliguria or anuria,
Ad ap te d with p e rmission from Arice ta G, Be sb as N, Johnson S, hypertension, and signs of uid overload and anemia.
Karp man D, Land au D, Licht C, e t al. Guid e line for the inve sti-
g ation and initial the rap y of d iarrhe a ne g ative he molytic ure mic central nervous system involvement including irritability, altered
synd rome . Pe d iatr Ne p hrol. 2009;24(4):687-696. level of consciousness, and seizures, which usually develop after
the onset of HUS. 12
made. Atypical HUS should be considered if the presentation is

before 6 months of age, onset is insidious, and there is a history of
by preceding diarrheal illness with Shiga toxin-producing Ecoli, previous episode of HUS, previous unexplained anemia, asynchro-
mostly serotype O157:H7. This form accounts for 90 percent of all nous family history of HUS or HUS following transplantation of
cases of HUS. 7 any organ. 8
sporadic form.
caused by defective complement regulation in the majority of

cases. 7,8 Mutations have been identi ed in genes encoding the
regulatory proteins of the complement alternative pathway,
complement factor H (CFH), membrane cofactor protein (MCP
H-related proteins (CFHR) as well as complement activators,

complement factor B (CFB) and C3 as well as thrombomodulin
-
tional 5 to 10 percent of cases and can occur in isolation or in asso-
ciation with these mutations. 7
9
Seventy
percent of children have the rst episode before the age of 2 years
and approximately 25 percent before the age of 6 months. 9
FIGURE 69-3 Lip p allor evid e nt in this ad olescent with he molytic uremic
+) HUS occurs in children synd rome and a he mog lob in of 5 g /d L. (Use d with p e rmission from
below the age of 6 months. 9 Binita R. Shah, MD, www.acce sse me rg e ncyme d icine .com.)
PART 10
AND KIDNEYS
LABO RATO RY TESTING been known to occur. These patients also require a full investiga-
HUS is de ned by the simultaneous appearance of: tion for alternative causes of HUS (see Table 69-3). 8
-
should be screened rst, regardless of whether C3 plasma concen-
mented erythrocytes (schistocytes) (see Figures 69-1 and 69-2),
tration is decreased or not. If onset is after infancy and C3 level is
undetectable haptoglobin levels and elevated lactate dehydrogenase
normal, MCP mutation should be investigated. Anti-CFH antibodies-
HUS is common after the age of approximately 7 years and in pre-
3
). adolescents and adolescents. Patients in these age groups should
be screened for anti-CFH antibodies especially if C3 concentration
is decreased. At any age, if no mutation is found in CFH, CFI,
seen.
undertaken.
Table 69-2 shows the investigative work up recommended for aHUS as manifestations of aHUS and TTP may overlap. Blood must
patients with HUS and is also a owchart that aids in the recognition be collected before transfusion of fresh frozen plasma (FFP) or
of aHUS. 8
normal is suggestive of TTP.
bloody diarrhea should be investigated for enterohemorrhagic E coli
(EHEC) or Shigella dysenteriae. Even if there is no recent diarrheal with methylmalonic aciduria) is mandatory.
illness or if there is recent diarrhea and the presence of atypical fea-
tures, investigate for EHEC infection as unusual presentations have transplant HUS require an investigation of the complement system.
TABLE 69-2 Work Up for HUS and Re cog nition of Atyp ical HUS
HUS
Dia rrhe a or Inva s ive S . pne umonia e No re ce nt dia rrhe a

bloody dia rrhe a in infe ction OR
the 2 we e ks be fore Re ce nt dia rrhe a but a ny one of
dia gnos is of HUS the following:
AND Age <6 months
Age >6 months Ins idious ons e t
AND Re la ps e of HUS
EHEC or S us pe cte d pre vious HUS
S . dys e nte ria e P re vious une xpla ine d a ne mia
e nde mic re gion HUS pos t-tra ns pla nta tion of
a ny orga n
As ynchronous fa mily his tory of
HUS
EHEC or S .
dys e nte ria e P ne umococcus -
like ly to be induce d HUS Re quire s full inve s tiga tion for
the only like ly to be the a lte rna tive ca us e of HUS .
ca us e only ca us e Inve s tiga te for EHEC
EHEC- e nte rohe morrhag ic Esche richia coli.

Ad ap te d with p e rsmission from Arice ta G, Be sb as N, Johnson S, Karp man D, Land au D, Licht C, e t al.
Guid e line for the inve stig ation and initial the rap y of d iarrhe a ne g ative he molytic ure mic synd rome .
Pe d iatr Ne p hrol. 2009; 24(4):687-696.
PART 10
AND KIDNEYS
TABLE 69-3 Inve stig ations for Patie nts with Susp e cte d Atyp ical HUS
Classi cat io n Inve st ig at io n

Disord e rs of comp le me nt re g ulation C3 (p lasma/se rum)
Factor H and Factor I (p lasma/se rum)
Factor H autoantib od y
MCP (CD46)
Ge ne mutation analysis in factor H, factor
I, MCP, factor B and C3
ADAMTS13 (vWFcp ) d e cie ncy Plasma vWF p rote ase (ADAMTS13)
Inhe rite d or acq uire d activity ± inhib itor (p lasma)
Cob alamin me tab olism Homocyste ine , me thylmalonic acd
(p lasma and urine ) ± mutation analysis
in MMACHC g e ne
HIV Se rolog y
Pre g nancy HELPP synd rome Pre g nancy te st, live r e nzyme s
Misce llane ous Antinucle ar antib od y, lup us anticoag u-
lant, anti-p hosp holip id antib od ie s
MCP- me mb rane cofactor p rote in.

Ad ap te d with p e rmission from Arice ta G, Be sb as N, Johnson S, Karp man D, Land au D,
Licht C, e t al. Guid e line for the inve stig ation and initial the rap y of d iarrhe a ne g ative
he molytic ure mic synd rome . Pe d iatr Ne p hrol 2009; 24(4):687-696.
~ Plasma exchange (PE) should be initiated within 24 hours of the

DIFFERENTIAL DIAGNO SIS initial presentation along with supportive treatment. Initially,
1.5 times (60 to 75 ml/ kg) the expected plasma volume should
were distinguished clinically, considering TTP to have predominant the initial 5 days followed by ve sessions a week for the next
neurological involvement and HUS to primarily have renal dysfunc- 2 weeks and then three sessions a week for the subsequent
tion. Both share a common pathology of thrombotic microangiopa- 2 weeks.
thy and symptoms can overlap with neurological manifestations ~ Blood counts, electrolytes, and serum creatinine should be moni-
seen in HUS and renal problems seen in TTP. Therefore, TTP and tored daily to determine the impact on degree of hemolysis and
HUS are often considered together. 6,13 renal dysfunction.
~ In patients with low initial C3 levels, daily C3 levels should be
MANAGEMENT measured.
~ PE can be discontinued if an alternative diagnosis is made that is
not expected to respond to PE (such as cobalamin-C disorder),
NO NPHARMACO LO GIC
remission is achieved.
electrolyte balance, management of hypertension, and nutritional ~ Remission is achieved if platelet count is sustained above
support. 150 × 109/ l for 2 weeks and there is no evidence of hemolysis.
A relapse is said to occur if there is recurrence of thrombocyto-
require renal replacement therapy with either peritoneal dialysis or penia and hemolysis after 2 weeks of recovery. Reinstitution of
hemodialysis. PE is recommended if it had been successful initially.
~ If PE cannot be performed and the patient is not volume-
overloaded or hypertensive and in cardiac failure, 10 to 20 mL/ kg
-
of body weight of FFP should be transfused (to replace a de cient
cytopenia or to cases of hemorrhage or in anticipation of an invasive
factor).
procedure.
-
sus guidelines with the aim of establishing a standardized approach MEDICATIO NS
to the initial management of aHUS. 8 SO R -
domized controlled trials, these guidelines are based on combined recently been shown to be an effective treatment in aHUS. 7 There
personal experiences and published case reports. have been reported bene ts of eculizumab in individual cases of
PART 10
AND KIDNEYS
aHUS and its ef cacy has recently being evaluated in controlled +) HUS with a
clinical trials. 14 25 percent mortality rate. 7 It is characterized by frequent relapses
the use of eculizumab in the treatment of pediatric and adult and progression to end-stage renal failure in approximately 50 per-
patients with aHUS. 15 SO R cent of cases. 16,17
transplantation is high and has been reported to occur in up to 30
involved in PE demonstrate the potential for eculizumab to be used to 100 percent of aHUS patients depending on the underlying
early in children in the near future. It is administered as an intrave- complement defect. 7
nous infusion. The most frequently reported adverse effects are
hypertension, upper respiratory infection, diarrhea, headache, PATIENT RESO URCES
anemia, vomiting, urinary tract infection, and leukopenia. www.kidney.niddk.nih.gov/ kudiseases/ pubs/
childkidneydiseases/ hemolytic_uremic_syndrome.
associated HUS, the safety and ef cacy of eculizumab have not been www.ghr.nlm.nih.gov/ condition/
+) HUS. 15 atypical-hemolytic-uremic-syndrome.
infections. 15 - PRO VIDER RESO URCES

tration program, certify that they will counsel and provide educa- http:// emedicine.medscape.com/ article/ 982025.
tional materials to patients about the risks of eculizumab, and agree
to promptly report cases of meningococcal infection. 15 Patients
should be immunized with a polyvalent meningococcal vaccine.
- REFERENCES
ous infections due to S. pneumoniae and H. in uenza type b, and if 1. Gasser C, Gautier E, Steck A, Siebenmann RE, Oechslin R.
not immunized, patients should receive vaccinations for the pre- Hemolytic-uremic syndrome: bilateral necrosis of the renal cor-
vention of these infections. Patients may require antibiotic prophy- tex in acute acquired hemolytic anemia (Article in German). Sch-
laxis as well. weiz Med Wochenschr. 1955;85(38-39):905-909.
SURGERY syndrome and death in persons with Escherichia coli O157:H7
candidates for renal transplantation. There is a 30 to 100 percent 2000–2006. Clin Infect Dis. 2009;49:1480-1485.
risk of recurrence of aHUS after renal transplantation. 7 3. Verweyen HM, Karch H, Brandis M, Zimmerhackl LB. Enterohe-
morrhagic Escherichia coli infections: following transmission
REFERRAL routes. Pediatr Nephrol. 2000; 14:73-83.
-
come of Shiga-toxin -associated hemolytic uremic syndrome
placement of a catheter for peritoneal dialysis. (HUS). Pediatr Nephrol. 2008;23:1749-1760.
5. Taylor CM. Enterohaemorrhagic Escherichia coli and Shigella
PREVENTIO N AND SCREENING dysenteriae type 1-induced haemolytic uraemic syndrome. Pediatr
Nephrol. 2008;23:1425-1431.
advisable to take precautions against EHEC and other foodborne Remuzzi G, et al. A classi cation of hemolytic uremic syndrome
illnesses by washing hands, utensils and food surfaces often, keep- and thrombotic thrombocytopenic purpura and related disorders.
ing raw food separate from read-to-eat food, thoroughly cooking Kidney Int. 2006;70:423-431.
meat, washing fruits and vegetables, avoiding unpasteurized milk,
juice and cider, and avoiding swimming in water potentially con- new therapies on the horizon. Pediatr Nephrol. 2011;26(1):41-57.
taminated with feces. Erratum in: Pediatr Nephrol. 2013;28(1):165.
et al. Guideline for the investigation and initial therapy of diar-

PRO GNO SIS
rhea negative hemolytic uremic syndrome. Pediatr Nephrol. 2009;
6,12 24(4):687-696.
Patients
with a milder course gradually improve with resolution of renal 9. Loirat C, Fremeaux-Bacchi V. Atypical hemolytic uremic syn-
impairment over a few weeks. Approximately 25 percent have drome. Orphanet J Rare Dis. 2011;6:60.
residual defects which range from persistent proteinuria and hyper-
tension to end-stage renal disease. 12 Oligoanuria persisting for lon- Escherichia coli and haemolytic uraemic syndrome. Lancet. 2005;
ger than 4 weeks increases the risk of a poorer prognosis. 16 365:1073-1086.
PART 10
AND KIDNEYS
hemolytic-uremic syndrome. N Engl J Med. 2013; 368(23):

the hemolytic-uremic syndrome after antibiotic treatment of 2169-2181.
Escherichia coli O157:H7 infections. N Engl J Med. 2000;342:
1930–1936.
-
mic syndrome: current molecular mechanisms and future thera- ucm273089.htm, accessed on 2013
pies. Drug Des Devel Ther. 2012; 6:195-208.
Kar NC. A new era in the diagnosis and treatment of atypical
pathogenesis of glomerular thrombotic microangiopathy. Pediatr haemolytic uraemic syndrome. Neth J Med. 2012; 70(3):
Nephrol. 2011;26:523-533. 121-129.
14. Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian 17. Noris M, Remuzzi G. Hemolytic uremic syndrome. J Am Soc
C,et al. Terminal complement inhibitor eculizumab in atypical Nephrol. 2005; 16:1035-1050.
PART 10
AND KIDNEYS
70 PEDIATRIC KIDNEY
STO NES
Karl T. Re w, MD
PATIENT STO RY
A 13-year-old girl presents with pain in the right ank and mid-abdo-
men. Several family members have had kidney stones. Her urinalysis
shows blood but no signs of infection. A pregnancy test is negative.
Abdominal x-ray reveals bilateral stones (Figure 70-1). A CT shows a FIGURE 70-2 CT of the ab d ome n and p e lvis of the same g irl in Fig ure
right ureteral stone and a non-obstructing stone in the left kidney 70-1, showing a rig ht ure te ral stone . (Use d with p e rmission from Julian
(Figures 70-2 and 70-3). She successfully passes and catches the Wan, MD.)
symptomatic stone. Stone analysis shows calcium oxalate. A metabolic
workup shows idiopathic hypercalciuria as the cause of her stones.
EPIDEMIO LO GY
INTRO DUCTIO N
US is increasing. 1 Part of this increase may be due to improvements
A kidney stone is a solid mass that forms when minerals crystallize
in imaging techniques. 2,3 Although pediatric data are incomplete,
and collect in the urinary tract. Kidney stones can cause pain and
children appear to be about 1/ 10 as likely to develop stones as
hematuria, and may lead to complications such as urinary tract
adults.
obstruction and infection.
among adolescents, who are also more likely than younger children
SYNO NYMS to present with symptomatic ureteral stones. 3,4
Kidney stone, nephrolithiasis, renal calculus, renal stone, urinary although prevalence varies by age, type of stone, and geographic
tract stone, ureterolithiasis, urolithiasis. region. 5,6
white children. 4,7
stones in children. Children are at higher risk of recurrent stones

and subsequent renal dysfunction than adults for whom environ-
mental and dietary causes are more common. 4 Obesity and weight
gain increase the risk of stone formation in adults;8 the effects of
pediatric obesity are being studied.
FIGURE 70-1 Plain ab d ominal x-ray showing with two sub tle stone s FIGURE 70-3 CT of the ab d ome n and p e lvis of the same g irl in Fig ure
(arrows), one in the rig ht ure te r and one in the le ft kid ne y of a 13-ye ar- 70-1, showing a le ft kid ne y stone . (Use d with p e rmission from Julian
old g irl. (Use d with p e rmission from Julian Wan, MD.) Wan, MD.)
PART 10
PEDIATRIC KIDNEY STO NES THE GENITO RURINARY SYSTEM 445
AND KIDNEYS
-
mon in children, occurring in about 90 percent of cases. Struvite increased by obesity, 8 diabetes mellitus, metabolic syndrome, and
(magnesium ammonium phosphate) stones occur in about 5 per- by diets high in animal protein, salt, and oxalate-containing foods;
cent of cases and are becoming less common. About 2 percent of these factors are being studied in children.
pediatric stones are cystine stones. Uric acid stones are less com-
mon in children than adults, occurring in less than 1 percent of calcium stones; in fact, dietary calcium can help prevent calcium
cases. Medication stones and other types of stones are rare. 6
ETIO LO GY AND PATHO PHYSIO LO GY urinary drainage, or long-term catheters are at risk for Proteus
urinary tract infections and struvite stones.
-
uble materials, usually from increased excretion of these com- defect in a protein that transports dibasic amino acids in the kid-
pounds or from dehydration. Idiopathic hypercalciuria is the most neys, increasing the concentration of insoluble cystine in the urine.
common abnormality found in adolescents. Low urinary citrate can All homozygotes and some heterozygotes are at risk for cystinuria
increase the risk of calcium stone formation because citrate in the and stones.
urine binds calcium and impedes stone formation in several other
ways. Urine pH can affect stone formation: calcium phosphate and along with acidic urine from chronic diarrhea, diabetes mellitus, or
cystine stones form in more alkaline urine (pH > 7), while uric acid a ketogenic diet.
stones form in acidic urine (pH < 5.5).
mainly Proteus. DIAGNO SIS

amino acid transport. These stones can be pure cystine or cystine CLINICAL FEATURES
mixed with calcium oxalate.
incidentally on imaging done for other reasons, sometimes remain
myeloproliferative disorders, chemotherapy, or Lesch-Nyhan syn- in the kidneys for years without causing symptoms.
drome. Acidic urine due to a ketogenic diet or chronic diarrhea can
increase the risk of uric acid stones. The pain of renal colic in adolescents typically begins suddenly in
the ipsilateral ank or abdomen and progresses in waves, gradually
renal pelvis and extending into the calyces to form staghorn calculi increasing in intensity over the next 20 to 60 minutes. As the stone
(Figure 70-4). moves downward, pain may be felt in the ipsilateral groin, testis,
RISK FACTO RS abdominal pain, or urinary tract infection.
However, a 24-hour urine collection often shows a low urine constant dull ank pain. Stones in the bladder can cause frequency,
volume from inadequate uid intake. urgency, dysuria, or recurrent urinary tract infections.
LABO RATO RY
pathognomonic for cystinuria.
capture and analysis is recommended. SO R Stones can be

collected with a strainer in older children, and by examining
diapers in younger children.
tract stone. 9 This includes testing of urine (ideally with a 24-hour

collection) for pH, volume, calcium, oxalate, and citrate, with
simultaneous serum tests for calcium, uric acid, electrolytes, and
creatinine. When a 24-hour urine cannot be collected, a random
FIGURE 70-4 Plain ab d ominal x-ray of a 15-ye ar-old g irl with cystinuria
and a larg e stag horn calculus in the rig ht kid ne y. (Use d with p e rmission urine should be tested. In patients with elevated serum calcium,
from Julian Wan, MD.) parathyroid hormone (PTH) should be measured.
PART 10
AND KIDNEYS
diarrhea, rectal bleeding, tenesmus (i.e., urgency with a feeling of

incomplete evacuation), passage of mucus, and cramping abdomi-
-
toms with kidney stones are usually limited to nausea and vomiting
from stimulation of the celiac plexus.
dyspeptic symptoms (see Chapter 55, Peptic Ulcer Disease). Upper

endoscopy is the preferred procedure for diagnosing ulcers. Stool
Helicobacter pylori infection.
Helpful indictors of UTI are a urine dipstick positive for nitrates

(positive likelihood ratio [LR+ ] 26.5) and urinary sediment
FIGURE 70-5 Ultrasound o f rig ht sid e d kid ne y stone (arrow) in an

Hematuria can be seen in patients with:
8-ye ar-old g irl. Note the shad owing that occurs b e low the stone .
(Use d with p e rmission from Julian Wan, MD.)
-
somiasis.
IMAGING nephropathy, lupus nephritis or hemolytic uremic syndrome (see

Chapters 67, Nephrotic Syndrome; Chapter 68, Nephritic Syn-
cystine stones. It is recommended for patients with a prior radi- dromes; and Chapter 69, Hemolytic Uremic Syndrome).
opaque stone (Figures 70-1 and 70-4).
-
lucent), to assess hydronephrosis, or to limit exposure to x-rays
(Figure 70-5). Ultrasound also may provide clues to diagnoses MANAGEMENT
outside the urinary system.
Figures 70-2 and 70-3) is the preferred NO NPHARMACO LO GIC
imaging approach for adults with stones and has largely replaced
intravenous urography. However, in children, an adequate assess- most adolescent and adult patients. 11 SO R
ment can often be made using plain x-ray and ultrasound, reducing
their radiation exposure. CT is effective for diagnosing stones in ureteral stones and about half of proximal ureteral stones will pass
children and it may provide clues to diagnoses outside the urinary spontaneously.
system, but the radiation exposure is 2 to 10 times that of a single
plain abdominal x-ray. 10 MEDICATIO NS
α -adrenergic blockers (such as
DIFFERENTIAL DIAGNO SIS tamsulosin) or calcium-channel blockers, increases the chance of
stone passage in adults and has been used successfully in children,
Other causes of ank and lower pelvic/ groin pain: although it is not currently FDA approved. 12 SO R
-
-
cotics if needed. NSAIDs may need to be avoided if planning litho-
pic pregnancy) can often be distinguished on ultrasound. Pelvic
tripsy because of increased risk of perinephric bleeding.
in ammatory disease can also present with pain and is diagnosed
based on clinical examination and culture.
CO MPLEMENTARY AND ALTERNATIVE THERAPY
-
that can be confused with kidney stones. Testicular tumors rarely 11
cause pain. Physical examination can help differentiate these
urine and help prevent calcium stones. Other supplements have
conditions.
been suggested as potentially protective against renal stones, but
- study results are con icting.
tion obstruction, renal subcapsular hematoma, and renal cysts (see
Chapter 65, Hydronephrosis and UPJ Obstruction and Chapter 66, PRO CEDURES
Polycystic Kidneys). Imaging assists in differentiating these from
kidney stones.
therapy can be treated with extracorporeal shockwave lithotripsy
Abdominal pain from renal stones may be similar to pain caused by
other diagnoses: and laser procedures have been increasingly successful, even in
PART 10
PEDIATRIC KIDNEY STO NES THE GENITO RURINARY SYSTEM 447
AND KIDNEYS
smaller children. Large stones may require percutaneous nephroli- if there was incomplete removal of the stone. Cystine stones recur
thotomy or open surgery. one or more times per year in most patients.
REFERRAL kidney disease. The proportion of nephrolithiasis-related end-stage
stones and urosepsis, anuria, or renal failure. Urologic consultation

is recommended for patients with refractory pain and nausea,
SO R FO LLO W-UP
important for all patients with an initial stone. Patients started

on medical therapy should be reevaluated with a 24-hour urine in
dietician to help them adhere to a stone-prevention diet while 3 months. Those with a history of recurrent stones should be seen
maintaining adequate nutrition. at least annually.
other inherited risk factors.

PATIENT EDUCATIO N
PREVENTIO N
(or about 2 to 3 L/ day in adolescents) is recommended for most
patients. In adults this has been shown to reduce stone recurrences by
types of stones. half. Dietary information is available (see the following section,
“Patient Resources”).
stones. A low-calcium diet can increase stone formation and
decrease bone mineral density. PATIENT RESO URCES
-
oxalate stones; food sources include rhubarb, spinach, Swiss chard, house. Kidney Stones in Children http:// kidney.niddk
.nih.gov/ KUDiseases/ pubs/ stoneschildren/ .
nuts and seeds. -
house. Diet for Kidney Stone Prevention http:/ / kidney.
niddk.nih.gov/ kudiseases/ pubs/ kidneystonediet/ .
The Oxalate Content of Food www.ohf.org/ docs/
Oxalate2008.pdf.
and organ meats), and protein supplements such as brewer’s yeast.
Daily allopurinol can help prevent uric acid stones. PRO VIDER RESO URCES
Additional treatments may be warranted based on the type of stone: 2007 Guideline for the Management
- of Ureteral Calculi www.auanet.org/ content/ clinical-
pathic hypercalciuria can be treated with a thiazide diuretic, which practice-guidelines/ clinical-guidelines.cfm?sub=uc.
may reduce recurrence by 50 percent over 3 years. Hypokalemia Guidelines on Urolithiasis,
should be avoided because low potassium can reduce urinary citrate www.uroweb.org/ gls/ pdf/ 18_
and increase stone formation. Urolithiasis.pdf.
citrate. Potassium citrate is not FDA approved for use in children

REFERENCES
divided into 2 to 3 daily doses. 13 1. VanDervoort K, Wiesen J, Frank R, et al. Urolithiasis in pediatric
patients: a single center study of incidence, clinical presentation
pH ≥7.5, and a low-sodium diet are recommended. D-Penicillamine and outcome. J Urology. 2007;177:2300-2305.
binds with cystine, helping to dissolve and prevent cystine stones, 2. Tanaka ST, Pope JC IV. Pediatric stone disease. Curr Uro Rep.
but it is not always well tolerated. 2009;10:138-143.
PRO GNO SIS in incidence of kidney stones among children: a 25-year population
based study. J Urology. 2012;188:247-252.
-
children. Kidney Int. 2011;80:1278-1291.
PART 10
AND KIDNEYS
-
atric urolithiasis. Pediatr Surg Int. 2012;28:659-665. computed tomography scans mandatory for children with sus-
pected urinary calculi? Urology. 2011;78:662-667.
composition in the United States. J Urology. 2012:187;2182-2187. 11. Frasetto L, Kohlstadt I. Treatment and prevention of kidney
7. Sas DJ, HulseyTC, Shatat IF, Orak JK. Increasing incidence of stones: an update. Am Fam Physician. 2011;84(11):1234-1242.
kidney stones in children evaluated in the emergency depart- 12. Hollingsworth JM, Rogers MA, Kaufman SR, et al. Medical
ment. J Pediatr. 2010;157(1):132-136. therapy to facilitate urinary stone passage: a metaanalysis. Lancet.
2006;368:1171-1179.
the risk of kidney stones. JAMA. 2005;293(4):455-462. 13. Tekin A, Tekgul S, Atsu N, et al. Oral potassium citrate treatment
N Engl J Med. for idiopathic hypocitruria in children with calcium urolithiasis.
2010:363:954-963. J Urology. 2002;168(6):2572–2574.
PART 10
RENO VASCULAR HYPERTENSIO N THE GENITO RURINARY SYSTEM 449
AND KIDNEYS
71 RENO VASCULAR SYNO NYMS

HYPERTENSIO N Renal artery stenosis; renovascular disease.
Halima S. Janjua, MD
Rae d Bou Matar, MD
Charle s Y. Kwon, MD EPIDEMIO LO GY
hypertension in children. 1,2

PATIENT STO RY
A 14-year-old girl presents to your of ce for a routine physical exam- ETIO LO GY AND PATHO PHYSIO LO GY
ination. She has history of chronic headaches and complains about
abdominal pain after eating. Her vital signs reveal a blood pressure of
163/ 100 mm Hg. Repeat manual blood pressure is 152/ 98 mm Hg. mediated mechanisms, sodium-related volume expansion, and
You obtain laboratory studies, which reveal a normal serum creati- increased sympathetic nervous system activity.
nine, mild hypokalemia, and elevated plasma renin activity and aldo-
sterone level. Her renal ultrasound with Doppler is suspicious for ~ Fibromuscular dysplasia.
right renal artery stenosis. You start hypertension management with a ~ Vasculitis (e.g., Takayasu’s disease, Polyarteritis nodosa, or
calcium-channel blocker and refer her to a pediatric nephrologist, Kawasaki disease).
who obtains a computed tomography angiography (Figure 71-1) ~ Syndromes (e.g., Neuro bromatosis type 1, Tuberous sclerosis,
that reveals severe narrowing of right renal artery. Her blood pres- Williams syndrome, or Marfan syndrome).
sure remains sub-optimally controlled with calcium-channel blockers. ~ Umbilical artery catheterization.
An angiotensin II receptor blocker is added to her hypertension ~ Mid-aortic syndrome.
management. ~ Renal artery hypoplasia.
~ Extrinsic compression (e.g., Neuroblastoma, Wilms tumor).

Renovascular hypertension is hypertension that results from lesions CLINICAL FEATURES
that impair blood ow to one or both kidneys. It is an important
cause of reversible hypertension in children. variable.
severe hypertension or they can present with symptoms secondary

to end-organ damage from severe hypertension.
be heard on physical exam.
children with renovascular hypertension.

-
tion of rennin-angiotensin-aldosterone system.
IMAGING
viewed by color and pulsed-wave Doppler. Ultrasonography allows

for measurement of peak systolic velocities in the intrarenal
branches, although this study may not be sensitive enough to detect
distal sites of stenosis. 3
FIGURE 71-1 Stenosis of the right renal artery (arrow) on computed
tomography angiography. (Used with permission from Halima Janjua, MD.) dimensional images. It has better spatial resolution compared to
PART 10
AND KIDNEYS
FIGURE 71-3 Mag ne tic Re sonance Ang iog rap hy o f the p atie nt in Fig -
ure 71-1 showing d iffuse , lo ng (2.4 cm) unilate ral narrowing of the p rox-
imal/mid se g me nts o f the rig ht re nal arte ry (arrow) and mild -mo d e rate
narrowing of sup e rior me se nte ric arte ry ab ove it. (Use d with p e rmission
from Halima Janjua, MD.)
FIGURE 71-2 Rig ht re nal arte ry ste nosis (arro w) on co lor-e nhance d
co mp ute d tomog rap hy ang iog rap hy in the same p atie nt as in
Fig ure 71-1. (Use d with p e rmissio n fro m Halima Janjua, MD.)
-
magnetic resonance angiography (MRA). This study can be con- Hemolytic Uremic Syndrome).
ducted quickly and without general anesthesia though there is
exposure to ionizing radiation (Figures 71-1 and 71-2). 4
to ionizing radiation though gadolinium-based contrast is used that

can lead to nephrogenic systemic brosis in children with glomeru-
lar ltration rates (GFR) of less than 30 mL/ min/ 1.73 m2. MRA of all peripheral pulses.
also requires sedation or general anesthesia (Figure 71-3). -
cardia, and systemic symptoms.
standard” for diagnosing renovascular abnormalities. DSA can pro-
vide excellent images of the branches of renal arteries as well as imaging studies.
of unilateral stenosis can be con rmed by sampling blood for renin

from both renal veins. Another advantage of DSA is the endovascu-
lar treatment that can be performed by the interventional radiolo-
MANAGEMENT
gist at the time of DSA. DSA requires higher radiation dose than
blood pressure, which must be lowered gradually.

MEDICATIO NS
Other than renovascular hypertension, differential diagnosis for chil-
II receptor blockers (ARBs) should be used with caution since they
can reduce an already diminished glomerular ltration pressure.
- The resulting drop in glomerular ltration pressure may cause
tions is apparent. severe acute kidney injury in some patients with bilateral severe
stenosis, high-grade stenosis in one kidney or advanced chronic
kidney disease. 6 SO R
PART 10
RENO VASCULAR HYPERTENSIO N THE GENITO RURINARY SYSTEM 451
AND KIDNEYS
initial antihypertensive options. However, it not unusual for

these children to require multiple antihypertensive medications
ARBs. SO R
ENDO VASCULAR INTERVENTIO NS
patients who either cannot tolerate antihypertensive medications or

have refractory hypertension.
segmental transarterial ethanol ablation, or surgery. In general,

the choice of treatment depends on the age and size of the child,
technical feasibility, extent of the disease process, and underlying
cause.
-
A B monly used rst line intervention. It has shown clinically signi cant
improvement in about 50 percent of the cases and is associated with
FIGURE 71-4 Se ve re mid aortic synd rome . Note the narrowing of the
ab d ominal aorta b e fore ang iop lasty (A) that imp ro ve d afte r ang io- a high rate of restenosis (Figures 71-4 and Figure 71-5). SOR
p lasty (B). (Use d with p e rmission fro m Sp ring e r Scie nce +Busine ss -
Me d ia, with kind p e rmission: Clinical Hyp e rte nsion and Vascular
Dise ase s: Pe d iatric Hyp e rte nsion, e d ite d b y: J. T. Flynn e t al. DO I cult to perform, segmental ethanol ablation may be a reasonable
10.1007/978-1-60327-824-9_20. Sp ring e r Scie nce + Busine ss Me d ia, alternative. 9,10 SO R
LLC 2011. Chap te r 20. Fig . 2.)
A B
FIGURE 71-5 (A) Typ ical b e ad e d ap p earance of a renal arte ry with se ve re ste nosis. The arrows point to areas of ste nosis b e twe e n the be ad s. (B) After
tre atme nt with ang iop lasty. (Use d with p e rmission fro m Sp ring e r Scie nce +Busine ss Me d ia, Clinical Hyp e rte nsion and Vascular Dise ase s: Pe d iatric
Hyp e rte nsion, e d ite d b y J. T. Flynn e t al. DO I 10.1007/978-1-60327-824-9_20. Sp ring e r Scie nce + Busine ss Me d ia, LLC 2011. Chap te r 20. Fig . 3.)
PART 10
AND KIDNEYS
SURGERY PRO VIDER RESO URCES

Clinical Hypertension and Vascular Diseases. Pediatric
surgery with autologous or synthetic grafts is reserved for compli- Hypertension, edited by J. T. Flynn et al. DOI 10.
cated cases or those with failed angioplasty or ethanol ablation. 1007/ 978-1-60327-824-9_20.
These surgical procedures have shown to be of clinical bene t in www.emedicine.medscape.com/ article/ 245140.
about 97 percent of the cases. 11 SO R
REFERRAL REFERENCES
team approach that may include pediatric nephrologist, interven- children with severe and persistent hypertension. Arch Dis Child.
tional radiologist, and vascular surgeon.
SCREENING pediatric center experience with 1025 children with hyperten-

sion. Acta Paediatrica
3. Marks SD, Tullus K. Update on imaging for suspected renovascu-
with each health care visit, as recommended by American Academy lar hypertension in children and adolescents. Curr Hypertens Rep.
of Pediatrics. 12
- Pediatr Radiol.
sure > 5 mmHg above the 99th percentile should be evaluated for
secondary causes of hypertension. 5. Tan KT, van Beek EJ, Brown PW, et al. Magnetic resonance angi-
Clin Radiol
PRO GNO SIS
6. Wong H, Hadi M, KhouryT, et al. Management of severe hyper-
tension in a child with tuberous sclerosis-related major vascular
abnormalities. J Hypertens
7. Shroff R, Roebuck DJ, Gordon I, et al. Angioplasty for renovascu-
FO LLO W-UP Pediatrics.
-
patients with history of renovascular hypertension due to a signi - loon angioplasty of renovascular hypertension in pediatric cases.
cant risk of restenosis or formation of new vascular lesions. Acta Chir Belg
PATIENT RESO URCES 9. Klimberg IW, Locke DR, Hawkins IF, Jr., et al. Absolute ethanol
renal angioinfarction for control of hypertension. Urology.
conditions/ heart/ Pages/ High-Blood-Pressure-
in-Children.aspx. -
cular hypertension in children. Techniques in Vascular & Interven-
www.heart.org/ HEARTORG/ Conditions/ High tional Radiology
BloodPressure/ UnderstandYourRiskforHigh
BloodPressure/ High-Blood-Pressure-in-Children_ -
UCM_301868_Article.jsp.
97 children. Journal of Vascular Surgery
www.vasculardisease.org/ renovascular-
hypertension-ras. 12. American Academy of Pediatrics, Bright Futures, 2013.
PART 11
NEO NATAL
CO NJUNCTIVITIS
Dawood Yuse f, MD
PART 11
458 CHAPTER 73
NEWBO RN
73 ABDO MINAL WALL family had met with the pediatric surgeon and neonatal intensive care
team prior to the delivery. The infant underwent successful surgical
DEFECTS repair for the defect. After a 5-week hospital course, the infant was
discharged home with good bowel function.
Jose Lozad a, MD
Anthony Stallion, MD
INTRO DUCTIO N
The normal abdominal wall is formed by infolding of the cranial,
caudal, and two lateral embryonic folds. These folds form in the 4th Gastroschisis is a full-thickness defect in the abdominal wall, typically
week of development as a combination of the parietal layer of lateral to the right of umbilical cord (Figure 73-1), where a variable
plate mesoderm and overlying ectoderm. As they move ventrally to amount of intestine and/ or other organs may be herniated through
meet in the midline, rates of cell proliferation and fusion in the folds the abdominal wall without a membrane or covering. 2,3
differ. This fusion process between the folds is complex, involving
cell-to-cell adhesion, cell migration, and cell reorganization. Simul-
taneously, as the abdominal wall is forming, the rapid growth of the EPIDEMIO LO GY
intestinal tract leads to its herniation through the umbilical ring into
the yolk sac from the 6th to the 10th week of gestation. By the 10th
to 12th week of gestation, the intestine returns to the abdominal and is approaching 3 to 4 per 10,000 births in endemic areas. 4
cavity in a well-coordinated pattern. This results in normal intestinal
rotation and xation, followed by complete formation of the abdom- between the occurrence of gastroschisis and young maternal age.
inal wall. 1 However, a clear cause of gastroschisis has yet to be determined. 4,5
Abnormal formation of the abdominal wall can result in omphalo-
cele and possibly gastroschisis, which are discussed in succession.

GASTRO SCHISIS
PATIENT STO RY abdominal wall defect through which abdominal organs may
eviscerate early in gestation. 6 These theories include:
A term newborn infant is found to have protrusion of the abdominal ~ Localized failure of mesoderm formation.
wall, involving the viscera (Figure 73-1). A prenatal diagnosis of gas- ~
troschisis had been made by ultrasound and the mother was referred ~ Abnormal involution of the right umbilical vein.
to a high-risk obstetrical service for management. The infant was born ~
via vaginal delivery and upon delivery was taken to the neonatal body wall ischemia.
intensive care unit for immediate resuscitation and management. The ~ Abnormal body wall folding.
congenital abnormalities. It is unclear if this represents evidence

that gastroschisis is not a primary developmental defect.
RISK FACTO RS
DIAGNO SIS
PRENATAL DIAGNO SIS

-
sound. The speci city is greater than 95 percent, with sensitivity
being more variable due to operator variability. 7
FIGURE 73-1 Ne wb orn infant with g astroschisis. Note the e visce ration
occurring to the rig ht of the umb ilical cord. In ad d ition to small intestine ,
his le ft te stis (arrow) can also b e ap p reciated as p art of the exstrophy. ventral wall defects found that there was an increase in serum
(Use d with p ermission from Anthony Stallion, MD.) alpha-fetoprotein levels. 8
PART 11
ABDO MINAL WALL DEFECTS 459
NEWBO RN
CLINICAL FEATURES
stenosis or atresia likely stemming from vascular insuf ciency to the

bowel; this insuf ciency could occur early at the time of gastroschi-
sis development or later from volvulus or compression of the mes-
enteric vascular pedicle against a narrowing abdominal wall ring.
are uncommon. 9,10
MANAGEMENT
FIGURE 73-2 Intraop erative placed silo on same patient as Fig ure 73-1.
PRENATAL MANAGEMENT (Use d with p e rmission from Anthony Stallion, MD.)
outside the abdomen while they are slowly reduced into the
premature delivery, and fetal death. abdominal cavity with daily gentle pressure.
obstetrics care connected to a specialized pediatric center to optimize the exposed viscera by the seventh to tenth day of life.
the post-partum outcome.
fashioned” or “pre-manufactured silo.” A pre-fashioned silo is a
pediatric surgeon. tubularized synthetic material that comes formed from the manu-
allows the family to be counseled about the condition, its treatment bedside.
and prognosis.
or with a synthetic patch to avoid excessive intra-abdominal pressure.
PO ST-PARTUM MANAGEMENT
REFERRAL
if necessary.
center and pediatric surgery is imperative.
involves placing the exposed viscera and entire lower half of the
dried baby in a transparent plastic bag, commonly called a bowel PREVENTIO N AND SCREENING
bag. This allows the preservation of body heat and keeps the bowel
moist. Care must be taken to support the bowel with moist gauze
so that it does not fall to either side of the body and cause venous
attain primary closure. PRO GNO SIS
allow for intravenous access.

to the condition of the bowel, size of the defect, and ability to
reduce the viscera in a timely fashion.
of the initial management.
the main cause of death being bowel loss and intestinal necrosis. 11
SURGERY -
matosis intestinalis (gas in the bowel wall) on radiographic imaging.
bowel ischemia, a “silo” may be placed in the operating room This may occur in the postoperative period when feedings are being
(Figure 73-2). A “silo” is a tubular or inverted funnel-like structure advanced. 12
with synthetic material to give temporary cover to the abdominal
viscera and allow for serial reduction of the organs into the delayed return of bowel function and advancing to full enteral
abdominal cavity. The “silo” protects the intestine and other viscera feedings, which is usually a combination of oral and tube feedings.
PART 11
460 CHAPTER 73
NEWBO RN
Many patients have some degree of dif culty nippling since they do -
not feed at birth and have a prolonged period without oral intake. synthetic patch to prevent excessive intra-abdominal pressure with
closure. The skin was able to be closed primarily. The patient’s post-
month of surgical intervention, 36 percent between one to two operative course was uneventful except for a prolonged ileus. He was
months, and 25 percent greater than two months. 13 begun on enteral feeds on postoperative day # 20. The patient
reached full feeds on postoperative day # 34 and was discharged home
on all oral feedings on postoperative day # 40.
occasional patients with long-term intolerance of feedings, mainly
due to dysmotility. 14 There is also a reported 5 to 10 percent long-
term risk of adhesive obstructions. 15
INTRO DUCTIO N
PATIENT RESO URCES
An omphalocele is a midline abdominal wall defect of variable size in
www.cdc.gov/ ncbddd/ birthdefects/ Gastroschisis
which the herniated viscera is covered by a membrane consisting of
.html.
peritoneum on the inner surface, amnion on the outer surface, and
www.nlm.nih.gov/ medlineplus/ ency/ article/ 000992 The umbilical vessels insert
.htm. directly into the membrane and not on the abdominal wall. This is a
true midline developmental defect. There is failure of complete clo-
PRO VIDER RESO URCES sure of the two cranio-caudal and two lateral folds not fully meeting
www.ncbi.nlm.nih.gov/ pubmed/ 19635303. in the midline. The defect may be centered in the upper, middle, or
lower abdomen. The herniated viscera within the omphalocele may
include any abdominal organ and is largely dependent on the defect
size and location.
O MPHALO CELE
A diagnosis of omphalocele was made on fetal ultrasound in an infant

who was delivered by Cesarean section at 37 weeks of gestation due
to onset of labor. The newborn infant was noted to have a large mid-
line abdominal wall defect with herniated intestines covered by a EPIDEMIO LO GY
membrane. The umbilical vessels inserted directly into the membrane
(Figure 73-3). The infant received immediate resuscitation including
nasogastric compression and respiratory support. The infant’s work- 10,000 births.
up included a chest x-ray, cardiac echocardiogram, and renal ultra-
sound to rule out associated congenital anomalies. The results of all omphalocele. 16
these studies were normal. The patient was taken electively 24 hours
the umbilical cord in the 6th to 10th weeks does not return to the
abdominal cavity.
but is thought to be associated with defects in body wall folding.
associated congenital anomalies.
epigastric omphalocele. This abnormality may be associated with

additional cranial fold abnormalities, particularly midline develop-
mental defects, including anterior diaphragmatic hernias, sternal
clefts, pericardial defects, and cardiac defects (Pentalogy of
Cantrell).
FIGURE 73-3 Ne wb orn infant with an omp haloce le . Note that the
umb ilical ve sse ls inse rt d ire ctly into the me mb rane . (Use d with may be associated with bladder or cloacal exstrophy (Figure 73-4)
p e rmission from Anthony Stallion, MD.) or other anorectal malformations.
PART 11
ABDO MINAL WALL DEFECTS 461
NEWBO RN
congenital anomalies.
IMAGING
defects is recommended.
echocardiogram to con rm prenatal ndings and rule out missed

anomalies.
MANAGEMENT
PRENATAL MANAGEMENT
FIGURE 73-4 O mp halo ce le with p re d ominate ly caud al fold d e cit
and an associate d cloacal e xstrop hy. (Use d with p e rmission from
Anthony Stallion, MD.) should include:
~
DIAGNO SIS ~ Chromosome determination.
PRENATAL DIAGNO SIS

is recommended for infants with a large omphalocele to prevent sac
rupture or dystocia during labor.
is the gold-standard for prenatal diagnosis with similar speci city
and sensitivity.
NEWBO RN RESUSCITATIO N
the prenatal care that a referral for high level ultrasound is needed.
CLINICAL FEATURES
SURGERY
anomaly:17
~ Thirty percent of cases have associated chromosomal anomalies.
closure.
Trisomy 13, Patau syndrome.
I
Trisomy 14.
I
done before any operative intervention. The sac should be sup-

Trisomy 15.
I
I
ported or suspended to prevent venous congestion of the viscera,
edema, or ischemia. This will aid in later attempts at reduction.
I Trisomy 21, Down syndrome.
~ Thirty to fty percent have associated cardiac anomalies.
~ Syndromic anomalies may occur. closed primarily. Any membrane adherent to the liver may be left
~ - in place.
cele have this syndrome). This syndrome is an overgrowth
syndrome that may present with macrosomia, macroglossia, of the external membrane, followed by the placement of a “silo”
visceromegaly, and renal abnormalities along with the with serial reduction of the abdominal viscera over 7 to 10 days.
omphalocele.
~ Pentalogy of Cantrell (omphalocele, anterior diaphragmatic her- resulting loss of abdominal domain and reduction may not be pos-
nias, sternal clefts, pericardial defects, and cardiac defects). sible. In this instance, the membrane may be treated with a topical
agent such as silver sulfadiazine to promote desiccation, contraction
~
and epithelialization of the membrane. The visceral contents may
~
be slowly reduced with loose elastic bandages over time with
~ Loss of pregnancy. delayed closure up to 2 years after initial treatment. 18
PART 11
462 CHAPTER 73
NEWBO RN
expanders and eventual component separation to assist in eventual survival of gastroschisis. Prenat Diagn. 2008;28(13):1232-1237.
closure of the giant defects. -
sis: review of hypotheses, a novel hypothesis, and implications for
REFERRAL research. Am J Med Genet A. 2007;143(7):639-652.
- -
ric center with pediatric surgery is imperative. vival of gastroschisis. Prenat Diagn. 2008;28(13):1232-1237.

levels in pregnancies with ventral wall defects. Obstet Gynecol.
1994;84(5):852-855.
prenatal diagnosis. -
Surg
Clin N Am. 2012;92:713-727.
-
PRO GNO SIS chisis with other congenital anomalies: how important is it? Prenat
Diagn. 2011;31(4):347-350.
largely on the presence of other congenital anomalies, especially

for risk categorization. J Pediatr Surg. 2001;36(1):51-55.
cardiac anomalies, and other comorbidities.
PATIENT RESO URCES of necrotizing enterocolitis following repair of gastroschisis: a

surprisingly high incidence. J Pediatr Surg. 1988;23(10):
www.cdc.gov/ ncbddd/ birthdefects/ omphalocele.html.
945-949.
www.ncbi.nlm.nih.gov/ pubmedhealth/ PMH0001989/ .
with gastroschisis in U.S. children’s hospitals. Am J Perinatol.
PRO VIDER RESO URCES 2010;27(1):97-101.
http://emedicine.medscape.com/ article/ 975583. Arch Dis
http://omphalocele.net/ wordpress/ wp-content/ Child. 1997;77(2):158-160.
uploads/ 2010/ 03/ sdarticle.pdf. -
bidity of adhesions after treatment of neonates with gastroschisis
and omphalocele: a 30-year review. J Pediatr Surg. 2008;43(3):
REFERENCES
479-483.
Semin Pediatr Surg. 2010;19(3):209-214.

and omphalocele in humans: a review of the literature. Pediatr
2. Suver D, Lee SL, Shekherdimian S, et al. Left-sided gastroschisis: Surg Int. 2010;26(12):1135-1148.
higher incidence of extraintestinal congenital anomalies. Am J
Surg. 2008;195(5):663-666.
and associated malformations. Am J Med Genet A. 2008;146A(10):
1280-1285.
cohort study to describe contemporary surgical strategies and
18. Lee SL, Beyer TD, Kim SS, et al. Initial nonoperative management
outcomes. J Pediatr Surg. 2010;45(9):1808-1816.
and delayed closure for treatment of giant omphaloceles. J Pediatr
- Surg. 2006;41(11):1846-1849.
tional epidemiology and public health perspectives. Am J Med
Genet C Semin Med Genet. 2008;148C(3):162-179.
PART 12
ADO LESCENT
PRO BLEMS
St re ng t h o f
(SO R) De nit io n

PART 12
464 CHAPTER 74
ADO LESCENT PRO BLEMS
74 O VERVIEW O F VAGINITIS
E.J. Maye aux, Jr., MD
PATIENT STO RY
An 18-year-old female presented to her physician with vulvar and

vaginal itching associated with a vaginal discharge. On examination,
the patient is noted to have redness and excoriations on her vulva
(Figure 74-1). She also had a thick white discharge was seen covering
cervix and vaginal sidewallson speculum exam. The pH of the dis-
charge was 4.2, and < 10 percent of the epithelial cells on her wet
prep were clue cells (Figure 74-2), but yeast and hyphae were
noted. She was diagnosed with candida vulvovaginitis and was treated
with oral uconazole.
INTRO DUCTIO N FIGURE 74-2 Clue ce lls on a we t mount of vag inal d ischarg e in saline
und e r hig h-p owe r lig ht microscop y. Note the p re se nce of vag inal
Vaginal discharge is a frequent presenting complaint in primary care. e p ithe lial ce lls, smalle r white b lood ce lls (p olymorp honucle ocyte s), and
b acte ria. The b acte ria are the coccob acilli of Gard ne re lla vag inalis
The three most common causes in adolescents and adults are bacterial cove ring the ce ll me mb rane s of the two vag inal e p ithe lial ce lls ne ar the
vaginosis, candidiasis, and trichomoniasis. Providers must refrain lower e nd of the e ld . The se are clue ce lls se e n in p atie nts with b acte rial
from “diagnosing” a vaginitis based solely on the color and consistency vag inosis. (Use d with p e rmission from Richard P. Usatine , MD.)
of the discharge, as this may lead to misdiagnosis and may miss con-
comitant infections. 1
Vulvovaginal complaints in prepubertal children may be result
from infection, congenital abnormalities, trauma, or dermatologic
conditions. Vaginitis is the most commont gynecologic problem
in prepubertal girls, often presenting with symptoms including
vaginal discharge, erythema, soreness, pruritus, dysuria, or
bleeding. 2
Adolescence is a developmental period with rapid changes in physi-
cal characteristics, sexual development, emotional development, and
sexual activity. These changes may result in potential increased risk
for acquiring sexually transmitted diseases.
EPIDEMIO LO GY
The reported rates of chlamydia and gonorrhea are highest among

females ages 15 to 19 years. Adolescents are at greater risk for sexu-
ally transmitted diseases (STDs) because they frequently have unpro-
tected intercourse, are biologically more susceptible to infection, are
often engaged in partnerships of limited duration, and face multiple
obstacles to utilization of health care. 1
Cross-sectional data from the 2003 to 2004 US National Health
and Nutrition Examination Survey (NHANES) shows 24 percent of
female adolescents (aged 14 to 19 years) had laboratory evidence
of infection with human papillomavirus (HPV, 18%), Chlamydia
trachomatis (4%), Trichomonas vaginalis (3%), herpes simplex
FIGURE 74-1 Cand id a vulvovag initis in an 18-ye ar-old fe male who virus type 2 (HSV-2, 2%), or Neisseria gonorrhoeae. Among girls
comp laine d of se ve re vag inal and vulvar itching . He r vulva d e mon- who reported ever having had sex, 40 percent had laboratory evi-
strate d re d ne ss with e xcoriations. Note the sate llite le sions ne ar the
b ord e rs of the in ame d are as. She was d iag nose d with cand id a vulvo- dence of one of the four STDs, most commonly HPV (30%) and
vag initis. (Use d with p e rmission from E.J. Maye aux, Jr., MD.) chlamydia (7%). 3
PART 12
O VERVIEW O F VAGINITIS 465
-
lescents vary. Physiologic leukorrhea refers to generally nonmalodor-
ous, mucousy, white or yellowish vaginal discharge in the absence of
a pathologic cause. It is not accompanied by signs and symptoms,
such as pain, pruritus, burning, erythema, or tissue friability. How-
ever, slight malodor and irritative symptoms can be normal for some
women at certain times. 4 Physiologic leukorrhea is usually a result
of estrogen-induced changes in cervicovaginal secretions.
-
vaginitis in prepubertal girls. 5 Potential factors that increase their
risk of vulvovaginitis in children include poor hygiene, lack of labial
development, unestrogenized thin mucosa, more alkaline vaginal
vulvovaginitis. Toilet paper is the most common foreign body

found in the vaginas of children but small toys, hair bands, beads,
and paper clips are also common. 6
-
ing STDs does not rule out abuse. 7
panty liners, spermicides, povidone-iodine, soaps and perfumes,

and some topical drugs) and allergens (e.g., latex condoms, topical FIGURE 74-3 Colp oscop ic vie w of the ce rvix in a p atie nt infe cte d with
antifungal agents, and chemical preservatives) that produce hyper- trichomonas vag inalis. Note the frothy d ischarg e with visib le b ub b le s
and the ce rvical e rythe ma. (Use d with p e rmission from Se attle STD/HIV
sensitivity reactions. Pre ve ntion Training Ce nte r, Unive rsity of Washing ton.)
douched recently, because this can lower the yield of diagnostic

tests and increase the risk of pelvic in ammatory disease. 8 Patients -
who have been told not to douche will sometimes start wiping the sensitivity, contact dermatitis, trauma, postpuerperal atrophic
vagina with soapy washcloths, which also irritates the vagina and
cervix and may cause a discharge. Douching is associated with syndrome, and pemphigus syndromes.
increases in bacterial vaginosis and acquisition of sexually transmit-
ted infections when exposed. However, recent studies indicate
that douching with plain water once a week or less did not disturb DIAGNO SIS
normal ora. 9,10
- CLINICAL FEATURES
rial vaginosis (40% to 50% of cases) (Figure 74-2), vulvovaginal
candidiasis (20% to 25%) (Figure 74-1), and trichomonas (15% (Figure 74-1). Speculum examination is done to determine the
to 20%) (Figure 74-3). 11 Less common causes include atrophic amount and character of the discharge (Figure 74-3). A chlamydia
vaginitis, cytolytic or desquamative in ammatory vaginitis, strepto- and gonorrhea test should always be done in sexually active females
coccal vaginitis, ulcerative vaginitis, and idiopathic vulvovaginal with a vaginal discharge. Look closely at the cervix for discharge and
ulceration associated with HIV infection. signs of infection, dysplasia, or cancer (Figures 74-3 and 74-4).
Streptococcus pyogenes
in prepubertal girls occuring in about 20 percent of girls with adnexal tenderness. Table 74-1 shows diagnostic values for exami-
vulvovaginitis. 7 nation of vaginitis.
(see Chapter 179, Intestinal Worms and Parasites). Children with pH can be checked by applying pH paper to the vaginal sidewall.
recurrent episodes of vulvar and/ or perianal itching, especially Do not place the pH paper in contact with the cervical mucus. A
when most symptomatic at night, should be examined for pin- pH above 4.5 is seen with menopausal patients, trichomonas infec-
worms and possibly treated empirically. 7 tion, or bacterial vaginosis.
Mycoplasma genitalium infections are
increasingly recognized as causes of sexually transmitted discharge the vaginal sidewall and placing the sample into normal saline. A
in adolescents and young adults. 12 drop of the suspension is then placed on a slide and examined for
PART 12
466 CHAPTER 74
TABLE 74-1 Diag nostic Value s for Vag inal Infe ctions
Diag no st ic Tricho mo nas

Crit e ria No rmal Bact e rial Vag ino sis Vag init is Cand id a Vulvo vag init is
Vag inal p H 3.8 to 4.2 > 4.5 4.5 < 4.5 (usually)
Discharg e White , thin, Thin, white , g ray Ye llow, g re e n, or White , curd y, “cottag e
occule nt g ray, frothy che e se ”
Amine od or Ab se nt Fishy Fishy Ab se nt
“whiff” te st
Microscop ic Lactob acilli, Clue ce lls, ad he re nt Trichomonad s, white Bud d ing ye ast, hyp hae ,
e p ithe lial ce lls cocci, no white b lood ce lls > 10/hp f Pse ud ohyp hae
b lood ce lls
Use d with p e rmission from E.J. Maye aux, Jr., MD.
-
nads, candidal hyphae, or clue cells (Figure 74-2). amine odor is detected during the exam and it is then not necessary
in 5 to 15 minutes (faster if the slide is warmed brie y) and allows

- Neis-
ate examination of the smear. seria gonorrhoeae, Chlamydia, and Chlamydia trachomatis that can be
performed on genital specimens or urine. Urine screening for gon-
-
13
pathogens that cause vaginal discharge. These have the advantages

of much higher sensitivity and are not affected by delays in micro-
scopic assessment. They also do not require providers maintain
classic microscopic tests. 1
MANAGEMENT
and eliminating the offending agents. However, irritants and aller-
adhere well to the vaginal epithelium. Ingestion of live-culture,
of candidal vulvovaginitis or bacterial vaginosis. 14
~ Avoid leotards and sleeper pajamas. Nightgowns allow air to

circulate.
~ Use cotton underpants.
~ Double-rinse underwear after washing to avoid residual irritants.
Do not use fabric softeners for underwear and swimsuits.
FIGURE 74-4 Sp e culum e xam showing mucop urule nt d ischarg e
with a friab le ap p e aring ce rvix in a p atie nt with chlamyd ia ce rvicitis.
~ Avoid tights, leotards, and leggings for daytime use. Skirts and
PART 12
O VERVIEW O F VAGINITIS 467
~ Daily warm bathing for 10 to 15 minutes. Use soap to wash REFERENCES

regions other than the genitals just before exiting tub. Rinse the 1. Centers for Disease Control and Prevention. Guidelines for Treat-
genital area well and gently pat dry. ment of Sexually Transmitted Diseases
~ Do not use bubble baths or perfumed soaps. treatment/ 2010/ STD-Treatment-2010-RR5912.pdf, accessed
~ If the vulvar area is irritated, cool compresses may relieve the December 24, 2011.
discomfort.
~ Wet wipes can be used instead of toilet paper for wiping.
vulvovaginitis in prepubertal girls? BMJ.
Emollients may help protect skin.
~ Review hygiene with the child. Emphasize wiping front-to-back -
after bowel movements. ally transmitted infections among female adolescents aged 14 to
~ Avoid letting children sit in wet swimsuits for long periods of
time after swimming.
- normal?A review of the literature. MedGenMed
-
logical conditions. Arch Dis Child. Educ Pract Ed
MEDICATIO NS
- J Paediatr Child Health
cal clindamycin) may hasten the resolution of a purulent vaginal
discharge that does not respond to hygiene measures and for which girls. Arch Dis Child.
other diagnoses have been excluded.
Am J Public Health.
1207-1211.
infections.
uid. The introitus may be treated with a topical anesthetic agent a randomized controlled trial. J Low Genit Tract Dis.
such as Xylocaine jelly if necessary. Examination under sedation 128-133.
and/ or anesthesia may be necessary for extraction of larger foreign
bodies and those that cannot be removed with simple irrigation. 6
risk of bacterial vaginosis in African-American women. Obstet
Gynecol.
PATIENT RESO URCES
11. Sobel JD. Vaginitis. N Engl J Med.
Sexually Transmitted
Diseases page—www.cdc.gov/ std/ .
genitalium among adolescent women and their partners. J Adolesc
www.plannedparenthood.org/ Health
cameron-willacy/ images/ South-Texas/ What_Every_
Woman_Needs_to_Know_English.pdf.
urine screening for Neisseria gonorrheae and Chlamydia trachomatis
Vaginitis— in adolescents at an urban emergency department. Sex Transm Dis.
www.idph.state.il.us/ public/ hb/ hbvaginitis.htm.

2010 Guidelines for
controlled trial. BMJ.
Treatment of Sexually Transmitted Diseases—www.cdc.gov/ std/
treatment/ 2010/ STD-Treatment-2010-RR5912.pdf.
Self-Study STD
Module–Vaginitis—http:// www2a.cdc.gov/ stdtraining/
self-study/ vaginitis/ default.htm
http:// www2a.cdc.gov/ stdtraining/ ready-to-use/

vaginitis.htm
www.emedicine.medscape.com/
article/ 257141-overview.
www.aafp.org/ afp/
20000901/ 1095.html.
PART 12
468 CHAPTER 75
75 MUCO SAL ULCERATIVE ulcerative lesions are noted on the inner aspects of the labia minora
(Figure 75-1). She is treated with analgesics and oral acyclovir for
DISO RDERS IN FEMALE presumed Herpes simplex virus type 2 (HSV-2). She is also tested for
ADO LESCENTS other STDs including blood tests for syphilis, HIV, and urine tests for
gonorrhea and chlamydia. Her culture of the lesions is positive for
Marjan Attaran, MD HSV-2 as expected. Her other tests are all negative. Her lesions
resolve after 2 weeks.
Mucosal ulcerative disorders in adolescent females can be caused by

sexually transmitted as well as nonsexually transmitted diseases. In INTRO DUCTIO N
this chapter, common mucosal ulcerative disorders are discussed
sequentially and include: HSV-2 is a sexually transmitted infection that usually causes vesicles
1. Vulvar herpes simplex virus (HSV) infection and ulcers in the genito-anal region. HSV-1 usually involves infec-
tions found extra-genitally. HSV-2 infections present with painful
2. Syphilis in teenage females
genital ulcerative lesions. HSV-1 can occur in the genito-anal region
3. Chancroid and HSV-2 can occur on the oral mucosa. There are many people
4. Behcet Disease with positive serologies for both types of herpes simplex that are not
aware of having a “herpes infection” with symptoms.
VULVAR HERPES SIMPLEX

See Chapter 114, Herpes Simplex, for information on all types of
EPIDEMIO LO GY
herpes simplex infections. 1–4
PATIENT STO RY
world and since HSV-2 is primarily sexually transmitted, it is not as
A 16-year-old girl presents with vulvar swelling, pain, and dif culty common in children.
urinating. She admits to being sexually active. On examination,
monitored through the National Health and Nutrition Examination
Survey (NAHNES) found the overall prevalence of HSV-2 from
doctor or health care professional that they had genital herpes. 2
1.4 percent among those aged 14 to 19 years to 26.1 percent

2
by HSV-1.
female partner.
active lesions or as a result of exposure to the secretion of an

individual who has active HSV infection.
-
FIGURE 75-1 Te nd e r ulce rative le sions on the vulva which are p ositive
for he rp e s simp le x virus infe ction. (Use d with p e rmission from Ce nte rs any antibodies to type 1 or 2 HSV or they may have an antibody
for Dise ase Control/Susan Lind sle y, MD.) to usually type 1.
MUCO SAL ULCERATIVE DISO RDERS PART 12
IN FEMALE ADO LESCENTS 469
nervous system. Once triggered the virus can travel down the sen- MANAGEMENT
sory nerve and reactivate the same region as the initial infection.
PREVENTIO N
RISK FACTO RS understand the concept of asymptomatic shedding.
2 MEDICATIO NS
status. 1 ymptoms of herpes episodes when used to treat rst clinical and
recurrent episodes, or when used as daily suppressive therapy.
DIAGNO SIS
clinical bene t for genital herpes. SO R
CLINICAL FEATURES
Figure 75-1). genital HSV infection. The medication should be started within
Lesions may also be noted in the vagina and on the cervix. 6 days of onset of disease. Oral acyclovir may also be used in
recurrent HSV within 2 days of onset.
painful shallow ulcerations.
include: fever, malaise, burning, and paresthesia at the site, loss of infection.
appetite, and headaches. Lymphadenopathy may also be noted.
with the lesions.
menstruation.
more effective than episodic therapy for recurrent infection. The
the base of the unroofed lesion must be swabbed vigorously. The

PRO GNO SIS
cells are then evaluated for HSV infection.
presence of viral antigens. It is rapid, sensitive, and relatively inex-

pensive. Tzanck smear-cells obtained from the base of a vesicle are
stained and then assessed for multinucleated giant cells. This is not PATIENT EDUCATIO N
well trained in this testing.

herpes virus.
encephalitis is suspected. It is used less often for genital herpes lesions with other individuals.
infections.
This is generally not helpful in acute diagnosis and management. recurrence.
DIFFERENTIAL DIAGNO SIS PATIENT RESO URCES

www.cdc.gov/ std/ Herpes/ STDFact-Herpes.htm.
www.cdc.gov/ std/ herpes/ STDFact-herpes-detailed
include syphilis and chancroid. .htm.
(as discussed in this chapter), lichen planus, lichen sclerosis, herpes PRO VIDER RESO URCES
zoster, and trauma. These entities can usually be distinguished www.cdc.gov/ std/ treatment/ 2010/ STD-Treatment-
based on their characteristic appearance and usual involvement in 2010-RR5912.pdf.
areas other than the genital tract.
www.cdc.gov/ std/ treatment/ 2010/ genital-ulcers
.htm# hsv.
for sexual abuse (see Chapter 9, Child Sexual Abuse).
PART 12
470 CHAPTER 75
SYPHILIS O N THE MUCO SAL EPIDEMIO LO GY

SURFACES O F ADO LESCENT
FEMALES
adult population. 6
6
infections.
PATIENT STO RY ETIO LO GY AND PATHO PHYSIO LO GY
A 16-year-old female noted several nonpainful bumps while shaving

her vulvar area (Figure 75-2). She noted in the ensuing couple days lesions. The spirochete enters through areas of micro trauma in the
that the surface of the some of the bumps eroded into ulcers. While mucous membranes.
this was not painful she was scared and presented to her physician
for evaluation. She admitted to having had intercourse (unprotected) < 2 years of infection) versus late (> 2 years of infection).
and con rmatory treponemal test were positive. She was treated with RISK FACTO RS
one dose of 2.4 million units of benzathine penicillin given intramus-
fortunately, were negative.
INTRO DUCTIO N
coerced sex.
Syphilis is an infection caused by the spirochete Treponema pallidum. It
causes ulcerative lesions on the external genitalia.
DIAGNO SIS
CLINICAL FEATURES
and lasts for 3 to 6 weeks. There is associated lymphadenopathy.
appears about 3 weeks after transmission. It heals with or without

treatment.
The patient experiences skin rashes and mucous membrane lesions.

Sometimes condyloma lata (large raised, gray, or white lesions)
may develop in areas such as the mouth, under arms and groin area
(Figure 75-3).
lymph glands, sore throat, muscle aches, and fatigue.
will damage internal organs such as the brain, eyes, joints, and bones.
DISTRIBUTIO N
rectum. Chancres may also occur on the lips and the mouth.
~
FIGURE 75-2 Cond yloma lata le sions o f se cond ary syp hilis in a young
fe male . (Use d with p e rmission from Ce nte rs fo r Dise ase Control/Joyce screening tools but not very speci c and can produce false
Aye rs, MD.) positive results. 7
especially HIV.
tested and treated.
PRO GNO SIS
from getting reinfected.
PATIENT EDUCATIO N
The lesions of syphilis will resolve spontaneously but they must be

treated to prevent progression of the infection.
PATIENT RESO URCES

www.cdc.gov/ std/ syphilis/ STDFact-Syphilis.htm.
FIGURE 75-3 Cond yloma lata le sions involving the vulva and anal PRO VIDER RESO URCES
re g ion. (Use d with p e rmission from Ce nte rs for Dise ase Control.)
.htm# hsv.
~ These tests are necessary to con rm the diagnosis of syphilis.
~
T. pallidum CHANCRO ID
7
PATIENT STO RY
-
ica and noticed a red bump on her vulva that started one week ago.
this chapter. She is presenting now to her physician as it is quite painful and has an
ulcer (Figure 75-4). She has had swelling in the inguinal region
inguinal lymphadenopathy. A genital ulcer or papule may occur but
often is not seen or missed.
-
terized by painless, slowly progressive ulcerative lesions in the genital
tract or perineum without regional lymphadenopathy.
MANAGEMENT
MEDICATIO NS
patient with primary, secondary and early latent syphilis. SO R
tetracycline but the evidence for these treatments is not as rm FIGURE 75-4 Chancro id ulce r on the p oste rior vag inal wall. (Use d with
as for penicillin. p e rmission from Ce nte rs for Dise ase Control/Susan Lind sle y, MD.)
PART 12
472 CHAPTER 75
11
bilaterally and these areas are painful to her also. She denies any
change in her vaginal discharge and states she has been sexually active 12
in the past. A culture of the ulcer is negative for HSV and

her syphilis serologies are negative. A diagnosis of probable Chan-
croid is made and she is treated with one gram of oral azithromycin.
The lesions and inguinal lymphadenopathy resolve within 7 days. DIFFERENTIAL DIAGNO SIS
-
INTRO DUCTIO N
Chancroid is an infection caused by Haemophilus ducreyi. It presents as may be needed if syphilis is being considered.
genital ulceration that may be associated with regional lymphadenitis
and bubo formation. inguinal lymphadenopathy. A genital ulcer or papule may occur but
often is not seen or missed.
EPIDEMIO LO GY
Africa. Characterized by painless, slowly progressive ulcerative

9 lesions in the genital tract or perineum without regional lymphade-
nopathy.
commercial sex work.

MANAGEMENT
ETIO LO GY AND PATHO PHYSIO LO GY the clinical symptoms, and prevent transmission to others.
Haemophilus ducreyi, a gram negative bacteria. ~ The CDC recommends one of the following regimens:
~ Azithromycin, 1 gram in oral dose in a single dose.
~
from abrasions that occur during sexual intercourse.
~ -
indicated in pregnancy).
~
H. ducreyi produces a cytotoxin that causes cell injury and subse-

quent ulcer formation. ~ -
ing buboes can be considered. SO R
DIAGNO SIS
~ -
quent aspirations and possible spontaneous rupture.
CLINICAL FEATURES

ulcer is seen in conjunction with pustular inguinal lymphadenopathy.
with scraping. on safe sex.

H. ducreyi is isolated from the lesion.
~ One or more painful genital ulcers exist. PRO GNO SIS

~ No evidence of syphilis 7 days after onset of ulcers (serologies
negative). -
~ Clinical presentation is typical of chancroid. ment of ulcerative symptoms.
~ HSV testing is negative.
-
LABO RATO RY TESTING ered. Co-infection with HIV or another STD such as syphilis should
H. ducreyi. be considered. 11
H. ducreyi.
resolved over several days. She returned one month later with a simi-
FO LLO W-UP lar presentation. Behcet syndrome was suspected and she was
referred to pediatric rheumatology.
and then follow-up HIV and serologic syphilis test three months
later. INTRO DUCTIO N
PATIENT RESO URCES
www.emedicine.medscape.com/ article/ 214737- recurrent oral, genital, and cutaneous mucosal lesions, often associ-
overview. ated with uveitis.
000635.htm.
EPIDEMIO LO GY
www.cdc.gov/ std/ stats10/ gures/ 48.htm. 13
-
.htm# hsv.
nean area and the Middle East Countries. Turkey reports the high-
est prevalence of BD. 14
BEHCET DISEASE However, it has also been noted in children and adolescents.
PATIENT STO RY
A 12-year-old nonsexually active girl presented to the pediatrician 13
with vulvar pain that had begun 4 days prior to presentation. Exami-
nation revealed ulcerative lesions on both labia majora (Figure 75-5).
HSV cultures and syphilis serologies were negative. The lesions may account for this disease.
A B
FIGURE 75-5 Bilate ral ulce rative le sions in a 12-ye ar-old g irl with re curre nt vulvar le sions on lab ia majora (A) and close -up
vie w (B). The g irl was found to have Be hce t d ise ase . (Use d with p e rmission fro m Marjan Attaran, MD.)
PART 12
474 CHAPTER 75
13
reveals neutrophils, CD4+ T cells, and cytotoxic cells.
patients with genetic susceptibility. These may be bacterial or viral

in origin.
T cells.
manifestations except for the primary event, and have classic vesic-
Chapter 114, Herpes Simplex).

RISK FACTO RS
ulcerative lesions, but in time develop gastrointestinal symptoms
DIAGNO SIS conjunctivitis.
The diagnosis depends on the existence of speci c clinical features.

There is no speci c laboratory test. A major or minor aphthous oral
ulceration should be noted at least three times in a 12 month period
MANAGEMENT
experience two minor criteria, which may include eye lesions, skin
lesions, genital lesions, and a positive pathergy test. 14 NO NPHARMACO LO GIC
appearance or worsening of lesions after trauma to the involved area. -
A pathergy skin test can be performed with a needle prick and the ing treatment of BD. 16,17
appearance of a pustule or papule surrounded by erythema 24 to
for BD.
MEDICATIO NS
-
CLINICAL FEATURES
costeroids may be helpful. SO R
-
other manifestations of BD by many years.
ation and provides fast relief of symptoms. SO R
-
thematous border and may be located on the buccal mucosa, lips,
episodes and the severity of symptoms. SO R
gingivae, soft palate, and pharynx.
control the arthritis and arthralgia when used in combination with

and prepuce and scrotum in men.
colchicine. SO R
lesions include erythema nodosum, papulopustular lesions, and REFERRAL

pseudofolliculitis.
- strongly considered.
ing complaints may be blurry vision and gravelly sensation in the
eye.
morbidity associated with the eye involvement of BD.
problems. BD can affect arteries and veins and mucosal ulcers can PRO GNO SIS
occur anywhere along the gastrointestinal tract.
-
centage of patients.
Clinical Medicine
disease as this may lead to increased morbidity and mortality.
Pediatrics in Review
PATIENT RESO URCES
SexuallyTransmitted
www.behcets.com/ site/ pp.asp?c=bhJIJSOCJrH&b=
Diseases, Statistics
262161.
www.medicinenet.com/ behcets_syndrome/
article.htm.
management. Sex Trans Infect
PRO VIDER RESO URCES SexuallyTransmitted
Diseases Guidelines
www.niams.nih.gov/ Health_Info/ Behcets_Disease/
default.asp.
-
REFERENCES and herpes simplex virus types 1 and 2 from genital ulcers. J Clin
Microbiol
Herpes Simplex. Pediatrics in Review
D. New Insights into the pathogenesis of Behcet’s disease. Autoim-
National Health and Nutrition examination survey. munity reviews.
N Engl J Med. International Journal of STD and AIDS
- et al. Demographic and clinical properties of jeuvenile-onset

ally transmitted infections among female adolescents aged 14 to Behcets disease: a controlled multicenter study. J Am Acad
Pediatrics Dermatol
2010 Guidelines for Current opinion in Rheuma-
Treatment of Sexually Transmitted Diseases tology.
a critical digest of the recent literature. Clinical Experimental

SexuallyTansmitted Rheumatology
Diseases Guidelines
PART 12
476 CHAPTER 76
76 BACTERIAL VAGINO SIS

PATIENT STO RY
associated with a thin discharge. There is no associated pain. She is

unmarried and has had three lifetime sexual partners. On examina-
tion, her discharge is visible (Figure 76-1). It is thin and off-white.
Wet prep examination shows that more than 50 percent of the
epithelial cells are clue cells (Figure 76-2). Tests for STDs are all
negative. The patient is treated with oral metronidazole 500 mg bid
INTRO DUCTIO N
Bacterial vaginosis (BV) is a clinical syndrome resulting from altera-

tion of the vaginal ecosystem. It is called a vaginosis, not a vaginitis,
because the tissues themselves are not actually infected, but only have
super cial involvement. Women with BV are at increased risk for the FIGURE 76-2 Clue ce ll and b acte ria se e n in b acte rial vag inosis. The
lowe r ce ll is a clue ce ll cove re d in b acte ria while the up p e r ce ll is a
acquisition of HIV, Neisseria gonorrhoeae, Chlamydia trachomatis, and normal e p ithe lial ce ll. Lig ht microscop e und e r hig h p owe r. (Use d with
herpes simplex virus (HSV)-2, and they have increased risk of com- p e rmission from E.J. Maye aux, Jr., MD.)
plications after gynecologic surgery. 1
BV is associated with adverse pregnancy outcomes, including pre-

mature rupture of membranes, preterm labor, preterm birth, in-
traamniotic infection, and postpartum endometritis. However, the
only established bene t of BV therapy in pregnant women is the re-
duction of symptoms and signs of vaginal infection. 1
SYNO NYMS
Corynebacterium vaginosis/ vaginalis/ vaginitis.

Gardnerella vaginalis/ vaginosis.
Haemophilus vaginalis/ vaginitis.
EPIDEMIO LO GY
or malodor in women presenting for care in the US. However,

more than 50 percent of women with BV are asymptomatic. 1
FIGURE 76-1 Bacte rial vag inosis in 17-ye ar-old p re g nant te e n with
homog e ne ous, thin white vag inal d ischarg e . She re p orts some vag inal It accounts for more than 10 million outpatient visits per year. 2
itching and od or. (Use d with p e rmission from E.J. Maye aux, Jr., MD.) The worldwide prevalence is unknown.
PART 12
BACTERIAL VAGINO SIS 477
Lactobacillus is the most common

organism composing normal vaginal ora after puberty. 1 In BV,
normal vaginal lactobacilli are replaced by high concentrations of
anaerobic bacteria such as Mobiluncus, Prevotella, Gardnerella, Bacte-
roides, and Mycoplasma species. 1,2
Lactobacillus may help in
inhibiting the growth of atypical ora.
altered bacterial ora in the vagina. These aromatic amines include

putrescine and cadaverine—aptly named to describe their foul odor.
RISK FACTO RS
1,3
1
FIGURE 76-3 A homoge ne ous, off-white creamy malod orous d ischarg e
that ad he re s to the vag inal walls and p oo ls in the vag inal vault in a
wo man with b acte rial vag ino sis. (Use d with p e rmission from Richard P.
DIAGNO SIS Usatine , MD.)
CLINICAL FEATURES
discharge that is more noticeable after coitus (the basic pH of seminal

uid is like doing the whiff test with KOH). There may be pruritus but
not as often as seen with Candida vaginitis. The physical examination
should include inspection of the external genitalia for irritation or
discharge. Speculum examination is done to determine the amount
N. gonorrhoeae, Chlamydia, and/ or C. trachomatis (or similar test) should

be performed on genital specimens (urethral or cervical) or urine.
four signs and symptoms:

~ Homogeneous, thin, white discharge that smoothly coats the
vaginal walls (Figures 76-3 and 76-4).

~ Figure 76-2).
~ pH of vaginal uid > 4.5.
10 percent KOH (i.e., the whiff test). 1
with menopausal patients, Trichomonas

piece of pH paper is touched to the vaginal discharge during the
exam or on the speculum. Do not test a wet-prep sample if saline
has been added because the saline alters the pH. FIGURE 76-4 Bacte rial vag inosis se e n on the ce rvix with a white
homogeneous discharg e. Note the lack of clump ing or “cottage-che e se ”
ap p e arance usually found with Cand id a infe ctions. (Use d with p e rmis-
the vaginal sidewall, placing the sample of discharge into normal sio n from E.J. Maye aux, Jr., MD.)
PART 12
478 CHAPTER 76
saline (not water). Observe for clue cells, number of white blood TABLE 76-1 CDC Re comme nd e d Re g ime ns SO R
cells, trichomonads, and candidal hyphae. Clue cells are squamous
epithelial cells whose borders are obscured by attached bacteria. Me tronid azole 500 mg orally twice a d ay for 7 d ays
OR
clue cells (Figure 76-2). Me tronidazole ge l 0.75 p e rce nt, 1 full ap p licator (5 g )
intravag inally, once a d ay for 5 d ays
G. vaginalis OR
-
able performance characteristics compared with Gram stain (gold Clindamycin cre am 2 p e rce nt, 1 full ap p licator (5 g )
standard). 1 However, they are more costly than traditional testing. intravag inally at b e d time for 7 d ays
CDC Alt e rnat ive Re g ime ns SO R
trimethylamine, it has low sensitivity and speci city and is not recom- Tinidazole 2 g orally once d aily for 3 d ays
1
OR
G. vaginalis is not recommended as a diagnostic tool Tinidazole 1 g orally once d aily for 5 d ays
because it is not speci c.
OR
Clindamycin 300 mg orally twice a d ay for 7 d ays
sensitivity. 1
OR
Clindamycin ovule s 100 mg intravag inally once at
DIFFERENTIAL DIAGNO SIS b e d time for 3 d ays
OR
Trichomonas also may have the odor of aromatic amines and, there-
Me tronid azole 750-mg e xte nd e d -re le ase tab le ts once
-
d aily for 7 d ays
berry cervix on examination and moving trichomonads on the wet
CDC Re co mme nd e d Re g ime ns fo r
Candida vaginitis tends to present with a cottage-cheese-like dis- Pre g nant Wo me n SO R
Candida Vulvovaginitis). Me tronidazole 500 mg orally twice a d ay for 7 d ays
OR
vaginal discharge. Consider testing for these sexually transmitted Me tronidazole 250 mg orally thre e time s a d ay for
diseases (STDs) based on patients’ risk factors and the presence 7 d ays
of purulence clinically and white blood cells on the wet prep OR
Clindamycin 300 mg orally twice a d ay for 7 d ays
Data from Ce nte rs for Dise ase Control and Pre ve ntion.1
MANAGEMENT
-
ing the recurrence of BV. 1 SO R is to relieve vaginal symptoms and signs of infection. 1 SO R -
tional potential bene ts of therapy include (a) reducing the risk for
MEDICATIO NS infectious complications associated with BV during pregnancy and
(b) reducing the risk for other infections (e.g., other STDs or
are to (a) relieve vaginal symptoms and signs of infection and (b)
association between metronidazole use during pregnancy and tera-
reduce the risk for infectious complications after abortion or hys-
togenic or mutagenic effects in newborns. 5
terectomy. 1 SO R Other potential bene ts might include a reduc-
tion in risk for other sexually transmitted infections (STIs). 1 -
SO R Table 76-1 shows CDC recommended treatments. -
tion of a recommended regimen was effective in maintaining a
SO R
BV and is no longer a recommended or alternative regimen.
Clindamycin cream is oil-based and might weaken latex condoms -
and diaphragms for 5 days after use. Topical clindamycin prepara- vaginal boric acid and suppressive metronidazole gel for those
tions should not be used in the second half of pregnancy. 1 women in remission might be an option in women with recurrent
studies and meta-analyses have not demonstrated an association BV. SO R
between metronidazole use during pregnancy and teratogenic or
mutagenic effects in newborns. 1 SO R outcomes if used in the latter half of pregnancy. 1
PART 12
BACTERIAL VAGINO SIS 479
CO MPLEMENTARY AND ALTERNATIVE THERAPY PRO VIDER RESO URCES

2010 Guidelines for
theoretically increase colonization by lactobacilli and decrease the Treatment of Sexually Transmitted Diseases—www.cdc.gov/ std/
episodes of BV. SO R However, health food store lactobacilli treatment/ 2010/ STD-Treatment-2010-RR5912.pdf.
are the wrong strain and are not well retained by the vagina.
probiotic lactobacilli vaginal gelatin capsules has been reported in REFERENCES

two small trials.
Guidelines for Treat-
ment of Sexually Transmitted Diseases. http:// www.cdc.gov/ std/
PREVENTIO N
December 24, 2011.
BV is common. lactobacillus species, cervical chlamydia trachomatis, and bacte-

rial vaginosis to preterm birth. Obstet Gynecol.
in pregnant women at high risk for preterm delivery. 1
women who have sex with women. Clin Infect Dis.
FO LLO W-UP
- behaviors and bacterial vaginosis. Sex Transm Dis.

toms resolve. 1
in pregnancy: a meta-analysis. Am J Obstet Gynecol.
risk for preterm delivery might prevent adverse pregnancy out-
comes. Therefore, a follow-up evaluation 1 month after comple-
tion of treatment should be considered to evaluate whether therapy
was effective. 1 SO R recurrent bacterial vaginosis. Am J Obstet Gynecol.
the original regimen to treat recurrent disease. 1 SO R

antimicrobial therapy for recurrent bacterial vaginosis. Sex Transm
Dis.
PATIENT EDUCATIO N
vaginosis with tinidazole. Obstet Gynecol.
for 24 hours thereafter. Women should be advised to return for
additional therapy if symptoms recur because recurrence of BV is
not unusual. -
nidazole vaginal gel to treat symptomatic bacterial vaginosis.
PATIENT RESO URCES Microbes Infect.
. Bacterial Vaginosis
Fact Sheet—www.cdc.gov/ std/ BV/ STDFact-Bacterial- for recurrent bacterial vaginosis: a double-blind, randomized,
Vaginosis.htm. placebo-controlled study. Am J Obstet Gynecol.
www.medicinenet.com/ bacterial_
vaginosis/ article.htm.
PART 12
480 CHAPTER 77
77 CANDIDA
VULVO VAGINITIS
PATIENT STO RY
An 18-year-old woman presents with severe vaginal and vulvar itch-

ing and a thick white discharge. Figure 77-1 shows the appearance of
her vulva with redness and excoriations. Note the satellite lesions
near the borders of the in amed areas. Her pelvic examination dem-
onstrated a thick adherent discharge on the vaginal wall and cervix
(Figure 77-2) that is consistent with an active candida infection.
Treatment with a prescription anti-candida drug was successful.
INTRO DUCTIO N
Vulvovaginal candidiasis (VVC) is a common fungal infection in

women of childbearing age. Pruritus is accompanied by a thick, odor-
less, white vaginal discharge. VVC is not a sexually transmitted dis-
ease. On the basis of clinical presentation, microbiology, host factors, FIGURE 77-2 Cand ida vaginitis. Note the thick white ad herent “cottage-
and response to therapy, VVC can be classi ed as either uncompli- cheese-like” discharge. (Used with permission from E.J. Mayeaux, Jr., MD.)
cated or complicated. 1 Uncomplicated VVC is characterized by
sporadic or infrequent symptoms, mild-to-moderate symptoms, and

the patient is nonimmunocompromised. Complicated VVC is charac-
terized by recurrent (four or more episodes in 1 year) or severe
VVC, non-albicans candidiasis, or the patient has uncontrolled diabe-
tes, debilitation, or immunosuppression. 1
SYNO NYMS
Yeast vaginitis, yeast infection, candidiasis, moniliasis.
EPIDEMIO LO GY
Figure 77-3) is usually not isolated in prepubertal girls

except when predisposing factors, such as a recent course of antibi-
otics, diabetes, or the wearing of diapers are present. 2
1
Candida species are part of the lower genital tract ora in 20 to

50 percent of healthy asymptomatic women.
one episode of VVC. Of these, 40 to 45 percent will have two or

more episodes within their lifetime. 4 Approximately 10 to
20 percent of women will have complicated VVC that necessitates
FIGURE 77-1 Cand id a vulvovag initis in an 18-ye ar-old who com- diagnostic and therapeutic considerations.
p laine d of se ve re vag inal and vulvar itching . She had e rythe ma and
e xcoriations of the vulva. Note the sate llite le sions ne ar the b ord e rs of
the in ame d are as. (Use d with p e rmission from E.J. Maye aux, Jr., MD.) secondary to altered vaginal ora.
PART 12
CANDIDA VULVO VAGINITIS 481
-
ine devices).
commonly, anogenital sex.
not associated with Candida infection.
hygienic habits or wearing tight or synthetic clothing.
DIAGNO SIS
CLINICAL FEATURES
FIGURE 77-3 We t mount with KO H showing Cand id a alb icans in a
te e n with Cand id a vag initis. Se e n und e r hig h p owe r d e monstrating
b ranching p se ud ohyp hae and b ud d ing ye ast. (Use d with p e rmissio n (Figures 77-1 and 77-2). Typical symptoms include pruritus,
from Richard P. Usatine , MD.) vaginal soreness, dyspareunia, and external dysuria. Typical signs
include vulvar edema, ssures, excoriations, or thick, curdy vaginal
discharge. 1
and up to 5 percent experience recurrent disease. 1
- Candida generally has a normal vaginal pH
centage of women (< 5%). 5 of less than 4.5.
-
tion may be caused by Candida recolonization of the vagina from Figures 77-3 and 77-4
the rectum. 6 also demonstrate white blood cells, trichomonads, candidal hyphae,
or clue cells.

-
lial cells in 5 to 15 minutes (faster if the slide is warmed) and
Candida albicans
allows easier visualization of candidal hyphae or yeast. 1
(Figure 77-3). 1,7 Candida glabrata now causes a signi cant percent-
Lamkins stain (potassium hydroxide, a surfactant, and blue dye) may
age of all Candida vulvovaginal infections. This organism is resistant
facilitate diagnosis by staining the yeast organisms a light blue.11
activity of treatment drugs much faster than albicans species. 8
with erythema of the vagina and vulva (Figures 77-1 and 77-2).
The familiar reddening of the vulvar tissues is caused by an ethanol
by-product of the Candida infection. This ethanol compound also
produces pruritic symptoms. A scalloped edge with satellite lesions
is characteristic of the erythema on the vulva.
women with these recurrences have no apparent predisposing or

underlying conditions. 1
RISK FACTO RS9,10
FIGURE 77-4 We t mount with saline showing Cand id a in a te e n with

Candida vag initis. Note how the b ranching pse ud ohyp hae and b ud d ing
ye ast can b e se e n e ve n thoug h the e p ithe lial ce lls have not b e e n lyse d
b y KO H. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 12
482 CHAPTER 77
Candida. The detection of

vaginal yeast by rapid antigen testing is feasible for of ce practice from treatment. 1 SO R
and more sensitive than wet mount. A negative test result, how- -
ever, was not found to be sensitive enough to rule out yeast and tion preparation or who has a recurrence of symptoms within
avoid a culture. 7 SO R 2 months should be evaluated with of ce-based testing as they are
not necessarily more capable of diagnosing themselves even with
Candida medium should be considered in patients with prior diagnosed episodes of VVC and delay in the treatment
C. glabrata does not form of other vulvovaginitis etiologies can result in adverse clinical
pseudohyphae or hyphae and is not easily recognized on micros- outcomes. 1 SO R
Candida cultures cannot be
done, empiric treatment can be considered for symptomatic MEDICATIO NS
women with any sign of VVC on examination. 1 SO R Asymptom-
atic women should not be cultured as 10 to 20 percent of women
harbor Candida sp. and other yeasts in the vagina. 1 SO R
treat uncomplicated VVC (Table 77-1). 1 SO R Topical azole
drugs are more effective than nystatin, and result in clinical cure
to con rm the clinical diagnosis and to identify unusual species, and negative cultures in 80 to 90 percent of patients who complete
including non-albicans species, particularly C. glabrata (C. glabrata therapy. The creams and suppositories in Table 77-1 are oil-based
does not form pseudohyphae or hyphae and is not easily recognized and might weaken latex condoms and diaphragms. 1 SO R
on microscopy). 1 SO R C. glabrata and other non-albicans Candida
1
-
TABLE 77-1 Ce nte rs for Dise ase Control and Pre ve ntion
1 SO R Re comme nd e d Tre atme nt Re g ime ns
Int ravag inal Ag e nt s:

But o co nazo le 2 p e rce nt cre am 5 g intravag inally for
DIFFERENTIAL DIAGNO SIS 3 d ays
But o co nazo le 2 p e rce nt cre am 5 g (Butaconazole
1-sustaine d re le ase ), single intravaginal application*
may report itching and a discharge in both diagnoses. Look for the Clo t rimazo le 1 p e rce nt cre am 5 g intravag inally for
strawberry cervix on examination and moving trichomonads on the 7 to 14 d ays
wet prep (Chapter 78, Trichomonas Vaginitis). Clo t rimazo le 2 p e rce nt cre am 5 g intravag inally for
3 d ays
patients may report a discharge and an odor in both diagnoses. Clo t rimazo le 100 mg vag inal sup p ositorie s, one
The odor is usually much worse in bacterial vaginosis and the intravag inally for 3 d ays
quality of the discharge can be different. The wet prep should Mico nazo le 2 p e rce nt cre am 5 g intravag inally for
allow for differentiation between these two infections (Chapter 7 d ays
Miconazole 100 mg vaginal suppository, 1 suppository
Chlamydia should not be missed in patients with for 7 d ays
Miconazole 200 mg vaginal suppository, 1 suppository
risk factors and the presence of purulence clinically and white blood for 3 d ays
cells on the wet prep (Chapter 79, Chlamydia Cervicitis). Miconazole 1200 mg vaginal suppository, 1 suppository
for 1 d ay
candidiasis. Cytolytic vaginosis is produced by a massive desqua- Nystatin 100,000-U vaginal tablet, 1 tablet for 14 days*
mation of epithelial cells related to excess lactobacilli in the Tio co nazo le 6.5 p e rce nt ointme nt 5 g intravag inally
vagina. The signs and symptoms are similar to Candida vaginitis, in a sing le ap p lication
except no yeast are found on wet prep. The wet prep will show an Te rco nazo le 0.4 p e rce nt cre am 5 g intravag inally for
overgrowth of lactobacilli. The treatment is to discontinue all anti- 7 d ays*
fungals and other agents or procedures that alter the vaginal ora. Te rco nazo le 0.8 p e rce nt cre am 5 g intravag inally for
3 d ays*
Te rco nazo le 80 mg vag inal sup p ository, 1 sup p ository
MANAGEMENT for 3 d ays*
O ral Ag e nt :
NO NPHARMACO LO GIC Fluconazole 150-mg oral tablet, 1 tablet in single dose*
of sex partners is not recommended but may be considered in *Pre scrip tion only in the US.
Data from the Ce nte rs for Dise ase Control and Pre ve ntion.1
PART 12
CANDIDA VULVO VAGINITIS 483
- modi able conditions should be made, and more prolonged (i.e., 7 to

vaginal treatments are equal. 12 - 14 days) conventional antimycotic treatment is necessary. 1 SOR
gle dose has become very popular, but may have clinical cure rates
possible with the oral agents. SO R

isolation of non–C. albicans species from the vagina. According to the
appear to be effective. 1 SO R
- differ from that for seronegative women.1 SOR
pies, applied for 7 days, are recommended for use among pregnant
women. 1 SO R FO LLO W-UP
albicans VVC remains unknown.
Options include longer duration of therapy (7 to 14 days) with top-
ical therapy or a 100-mg, 150-mg, or 200-mg oral dose of ucon- if symptoms persist or recur within 2 months of onset of initial
1 SO R
symptoms. 1
and ssure formation) is associated with lower clinical response

rates in patients treated with short courses of topical or oral ther- PATIENT EDUCATIO N
apy. Either 7 to 14 days of topical azole or 150 mg of uconazole in
two sequential doses (second dose 72 hours after initial dose) is
recommended. 1 SO R VVC are not necessarily more likely to be able to diagnose them-
selves. 1 Any woman whose symptoms persist after using an non-
CO MPLEMENTARY AND ALTERNATIVE THERAPY prescription preparation, or who has a recurrence of symptoms
within 2 months, should be evaluated with of ce-based testing.
is recommended, administered vaginally once daily for 2 weeks. Explain that unnecessary or inappropriate use of nonprescription
This regimen has clinical and mycologic eradication rates of preparations can lead to a delay in the treatment of other vulvovag-
approximately 70 percent. 1 SO R initis etiologies, which can result in adverse clinical outcomes. 1
Lactobacillus acidophilus does not adhere well to the vaginal epithe- PATIENT RESO URCES
lium, and it does not signi cantly change the incidence of candidal
Vaginal Yeast Infection (Yeast Vaginitis)
vulvovaginitis.
www.medicinenet.com/ yeast_vaginitis/ article.htm.
-
Yeast Infections www.nlm.nih.gov/
medlineplus/ yeastinfections.html.
oil, yogurt, or douching, are effective for the treatment or preven-
tion of VVC caused by C. albicans. 14,15 Candidiasis www.emedicinehealth.
com/ candidiasis_yeast_infection/ article_em.htm.
PREVENTIO N PRO VIDER RESO URCES

2010 Guidelines for
MAINTENANCE REGIMENS Treatment of Sexually Transmitted Diseases www.cdc.gov/ std/
Am Fam
some specialists recommend topical clotrimazole 200 mg twice a Physician www.aafp.org/ afp/
week, clotrimazole (500 mg dose vaginal suppositories once weekly), 20041201/ 2125.html.
or other topical treatments used intermittently. 1 SO R Candidiasis www.emedicine.medscape.com/
- article/ 213853-overview.
1 SO R
Vulvovaginitis in Emergency Medicine www
have recurrent disease after maintenance therapy is discontinued. .emedicine.medscape.com/ article/ 797497-overview.
C. albicans azole
resistance is rare in vaginal isolates, and susceptibility testing is
usually not warranted for individual treatment guidance. REFERENCES
2010 Guidelines for
PRO GNO SIS Treatment of Sexually Transmitted Diseases
accessed November 2, 2011.

with uncontrolled diabetes or those receiving corticosteroid treatments)
do not respond as well to short-term therapies. Efforts to correct vulvovaginitis in prepubertal girls? BMJ.
PART 12
484 CHAPTER 77
Candida vaginitis. Infect Dis Clin Pract (BaltimMd)

normal young women. Br Med J.
Candida vaginitis. Postgrad Med J. nail scrapings, and hair. Arch Dermatol.
- compared with conventional clotrimazole topical therapy of can-

nal candidiasis. Am J Obstet Gynecol. dida vaginitis. Am J Obstet Gynecol.
-
ing acidophilus compared with pasteurized yogurt as prophylaxis
for recurrent candidal vaginitis and bacterial vaginosis. Arch Fam controlled trial. BMJ.
Med. -
- tary and alternative therapies for yeast vaginitis and bacterial vagino-
Obstet Gynecol Surv.
Pediatrics. -
ture review and acceptability survey. Altern Ther Health Med.
J Clin Pharmacol.
Am J Public Health.
PART 12
TRICHO MO NAS VAGINITIS 485
78 TRICHO MO NAS
VAGINITIS
PATIENT STO RY
A 17-year-old teen presents with a vaginal itching, odor, and dis-

charge for several weeks. She has one partner who is asymptomatic.
Speculum examination shows a cervix (Figure 78-1) with a copious
foamy white discharge with a shy odor. Wet mount shows tricho-
monads swimming in saline (Figures 78-2 and 78-3). The trichomo-
nads are larger than white blood cells (WBCs) and have visible agella
and movement. She is diagnosed with trichomoniasis and treated with FIGURE 78-2 We t mount showing Trichomonas in saline und e r lo w
p owe r. The re are two visib le trichomonad s to the rig ht and ab ove the
2 g of metronidazole in a single dose. The patient is tested for other tip of the p o inte r. The larg e st ce lls are vag inal e p ithe lial ce lls with vis-
sexually transmitted diseases (STDs) and her partner is treated with ib le nucle i. (Use d with p e rmission from Richard P. Usatine , MD.)
the same regimen.
INTRO DUCTIO N SYNO NYMS
Trichomonas vaginitis is a local infection caused by the protozoan Trichomoniasis, trich, tricky monkeys.
Trichomonas vaginalis that is associated with vaginal discharge and irri-
tation. The patient often has an itch and an odor along with the dis-
charge but may be asymptomatic.
EPIDEMIO LO GY
in the US. 1
180 million cases per year; and these cases account for 10 to
percent of all vaginal infections. 2
FIGURE 78-1 Trichomonas infe ction se e n on the ce rvix. The re is a FIGURE 78-3 We t mount showing Trichomonas (arrows) in saline
thick foamy o ff-white d ischarg e . (Use d with p e rmission from Richard P. und e r hig h p owe r. The smalle r more g ranular ce lls are white b lood
Usatine , MD.) ce lls. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 12
486 CHAPTER 78
infection with Trichomonas vaginalis.
Trichomonas infection is caused by the unicellular protozoan T. vaginalis.

T. vaginalis are asymp-
body, making transmission from shared undergarments or from

infected hot spas possible although extremely unlikely.
Trichomonas infection is associated with low-birth-weight infants,
premature rupture of membranes, and preterm delivery in preg-
nant patients. 6
T. vaginalis
Trichomonas infection may also
Studies from Africa have suggested that T. vaginalis infection may

7
RISK FACTO RS3 FIGURE 78-4 Close -up of strawb e rry ce rvix in a Trichomonas infe ction
d e monstrating in ammation and p unctate he morrhag e s. (Use d with
DIAGNO SIS
CLINICAL FEATURES
genitalia for irritation or discharge (Figures 78-1 and 78-5).

Speculum examination is done to determine the amount and
character of the discharge and to look for the characteristic straw-
berry cervix (Figures 78-4). This strawberry pattern is caused by
in ammation and punctate hemorrhages on the cervix.
yellow-green discharge (Figure 78-5) with vulvar irritation.
because this can lower the yield of diagnostic tests. Patients who
have been told not to douche will sometimes start wiping the
vagina with soapy washcloths to “keep clean” as an alternative. This
greatly irritates the vagina and cervix, lowers test sensitivity, and
may cause a discharge.
Trichomonas vaginalis may be found in the vagina, FIGURE 78-5 Sp e culum e xamination d e monstrating the thick ye llow-
g re e n d ischarg e that may b e se e n in Trichomonas infe ction. The
urethra, and paraurethral glands of infected women. Other sites d ischarg e can also b e frothy white . (Use d with p e rmission from
include the cervix and Bartholin and Skene glands. E.J. Maye aux, Jr., MD.)
PART 12
TRICHO MO NAS VAGINITIS 487
LABO RATO RY TESTING Look for clue cells and trichomonads on the wet prep to differenti-
performed in women seeking care for vaginal discharge. Screening Candida vaginitis tends to present with a cottage-cheese-like
should be considered for women with risk factors.
Chlamydia and should not be missed in patients with
the vaginal side-wall, placing the sample of discharge into normal vaginal discharge. Consider testing for these STDs based on
saline (not water). A drop of the suspension is then placed on a patients’ risk factors and the presence of purulence clinically and
slide, covered with a coverslip, and carefully examined with the
observe for motile trichomonads, which are often easy to visualize

MANAGEMENT
because of their lashing agella (Figure 78-2).
MEDICATIO NS
and requires immediate evaluation of wet preparation slide for
Table 78-1 shows treatments for T. vaginalis infections.
optimal results. One study found that 20 percent of samples for
(including pregnant patients) are the best treatments by Cochrane
analysis. 12 SO R
order to maximize the sensitivity of this test, all specimens should
be examined immediately after they are taken. 8
indicated as a one-time dose of 2 g for the treatment of trichomo-
niasis (including metronidazole-resistant trichomoniasis). SO R
-
T. vaginalis.
formed on vaginal secretions at the point of care and have a sensi-
-
of tinidazole are similar to those for metronidazole.
-
especially in populations with a low prevalence of disease. moniasis is associated with adverse pregnancy outcomes, particu-
larly premature rupture of membranes, preterm delivery, and low
birth weight. Unfortunately, data do not suggest that metronida-
detection of gonorrhea and chlamydial infection (Amplicor, manu-
zole treatment results in a reduction in perinatal morbidity and
treatment may even increase prematurity or low birth weight.
T. vaginalis in vaginal or endocervical swabs and in urine from
Treatment of T. vaginalis might relieve symptoms of vaginal dis-
charge in pregnant women and might prevent respiratory or genital
infection of the newborn and further sexual transmission. The
T. vaginalis - Centers for Disease Control and Prevention (CDC) recommends
T. vaginalis that clinicians counsel patients regarding the potential risks and
bene ts of treatment during pregnancy.
T. vaginalis can have diminished susceptibility to
infection. Published validation studies found sensitivity ranging
10 metronidazole. Low-level metronidazole resistance has been
Tricho- infections should respond to tinidazole or higher doses or longer

monas infection, or bacterial vaginosis.
women in whom trichomoniasis is suspected but not con rmed by trichomoniasis than oral preparations and is not recommended.
microscopy, vaginal secretions should be cultured for T. vaginalis.
Neisseria gonorrhoeae, and/ or TABLE 78-1 Ce nte rs for Dise ase Control and Pre ve ntion
Chlamydia trachomatis should be performed on all patients with Re comme nd e d Re g ime ns for Pre g nant and
Nonp re g nant Patie nts. SO R
Trichomonas.
- Me t ro nid azo le 2 g orally in a sing le d ose
ity is low and Pap testing is not indicated in adolescents unless they
11 OR
Tinid azo le 2 g orally in a sing le d ose
DIFFERENTIAL DIAGNO SIS CDC Alt e rnat ive Re g ime n SO R
Me t ro nid azo le 500 mg orally twice a d ay for 7 d ays

Trichomonas may have the odor of aromatic
amines, and therefore may easily be confused with each other. Data from Ce nte rs for Dise ase Control and Pre ve ntion.2,4
PART 12
488 CHAPTER 78
-
PREVENTIO N
2000. Perspect Sex Reprod Health
-
partners are cured (i.e., when therapy has been completed and
Pediatrics
-
2010 Guidelines for
mission of Trichomonas. 16
Treatment of Sexually Transmitted Diseases
condoms and limiting the number of sexual partners. accessed December 1, 2011.
FO LLO W-UP pregnancy. J Fam Pract.

Trichomonas vagina-
lis
Sex Transm Dis.
initial infection can be considered for sexually active women.
Trichomonas vaginalis
and African-Americans. Emerg Infect Dis.
PATIENT EDUCATIO N
vaginalis. Int J STD AIDS
Trichomonas should be treated.
Patients can be sent home with a dose for a partner when it is
believed that the partner will not come in on his own.
and gonorrhea to detect Trichomonas vaginalis in urogenital
specimens. J Clin Microbiol.
PATIENT RESO URCES
Trichomonas vaginalis transcription-mediated ampli cation to wet
www.dpd.cdc.gov/ dpdx/ HTML/ Trichomoniasis.htm. mount microscopy, culture, and polymerase chain reaction for
www.nlm.nih.gov/ medlineplus/ ency/ diagnosis of trichomoniasis in men and women. Am J Obstet
article/ 001331.htm. Gynecol.
STDs:Trichomoniasis www.cdc.gov/ std/ trichomonas/ Simoes-Barbosa A. A comparative evaluation of the Papanicolaou

default.htm. test for the diagnosis of trichomoniasis. Sex Transm Dis
Trichomoniasis www.ncbi.nlm.nih.gov/
(Cochrane review) Am Fam Physician.
Trichomoniasis www.nlm.nih.gov/
medlineplus/ trichomoniasis.html.
resistant Trichomonas vaginalis Int J STD AIDS.
Trichomoniasis www.emedicinehealth
.com/ trichomoniasis/ article_em.htm.
Trichomonas
PRO VIDER RESO URCES vaginalis Sex Transm
Dis.
2010 Guidelines for
Treatment of Sexually Transmitted Diseases www.cdc.gov/ std/
vaginalis antimicrobial drug resistance in 6 US cities, STD
Emerg Infect Dis. 2012;
REFERENCES
Trichomonas vaginalis infection among reproductive-age women in

Clin Infect Dis. review. Genitourin Med.
PART 12
CHLAMYDIA CERVICITIS 489
79 CHLAMYDIA CERVICITIS The Centers for Disease Control and Prevention (CDC) recommends
annual screening of all sexually active women ages 25 years and
E.J. Maye aux, Jr., MD younger, and of older women with risk factors, such as having a new
Richard P. Usatine , MD sex partner or multiple sex partners. 1
EPIDEMIO LO GY
PATIENT STO RY
Chlamydia is the most frequently reported
A 16-year-old girl presents to clinic with a complaint of vaginal dis- infectious disease in the US (excluding human papillomavirus
charge. She has only one sexual partner but is unsure if her partner [HPV]). 1 An estimated 1.2 million cases are reported to the CDC
may have had other sexual contacts. On physical examination, there is annually in the US. 2
ectopy and some mucoid discharge (Figure 79-1). The cervix bled -
easily while obtaining discharge and cells for a wet mount and genetic lion cases of Chlamydia trachomatis infection worldwide every year.3
probe test. The wet mount showed many white blood cells (WBCs)
but no visible pathogens. The patient was treated with 1 g of azithro- conducted at an annual cost of $175 million. Every dollar spent on
mycin taken in front of a clinic nurse. She was tested for HIV, syphilis, screening and treatment saves $12 in complications that result from
Trichomonas, GC, and Chlamydia and given a follow-up appointment untreated Chlamydia.
in 1 week. The genetic probe test was positive for Chlamydia and all 5
the other examinations were negative. This information was given to
Chlamydia is infected.
the patient on her return visit and safe sex was discussed.
Based on reports to the CDC provided by states that collect age-
speci c data, teenage girls have the highest rates of chlamydial
INTRO DUCTIO N
another 33 percent.
Chlamydia trachomatis causes genital infections that can result in pelvic
in ammatory disease (PID), ectopic pregnancy, and infertility.
Asymptomatic infection is common among both men and women so
health care providers must rely on screening tests to detect disease.
infection with Chlamydia trachomatis. 6
C. trachomatis is a small Gram-negative bacterium with unique

biologic properties among living organisms. Chlamydia is an obligate
intracellular parasite that has a distinct life-cycle consisting of two
major phases: The small elementary bodies attach and penetrate into
cells, and the metabolically active reticulate bodies that form large
inclusions within cells.
treatment are often necessary. Immunity to infection is not long-lived,

so reinfection or persistent infection is common.
Symptoms of infection when present in women are most commonly

abnormal vaginal discharge, vaginal bleeding (including after inter-
any symptoms. 7
(Fitz-Hugh-Curtis syndrome) urethritis, and epididymitis. It may pro-

duce poor neonatal outcomes including premature rupture of mem-
branes, preterm labor, low birth weight, and infant death, conjunctivi-
tis, and pediatric pneumonia.8
1
Perinatal
Chlamydia is the leading cause of infectious blindness in the world,
FIGURE 79-1 Chlamyd ial ce rvicitis with e ctop y, mucoid d ischarg e , and
irritation in a 16-ye ar-old g irl. The ce rvix is in ame d and friab le . (Use d which is particularly worrisome since adolescents are at increased risk
with p e rmission from E.J. Maye aux, Jr., MD.) for infection and have more barriers to health care screening.9
PART 12
490 CHAPTER 79
Chlamydia infections may lead to reactive arthritis, which presents

with arthritis, conjunctivitis, and urethritis. Past or ongoing C.
trachomatis infection may be a risk factor for ovarian cancer.
Chlamydia will develop
PID. Undiagnosed PID caused by Chlamydia is common. Of those with
-
ening tubal pregnancy. Tubal pregnancy is the leading cause of rst-
trimester, pregnancy-related deaths in American women.
RISK FACTO RS1,2,12
DIAGNO SIS
FIGURE 79-3 Chlamydia cervicitis that p resented with a mild d ischarge.
CLINICAL FEATURES A NAAT test was positive for Chlamyd ia. The rest of her work-up was
negative. (Used with permission from E.J. Mayeaux, Jr., MD.)
The cervix may show ectopy (columnar cells on the ectocervix). The
discharge is usually mucoid or mucopurulent (Figure 79-1 to 79-3).8 infection, which presents as anal pain, discharge, or bleeding.
Persons who engage in oral sex can acquire a pharyngeal infection,
which may present as an irritated throat. 8
-
vical canal and removed to view. A visible mucopurulent discharge
constitutes a positive swab test for Chlamydia (Figure 79-4). This
is not speci c for Chlamydia as other genital infections can cause a
mucopurulent discharge, and is not recommended for diagnosis.
FIGURE 79-4 Mucop urule nt d ischarg e on the le ft swab from a ce rvix

FIGURE 79-2 This p atie nt p resented with spotting afte r intercourse. infe cte d with Chlamyd ia (p ositive swab te st). (Use d with p e rmission
She has cervicitis with ectop y, friab ility, and b le ed ing . NAAT was p ositive from Connie Ce lum and Walte r Stamm, Se attle STD/HIV Pre ve ntion
for Chlamyd ia. (Use d with permission from E.J. Maye aux, Jr., MD.) Training Ce nte r, Unive rsity of Washing ton.)
PART 12

MANAGEMENT
Chlamydia are asymptom-
atic, providing a reservoir for infection. All pregnant women and
NO NPHARMACO LO GIC
sexually active women younger than 25 years of age should be
screened with routine examinations. A wet prep is usually negative Chlamydia cervicitis should be tested for
for other organisms. Only WBCs and normal ora are seen. other STDs. 1
Chlamydia cannot be cultured on arti cial media because it is an obli-
MEDICATIO NS
gate intracellular organism. Tissue culture is required to grow the
live organism. When testing for Chlamydia, a wood-handled swab Table 79-1 shows CDC recommended treatments for Chlamydia.
must not be used, as substances in wood may inhibit Chlamydia
- be directly observed in the clinic. 1 SO R It is the rst-line therapy
1 for Chlamydia during pregnancy.
1
- SO R Avoid dairy products around time of dosing.

city of 97 to 99 percent. 5 Fluorescein-conjugated monoclonal
doxycycline, mainly because of the frequent occurrence of GI side
and a speci city of 97 to 99 percent. 5 effects that can lead to nonadherence.
C. trachomatis can be detected using nucleic acid ampli cation
tests are often used for testing to detect gonorrhea and Chlamydia. TABLE 79-1 Ce nte rs for Dise ase Control and Pre ve ntion
Re comme nd e d Re g ime ns SO R
dif cult-to-reach adolescents (“street kids”) as well as in pediatric
emergency departments and school-based settings. Screening Azithromycin 1 g orally in a sing le d ose
in school-based settings was associated with signi cant reduction OR
in Chlamydia rates during a 1-year period. Self-collected vaginal Doxycycline 100 mg orally twice a d ay for 7 d ays
swab specimens perform at least as well as with other approved
15
- CDC Alt e rnat ive Re g ime ns
cervical, urethral, vaginal, pharyngeal, rectal, or urine samples. Erythromycin base 500 mg orally 4 time s a day for 7 days
OR
nearly identical to that of samples obtained directly from the
Erythromycin e thylsuccinate 800 mg orally 4 time s a d ay
cervix. 16
for 7 d ays
C. trachomatis infection in persons engag-
ing in anal or oral intercourse can be diagnosed by testing at the site OR
O oxacin 300 mg orally twice a d ay for 7 d ays
demonstrated improved sensitivity and speci city compared with OR
culture for the detection at rectal sites, 17 and at oropharyngeal sites
Le vo oxacin 500 mg orally once d aily for 7 d ays
in men. 18
CDC Re co mme nd e d Re g ime ns in Pre g nancy
cytology specimens, although test sensitivity using these specimens Azithromycin 1 g orally in a sing le d ose
might be lower. 19 OR
Chlamydia should be tested for Amoxicillin 500 mg orally 3 time s a d ay for 7 d ays
other STDs as well. 1
Alt e rnat ive Re g ime ns in Pre g nancy
Erythromycin base 500 mg orally 4 time s a day for 7 days
DIFFERENTIAL DIAGNO SIS OR
Erythromycin base 250 mg orally 4 times a day for 14 days
Chlamydia and should be tested
for when a patient is thought to have Chlamydia. The discharge of OR
gonorrhea may be more purulent but this is not always the case. Erythromycin e thylsuccinate 800 mg orally 4 time s a d ay
for 7 d ays
to distinguish between these infections (Chapter 76, Bacterial OR
Vaginosis). Erythromycin e thylsuccinate 400 mg orally 4 time s a d ay
Trichomonas for 14 d ays
on the wet prep. There may also be a positive whiff test (see
Chapter 78, Trichomonas Vaginitis). Data from the Ce nte rs for Dise ase Control and Pre ve ntion.1
PART 12
492 CHAPTER 79
PATIENT RESO URCES

should be taken on an empty stomach. 1 SO R It is contraindicated Cervicitis www.emedicinehealth.com/
in children or pregnant and lactating women, but may also cover cervicitis/ article_em.htm.
Neisseria gonorrhoeae
7 days is another uoroquinolone alternative. 1 SO R Chlamydia www.emedicinehealth.com/
chlamydia/ article_em.htm.
-
sus doxycycline for the treatment of genital chlamydial infection www.cdc.gov/ std/ Chlamydia/
demonstrated that the treatments were equally ef cacious, with STDFact-Chlamydia.htm.
microbial cure rates of 97 and 98 percent, respectively.
seek evaluation and treatment, then delivery of antibiotic therapy Sexually Transmitted Diseases (STDs) 2010: Diseases Charac-
(either a prescription or medication) to their partners is an option. 1 terized by Urethritis and Cervicitis— www.cdc.gov/ std/
treatment/ 2010/ urethritis-and-cervicitis.htm.
the rst dose directly observed to maximize medication adherence. 1 Cervicitis www.emedicine.medscape.com/ article/ 253402.
REFERENCES
severe PID.
1. Centers for Disease Control and Prevention. Sexually Transmitted
Diseases (STDs) 2010: Diseases Characterized by Urethritis and Cervicitis.
PREVENTIO N http://
2. Centers for Disease Control and Prevention. Sexually Transmitted

STDs and that ways of avoiding infection include mutual monogamy Disease Surveillance, 2009— Chlamydia. http:// www.cdc.gov/ std/
and appropriate barrier protection.
3. World Health Organization. Chlamydia Trachomatis. Initiative
PRO GNO SIS for Vaccine Research. http:// www.who.int/ vaccine_research/
// www.cdc.
gov/ std/ Chlamydia/ STDFact-Chlamydia.htm, accessed
sexual partners or acquisition from a new partner.
Chlamydia trachomatis infection. Am Fam
Physician.
FO LLO W-UP
-
19 in the United States. Pediatrics

is not recommended for persons treated with the recommended or
alterative regimens, unless therapeutic compliance is in question, 7. Schillinger JA, Dunne EF, Chapin JB, et al. Prevalence of Chla-
symptoms persist, or reinfection is suspected. However, test of
cure is recommended in pregnant women. 1 If chlamydia is detected Sex Transm Dis
during the rst trimester, repeat testing for reinfection should also -
be performed within three to six months, or in the third trimester. 1 Am Fam
Physician
If this is not possible, clinicians should retest the patient to screen
for reinfection when he or she next presents for medical care
within 12 months after treatment. 1 review. Trop Med Int Health
PATIENT EDUCATIO N lactobacillus species, cervical Chlamydia trachomatis, and bacterial

vaginosis to preterm birth. Obstet Gynecol.
Chlamydia should
be instructed to abstain from sexual intercourse for 7 days after evidence of past infection with Chlamydia trachomatis, in relation
single-dose therapy or until completion of a 7-day regimen. to ovarian cancer. J Infect Dis.
instructed to abstain from sexual intercourse until all of their sex Chlamydia
partners are treated. 1 Ann Intern Med
PART 12
-
urine screening for Neisseria gonorrheae and Chlamydia trachomatis cation tests for diagnosis of Neisseria gonorrhoeae and Chlamydia
in adolescents at an urban emergency department. Sex Transm Dis. trachomatis rectal infections. J Clin Microbiol
-
cation tests for diagnosis of Neisseria gonorrhoeae oropharyngeal
health care and STD services use among high-risk youth in infections. J Clin Microbiol
Denver participating in community-based urine Chlamydia
screening. Sex Transm Dis. Chlamydia trachomatis and Neisseria gonorrhoeae
15. Doshi JS, Power J, Allen E. Acceptability of chlamydia screening American women by testing SurePath liquid-based Pap specimens
using self-taken vaginal swabs. Int J STD AIDS J Clin Microbiol
Chlamydia genital chlamydial infections: A meta-analysis of randomized

trachomatis and Neisseria gonorrhoeae. Ann Intern Med clinical trials. Sex Transm Dis
PART 12
494 CHAPTER 80
80 BREAST MASSES very well.There is concern that her left reconstruction may need to be
revised in the future as her other breast will mature appropriately for
IN ADO LESCENTS her age. This will need to be followed into adulthood.
Kathe rine B. Le e , MD
INTRO DUCTIO N
PATIENT STO RY Breast masses in female adolescents can range from normal breast
tissue to cysts to broadenomas to malignancies. The most common
cause of breast masses in adolescent girls is a broadenoma, which is a
A 13-year-old girl is brought to her pediatrician by her mother
benign, well circumscribed lesion composed of abundant stromal and
because of a left breast mass, which she has noted for the past month.
epithelial components. Despite the benign nature of broadenomas,
The lump has been very painful and “changed” in color (Figure 80-1).
accurate diagnosis and management will help alleviate signi cant fears
Her mother is concerned about the size of the lump, having seen it
that are associated with these lesions.
only three days prior to her visit. The patient reached menarche at age
12 years and is not taking any medications. She has never been preg-
nant. The diagnosis of giant broadenoma was suspected and the girl
is referred to a breast surgeon. Given the size of the lesion, and severe
EPIDEMIO LO GY
asymmetry, it was advised that she have an excision of this mass with
reconstruction to achieve a better cosmetic result. She underwent
surgical excision of the mass, which con rmed a giant broadenoma. girls. 1,2
After the procedure, her breasts appeared symmetrical and she healed
incidence in the second and third decades of life.
although the exact prevalence is not known. 2
growth during puberty (Figure 80-2). Knowledge of normal

development is important in the diagnosis of breast masses in
adolescents.
are lled with numerous cells.
A between estrogen and progesterone.
risk of developing breast cancer; however, it is important to note
reason, broadenomas are usually followed to assure stability over

time. Growth beyond 5 cm is consistent with a giant broadenoma.
enlarge during pregnancy or prior to the menses.
RISK FACTO RS
-
mas are the most common causes of breast lesions in adolescents.
B more in the future.

FIGURE 80-1 Giant broad enoma in a 13-year-old g irl on frontal (A) and
sid e vie w (B). (Use d with p e rmission from Kathe rine B. Le e , MD.) clear. 3–5
PART 12
BREAST MASSES IN ADO LESCENTS 495
FIGURE 80-2 Tanne r stag ing of b re ast d e ve lop me nt. (Use d with p e rmission from Gre yd anus DE, Pratt HD. Ad ole sce nt g rowth and d e ve lop me nt,
and sp ort p articip ation. In: Pate l DR, Gre yd anus DE, Bake r RJ, e d s. Pe d iatric Practice : Sp orts Me d icine . Ne w York, NY: McGraw-Hill; 2009:18.
www.acce ssp e d iatrics.com).
DISTRIBUTIO N
DIAGNO SIS
outer quadrant of the breast.
A careful history and physical examination is the rst step in the
diagnosis of breast lesions in adolescents. Most often, observation of
the mass for one to two menstrual cycles will aid in the diagnosis and LABO RATO RY TESTING
help rule out more serious causes. In equivocal cases, ultrasonography
and/ or needle aspiration are helpful. making the diagnosis is to sample the lesion via excision or
core biopsy.
CLINICAL FEATURES
IMAGING
diameter (as in the patient in the vignette).
from solid masses if the lesion persists for more than two menstrual
are well circumscribed. cycles.
Figure 80-3).
show a well circumscribed hypoechoic mass. 6,7
PART 12
496 CHAPTER 80
FIGURE 80-3 A. Fib road e noma in a te e nag e g irl p re se nting with sig ni cant
chang e in the le ft b re ast contour. B. Fib road e noma re move d throug h a p e ri-
are olar incision. C. He aling b re ast with normal b re ast conto ur. (Use d with
C p e rmission from Dr. N. Jithe nd ran and http :// b re astsurg e rie s.b log sp ot.
in/2012/05/ b road e noma-e xcision-minimal-scarring .html )
amount of glandular tissue in adolescents, which makes interpretation weeks to months.

of the study dif cult. 8 -
press or replace normal breast tissue. Dilated super cial veins often
DIFFERENTIAL DIAGNO SIS visible (Figure 80-1).
and/ or purulent nipple discharge (Figures 80-4 and 80-5).

for an abnormality on examination. It is important to not
confuse normal breast bud tissue for an abnormal mass but capable of a wide range of biologic behavior. A biopsy (tissue)
is needed to de nitely differentiate from broadenoma.
PART 12
BREAST MASSES IN ADO LESCENTS 497
appropriate. If the lesion persists over this time period, an ultra-

sound can be obtained, and if completely consistent with broade-
noma, can be observed without biopsy unless there are extenuating
concerns.
SURGERY
although this is rarely required in adolescents.
hard, enlarging, associated with skin changes, or those associated

with signi cant anxiety for the patients and their parents. SO R
severe asymmetry, compression of normal breast tissue and to rule

out l tumors. 1,8,11 SO R
FIGURE 80-4 Bre ast ab sce ss with surround ing ce llulitis. (Use d with REFERRAL
with plastic surgery (Figure 80-3).

-
terized by a rm irregular mass that does not change with menstrual -
cycle. enoma, but a core biopsy is advised if there is question as to the
diagnosis or if there is a concern for a phyllodes tumor.
MANAGEMENT
diagnosis.
conservative, observing and watching diligently as opposed to PRO GNO SIS

surgical excision. 8
most common approach if the history is typical for brocystic resolve completely. 12
changes or a broadenoma.
excision is achieved.
with broadenomas can be observed.
FO LLO W-UP
broadenomas in adolescents.
PATIENT EDUCATIO N
important.
PATIENT RESO URCES

http:// www.cancer.org/ healthy/ ndcancerearly/
womenshealth/ non-cancerousbreastconditions/
non-cancerous-breast-conditions- broadenomas.
FIGURE 80-5 Postp artum mastitis with massive swe lling of the overview.
involve d b re ast. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 12
498 CHAPTER 80
REFERENCES
detection and diagnosis. Radiology
and adolescents. Prim Care. -
J Pediatr Adolesc Gynecol
adolescent patient. Obstet Gynecol Clin North Am
biopsy always necessary? Clin Radiol.
breast disease. Am J Epidemiol.
Curr Opin Obstet Gynecol
breast disease. Arch Intern Med. -
lodes tumors of the breast. Ultrasound Obstet Gynecol
JAMA
-
sonographic appearance. Radiology cent. Obstet Gynecol
CO MPLICATIO NS O F TATTO O S AND PIERCINGS
CO MPLICATIO NS O F
TATTO O S AND
PIERCINGS
Ed ward A. Jackson, MD
A teenager presents with itching and swelling along the area of a

recent tattoo on the lower leg. She notes that the area has become
swollen and is itching and draining (Figure 81-1). On examination
A
there is swelling over the areas of red dye usage. The pediatrician rec-
ognized this as an allergy to the red dye and noted that there were
signs of excoriations and some crusting. This was secondary to the
scratching that broke the skin and allowed for a secondary infection
to begin. The physician treated the secondary infection with oral
cephalexin and referred the patient to dermatology for consideration
of intralesional steroid treatment of the red dye allergy.
A teenager presents with a tender red lump around an embedded
neck piercing (Figure 81-2A). The physician notes that there is a
granuloma around the piercing site on the left. The patient requests
removal of this piercing which is performed in the of ce. Four
months later a new granuloma forms around the piercing on the right
neck (Figure 81-2B). The patient requests removal of the second
piercing and acknowledges that it is not a good idea for her to get any
additional piercings.
A.
Tattoos and piercings in both the adult and adolescent populations B.
have become more commonplace. The complications of both have
Use d with p e rmission from Richard P. Usatine MD
increased as the popularity of body art grows.
Tattoos and piercings are also called body art.

Dye, pigment, and ink are all interchangeable when referring to
the color used in tattoos.
practiced worldwide since the beginning of history.
percentage of adults with one or more tattoos at about 21 to

25 percent in 2012. 1
Use d with p e rmission from Jonathan
Karne s, MD as an expression of uniqueness. 2
Lo cat io n Time t o He al
Use d with p e rmission from

Ed ward A. Jackson, MD
(Figures 81-1 and 81-5), but reactions to other colors do occur.

Complications result from permanent tattooing or piercing dependent
on the location of the body, the healing time and the type of body art
with erythema, scaling and pruritus (Figure 81-7; see Chapter 131,
Contact Dermatitis).
barrier, there are increased risks for infections and bleeding. Further
complications for piercings include an increased risk for local trauma,
tearing of the skin and mucous membranes, keloid formation, and site-
speci c piercing complications. Delayed wound healing is also a prob-
lem with piercings and may complicate the body art. 4 Healing times
for piercings vary by body location and are shown in Table 81-1.
tattoos and reportedly range from 17 to 69 percent. 5 Genital pierc-

ings are especially prone to infections (Figures 81-3 and 81-4). 7
dyes (pigments) and may include bacterial infections such as

staph species, mycobacterial, 6–8
and fungal. 4
-
ity reaction to the pigment. The red pigment is most likely to
provoke an allergic reaction (Figures 81-1 and 81-5).
delayed healing, allergic reactions to metal of the piercing, (usually

to the nickel component in the jewelry), and keloid formation at
the piercing site (common in ears) (Figure 81-6).
The following complications are described and illustrated with photo-

graphs to help improve early diagnosis and treatment: Use d with p e rmission from Ed ward A. Jackson, MD
around piercings or tattoos are local but systemic symptoms such as

fever may occur (Figure 81-8).
-
tion (Figures 81-2 and 81-5). Sarcoidosis lesions may develop at
sites of tattoos (Figure 150-7).
develop after exposure to sunlight. This occurs most commonly to

yellow tattoo pigment.
-
tized, cut, or pierced. They are usually the color of the surround-
ing skin but can also be erythematous or hyperpigmented. The ear
is very prone to developing keloids including the earlobe and pinna
(Figure 81-6
piercings and the piercings (Figures 81-9 and 81-10).

-
rounding skin such as the earlobe (Figure 81-11).
grows tired of such body art, they are left with anatomic distortions
that can only be repaired with plastic surgery.
~ Nipple piercings can result in disrupted milk ducts (Figure 81-12).

While milk production is not a concern of adolescent males, and
nipple piercing can be torn from the site resulting in pain and
Use d with p e rmission anatomic distortion (Figure 81-13).
from Jonathan Karne s, MD
A.
B.
continue d
Continue d C.
Use d with p e rmission from Richard P. Usatine , MD
can lead to a urethral rupture (Figure 81-14).
remove the piercing (Figure 81-15).

- Use d with p e rmission fro m Richard P. Usatine , MD
Use d with p e rmission from Richard P. Use d with p e rmission from Richard P. Usatine ,
Usatine , MD MD
A
A. B.
Use d with p e rmission from Richard P. Usatine , MD Use d with p e rmission from Richard P. Usatine , MD
or trauma. 7 However, hypertrophic scars can be treated the same -

way that keloids are managed. ondary to the piercing (Figure 81-8).
selection of antibiotics should cover Staphylococcus aureus and Strep-

tococcus pyogenes
should be done in those areas that demonstrate high rates of resis-
tance or when the infection is more of an abscess with surrounding
topical steroid or intralesional injections of 5 mg/ mL of triamcino- cellulitis rather than a super cial impetiginization.
-
repeated for adequate results.
mended to leave the piercing in place during the treatment in order
to prevent closure of the site. This may also help in drainage and
stop an abscess from forming. 7 A local infection may be managed
a mid-potency topical steroid will be needed for treatment success. with good skin cleansers or a topical antibiotic such as mupirocin
- cream. Avoid ointments as that may delay healing due to their
mal steroid injections using 10 to 40 mg/ mL of triamcinolone. occlusive nature. 8
vials of pigment were used for tattoos. A viral hepatitis is suspected

standard evaluation including liver function tests and hepatitis
serologies should be performed.
SURGERY
removed the area may be anesthetized and the piercing may be

surgically excised (Figure 81-15).
need to be excised (Figure 81-2).
surgery may be considered.

-
thral rupture may require consultation with urology to repair the
damage.
disrupt the pigment particles and enable the macrophages to

Use d with p e rmission remove the smaller particles. However, this is expensive and may
from Ed ward A. Jackson, MD not totally remove the pigment or increase the risk of subsequent
scarring. Since 2007, newer inks have been marketed with micro-
encapsulated biocompatible pigments which can be absorbed by the discolor the jewelry inserted and are not better than soap and
body when the capsule is ruptured by laser treatment. water.
REFERRALS
other surgical removals.

during sex to protect the healing wound from the secretions of a
sexual partner.
-
matologist or another physician trained in the use of cosmetic laser alcohol free rinse.
tattoo removal.
PATIENT RESO URCES
diagnosed with viral hepatitis.
www.safepiercing.org.

piercings would to consider not having permanent ones placed in article/ 1124433.
tattoo. Alternatives to permanent tattoos include temporary tat- www.safepiercing.org.
piercings that may be held in place by a magnet to secure the

jewelry. REFERENCES
recognition by the association. This means that the piercer has
blood-borne pathogens, and uses an autoclave with spore testing of uniqueness. Body Image. 2011;8(3):245-250.
for sterilization. 8
art: what’s your perception? Nursing. 2012;42(6):62-64.
needles is the use of new vials of pigment for each client. The use and perils. Adolesc Med. 2011;022:97-118.
of an opened bottle of pigment can result in spread of hepatitis
from one client to another. Clients should insist on seeing brand- (body piercing and tattooing) in university undergraduates and inci-
new bottles of pigments opened for their tattoos. dence of medical complications. Mayo Clin Proc. 2002;77:29-34.
The Hidden Dangers
complications of infection. of Getting Inked. http:// blogs.cdc.gov/ publichealthmatters/
2012/ 08/ the-hidden-dangers-of-getting-inked/ , accessed
Adolesc MedClin. 2006;17(3):505-519.

8
Aftercare recommendations for tattoos and piercings include:
8. Website of association of professional piercers. http:// www.
safepiercing.org.
PART 13
MUSCULO SKELETAL
PRO BLEMS
St re ng t h o f
(SO R) De nit io n

PART 13
508 CHAPTER 82
MUSCULO SKELETAL PRO BLEMS
82 NURSEMAID’S ELBO W arm. The child classically holds the affected elbow close to the body
and mildly exed with pronation of the forearm. The diagnosis is
Paula Sab e lla, MD made clinically. The radial head subluxation is usually able to be
quickly and easily reduced in the of ce or emergency department.
A healthy 2-year-old female is brought to the emergency department Radial head subluxation; temper tantrum elbow; annular ligament
because she is not using her left arm. The patient was holding her displacement; pulled elbow.
father’s hand while walking when she tripped. To prevent her from
falling, her father held onto the patient’s left hand and pulled her up
as she tripped. The patient cried immediately and then she calmed. EPIDEMIO LO GY
She did not seem to be in pain, but she would not move or use her
left arm. She held her left arm close to her side with her elbow -
slightly bent and her palm turned toward her body (Figure 82-1). dence between 2 and 3 years of age. 1–4
Father denies bruising, swelling, fevers, other injury, or recent ill- 2,4
nesses. She was diagnosed with nursemaid’s elbow, which was suc- 1,2,4
cessfully reduced in the emergency department and she regained full
use of her arm immediately.
INTRO DUCTIO N
Nursemaid’s elbow is a very common injury in preschool aged chil- traction to a child’s pronated forearm or upper extremity. 2 This
dren. It usually results from a pull to the arm or wrist of a child caus- usually involves a pulling or tugging motion to the upper extremity.
ing displacement of the annular ligament of the elbow and sublux-
ation of the radial head. This results in pain and refusal to use the shifts proximally over the radial head and becomes caught in the
radiohumeral joint (Figure 82-2). 2,3 This causes pain and refusal to
use the affected arm.
type of injury is not reported.
Norma l Dis pla ce d

FIGURE 82-2 Drawing of a normal and a d isp lace d annular lig ame nt.
FIGURE 82-1 Typ ical p osture of a child with nurse maid ’s e lb ow. Note Axial traction or tug g ing to the fore arm allows the annular lig ame nt to
how the affe cte d le ft arm is he ld ne xt to the b od y with the e lb ow shift p roximally ove r the rad ial he ad and re main caug ht in the rad io-
slig htly b e nt and the fore arm p ronate d . (Use d with p e rmission from hume ral joint. (Re p rinte d with p e rmission, Cle ve land Clinic Ce nte r for
Paula Sab e lla, MD.) Me d ical Art & Photog rap hy © 2013. All Rig hts Re se rve d .)
PART 13
NURSEMAID’S ELBO W 509
elbow include: DIFFERENTIAL DIAGNO SIS

~ Swinging a child while holding the wrists or hands.
~ Fractures (supracondylar, radial, ulnar, clavicular) and dislocations

~ Catching a child by the hand to prevent a fall. of the arm are usually differentiated from nursemaids elbow by the
~ A child holding onto something to prevent a fall. history of trauma and the presence of pain, distress, point tenderness,
~ An infant rolling over in bed. swelling, bruising, or deformity on physical examination.
~ Minor trauma to the elbow.
MANAGEMENT
RISK FACTO RS
NO NPHARMACO LO GIC
1,2,4
2,4 attempted when the clinical presentation and physical exam are
1–4 consistent with nursemaid’s elbow. SO R
supination- exion.
risk for recurrence. 2,4
patient seated on the parent’s lap facing the examiner. The exam-
DIAGNO SIS iner should be positioned at a similar height to the patient and fac-
ing the patient.
in making the diagnosis, but is not necessary. A history of brief Reduction Methods
crying or pain at the time of the injury may also be reported. ~ Hyperpronation technique—The examiner holds the affected
elbow and applies pressure with a nger over the radial head. The
CLINICAL FEATURES examiner simultaneously holds the patient’s distal forearm/ wrist
- with the other hand and hyperpronates the forearm (Figure 82-3).1
~ Supination/ exion technique—The examiner holds the affected
pected when evaluating a child who refuses to use an upper
extremity, and is observed holding the arm in the classic nurse- elbow and applies pressure with a nger over the radial head.
maid’s position (Figure 82-1). The examiner simultaneously holds the patient’s distal forearm/
wrist with the other hand. In one continuous owing motion, the
elbow slightly exed and the forearm pronated (Figure 82-1). examiner applies mild traction, full supination of the forearm,
and full exion at the elbow (Figure 82-4). 1–3
presentation.
click when the annular ligament relocates back into its normal
position. 2–4 Most children will cry with the reduction and then
be thoroughly visualized, palpated and evaluated. Children calm with family.
with nursemaid’s elbow do not have bruising, swelling,
deformity, or other clinical evidence of injury or neurovascular
compromise. of successful reduction.
There is typically pain with attempts at supination. to reach for objects to use the arm (Figure 82-5).
DISTRIBUTIO N nursemaid’s elbow and of a successful reduction. The patient may

immediately resume normal activity.
-
cern of wrist or shoulder injury due to the appearance of the child
not using the affected arm. if the child is still not using the arm after several failed reduction
attempts.
IMAGING
or en route to the hospital.
Nursemaid’s elbow is a clinical diagnosis.
nursemaid’s elbow, radiographs should be obtained. REFERRAL
failed reduction attempts. with normal radiographs who is still not using the arm after failed
PART 13
510 CHAPTER 82
A
A B
FIGURE 82-3 Hyp e rp ronation Re d uction me thod . (A) The e xamine r rmly hold s the affe cte d e lb ow with one hand and (B) hyp e rp ronate s the
fore arm with the othe r hand . (Use d with p e rmissio n from Paula Sab e lla, MD.)
A B
FIGURE 82-4 Sup ination-Fle xion Re d uction me thod . (A) The e xamine r
rmly hold s the affe cte d e lb ow with one hand . In one continuous
motion, the e xamine r ap p lie s g e ntle d istal tractio n with the othe r
C hand , (B) sup inate s the fore arm, and (C) the n fully e xe s the e lb ow.
(Use d with p e rmission from Paula Sab e lla, MD.)
PART 13
NURSEMAID’S ELBO W 511
A B
FIGURE 82-5 Succe ssful re d uction of nurse maid ’s e lb ow re sults in normal use of the arm (A, B).
(Use d with p e rmission from Paula Sab e lla, MD.)
reduction attempts. A sling or splint should be applied to the

affected arm. of reduction at the time the diagnosis is made.
PATIENT RESO URCES
PREVENTIO N AND SCREENING www.nlm.nih.gov/ medlineplus/ ency/ article/ 000983.htm.
conditions/ orthopedic/ Pages/ Nursemaids-Elbow.aspx.
axillae.
arms of the child. www.accesspediatrics.com/ videoplayer.aspx?aid=
8146001.
PRO GNO SIS

REFERENCES
exion to hyperpronation in the reduction of radial head sublux-

ations. Pediatrics
FO LLO W-UP
of 87 episodes. Ann Emerg Med
Textbook of Pediatric Emergency Medicine.
using the arm.
PATIENT EDUCATIO N head subluxation. Am J Dis Child
with radial head subluxations. J Emerg Med

axillae.
associated with clinically suspected radial head subluxations. Pediatr
arms of the child. Emerg Care
PART 13
512 CHAPTER 83
83 CLAVICULAR FRACTURE
Emily Gale Scott, MD
PATIENT STO RY
A 15-year-old girl slipped on the ice and landed directly on her lat-
eral shoulder. She had immediate pain and swelling in the middle of
her clavicle. Her parents took her to the emergency room and a
radiograph con rmed a displaced mid-clavicular fracture with con-
siderable overlap (Figure 83-1). She was placed in a sling and saw FIGURE 83 -2 He aling callo us afte r a mid shaft clavicular fracture in
the 15-ye ar-o ld g irl in Fig ure 83-1 . (Use d with p e rmissio n fro m Emily
her primary care physician the next day. In consultation with a sports Sco tt, MD.)
medicine expert, she, her family, and her primary care physician
decided on conservative treatment. A follow-up radiograph 4 months
later demonstrated good healing. The bump on her clavicle is still
palpable; but this does not bother her (Figure 83-2).
INTRO DUCTIO N
Clavicular fractures are common and are most often caused

by accidental trauma. The clavicle most commonly fractures
in the midshaft (Figures 83-3), but can also fracture distally
(Figure 83-4). Most fractures can be treated conservatively.
Refer patients with signi cant displacement or distal fractures for
surgical evaluation.
EPIDEMIO LO GY
Accounts for 10 to 15 percent of fractures in children; 90 percent are A

midshaft fractures. 1
FIGURE 83 -3 A. Mid shaft clavicular fracture with mild ang ulation

b ut not ove rrid ing in 8-ye ar-old child . Mid shaft clavicular fracture with
o ve rlap in an 11-ye ar-old child . B. Usually the p ro ximal frag me nt is
FIGURE 83-1 Mid shaft clavicular fracture in a 15-ye ar-old g irl who d isp lace d sup e riorly from the p ull of the ste rnocle id omastoid muscle .
slip p e d on the ice . (Use d with p e rmissio n from Emily Scott, MD.) (Use d with p e rmission from Emily Scott, MD.)
PART 13
CLAVICULAR FRACTURE 513
TABLE 83-1 Typ ical Distrib ution/Classi cation
Gro up Fract ure Rad io g rap hic

(Ap p ro x. %) Lo cat io n Ap p e arance
Gro up I (80%) Mid d le third Up ward d isp lace me nt
(Fig ure 83-3)
Gro up II (15%) Distal third Me d ial sid e of frag me nt
is d isp lace d up ward
(Fig ure 83-4)
Typ e I Minimal d isp lace me nt
Typ e II Fracture me d ial to
coracoclavicular lig a-
me nts; some ove rlap -
p ing of frag me nts
FIGURE 83-4 Rig ht d istal clavicular fracture in an 8-ye ar-old b oy afte r Typ e III Fracture at the articular
he fe ll off the top b unk. (Use d with p e rmission from Emily Scott, MD.) surface of the acro-
mioclavicular (AC)
ETIO LO GY AND PATHO PHYSIO LO GY joint; can look like
AC se p aration
Gro up III (5%) Me d ial third Me d ial sid e of frag me nt
from fall against the shoulder as result of a direct blow to the clavi- up ; d istal sid e d own;
cle or can be fall on an outstretched hand. 2 However, stress frac- hig he r risk of me d ias-
tures in gymnasts and divers have been reported. tinal injurie s
-
monly breech presentations.
common mechanism. 3 bony cancers or metastases, or radiation.
need to be considered (Figure 83-5).
see Table 83-1.
DIAGNO SIS
CLINICAL FEATURES
fractures (i.e., fall on an outstretched hand or lateral shoulder, or

direct blow).
their head and often will present as having trouble getting shirts on
and getting into buckled car seats.
IMAGING
FIGURE 83-5 Healing left clavicular fracture in a 6-month-old infant show-

ing callous formation. This fracture was d iscove re d on rad io g rap hic the shoulder or a direct blow, pain with overhead movement, ten-
screening for physical abuse. (Used with permission from Emily Scott, MD.)
PART 13
514 CHAPTER 83
FIGURE 83-6 Ste rnoclavicular d islocation of rig ht clavicle in a 15-ye ar-

old b oy who was wre stling and took a kne e to the che st. Plain x-ray (A)
and 3D re construction vie w (B). This re q uire d surg ical re p air. (Use d with
-
der pain exacerbated by arm movement or when lying down, and a
prominence from the superomedial displacement of the clavicle
(uncommon; Figure 83-6).
B
clavicle from failure of the central part of the clavicle to ossify
(extremely rare). FIGURE 83-7 An ove rrid ing clavicular fracture with mod e rate d is-
p lace me nt (A), in a 15-ye ar-old hocke y p laye r, re q uiring surg ical p lating
(B). (Use d with p e rmission from Emily Scott, MD.)
MANAGEMENT
midshaft fractures in the adolescent populations (Figure 83-7). 5
REFERRAL
be indicated at the time of evaluation and potentially the rst few days.
- 1
graph (Table 83-1).
TREATMENT fractures in patients with a distal clavicle fracture. These fractures

have a high rate of nonunion; however, only a portion of nonunions
are painful or inhibit function. If the patient continues to have a symp-
plates is sometimes required. tomatic nonunion after many months, surgery may be considered.
immobilization gure of eight splints for young children and slings PRO GNO SIS
for older patients. 1
-
placement and several inches of overlap. 1 without surgery in most cases.
fractures, multitrauma patients and shortened fractures in adoles- cases. Return to activities may be shortened from 16 to 12 weeks
cent population. 4 with operative intervention. 5
PART 13
CLAVICULAR FRACTURE 515

FO LLO W-UP
www.wheelessonline.
com/ ortho/ clavicular_fractures_in_children.
any lost function has returned, and there is radiographic evidence www.orthobullets.com/ pediatrics/ 4123/ medial-
of healing. clavicle-physeal-fractures.
clavicle has healed. If there is no evidence of healing after 2 to

3 months, referral should be considered.
REFERENCES
PATIENT EDUCATIO N children: a review of 21 years. J Pediatr Orthop. 2002;22:736-739.

-
Most clavicle fractures heal without surgery, especially if the fracture is
gical versus conservative interventions for treating fractures of the
middle third of the clavicle. Cochrane Database of Systematic Reviews.
2013;6.
which is underlying bone callous. The callous usually does not does not
interfere with any activities but can start forming in the rst few days and
last for months, which is important to communicate with the families. treatment of clavicle fractures in preschool children presenting to an
emergency department. Pediatr Emerg Care. 2009;25(11):744-747.
PATIENT RESO URCES 4. Caird MS. Clavicle shaft fractures: are children little adults. J Pediatr
- Orthop. 2012;32(1):S1-4.
tion handout under Broken Collarbone www.orthoinfo.aaos
.org/ topic.cfm?topic=A00072. versus nonoperative treatment of midshaft clavicle fractures in ad-
olescents. J Pediatr Orthop. 2010;92(6):811.
PART 13
516 CHAPTER 84
84 FO REARM FRACTURES SYNO NYMS (TYPES O F FRACTURES)

Emily Gale Scott, MD
Physeal fractures (growth plate injuries), Buckle (Torus),
Greenstick fractures can occur in the forearm. Galeazzi and
Monteggia fractures are more rare forearm fractures, but important
to recognize.
PATIENT STO RY
EPIDEMIO LO GY
A 5-year-old boy fell off his bicycle and had immediate pain and
swelling of his right wrist. He continued to complain of pain and
could not use his right arm because of severe pain. In the emergency fracture (37%) in children under the age of 6 years. 1
department a radiograph was obtained which showed a Buckle Figure 84-2) accounted for 25 to
(Torus) right radius fracture (Figure 84-1). He was treated by 30 percent of fractures in children ages 2 to 14. 2,3
immobilization with a short arm cast for 3 weeks and had an 4
excellent recovery.
4
INTRO DUCTIO N
Distal radius and forearm fractures are common in children and
adolescents. Patients typically present after falling on an out-
-
stretched arm. The diagnosis is con rmed by radiographs. Treat-
ment), down stairs, or while running, biking, or skating on an
ment in the pediatric population is usually non-operative with
outstretched arm.
prolonged immobilization but can require operative care depending
on the type of fracture, degree of displacement and the age of the
patient. to be from increase physical activity concurrent with transient
A B C
FIGURE 84-1 Buckle fracture (Torus) of the d istal rad ius on AP (A), late ral (B), and ob liq ue (C) fore arm x-ray vie ws. This 5-ye ar-old b oy
fe ll off his b icycle . (Use d with p e rmission from Emily Scott, MD.)
PART 13
FO REARM FRACTURES 517
RISK FACTO RS
DIAGNO SIS
Diagnosis is suspected by a compatible history such as falling, physi-

cal ndings of trauma and con rmed by radiographs (two or three
views). In regard to radiographs, more than one view is essential to
determine the degree of angulation and deformity. Typical radio-
graphs include anterior posterior (AP), lateral and oblique lms
(Figure 84-3). For some speci c injuries it is necessary to image the
elbow because it can often have dislocation or other injuries associ-
ated with forearm fracture.
FIGURE 84-2 Distal rad ius fracture on late ral vie w in a 7-ye ar-old child .
CLINICAL FEATURES
(Use d with p e rmission from Emily Scott, MD.)
accidental injury. External sign of injury and abnormal use of the arm
de cit in cortical bone mass and secondary to an increase in height is present in most cases. However, some children under the age of
that is not accompanied by an adequately increased accrual of bone 6 years do not always manifest these signs. Fifteen percent of children
mineralization. 4 will not have an external sign of injury and 16 percent may use a frac-
- tured arm normally. 1
cially if the history of injury is not plausible and inconsistent with
injury pattern. 5
A B
FIGURE 84-3 Mid shaft rad ial fracture s in a 10-ye ar-old child . Two x-ray vie ws are e sse ntial to
d e te rmine the d e g re e of injury in fore arm fracture s. The fracture is se e n on the AP (A) vie w, b ut
the late ral (B) vie w cle arly d e monstrate s se ve re ang ulation not se e n on the AP vie w. (Use d with
PART 13
518 CHAPTER 84
A B C
FIGURE 84-4 Salte r Harris II p hyse al rad ius fracture of the g rowth p late on AP (A), Late ral (B) vie ws in a 10-ye ar-old child . (C) Classic Salte r-Harris II
fracture of ulna and b uckle fracture of the rad ius in a 13-ye ar-old b oy who fe ll on an outstre tche d arm. (Use d with p e rmission from Emily Scott, MD.)
TYPES O F FRACTURES
through dorsal cortex 2 to 3 cm proximal to the physis with dorsal
angulation of distal fragment after falling on an outstretched hand
children ages 6 to 10 years after falling on an outstretched hand. (Figures 84-6 and 84-7).
Most are Salter-Harris type I or II (Figures 84-4 and 84-5).
dorsal or volar side of the radius or ulna or both. Greenstick frac-
Type I Type II Type III ture of one forearm bone can accompany a complete fracture of the
other forearm bone (Figure 84-8).
caused by a fall on an outstretched hand, severe trauma, or

intentional injury, especially in infants. These usually occur in
the mid-shaft. They often require operative management
(Figure 84-9).
Type IV
with separation of the distal ulnar physis (Salter-Harris type II).
that involves proximal ulna fracture with associated radial head

dislocation. If isolated ulna fracture is present, one needs to
Type V evaluate the elbow for additional injury (Figures 84-10
and 84-11).
FIGURE 84-5 Salte r-Harris classi cation syste m of g rowth p late frac- DIFFERENTIAL DIAGNO SIS
ture s. Typ e I, se p aration of the p hysis; typ e II, fracture throug h the p hy-
sis and ad jace nt me tap hysis; typ e III, fracture throug h the p hysis and
ad jace nt e p ip hysis; typ e IV, fracture throug h the p hysis, ad jace nt me ta-
p hysic and e p ip hysis; typ e V, crush injury of the p hysis. (Use d with p e r-
mission from Pate l DR, Gre yd anus DE, Bake r RJ: Pe d iatric Practice :
Sp orts Me d icine : www.acce ssp e d iatrics.com.) but with normal radiographs.
PART 13
FIGURE 84-6 Distal rad ius Buckle (To rus) fracture on AP

A (A) and late ral (B) vie ws in a 10-ye ar-old child . (Use d with
B
onset and include soft-tissue and bony lesions that can be identi ed
MANAGEMENT
Initial management requires complete exam including neurovascular

and motor components, pain management, and radiographs. Type of
fracture, amount of displacement, and age of child guide management
help guide the management plans for forearm fractures.
PHYSEAL FRACTURES (GRO WTH PLATE INJ URIES)
of ulnar styloid.
present, refer immediately.
FIGURE 84-7 Buckle (Torus) Fracture in a 13-ye ar-old child . (Use d with FIGURE 84-8 Gre e nstick fracture of the rad ius in an 8-ye ar-old child .
p e rmission from Emily Scott, MD.) (Use d with p e rmission from Emily Scott, MD.)
PART 13
520 CHAPTER 84
A B
FIGURE 84-9 Comp le te fracture of the rad ius and ulna in a 14-ye ar-old
C child on AP (A), late ral (B) vie ws. This child re q uire d surg ical p lating (C).
FIGURE 84-10 Monte g g ia fracture in a 9-ye ar-old child . Late ral vie w FIGURE 84-11 Monte g g ia fracture in a 3-ye ar-old child showing a
of the e lb ow and fore arm showing the mid shaft ulnar fracture with mid shaft ulnar fracture with rad ial he ad d islocation. (Use d with p e rmis-
rad ial he ad d islo cation. (Use d with p e rmission from Emily Scott, MD.) sio n from Emily Scott, MD.)
PART 13
TABLE 84-1 Unive rsal Classi cation of Rad ial Fracture s

PRO GNO SIS
Fract ure Classi cat io n Manag e me nt
I Nonarticular, Immob ilization with cast or Most children with distal radial fractures will recover function with
nond isp lace d sp lint 6 for 4 to 6 we e ks appropriate treatment.
II Nonarticular, Re d uction with cast or sp lint
d isp lace d immob ilization; surg ical FO LLO W-UP
manag e me nt if irre d ucib le
or unstab le fracture
III Articular, Immob ilization; p inning if in managing distal radial fractures. 7
nond isp lace d unstab le
IV Articular, d isp lace d Surg ical manag e me nt PATIENT EDUCATIO N
management.
ulnar deviation. 5
such as an orthopaedic surgeon PATIENT RESO URCES

Table 84-1). www.emedicine.medscape.com/ article/
824949-overview.
BUCKLE (TO RUS) FRACTURES www.cdc.gov/
- safechild/ Falls/ index.html.
sion side is intact.
5 PRO VIDER RESO URCES
Wheeless’ Textbook of Orthopaedics has additional information
about the types of distal radius fractures, classi cation systems,
GREENSTICK FRACTURES www.wheelessonline.com/
ortho/ 12591.
cast or splint for 4 weeks. 6 www.posna.org/ education/ StudyGuide/
- fracturesOfShaftOfRadius.asp.
tures as they sometimes require completing the fracture to ade-
quately reduce the fracture and minimize the risk of recurrent
REFERENCES
deformity while in the cast.
Symptoms and time to medical care in children with accidental

CO MPLEX RADIUS AND ULNAR FRACTURES
extremity fractures. Pediatrics
to determine whether closed or open reduction is most factors. BMC Public Health
appropriate.
Hand Clin
PREVENTIO N
JAMA
safety practices to prevent injuries from falls in children.
pediatric_distal_radius_fracture, accessed on Dec 11, 2012.

including helmets and wrist guards.
splinting in children with minimally angulated fractures of the
CMAJ
(e.g., wood chips instead of dirt). 1507-1512.
as staircases and playground equipment. Journ Am Acad Ortho Surg

PART 13
522 CHAPTER 85
85 METATARSAL FRACTURE
PATIENT STO RY S ha ft fra cture
J one s
A 13-year-old boy inverted his ankle while playing basketball in his fra cture
driveway. He felt a pop and had immediate pain. He had tenderness Avuls ion
over the base of his fth metatarsal. Having met the Ottawa ankle fra cture
rules for radiographs (see Management Section), a radiograph was
obtained, which revealed a displaced styloid fracture at the base of the
fth metatarsal (Figure 85-1).
INTRO DUCTIO N FIGURE 85-2 Fracture s of the fth me tatarsal. Avulsions or shaft frac-
ture s are most common in p e d iatrics. The Jone s fracture (me taphyse al–
d iap hyse al junction) is rare in child re n. (Use d with p e rmissio n from
Most metatarsal fractures in children over the age of 5 years involve Strang e GR, Ahre ns WR, Schafe rme ye r RW, Wie b e RA: Pe d iatric e me r-
the fth metatarsal and include avulsion fractures at the base, acute g e ncy Me d icine , 3rd e d ition: http ://www.acce sse me rg e ncyme d icine .
com. Fig ure 38-11, with p e rmission.)
diaphyseal fractures (Jones fracture), and diaphyseal stress fractures
(Figure 85-2). Fractures of the rst through fourth metatarsals are
less common but can be associated with a Lisfranc injury. Children
under the age of 5 years more commonly fracture the rst metatarsal. EPIDEMIO LO GY
Diagnosis is based on the mechanism of injury or type of overuse
activity and radiographic appearance. Treatment depends on the type
of fracture. Most metatarsal fractures have a good prognosis; how- athletes; however, incidence and prevalence in most populations is
ever, Jones fractures have a high rate of nonunion and Lisfranc inju- unknown.
ries can result in chronic symptoms.
metatarsal, generally from a fall from a height. 1
SYNO NYMS metatarsal generally from a fall on a level surface. 1
Avulsion fracture at base of fth metatarsal: fth metatarsal tuberosity

fracture, dancer fracture, pseudo-Jones fracture. ETIO LO GY AND PATHO PHYSIO LO GY
Jones fracture—Acute diaphyseal fracture of the fth metatarsal.
the lateral plantar fascia pull off the base of the fth metatarsal,
typically during an inversion injury while the foot is in plantar
exion.
-
side of the foot with the foot plantar exed.
seen in repetitive trauma in ballet dancing.

-
ties such as jumping and marching.
direct blows or falling forward over a plantar- exed foot. These

fractures may be associated with a Lisfranc injury.
DIAGNO SIS
FIGURE 85-1 Disp lace d styloid fracture at the b ase of the fth me ta-
tarsal. (Use d with p e rmission fro m Pate l DR, Gre yd anus DE, Bake r RJ:
Pe d iatric Practice : Sp orts Me d icine : www.acce ssp e d iatrics.com. The diagnosis of avulsion or Jones fractures is made on plain radio-
Fig ure 28-26, with p e rmission.) graphs in a patient with a history of injury and acute lateral foot pain.
PART 13
METATARSAL FRACTURE 523
Comparative views of the uninjured foot may be helpful. Diaphyseal
CLINICAL FEATURES
-
nation) at the base of the fth metatarsal after forced inversion with Dia s ta s is
the foot and ankle in plantar exion.
-
sal, with dif culty bearing weight on the foot, after a laterally Lis fra nc
directed force on the forefoot during plantar exion of the ankle. fra ctrure -
dis loca tion
motion.
IMAGING
FIGURE 85-4 Illustration of the Lisfranc injury, which is a tarsal–metatarsal
d islocation. This is rare in p e d iatric p atie nts. (Use d with p e rmission
perpendicularly to the metatarsal shaft (Figure 85-1). May extend from Strang e GR, Ahre ns WR, Schafe rme ye r RW, Wie b e RA: Pe d iatric
into joint with cuboid bone, but does not extend into the inter- emergency Medicine, 3rd edition: http://www.accessemergencymedicine.
com. Fig ure 38-12, with p e rmission.)
metatarsal joint.
Figure 85-3) and stress fractures both have
a fracture line through the proximal 1.5 cm of the fth metatarsal DIFFERENTIAL DIAGNO SIS
shaft. These should be classi ed into type I, II, or III:2
~ Type I fractures have a sharp, narrow fracture line, no intramed-
Pain at the fth metatarsal can also be caused by:
ullary sclerosis, and minimal cortical hypertrophy.
~ Type II fractures (delayed unions) have a widened fracture line
with radiolucency, involve both cortices, and have intramedul- Jones fracture but is often seen more distally in the shaft; occurs in
lary sclerosis. patients with no injury and history of overuse (e.g., ballet dancing,
~ Type III fractures (nonunions) have a wide fracture line, perios- marching).
teal new bone and radiolucency, and obliteration of the medul- Figure
lary canal by sclerotic bone. 85-4). This pain is typically in the midfoot and more commonly
medial. May be associated with fractures in the rst through fourth
on CT, MRI, or bone scan. Ultrasound may be a less expensive metatarsals.
option—sensitivity 83 percent, speci city 76 percent, positive pre- x-ray ndings that can be confused with foot fractures include:
dictive value 59 percent and negative predictive value 92 percent
in one small study.3
the fth metatarsal seen in girls, ages 9 to 11 years, and boys, ages
whereas avulsion fractures are perpendicular.
of the cuboid) have smooth edges, whereas avulsion fractures have

rough edges.
MANAGEMENT
Fractures of fth metatarsals in children have been found to be similar

to those in adults. Management is based on adult literature. 4
Apply the Ottawa ankle rules in children over the age of 5 years to
determine which patients with an injury and ankle/ foot pain should
have an x-ray. 5,6 SO R Ottawa rules: x-ray patients who cannot walk
four steps immediately after the injury or who have localized tender-
ness at the posterior edge or tip of either malleolus, the navicular, or
the base of the fth metatarsal. 5
FIGURE 85-3 Jo ne s fracture , a transve rse fracture at the junctio n of -
the d iap hysis and me tap hysis. (Use d with p e rmission from Pate l DR,
Gre yd anus DE, Bake r RJ: Pe d iatric Practice : Sp o rts Me d icine : ing boot with ambulation for 3 to 6 weeks. 7 SO R Refer displaced
www.acce ssp e d iatrics.com. Fig ure 28-25, with p e rmission.) avulsion fractures.
PART 13
524 CHAPTER 85
PATIENT RESO URCES

nonunion caused by the poor blood supply. Type I or II may be
treated with immobilization for at least 6 to 8 weeks. Type II can
www.patient.co.uk/ health/ Metatarsal-Fractures.htm.
athletes or patients needing a faster recovery are often surgically PRO VIDER RESO URCES
treated. 8 SO R
including—www.mdcalc.com/ ottawa-ankle-rules.
painful, partial or non–weight-bearing for 1 to 3 weeks may be
necessary. 9
REFERENCES
Refer patients with:9
A study of metatarsl fractures in children. J Bone Joint Surg AM.
2008;90(4):772-776.
fractures.
2. Lehman RC, Torg JS, Pavlov H, Delee JC. Fractures of the base of
the fth metatarsal distal to the tuberosity: A review. Foot Ankle.
fracture, intraarticular fracture, or Lisfranc injury.
1987;7:245-252.
3. Banal F, Gandjbakhch F, FoltzV, et al. Sensitivity and speci city of
ultrasonography in early diagnosis of metatarsal bone stress fractures:
a pilot study of 37 patients. J Rheumatol. 2009;36(8):1715-1719.
PRO GNO SIS
4. Herrera-Soto JA, Scherb M, Duffy MF, Albright JC. Fractures of
Prognosis in children is thought to be excellent. Metatarsal fractures the fth metatarsal in children and adolescents. J Pediatr Orthop.
in older adolescents and adults have an excellent outcome, with most 2007;27(4):427-431.
patients symptom free at 33 months. Patients with higher body mass 5. Stiell IG, Greenberg GH, Mcknight RD, et al. Decision rules for
index (BMI), diabetes mellitus, women, and a dislocation with the the use of radiography in acute ankle injuries. Re nement and
fracture have less-positive outcomes. 10 prospective validation. JAMA. 1993;269:1127-1132.
6. Dowling S, Spooner CH, LiangY, et al. Accuracy of Ottawa Ankle
Rules to exclude fractures of the ankle and midfoot in children: a
FO LLO W-UP meta-analysis. Acad Emerg Med. 2009;16(4):277-287.
Patients should be followed every 1 to 3 weeks to evaluate for appro- fth metatarsal fractures in an orthopaedic suburban private
priate clinical and radiographic response to treatment. multi-speciality practice. Foot Ankle Int. 2005;26:704-707.
8. Portland G, Kelikian A, Kodros S. Acute surgical management of
PATIENT EDUCATIO N jones’ fractures. Foot Ankle Int. 2003;24:829-833.
9. Hatch RL, Alsobrook JA, Clugston JR. Diagnosis and management
of metatarsal fractures. Am Fam Physician. 2007;76(6):817-826.
but can remain ambulatory. Jones fractures have a poor blood supply -
and often do not reconnect, even with immobilization. Surgery may graphics and outcome of metatarsal fractures. Arch Orthop Trauma
result in a faster return to activities in some cases. Surg. 2011;131(2):241-245.
PART 13
CLUB FEET 525
86 CLUB FEET SYNO NYMS

David S. Eb e ne ze r, MD
Congenital Talipes Equinovarus.
Paul M. Saluan, MD
EPIDEMIO LO GY
PATIENT STO RY 3
A 4-day-old baby boy is brought to the pediatrician’s office for

1,3
their first visit after birth. The pregnancy was full-term and
uneventful, except for that the baby was a breech birth. The
baby’s mother has noticed that although both legs and feet appear 4
a little “curved,” both feet are almost “sideways” and look abnormal
(Figure 86-1). On examination of both feet the hindfoot is
clearly inverted, the toes point medially, and the foot is plantar ETIO LO GY AND PATHO PHYSIO LO GY
flexed. The deformity is somewhat correctible by forcing the foot
into a more normal position, but not completely. The baby does
not appear to be in pain. He has no other abnormalities, has a very descriptive but complicated orthopaedic terminology is associ-
normal neurologic exam for his age, and appears to be otherwise ated with understanding the normal and abnormal relationships
healthy. The child is referred to a pediatric orthopaedic surgeon, within the foot. However, this knowledge becomes useful in deci-
who begins serial Ponseti casting within one to two weeks. After phering and communicating how to correct the deformity.
several weeks of weekly serial casting, the feet have a more normal -
appearance. The child is then splinted full-time using a special
orthosis for approximately three months, after which he is only ~ Cavus (a deformity describing a higher or cavitary arch of the foot).
splinted at night until walking age, at which time splinting is ~ Adductus of the forefoot (the rays of the toes abnormally point
discontinued. He has no residual deformity. medially).
~
medially if looked at from behind the patient).

INTRO DUCTIO N ~ Equinus (the foot is relatively plantar exed, usually with a tight
Achilles tendon).
Clubfeet is one of the most common congenital abnormalities of
the lower extremities. 1 As with any congenital deformity, it can (a combination of inversion and adduction).
be very concerning to new parents. However, the current gold
standard of early non-operative treatment, with surgery only if rigid. 1
needed later in life, has led to generally excellent functional 1
results long-term. 2 ~ Genetic factors.
~ Environmental exposure, for example, cigarette smoke.
~
~ Abnormal function of the neuromuscular unit.

~ Late-term in utero positioning was historically thought to be a
role in the development of clubfoot.
DIAGNO SIS
CLINICAL FEATURES
FIGURE 86-1 Bilate ral club fe e t in an infant. Note the d e e p e ne d me d ial examination showing foot equinus with some degree of cavus,
cre ase (Use d with p e rmission from David Gurd , MD.) varus, and adductus. 6
PART 13
526 CHAPTER 86
-
cal planning if and when intervention is considered.
diagnosis.
~ The involved side tends to have a single heel crease, versus multiple therefore a full neurologic examination as well as assessment of all
on the uninvolved side. 6 3,6
~ The depth of the medial skin crease indicates the severity of the
deformity.
severity and track progress of treatment.

external rotation of the hips, internal rotation of the tibia, and
variable foot position, the combination of which can present with
IMAGING complaints such as “bowed legs” and possibly a foot deformity.
- on their own as the child grows.
interpret. of the component deformities of clubfoot, but can be an isolated

~ As the bones ossify, classic changes seen include parallelism of
entity of its own. 6
the angle made between the long axis of the talus and calcaneus hindfoot.
on AP and lateral radiographs when compared to the normal foot 6
(Figure 86-2).
~
but are not essential. MANAGEMENT
NO NSURGICAL
decade with dramatic results. SO R
~ The Ponseti method of serial casting,

I
7
I Gentle manipulation and casting in a long leg cast (Figure 86-3).

I Casts are changed on a weekly basis.
FIGURE 86-2 Bilate ral club fe e t with associate d rad iog rap hic
ap p e arance . Note the p aralle lism of the talus and calcane us on the FIGURE 86-3 Bilate ral Ponse ti casting using p laste r casts. The casts
rad iog rap hs, typ ical of club fe e t (Use d with p e rmission from Ryan must g o ab ove the kne e as casts b e low the kne e can e asily fall off in
Good win, MD.) infants. (Use d with p e rmission from Ryan Good win, MD.)
PART 13
CLUB FEET 527
FIGURE 86-4 Time -lap se imag e s of se rial Ponse ti casting in club foot. Note the slow and g rad ual corre ction to a normal-ap p e aring foot. (Use d with
p e rmission from Ryan Good win, MD.)
for extensive surgical releases and even reduced the overall number
those are corrected is equinus addressed (Figure 86-4). of surgeries for clubfoot. 1,6
I This usually takes between 6 to 8 weeks total.
I - management, and approach surgery in a more limited manner,
les tendon tenotomy is performed if there is still an equinus with more selective releases and or tendon transfers as needed to
deformity, 1 This usually heals with little to no abnormality of supplement nonoperative management. 1
the tendon and no residual weakness, and the foot is casted
for 3 to 4 more weeks.
I
syndromic clubfoot, neurogenic clubfoot, and refractory recurrent
cases. 1,6
removed, the patient is placed in a foot-abduction brace such
1 tissue structures involved, including the Achilles tendon, exor digi-

I This is done 23 hours per day for 3 months, followed by night torum longus tendon, exor hallucis longus tendon, posterior tibal
and nap time wear at least until walking age, although this may tendon, abductor hallucis, plantar fascia, subtalar and calcaneocuboid
be done up to age 4 to prevent recurrence. 1,6 3
~ The French method.
I -
ing, and exercises by a trained physical therapist combined age to address any of these deformities surgically. 3
with adhesive taping to hold the correction achieved with the
therapy. 1,6 correction, or for complications such as wound problems, resultant
I
bony deformity, or overcorrection.
devices into its regimen.
-
otomy and bone realignment if the deformity is rigid and cannot be
methods, with minimal difference in success rates between the solved by soft tissue releases.
two, although Ponseti appears to be much more widely used
older (Figures 86-5 and 86-6) may require more heroic efforts,
-
tation is very uncommon in developed countries, however.
surgery.
as a triple arthrodesis can be performed.
tendon tenotomy and possibly an anterior tibial tendon transfer to
the lateral cuneiform to achieve lasting correction.
SURGICAL
-
lagen response of connective tissues early in life, has been shown to
lead to scarring, muscle weakness, pain, recurrence of deformity,
damage to neurovascular structures, and overcorrection, and thus immediately for any suspected clubfoot to allow early treatment
should be avoided. 1,3 and ensure the best possible outcome.
PART 13
528 CHAPTER 86
results. 2
FO LLO W-UP
being treated for their serial cast changes, and then for maintenance
of correction once they are in the bracing phase.
mid-late childhood to monitor for late recurrence.
PATIENT EDUCATIO N
limited surgical intervention as needed.
treatment. Late treatment is not as successful.
long-term success.
PATIENT RESO URCES

FIGURE 86-5 A young g irl with untre ate d b ilate ral club fe e t. (Use d with www.ponseti.info.
p e rmission from Kaye Wilkins, MD.)
001228.htm.
PRO GNO SIS conditions/ developmental-disabilities/ Pages/
Congenital-Abnormalities.aspx.
-
www.my.clevelandclinic.org/ orthopaedics-
-
rheumatology/ diseases-conditions/ congenital-
omy or anterior tibial tendon transfer) in some patients, excellent
clubfoot.aspx.

www.accesspediatrics.com/ content.aspx?aid=
7020352# 7020390.
www.accesspediatrics.com/ content.aspx?aid=
56825070# 56825073.
REFERENCES
-
ment. Clin Orthop Relat Res.
year follow up note. J Bone Joint Surg Am.
J Am Acad Orthop Surg.
etiology of talipes equinovarus. Clin Orthop Relat Res.

FIGURE 86-6 Late presentation of untreated clubfoot. Note the classic
development of calluses along the lateral and dorsal aspect of the foot,
re ecting the abnormal areas of the foot the child is forced to walk on due
to the deformity. (Used with permission from Richard Usatine, MD.) clubfoot. J Am Acad Orthop Surg
PART 13
CLUB FEET 529
-
(physiotherapy) method. J Bone Joint Surg Am.
2313-2321.
-
J Pediatr Orthop. minimum 2-year follow up. J Pediatr Orthop B.

PART 13
530 CHAPTER 87
87 DEVELO PMENTAL the harness was discontinued. Her standing x-ray of the hips at one
year was normal.
DYSPLASIA O F THE HIP
Rache l M. Rand all
R. Tracy Ballock, MD
INTRO DUCTIO N
Developmental Dysplasia of the Hip (DDH) is a disorder of acetabular

development leading to a shallow acetabulum (acetabular dysplasia),
PATIENT STO RY which may or may not be associated with an unstable or dislocated
hip joint. 1
A three day old female was brought to her pediatrician for a routine
newborn evaluation. Prenatally, the infant was noted by ultrasound
to be in the frank breech position, and was born via Cesarean sec- SYNO NYMS
tion at 40 weeks of gestation. She is the mother’s rst child. At this
visit, the pediatrician noted that the infant’s left thigh segment was Hip dysplasia, Congenitally dislocated hip.
shorter than the right, and a palpable “clunk” was felt when pres-
sure was applied to lift the greater trochanter and the left hip was
abducted (Figure 87-1). The pediatrician ordered an ultrasound of EPIDEMIO LO GY
the left hip joint, which revealed a dislocated femoral head. The
patient was subsequently placed in a Pavlik harness. After three
months, the hip was completely reduced and stable on exam, and descent.
A B
FIGURE 87-1 Physical e xam mane uve rs for asse ssme nt of De ve lop me ntal Dysp lasia of the Hip (DDH). Note that the infant must b e calm and
re laxe d fo r accurate asse ssme nt of the se sub tle nd ing s. (A) Barlow sig n (Photo). Ge ntle p oste rior p re ssure ove r the kne e , with hip s and kne e s
e xe d to 90 d e g re e s, cause s sub luxation of the fe moral he ad . Gale azzi sig n (Ske tch). With the hip s and kne e s e xe d to 90 d e g re e s, d iscre p ancy of
the le ng th of the thig h se g me nt can b e e valuate d . In DDH, the thig h se g me nt on that sid e may ap p e ar shorte r than the unaffe cte d sid e . (B) O rto-
lani mane uve r. Lifting the g re ate r trochante r up ward s with the hip maximally ab d ucte d cause s the d islocate d fe moral he ad to re duce b ack into the
ace tab ulum. (Ske tche s Ad ap te d and Re p rinte d with p e rmission from Ballock and Richard s, Conte mp orary Pe d iatrics 1997;14:108. Conte mp orary
Pe d iatrics is a cop yrig hte d p ub lication of Ad vanstar Communications Inc. All rig hts re se rve d .)
PART 13
DEVELO PMENTAL DYSPLASIA O F THE HIP 531
in 1000 requires treatment.
acetabulum.
-
and ultimately hip joint instability.
causes of intrauterine crowding.
RISK FACTO RS
FIGURE 87-2 Limite d ab d uction of the affe cte d le ft hip . Tig ht ad d uctor
and iliop soas muscle s are ofte n associate d with DDH in child re n old e r
DIAGNO SIS than 3 months, whe re the fe mur is in a xe d p osition out of socke t.
(Ske tche s Ad ap te d and Re p rinte d with p e rmission from Ballock and
CLINICAL FEATURES Richard s, Conte mp orary Pe d iatrics 1997;14:108. Conte mp orary Pe d iat-
rics is a cop yrig hte d p ublication of Ad vanstar Communications Inc. All
rig hts re se rve d .)
to 90 degrees compared to the unaffected side (Figure 87-1A
may also see asymmetric skin folds, with excessive folds over the DISTRIBUTIO N
affected side due to superior/ posterior dislocation of the femur.
due to the positioning of the left femur against the spinal column in
the most common fetal position (left occiput anterior). 1 However,
90 degrees (Figure 87-1A DDH may affect either side or it may be bilateral.
head out of the acetabulum.
sure applied over the greater trochanter (Figure 87-1B
reduction of a dislocated femoral head.
IMAGING
All infants with breech positioning, a positive family history of DDH,
finding is limited abduction on the affected side due to tighten-

ing of the adductor muscles (Figure 87-2). However, if the
DDH is bilateral, the limited abduction is difficult to appreci-
- -
dling gait, with the unaffected side of the pelvis “dropping” as tion of the degree of hip subluxation or dislocation.
the child bears weight on the affected side, as well as lumbar
hyperlordosis. This is due to weakened abductor muscles on older at initial presentation. Does not show the anatomic detail or
the affected hip. soft tissue structures that ultrasound offers, but can be interpreted
PART 13
532 CHAPTER 87
FIGURE 87-3 X-ray of a p e lvis with a normal R hip and DDH of the le ft
FIGURE 87-4 Arthrog ram of DDH hip . Me d ial d ye p ooling , commonly
hip . Hilg e nre ine r’s line (orang e ), Pe rkin’s line (re d ), and She nton’s line
se e n in DDH, ind icate s sub luxation of the fe moral he ad (solid arrow).
(g re e n) are shown b ilate rally. Note that She nton’s line ap p e ars b roke n
Blunting of the lab rum is also se e n in this arthrog ram (b roke n arrow).
on the DDH sid e . The Ace tab ular ind e x (b lue line and ang le ) is normal
(Use d with p e rmission from R. Tracy Ballock, MD.)
if le ss than 25 to 27 d e g re e s, and d e cre ase s with ag e as the ace tab ular
d e p th incre ase s. Note how the DDH sid e has an Ace tab ular ind e x of
41 d e g re e s. (Use d with p e rmission from R. Tracy Ballock, MD.)
using several helpful lines and angles (Figure 87-3). Hilgenreiner’s ~
line (orange), Perkin’s line (red), and Shenton’s line (green) and diagnosis).
Acetabular index (blue line and angle). ~
relationship to the acetabulum. CO MPLIMENTARY/ ALTERNATIVE THERAPY

~
femoral head is normally located (Figure 87-4). for DDH.

~ Shape of the capsule can be distorted by abnormal iliopsoas com-
pression of the capsule (hourglass sign), or an inverted labrum
from femoral head subluxation (rose thorn sign).
signs of illness.
conditions, such as arthrogryposis and spina bi da.
MANAGEMENT
NO NPHARMACO LO GIC
FIGURE 87-5 Pavlik harne ss for tre atme nt of DDH in infants. The hip s
are he ld in 100-120 d e g re e s of e xion and ab d ucte d to p romote hip
used modality for young infants (Figure 87-5). stab ility. (Use d with p e rmission from R. Tracy Ballock, MD.)
PART 13
DEVELO PMENTAL DYSPLASIA O F THE HIP 533
SURGERY
~ —Salter (Figure 87-6) or Pemberton

osteotomy.
~ —
~ Salvage procedures—Shelf acetabuloplasty, Chiari osteotomy.
-
mal rotation, and shortening to allow for reduction of the hip joint
without excessive stress (Figure 87-6).
REFERRAL
-
cal signs of DDH are evident on physical examination.
A SCREENING
positive family history should be screened with either an ultrasound
dysplasia.
PRO GNO SIS
diagnosed early.
FO LLO W-UP
until skeletal maturity for clinical DDH.
PATIENT AND PRO VIDER RESO URCES

www.orthoinfo.aaos.org/ topic.cfm?topic=a00347.
.
.
.
C
FIGURE 87-6 DDH before and after surgical treatment. X-ray of bilateral
DDH before surgery in a 2-year-old female (A), postoperatively following REFERENCES
Salter innominate osteotomy and femoral shortening osteotomy (B), and
at long-term follow-up at 11-years of age (C). Note the well-formed ace-
-
tabula following the pelvic osteotomy, and concentric reduction of the
femoral heads bilaterally. (Used with permission from R. Tracy Ballock, MD.)
PART 13
534 CHAPTER 87
Detection of Developmental Dysplasia of the Hip. American

Academy of Pediatrics.
difference. Contemporary Pediatrics
LEGG-CALVÉ-PERTHES
LEGG-CALVÉ-PERTHES
Ke ith Bachmann, MD
Ryan C. Good win, MD
Figure 88-1
Initial stag e of Pe rthe s d ise ase showing fe moral he ad

atte ning of the rig ht fe moral he ad in a 7-ye ar-old b oy on AP ( ) and ~
Frog -le g late ral ( ) rad iog rap hs of the p e lvis. (Use d with p e rmission
from Ryan Good win, MD.)
CHAPTER 88
igures 88-1 Figure 88-2
AP Pe lvis rad iog rap h of the same b oy as in

in the frag me ntation stag e , d e monstrating some late ral sub luxation of
the rig ht fe moral he ad (Use d with p e rmission from Ryan Good win, MD.)
LEGG-CALVÉ-PERTHES
Figures 88-5 88-6
AP Pe lvis rad io g rap h of the same b oy as in

and after und e rg oing a p elvic oste otomy to ob tain b e tter cove rag e
and contain the rig ht fe moral he ad . (Use d with p e rmission from Ryan
Good win, MD.)
~ Figures 88-3 88-4

~
A
~
Legg-Calve-Perthes disease of the left femoral head with a

Stulberg IV hip in a 19-year old male. AP ( ) and lateral ( ) pelvis radio-
AP Pelvis radiograph of the same patient as in graph. Note the attening of the head and uncovering of the lateral aspect
to after healing with a nal Stulberg II result. (Used with on the lateral view. This patient required a total hip replacement. (Used
permission from Ryan Goodwin, MD.) with permission from Ryan Goodwin, MD.)
Journal of the American
Academy of Orthopaedic Surgeons
Use d with p e rmission from Ryan Good win,
MD
The Journal of Bone and Joint
Surgery
The Journal of Bone and Joint Surgery
The Journal of the American Academy of Orthopaedic Surgeons
Journal of the American Academy of Orthopaedic

Surgeons
The Journal of Bone and Joint Surgery [Br].
Tachdjian’s Pediatric
Orthopaedics
J Bone Joint Surg [Am]

PART 13
SLIPPED CAPITAL FEMO RAL EPIPHYSIS (SCFE) 539
89 SLIPPED CAPITAL
FEMO RAL EPIPHYSIS
(SCFE)
Joe l Kolmod in, MD
Paul M. Saluan, MD
PATIENT STO RY
A 10-year-old male presents to your of ce with a 1-month history

of left groin pain and intermittent left medial thigh pain as well. His
symptoms are typically worse with activity, and his parents have noted
that he limps. His parents relate that he has had a similar problems in
the past. An x-ray of the left hip shows a slipped capital femoral
epiphysis (Figures 89-1 and 89-2). The patient is made non-weight
bearing, he is immediately admitted to the hospital and Pediatric
Orthopedics is consulted for surgical management.
FIGURE 89-2 Ne w slip p e d cap ital fe moral e p ip hysis of the le ft hip on

AP vie w of the same b oy as in Fig ure 89-1. (Use d with p e rmission from
INTRO DUCTIO N Thomas Kuivila, MD.)
Slipped capital femoral epiphysis (SCFE) is a relatively common

disorder of the adolescent hip. “Skiffy” for short, SCFE is failure of the SYNO NYMS
proximal femoral physis during periods of accelerated growth. This
failure results in discontinuity arising between the head and neck of Slipped upper femoral epiphysis (SUFE).
the femur. The femoral head stays located in the acetabulum, while
the femoral neck migrates superiorly and anteriorly.
EPIDEMIO LO GY
of 10 and 16 years. It occasionally occurs in girls as well—usually

between the ages of 12 and 14 years—but girls are half as likely as
boys to have slips. 1
cases per 100,000 children. 2

and they occur 2 to 4
times more frequently in black and Hispanic children than in white
children. 1,4
slips occur 20 percent of the time, 1

of the rst slip.
Slips tend to occur more frequently in warm months , and there is

a predilection for slips to occur more frequently in the Northeastern
and Western US. 1
FIGURE 89-1 New slipped capital femoral ep ip hysis of the left hip in a local trauma, mechanical factors (physeal weakness during puberty,
10-year-old boy on frog -leg view. Note that the slipped capital femoral
epiphysis of the right hip was xed surgically 18 months prior. (Used with stress from obesity),6,11 endocrine disorders (hypothyroidism, pitu-
p ermission from Thomas Kuivila, MD.) itary de ciency),1 in ammatory conditions, and genetic factors.
PART 13
540 CHAPTER 89
a weak physis that fails to resist displacement when subjected to

sheering stress. Failure occurs in the hypertrophic zone of the
physis. 7
RISK FACTO RS
Though the cause of SCFE is has not been fully elucidated, there are a
and other pituitary axis abnormalities.

FIGURE 89-4 O b lig ate e xte rnal rotation as the hip is e xe d from the
caud al vie w in the same b oy as in Fig ure 89-3. (Use d with p e rmission
DIAGNO SIS from David Gurd , MD.)
CLINICAL FEATURES leg-length discrepancy. Although prior classi cation systems

(based on duration of symptoms and severity of the slip) have been
employed, the most commonly accepted system in use today rec-
ognizes slips as stable or unstable. Stable slips are those in which
pain is thought to be referred pain secondary to irritation of the the patient is still able to bear weight; unstable slips are those that
obturator nerve. prevent any form of ambulation. This classi cation scheme has
implications on prognosis and treatment method. 9

weight, though this is uncommon.
-
normal leg. ratory testing may be indicated if an endocrine etiology is thought
possible.
hip as it is exed (Figures 89-3 and 89-4). There may be a slight
evaluate for hypothyroidism, basic metabolic panel to evaluate for
renal abnormality, and Growth Hormone levels to evaluate for
hypopituitarism, among others.
SCFE, as well as selective pituitary testing for patients who are

short for their age and have hypogonadism. 10
IMAGING
frog-leg lateral views are the most effective ways of observing

subtle slips (Figures 89-1, 89-2, 89-5, and 89-6).
apparent on plain lms.
SCFE.
FIGURE 89-3 This p atie nt has b e en tre ate d for slipp ed cap ital fe moral
e p ip hysis. Note the ob lig ate e xte rnal rotation that is se e n as the hip is
e xe d . The e xamine r is just e xing the hip and the e xte rnal rotation is
occurring sp ontane ously d ue to the ab normal anatomy. This is the
re sult of fe moral ne ck imp ing e me nt on the ace tab ular rim d uring hip other etiologies)—Damage to the epiphyseal bone of the femoral
e xion. (Use d with p e rmission from David Gurd , MD.) head; usually the result of lack of blood supply, often for an
PART 13
SLIPPED CAPITAL FEMO RAL EPIPHYSIS (SCFE) 541
neck that is a result of overactivity or intense, repetitive activity

(military recruits, etc.). Initial radiographs may be negative.
thigh, particularly adductor brevis, adductor longus, and adductor

magnus. These muscles take their origin from the pubic rami,
giving the patient the impression that they have a “pulled groin”
when strained.
and the surrounding muscle insertions. It is usually the result of

microtrauma to the joint and surrounding muscle insertions during
repetitive activities.
apophysis (a bony process that is the site of ligament or tendon

attachment, associated with a growth plate), seen most commonly
FIGURE 89-5 Bilate ral slip p e d cap ital fe moral e p ip hysis in a 12-ye ar in the pediatric athlete. In pediatric patients, failure at the apophy-
old b oy on AP vie w. (Use d with p e rmission from Ryan Good win, MD.)
sis is common, as the growth plate tends to be weaker than its
attached tendon or ligament.
unknown reason. This results in collapse of the overlying articular
cartilage, which can lead to premature arthritis if the bone and
MANAGEMENT
NO NPHARMACO LO GIC
physeal fracture)—Fracture through the proximal femoral physis
(growth plate fracture), immediately below the femoral head (sub- is no longer used in current treatment due to its dif culty and
capital femoral neck fracture), or at the base of the neck (basicervical complications.
femoral neck fracture). These fractures are almost exclusively trau-
matic in nature. poorly in this demographic, as well as prolonged bedrest for traction.
-
drolysis is far greater in patients treated with casting than with
patients treated surgically. 11,12
MEDICATIO NS
in SCFE patients. No medications are used for the treatment of the

condition.
SURGERY
Surgical management is the standard of care for the management of
SCFE. 11,12 SO R Numerous surgical management options are suc-
cessfully employed, including percutaneous in situ pinning, open
reduction and internal xation, and osteotomy.
as this maneuver causes increased risk of avascular necrosis due to

disruption of blood supply.
be visualized during an open procedure.
now the most commonly used treatment option.

-
FIGURE 89-6 Kle in’s line , which runs alo ng the sup e rior asp e ct of the rable to two or three pins to maintain stability. SOR
fe moral ne ck, as se e n on AP vie w of the hip . Slip p e d cap ital fe moral
e p ip hysis is d iag nose d whe n the line d oe s no t inte rse ct any p ortion of
the fe moral he ad . (Use d with p e rmissio n from Thomas Kuivila, MD.) or not to pin the unaffected hip prophylactically. In general, it is
PART 13
542 CHAPTER 89
recommended that prophylactic pinning of the unaffected hip occur PRO VIDER RESO URCES
in younger patients (with a low Oxford bone age score) and in
patients with a concomitant endocrine abnormality.
www.posna.org/ education/ StudyGuide/
slippedCapitalFemoralEpiphysis.asp.
REFERRAL
article/ 91596.
and strict non–weight-bearing status, followed by a consultation to
pediatric orthopedic surgery.
as an outpatient, as further activity and ambulation poses signi cant REFERENCES

risks for further slippage.
J Pediatr Orthop
PREVENTIO N AND SCREENING a population-based study. J Pediatr Orthop B.

-
genesis, and natural history. Clin Orthop Relat Res. 2012;9.
clinician should suspect SCFE in any adolescent or preadolescent
pediatric patient presenting with knee, thigh, or hip pain.
A review of the literature. Pediatrics
presents with pain outside the hip region.
in the US. J Pediatr Orthop
6. Aronson J, Tursky EA. The torsional basis for slipped capital
PRO GNO SIS femoral epiphysis. Clin Orthop Relat Res
current concepts. J Pediatr Orthop B

satisfactory results reported to be as high as 96 percent.
Slipped capital femoral epiphysis associated with
endocrine disorders. J Pediatr Orthop
results seen in only 1/ 2 of the patients. 16
head and femoro-acetabular impingement (FAI). J Pediatr Orthop
with endocrine disease. J Pediatr Orthop

FO LLO W-UP
be followed by their surgeon until the physis has become stable,

evidenced by a bony bridge across the physis. meeting of the Pediatric Orthopedic Society of North America,
found to occur concomitantly with another abnormality (i.e.,

hypothyroidism). femoral epiphysis. J Bone Joint Surg
of single- versus double-screw xation in slipped capital femoral

PATIENT EDUCATIO N epiphysis at physiological load levels. J Pediatr Orthop. 1994;
-
bear between diagnosis and surgery. When the diagnosis is made J Pediatr
the child should be evaluated immediately in a hospitalized setting Orthop
with the parents helping to enforce the no weight-bearing rule.
epiphysis using the modi ed Oxford bone age score. J Pediatr
PATIENT RESO URCES Orthop
www.orthoinfo.aaos.org/ topic.cfm?topic=a00052. J Bone Joint

www.ncbi.nlm Surg
.nih.gov/ pubmedhealth/ PMH0001967.
PART 13
O SGO O D-SCHLATTER 543
90 O SGO O D-SCHLATTER
Kimb e rly Giuliano, MD
Elle n Park, MD
PATIENT STO RY
An adolescent male presents with unilateral knee pain and swelling

(Figure 90-1). His pain is worse after athletic participation and with
kneeling. On examination, he has point tenderness and edema of the
tibial tubercle. He is diagnosed with Osgood-Schlatter disease and
treated with rest, ice, and non-steroidal anti-in ammatory medication.
His symptoms improve but he continues to have mild ares of pain
when he is more active.
INTRO DUCTIO N
Osgood Schlatter disease was described in 1903 by Dr. Osgood and

Dr. Schlatter as pain and edema of the anterior tibial tubercle. 1,2
These clinical ndings result from traction apophysitis at the patellar
tendon insertion site on the proximal tibial tubercle.
FIGURE 90-2 Promine nt tib ial tub e rcle in an ad ole sce nt fe male with
SYNO NYMS O sg ood -Schlatte r d ise ase . (Use d with p e rmission from Richard P.
Usatine , MD.)
Osteochondritis of tibial tubercle; tibial tuberosity avulsion.
EPIDEMIO LO GY
Figure 90-2). 3
apophysis.
tendon insertion at the tibial tubercle.
tibial tubercle.
RISK FACTO RS
FIGURE 90-1 Promine nce of the tib ial tub e rosity consiste nt with
O sg ood -Schlatte r d ise ase in an ad o le sce nt male . (Use d with p e rmis-
6
sion from Richard P. Usatine , MD.)
PART 13
544 CHAPTER 90
A B C
FIGURE 90-3 A. Mild chang e s of O sg ood -Schlatte r d ise ase in an 11-ye ar-old b oy on le ft kne e late ral rad iog rap h. Note mild p ate llar te ndon thicke n-
ing and e d e ma with slig ht irre g ularity of tib ial tub e rcle . B. Mild chang e s of O sg ood -Schlatte r d ise ase in rig ht kne e late ral rad iog rap h with incre ase d
p ate llar te nd on thicke ning , soft tissue e de ma and irre g ularity of tib ial tub e rcle . C. Frag me ntation of the tib ial tub e rcle in O sgood -Schlatte r d ise ase .
(Use d with p e rmission from Elle n Park, MD.)
DIAGNO SIS prompt evaluation for infection as these symptoms are not typical
for Osgood-Schlatter.
CLINICAL FEATURES
DISTRIBUTIO N
IMAGING
-
cated unless unusual features are present to suggest an alternate
diagnosis.
fragmentation and irregularity of the tibial tubercle, anterior knee

soft tissue swelling, and patellar tendon thickening on the lateral
knee x-ray (Figure 90-3
tubercle has not yet ossi ed (often between the ages of 9 and
11 years).
of imaging and will demonstrate spectrum of ndings including soft

tissue edema, infrapatellar fat pad edema, patellar tendon thicken-
ing, and bony changes (Figure 90-4).

FIGURE 90-4 MRI (T2 we ig hte d imag ing ) of kne e in an 11-ye ar-old
with O sg ood -Schlatte r d ise ase . Bone marrow e d e ma and frag me nta-
are absent in Osgood-Schlatter (i.e., fever, pain at rest, night awak- tion of tib ial tub e rcle is p re se nt along with e d e ma of the ad jace nt soft
enings, systemic complaints). tissue s. (Use d with p e rmission from Elle n Park, MD.)
PART 13
O SGO O D-SCHLATTER 545
typically presents with subacute pain without an identi ed

PREVENTIO N
participation.
arthritis are not isolated to the tibial tubercle and are often
within the tibial tubercle.

PRO GNO SIS
is consistent with tendonitis and is not present in Osgood-Schlatter.

reaching skeletal maturity.
-
ysitis and the tibial tubercle is not involved.
maturity.
tibial tubercle is non-tender.
FO LLO W-UP
the tibial tubercle.
physician if pain does not decrease with good adherence to conser-
vative treatment measures; however, mild persistent pain is
MANAGEMENT expected.
NO NPHARMACO LO GIC fevers should prompt further evaluation.

SO R
SO R
11 SO R PATIENT EDUCATIO N
12 SO R
process and that adherence to conservative treatment measures is

trauma. SO R important to recovery from symptoms.
SO R
SO R PATIENT RESO URCES

MEDICATIO NS injuries-emergencies/ sports-injuries/ Pages/
SO R Knee-Pain-and-Osgood-Schlatter-Disease.aspx.
www.orthoinfo.aaos.org/ topic.cfm?topic=a00411.
refractory cases of Osgood-Schlatter. 13 SO R
SURGERY -
www.guideline.gov/
content.aspx?id=38462.
symptoms after the patient reaches skeletal maturity. SO R
REFERENCES
REFERRAL
adolescence. Boston Med Surg J.

symptoms:
der oberen tibiaepiphyse. Beitre Klin Chir Tubing.
Acta Chir Scand.

PART 13
546 CHAPTER 90
Schlatter disease. J Pediatr Orthop. Schlatter disease. Clin Orthop.
of Osgood-Schlatter disease: a magnetic resonance investigation.

J Pediatr Orthop B. Schlatter disease. Pediatrics.
patellar height in Osgood-Schlatter disease. J Pediatr Orthop. treatment of unresolved Osgood-Schlatter lesion. Ann Chir
Gynaecol.
Sports Exer
Injury. 1996;2:202-206. disease. J Pediatr Orthop.
Schlatter lesion. J Bone Joint Surg Am. symptomatic Osgood-Schlatter disease. J Pediatr Orthop.
-
tion. Am J Sports Med. treatment of unresolved Osgood-Schlatter disease: ossicle resec-
tion with tibial tubercleplasty. J Pediatr Orthop.
of the literature and an Australian series. Aust J Sci Med Sport.
treatment of unresolved Osgood-Schlatter disease in young

of conservative treatment and load restriction to the course of J Bone Joint Surg Am. 2010;92(1):
Medicina.
SCO LIO SIS
Joe l Kolmod in, MD
David Gurd , MD
~
CLINICAL FEATURES
~
Fig ure 91-7
SURGERY
NO NPHARMACO LO GIC
MEDICATIO NS
CO MPLIMENTARY/ ALTERNATIVE THERAPY A
A.
B.
A B
Fig ure 91-1 91-2 A.

B.
REFERRAL
PATIENT RESO URCES

J Spinal Disord
J Bone Joint
Surg (am)
J Bone Joint Surg Am
Clin Orthop
REFERENCES J Bone Joint Surg Am
Spine. Thorax
Clin Orthop Relat Res

Spine.
Skeletal Growth
J Bone Joint Surg Br. and Development: Clinical Issues and Basic Science Advances
J Bone
Joint Surg Am J Spinal
Orthop Clin Disord Tech
North Am School Screening
Programs for the Early Detection of Scoliosis
J Bone Joint Surg Am
J Bone Joint
Surg Br
Spine
PART 14
DERMATO LO GY
St re ng t h o f
(SO R) De nit io n

PART 14
556 CHAPTER 92
DERMATO LO GY
SECTIO N 1 EARLY CHILDHO O D DERMATO LO GY
92 NO RMAL SKIN CHANGES

O F INFANCY
Mind y Smith, MD, MS
Cristina Fe rnand e z, MD
PATIENT STO RY
A 2-week-old infant is brought to the of ce for her rst well-baby

check. The parents noticed a rash on the face. You diagnose the white
spots on the bridge of the nose as milia and neonatal acne on the
cheeks. The parents are happy to hear that the neonatal acne and milia
will go away without treatment (Figures 92-1 and 92-2).
FIGURE 92-2 Ne onatal acne on the same infant as in Fig ure 92-1.
INTRO DUCTIO N
-
quently as they are a common parental concern. Almost all newborn prepared to identify common rashes and provide advice to parents. 1
rashes are benign; however, a few are associated with more serious
conditions. A newborn’s skin shows a variety of changes during the skin (Figure 92-1) or on the roof of the mouth.
-
ules or whiteheads with surrounding erythema on the skin of new-
borns (Figure 92-2).
or bluish-gray pigment usually in the sacral area, back, and buttocks

of infants (Figures 92-3 and 92-4).
eruption appearing as small yellow-white papules or vesicles with

surrounding skin erythema (Figures 92-5 and 92-6).
FIGURE 92-1 Milia on the face of a 2-we e k-old infant with g re ate st
numb e r of milia on the nose . (Use d with p e rmissio n from Richard P. FIGURE 92-3 Larg e mong olian sp ots cove ring the b uttocks and b ack
Usatine , MD.) of a Hisp anic infant. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
NO RMAL SKIN CHANGES O F INFANCY 557
DERMATO LO GY
FIGURE 92-6 More wid e sp re ad case of e rythe ma toxicum ne onatorum

(ETN) cove ring the infant. ETN is comp le te ly b e nign and will re solve
sp ontane ously. (Use d with p e rmission from the Unive rsity of Te xas
He alth Scie nce s Ce nte r, Division of De rmatolog y.)
EPIDEMIO LO GY
milia. 2 This condition is mainly associated with newborns carried to

full term or near term.
FIGURE 92-4 Promine nt mong olian sp ots on the b ack of a 1-ye ar-old -
b lack child . (Use d with p e rmission from Richard P. Usatine , MD.) cally consists of close comedones of the forehead, nose, and cheeks,
the rst week of life and is 5 times more common in boys than girls.3
SYNO NYMS
-
tal dermal melanocytosis, and dermal melanocytosis.
5 percent of premature infants. The incidence rises with increasing
gestational age and birth weight.
= -
cent.
caused by retention of keratin within the dermis. They may rarely

be associated with other abnormalities in syndromes such as epider-
molysis bullosa and the orofacial digital syndrome (type 1).
-
that neonatal acne is caused by an increase in dehydroepiandros-
hyperactivity of the fetal adrenal gland. 3

~
FIGURE 92-5 One small spot of erythema toxicum neonatorum (ETN) on
a 2-d ay-old infant. (Used with p ermission from Richard P. Usatine, MD.) keratin-plugged ori ces.
PART 14
558 CHAPTER 92
DERMATO LO GY
- ~
melanocytes in the dermis during their migration from the neural

crest into the epidermis. ~
tumor, melanoma, and phakomatosis pigmentovascularis types ~
2 and 5. 2,11
~
with inborn errors of metabolism, the most common being
They can, however, occur anywhere and may be present at birth or
appear subsequently. The milia on the child in Figure 92-1 were
they are likely to persist rather than resolve.
present at birth.
immune system reaction; the condition is associated with increased

Figure 92-2). 2
levels of immunologic and in ammatory mediators (e.g., interleu-
12
~ area (Figure 92-3), but the buttocks, anks, and shoulders

hypersensitivity-related etiology, but no allergens have been (Figure 92-4
an eosinophilic in ltrate.
~
mature newborn skin is required to produce this reaction pattern. and soles rarely occurs (Figures 92-5 and 92-6).
LABS AND IMAGING

DIAGNO SIS
CLINICAL FEATURES -
ies are needed to rule out a spinal meningeal tumor or anomaly.
Figure 92-1)
that are actually small inclusion cysts ranging from 1 to 2 mm in
2
~ - done to con rm the diagnosis.

~
weeks in infants born before term. 11,12

~ A complete blood count (CBC) also shows eosinophilia (up to
Figure 92-2) includes comedones (i.e., white-
heads), papules, and pustules.
~
may be more pronounced when the eruption shows a marked
2 pustular component.
Figures 92-3 and 92-4) is a bluish-black mac-

ule or patch typically a few centimeters in diameter, although much DIFFERENTIAL DIAGNO SIS
larger lesions also can occur. Lesions may be solitary or numerous.
~
Other diagnoses that can be confused with milia, neonatal acne, and
reported.
~
I (miliaria rubra) or clear (miliaria crystallina) or pustular (miliaria

margins, and persist for many years (Figure 92-4). pustulosa) (Figure 92-7
I Aberrant mongolian spots involve unusual sites such as the face caused by partial closure of eccrine structures. Both milia and mili-
aria result from immaturity of the skin structures, but they are clin-
I ically distinct entities.
macular-type blue nevi.
erythema (Figures 92-5 and 92-6). rash occurs in 5 percent of African American newborns and in less
~
~ Figure 92-6), pale yellow or white wheals

-
administration and can be more widespread.
PART 14
NO RMAL SKIN CHANGES O F INFANCY 559
DERMATO LO GY
FIGURE 92-7 Miliaria (he at rash) in a 6-month-old infant on a warm FIGURE 92-8 Cutis marmorata in a 4-month-old infant in a cold e xam
summe r d ay. (Use d with p e rmission from Richard P. Usatine , MD.) room. Notice the re ticular p atte rn. This re solve d whe n the infant was
warme d . (Use d with p e rmission from Richard P. Usatine , MD.)
Figure 92-8) is reticulated mottled skin with
- vascular response to cold; the change resolves with heat. This
brown to red or black, often within a single lesion and the pigment
may fade off into surrounding skin. The borders are often irregular occurs when the newborn lies on one side and erythema develops
and the lesion can appear slightly raised over time (although a mac- on one side of the body, while blanching is seen on the contralat-
-
cytic nevi have a darker color and more discrete borders than mon-
golian spots. A biopsy is only needed if melanoma is suspected (see between the second to fth days of life and lasts up to 3 weeks. 13
- are passively transferred to the baby producing well-demarcated,

ing that occurs in child abuse. A good history and a clear knowl- erythematous, scaling patches that are often annular, predomi-
edge of the pattern of mongolian spots should help to differentiate nately on the scalp, neck or face (Figure 92-9). The condition is
between these two entities.
photoprotection; mild topical steroids may be helpful.
-
MANAGEMENT
-
- -
tions and parents should be reassured that they resolve with time.
-
thematous base are often the rst manifestations of neonatal herpes
for 1 week. 3
3
-
ular rash in the newborn should be evaluated for the possibility of her-
PRO GNO SIS

beginning with red macules and passing through stages of papule,
mostly born with adequate maternal antibodies to varicella, so that

timing should differentiate between these two conditions (see
within 3 to 5 years and almost always by puberty.
PART 14
560 CHAPTER 92
DERMATO LO GY

www.adhb.govt.nz/ newborn/ teachingresources/
dermatology/ BenignLesions.htm.
www.aafp.org/ afp/ 2008/ 0101/ p47.html.
REFERENCES
Birthmarks. Am Fam Physician.

Pediatric Milia
-
Semin Cutan Med Surg.
Pediatr
Neurol.
a literature review. Clin Pediatr (Phila).

Prim Care.
FIGURE 92-9 Ne onatal lup us from acq uire d antib od ie s throug h trans- Dermatology.
p lace ntal transmission from the mothe r with active syste mic lup us e ry-
the matosus (SLE). Note the annular p atte rns of scale . (From Warne r
AM, Fre y KA, Connolly S. Photo round s: annular rash on a ne wb orn. J
Fam Pract. 2006;55(2):127-129. Re p rod uce d with p e rmission from
Frontline Me d ical Communications.) -
relation with race, ethnicity, and gestational status using updated
classi cation and nomenclature. J Pediatr
lesions appearing and disappearing in different areas over hours.
PATIENT EDUCATIO N predisposing factors. Pediatr Dermatol
Pediatr Rev.
Pediatr Clin North Am.
use of nonprescription rash medications is not recommended.
help and may actually aggravate the acne. Am J Dis Child.
Arch Pediatr Adolesc Med.
PATIENT RESO URCES

PMH0002343/ .
www.womenshealthcaretopics.com/
baby_acne.htm.
www.nlm.nih.gov/ medlineplus/ ency/
www.nlm.nih.gov/ medlineplus/ ency/
CHILDHO O D HEMANGIO MAS AND PART 14
VASCULAR MALFO RMATIO NS 561
DERMATO LO GY
93 CHILDHO O D SYNO NYMS

HEMANGIO MAS Infantile hemangiomas, angiomas. Strawberry hemangiomas are also
AND VASCULAR called super cial hemangiomas of infancy. Cavernous hemangiomas
MALFO RMATIO NS are also called deep hemangiomas of infancy.
Me g ha Mad hukar, MD EPIDEMIO LO GY
PATIENT STO RY
female infants. In one study, the mothers of children with heman
A baby girl is brought to the of ce because her mother is concerned
giomas are of higher maternal age, have a higher incidence of pre
over the growing strawberry hemangioma on her face. Her mother
eclampsia and placenta previa, and are more likely to have had mul
is reassured that most of these childhood hemangiomas regress
tiple gestation pregnancies. 1
over time and that there is no need for immediate treatment
(Figure 93-1).
of children born with hemangiomas. 1
play a role in the formation of hemangiomas. 1

INTRO DUCTIO N 1
Hemangiomas are the most common benign tumors of infancy.

They can be problematic if they block vision or interfere with any
vital function. Most hemangiomas are small and of cosmetic ETIO LO GY AND PATHO PHYSIO LO GY
concern only.
blood vessels. Most childhood hemangiomas are thought to occur

sporadically.
eration, followed by spontaneous and slow involution, often lead

ing to complete regression. Most childhood hemangiomas are small
and innocuous, but some grow to threaten a particular function
(Figure 93-2) or even life.
mark of hemangiomas, when rapidly dividing endothelial cells are

responsible for the enlargement of these lesions. The hemangiomas
phase occurs during the rst year, with most growth taking place
during the rst 6 months of life. Proliferation then slows and the
hemangioma begins to involute.
involution. However, in one type of hemangioma, the rapidly invo

luting congenital hemangioma, the proliferation phase occurs
entirely in utero such that the lesion is fully developed at birth,
followed by complete involution during the second year of life. 1
to complete the process of involution. 1
FIGURE 93-1 Strawb e rry he mang ioma on the face causing no

functional p rob le ms. Tre atme nt is re assurance and watchful waiting . leave residual evidence of the hemangioma in the form of a scar,
PART 14
562 CHAPTER 93
DERMATO LO GY
FIGURE 93-2 Larg e he mang ioma on the face ne e d ing imme d iate FIGURE 93-3 Strawb e rry he mang ioma p re se nt since b irth o n the face
tre atme nt to p re ve nt amb lyop ia in the le ft e ye . Althoug h this he man- of a 22-month-old g irl. Althoug h it is close to he r e ye , he r vision has
g ioma follows the V1 d e rmatome , this is not a p ort-wine stain and the ne ve r b e e n occlud e d . She has b e e n followe d b y op hthalmolog y and
p atie nt d oe s not have Sturg e -We b e r synd rome . (Use d with p e rmission no active tre atme nt was re comme nd e d . The he mang ioma g re w larg e r
from Richard P. Usatine , MD.) d uring the rst ye ar of life and is now b e g inning to involute without
tre atme nt. (Use d with p e rmission from Richard P. Usatine , MD.)
1
Anywhere on the body, most often on the face, scalp, back, or chest.
IMAGING
DIAGNO SIS Most hemangiomas of infancy do not need imaging. If the hemangi
CLINICAL FEATURES
Early lesions may be subtle, resembling a scratch or bruise, or alter
natively may look like a small patch of telangiectasias or an area of
hypopigmentation. Hemangiomas can start off as a at red mark, but
as proliferation ensues, it grows to become a spongy mass protruding
from the skin. The earliest sign of a hemangioma is blanching of the
involved skin with a few ne telangiectasias followed by a red macule.
angioma. 1 Hemangiomas are typically diagnosed based on appearance,

rarely warranting further diagnostic tests.
Hemangiomas may be super cial, deep, or a combination of both.
Super cial hemangiomas are well de ned, bright red, and appear as
nodules or plaques located above clinically normal skin (Figures 93-1
to 93-3
often have a bluish hue and feel rm and rubbery (Figure 93-4).
Most are clinically insigni cant unless they impinge on vital struc
tures, ulcerate, bleed, incite a consumptive coagulopathy, or cause
FIGURE 93-4 De e p (cave rnous) he mang ioma on the arm in a
high output cardiac failure or structural abnormalities. Blocking 9-month-old child . Tre atme nt is watchful waiting . (Use d with p e rmission
vision is a common reason needed for treatment (Figure 93-2). from Richard P. Usatine , MD.)
DERMATO LO GY
while also differentiating them from high ow vascular lesions, like

arteriovenous malformations. 1 Ultrasound is a useful tool to differen
tiate hemangiomas from other subcutaneous structures such as cysts
1
Plain radiography may be useful for evaluating hemangiomas that

impinge on an airway. 1
BIO PSY
Biopsies are rarely needed and can be risky because vascular lesions
may bleed profusely. If a biopsy is being considered, it might be best
to refer to a specialist.
include those above the eyelids and nape of the neck. These are called
salmon patches
hood but are rarely an issue because they often get covered by hair
(Figures 93-5 and 93-6). These capillary malformations are a vari
FIGURE 93-6 Salmon patch (a variant of nevus ammeus) on the neck of
this young child called a “stork bite.” These vascular malformations per-
sist into ad ulthood. (Used with permission from Richard P. Usatine, MD.)
nodules, similar to deep hemangiomas.
resembling a hemangioma, especially after a hemangioma has

angiomas, and more recently spindle cell hemangiomas. It is impor ulcerated as a result of rapid proliferation.
tant to identify Maffucci syndrome early because it is associated with
an increased risk of malignancy. May appear as multiple vascular
MANAGEMENT
or neck, may be cutaneous or mucosal.

cent cause complications like ulcerations, irreversible cutaneous
airways. 6
PHACE (posterior fossa malformations, hemangiomas, arterial

anomalies, coarctation of aorta, cardiac defects, eye abnormalities)
syndrome and therefore will need evaluation of the eyes, central
syndrome).
~ P
~ H
~ A
or head.
~ C
~ Eye abnormalities.
~
FIGURE 93-5 Salmon p atch (a variant of ne vus amme us) on the

up p e r e ye lid calle d an “ang e l’s kiss.” The se re solve b y ag e 2 ye ars.
(Use d with p e rmission from Richard P. Usatine , MD.) to a head and neck surgeon.
PART 14
564 CHAPTER 93
DERMATO LO GY
These include the diaper area (Figure 93-7) and the back of the
head. Small ulcerations can be treated with topical mupirocin in
SO R
and rapidly proliferating infantile hemangiomas. It has been suc

cessfully used to treat periorbital infantile hemangiomas and other
problematic infantile hemangiomas (Figure 93-8). SO R
per day divided into qid dosing. It is advisable to monitor for hypo
glycemia and low blood pressure even though this treatment has
been found to be safe in a number of studies. If the child is toler
ating the treatment well, the dose may be increased to the recom
doses. Treatment should be maintained until the lesion is com

pletely involuted or the child is 1 year of age.
shown to provide an effective and rapid way of treating hemangio

mas. 7 SOR
virtually complete involution of hemangiomas. 7
effect in 7 percent of patients. The authors recommended treating

FIGURE 93-7 Strawb e rry he mang ioma in the p e rianal are a of a
5-month-old g irl. This is at hig h risk of ulce ration. (Use d with p e rmis-
sio n from Richard P. Usatine , MD.)
resolved once therapy was discontinued.7 Growth may be retarded
temporarily.
A B
FIGURE 93-8 Larg e infantile he mang ioma in which the child d o e s not have the PHACE synd rome . Howe ve r, urg e nt the rap y was
ne e d e d to shrink this he mang ioma. A. Be fore p rop ranolol the rap y. B. Afte r p rop ranolol the rap y. (Use d with p e rmission from John
Browning , MD.)
DERMATO LO GY
ful in the treatment of small hemangiomas, especially periocular

hemangiomas and those at sites prone to ulceration and dis gure
their age. Thinner, more super cial hemangiomas demonstrated

better improvement than thicker, deeper lesions. SO R
childhood hemangiomas in properly selected infants. In a research
FIGURE 93-9 Strawberry hemangioma on the face causing no functional

9 SO R
Avoid intralesional problems in a 3-month-old girl. The parents requested treatment and a
course of top ical timolol g el 0.5 percent was initiated. While the heman-
steroids around eye. gioma was in the b eard area, the child had no problems with breathing or
snoring. A referral to ENT was not needed to investigate for laryngeal
hemangiomatosis. (Used with permission from Richard P. Usatine, MD.)
to be an effective treatment method for super cial cutaneous hem
angiomas at sites of potential functional impairment and on the
NEW TO PICAL THERAPY
Hemangiomas with a deep component do not seem to bene t from number of studies to effectively treat infantile hemangiomas
(Figure 93-9). SO R
a truly super cial hemangioma, as the laser is limited by its depth tors of better response were super cial type of hemangioma
SO R
(p = =
= SO R Another
ous psychological distress are strong reasons to consider surgical
patients with small super cial hemangiomas found that treatment
regression. SO R was most effective in the early proliferative stage. SO R
vent debilitating consequences such as amblyopia (Figure 93-2). FO LLO W-UP

Early treatment is also recommended for proliferative labial tumors
because not only do they have a tendency to bleed, but they also
make eating dif cult. Additionally, early treatment with a consider tions are recommended for uncomplicated hemangiomas of infancy.
ation for surgery is advised for hemangiomas located on the nasal
tip as they regress slowly and may ultimately result in distortion of individual basis.
the nasal framework. 11
PATIENT EDUCATIO N
tissue, like ulcerated hemangiomas and thin super cial hemangiomas,
especially when their locations may result in psychosocial distress for Hemangiomas are benign and not cancer. They are common and up
especially promising with its ability to selectively damage blood ves

sels with minimal damage to surrounding tissues. This procedure is ments, there are new treatments that are safe and effective (oral
also associated with decreased pain and increased healing. SOR propranolol and topical timolol).
remove the residual tissue that may be causing cosmetic or func PATIENT RESO URCES
www.birthmark.org.
reduce the risk of hemorrhage.
consultations with pediatric dermatologists, ophthalmologists, oto
laryngologists, plastic surgeons, and pediatric neurosurgeons may www.novanews.org.
be necessary to ensure proper care.
PART 14
566 CHAPTER 93
DERMATO LO GY
REFERENCES
Infantile Hemangioma therapy for infantile hemangiomas. Plast Reconstr Surg.
Differential Diagnosis in
Dermatology
Arch Dermatol.
J Laryngol Otol. Br J Plast Surg.
Textbook of Dermatopathology Surgical Dermatology.
ader of ulcerated hemangioma. Pediatr Dermatol.

Dermatology
J Pediatr.
retrospective, multicenter, cohort study. Pediatr Dermatol.

high doses of prednisone. J Pediatr.
topical corticosteroid treatment of hemangiomas of infancy. J Am

study. Clin Exp Dermatol.
Acad Dermatol.
PART 14
PUSTULAR DISEASES O F EARLY CHILDHO O D 567
DERMATO LO GY
94 PUSTULAR DISEASES
O F EARLY CHILDHO O D
And re w She d d , MD
PATIENT STO RY
A 1-year-old boy is brought for a second opinion about the recurrent

pruritic vesicles and pustules on his hands and feet. This is the third epi-
sode, and in both previous episodes, the physicians thought the child had
scabies. The child was treated with permethrin both times and within 2
FIGURE 94-2 Acrop ustulosis with ve siculop ustular e rup tion on the
to 3 weeks the skin cleared. No other family members have had lesions toe s of the b o y shown in Fig ure 94-1. (Use d with p e rmission from
or symptoms. Figures 94-1 to 94-3 demonstrate a typical case of infan- Richard P. Usatine , MD.)
tile acropustulosis that is often misdiagnosed as scabies. Although the
condition can be recurrent, it is ultimately self-limited and will resolve. 1
of life and as late as
10 months of age. 2
INTRO DUCTIO N 1
Acropustulosis and transient neonatal pustular melanosis (TNPM) are

pustular diseases that typically present in infancy. Acropustulosis is a Transient neonatal pustular melanosis:
pruritic vesiculopustular disease presenting between 2 and 10 months 3
of age and remitting spontaneously by 36 months of age. TNPM is 3

present at birth and characterized by 2- to 3-mm hyperpigmented
macules and pustules. Acropustulosis may require symptomatic treat-
ment of pruritus, but otherwise both illnesses are self-limiting. infants.
3
EPIDEMIO LO GY
Acropustulosis:
Acropustulosis:
5
children. 1
FIGURE 94-1 Infantile acro p ustulosis (acrop ustulosis of infancy) on the FIGURE 94-3 Acrop ustulosis with p ruritic e rup tion on the hand and
foot of a 1-ye ar-old b oy. (Use d with p e rmission from Richard P. Usatine , wrist of the b oy shown in Fig ure s 94-1 and 94-2. (Use d with p e rmission
MD.) from Richard P. Usatine , MD.)
PART 14
568 CHAPTER 94
DERMATO LO GY
infantile acropustulosis will occasionally be concurrently present

among siblings. Also, patients diagnosed with this disorder fre-
quently have received prior treatment for scabies, which may either
provide evidence of an infectious etiology or demonstrate the fre-
-
cludes that in some cases, this disease may represent a hypersensi-
tivity reaction to Sarcoptes scabiei.
Transient neonatal pustular melanosis:
6
however, it may result from an obstruc-
tion of the pilosebaceous ori ce. 3
DIAGNO SIS
- FIGURE 94-4 Transie nt ne onatal p ustular me lanosis on the hand of a

ne wb orn. Note the p ustule d oe s not have surround ing e rythe ma.
tious causes should be considered whenever confronted with a new (Use d with p e rmission from Dan Stulb e rg , MD.)
pustular dermatosis early in a child’s life. A workup might include
tests. If these studies are negative, the diagnosis may be made

clinically as described below. surfaces of the hands and feet and occasionally the face, scalp,
and trunk. 5
-
nance of neutrophils with an occasional eosinophil, and the Gram they may also be present on the neck, chest, sacrum, abdomen,
stain will be negative. 3 and thighs. 7
CLINICAL FEATURES LABO RATO RY TESTING

Acropustulosis:
months of life and are typically concentrated on the hands and feet the lesions are also not needed but will demonstrate many neutro-
(Figures 94-1 to 94-3). 1 phils, 1 with some eosinophils possible early in the course. 2
1
of less than 5 mm in diameter. 2 some eosinophils, with a negative Gram stain. 3 Blood counts should
be normal and no laboratory workup is generally indicated.
10 days and may recur every 2 to 5 weeks, 1,2 decreasing in frequency
and severity2 until spontaneous remission around 3 years of age. 1
-
mentation. 2
Transient neonatal pustular melanosis:
3-mm macules and pustules on a nonerythematous base

(Figures 94-4 to 94-7). 7
7
and subsequently rupture
postnatally in 1 to 2 days.
age, 3 -
tation (Figures 94-6 and 94-7). 7
small, brown macules with a rim of scale at birth (Figure 94-7). 7
FIGURE 94-5 Transie nt ne onatal p ustular me lanosis on scrotum of the
same ne wb orn with multip le p ustule s and no e rythe ma. (Use d with
palms and soles, the pustules may also be found on the dorsal p e rmission from Dan Stulb e rg , MD.)
PART 14
PUSTULAR DISEASES O F EARLY CHILDHO O D 569
DERMATO LO GY
burrows may reveal mites, feces, eggs, or all of the preceding. 3

Acropustulosis will be refractory to all scabies therapies but scabies
therapy may appear to work because each episode of acropustulosis
2 days after birth, this disease of unknown etiology causes 2- to
pustules. The lesions, which spare the palms and soles, contain a
predominance of eosinophils and resolve spontaneously by 2 weeks
3
and honey-colored crusts, caused by group A Streptococcus, or

Staphylococcus aureus. Gram stain and culture should be positive
3
found around the genitals and folds of skin. Candida yeast forms pres-
3
in childhood. Uniformly distributed, pruritic, with known contacts

FIGURE 94-6 Transie nt ne onatal p ustular me lanosis on the le g of a
ne wb orn. Note the hyp e rp ig me nte d macule s whe re the p ustule s have
re solve d . (Use d with p e rmission Kane KS, Lio P, Stratig os AJ, Johnson -
RA. Color Atlas and Synop sis of Pe d iatric De rmatolog y, 2nd e d ition,
Fig ure 1-8, McGraw-Hill, 2009.)
thematous base. May occur as gingivostomatitis in young children
but rarely seen in the distribution of the pustular diseases of child-

-
- sackievirus and other enteroviruses and produces papules and mac-
rows and vesicles with scale and crust, most commonly found in -
the web spaces of the digits, wrists, elbow, genitals, and lower ation and eventual resolution. They typically affect the dorsum of
the hands and feet and are also accompanied by painful oral lesions
3
and is characterized by the acute appearance of diffuse, painful, pin-
136, Psoriasis). 1
MANAGEMENT
Acropustulosis:
1
and
not necessary in management. 5 SO R
1 SO R
of itching as it works by a different mechanism than antihista-

mines. 5 SO R
5
FIGURE 94-7 Transie nt ne onatal p ustular me lanosis with a numb e r of
intact p ustule s and some hyp e rp ig me nte d macule s with a rim of scale -
whe re the p re vious p ustule s had rup ture d . (Used with permission from
Weinberg SW, Prose NS, Kristal L, Color Atlas of Pediatric Dermatology, tions are generally considered to outweigh the bene ts, unless
4th edition, Figure 1-3, New York, NY: McGraw-Hill, 2008.) the pruritus is debilitating. 1 SO R
PART 14
570 CHAPTER 94
DERMATO LO GY
Transient neonatal pustular melanosis: PATIENT AND PRO VIDER RESO URCES
Acropustulosis of Infancy http:// emedicine
condition is benign and will resolve spontaneously with eventual .medscape.com/ article/ 1109935.
normalization of any hyperpigmented macules. 6 SO R Transient Neonatal Pustular Melanosis http:// emedicine
PRO GNO SIS
REFERENCES
Pediatric Dermatology and Dermatopathology:
A Concise Atlas
Color Atlas of Pediatric Dermatology,
FO LLO W-UP
Color Atlas and Synopsis of
Acropustulosis may require initial follow-up for control of symptoms Pediatric Dermatology
follow-up may be unnecessary as the child ages and the disease Andrews’ Diseases of the Skin,
decreases in severity and frequency. If dapsone is prescribed, proper Clinical Dermatology
monitoring is indicated. Acropustulosis of Infancy
TNPM needs no speci c follow-up other than normal well-child care.
Neonatal Pustular Melanosis
PATIENT EDUCATIO N
Pediatric Dermatology
diseases are self-limited is the most important piece of information to

communicate to the family.
PART 14
DIAPER RASH AND PERIANAL DERMATITIS 571
DERMATO LO GY
95 DIAPER RASH AND

PERIANAL DERMATITIS
Brid g e t Malit, MD
Julie Scott Taylor, MD, MSc
PATIENT STO RY
A 2-month-old baby girl was brought to the of ce with a severe dia-

per rash that was not getting better with Desitin. Upon examination,
the physician noted a white coating on the tongue and buccal mucosa.
The diaper area was red with skin erosions and satellite lesions
(Figure 95-1). The whole picture is consistent with candidiasis of
the mouth (thrush) and the diaper region. The child was treated with FIGURE 95-2 Pe rianal d e rmatitis cause d b y g roup A β-he mo lytic
stre p tococci. (From She th S, Sche chtman AD. Itchy p e rianal e rythe ma.
oral nystatin suspension and topical clotrimazole cream in the diaper J Fam Pract. 2007;56(12):1025-1027. Re p rod uce d with p e rmission from
area with good results. Frontline Me d ical Communications.)
INTRO DUCTIO N
Diaper rash is a general term used to describe any type of red or 1

in ammatory skin rash that is located in the diaper area.
1
SYNO NYMS 12 months, and then decreases with age until it resolves completely
with toilet training.
Diaper dermatitis, napkin dermatitis.
EPIDEMIO LO GY use, and urinary tract abnormalities.
Figures 95-2 and 95-3).
rst 2 years of life in different studies. 1

-
senting for outpatient visits. 2
FIGURE 95-3 A p ositive rap id stre p te st take n from a swab of the

p e rianal are a of the infant in the p re vious p hoto. (From She th S,
Sche chtman AD. Itchy p e rianal e rythe ma. J Fam Pract. 2007;56(12):
FIGURE 95-1 Cand id a d iap e r d e rmatitis in an infant who has oral 1025-1027. Re p rod uce d with p e rmission from Frontline Me d ical
thrush. (Use d with p e rmission from Richard P. Usatine , MD.) Communications.)
PART 14
572 CHAPTER 95
DERMATO LO GY
-
per area with a multifactorial etiology. The main cause is irritation
of thin skin as a result of prolonged contact with moisture including
feces and urine. The multiple factors involved are:
~
~ Friction and mechanical trauma.

~
~ Maceration of the stratum corneum with loss of the protective

barrier function of skin.
skin damaged from cha ng) and miliaria (heat rash) when eccrine
-
fectious, nonallergic, often asymptomatic contact dermatitis that FIGURE 95-4 Irritant d iap e r d e rmatitis p re cip itate d b y d iarrhe a se c-
ond ary to amoxicillin-clavulanate p re scrib e d to tre at otitis me d ia. Note
the ab se nce of sate llite le sio ns and how it sp are s the d e e p fold s. (Use d
diaper rashes are colonized with Candida albicans of fecal origin.
Staphylococcus aureus or Streptococcus pyogenes - TYPICAL DISTRIBUTIO N

rial isolates include Escherichia coli, Peptostreptococcus, and Bacteroides. Diaper dermatitis is primarily found on the buttocks, the genitalia,
Usually occurs during the warm summer months.
β-hemolytic Candida is sus-
streptococci (Figures 95-2 and 95-3). pected, the oropharynx should be inspected for signs of thrush, such
suspected, look at the scalp and face.

RISK FACTO RS
indicated tests that are occasionally used in more complicated cases

include potassium hydroxide preparation for fungal elements, mineral
oil preparation for scabies, complete blood count with differential, zinc
level, or skin biopsy (Figure 95-6). A rapid strep test can be used to
diagnose perianal streptococcal dermatitis (Figures 95-2 and 95-3).
DIAGNO SIS
CLINICAL FEATURES
demarcated margins on the convex skin surfaces in areas covered

by diapers. Moderate cases can have papules, plaques, vesicles, and
small super cial erosions that can progress to well-demarcated
ulcerated nodules typically with sparing of skin folds (Figure 95-4).
lesions”), involvement of the skin folds, and white scaling all

indicate a fungal infection with Candida (Figure 95-5).
impetigo in the diaper area, bullae are not usually intact but instead
present as super cial erosions.
-
FIGURE 95-5 Close -up of a Cand id a d iap e r d e rmatitis in a 5-month-
cated rash sometimes associated with blood-streaked stools old infant. Note the sup e r cial scaling around the sate llite le sions.
(Figure 95-2). (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 95-8 Erosive d iap e r d e rmatitis of Jacq ue t with b rig ht re d e ry-

FIGURE 95-6 Acro d e rmatitis e nte rop athica cause d b y zinc d e cie ncy. the ma, p unche d -out ulce rs and e le vate d nod ule s with rolle d b ord e rs.
The child also had p e rioral d e rmatitis that ap p e are d similar to the d ia- (Use d with p e rmission from We inb e rg SW, Prose NS, Kristal L, Color
p e r d e rmatitis. (Use d with p e rmission from Richard P. Usatine , MD.) Atlas of Pe d iatric De rmatolog y, 4th e d ition, Fig ure 8-42, Ne w York, NY:
McGraw-Hill, 2008.)
in ammation, candida superinfection and high potency topical ste-

DIFFERENTIAL DIAGNO SIS roids. This can resolve over the course of a few months with good
There are three distinctive severe variants of irritant diaper dermatitis: scarring and hyperpigmentation.
1. Erosive diaper dermatitis (dermatitis of Jacquet) is a severe, slow-
healing diaper dermatitis in children with persistent diarrhea. The moist, at-topped perianal lesions that occur with chronic diar-
erosions that can lead to nodular lesions with heaped-up borders rhea. They are commonly confused with the genital warts and can
(Figures 95-7 and 95-8). Figure 95-10).
2. Granuloma gluteale infantum is a rare primary diaper dermatitis
that presents with granulomatous nodules that can be large and a de ned etiology. Atopic dermatitis, seborrheic dermatitis, and pso-
raised with rolled margins (Figure 95-9 riasis are examples of rashes that can appear anywhere on the body
and can be exaggerated in the groin as a result of wearing diapers
(Figure 95-11). Family history of atopy or psoriasis and rash in other
locations besides the groin can be helpful. Look on the scalp for sebor-
FIGURE 95-9 Granuloma g lute al infantum with two larg e nod ule s in
the d iap e r are a. While the se nod ule s are b rown the y can also have a
re d or p urp lish hue . In this case , top ical ste roid s we re one factor in this
FIGURE 95-7 Erosive d iap e r d e rmatitis of Jacq ue t in an infant with nod ular g ranulomatous re sp onse . (Use d with p e rmission Kane KS, Lio
p rolong e d d iarrhe a. Note the re d e rosions and the e le vate d nod ule s. P, Stratig os AJ, Johnson RA. Color Atlas and Synop sis of Pe d iatric
(Use d with p e rmission from Richard P. Usatine , MD.) De rmatolog y, 2nd e d ition, Fig ure 3-5, McGraw-Hill, 2009.)
PART 14
574 CHAPTER 95
DERMATO LO GY
FIGURE 95-10 Pseudoverrucous papules and nodules. The at-topped

or round lesions are shiny, erythematous and moist. This unique diaper
dermatitis was originally described in the skin surrounding urostomies, but
can occur as a result of chronic diarrhea (sometimes from Hirschsprung’s
disease), encopresis or urinary incontinence. (Used with permission from FIGURE 95-12 Lang e rhans ce ll histio cytosis in the d iap e r are a. This
Weinberg SW, Prose NS, Kristal L, Color Atlas of Pediatric Dermatology, p re se nte d as a re fractory d iap e r rash with scatte re d e rythe matous p ap -
4th edition, Figure 8-45, New York, NY: McGraw-Hill, 2008.) ule s and a p e te chial comp one nt. Note the p e te chiae are p articularly
p romine nt on the lowe r ab d ome n and the e rup tion is not only con-
ne d to the d iap e r are a. A skin b iop sy re ve ale d Lang e rhans’ ce lls to
con rm the d iag nosis. (Use d with p e rmission Kane KS, Lio P, Stratig os
(Figure 95-12), and acrodermatitis enteropathica (Figure 95-6) are AJ, Johnson RA. Color Atlas and Synop sis of Pe d iatric De rmatolog y,
examples of rashes in the diaper area unrelated to the diaper. Allergic 2nd e d ition, Fig ure 3-6, McGraw-Hill, 2009.)
contact dermatitis as a result of an allergen in the diaper itself is
de ciency when the diaper dermatitis is severe and accompanied by MANAGEMENT

perioral dermatitis (Figure 95-6). The serum zinc level will be low
and zinc supplementation will be needed. TREATMENT
-
nous areas such as in the inguinal folds (Figure 95-13 possible. SO R Frequent diaper changes (as soon as they are wet
involved may be under the neck, in the axillae, or in the gluteal cleft.
The term is nonspeci c as to the etiology and one should always look SO R Frequent gentle cleaning of the affected area with luke-
for causes such as candida, seborrhea, and psoriasis. warm tap water instead of commercial wipes containing alcohol
FIGURE 95-11 Se ve re se b orrhe ic d e rmatitis in a 1-ye ar-old b o y. Note FIGURE 95-13 Inte rtrig o with b rig ht re d e rythe ma in the ing uinal
that this cond ition is not just con ne d to the d iap e r are a. The whitish- fold s. O ne should always look for the contrib uting factors in any case
ye llow scale is characte ristic of se b orrhe a and the child had involve - of inte rtrig o. Thre e e tiolog ie s to consid e r are : (1) Irritant d e rmatitis:
me nt on the che e ks and “crad le cap ” in the scalp . No sate llite p ustule s This is NO T the classic ap p e arance of an irritant from urine and fe ce s
of cand id iasis are note d . This is not irritant d e rmatitis as it d oe s not that e ffe cts oute r skin and sp are s the d e e p fold . (2) Cand id a: Note the
sp are the d e e p fold s and the d istrib ution strong ly sug g e sts se b orrhe ic p ap ule s and p ap ulove sicle s on the le ft ab d ome n and a fe w on the
d e rmatitis not cand id a d iap e r d e rmatitis, which would b e re stricte d thig hs (sate llite p ap ule s and p ap ulove sicle s) (3) Se b orrhe ic d e rmatitis:
larg e ly to d iap e r are a or othe r skin fold s. (Imag e use d with p e rmission Look on the scalp and face as this could b e a p rincip le cause of this
from Rob e rt Brod e ll, MD.) rash. (Imag e use d with p e rmission from Rob e rt Bro d e ll, MD.)
PART 14
DERMATO LO GY
and pat dry. A squeeze bottle with lukewarm water can be used to
avoid rubbing the delicate skin. PRO GNO SIS
Diaper dermatitis has an excellent prognosis when treated as previ-

helpful. 1 SO R
ously described.
after each diaper change. 1 SO R FO LLO W-UP

which, in turn, are better than creams or lotions. Avoid products
with fragrances or preservatives to minimize allergic potential. -
tion is severe bacterial infection where follow-up is recommended
should be used on top of other indicated therapies. because recurrences are common.
low-potency topical steroid such as 1 percent hydrocortisone oint- PATIENT EDUCATIO N

is gone. To avoid skin erosions, atrophy, and striae, it is best to not
go beyond 2 weeks of therapy with any topical steroid on a baby’s child’s diaper area as clean, cool, and dry as possible with frequent
bottom. diaper changes. Do not use creams that contain boric acid, camphor,
Candida, use topical nonprescription antifungal creams such as phenol, methyl salicylate, compound of benzoin, or talcum powder or
clotrimazole, miconazole after every diaper change until the rash
resolves. SO R For concomitant oral thrush, treat with oral sometimes distressing for parents and uncomfortable for children, it
is rarely dangerous.
PATIENT RESO URCES

-
Diaper Rash www.familydoctor.org/
1 familydoctor/ en/ diseases-conditions/ diaper-rash.html.
Diaper Rash–Topic Overview www.children
as bacitracin or mupirocin after every diaper change until the rash .webmd.com/ tc/ diaper-rash-topic-overview.
resolves. SO R PRO VIDER RESO URCES
Diaper Rash www.emedicine.medscape.com/
article/ 801222.
dermatitis has been reported to be predominantly caused by
S. aureus.
S. aureus and group A β REFERENCES
resistant S. aureus Diaper Rash
sulfamethoxazole. SO R
spectrum agent with antifungal, antibacterial, and antiin ammatory contributory factors in hospital attending children. Pediatr Dermatol.
to treat diaper dermatitis caused by Candida. 1 SO R Pediatr Dermatol.

SOR
a therapeutic challenge. Clin Exp Dermatol.

PREVENTIO N AND RO UTINE SKIN CARE
J Family Community Med.
integrity. perianal bacterial dermatitis: Staphylococcus aureus predominance.

- Pediatr Dermatol.
per dermatitis. SO R
derivatives, for treating and preventing napkin dermatitis in in-
fants. Cochrane Database Syst Rev.
from good quality, randomized, controlled trials to support or
refute the use and type of disposable diapers for the prevention of preventing napkin dermatitis in infants. Cochrane Database Syst Rev.
diaper dermatitis in infants. 8 SO R
PART 14
576 CHAPTER 96
DERMATO LO GY
SECTIO N 2 ACNEIFO RM DISO RDERS
96 ACNE VULGARIS
PATIENT STO RY
A 16-year-old boy (Figure 96-1) with severe nodulocystic acne and

scarring presents for treatment. After trying oral antibiotics, topical
retinoids, and topical benzyl peroxide with no signi cant bene t, the
patient and his mother request isotretinoin (Accutane). After 4 months
of isotretinoin, the nodules and cysts cleared, and there remained only
a few papules (Figure 96-2). He is much happier and more con dent
about his appearance. The skin fully cleared after the last month of
isotretinoin.
INTRO DUCTIO N
Acne is an obstructive and in ammatory disease of the piloseba-

ceous unit predominantly found on the face of adolescents. How-
ever, it can occur at any age and often involves the trunk in addition
to the face.
FIGURE 96-2 A hap p ie r b oy now that his nod ule s and cysts have
cle are d at the start of the fth month of isotre tinoin tre atme nt.
EPIDEMIO LO GY
Acne vulgaris affects more than 80 percent of teenagers, and persists

beyond the age of 25 years in 3 percent of men and 12 percent of
women. 1
The four most important steps in acne pathogenesis:

1. Sebum overproduction related to androgenic hormones and
genetics.
2. Abnormal desquamation of the follicular epithelium (keratin
plugging).
3. Propionibacterium acnes proliferation.
4. Follicular obstruction, which can lead to in ammation and follicular
disruption.
FIGURE 96-1 Se ve re nod ulocystic acne with scarring in a 16-ye ar-old Neonatal acne is thought to be related to maternal hormones and is
b oy. (Use d with p e rmission from Richard P. Usatine , MD.) temporary (Figure 96-3).
PART 14
ACNE VULGARIS 577
DERMATO LO GY
FIGURE 96-3 Neonatal acne in a healthy 2-week-old infant that resolved FIGURE 96-5 Se ve re in ammatory acne in a young ad ult. His acne
without treatment. (Used with permission from Richard P. Usatine, MD.) worse ne d whe n he was starte d on p he nytoin for his se izure d isord e r.
Acne can be precipitated by mechanical pressure as with a helmet

strap (Figure 96-4) and medications such as phenytoin and lithium consists of only comedones (Figure 96-6).
(Figure 96-5). Figure 96-7) and closed com-
There are some studies that suggest that consumption of large quanti- edones are called whiteheads and look like small papules.
ties of milk (especially skim milk) increase the risk for acne in teenagers.2
addition to comedones (Figure 96-5).
DIAGNO SIS
CLINICAL FEATURES
Face, back, chest, and neck.
Morphology of acne includes comedones, papules, pustules, nodules,
and cysts.
None unless you suspect androgen excess and/ or polycystic ovarian
3 SOR
Consider follicle-stimulating hormone (FSH) and luteinizing
FIGURE 96-4 In ammatory acne showing p ustule s and nod ule s in a FIGURE 96-6 Come d onal acne in a 15-ye ar-old g irl. O p e n come d one s
17-ye ar-old b oy who use s a he lme t while p laying footb all in hig h (b lackhe ad s) and close d come d one s (white he ad s) are visib le on he r
school. (Use d with p e rmissio n from Richard P. Usatine , MD.) fore he ad . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
578 CHAPTER 96
DERMATO LO GY
FIGURE 96-7 Come d onal acne in a 17-ye ar-old g irl. She has many
larg e op e n come d one s (b lackhe ad s). She is a ve ry g ood cand id ate for
acne surg e ry along with me d ical the rap y. (Use d with p e rmission from
DIFFERENTIAL DIAGNO SIS (INCLUDING

SPECIAL TYPES O F ACNE)
acne characterized by multiple comedones, cysts, sinus tracks, and

abscesses. The in ammatory lesions and scars can lead to signi cant
dis gurement. 4 Sinus tracks can form with multiple openings that
drain foul-smelling purulent material (Figures 96-8 and 96-9). The
comedones and nodules are usually found on the chest, shoulders,
follicular occlusion triad including hidradenitis and dissecting cellulitis

of the scalp.
cystic acne, mostly on the chest and back (Figures 96-10 and
96-11). 5 Fever, malaise, nausea, arthralgia, myalgia, and weight
loss are common. Leukocytosis and elevated erythrocyte sedimen-
tation rate are usually found. There may also be focal osteolytic
lesions. The term acne fulminans may also be used in cases of severe
aggravation of acne without systemic features. 5 B
FIGURE 96-8 A. Acne cong lob ata in a 16-ye ar-old b oy. He has se ve re
cysts on his face with sinus tracks b e twe e n the m. He re q uire d many
we e ks of oral p re d nisone b e fore isotre tinoin was starte d . His acne
commonly seen in African Americans (Figure 96-12). cle are d comp le te ly with his tre atme nt. B. Acne cong lob ata cle are d
with minimal scarring afte r oral p re d nisone and 5 months of isotre ti-
noin the rap y. (Use d with p e rmission from Richard P. Usatine , MD.)
MANAGEMENT
centrally located in the in ammatory papules of folliculitis to help Treatment is based on type of acne and severity. Categories to choose
distinguish it from acne. Acne on the back usually accompanies from are topical retinoids, topical antimicrobials, systemic antimicro-
acne on the face as well (Chapter 100, Folliculitis). bials, hormonal therapy, oral isotretinoin, and injection therapy.
MEDICATIO NS FO R ACNE THERAPY

in persons of color after shaving the hair at the nape of the neck
(Figure 96-13). and Quality found 14 had evidence of level A. 6 These comparisons
PART 14
ACNE VULGARIS 579
DERMATO LO GY
FIGURE 96-11 Acne fulminans with se ve re rap id ly worse ning truncal

acne in a 15-ye ar-old b oy. He d id not have fe ve r or b one p ain b ut had
a white b lood ce ll count of 17,000. He re sp ond e d rap id ly to p re d ni-
sone and was starte d on isotre tinoin. The ulce rs and g ranulation tissue
worse ne d initially on isotre tinoin b ut p re d nisone he lp e d to g e t this
und e r control. (Use d with p e rmission from Richard P. Usatine , MD.)
Topical:
(2.5%, 5%, 10%) 10 percent causes more irritation and is not

FIGURE 96-9 Acne cong lob ata on the face with sinus tracts and larg e more effective. 1 SO R
cystic le sions in a te e nag e male . (Use d with p e rmission from Richard P. -
Usatine , MD.)
stays of treatment.
3 SOR
demonstrated the ef cacy over vehicle or placebo control of topical
3 SOR
clindamycin, topical erythromycin, benzoyl peroxide, topical treti-
noin, oral tetracycline, and norgestimate/ ethinyl estradiol. 4 Level
A conclusions demonstrating equivalence include: Benzoyl peroxide 5 percent. 3 SOR
at various strengths was equally ef cacious in mild/ moderate acne;
adapalene and tretinoin were equally ef cacious. 6 SO R
FIGURE 96-10 Acne fulminans in a 17-ye ar-old b oy. He was on isotre t-

inoin whe n he d e ve lop e d worse ning of his acne with p olymyalg ia and
arthralg ia. He p re se nte d with nume rous nod ule s and cysts cove re d b y
he morrhag ic crusts on his che st and b ack. (From Grunwald MH, Ami-
chai B. Nod ulo-cystic e rup tion with musculoske le tal p ain. J Fam Pract. FIGURE 96-12 Pomade acne in a young African Ame rican te en that uses
2007;56:205-206, Re p rod uce d with p e rmission from Frontline Me d ical oily hair products to style her hair. Note how the acne is p red ominantly
Communications.) on the fore he ad . (Used with p ermission from Richard P. Usatine, MD.)
PART 14
580 CHAPTER 96
DERMATO LO GY
Systemic
~ -
ated, can take with food and increases sun sensitivity. 3 SOR
~
be better than other systemic antibiotics including tetracycline. 3,9

SO R
~ -
3 SOR
particularly severe and resistant cases. 3 SO R

~
a number of small poorly done studies and has not been found to
be better than oral doxycyline. 10
FIGURE 96-13 Acne ke lo id alis nuchae o n the ne ck o f a te e n that

shave s his hair in the b ack. The p atho p hysio lo g y is more re late d to a
fo lliculitis than actual acne . (Use d with p e rmissio n fro m Richard P. responded to other therapies. 3 SO R
Usatine , MD.) 1 mg/ kg per day for 5 months. Any female of childbearing potential
must be abstinent from sexual intercourse or use two forms of
discuss with patients and their parents are depression, suicide, and
5 percent. 3 SO R in ammatory bowel disease.
7 SOR
isotretinoin, patients who take isotretinoin, and pharmacists who

1 SOR
(www.ipledgeprogram.com).
1 SO R
irritation. 8 SOR effect. 3 SO R
Topical retinoids will often result in skin irritation during the similar formulations also help acne in women even though these
rst 2 to 3 months of treatment, but new systematic reviews do not
demonstrate that they worsen acne lesion counts during the initial and Yasmin have progestin drospirenone, which is derived
period of use. 2 from 17α
spironolactone.
(Figure 96-14). 3 SO R
Tea tree oil 5 percent gel. 11 SOR
ACNE PRO CEDURES
SOR Patients often report that the lesion attens and becomes
painless by the next day. Follow these directions to avoid produc-
ing skin atrophy.
~
with 0.4 mL of sterile saline in a 0.1 mL syringe to make a 2 mg/

mL suspension. Shake the suspension well before injecting.
~
30-gauge needle (Figure 96-15).
FIGURE 9 6 -1 4 O b structive o r co me d o nal acne with sp o tty hyp e r- blade before expressing the material with a comedone extractor
p ig me ntatio n. Aze laic acid was he lp ful to tre at the acne and the
hyp e rp ig me ntatio n. (Use d with p e rmissio n fro m Richard P. Usatine , (Figure 96-16). The patient in Figure 96-7 is a very good candi-
MD.) date for this procedure along with medical therapy.
PART 14
ACNE VULGARIS 581
DERMATO LO GY
FIGURE 96-17 Come d onal acne b e g inning on the fore he ad on

9-ye ar-old b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
(Figure 96-18).
Papulopustular or nodulocystic acne—moderate to
severe—in ammatory
FIGURE 96-15 Inje ction of acne nod ule s with 2 mg /cc triamcinolone
ace tonid e . (Use d with p e rmission from Richard P. Usatine , MD.)
ACNE THERAPY BY SEVERITY trunk is involved.

Comedonal acne (Figures 96-6, 96-7, 96-17)
P. acnes. Severe cystic or scarring acne
Mild papulopustular (Figure 96-19).
FIGURE 96-16 Acne surg e ry using a come d one e xtractor to re move FIGURE 96-18 Mild in ammatory acne failing to fully imp rove with
the mate rial from an op e n come d one afte r it was nicke d with a #11 top ical b e nzyl p e roxid e and e rythromycin. (Use d with p e rmission from
scalp e l b lad e . (Use d with p e rmission from Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
582 CHAPTER 96
DERMATO LO GY
effective treatment for acne by helping to minimize antibiotic

resistance. 3 SOR
tazarotene cream promotes greater ef cacy and may also enhance

tolerability. 14
can be helpful at the start of acne therapy. However, maintenance

therapy with combination tazarotene and minocycline therapy
showed a trend for greater ef cacy but no statistical signi cance
versus tazarotene alone. 15
MEDICATIO N CO ST
The most affordable medications for acne include topical benzoyl
peroxide, erythromycin, clindamycin, and oral tetracycline and
doxycycline. The most expensive acne medications are the newest
brand-name combination products of existing topical medication.
These medications are convenient for those with insurance that covers
clindamycin and tretinoin).
NEWER EXPENSIVE MO DES O F THERAPY
FIGURE 96-19 Severe nod ulo-cystic acne in a 17-year-old teen prior to special lights, and topical chemicals to treat acne. 16–18 These therapies
starting oral isotretinoin therapy. (Used with permission from Richard
P. Usatine , MD.)
are very expensive and the data do not suggest that these should be
rst-line therapies at this time. Light and laser treatments have been
shown to be of short-term bene t if patients can afford therapy and
tolerate some discomfort. These therapies have not been shown to be
Acne fulminans (Figures 96-10 and 96-11)
better than simple topical treatments. 2
Approximately 1 mg/ kg per day). 12 SOR than topical adapalene in the short-term reduction of in ammatory
lesions. 2
systemic symptoms. The duration of steroid treatment in one
Finnish series was 2 to 4 months to avoid relapses. 12 SO R
FO LLO W-UP
combined with steroids, but the role of these agents is still
uncertain. 12 SO R
be monitored every few months at rst and then once to twice a year.
4 to 6 weeks (thereafter slowly reduced to zero). 13 SOR quick follow-up visits may be disappointing.
initially at 0.5 mg/ kg daily and gradually increased to achieve

complete clearance. 13 SOR PATIENT EDUCATIO N
the oral prednisone if there are no contraindications. SOR Adherence with medication regimens is crucial to the success of the
Acne conglobata (Figures 96-8 and 96-9) may be treated like acne
fulminans but the course of oral prednisone does not need to
is not being used as a leave-on product, it can be purchased to use for
be as long. SO R
face washing.
CO MBINATIO N THERAPIES
PATIENT RESO URCES
effective than single agents. 3 SO R

PMH0001876/ .
used in combination than when either are used alone. 3 SOR
PART 14
ACNE VULGARIS 583
DERMATO LO GY

Dermatologic and mycin treatment is as effective and safe as 2-week-longer daily
Cosmetic Procedures in Of ce Practice doxycycline treatment of acne vulgaris: a randomized, double-
blind, noninferiority study. Skinmed. 2011;9:86-94.
also available as an app: www.usatinemedia.com. tea tree oil gel in mild to moderate acne vulgaris: a randomized,
double-blind placebo-controlled study. Indian J DermatolVenereol
Leprol. 2007;73:22-25.
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Clin Evid (Online). 2011 Jan
treatment of twenty-four patients. JAmAcad Dermatol. 1993;28:
5;2011. pii:1714.
572-579.
analysis of systematic reviews published in 2009-2010. Clin Exp

review of 25 cases. Br J Dermatol. 1999;141:307-309.
Dermatol. 2011;36:119-122.
of the safety and ef cacy of tazarotene 0.1% cream and

acne vulgaris management. JAmAcad Dermatol. 2007;56:651-663.
adapalene 0.3% gel in the treatment of patients with at least
- moderate facial acne vulgaris. J Drugs Dermatol. 2010;9:
bata with in iximab. JAmAcad Dermatol. 2006;55:344-346. 549-558.
5. Grunwald MH, Amichai B. Nodulo-cystic eruption with muscu- -
loskeletal pain. J Fam Pract. 2007;56:205-206. tene and minocycline maintenance therapies in acne vulgaris: a
Management of Acne. http:// www ahrq gov/ clinic/ multicenter, double-blind, randomized, parallel-group study. Arch
epcsums/ acnesum htm [serial online]. 2001. Dermatol. 2006;142:605-612.
demonstrate the ef cacy and safety of dapsone gel, 5% for intense pulsed light alone and its combination with photodynamic
the treatment of acne vulgaris. JAmAcad Dermatol. 2007;56: therapy for the treatment of facial acne in Asian skin. Lasers Surg
439-410. Med. 2007;39:1-6.
blind, randomized comparison study of the ef cacy and tolerability using 5-aminolevulinic acid versus methyl aminolevulinate.
of once-daily tazarotene 0.1% gel and adapalene 0.1% gel for the JAmAcad Dermatol. 2006;54:647-651.
treatment of facial acne vulgaris. Cutis. 2002;69(2 Suppl):4-11. 18. Horfelt C, Funk J, Frohm-Nilsson M, et al. Topical methyl amino-
laevulinate photodynamic therapy for treatment of facial acne
vulgaris: ef cacy and safety. Cochrane Database Syst Rev. 2003; vulgaris: results of a randomized, controlled study. Br J Dermatol.
2006;155:608-613.
PART 14
584 CHAPTER 97
DERMATO LO GY
97 RO SACEA
PATIENT STO RY
A 14-year-old girl presents with a red face and a history of easy facial
ushing over the last two years (Figure 97-1). Her face has become
persistently redder and she would like some treatment.
Her mom is in the room and has similar redness in her face. The family
is from northern European heritage. The girl also has developed some
“pimples.” Physical examination reveals some papules and erythema. No
comedones are seen. She knows that the sun makes it worse but nds that
many sunscreens are irritating to her skin. The patient is started on 0.75
percent metronidazole gel once daily. She agrees to wear a hat and stay FIGURE 97-2 Close -up of p ap ule s and p ustule s in a young woman with
out of the sun during the middle of the day. She will continue to look for rosace a. Note the ab se nce of come d one s. This is not acne . This is p apu-
a sunscreen she can tolerate. She knows that precipitating factors for her lop ustular rosace a. (Use d with p e rmission from Richard P. Usatine , MD.)
include hot and humid weather, alcohol, hot beverages, and spicy foods.
the face becomes reddened over the cheeks and nose and this is
often accompanied by telangiectasias and a papulopustular eruption
INTRO DUCTIO N (Figures 97-2 and 97-3).
Rosacea is an in ammatory condition of the face and eyes that
mostly affects adults but can start in childhood. Most commonly SYNO NYMS
Rosacea is also called acne rosacea.
FIGURE 9 7 -3 Clo se -up sho wing te lang ie ctasias o n the no se and

FIGURE 97-1 Rosace a in a 14-ye ar-old g irl showing e rythe ma and p ap ule s around the mouth and chin. (Use d with p e rmissio n fro m
p ap ule s. (Use d with p e rmission from Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
RO SACEA 585
DERMATO LO GY
involves nonspeci c in ammation followed by dilation around

follicles and hyperreactive capillaries. These dilated capillaries
become telangiectasias (Figures 97-5).
and sebaceous glands ensues (Figure 97-4).
Rosacea runs in families.
can happen without sun exposure.

Demodex folliculorum is
sometimes found in rosacea. 1 It is theorized that these mites play a
role because they incite an in ammatory or allergic reaction by
mechanical blockage of follicles.
RISK FACTO RS
FIGURE 97-4 Rhinop hymatous rosace a with hyp e rtrop hy of the skin of Genetics, Demodex infestation, 1 sun exposure.
the nose of a young woman with acne scarring from ad ole sce nce . The
p atie nt d e nie s he avy alcohol intake . This typ e of rosace a is ve ry rare in
child re n. (Use d with p e rmission from Richard P. Usatine , MD.)
DIAGNO SIS
CLINICAL FEATURES
EPIDEMIO LO GY Rosacea has four stages or subtypes:
1. Erythematotelangiectatic rosacea (Figure 97-5)—This stage is char-
acterized by frequent mild to severe ushing with persistent cen-
heritage. tral facial erythema.
2. Papulopustular rosacea (Figure 97-6)—This is a highly vascular
stage that involves longer periods of ushing than the rst stage,
causes rhinophymatous rosacea. However, even young women can often lasting from days to weeks. Minute telangiectasias and pap-
have rhinophymatous rosacea. (Figure 97-4). ules start to form by this stage, and some patients begin having
FIGURE 97-5 Erythematote langie ctatic sub typ e of rosacea in a Hisp anic FIGURE 97-6 Papulopustular rosacea in a young girl. (Used with permis-
g irl. (Used with p e rmission from Richard P. Usatine, MD.) sion from Jennifer Krejci-Manwaring, MD.)
PART 14
586 CHAPTER 97
DERMATO LO GY
very mild ocular complaints such as ocular grittiness or conjuncti-

vitis. These patients may have many unsightly pustules with severe
facial erythema. They are more prone to develop a hordeolum
3. Phymatous or Rhinophymatous rosacea (Figure 97-4

by hyperplasia of the sebaceous glands that form thickened con u-
ent plaques on the nose known as rhinophyma. This hyperplasia can
cause signi cant dis gurement to the forehead, eyelids, chin, and
nose. The nasal dis guration is seen more commonly in men than
-
cohol. Rhinophyma can occur without any alcohol use.
4. Ocular rosacea (Figures 97-7 and 97-8)—An advanced subtype of
rosacea that is characterized by impressive, severe ushing with
persistent telangiectasias, papules, and pustules. The patient may
complain of watery eyes, a foreign-body sensation, burning, dry-
ness, vision changes, and lid or periocular erythema. The eyelids
FIGURE 97-7 O cular rosace a in an 11-ye ar-o ld g irl showing b le p hari- are most commonly involved with telangiectasias, blepharitis, and
tis, conjunctival hyp e re mia, and te lang ie ctasias of the lid . (Use d with
p e rmission from Le wis Rose , MD.) recurrent hordeola and chalazia (Figure 97-7
be chronic. Although corneal involvement is least common, it can
-
clude punctate erosions, corneal in ltrates, and corneal neovascu-
larization. In the most severe cases, blood vessels may grow over
the cornea and lead to blindness (Figure 97-8).
Rosacea occurs on the face, especially on the cheeks and nose.
However, the forehead, eyelids, and chin can also be involved.

Not needed when the clinical picture is clear. If you are considering
lupus or sarcoid, an antinuclear antibody (ANA), chest x-ray, or
punch biopsy may be needed (Figure 97-9).
A B
B FIGURE 97-9 Biop sy p rove n rosace a in a 15-ye ar-o ld g irl. The re d rash
on he r che e ks had b e e n p re se nt for one ye ar and had not re sp ond e d
FIGURE 97-8 Ne ovascularization involving the corne a in a p atie nt with to e mp irical the rap y. The b utte r y d istrib ution of the rash and the lack
se ve re ocular rosace a that starte d in hig h school. The d iag nosis was of classic rosace a fe ature s le d the p hysician to p e rform a p unch b iop sy
misse d for ye ars and the corne al cloud ing d iminishe s he r vision. A. Sid e to e stab lish a d e nitive d iag nosis and rule out lup us. (Use d with p e r-
vie w. B. Front vie w. (Use d with p e rmission from Richard P. Usatine , MD.) mission from Richard P. Usatine , MD.)
PART 14
RO SACEA 587
DERMATO LO GY
Acne Vulgaris).
the in amed plaques can be red and resemble the in ammation of
does not. Although both cause central facial erythema, papules and
telangiectasias are present in rosacea and are not part of seborrheic
-
ally produce papules or pustules, and it spares the nasolabial folds
FIGURE 97-11 Pe riora cial d e rmatitis in a te e nag e g irl with p ap ule s,
scale and e rythe ma around the mouth and nare s. Note that the re are
patient in Figure 97-9 has a butter y distribution of her rosacea, no come d one s as se e n with acne . (Use d with p e rmission from Richard
but her biopsy clearly demonstrated the histology of rosacea. P. Usatine , MD.)
The following three diagnoses were once considered variants of rosacea

but a recent classi cation system identi ed these as separate entities:2 MANAGEMENT
the sudden appearance of papules, pustules, and nodules, along

with uctuating and draining sinuses that may be interconnecting. rosacea interventions. 3 Oral doxycycline appeared to be signi cantly
The condition appears primarily in women in their 20s, and intense more effective than placebo and there was no statistically signi cant
redness and edema also may be prominent. 2 difference in effectiveness between the 100-mg and 40-mg doses. 3
SO R They found some evidence to support the effectiveness of
topical metronidazole (0.75% or 1%), azelaic acid (15% or 20%)
can occur as an in ammatory response in any patient during or for the treatment of moderate to severe rosacea.3 SO R
after chronic corticosteroid use. The same in ammatory response ophthalmic emulsion was signi cantly more effective than arti cial tears
may also occur in patients with rosacea. for treating ocular rosacea (for all outcomes).3 SO R
-
ed as a variant of rosacea. Perioral dermatitis is characterized with topical metronidazole (0.75% or 1%) or topical azelaic acid
by microvesicles, scaling, and peeling around the mouth (15% or 20%). 3
(Figure 97-10). Periora cial dermatitis is the same condition but ~ There are no substantial differences between topical metronida-
may involve the skin around the nares and eyes (Figure 97-11). zole of 0.75 percent and 1 percent, or between once daily and
twice daily regimens. 4 Metronidazole cream, gel, and lotion have
similar ef cacies as well. 4
modest bene ts over 0.75 percent metronidazole gel in a manufac-

turer-sponsored study. 4 Azelaic acid was not as well tolerated, so
both medications are reasonable options with the choice depending
on patient preference and tolerance. 3 SO R One study found that
once-daily azelaic acid 15 percent gel was as effective as twice-daily
application, which can translate into a signi cant cost saving. 5
-
ycycline (40 mg or 100 mg daily) is recommended. 3 SO R
attempting to avoid the photosensitivity side effects of doxycycline
it is reasonable to prescribe oral tetracycline (250 mg to 500 mg
daily) or oral metronidazole (250 mg to 500 mg daily). SO R
be switched to topical agents such as metronidazole or azelaic acid

for maintenance.
FIGURE 97-10 Pe rioral d e rmatitis in this 13-ye ar-old b oy with
microve sicle s, scaling , and p e e ling around the mouth. (Use d with Demodex mite may be one causative agent in rosacea. One study
p e rmission from Richard P. Usatine , MD.) found permethrin 5 percent cream to be as effective as metronidazole
PART 14
588 CHAPTER 97
DERMATO LO GY
0.75 percent gel and superior to placebo in the treatment of rosa- PRO VIDER RESO URCES
cea. 5 SO R
-
rials that are geared for physicians—www.rosacea.org/ .
treatments can be treated with oral isotretinoin at a low dose of
0.3 mg/ kg per day. SO R
REFERENCES
treat the telangiectasias associated with rosacea. SO R
Arch
laser. Isotretinoin is also used to treat rhinophyma. SO R Dermatol.
-
clines, lid hygiene, and warm compresses. 1 SO R Topical oph-
thalmic cyclosporine 0.05 percent (Restasis) is more effective than J Am Acad Dermatol.
arti cial tears for the treatment of rosacea-associated lid and corneal
changes. 7 SO R Ocular rosacea that involves the cornea should be
immediately referred to an ophthalmologist to prevent blindness Cochrane Database Syst Rev.
(Figure 97-8).
rosacea: do formulation, dosing, and concentration matter? J Drugs
Dermatol.
FO LLO W-UP
cream versus metronidazole 0.75% gel for the treatment
of papulopustular rosacea. A randomized double-blind
placebo-controlled study. Dermatology.
noin in the treatment of rosacea—doxycycline- and placebo-
Sun protection, including use of a hat and daily application of sun- controlled, randomized clinical study. J Dtsch Dermatol Ges. 2010;
-
ing and protects against UVA and UVB rays. Advise patients to keep a
diary to identify and avoid precipitating factors such as hot and humid for the treatment of ocular rosacea. Adv Ther.
weather, alcohol, hot beverages, spicy foods, and large hot meals.
PATIENT RESO URCES
people with rosacea by raising awareness, providing public

health information, and supporting medical research—
www.rosacea.org/ .
PART 14
HIDRADENITIS SUPPURATIVA 589
DERMATO LO GY
98 HIDRADENITIS SYNO NYMS

SUPPURATIVA It is called acne inversa because it involves intertriginous areas and
Richard P. Usatine , MD not the regions affected by acne (similar to inverse psoriasis).
EPIDEMIO LO GY
PATIENT STO RY
1
A 17-year-old teenager presents with new tender lesions in her axilla

that started during her period 2 weeks ago (Figure 98-1). She has may be associated with menses. 1
had two similar outbreaks in the axilla the year before. The clinician
determined that the diagnosis was a mild case of hidradenitis suppura-
tiva with folliculitis as an alternative diagnosis to be considered. The ETIO LO GY AND PATHO PHYSIO LO GY
patient was started on doxycycline 100 mg twice daily and the condi-
tion cleared within 1 month. The patient was also a one pack per day
smoker and she agreed to quit smoking for her health and to decrease bearing skin. 1
her risk of further outbreaks of hidradenitis.
surrounding apocrine glands.
INTRO DUCTIO N
Hidradenitis suppurativa (HS) is an in ammatory disease of the pilose-

baceous unit in the apocrine gland-bearing skin. HS is most common
in the axilla and inguinal area, but may be found in the inframammary RISK FACTO RS
area as well. It produces painful in ammatory nodules, cysts, and
sinus tracks with mucopurulent discharge and progressive scarring.
DIAGNO SIS
CLINICAL FEATURES
in axillae (Figures 98-1 and 98-2).
with or without drainage, over 10 to 30 days. 1
FIGURE 98-2 Hid rad e nitis in a young woman. The le sions are d e e p e r
FIGURE 98-1 Mild hid rad e nitis sup p urativa in the axilla. She has a and the re have b e e n some chronic chang e s with scarring and b rosis
history of re curre nt le sions in he r axilla. (Use d with p e rmission from from p re vious le sions. (Use d with p e rmission from Richard P. Usatine ,
Richard P. Usatine , MD.) MD.)
PART 14
590 CHAPTER 98
DERMATO LO GY
FIGURE 98-4 Long -stand ing p ainful se ve re HS b e twe e n the b re asts of

this woman. (Use d with p e rmission from Richard P. Usatine , MD.)
B
abscess, and cellulitis, may resemble HS but are less likely to be
FIGURE 98-3 Se ve re re calcitrant hid rad e nitis in this woman with sinus recurrent in the intertriginous areas.
tracts and scarring . A. Axillary involve me nt. B. Inframammary involve -
me nt. (Use d with p e rmission from Richard P. Usatine , MD.)
Theses cysts contain malodorous keratin contents.
transmitted infections that can produce inguinal ulcers and adenop-

lesions form as old ones heal. athy that could be mistaken for HS.
-
otic treatment. MANAGEMENT
Figures 98-3).
obesity is present. SO R
isolation. -
mended for many reasons. 1 See SO R for HS and SO R for
TYPICAL DISTRIBUTIO N other health reasons.
Figure 98-4),
inframammary, pubic area (Figure 98-5), infraumbilical midline,
gluteal folds, top of the anterior thighs, and the perianal region. 1
LABO RATO RY STUDIES tetracyclines, clindamycin, rifampin, and dapsone have been
S. aureus
present, trimethoprim/ sulfamethoxazole or clindamycin should
useful if you suspect methicillin-resistant Staphylococcus aureus. be used.
PART 14
HIDRADENITIS SUPPURATIVA 591
DERMATO LO GY
~ -
ever, in one study only 38 percent of patients experienced
improvement. SO R Rapid recurrence after stopping treat-
ment suggests that antiin ammatory effects may predominate
over antimicrobial effects. The total effect appears to be smaller
than that reported with combination therapy using clindamycin
and rifampicin. The use of oral dapsone requires frequent moni-
toring of blood counts because it frequently causes hemolysis. A
not at high risk for severe hemolysis.
is not a reliable cure for HS. SO R Also it is a potent teratogen

and best avoided for females with this indication.
A 9 patients, with no recurrence of lesions after 6 months (n = 1),

1 year (n = 3), more than 2 years (n = 2), more than 3 years (n = 2),
= 1). SO R However, acitretin is an
oral retinoid that causes birth defects and may remain in the body
for 3 years. Therefore, it should be reserved for use in male adoles-
cents only and strictly avoided in females of child-bearing
potential.
severe, recalcitrant HS. In one series, in iximab therapy (weight

based) was shown to be effective and well tolerated in 6 of
7 patients with HS who were resistant to previous therapy. 6 This
6 SO R
Adalimumab helps in the short-term, but no long-term curative

effect was uniformly seen. 7
B patients who can afford the cost and time for treatment. In one
study of 18 patients who were randomized to treatment of one
FIGURE 98-5 Hid rad e nitis of the ing uinal are a and vulva. A. p re p ub e r-
tal. (Used with permission from Weinberg SW, Prose NS, Kristal L, Color
Atlas of Pediatric Dermatology, 4th edition, Figure 2-30, New York, NY: -
McGraw-Hill, 2008.) B. te e nag e r. (Use d with p e rmission from Richard
P. Usatine , MD.) 8 SO R
antibiotics to be of great help. SO R

SO R
-
clines did not show better results than topical therapy with clinda- uctuant abscesses that can occur in HS. Although this may give
mycin. 1 SO R some relief of the pressure, the surgical treatment and repacking
~ of the wound is painful, and there is no evidence that it speeds
rifampin (600 mg daily) is recommended for patients with more healing. SO R
severe HS. 2,3 In a series of 116 patients, parameters of severity
improved, as did the quality-of-life score. 2 In another study, 28 of recommended.
3
The maximum effect of used for recalcitrant disabling disease and should be individualized
based on the stage and location of the disease. 9 SO R -
cal group has been using a medial thigh lift for immediate defect
closure after radical excision of localized inguinal hidradenitis. 10
with severe disease. The most frequent side effect is diarrhea. 2,3
PART 14
592 CHAPTER 98
DERMATO LO GY
a series of 116 consecutive patients. Dermatology.

FO LLO W-UP
If there is cellulitis or a large abscess was drained, follow-up should

combined treatment with oral clindamycin and oral rifampicin
in patients with hidradenitis suppurativa. Dermatology.
with appointments every 3 to 6 months depending upon the treat-
ment and its success.
Dermatology.
PATIENT EDUCATIO N
Smoking cessation, weight loss if overweight, and avoidance of tight- hidradenitis suppurativa. Is acne inversa also a misnomer?
Br J Dermatol.
PATIENT RESO URCES

www.nlm.nih in ammatory markers. Acta DermVenereol.
.gov/ medlineplus/ hidradenitissuppurativa.html.
placebo-controlled randomized trial of adalimumab in the
PRO VIDER RESO URCES treatment of hidradenitis suppurativa. Br J Dermatol.
391-398.
overview. -
Plast Reconstr Surg.
REFERENCES Surgery.
tetracycline in the treatment of hidradenitis suppurativa. JAm -

Acad Dermatol. purativa of the groin treated by radical excision and defect closure
- -
gery. J Plast Reconstr Aesthet Surg.
PART 14
IMPETIGO 593
DERMATO LO GY
SECTIO N 3 BACTERIAL
99 IMPETIGO admitted to a hospital and treated with intravenous clindamycin

with good results. 1
INTRO DUCTIO N
PATIENT STO RIES Impetigo is the most super cial of bacterial skin infections. It causes
honey crusts, bullae, and erosions.
A young boy presented to the of ce with a 3-day history of an
untreated skin infection on his ear (Figure 99-1). His mother states
that he has had white spots on his face for the past year but does not EPIDEMIO LO GY
know how the ear infection started. The clinician noted honey crusts
and purulent drainage from the lower pinna and pityriasis alba on the
face. The child was not febrile and was behaving normally. Oral patients of any age.
cephalexin was prescribed for the impetigo and 1 percent hydrocorti-
sone ointment was given for the p. alba. Washing and hygiene issues ~ Seen often in developing countries in persons living without easy
were discussed to avoid spreading the infection within the household. access to clean water and soap.
During the 1-week follow-up appointment the impetigo was gone
and the p. alba was improving.
An 11-year-old-child presented with a 5-day history of a skin
lesion that started after a hiking trip (Figure 99-2). This episode
of bullous impetigo was found to be secondary to methicillin-
resistant Staphylococcus aureus (MRSA). The lesion was rapidly
S. aureus and/ or group A β -hemolytic
progressive and was developing a surrounding cellulitis. She was
Streptococcus (GABHS).
S. aureus and is less
common than the typical crusted impetigo.
abrasion, or dermatitis.
FIGURE 99-2 Bullous imp e tig o se cond ary to me thicillin-re sistant

Stap hylococcus aure us (MRSA) on the le g of an 11-ye ar-old child . Note
the surro und ing ce llulitis. (With p e rmission from Stud d iford J, Stone -
house A. Bullous e rup tion on the p oste rior thig h 1. J Fam Pract.
FIGURE 99-1 Typ ical hone y-cruste d p laq ue on the e ar of young b oy 2005;54:1041-1044. Re p rod uce d with p e rmission from Frontline
with imp e tig o. (Use d with p e rmission from Richard P. Usatine , MD.) Me d ical Communications.)
PART 14
594 CHAPTER 99
DERMATO LO GY
FIGURE 99-3 Wid e sp re ad imp e tig o with hone y-cruste d e rythe matous FIGURE 99-5 Bullous imp e tig o around the mouth of a young b oy that
le sions on the b ack of a 7-ye ar-old child . (Use d with p e rmission from p rog re sse d to d e sq uamation of the skin on his hand s and fe e t. (Use d
Richard P. Usatine , MD.) with p e rmission from Richard P. Usatine , MD.)
CULTURE
DIAGNO SIS
CLINICAL FEATURES
Figure 99-1
Figure 99-3 DIFFERENTIAL DIAGNO SIS
Figure 99-4 Figures 99-5 99-7).
TYPICAL DISTRIBUTIO N Figures 99-10 99-11

Figures 99-1, 99-4 99-6 99-8
Figures 99-2 99-9
FIGURE 99-4 Imp e tig o on the le g of a g irl in Haiti. Note the e cthyma FIGURE 99-6 Bullous imp e tig o on the face of a 14-ye ar-old g irl.
(ulce rate d imp e tig o) on the mid -thig h. (Use d with p e rmission from Me thicillin-re sistant Stap hylococcus aure us was culture d fro m the
Richard P. Usatine , MD.) imp e tig o. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
IMPETIGO 595
DERMATO LO GY
FIGURE 99-7 Bullous imp e tig o on the ab d ome n of an 8-ye ar-old b oy.
FIGURE 99-9 Imp e tig o se cond ary to e a b ite s on the le g s of a young

g irl. (Use d with p e rmission from Richard P. Usatine , MD. Pre viously
- p ub lishe d in the We ste rn Journal of Me d icine .)
Figure 99-10
FIGURE 99-8 Imp e tig o on the face and ne ck of an infant. (Use d with FIGURE 99-10 Atop ic d e rmatitis comp licate d b y se cond ary imp e tig i-
p e rmission from Richard P. Usatine , MD.) nization. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
596 CHAPTER 99
DERMATO LO GY
FIGURE 99-11 Bullous imp e tig o on the trunk of a 6-month-old Ethio-

p ian child that re se mb le s he rp e s zoste r in its d istrib ution and morp hol-
og y. Howe ve r, the re are le sions on b oth sid e s of the b ack and the child FIGURE 99-12 Stap hylococcal scald e d skin synd rome in a young
is ve ry young to have had varice lla and now zoste r. (Use d with p e rmis- child . A se ve re form o f b ullous imp e tig o with larg e are as of skin e xfo-
sion from Richard P. Usatine , MD.) liation. Note the p romine nt involve me nt o f the ne ck as this cond ition
te nd s to involve are as with skin fold s. (Use d with p e rmission from
impetigo. See Figure 99-11 for a case of bullous impetigo that

the treatment of impetigo in children cultured with MRSA and
prescribe intranasal mupirocin ointment and chlorhexidine bathing

to decrease MRSA colonization. 5 SO R
exposure to allergens such as poison ivy. Acute lesions are erythem-
PREVENTIO N
infected with bacteria (impetiginized) (Figure 99-9).

wash clothes.
the skin susceptible to secondary infection.
of acute exfoliation of the skin caused by an exotoxin from a FO LLO W-UP

staphylococcal infection. This condition is seen almost entirely
in infants and young children (Figure 99-12 Arrange follow-up based on severity of case and the age and immune
Staphylococcal Scalded Skin Syndrome). status of the patient.
MANAGEMENT PATIENT EDUCATIO N
Discuss hygiene issues and how to avoid spread within the household
effective than oral treatment for people with limited impetigo. or other living situations such as homeless shelters.
SO R Mupirocin also covers MRSA.
that cover GABHS and S. aureus, such as cephalexin or dicloxacil- REFERENCES

lin. 3 SO R 1. Studdiford J, Stonehouse A: Bullous eruption on the posterior
thigh 1. J Fam Pract.
children (Figures 99-2 and 99-6) or adults. -
- tions for impetigo. Cochrane Database Syst Rev
ing oral antibiotics: trimethoprim-sulfamethoxazole, clindamycin,
SO R the diagnosis and management of skin and soft-tissue infections.
Clin Infect Dis.
PART 14
IMPETIGO 597
DERMATO LO GY
- controlled, double-blind clinical trial. Infect Control Hosp Epidemiol.

munity- and health care-associated methicillin-resistant Staphylococ-
cus aureus infection. JAMA. -
azole compared with benzathine penicillin for treatment of impe-
body washing with chlorhexidine for the eradication of tigo in aboriginal children: a pilot randomised controlled trial.
methicillin-resistant Staphylococcus aureus: a randomized, placebo- J Paediatr Child Health.
PART 14
598 CHAPTER 100
DERMATO LO GY
100 FO LLICULITIS
Khalilah Hunte r-And e rson, MD
PATIENT STO RY
A young girl is seen for multiple papules and pustules on her lower
abdomen (Figure 100-1). Further questioning demonstrates that she
was in a friend’s hot tub twice over the previous weekend. The out-
break started after she went into the hot tub the second time. This is
a case of Pseudomonas folliculitis or “hot tub” folliculitis. The patient
avoided this hot tub and the folliculitis disappeared spontaneously.
FIGURE 100-2 Close -up of b acte rial folliculitis showing hairs coming
throug h p ustule s. A culture g re w out Stap hylococcus aure us. (Use d
INTRO DUCTIO N with p e rmission from Richard P. Usatine , MD.)
Folliculitis is an in ammation of hair follicles usually from an infec-

tious etiology. Multiple species of bacteria have been implicated, as “razor bumps” and can start in the teen years with the onset of
well as fungal organisms. shaving.
EPIDEMIO LO GY black patients, but can be seen in patients of any ethnic background
(Figures 100-4 and 100-5). 2 Like pseudofolliculitis barbae, it is
exacerbated by shaving.
races, and both genders. Staphylococcus aureus (MRSA) can pose a
challenge to the treatment of folliculitis (Figure 100-6).
-
rial origin (Figure 100-2).
1
and made worse by shaving (Figure 100-3).
in ammation spans the entire depth of the follicle.
FIGURE 100-1 “Hot-tub ” folliculitis from Pse ud omonas ae rug inosa in FIGURE 100-3 Pse ud ofolliculitis b arb ae in a young b lack man. Also
a hot tub . The folliculitis te nd s to b e d istrib ute d und e r or around the known as “razor b ump s” this starte d in his te e n ye ars with the onse t of
b athing suit. (Use d with p e rmission from Danie l Stulb e rg , MD.) shaving . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
FO LLICULITIS 599
DERMATO LO GY
FIGURE 100-6 MRSA folliculitis in the axilla of a young woman. The

FIGURE 100-4 Acne ke loid alis nuchae with in ame d p ap ule s and p us- le sions we re p re se nt for 4 we e ks in the axilla, le ft fore arm, and rig ht
tule s on the ne ck of a young Hisp anic man. (Use d with p e rmission from thig h. The MRSA was se nsitive to te tracycline s and re solve d with oral
Richard P. Usatine , MD.) d oxycycline . (Use d with p e rmissio n from Plotne r AN, Brod e ll RT.
Bilate ral axillary p ustule s. J Fam Pract. 2008;57(4):253-255.)
S. aureus is by
far the most common bacterial causative agent.
(Demodex). These are usually seen on the face, nose, and back and
typically cause an eosinophilic pustular-like folliculitis. 1
be caused by chemical irritants or physical injury.
the scalp, leading to hair loss or alopecia (Figure 100-8).
opening to the pilosebaceous unit and cause folliculitis. Staphylococci infection is the usual causative agent, but there
also has been a suggested genetic component to this condition. 1
Staphylococcus folliculitis typically presents as -
infected pustules most prominent on the face, buttocks, trunk, or licles will have many hairs growing from them simultaneously
- (Figure 100-9).
ment of furuncles or boils (Figure 100-7
result of mechanical injury or via local spread from nearby infected
wounds. An area of desquamation is frequently seen surrounding posterior neck that can be extensive and lead to keloidal tissue and
infected pustules in S. aureus folliculitis. 1–3 alopecia (Figures 100-4 and 100-5). 1–3
FIGURE 100-5 Acne ke loid alis nuchae with in ame d p ap ule s and
p ustules on the posterior neck and scalp of a young African American
man who shaves his head . (Use d with p ermission from Richard FIGURE 100-7 Isolate d sing le furuncle . (Use d with p e rmission from
P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
600 CHAPTER 100
DERMATO LO GY
FIGURE 100-8 Early folliculitis d e calvans showing scalp in ammation,

p ustule s around hair follicle s and scarring alop e cia. (Use d with p e rmis-
-
quently. Tinea capitis infections are a form of dermatophytic follicu-
litis (see Chapter 122, Tinea Capitis). Pityrosporum folliculitis is
caused by yeast infection (Malassezia species) and is seen in a similar
distribution as bacterial folliculitis on the back, chest, and shoulders
(Figure 100-10; see Chapter 126, TineaVersicolor). Candidal infection
is less common and is usually seen in individuals who are immuno-
suppressed, present in hairy areas that are moist, and unlike most
cases of folliculitis, may present with systemic signs and symptoms. 1–4
Pseudomonas folliculitis or “hot tub” folliculitis is usually a self-
limited infection that follows exposure to water or objects that are
B
contaminated with Pseudomonas aeruginosa (Figure 100-1). This
occurs when hot tubs are inadequately chlorinated or brominated. FIGURE 100-10 A. Pityrosp orum folliculitis on the che st, should e rs,
This also occurs when loofah sponges or other items used for bath- and arms of a young man; b iop sy p rove n. B. Pityrosp orum folliculitis on
the che st of a young woman. KO H p re p aration showe d Pityrosp orum
ing become a host for pseudomonal growth. Onset of symptoms looking like ziti and me atb alls. (Use d with p e rmission from Richard P.
Usatine , MD.)
is usually within 6 to 72 hours after exposure, with the complete

resolution of symptoms in a couple of days, provided that the indi-
vidual avoids further exposure. 4
-
ria that most typically occurs in individuals who have been on long-
term antibiotic therapy, usually those taking oral antibiotics for
acne. The most frequently encountered infective agents include
Klebsiella, Escherichia coli, Enterobacter, and Proteus. 5
hair shaft reenters the skin (ingrown hairs), and is seen on the
cheeks and neck as a result of curled ingrown hair. 2
occur in females with hirsutism who shave or pluck their hairs.
molluscum contagiosum. 4 Herpetic folliculitis is seen primarily in

FIGURE 100-9 Tufte d folliculitis with visib le tufts of hair (multip le hairs
from one follicle ) g rowing from a numb e r of ab normal follicle s. This is
one e xamp le of scarring alop e cia. (Use d with p e rmission from Richard
6
P. Usatine , MD.) The expression of herpes folliculitis in
PART 14
FO LLICULITIS 601
DERMATO LO GY
ulcerative lesions. Molluscum is a pox virus and molluscum conta-

giosum has been well-documented in similar patient populations
Simplex and 115, Molluscum Contagiosum). 6–7
predominantly in warm climates or during hot or summer months.
trunk, and upper arms, usually within 6 to 36 hours after sun

exposure. 8
DIAGNO SIS
Often the diagnosis of folliculitis is based on a good history and physical.
CLINICAL FEATURES FIGURE 100-11 Miliaria in a 16-month-old child . This is an in amma-

tion and b lockag e of the e ccrine swe at g land s and not the p ilose b a-
Folliculitis has its characteristic presentation as the development of ce ous units as se e n in folliculitis. (Use d with p e rmission from Richard P.
papules or pustules that are thin-walled and surrounded by a margin Usatine , MD.)
of erythema or in ammation. Look for a hair at the center of the
lesions (Figure 100-2). There is usually an absence of systemic signs
and patients, symptoms range from mild discomfort and pruritus to into folliculitis if lesions become infected (see Chapter 130, Atopic
1
severe pain with extensive involvement.
-
TYPICAL DISTRIBUTIO N ules, pustules, and nodules that are a result of follicular hyperprolif-
Any area of the skin may be affected and often location may be
related to the pathogen or cause of folliculitis. The face, scalp, neck, when Propionibacterium acnes and other in ammatory substances get
trunk, axillae, extremities, and groin are some of the more common extruded from the blocked pilosebaceous unit. Although acne on the
areas affected. face is rarely confused with folliculitis, acne on the trunk can resem-
ble folliculitis. To distinguish between them look for facial involve-
LABO RATO RY TESTS ment and comedones seen in acne (see Chapter 96, Acne Vulgaris).
and where the history is clear and quick resolution occurs. Clinical MANAGEMENT
-
sis may be made based on strong clinical suspicion or as a result of
failed antimicrobial therapy. KOH preps can be used to look for tinea pathophysiology.
versicolor or other fungal organisms. Herpes culture or a quick test
for herpes can be used when herpes is suspected. 1 SO R
systemic agents. Approaches to nonpharmacologic therapy include
patient education on the prevention of chemical and mechanical
folliculitis. 1–3
Miliaria is blockage of the sweat glands that can resemble the small recurrence.
papules of folliculitis (Figure 100-11). The eccrine sweat glands -
become blocked so that sweat leaks into the dermis and epidermis. -
1 SO R
Clinically, skin lesions may range from clear vesicles to pustules. These Additionally, topical clindamycin may be consid-
skin lesions primarily occur in times of increased heat and humidity, ered in the mildest cases in which MRSA is involved. 1 SO R
and are self-limited (see Chapter 92, Normal Skin Changes). 1
- -
- -
lones. 1,4 SO R
honey-crusted lesions frequently predominate as opposed to the
4
within a week of onset (Figure 100-1). For severe cases, treat-
ment with cipro oxacin provides adequate antipseudomonal
buildup of keratin in the openings of hair follicles, especially on the coverage. 1,4 SO R Application of a warm compress to affected
areas also provides symptomatic relief.
PART 14
602 CHAPTER 100
DERMATO LO GY
the chemicals should be maintained appropriately. Electric razors for

shaving can help prevent pseudofolliculitis barbae and should be
should avoid shaving the hair in the involved area.
PATIENT RESO URCE

PMH0001826/ .
PRO VIDER RESO URCE

REFERENCES
FIGURE 100-12 Miliaria crystallina in which the b lockag e of the
e ccrine swe at g land s le ad s to small sup e r cial crystalline ve sicle s.
1. Luelmo-Aguilar J, Santandreu MS. Folliculitis recognition and
(Use d with p e rmission from John Browning , MD.) management. Am J Clin Dermatol. 2004;5(5):301-310.
2. Habif T. Clinical Dermatology
-
quamation, a clue to the diagnosis of folliculitis and furunculosis
containing azoles, selenium, or zinc (Figure 100-12) (see caused by Staphylococcus aureus. J Am Acad Dermatol. 2006;55(6):
Chapter 126, Tinea Versicolor). 9 1079-1080.
-
treated with oral itraconazole or uconazole (see Chapter 121, fections. Am Fam Physician. 2002;66(1):119-124.
Candidiasis). 1 SO R
Demodex folliculitis can be treated with ivermectin or topically with Int J
5 percent permethrin cream. 4 SO R Dermatol. 1999;38(4):270-274.
histopathological, and molecular pathologic observations. Br J

times a day for 5 days (see Chapter 114, Herpes Simplex).1 SOR Dermatol. 2006;154(4):743-746.
Atypical presentations of herpes simplex, herpes zoster, and

FO LLO W-UP molluscum contagiosum. Arch Dermatol. 1997;133(8):983-986.
-
folliculitis. Br J Dermatol. 1998;138(6):1070-1074.
cases of chronic folliculitis with scarring.
Malassezia species. J Am Acad Dermatol. 2004;51(5):785-798.
PATIENT EDUCATIO N
PART 14
PITTED KERATO LYSIS 603
DERMATO LO GY
101 PITTED KERATO LYSIS ETIO LO GY AND PATHO PHYSIO LO GY

Michae l Bab cock, MD
Kytococcus sedentarius (formerly Micrococcus spp.), Corynebacterium
species, and Dermatophilus congolensis have all been shown to cause
pitted keratolysis. 3
clinical appearance.
PATIENT STO RY
A 17-year-old boy comes to the of ce with a terrible foot odor sulfur byproducts. 3
problem. He is wearing cowboy boots and he says that his feet are
always sweaty. He is embarrassed to remove his boots, but when his DIAGNO SIS
mother convinces him to do so the odor is unpleasant. The clinician
sees the typical pits of pitted keratolysis and notes that the boy’s CLINICAL FEATURES
socks are moist. His foot has many crateriform pits on the sole
Pitted keratolysis usually presents as painless, malodorous, crateri-
(Figure 101-1). He is prescribed topical erythromycin solution for
form pits coalescing into larger super cial erosions of the stratum
the pitted keratolysis and topical aluminum chloride for the hyperhi-
corneum (Figures 101-1 to 101-4). It may be associated with itching
drosis. It is suggested that he wear a lighter and more breathable
and a burning sensation in some patients (Figure 101-3).
shoe until this problem improves.
Pitted keratolysis usually involves the callused pressure-bearing areas
INTRO DUCTIO N of the foot, such as the heel, ball of the foot, and plantar great toe. It
can also be found in friction areas between the toes.
Pitted keratolysis is a super cial foot infection caused by Gram-
positive bacteria. These bacteria degrade the keratin of the stratum LABO RATO RY STUDIES
corneum leaving visible pits on the soles of the feet. Typically a clinical diagnosis, but biopsy will reveal keratin pits lined
by bacteria.
EPIDEMIO LO GY DIFFERENTIAL DIAGNO SIS
Characteristic clinical features make the diagnosis easy, but it is

possible to have other diseases causing plantar pits:
FIGURE 101-1 Many crate riform p its on the he e l of the foot with p it- FIGURE 101-2 Pitte d ke ratolysis on the p re ssure -b e aring are as of the
te d ke ratolysis and hyp e rhid rosis. (Use d with p e rmission from Richard toe s and the b all of the foo t. (Use d with p e rmission from Richard P.
P. Usatine , MD.) Usatine , MD.)
PART 14
604 CHAPTER 101
DERMATO LO GY
FIGURE 101-5 Pitte d ke ratolysis with small crate riform p its on the b all
of the foot. This te e n also had hyp e rhid rosis, which was simultane ously
tre ate d with aluminum chlorid e . Tre atme nt of the hyp e rhid rosis p re -
ve nte d re curre nce of the p itte d ke ratolysis. (Use d with p e rmission from
FIGURE 101-3 Pitte d ke ratolysis with hyp e rp ig me nte d crate rifo rm p its
on the p re ssure -b e aring are as of the foot. The p atie nt comp laine d of
itching and b urning on the fe e t. (Use d with p e rmission from Richard P.
Usatine , MD.)
MANAGEMENT
ring around a soft core with small black dots from thrombosed cap-
illaries (see Chapter 119, Plantar Warts). environment in which the bacteria thrive. Various topical antibiot-
ics are effective for pitted keratolysis.
lines on the ngernails), or other nail disorders. twice daily until the condition resolves. SO R
and skin lesions.

SO R
therapy fails. SO R
recurrence (Figure 101-5). This can be done with topical aluminum

chloride of varying concentrations. SO R
aluminum chloride solution and can be prescribed with an
applicator top.
-
ment for hyperhidrosis. 6 SO R It should be reserved for treat-
ment failures because of the cost, the discomfort of the multiple
FO LLO W-UP
Follow-up is needed for treatment failures, recurrences, and the

treatment of underlying hyperhidrosis if present. Follow-up
can be performed annually for prescription aluminum chloride
FIGURE 101-4 Pitte d ke ratolysis with many crate riform p its on the
he e l. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
PITTED KERATO LYSIS 605
DERMATO LO GY
REFERENCES
PATIENT EDUCATIO N
Indian J
Patients should be taught about the etiology of this disorder to help
Dermatol Venereol Leprol.
avoid recurrence. Helpful preventive strategies include avoiding
occlusive footwear and using moisture-wicking socks or changing Sports Med.
sweaty socks frequently.
Dermatology
PATIENT RESO URCES

www.sweathelp.org. Br J Dermatol.
PRO VIDER RESO URCES the organism associated with pitted keratolysis, produces two
Pitted Keratolysis http:// emedicine.medscape J Appl Microbiol.
.com/ article/ 1053078-overview. -
Int J Dermatol.
PART 14
606 CHAPTER 102
DERMATO LO GY
102 ERYTHRASMA ism invades and proliferates the upper 1/ 3 of the stratum
-
Anna Allre d , MD corneum.

Mind y A. Smith, MD, MS uorescence seen under a Wood lamp (Figure 102-2).
RISK FACTO RS1

PATIENT STO RY
A 12-year-old Hispanic girl, accompanied by her mother, presents with

a 1-year history of a red irritated rash in both axillae (Figure 102-1).
She has been seen by multiple physicians and has tried many antifungal
creams with no results. Even hydrocortisone did not help. She had
stopped wearing deodorant for fear that she was allergic to all deodor-
ants. Although the rash barely uoresced at all, the physical examina-
tion and history were most consistent with erythrasma. The patient
was given a prescription for oral erythromycin and the erythrasma
cleared to the great delight of the patient and her mother.
DIAGNO SIS
INTRO DUCTIO N
CLINICAL FEATURES
Erythrasma is a chronic super cial bacterial skin infection that usually
occurs in a skin fold. slightly scaling patches. Some lesions appear redder, whereas oth-
ers have a browner color (Figures 102-3 and 102-4).
EPIDEMIO LO GY -
times complain of itching and burning when lesions occur in the
1 groin (Figure 102-3).
Erythrasma is characteristically found in the intertriginous areas,
ETIO LO GY AND PATHO PHYSIO LO GY found in the interspaces of the toes, intergluteal cleft, perianal skin,
and inframammary area.
Corynebacterium minutissimum, a lipophilic Gram-positive non–spore-
forming rod-shaped organism, is the causative agent.
FIGURE 102-2 Coral re d uo re sce nce se e n with a Wood lamp he ld in

FIGURE 102-1 Erythrasma in the axilla of a 12-ye ar-old Hisp anic g irl. the axilla of a p atie nt with e rythrasma. (Use d with p e rmission from the
(Use d with p e rmission from Richard P. Usatine , MD.) Unive rsity of Te xas He alth Scie nce s Ce nte r, Division of De rmatolog y.)
PART 14
ERYTHRASMA 607
DERMATO LO GY
The best way to distinguish psoriasis from erythrasma is to look for

other clues of psoriasis in the patient, including nail pitting or ony-
Also, inverse psoriasis may be seen in the intergluteal cleft as well

as below the breasts or pannus in overweight individuals (see
between these diagnoses.

-
ble erythrasma when they occur in the axillary and inguinal areas.
Tinea infections also have well-demarcated borders that can be
raised with central clearing. This distinctive ringworm look is more
obvious with tinea than erythrasma but a scraping for microscopic
examination should be able to distinguish between the two condi-
onychomycosis when there are tinea infections elsewhere on the
FIGURE 102-3 Lig ht b rown e rythrasma in the g roin of a young man. It -

d oe s not have the d e g re e of scaling usually se e n with tine a cruris.
(Use d with p e rmission from Dan Stulb e rg , MD.)
sis from erythrasma. Candidiasis will not uoresce and a micro-
scopic examination of a Candida infection should show branching
pseudohyphae (see Chapter 121, Candidiasis).
-
examination may eliminate the uorescence. worse by infection with Candida, bacteria, or dermatophytes, and
- therefore overlaps with the erythrasma, Candida, and dermatophy-
lene blue stain to scrapings from the skin to reveal Gram-positive
rods and dark blue granules, respectively. However, if the presen- All efforts should be made to nd coexisting infections and treat
- them.
scopic examination and cultures are not needed. -
tory and Wood lamp should help to differentiate the two condi-
DIFFERENTIAL DIAGNO SIS MANAGEMENT
NO NPHARMACO LO GIC
with soap and water prior to application of topical antibiotics. 5

SO R
to help prevent recurrence. 5 SO R
MEDICATIO NS
(e.g., penicillins, rst-generation cephalosporins), the treatment of
Erythromycin shows cure rates as high as 100 percent. SO R
for the treatment of extensive or resistant cases. 5 SO R
been recommended in addition to oral therapy in patients with hid-

den reservoirs of infection (i.e., interdigital involvement). SO R
FIGURE 102-4 Brown e rythrasma in the g roin of a young man with

d iab e te s. (Use d with p e rmission from the Unive rsity of Te xas He alth oral erythromycin therapy and for 2 weeks after physical clearance
Scie nce s Ce nte r, Division of De rmatolog y.) of the lesions for treatment and prophylaxis. 3,6 SO R
PART 14
608 CHAPTER 102
DERMATO LO GY
SOR PRO VIDER RESO URCES

Erythrasma http:// emedicine.medscape.com/
erythromycin or single-dose clarithromycin based on Wood light article/ 1052532.
re ection scores. 8
of a diabetic patient with erythrasma. 2 SO R REFERENCES

Erythrasma. http://
PRO GNO SIS emedicine.medscape.com/ article/ 1052532-overview# a0199,
accessed April 2, 2012.
Clin Dermatol.
individuals, Corynebacterium can cause abscess formation, bactere-
mia, endocarditis, pyelonephritis, cellulitis, and meningitis. 1 Drugs.
addressed. Andrew’s Diseases of the Skin

Clinical Dermatology
2006.
FO LLO W-UP
Mycoses.
erythrasma has resolved.
Am Fam Physician.
PATIENT EDUCATIO N
case of erythrasma. N Engl J Med.
Reassure the patient that erythrasma is curable with antibiotic
treatment. -
tiveness of erythromycin, single-dose clarithromycin and topical
fusidic acid in the treatment of erythrasma. J Dermatolog Treat.
PATIENT RESO URCES
2011 Sep 18 [Epub ahead of print].
Erythrasma www.ncbi.nlm.nih.gov/
Erythrasma www.dermnetnz.org/
bacterial/ erythrasma.html.
PART 14
CELLULITIS 609
DERMATO LO GY
103 CELLULITIS
PATIENT STO RY
an underlying dermatosis (e.g., atopic dermatitis) (Figures 103-1
to 103-4).
A 4-year-old child presents with a fever and a red and swollen foot
(Figure 103-1). The patient injured her foot 3 days before with a β-hemolytic Streptococcus (GAS)
door. On physical examination, the foot was warm, tender, red, and (Figure 103-3) or Staphylococcus aureus. The most common etiol-
swollen, and the child’s temperature was 39.4°C (103°F). This is ogy of cellulitis with intact skin, when it has been determined
classic cellulitis and the child was admitted for IV antibiotics. through needle aspiration and/ or punch biopsy, is S. aureus,
outnumbering GAS by a ratio of nearly 2:1. 2
INTRO DUCTIO N acquired methicillin-resistant S. aureus (MRSA) in all soft-tissue

infections including cellulitis. 3–6
Cellulitis is an acute infection of the skin that involves the dermis and
Pasteurella
subcutaneous tissues.
multocida (Figure 103-4).
Vibrio vulni-
EPIDEMIO LO GY cus in warm climates. A Vibrio vulni cus infection can be especially
deadly.
hospital in New Zealand, the most common types of infection were

cellulitis (38%) and subcutaneous abscesses (36%). 1 The most fre- elevated border (Figures 103-5 and 103-6).
quent sites of infection were the head, face and neck, (32%) and
lower limbs (32%). The most frequently isolated organisms were children in California were age less than 3 years, being Black, and
Staphylococcus aureus (48%) and Streptococcus pyogenes (20%). 1 lacking private insurance. 7
3 years.
FIGURE 103-2 Ce llulitis at the site o f a cle nche d - st injury whe n a

young man hit anothe r p e rson on the tooth d uring a g ht. This can
FIGURE 103-1 Ce llulitis of the foot afte r an injury with a d oor in a re sult in a se p tic joint as we ll as a se p tic te nosynovitis. (Use d with
4-ye ar-old g irl. (Use d with p e rmission from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
PART 14
610 CHAPTER 103
DERMATO LO GY
FIGURE 103-5 Butte r y rash of e rysip e las. The sharp d e marcation

b e twe e n the salmon-re d e rythe ma and the normal surround ing skin is
FIGURE 103-3 Group A β-he molytic Stre p tococcus (GAS) ce llulitis of e vid e nt. (Re p rod uce d with p e rmission from Shah BR, Lucche si M: Atlas
the achille s he e l that starte d as local trauma in a b oy. (Use d with p e r- of Pe d iatric Eme rg e ncy Me d icine , © 2006, McGraw-Hill, Ne w York.)
mission from Camille Sab e lla, MD.)
DIAGNO SIS
CLINICAL FEATURES
Rubor (red), calor (warm), tumor (swollen), and dolor (painful).
Can occur on any part of the body, but is most often seen on the
extremities and face (Figures 103-1 to 103-6). Periorbital cellulitis
FIGURE 103-6 Erysip e las surround ing the e ar of this g irl. Note the
we ll-d e marcate d b ord e rs we re trace d b y a p e n to monitor tre atme nt
FIGURE 103-4 Ce llulitis re sulting from a cat b ite injury in a child . The p rog re ss. (Re p rod uce d with p e rmission from Shah BR, Lucche si M:
most like ly org anism is Paste ure lla multocid a. (Use d with p e rmission Atlas of Pe d iatric Eme rg e ncy Me d icine , © 2006, McGraw-Hill,
from Emily Scott, MD.) Ne w York.)
PART 14
CELLULITIS 611
DERMATO LO GY
FIGURE 103-9 Ce llulitis and ab sce ss of the ne ck and che st in a 2-ye ar-
FIGURE 103-7 Life -thre ate ning stap hylococcal p e riorb ital ce llulitis old g irl in Ethiop ia. Incision and d rainag e of the uctuance ove r the
re q uiring op e rative inte rve ntion. (Use d with p e rmission from Frank ne ck re ve ale d p us. A d rain was p lace d to allo w the p us to continue to
Mille r, MD.) d rain from the incision site . She was tre ate d with IV ce ftriaxone and she
survive d . (Use d with p e rmission from Richard P. Usatine , MD.)
can be life-threatening (Figure 103-7). Infants can develop cellulitis DIFFERENTIAL DIAGNO SIS
around the umbilicus (omphalitis), which can spread rapidly through
the umbilical vessels (Figure 103-8).
LABO RATO RY TESTS

abscess. Sometimes the only way to tell the difference is to aspirate
the area with a needle. Of course the two conditions can coexist
needle aspiration or incision and drainage should be performed when an abscess is surrounded by cellulitis (Figure 103-9; see
(Figure 103-9). If pus is aspirated, perform a culture to guide Chapter 104, Abscess).
antibiotic use.
illness mediated by exfoliative toxins A and B of Staphylococcus
aureus
variable and not recommended. 5 exfoliation of skin should be a tip of that this is a toxin mediated ill-
ness (Figure 103-10; see Chapter 106, Staphylococcal Scalded
Skin Syndrome).
FIGURE 103-10 Erythe ma and d e sq uamation of the skin in this infant

FIGURE 103-8 O mp halitis (ce llulitis of the umb ilicus) in a ne wb orn. with stap hyloco ccal scald e d skin synd rome . (Use d with p e rmission from
(Use d with p e rmission from Emily Scott, MD.) John C Browning , MD.)
PART 14
612 CHAPTER 103
DERMATO LO GY
vomiting and unable to hold medicine down) for which the patient
and fascia with diffuse swelling, severe pain, and bullae in a toxic- should seek more immediate follow-up.
-
dures can detect gas in the soft tissues. Rapid progression from FO LLO W-UP
mild erythema to violaceous or necrotic lesions and/ or bullae in a
If prescribing oral outpatient therapy, consider follow-up in 1 to
2 days to assess response to the antibiotic and to determine the
adequacy of outpatient therapy.
MANAGEMENT PATIENT RESO URCES

www.nlm.nih.gov/
medlineplus/ cellulitis.html.
-
promised patients (e.g., HIV, transplant recipient, chronic renal or PRO VIDER RESO URCES
liver disease, on prednisone, diabetes out of control) with cellulitis
because they may decompensate quickly. SO R www.rch.org.au/ clinicalguide/ guideline_
- index/ Cellulitis_and_Skin_Infections/ .
sus intravenous antibiotics is lacking. 8 http:// emedicine.medscape.com/ article/ 214222.
the pre-MRSA era) involves covering GAS and S. aureus with ceph-
alexin or dicloxacillin. 5 SO R The typical duration is 7 to 10 days. REFERENCES
SO R
1. O’Sullivan C, Baker MG. Serious skin infections in children: a re-
view of admissions to Gisborne Hospital (2006-2007). N.Z. Med J.
than erythromycin because of macrolide resistance and increasing 2012;55-69.
MRSA prevalence. 5 SO R 2. Chira S, Miller LG. Staphylococcus aureus is the most common
Epidemiol Infect.
2010;138:313-317.
for patients with life-threatening penicillin allergies, clindamycin,
or vancomycin. 5 SO R
- cellulitis. Am J Med. 2010;123:942-950.
sue infections, 4
- S. aureus infections among patients in the emergency department.
lem in cellulitis with intact skin. If there is a coexisting abscess or N Engl J Med. 2006;355:666-674.
crusting lesion, it is best to obtain a culture to guide therapy and
the diagnosis and management of skin and soft-tissue infections.
clindamycin. 3 SO R
Clin Infect Dis. 2005;41:1373-1406.
antibiotic choice and treatment of cellulitis in the pre- and post-

community-acquired methicillin-resistant Staphylococcus aureus
Fasciitis).
eras. Am J Emerg Med. 2009;27:436-439.
-
that predispose the patient to the infection. SO R
nia, USA, 1985-2009. Emerg. Infect. Dis. 2013;10-20.
8. Morris AD. Cellulitis and erysipelas. Clin Evid (Online). 2008(2):
PATIENT EDUCATIO N 2008.
Recommend that the patient rest and elevate the involved extremity.
If outpatient therapy is followed, then provide precautions (e.g.,
PART 14
ABSCESS 613
DERMATO LO GY
104 ABSCESS departments in 11 US cities. S. aureus was isolated from 76 percent

of these infections and 59 percent were community-acquired
Richard P. Usatine , MD MRSA (CA-MRSA). 1
drug abuse, homelessness, dental disease, contact sports, incarcera-

tion, and high prevalence in the community.
PATIENT STO RY
hospital in New Zealand, the most common types of infection
A 2-year-old girl in Ethiopia is brought to see the visiting American
were cellulitis (38%) and subcutaneous abscesses (36%). 2 The most
doctor for a painful swollen hand. The hand was massively swollen and
frequent sites of infection were the head, face and neck (32%), and
the child did not want to use it. On examination she had a temperature
lower limbs (32%). The most frequently isolated organisms were
of 99º F and there was visible pus under the skin (Figure 104-1). An
Staphylococcus aureus (48%) and Streptococcus pyogenes (20%). 2
incision and drainage was performed and much pus and blood squirted
from the abscess. The abscess was packed lightly to stop any bleeding
and to prevent it from closing prematurely. Oral antibiotics were ETIO LO GY AND PATHO PHYSIO LO GY
given to cover the surrounding cellulitis and any deeper infections. A
culture to look for methicillin-resistant Staphylococcus aureus (MRSA)
S. aureus.
was not available in rural Ethiopia, but close follow-up was set
for the next day and the patient was doing much better. The medical
team performed twice daily home visits and administered the oral who work or are exposed to a health-care system, intravenous drug
trimethoprim-sulfamethoxazole while changing the dressings. Within use, previous MRSA infection and colonization, recent hospitalization,
one week, the child was playing happily, the erythema and swelling being homeless, African American, and having used antibiotics within
were resolving, and she was beginning to use her hand again. the last 6 months. 3
children in California were age less than 3 years, being Black, and
INTRO DUCTIO N lacking private insurance. 4
-
An abscess is a collection of pus in the infected tissues. The abscess rep- ated management of skin abscesses drained in the emergency
resents a walled-off infection in which there is a pocket of purulence. In
abscesses of the skin the offending organism is almost always S. aureus. between amount of surrounding cellulitis or abscess size with the
likelihood of MRSA-positive cultures. 3
EPIDEMIO LO GY
DIAGNO SIS
-
sue infections among patients presenting to emergency CLINICAL FEATURES
Collection of pus in or below the skin. Patients often feel pain and
have tenderness at the involved site. There is swelling, erythema,
warmth, and uctuance in most cases (Figures 104-1 to 104-3).
Determine if the patient is febrile and if there is surrounding cellulitis.
Skin abscesses can be found anywhere from head to feet. Frequent
sites include the hands, feet, extremities (Figure 104-2), head, neck,
buttocks, and breast.
One type of abscess occurring in the pulp of a distal digit (usually a
Figures 104-4). This is particularly painful
and requires a digital block for incision and drainage.

Clinical cure is often obtained with incision and drainage alone so the
patients. 3 Most clinical studies have excluded patients who were

-
FIGURE 104 -1 A larg e ab sce ss of the hand in a 2-ye ar-o ld g irl in ties. 3 Consequently, it may be reasonable to obtain wound cultures in
Ethio p ia. Incision and d rainag e was p e rfo rme d and antib io tics we re
g ive n to co ve r the surround ing ce llulitis and any d e e p e r infe ctions. high-risk patients, those with signs of systemic infection, and in
(Use d with p e rmission from Richard P. Usatine , MD.) patients with history of high recurrence rates. 3,5
PART 14
614 CHAPTER 104
DERMATO LO GY
FIGURE 104-2 An ato p ic b oy with b ilate ral ab sce sse s on the e lb o ws.
This ab sce ss d raine d sp ontane ously once g e ntle p re ssure was ap p lie d
FIGURE 104-4 Fe lon. An ab sce ss in the p ulp of the d istal ng e r. A
to the are a of uctuance . The culture re ve ale d S. aure us se nsitive to
d ig ital b lock was re q uire d to incise and d rain this soft tissue ab sce ss.
me thicillin and all the skin infe ctio ns cle are d with oral antib io tics. The
atop ic d e rmatitis was tre ate d succe ssfully with 0.1 p e rce nt triamcino-
lone ointme nt. (Use d with p e rmission from Richard P. Usatine , MD.)
DIFFERENTIAL DIAGNO SIS the apocrine glands of the axilla and inguinal areas (see Chapter 98,
(also known as sebaceous cysts) can become in amed, swollen, and starts in hair follicle or sweat gland. A carbuncle occurs when the
superinfected. Although the initial erythema may be sterile in am- furuncle extends into the subcutaneous tissue.
mation, these cysts can become infected with S. aureus. The treat-
ment consists of incision and drainage and antibiotics if cellulitis is to inject with steroid rather than incise and drain (see Chapter 96,
also present. If these are removed before they become in amed, Acne Vulgaris).
the cyst may come out intact (Figure 104-5).
MANAGEMENT
area of infected skin has an abscess, needle aspiration with a large-gauge
needle may be helpful to determine whether to incise the skin. Cellulitis
alone should have no area of uctuance (see Chapter 103, Cellulitis).
abscess. 3,6 SO R Inject 1 percent lidocaine with epinephrine into
the skin at the site you plan to open using a 27-gauge needle. A ring
block can be helpful rather than injecting into the abscess itself
(Figure 104-3). Open the abscess with a linear incision using a
# 11 blade scalpel following skin lines if possible. 7
gauze, there is limited data on whether or not packing of an abscess

cavity improves outcomes. A small study concluded that routine
packing of simple cutaneous abscesses is painful and probably
unnecessary. 8 SO R The author of this chapter often packs
abscesses lightly and has the patient remove the packing in the
shower 2 days later, avoiding additional visits and painful repacking
of the healing cavity. SO R
packed it can seal over and the pus may reaccumulate.
-
sion and drainage is not supported by current evidence. 3,9–11
SO R Three randomized controlled trials (RCTs) performed
since the emergence of CA-MRSA have demonstrated that antibiot-
FIGURE 104-3 MRSA ab sce ss on the b ack of the ne ck that p atie nt
thoug ht was a sp id e r b ite . Note that a ring b lock was d rawn around the
ab sce ss with a surg ical marke r to d e monstrate how to p e rform this abscesses, but two of these studies suggest that antibiotics do
b lock. (Use d with p e rmission from Richard P. Usatine , MD.) decrease short-term rates of new lesion development. 9–11
PART 14
ABSCESS 615
DERMATO LO GY
PATIENT RESO URCES

www.skinsight.com/ adult/
abscess.htm.
community-associated MRSA (MRSA)? J Emerg Med

276-281.
www.sciencedirect.com/ science/ article/ pii/
S0736467911004252# ref_bib17.
REFERENCES
S. aureus infections among patients in the emergency department.

N Engl J Med.
N.Z.
Med J. 2012;55-69.
FIGURE 104-5 Ep id e rmal inclusion cyst re move d intact. The re is no community-associated methicillin-resistant Staphylococcus aureus
ne e d for antib iotics in this case . (Use d with p e rmission from Richard P. (MRSA)? J Emerg Med.
Usatine , MD.)
USA, 1985-2009. Emerg. Infect. Dis. 2013;10-20.

5. Abrahamian FM, Shroff SD. Use of routine wound cultures to eval-
drainage of simple abscess in children and adults showed that antibi-
uate cutaneous abscesses for community-associated methicillin-
resistant Staphylococcus aureus. Ann Emerg Med.
complete resolution of their abscesses 7–10 days after treatment. 12
CAMRSA in patients who are febrile or have systemic symptoms,

subcutaneous abscess. A randomized clinical trial. Acta Chir Scand.
drainage alone, have frequent recurrences, or have a history of close
contacts with abscesses.3 SO R Dermatologic and
Cosmetic Procedures in Of ce Practice.
-
tive to trimethoprim-sulfamethoxazole.3 SO R Alternative antibi-
otics include oral clindamycin, tetracycline (for children 8 years of simple cutaneous abscesses is painful and probably unnecessary.
age and older), or doxycycline (for children 8 years of age and older). Acad Emerg Med.
Local sensitivity data should be consulted when available.3 SO R
controlled trial of antibiotics in the management of community-
medication (mupirocin or rifampin) in the eradication of MRSA acquired skin abscesses in the pediatric patient. Ann Emerg Med.
colonization. 3 SO R
trial of trimethoprim-sulfamethoxazole for uncomplicated skin

PATIENT EDUCATIO N abscesses in patients at risk for community-associated methicillin-
resistant Staphylococcus aureus infection. Ann Emerg Med.
Patients may shower daily 24 to 48 hours after incision and drainage 283-287.
and then reapply dressings. Patients should be given return precau-
11. Rajendran PM,Young D, Maurer T, et al. Randomized, double-blind,
tions for worsening of symptoms or continued redness, pain, or pus.
placebo-controlled trial of cephalexin for treatment of uncompli-
cated skin abscesses in a population at risk for community-acquired
FO LLO W-UP methicillin-resistant Staphylococcus aureus infection. Antimicrob
Agents Chemother.
In patients or wounds at higher risk for complications, follow-up
should be scheduled in 24 to 48 hours. If packing was placed, it can Emerg. Med. J. 2013.
be removed by the patient or a family member. Published online May 18, 2013.
PART 14
616 CHAPTER 105
DERMATO LO GY
105 STAPHYLO CO CCAL EPIDEMIO LO GY

SCALDED SKIN
SYNDRO ME
Camille Sab e lla, MD with a toxin-producing strain of S aureus (Ritter syndrome).
Charle s B. Foste r, MD
PATIENT STO RY S aureus are responsible for the

manifestations of the illness. 1,2
An 18-month-old girl is admitted to the hospital with fever, irritabil- S aureus belonging to phage group II, types 71
ity, and a tender skin rash on her face. She also has developed facial
swelling bilaterally and perioral crusting (Figure 105-1). Over the
next 24 hours, the rash spreads to her neck and trunk and she devel- characteristic rash.
ops accid blisters on the areas of rash on her neck and trunk. When
gentle friction is applied to involved areas of the skin, the skin easily
in a super cial location. 3,4
sloughs super cially (Nikolsky sign). She is treated with intravenous
anti-staphylococcal antibiotics and recovers completely. A culture
taken from her nares grows Staphylococcal aureus. RISK FACTO RS
S aureus at sites other than

INTRO DUCTIO N the skin, such as the umbilicus (in neonates), nasopharynx, or
conjunctiva.
Staphylococcal scalded skin syndrome (SSSS) is a toxin-mediated
illness mediated by exfoliative toxins A and B of Staphylococcus aureus.
DIAGNO SIS
SYNO NYMS CLINICAL FEATURES
Ritter syndrome (SSSS in neonates and young infants).

may be the primary clinical features (Figures 105-2 to 105-4).
and which progress to become widespread super cial peeling of the

skin (Figure 105-5).
FIGURE 105-1 18-month-old g irl with SSSS. Note the e d e ma of the

face , p e rioral crustine ss, and e xte nsion of the e rythe ma to the ne ck FIGURE 105-2 O ne -month-old infant with SSSS. Note the crustine ss
and trunk. Also note the thin d e sq uamation on the che st and axilla. on the face and facial e d e ma. (Use d with p e rmission from Charle s B.
(Use d with p e rmission from Camille Sab e lla, MD.) Foste r, MD.)
PART 14
STAPHYLO CO CCAL SCALDED SKIN SYNDRO ME 617
DERMATO LO GY
FIGURE 105-3 Infant with e d e ma and crustine ss on the face typ ical for
SSSS. (Use d with p e rmission from John C Browning , MD.)
FIGURE 105-5 Same infant as in Figure 105-2, with thin wid e sp read
b listers on the trunk. (Use d with p e rmission from Charle s B. Foste r, MD.)
(Nikolsky sign).
S aureus.
(Figure 105-6).
SURGERY
DISTRIBUTIO N
the granular layer within the epidermis. 7
features and response to conventional therapy.

S aureus from a site distant to the skin—usually the naso-
pharynx, conjunctiva, site of circumcision, umbilicus (in neonates)—
the isolate provides more de nitive diagnosis, but this is rarely per-
FIGURE 105-4 Tod d le r with SSSS and marke d p e rioral crustine ss, e ry- FIGURE 105-6 De sq uamation of the skin in this infant with SSSS.
the ma, and e d e ma. (Use d with p e rmission fro m Camille Sab e lla, MD.) (Use d with p e rmission from John C Browning , MD.)
PART 14
618 CHAPTER 105
DERMATO LO GY
DIFFERENTIAL DIAGNO SIS PRO GNO SIS
present; mucus membranes usually involved; biopsy shows separa-
-
PATIENT RESO URCES
berry tongue often present; school aged children are most com-
001352.htm.
- http:// emedicine.medscape.com/ article/ 788199-
brane involvement; rash polymorphous, extremity changes, and overview.
Red
Syndromes). Book: 2012 Report of the Committee on Infectious Diseases.

MANAGEMENT http:// www.accesspediatrics.com/ content.aspx?
aID=7027999.
NO NPHARMACO LO GIC
antipyretics, and anti-analgesics. REFERENCES
superinfection of the skin. scalded-skin syndrome depend on serotypes of exfoliative toxins.

J Clin Microbiol
or aluminum acetate solution.
.
J Infect Dis
MEDICATIO NS
staphylococcal toxins. J Biochem (Tokyo).
toxin in the staphylococcal scaled-skin syndrome. Pediatrics

prompt clinical improvement. SO R
.
N Engl J Med
after there is clear clinical improvement, to complete a 7- to
10-day course of therapy. SO R the expanded clinical syndrome. J Pediatr
and management. Am J Clin Dermatol

provide lubrication and decreases discomfort.
PART 14
NECRO TIZING FASCIITIS 619
DERMATO LO GY
106 NECRO TIZING FASCIITIS Streptococcus pyogenes is the most common form of NF
in children and adults.
Je re my A. Franklin, MD one-year of age; pre-existing risk factors, such as prematurity,
Camille Sab e lla, MD are common, and many of these cases occur in association with
omphalitis or circumcision.
PATIENT STO RIES (Figure 106-3).
A 9-day-old neonate presented with high fever, moaning, and slightly ETIO LO GY AND PATHO PHYSIO LO GY
indurated swelling with bluish discoloration on the back (Figure 106-1).
Within 12 hours, there was vesiculation and purplish discoloration. The
infant was diagnosed with necrotizing fasciitis and surgery was consulted bacteria:
immediately. The rst surgical exploration and débridement and shows ~ Frequently caused by enteric Gram-negative pathogens including
the underlying muscle and necrotic borders. Both blood and tissue Enterobacteriaceae organisms and Bacteroides.
cultures grew Staphylococcus aureus. Multiple surgical explorations and ~ Can occur with Gram-positive organisms such as non-group A
débridement were performed followed by skin grafting during recovery. streptococci and Peptostreptococcus.5
The infant survived with scarring but no other sequelae. ~ Saltwater variant can occur with penetrating trauma or an open
A 16-year-old female presented with necrotizing fasciitis of the left wound contaminated with saltwater containing marine vibrios.
gluteal region following an intramuscular injection received in rural Vibrio vulni cus is the most virulent. 6
India. She was febrile and in septic shock. The entire left gluteal region ~ Up to 15 pathogens have been isolated in a single wound.
had full thickness necrosis and was emitting a foul odor. The skin was ~ Average of ve different isolates per wound.
7
violaceous with purple bullae and areas of exfoliation. Previous attempts
at incision and drainage were not helpful. She was treated with intrave-
nous uids, antibiotics and full-thickness extensive surgical debridement monomicrobial infection caused by GAS:
~ May occur in combination with Staphylococcus aureus.
in the operating room. She became afebrile and hemodynamically
~ Methicillin-resistant S. aureus is no longer a rare cause of NF.5
stable. Her subsequent treatment consisted of negative pressure wound
~ GAS may produce pyrogenic exotoxins, which act as superanti-
therapy followed by skin grafting. She survived with scarring and contour
deformities but no other sequelae (Figure 106-2). gens to stimulate production of tumor necrosis factor
(TNF)-α , TNF-β , interleukin (IL)-1, IL-6, and IL-2. 7
INTRO DUCTIO N
RISK FACTO RS
Necrotizing fasciitis (NF) is a rapidly progressive infection of the deep
fascia, with necrosis of the subcutaneous tissues. In children, it usually
occurs after surgery, trauma, or varicella infection. Patients have ery-
~ Diabetes mellitus.
thema and pain disproportionate to the physical ndings. Immediate
~ Prematurity.
surgical debridement and antibiotic therapy should be initiated. 1
~ Severe peripheral vascular disease.
~
~ Alcoholism and cirrhosis.

SYNO NYMS ~ Intravenous drug use.
~ Decubitus ulcers.
- ~ Poor nutritional status.
rative fasciitis, hospital gangrene, and necrotizing erysipelas. Fournier ~ Postoperative patients or those with penetrating trauma.
gangrene is a type of NF or NSTI in the genital and perineal region. 2 ~ Abscess of the female genital tract.
S. aureus):
~ Varicella.
EPIDEMIO LO GY ~ Burns.
~ Penetrating trauma.
per million population per year, according to a recent population-
based active surveillance study from Canada; incidence is 0.81 per DIAGNO SIS
million for non–Group A Streptococcus-related cases, and 2.12 per
million for Group A Streptococcus (GAS)-related cases. Early recognition based on signs and symptoms is potentially life
saving. Although lab tests and imaging studies can con rm ones’
underlying medical conditions, such as diabetes mellitus, trauma or clinical impression, rapid treatment with antibiotics and surgery are
recent surgery. crucial to improving survival.
PART 14
620 CHAPTER 106
DERMATO LO GY
B D
FIGURE 106-1 A. A 9-day-old neonate p resented with hig h fever, moaning , and slig htly indurated swelling with b luish d iscoloration
on the b ack. Within 12 hours, the re was ve siculation and p urp lish d iscoloration. B. This p hotog rap h was take n 8 hours following
the rst surg ical e xp loration and d é b rid e me nt and shows the und e rlying muscle and ne crotic b ord e rs. C. Close -up showing
ne crotic b ord e rs and p us ove r the und e rlying muscle . Both b lood and tissue culture s g re w Stap hylococcus aure us. D. Multip le
surg ical e xp lorations and d é b rid e me nt we re p e rforme d followe d b y skin g rafting d uring re cove ry. (Use d with p e rmission from
Shah BR, Lucche si M. The Atlas of Pe d iatric Eme rg e ncy Me d icine , McGraw-Hill, 2006, p . 87.)
CLINICAL FEATURES skin, with some serosanguineous drainage. The bullae may become
violaceous (Figure 106-2). The skin can become gangrenous and
develop a black eschar. 2
of the exanthem.
the margin of erythema.
children may refuse to bear weight on an involved extremity or
refuse to walk.
Figure 106-2), ecchymosis,
and necrosis or gangrene. Anesthesia of the skin develops as a result of infarction of cutaneous
- nerves. 2
ation. Vesicular and bullous lesions form over the erythematous
PART 14
DERMATO LO GY
FIGURE 106-3 Varice lla in an unimmunize d tod d le r. Althoug h this

child d id not d e ve lop ne crotizing fasciitis, b acte rial sup e rinfe ction with
Stre p tococcus p yog e ne s o f varice lla le sions is o ne of the most imp or-
A tant p re d isp osing factors for ne crotizing fasciitis in child re n. (Use d with
(Figures 106-2), trunk (Figure 106-1), abdomen, gluteal region,

upper extremities, and perineum (Fournier gangrene).
include an elevated white blood cell count (WBC), a predominance

of immature neutrophils, a low serum sodium, and a high blood
urea nitrogen (BUN).
cultures cannot be relied on alone. Gram staining of the exudate

may provide clues about the pathogens while awaiting culture
results. 2
attempt to identify the causative organism.
the tissues.
tissue involvement and to detect gas within soft tissues or muscles.
B should not delay surgical consultation.

FIGURE 106-2 A. Ne crotizing fasciitis of the le ft g lute al re g ion follow-
ing an intramuscular inje ction re ce ive d in rural Ind ia. This 16-ye ar-old BIO PSY
fe male was fe b rile and in se p tic shock. The e ntire le ft g lute al re g ion
had full thickne ss ne crosis and was e mitting a foul od or. The skin was
violace ous with p urp le b ullae and are as of e xfoliation. Pre vious areas of necrosis.
atte mp ts at incision and d rainag e we re not he lp ful. B. He aling with
scarring and contour d e formitie s. Tre atme nt consiste d of intrave nous
antib iotics, full-thickne ss e xte nsive surg ical d e b rid e me nt, ne g ative “dishwater pus.”
p re ssure wound the rap y followe d b y skin g rafting . (Use d with p e rmis-
sion from Dr. N. Jithe nd ran and http ://d iab e ticfootsalvag e .b log sp ot.
in/2012/11/p ost-intramuscular-inje ction-soft.html.) local hemorrhage.

with GAS infection. 5 -
TYPICAL DISTRIBUTIO N disease despite antibiotics, systemic toxicity, intense pain, and skin
PART 14
622 CHAPTER 106
DERMATO LO GY
patients who cannot be treated with beta-lactam antibiotics or

groups. Synergistic necrotizing cellulitis involves muscle groups in who are suspected of having multi-drug resistant gram-negative
addition to super cial tissues and fascia. 7 Although pyomyositis may infections. SO R
occur with NF, it can occur independent of cutaneous and soft-tissue ~ Empiric vancomycin should be considered during pending cul-
infections. Imaging of the muscle con rms the diagnosis. ture results to cover for the increasing incidence of community-
7
acquired methicillin-resistant Staphylococcus aureus
caused by clostridial organisms. Surgical exploration and cultures are ~ For NF due to V. vulni cus infection, doxycycline in combination
required to differentiate from NF. with a third-generation cephalosporin is preferred for children
8 years of age and older, while a combination of trimethorprim
sulfamethoxazole and an aminoglycoside is recommended for
in ammatory response to a toxin-producing bacteria characterized
younger children. 11
by fever, hypotension, generalized erythroderma, myalgia, and
2) may have bene cial effects when
~
multisystem organ involvement. NF may occur as part of the toxic
shock syndrome. 5
decreased morbidity (amputations 50% versus 0%) and mortality
12
2.
SO R
MANAGEMENT
capillary leak syndrome. Supplemental enteral nutrition is often
Start by maintaining a high index of suspicion for NF. If the rst
necessary for patients with NSTIs.
there is a signi cantly improved chance of survival. 8
7–10 SOR
wound management after debridement of NSTIs. 10
~ Extensive, de nitive debridement should be the goal with the
NF or toxic shock syndrome cannot be made with certainty.7 SOR
rst surgery. This may require amputation of an extremity to
control the disease. Surgical debridement is repeated until all
infected devitalized tissue is removed. PRO GNO SIS AND FO LLO W-UP
spectrum empiric antibiotics should be started immediately when
NF is suspected and should include coverage of Gram-positive, aggressive, modern therapy. 6,7
Gram-negative, and anaerobic organisms. 7 SO R ~ However, in a retrospective chart review of patients with NSTIs
~ Antimicrobial therapy must be directed at the known or suspected
pathogens and used in appropriate doses until repeated operative 2007 mortality rates varied between hospitals from 9 to
procedures are no longer needed, the patient has demonstrated 25 percent (n = 296).
72 hours. 7 SO R surveillance study from Canada.

~ Clindamycin is useful for coverage of anaerobes and aerobic ~ Early diagnosis and treatment appears to reduce the case fatality rate.
Gram-positive cocci, including most S. aureus serogroups.
~ Clindamycin should be considered in initial coverage for its
effects on exotoxin production in group A Streptococcus (GAS)
infections. NF and/ or streptococcal toxic shock syndrome caused survival. 8
by group A streptococci should be treated with clindamycin and
penicillin. 7 SO R PATIENT EDUCATIO N
I The rationale for clindamycin is based on in vitro studies dem-
onstrating both toxin suppression and modulation of cytokine
The serious life-threatening nature of NF should be explained to the
(i.e., TNF) production, on animal studies demonstrating supe-
patient and family when informed consent is given prior to surgery.
rior ef cacy versus that of penicillin, and on two observational
The risk of losing life and limb should be explained while giving hope
studies demonstrating greater ef cacy for clindamycin than for
for recovery. For those patients who survive but have lost a limb,
β -lactam antibiotics. 7 SO R
counseling should be offered to help them deal with the psychological
~ Metronidazole has the greatest anaerobic spectrum against the
effects of the amputation.
enteric Gram-negative anaerobes, but it is less effective against
the Gram-positive anaerobic cocci. Gentamicin, ticarcillin-
clavulanate, or piperacillin-sulbactam is useful for coverage PATIENT RESO URCES
against resistant Gram-negative rods. 7 www.cdc.gov/ ncidod/ dbmd/ diseaseinfo/
~ A common choice of empiric antibiotics for community-acquired groupastreptococcal_g.htm.
mixed infections is a combination of ampicillin-sulbactam or www.pamf.org/ health/ healthinfo/ index.cfm?A=
pipercillin-tazobactam plus clindamycin. 7 Aminoglycosides or C&hwid=hw140405.
cipro oxacin can be used to provide gram-negative coverage for
PART 14
DERMATO LO GY
PRO VIDER RESO URCES 7. Stevens DL, Bisno AL, Chambers HF, et al. Practice guidelines for
the diagnosis and management of skin and soft-tissue infections.
Clin Infect Dis.
http://cid.oxfordjournals.org/
content/ 41/ 10/ 1373.full# sec-6.
fasciitis in the extremities. Hong Kong Med J.
9. Angoules AG, Kontakis G, Drakoulakis E, et al. Necrotising
REFERENCES fasciitis of upper and lower limb: a systematic review. Injury.
Am Fam Physician.
10. Endorf FW, Cancio LC, Klein MB. Necrotizing soft-tissue infections:
2. Koukouras D, Kallidonis P, Panagopoulos C, et al. Fournier’s clinical guidelines. J Burn Care Res.
gangrene, a urologic and surgical emergency: presentation of a 11. Centers for Disease Control and Prevention : Management of
Urol Int. 2011;86: Vibrio vulni cus wound infections. Available online at http://
167-172. www.cdc.gov/ nczved/ divisions/ dfbmd/ diseases/ vibriov/
- index.html# treatment.
ciitis in children: an active surveillance study of the Canadian pae-
diatric surveillance program. J Pediatr
reduces mortality and amputation rate. Undersea Hyperb Med.
necrotizing fasciitis during primary varicella. Pediatrics.
-
- ology, microbiology, and outcome of necrotizing soft-tissue
coccal infections associated with a toxic shock-like syndrome and infections: a multicenter study. Am J Surg.
scarlet fever toxin A. N Engl J Med
6. Horseman MA, Surani S. A comprehensive review of Vibrio vulni-
cus: an important cause of severe sepsis and skin and soft-tissue
infection. Int J Infect Dis. 2011;15:e157-e166.
PART 14
624 CHAPTER 107
DERMATO LO GY
107 ECTHYMA ETIO LO GY AND PATHO PHYSIO LO GY

GANGRENO SUM -
Aron Flag g , MD nated Paeruginosa infection; however, it has also been described
Camille Sab e lla, MD with other Gram-negative bacilli and fungi, including Aeromonas
hydrophila, Enterobacter, Escherichia coli, Morganella, Serratia marcescens,
Stenotrophomonas maltophilia, Aspergillus, Candida, Fusarium, and
Mucor. 1–3
PATIENT STO RY
A 13-year-old boy is hospitalized while receiving induction

therapy for acute myelogenous leukemia. During a period of vessel layers. 2,4
profound neutropenia, he develops a fever of 39°C associated
with rigors. Blood cultures are taken and he is given broad-
spectrum antibiotics. Over the next 48 hours, a tender, erythem- RISK FACTO RS
atous 2 × 2 cm papule develops on his arm, the center of which
becomes vesicopustular (Figure 107-1). Blood cultures from -
the initial febrile period are subsequently positive for Pseudomonas
aeruginosa. He is treated with combination therapy including also be seen. 1
piperacillin/ tazobactam and gentamicin for two weeks until
neutrophil recovery.
DIAGNO SIS
INTRO DUCTIO N CLINICAL FEATURES

-
Ecthyma gangrenosum is an infectious lesion of the skin with a ules (Figure 107-2), then pustules, vesiculopustules (Figure 107-1),
characteristic necrotic center. It is seen predominantly in the or bullae. Some lesions may be more nodular in appearance. Central
immunocompromised patients related to Gram-negative bacteremia, necrosis and ulceration may develop in the later stages of formation
typically Pseudomonas aeruginosa. (Figure 107-3).
DISTRIBUTIO N
EPIDEMIO LO GY
are common.
-
compromised hosts with fever.
1
FIGURE 107-1 Ecthyma g ang re nosum on the arm of this 13-ye ar-old FIGURE 107-2 Ecthyma gangrenosum in the early stage of development.
b oy with acute mye log e nous le uke mia. This le sion is at a ve sicop ustu- Note the papular lesions surrounding a previous wound in this patient with
lar stag e of formation. Blood culture s g re w Pse ud omonas ae rug inosa. chemotherapy-induced neutropenia. (Used with permission from Camille
(Use d with p e rmission from Johanna Gold farb , MD.) Sabella, MD.)
PART 14
ECTHYMA GANGRENO SUM 625
DERMATO LO GY
SURGERY
abscess formation, or extensive disease.
REFERRAL
-
nosis or obtain biopsy specimens when required.
requiring surgical debridement.
PRO GNO SIS
FIGURE 107-3 Ecthyma g ang re nosum in a 14-ye ar-old g irl with acute a high mortality, ranging from 30 to 70 percent. 2
mye log e nous le uke mia. Note the ne crotic ap p e aring ce nte r of the
le sion and surround ing e rythe ma. Blood culture from this p atie nt g re w
Pse ud omonas ae rug inosa. (Use d with p e rmission from Camille Sab e lla,
MD. From Sab e lla C, Cunning ham RJ III. Inte nsive Re vie w of Pe d iatrics, FO LLO W-UP
4th e d ition. Lip p incott Williams Wilkins, p 453.)
LABO RATO RY TESTING the ecthymatous lesions have cleared with therapy and recovery of
neutropenia.
bacteriologic diagnosis.
PATIENT EDUCATIO N
IMAGING
and/ or characteristic lesion or rash warrants immediate medical

care.
PATIENT RESO URCES
Staphylococcus http://en.wikipedia.org/ wiki/ Ecthyma_gangrenosum.
aureus or group A streptococcus can be seen in otherwise healthy
children, older adults, or diabetics.
-
edema, and with suggestive occupational exposure. 1
Color Atlas of Pediatric Dermatology
associated with infection usually requiring biopsy diagnosis. 2008. http://www.accesspediatrics.com/ content/
6988322
and is not related to infection. Biopsy is required.
REFERENCES
MANAGEMENT
MEDICATIO NS
Pseudomonas
aeruginosa and tailored once a bacteriologic diagnosis is made. 1–3
SO R
Pseudomonas aeruginosa infections of intact
skin. Clin Infect Dis
3. Bodey GP. Dermatologic manifestations of infections in neutropenic
gram-negative infections in immunocompromised patients to provide
patients. Infect Dis Clin North Am
synergy and to prevent the development of resistance. 1,2 SO R
immunizations, and antimicrobial drugs. Clin Infect Dis

ticarcillin), cephalosporins (ceftazidime, cefepime), carbapenems
(imipenem, meropenem), uoroquinolones (cipro oxacin), and
aminoglycosides (amikacin, gentamicin). 2
PART 14
626 CHAPTER 108
DERMATO LO GY
SECTIO N 4 VIRAL
108 VARICELLA
PATIENT STO RY
A 12-year-old girl presents with a 3-day history of a body-wide pru-

ritic vesicular rash (Figure 108-1). The episode started 24 hours
before the rash with fever and malaise. The patient is diagnosed with
varicella and no antiviral medications are given. Acetaminophen or
ibuprofen are recommended for fever and comfort, avoiding aspirin
to prevent Reyes syndrome.
INTRO DUCTIO N
Varicella (chickenpox) is a highly contagious viral infection that can

become reactivated in the form of zoster.
EPIDEMIO LO GY
FIGURE 108-2 Chicke np ox in siste rs se e n b e fore the varice lla vaccine

was availab le . The g irls are fe e ling b e tte r now that the d ise ase is
re solving . (Use d with p e rmission from Richard P. Usatine , MD.)
susceptible individuals (Figure 108-2). 1
severe disease than normal children. illness in immunocompetent hosts. It occurs throughout the year in
temperate regions, but the incidence peaks in the late spring and
(Figure 108-3). In childhood, it is usually a benign, self-limited summer months.
2
The risk of infection and the case fatality rate are
signi cantly increased if a mother has symptoms less than ve days
prior to delivery. The time to delivery allows insuf cient time for
the development of maternal IgG and passive transfer of protection
to the fetus. 3 Postnatally acquired varicella that occurs beyond
4
incidence of chickenpox in the US was approximately 4 million cases
been a corresponding fourfold decrease in the number of cases of

FIGURE 108-1 Chicke np ox in a child . Note le sions in various stag e s
(p ap ule s, intact ve sicle s, p ustule s, and cruste d p ap ule s) cause d b y
multip le crop s of le sions. The ve sicle s are on a re d b ase . (Use d with
PART 14
VARICELLA 627
DERMATO LO GY
FIGURE 108-5 Varice lla on the le g of an infant afte r the le sions have
cruste d ove r. The p atie nt is p rob ab ly not contag ious at this time . (Use d
with p e rmission from the Unive rsity of Te xas He alth Scie nce s Ce nte r,
Division of De rmatolog y.)
Figure 108-4
Figure 108-5
Figure 108-6 -
FIGURE 108-3 Chicke np ox in a child . Note the wid e sp re ad d istrib u-
tion of the le sions. The hone y-cruste d le sion on the e ye b row sug g e sts
a se cond ary b acte rial infe ction (imp e tig o) has d e ve lop e d . (Use d with
Figure 108-6
FIGURE 108-4 De wd rop on a rose p e tal is the classic d e scrip tion of FIGURE 108-6 Hone y-cruste d le sions of sup e rinfe cte d varice lla. This
a varice lla ve sicle on a re d b ase . (Use d with p e rmission from Richard is imp e tig inize d chicke np ox cause d b y a se cond ary b acte rial infe ction
P. Usatine , MD.) (imp e tig o). (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
628 CHAPTER 108
DERMATO LO GY
(seen more frequently in immunosuppressed hosts) include bullous

varicella, purpura fulminans, and necrotizing fasciitis.
develops toward the end of the rst week of the exanthema. One
form, acute cerebellar ataxia, occurs mostly in children and is gen-
erally followed by complete recovery. A more diffuse encephalitis
most often occurs in adults and may produce delirium, seizures,
and focal neurologic signs. It has signi cant rates of long-term
neurologic sequelae and death.
-
ity rate. 7 It usually develops insidiously within a few days after the
rash has appeared with progressive tachypnea, dyspnea, and dry A
-
tive steroid therapy is controversial.
-
pressed individuals. It is frequently fatal.
DIAGNO SIS
CLINICAL FEATURES
-
drome of fever, malaise, or pharyngitis, followed in 24 hours by
B
the development of a generalized vesicular rash.
FIGURE 108-7 A. Varicella in a young g irl that was p reviously immu-
nized with the varice lla vaccine . Note the p ap ule s and p ustule s present.
more than 3 to 4 days. B. The b ack has small e ve nly distribute d p ustules. (Used with pe rmission
trunk, and extremities are common (Figure 108-7).
lesions have fully crusted by 7 days. over the extremities and on the trunk, and granular immunoglobulin
uncertain. For children or adults in which there is uncertainty

about previous disease and it is important to establish a quick diag-
nosis, a direct uorescent antibody test can be done on a scraping
of a lesion. In many laboratories, a result can be obtained within
24 hours (Figure 108-8).

-
ular uid provides a de nitive diagnosis, but is positive in less than
-
ity and is more rapid than tissue culture. Latex agglutination blood

FIGURE 108-8 Dire ct scrap ing of a le sion was p e rforme d and the vari-
ce lla virus was id e nti e d q uickly with a d ire ct uore sce nt antib od y te st.
whereas varicella is a disease of children. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
VARICELLA 629
DERMATO LO GY
-
erally restricted to the genital and oral areas. The vesicles of herpes pulmonary disease.
simplex tend to be more clustered in a group rather than the wide
PREVENTIO N
body. The lesions often have mild erythema and a yellowish color
SOR It is contraindicated in individuals allergic to gelatin or neo-
mycin and in immunosuppressed individuals (it is a live vaccine). In
entire body.
Practices recommended that all children younger than 13 years of
age should be routinely administered 2 doses of varicella-containing
MANAGEMENT
and the second dose at 4 to 6 years of age (i.e., before rst grade).
NO NPHARMACO LO GIC The second dose can be administered at an earlier age provided the
interval between the rst and second dose is at least 3 months. 12
powdered oatmeal baths.
FO LLO W-UP
and secondary bacterial infection.
MEDICATIO NS adults who are having no complications. All patients or parents

should report any respiratory or neurologic problems immediately.
use is associated with Reye syndrome in the setting of viral

infections. 8 SOR PATIENT EDUCATIO N
may lead to superinfection.
extremely hard to obtain at times and is indicated only for those

who are at risk for developing severe varicella, such as neonates The use of aspirin is associated with development of Reye syndrome,
(see the following section) and immunocompromised individuals. which may cause death.
Administration approved for treatment of varicella in healthy PATIENT RESO URCES

children. It should be given during the rst 24 hours of rash. 1 Chickenpox www.kidshealth.org/ parent/
infections/ skin/ chicken_pox.html.
Academy of Pediatrics issued a statement saying they did not Chickenpox www.nlm.nih.gov/
consider the routine administration of acyclovir to all healthy medlineplus/ chickenpox.html.
SO R

postexposure prophylaxis with Varicella-zoster immune globulin
Varicella (Chickenpox)
Vaccination www.cdc.gov/ vaccines/ vpd-vac/ varicella/
default.htm.
newborns:11 SO R
~ Infants who mothers have signs and symptoms of varicella within Slide Set: Overview
ve days before or two days after delivery. of VZV Disease &Vaccination for Health-care Professionals
~ Premature infants born at > 28 weeks of gestation who are www.cdc.gov/ vaccines/ vpd-vac/ shingles/
exposed during the neonatal period and whose mothers do not downloads/ VZV_clinical_slideset_Jul2010.ppt.
have signs of immunity.
~ Premature infants born at < 28 weeks of gestation or who weigh
REFERENCES
period, regardless of maternal history of varicella or vaccination.
Infect Dis Clin North Am.
treatment of varicella hepatitis and pneumonia, and may also be
useful in the treatment of immunosuppressed patients. SO R
PART 14
630 CHAPTER 108
DERMATO LO GY
J Infect Dis
behalf of the british society for the study of infection. J Infect.
zoster infections in pregnancy and the perinatal period. Pediatr
Infect Dis J. -
MMWR Morb MortalWkly Rep.

MMWR Morb MortalWkly Rep.
-
chickenpox. Pediatrics.
under an investigational new drug application expanded access
Arch Intern Med.
protocol. MMWR Morb MortalWkly Rep
N Engl J Med.
1377-1382.
PART 14
HERPES ZO STER 631
DERMATO LO GY
109 HERPES ZO STER

PATIENT STO RY
A 14-year-old boy presents with deep burning pain and a vesicular

eruption in a band starting at the left chest and ending just across the
midline of the back (Figure 109-1). The varicella-zoster virus (VZV)
leaves the dorsal root ganglion to travel down the spinal nerves to the
cutaneous nerves of the skin. The vesicles do cross the midline by a
few centimeters because the posterior primary ramus of the spinal
nerve includes a small cutaneous medial branch that reaches across
the midline. 1 The boy was treated with analgesics and an antiviral FIGURE 109-2 Close -up of he rp e s zoste r le sions. Note g roup e d ve si-
medication. The zoster healed with scarring. cle s on a re d b ase . (Use d with p e rmission from Richard P. Usatine , MD.)
groups account for the highest incidence of zoster. Approximately

INTRO DUCTIO N 4 percent of patients will experience a second episode of herpes zoster.5
Herpes zoster (shingles) is a syndrome characterized by a painful, seen in immunocompromised patients, including children who have
usually unilateral vesicular eruption that develops in a restricted received solid organ and hematologic transplants.
dermatomal distribution (Figures 109-1 and 109-2). 2,3

SYNO NYMS
Shingles. VZV, a latent infection is established in the sensory dorsal root

ganglia. Reactivation of this latent VZV infection results in herpes
zoster (shingles).
EPIDEMIO LO GY
virus only expresses a small number of viral proteins.

32 percent of persons in the US will experience zoster during their
lifetimes accounting for about 1 million cases annually.4 Older age
Once reactivated, virus spreads to other cells within the ganglion.
The dermatomal distribution of the rash corresponds to the sensory
elds of the infected neurons within the speci c ganglion. 3
for reactivation. 3
-
and altered central nervous system processing.
delay healing and cause scarring of the zoster lesions.

6
110, Zoster Ophthalmicus).

~
~ Meningitis caused by central extension of the infection.

~ Figure 109-3)
FIGURE 109-1 A 14-year-old b oy with severe case of herp es zoster in a includes the triad of ipsilateral facial paralysis, ear pain, and
thoracic distribution. (Used with pe rmission from Richard P. Usatine, MD.) vesicles in the auditory canal and auricle. 8
PART 14
632 CHAPTER 109
DERMATO LO GY
precipitated by movement or in response to non-noxious stimuli in

the affected dermatome for more than 1 month after the onset of
1000 person-years, and it occurs more commonly in individuals

older than age 60 years and in immunosuppressed individuals. 3 This
is rare in the pediatric population.
RISK FACTO RS
ZO STER3
-
logic transplantation.
DIAGNO SIS
CLINICAL FEATURES
FIGURE 109-3 Herpes zoster oticus (Ramsay Hunt syndrome) with the
classic p resentation of vesicles on the auricle. (Used with p ermission from signi cant pain or disability.
the Unive rsity of Texas Health Scie nces Center, Division of Dermatolog y.)
perception, hearing (tinnitus or hyperacusis), lacrimation, and symptom and can precede the rash.
vestibular function (vertigo) may occur.
~ Other rare complications may include acute retinal necrosis, several days to a dermatomal vesicular eruption. The rash starts as
transverse myelitis, encephalitis, leukoencephalitis, contralateral grouped vesicles or bullae, which evolve into pustular or hemor-
thrombotic stroke syndrome, and granulomatous vasculitis. 7 rhagic lesions within 3 to 4 days (Figures 109-1 to 109-6). The
including severe complications such as broader dermatomal involve-

ment (Figure 109-4), disseminated infection, visceral involve-
ment, pneumonitis, and/ or meningoencephalitis.
FIGURE 109-4 He rp e s zoste r in a 4-ye ar-old b oy with HIV d ise ase . FIGURE 109-5 He rp e s zoste r following the C6 d e rmatome in a young
Note multip le d e rmatome s are involve d . (Use d with p e rmission from othe rwise he althy b oy. Not all child re n that have zoste r are immuno-
Richard P. Usatine , MD.) comp romise d . (Use d with p e rmission from Emily Scott, MD.)
PART 14
HERPES ZO STER 633
DERMATO LO GY
pain before the vesicles are visible.
restricted to the perioral region, genital area, buttocks, and ngers
MANAGEMENT
NO NPHARMACO LO GIC
to reduce pain and itching. SO R
MEDICATIO NS
for comfort.
FIGURE 109-6 He rp e s zoste r in the thoracic d istrib ution in an African
child . An HIV se rolog y was ord e re d b e cause of the various risk factors
involve d . (Use d with p e rmission from Richard P. Usatine , MD.)
but may lead to faster resolution of the lesions if started within
48 hours of the onset of the rash. SO R
lesions typically crust in approximately a week, with complete
resolution within 3 to 4 weeks. 5 patients to speed recovery and to prevent dissemination. SO R
TYPICAL DISTRIBUTIO N PREVENTIO N

patients, but sometimes affects neighboring dermatomes. Rarely, a
few scattered vesicles located away from the involved dermatome as vaccine-associated herpes zoster in immunized patients or in the gen-
a result of release of VZV from the infected ganglion into the blood- eral population, and has led to an overall decrease in herpes zoster. 8
stream. 3
dermatome affected, the patient has disseminated zoster. The tho-
racic and lumbar dermatomes are the most commonly involved. FO LLO W-UP
Occasionally zoster will be seen on the extremities (Figure 109-5).
LABO RATO RY TESTING of the patient.

-
brospinal uid showing pleocytosis. PATIENT EDUCATIO N
(Figures 109-4 and 109-6).

from contact with open lesions.
compromised should be isolated from nonimmune individuals with
primary varicella infection (in which airborne spread is possible).
with herpes zoster are only at risk of developing primary varicella

and not herpes zoster.
papules with central umbilication caused by a pox virus. The PATIENT RESO URCES
lesions are more rm and unless irritated do not have a red base as Vaccine Information
Statements www.cdc.gov/ vaccines/ pubs/ vis/ .
- Shingles (Herpes Zoster) www.medinfo.co.uk/
matomes and usually has characteristic lesions in the webs of the conditions/ shingles.html.
Herpes Zoster (Shingles) www.skinsite.com/
info_herpes_zoster.htm.
entire body.
Shingles www.nlm.nih.gov/ medlineplus/
PART 14
634 CHAPTER 109
DERMATO LO GY

Shingles http://emedicine.medscape.com/
article/ 218683.
8
MMWR Recomm Rep.
Am Fam Physician
http://www.aafp.org/ afp/ 20000415/ 2437.html.
(shingles) and postherpetic neuralgia. Am Fam Physician.
Red Book —http:// 2437-2444, 2447-2448.
aapredbook.aappublications.org/ content/ current.
study of the incidence and complication rates of herpes zoster
before zoster vaccine introduction. Mayo Clin Proc.
REFERENCES
West J Med.
humoral immunity in the pathogenesis of recurrent herpes viral
N Engl infections in patients with lymphoma. J Clin Invest.
J Med.
Ann Neurol.
of herpes zoster and its complications. Neurology.
S41-S46.
PART 14
ZO STER O PHTHALMICUS 635
DERMATO LO GY
110 ZO STER O PHTHALMICUS

PATIENT STO RY
This 5-year-old girl developed redness and pain on the right side of
her forehead. Later a vesicular rash developed (Figure 110-1). She
was diagnosed with herpes zoster involving the rst (ophthalmic)
branch of the trigeminal nerve. Note the vesicles and bullae on the
forehead and eyelid and the crust on the nasal tip (Hutchinson sign).
Fortunately, she did not have ocular complications and her case of
FIGURE 110-2 An HIV-positive Hispanic man with painful herpes zoster of
zoster fully healed with systemic acyclovir and acyclovir eye ointment. his right forehead. His right eye was red, painful, and very sensitive to light.
(Used with permission from Paul Comeau.)
INTRO DUCTIO N reactivation of the latent virus in the trigeminal ganglia may result in
herpes zoster ophthalmicus (HZO) (Figures 110-1 to 110-5).
Herpes zoster is a common infection caused by varicella-zoster virus,
the same virus that causes chickenpox. Reactivation of the latent virus SYNO NYMS
in neurosensory ganglia produces the characteristic manifestations of
herpes zoster (shingles). Herpes zoster outbreaks may be precipitated
Ocular herpes zoster.
by aging, poor nutrition, immunocompromised status (Figures 110-2
to 110-4), physical or emotional stress, and excessive fatigue. Although
zoster most commonly involves the thoracic and lumbar dermatomes, EPIDEMIO LO GY
8 to 56 percent. 1
of disease.
vision loss (Figures 110-2 to 110-4), and disabling pain. Early
FIGURE 110-1 A 5-ye ar-old g irl with he rp e s zoste r involving the FIGURE 110-3 Acute zoster ophthalmicus of the patient in Figure 110-2.
op hthalmic b ranch of the trig e minal ne rve . Note the ve sicle s and b ullae Note the conjunctival injection, corneal punctation (keratitis), and a small
on the fore he ad and e ye lid and the crust on the nasal tip (Hutchinson layer of blood in the anterior chamber (hyphema). A diagnosis of anterior
sig n). Fortunate ly, she d id not have ocular comp lications and he r case uveitis was suspected based on the irregularly shaped pupil, the hyphema,
of zoste r fully he ale d with oral acyclovir and acyclovir e ye ointme nt. and ciliary ush. A slit-lamp examination con rmed the anterior uveitis
(Use d with p e rmission from Amor Khache moune , MD.) (iritis). (Used with permission from Paul Comeau.)
PART 14
636 CHAPTER 110
DERMATO LO GY
S upra orbita l n.
S upra trochle a r n.
Infra orbita l n.
Exte rna l
Na s a l n. (V2)
Exte rna l Na s a l Br. of
Na s ocilia ry n. (V1)
FIGURE 110-4 Corne al scarring and conjunctival inje ction of the same
p atie nt in Fig ure 110-2 6 months late r afte r b e ing lost to follow-up . FIGURE 110-6 Diag ram d e monstrating the se nsory d istrib ution of the
(Use d with p e rmission from Paul Come au.) trig e minal ( fth cranial) ne rve , and major p e rip he ral ne rve s of the rst
(o p hthalmic) d ivision that may b e involve d with he rp e s zoste r op hthal-
micus. The infraorb ital ne rve from the se cond d ivision is also shown.
diagnosis is important to prevent progressive corneal involvement (Use d with p e rmission from E.J. Maye aux, Jr., MD.)
and potential loss of vision. 2
lesions at the dermatomes of both nasociliary branches (at the tip, the
of the trigeminal ( fth cranial) nerve innervates the globe
side, and the root of the nose) was invariably associated with the
(Figure 110-6), the most serious ocular involvement develops 3
if this branch is involved.
(Figure 110-3). On slit-lamp examination, it appears as multiple,

sign) has been thought to be a clinical predictor of ocular involve-
ment via the external nasal nerve (Figures 110-1 and 110-5). The
They may either resolve or progress to dendrite formation. Herpes
zoster virus dendrites form branching or frond-like patterns that
and corneal denervation with relative risks of 3.35 and 4.02,
lead to anterior stromal corneal in ltrates.
and is characterized by multiple ne granular in ltrates in the ante-

rior corneal stroma. The in ltrates probably arise from antigen–
antibody reaction and may be prolonged and recurrent. 4
Figure 110-3). The
pressure elevation. The course of disease may be prolonged, espe-

cially without timely treatment, and may lead to glaucoma and
cataract formation.
necrosis. Symptoms include blurred vision and/ or pain in one or

both eyes and signs include peripheral patches of retinal necrosis
-
is observed in 1/ 3 of patients, but may be as high as 70 percent in

patients with untreated disease. Treatment includes long courses of
oral and intravenous acyclovir, and corticosteroids. 5
often results in corneal anesthesia.

FIGURE 110-5 He rp e s zoste r op hthalmicus causing e ye lid swe lling
and p tosis. Note the p ositive Hutchinson sig n. (Use d with p e rmission Staphylococcus aureus, is a common
from Richard P. Usatine , MD.) complication of HZO.
PART 14
ZO STER O PHTHALMICUS 637
DERMATO LO GY
RISK FACTO RS
immunode ciency virus infection, have a much higher risk of MANAGEMENT

developing zoster complications, including HZO.
MEDICATIO NS
DIAGNO SIS
CLINICAL FEATURES orally 5 times daily for 7 to 10 days or 10 mg/ kg intravenously

every 8 hours for 7 to 10 days). 7 SO R
headache, and malaise that may start up to 1 week before the rash
appears.
response and control immune keratitis and iritis. 1,2 SO R
the head, and/ or nose may precede or follow the prodrome. The -
rash starts with erythematous macules along the involved derma- pine) to treat the ciliary muscle spasm that is painful in iritis. SOR
tome, then rapidly progresses over several days to papules, vesicles
and pustules (Figures 110-5 to 110-5). The lesions rupture and secondary infection of the eye. SO R
analgesics.
occur (Figure 110-5). because of their corneal toxicity. SO R

- S. aureus, may develop and should be
ment (keratitis). 1 The epithelial keratitis may feature punctate or treated with broad-spectrum topical and/ or systemic antibiotics.
dendritiform lesions (Figure 110-3
involvement can lead to corneal scarring (Figure 110-4). 6 REFERRAL O R HO SPITALIZATIO N
patients and can be associated with hyphema and an irregular pupil eye involvement is seen or suspected.
(Figure 110-3). 1
vision, severe symptoms, immunosuppression, involvement of mul-
tiple dermatomes, or with signi cant facial bacterial superinfection.
(which includes the supraorbital, supratrochlear, and external nasal PRO GNO SIS
involved, and 50 to 72 percent of patients experience direct eye

involvement (Figure 110-6). 1 feature of HZO.
-
the trigeminal distribution, a minority of patients may have only cations. Systemic antiviral therapy can lower the emergence of
cornea ndings. complications. 10,11
DIFFERENTIAL DIAGNO SIS FO LLO W-UP
should be informed that they should present for medical care with
any zoster involving the rst (ophthalmic) division of the trigeminal
nerve or the eye itself.
PATIENT EDUCATIO N
PART 14
638 CHAPTER 110
DERMATO LO GY
-
- micus. Ophthalmology. 1985;92(3):316-324.
factors, clinical presentation, and morbidity. Ophthalmology.

PATIENT RESO URCES 2008;115(2 Suppl):S3-S12.
What You Should Know About HZO— Clinical Features ofVaricella-ZosterVirus Infection:
www.aafp.org/ afp/ 2002/ 1101/ p1732.html. Herpes Zoster. http://www.uptodate.com/ contents/ clinical-
Eye Herpes (Ocular Herpes)— manifestations-of-varicella-zoster-virus-infection-herpes-zoster,
www.eyemdlink.com/ Condition.asp?ConditionID=223. accessed September 3, 2012.
PRO VIDER RESO URCES herpes zoster infection. A practical guide. Trans Ophthalmol Soc
U K.
Herpes Zoster Ophthalmicus—http://emedicine
.medscape.com/ article/ 783223. N Engl
J Med. 2002;347(5):340-346.
Am Fam
Physician. 2002;669:1723-1730—http://www.aafp.org/
afp/ 20021101/ 1723.html. of herpes zoster and its complications. Neurology. 1995;45
(12; 8):S41-S46.
REFERENCES herpes simplex virus and varicella zoster virus uveitis: a clinical
Neurology. 1995; evaluation and comparison. Ophthalmology. 2002;109(8):
45(12;8):S50-S51. 1532-1537.
- immunocompetent patients with herpes zoster ophthalmicus.

virals made a difference? Arch Ophthalmol. 2003;121(3):386-390. Acta Ophthalmol Scand. 2003;81(3):216-220.
Graefes
Arch Clin Exp Ophthalmol. 2003;241(3):187-191.
PART 14
MEASLES 639
DERMATO LO GY
111 MEASLES
Luke Baud oin, MD
PATIENT STO RY
An 18-month-old boy, who is visiting family in San Antonio with his

parents from Central America, presents with a 3-day history of fever,
malaise, conjunctivitis, coryza, and cough. He had been exposed to a
child with similar symptoms approximately 2 weeks prior. A day
before, he developed a maculopapular rash that blanches under pres-
sure (Figures 111-1 and 111-2). His shot records are unavailable but
his mother states that his last vaccine was before age 1 year. He is
diagnosed with measles and supportive care is provided.
INTRO DUCTIO N
Measles is a highly communicable, acute viral illness that is still one FIGURE 111-2 The typ ical me asle s rash on the trunk. (Use d with
the most serious infectious diseases in human history. Until the p e rmission from the Unive rsity of Te xas He alth Scie nce s Ce nte r, Division
introduction of the measles vaccination, it was responsible for mil- of De rmatolog y.)
lions of deaths worldwide annually. Although the epidemiology of
this disease makes eradication a possibility, the ease of transmission
EPIDEMIO LO GY
and the low percentage of non immunized population that is
required for disease survival have made eradication of measles
extremely dif cult.
have two measles-mumps-rubella (MMR) vaccines before starting
kindergarten.
annual incidence began to increase with most cases linked to interna-

tional travel of inadequately vaccinated Americans to endemic areas.
Incomplete vaccination rates facilitate the spread once the virus is
imported to the US causing clusters of periodic outbreaks.1
member countries of the World Health Assembly. 2

83 percent of the world’s children received one dose of measles
vaccine by their rst birthday through routine health services—up
3
Health Organization have renewed their commitment to eliminate
percent of the population receives two doses of the MMR vaccine.

FIGURE 111-1 Typ ical me asle s rash that b e g an on the face and
b e came con ue nt. (Use d with p e rmission from the Unive rsity o f Te xas -
He alth Scie nce s Ce nte r, Division of De rmatolog y.) myxoviridae, genus Morbillivirus (hence the name, morbilliform rash).
PART 14
640 CHAPTER 111
DERMATO LO GY
FIGURE 111-3 Me asle s in an Ethiop ian infant d uring a me asle s

outb re ak. The rash is faint b ut he r coug h is p romine nt and sub costal
re tractions are se e n d uring this coug h. She also has rhinorrhe a and
conjunctivitis. (Use d with p e rmission from Richard P. Usatine , MD.)
commonly causes outbreaks.
FIGURE 111-4 Kop lik’s sp ots occur 1 to 2 d ays b e fore to 1 to 2 d ays

afte r the cutane ous rash. The ir p re se nce is consid e re d to b e p athog no-
entry of the virus into the respiratory mucosa with local viral monic for me asle s, and ap p e ar as p unctate b lue -white sp ots on the
b rig ht re d b ackg round of the oral b uccal (che e k) mucosa. (Use d with
tissues, and then throughout the body through the bloodstream. p e rmission from the Ce nte rs for Dise ase Control and Pre ve ntion.)
-
toms including fever, malaise, anorexia, conjunctivitis, coryza, and
cough (Figure 111-3
mucosal in ammation from viral infection of epithelial cells.
Patients may develop Koplik’s spots, which are small whitish, gray-
ish, or bluish papules with erythematous bases that develop on the
buccal mucosa usually near the molar teeth (Figure 111-4
prodrome usually lasts for 2 to 3 days.
Figures 111-1, 111-2, and 111-5) is
maculopapular and blanches under pressure. Clinical improvement
the rash rst appears, it begins to fade to a brownish color which is
associated complication.
cases. Measles reinfection occasionally occurs, but it is extremely rare.
days after exposure, and often present with a dry cough and pleuritic
purpuric, or urticarial. Patients may develop respiratory distress,

peripheral edema, hepatosplenomegaly, paresthesias, or hyperesthesia.
-
ing the classic childhood illness and a less intense form in persons FIGURE 111-5 A South Ame rican child with an ad vance d me asle s
with suboptimal levels of anti measles antibodies. e xanthe m. (Use d with p e rmission from Eric Kraus.)
PART 14
MEASLES 641
DERMATO LO GY
lymphadenopathy, splenomegaly, laryngotracheobronchitis (croup), with the prodrome and Koplik spots, is usually adequate to make a
giant cell pneumonia, and measles inclusion body encephalitis in
immunocompromised patients. measles is a blood test for measles speci c IgM antibodies. By waiting
young, those with vitamin A de ciency, and in pregnant women. until the third day of the rash, a false-negative IgM result can be
avoided. 1
encephalomyelitis is a demyelinating disease that presents during
the recovery phase, and is thought to be caused by a postinfectious TYPICAL DISTRIBUTIO N
autoimmune response. 6
headache, neck stiffness, ataxia, mental status changes, and seizures.
-
sion is characteristic of measles.
rate, and residual neurologic abnormalities are common. 6
neurological degenerative disease that may represent a persistent DIFFERENTIAL DIAGNO SIS
infection of the central nervous system with a variant of the virus.
Patients develop neurologic can be confused with a URI except that signi cant fever is typically
symptoms, myoclonus, dementia, and eventually accidity or present with measles infection.
decorticate rigidity.
- mucosa caused by benign ectopic sebaceous glands, may be mistaken
tion. Premature births may be more common in gravid women
with measles, but there is no clear evidence of teratogenicity.
- include Rocky Mountain spotted fever, infectious mononucleosis,
scarlet fever, Kawasaki disease, toxic shock syndrome, dengue
but can induce placental damage which may lead to fetal death.
Major perinatal risks are also miscarriage and prematurity. When Drug Reactions).
measles occurs in late pregnancy, congenital infection is possible. 8
infection by the intensity of the measles rash, its subsequent brownish

RISK FACTO RS coloration, the classic prodrome, and the severe disease course.
MANAGEMENT
NO NPHARMACO LO GIC
measles should be immediately reported to the local or state

department of health.
MEDICATIO NS
to all susceptible persons, or they should be removed from the out-

break setting for a minimum of 3 weeks. SO R
DIAGNO SIS -
cially important in patients in whom the risk of complications of
Measles is a distinct disease characterized by fever, malaise, conjunc- measles is higher such as pregnant women, children younger than
tivitis, coryza, cough, rash, and Koplik’s spots. 1 year of age, and immunocompromised patients. SO R
CLINICAL FEATURES children with acute measles, regardless of their country of resi-
Koplik’s spots appear during the prodrome phase and are pathogno-
PART 14
642 CHAPTER 111
DERMATO LO GY
~ ~
~ ~
~ ≥12 months.
~
to patients with clinical signs and symptoms of vitamin A de ciency.1 FO LLO W-UP
SO R
REFERRAL O R HO SPITALIZATIO N disease or complications.
PATIENT EDUCATIO N
disseminated encephalomyelitis.
and poor oral intake. children and adults, pregnant women, and immunocompromised
Refer to ophthalmology if there are changes in vision as measles

keratitis can lead to permanent scarring and blindness.
until respiratory symptoms resolve.
PREVENTIO N PATIENT RESO URCES

http:// kidshealth.org/ parent/
infections/ bacterial_viral/ measles.html# cat20028.
to all susceptible persons, or they should be removed from the Protecting Your Child Against Measles, Mumps, Rubella, and
outbreak setting for a minimum of 3 weeks. www.cdc.gov/ vaccines/ vpd-vac/ combo-
vaccines/ mmrv/ vacopt-factsheet-parent.htm.
www.cdc.gov/
receive 1 dose of MMR prior to travel (even though the rst dose is Features/ Measles/ .
given prior to 12 months of age should not be counted as part of

the routine vaccination. www.cdc.gov/ vaccines/
- vpd-vac/ should-not-vacc.htm# mmrv.
seas should receive the second MMR vaccine at least 28 days apart
from the initial vaccination. 1 PRO VIDER RESO URCES
www.nlm.nih.gov/ medlineplus/
measles.html.
// www.cdc.gov/ measles/ index.html.
PRO GNO SIS

www.cdc.gov/ vaccines/ pubs/
- surv-manual/ chpt07-measles.html.
fading of the eruption.
complications. Complications of measles are more common among www.cdc.gov/ vaccines/ pubs/ pinkbook/ meas.html.
older. Centers for Disease Control and Prevention (CDC) reported

6 REFERENCES
~ Diarrhea—8 percent. 1. Centers for Disease Control and Prevention. Manual for the Surveil-
~ lance of Vaccine-Preventable Diseases
~ Pneumonia—6 percent.
~
PART 14
MEASLES 643
DERMATO LO GY
2. World Health Organization. Global eradication of measles: report by

the Secretariat —clinical and immunologic studies. N Engl J Med
-
-
immunization than was previously recognized. J Infect Dis.
Presse Med
who is responsible for the failure to vaccinate? Clin Microbiol Infect.
J Infect.
in immunocompromised patients. JAMA

PART 14
644 CHAPTER 112
DERMATO LO GY
112 FIFTH DISEASE

John H. Hayne s, Jr., MD
Mathe w Prine , MD
PATIENT STO RY
A 2-year-old boy presents with mild u-like symptoms and a rash.

He had an erythematous malar rash and a “lace-like” erythematous
rash on the trunk and extremities ( and ). The
“slapped cheek” appearance made the diagnosis easy for fth disease.
The parents were reassured that this would resolve spontaneously.
The child returned to daycare the next day.
FIGURE 112-2 Classic fth d ise ase “lace -like ” e rythe matous rash
on the trunk and e xtre mitie s. (Use d with p e rmission from Richard P.
Usatine , MD.)
INTRO DUCTIO N
Fifth disease is also commonly referred to as erythema infectiosum.

The name derives from the fact that it represents the fth of the 6 SYNO NYMS
common childhood viral exanthems described. Transmission occurs
through respiratory secretions, possibly through fomites, and paren- Erythema infectiosum, parvovirus B19 infections, slapped cheek disease.
terally via vertical transmission from mother to fetus and by transfu-
sion of blood or blood products.
EPIDEMIO LO GY
Fifth disease is common throughout the world. Antiparvovirus B19

immunoglobulin (Ig) G is found equally among Americans, Asians,
and Europeans. 1 The only known host for B19 is humans.
Most individuals become infected during their school-age years.
Fifth disease is very contagious via the respiratory route and occurs
more frequently between late winter and early summer. Up to 60
percent of the population is seropositive for antiparvovirus B19 IgG
by age 20 years. 2 In some communities, there are cycles of local
epidemics every 4 to 10 years. 3
Thirty to forty percent of pregnant women lack measurable IgG
to the infecting agent and are, therefore, presumed to be
susceptible to infection. Infection during pregnancy can in some
cases lead to fetal death.
Fifth disease is a mild viral febrile illness with an associated rash

caused by parvovirus B19 ( ).
Most persons with parvovirus B19 infection never develop the clin-
ical picture of fth disease.
Parvovirus B19 infects rapidly dividing cells and is cytotoxic for
erythroid progenitor cells.
After initial infection, a viremia occurs with an associated precipi-
tous drop in the reticulocyte count and anemia. The anemia is
FIGURE 112-1 Classic e rythe matous malar rash with “slap p e d che e k”
ap p e arance of fth d ise ase (e rythe ma infe ctiosum). (Use d with p e rmis-
rarely clinically apparent in healthy patients, but can cause serious
sion from Richard P. Usatine , MD.) anemia if the red blood cell count is already low. Patients with a
PART 14
FIFTH DISEASE 645
DERMATO LO GY
FIGURE 112-3 Transmission e le ctron microscop y of p arvovirus B19.

(Use d with p e rmission from the Ce nte rs for Dise ase Control and
Pre ve ntion.)
chronic anemia such as sickle cell or thalassemia may experience a

transient aplastic crisis. 4
Vertical transmission can result in congenital infection if a woman FIGURE 112-4 Classic e rythe matous malar rash with “slap p e d che e k”
ap p e arance of fth d ise ase in an 18-month-old child . (Use d with
becomes infected during her pregnancy. 5 The risk of a fetal loss or p e rmission from Richard P. Usatine , MD.)
hydrops fetalis is greatest (loss rate of 11%) when the infection
occurs within the rst 20 weeks of gestation. 6
recur over several weeks in association with exercise, sun expo-
sure, bathing in hot water, or stress.
RISK FACTO RS
Exposure to infected children. Laboratory studies are not usually needed as the diagnosis can be
Reception of blood products. made by history and physical exam. Serum B19-speci c IgM may
be ordered in pregnant women exposed to fth disease. After
3 weeks, infection is also indicated by a 4-fold or greater rise in
DIAGNO SIS serum B19-speci c IgG antibody titers.
Patients with symptoms of anemia, a history of increased red blood
CLINICAL FEATURES—HISTO RY AND PHYSICAL cell (RBC) destruction (e.g., sickle cell disease, hereditary
Fifth disease is usually a biphasic illness, starting with upper respira-
tory tract symptoms that may include headache, fever, sore throat,
pruritus, coryza, abdominal pain, diarrhea, and/ or arthralgias.
These constitutional symptoms coincide with onset of viremia and
they usually resolve for about a week before the next stage begins.
Associated hematologic abnormalities may be seen with this stage.
The second stage is characterized by a classic erythematous malar
rash with relative circumoral pallor or “slapped cheek” appearance
in children ( and ) followed by a “lace-like”
erythematous rash on the trunk and extremities (
and ). Arthropathy affecting the hands, wrists, knees, and
ankles may precede the development of a rash in adults. The course
is usually self-limited.
The rash starts with the classic slapped-cheek appearance (
and ). Then an erythematous macular rash occurs on
the extremities. After several days, the extremities rash fades into FIGURE 112-5 Classic re ticular e rup tion on the e xtre mitie s. (Use d with
a lacy pattern ( and ). The exanthem may p e rmission from Je ffre y Me ffe rt, MD.)
PART 14
646 CHAPTER 112
DERMATO LO GY
spherocytosis), or with decreased RBC production (e.g., iron-de -

ciency anemia) should be tested to determine the degree of anemia. PRO GNO SIS
Pregnant women who are exposed to or have symptoms of parvo-
The rash of erythema infectiosum usually is self-limiting, but may
virus infection should have serologic testing. Prior to 20 weeks’
last weeks to months with exacerbations.
gestation, women testing positive for acute infection (i.e., positive
IgM and negative IgG) should be counseled concerning the low risk Aplastic anemia usually lasts up to 2 weeks but may become
of fetal loss and congenital anomalies. There are currently no chronic. The onset of erythema infectiosum rash usually indicates
proven associations with congenital abnormalities, but there is low that reticulocytosis has returned and aplastic crisis will not occur.
risk of fetal loss. 7
IMAGING PATIENT EDUCATIO N

If serologic testing in pregnant women is positive, some experts
recommend that the patient should receive ultrasounds to look for Explain to parents that the disease is usually self-limited. Normal
signs of fetal hydrops. Intrauterine transfusion is currently the only activities may be pursued as tolerated with sun protection or
effective treatment to alleviate fetal anemia. 8 avoidance.
Children who present with the classic ndings of fth disease are
past the infectious state and can attend school and day care.
DIFFERENTIAL DIAGNO SIS During pregnancy, a woman who has an acute infection prior to
20 weeks’ gestation should be counseled concerning the low risks
Scarlet fever presents as a ne papular (sandpaper) rash in associa- of fetal loss and congenital anomalies. Beyond 20 weeks’ gestation,
tion with a Streptococcus infection (see Chapter 28, Scarlet Fever and some physicians recommend repeated ultrasounds to look for signs
Strawberry Tongue). of fetal hydrops.
Allergic-hypersensitivity reactions (erythema multiforme, erythema
nodosum and cutaneous vasculitis) often involve the arms and legs PATIENT RESO URCES
but rarely affect the face (see Section 12: Hypersensitivity Centers for Disease Control and Prevention (CDC). Parvovirus
Syndromes and Drug Reactions). B19 and Fifth Disease—
Lyme disease presents with an expanding rash with central clearing .
(see Chapter 183, Lyme Disease). Centers for Disease Control and Prevention (CDC). Pregnancy
Measles produces a blanching rash that begins on the face and and Fifth Disease—
spreads centrifugally to involve the neck, trunk, and nally the .
extremities. It tends to become more con uent instead of lacy eMedicine health. Fifth Disease—
with time (see Chapter 111, Measles). .
PubMed Health. Fifth Disease—
.
MANAGEMENT
NO NPHARMACO LO GIC
Medscape. Fifth Disease or Erythema Infectiosum—
Fifth disease is usually self-limited and requires no speci c therapy.
http:/ .
See the following “Patient Education” section for further informa-
tion about parvovirus B19 infections in pregnancy.
MEDICATIO NS REFERENCES
NSAID or acetaminophen therapy may alleviate fevers and arthralgias. 1. Young NS, Brown KE. Parvovirus B19. N Engl J Med. 2004;
Transient aplastic anemia occurs in individuals who have baseline 350(6):586-597.
anemia and may be severe enough to require transfusion until the 2. American Academy of Pediatrics. Red Book: 2006 Report on the
patient’s red cell production recovers. Committee of Infectious Diseases. 2006:484-487.
3. Naides SJ. Erythema infectiosum ( fth disease) occurrence in
PREVENTIO N Iowa. Am J Public Health. 1988;78(9):1230-1231.
4. Serjeant GR, Serjeant BE, Thomas PW, et al. Human parvovirus
Because it is spread through respiratory secretions and possibly infection in homozygous sickle cell disease. Lancet. 1993;
through fomites, good hand sanitation and infection-control tech- 341(8855):1237-1240.
niques are recommended. 5. Jordan JA. Identi cation of human parvovirus B19 infection in
Infected individuals should avoid excessive heat or sunlight, which idiopathic nonimmune hydrops fetalis. Am J Obstet Gynecol. 1996;
can cause rash are-ups. 174(1 Pt 1):37-42.
PART 14
FIFTH DISEASE 647
DERMATO LO GY
6. Enders M, Weidner A, Zoellner I, et al. Fetal morbidity and fetal hydrops. J Infect Dis. 2008;197:58. http:// www.ncbi.nlm.
mortality after acute human parvovirus B19 infection in preg- nih.gov/ pubmed?term= 20729141.
nancy: prospective evaluation of 1018 cases. Prenat Diagn. 2004; 8. de Jong EP, de Haan TR, Kroes ACM, et al. Parvovirus B19
24(7):513-518. infection in pregnancy. J Clin Virol. 2006;36(1):1-7.
7. Enders M, Weidner A, Rosenthal T, et al. Improved diagnosis of
gestational parvovirus B19 infection at the time of nonimmune
PART 14
648 CHAPTER 113
DERMATO LO GY
113 HAND FO O T MO UTH

SYNDRO ME
Ste ve n N. Bie nve nu, MD
PATIENT STO RY
A 4-year-old boy presents to a free clinic for homeless families with a

low-grade fever and lesions on his hands and feet ( and
). The mother notes that two other kids in the transitional living
center also have a similar rash. Upon further investigation, mouth
lesions are noted ( ). The mother is reassured that this is
nothing more than hand, foot, and mouth disease and will go away on FIGURE 113-2 Foot of the b oy in Fig ure 113-1. Le sions te nd to b e on
its own. Treatment includes uids and antipyretics as needed. p alms and sole s, ng e rs, and toe s. (Use d with p e rmission from Richard
P. Usatine , MD.)
INTRO DUCTIO N
Hand, foot, and mouth disease (HFMD) is a viral illness that may ETIO LO GY AND PATHO PHYSIO LO GY
affect humans and some animals, and presents with a distinct clinical
presentation. The disease occurs worldwide. In 2011 and 2012, HFMD is most commonly caused by members of the enterovirus
an outbreak of a much more severe and atypical form occurred in genus, especially coxsackie viruses. Epidemic infections in the US
the US. are usually caused by coxsackievirus A16, and less commonly by
other coxsackievirus A strains, coxsackievirus B, or enterovirus
71. 2,3 Sporadic cases occur caused by other coxsackie viruses.
EPIDEMIO LO GY HFMD is caused by a number of different enteroviruses around the
world with different characteristics, but until recently outbreaks of
Epidemics tend to occur every 3 years worldwide. In temperate an A6 strain have not been experienced in the US. Most HFMD
climates, the peak incidence is in late summer and early fall. cases worldwide are due to coxsackievirus A16. 4,5
HFMD generally has a mild course, but it may be more severe in Outbreaks of strains of EV71 enterovirus producing large epidem-
infants and young children. 1,2 ics of HFMD with signi cant morbidity and mortality that have
There is no racial or gender predilection. Most cases affect children occurred recently in east and southeast Asia have not been seen in
younger than 10 years old. 3 the US. 5
FIGURE 113-1 Typ ical at ve sicular le sions on the hand of a 4-ye ar-old FIGURE 113-3 Mouth le sions in same b oy ap p e ar as small ulce rs
b oy with hand , foot, and mouth d ise ase . (Use d with p e rmission fro m on the lip s and oral mucosa. (Use d with p e rmission from Richard P.
Richard P. Usatine , MD.) Usatine , MD.)
PART 14
HAND FO O T MO UTH SYNDRO ME 649
DERMATO LO GY
In the fall of 2011 and early winter of 2012, 63 cases of apparent,

but more severe HFMD from four US states were reported to the
CDC. PCR and gene sequencing detected an A6 strain of coxsacki-
evirus in 74 percent of clinical specimens from 38 cases. 4 Cases of
this atypical, severe form of HFMD have now likely been diagnosed
throughout much of North America. 4,6,7
Coxsackievirus infections are highly contagious. Transmission occurs
via aerosolized droplets of nasal and/ or oral secretions via the fecal–
oral route, or from contact with skin lesions. During epidemics, the
virus is spread from child to child and from mother to fetus.
The incubation period averages 3 to 6 days. Initial viral implanta-
tion is in the GI tract mucosa, and it then spreads to lymph nodes
within 24 hours. Viremia rapidly ensues, with spread to the oral
mucosa and skin. Rarely, aseptic meningitis may occur. Usually by
day 7, a neutralizing antibody response develops, and the virus is FIGURE 113-4 A o ne -ye ar-old male with co n rme d Coxsackie virus A6
cleared from the body. HFMD. His te mp e rature re ache d 103.8 d e g re e s, and a varie ty of le sions
are visib le as we ll as Koe b ne r p he nome non ne ar the e lb ow e xure .
HFMD may also result in neurologic problems such as a polio-like (Use d with p e rmission from Ann Pe tru, MD and Julie Kulhanjian, MD.)
syndrome, aseptic meningitis, encephalitis, acute cerebellar ataxia,
acute transverse myelitis, Guillain-Barré syndrome, and benign
intracranial hypertension. Rarely, cardiopulmonary complications maculovesicular as with the milder A16 form, but may coalesce
such as myocarditis, interstitial pneumonitis, and pulmonary edema ( ). Others may be vesiculobullous ( )
may occur. 8,9 and may drain, or simply papular ( ), or maculopapu-
lar and ulcerative ( . 4,6,7
Infection in the rst trimester of pregnancy may lead to spontane-
ous abortion or intrauterine growth retardation. Cervical or submandibular lymphadenopathy may be present.
RISK FACTO RS Skin lesions of the milder form (A16) develop on the hands, feet,
and/ or buttocks and oral lesions may involve the palate, buccal
Attendance at child care centers.
Contact with HFMD.
Large family.
Rural residence.
DIAGNO SIS
CLINICAL FEATURES
A prodrome lasting 12 to 36 hours is usually the rst sign of
HFMD, and it usually consists of typical general viral infection
symptoms with anorexia, abdominal pain, and sore mouth. Lesions
are present for 5 to 10 days, and heal spontaneously in 5 to 7 days.
Fever is usually mild.
Atypical, severe HFMD (A6) may be associated with fever as high
as 103 to 105 degrees Fahrenheit, produce much more extensive,
denser rash in more locations, with greater malaise and likelihood
of anorexia, dehydration, and pain. 4
Each lesion in typical HFMD begins as a 2- to 10-mm erythematous
macule, which develops a gray, oval vesicle that parallels the skin
tension lines in its long axis ( and ). The oral
lesions ( ) begin as erythematous macules, evolve into
2- to 3-mm vesicles on an erythematous base, and then rapidly
become ulcerated. The vesicles are painful and may interfere with
eating. They are not generally pruritic.
FIGURE 113-5 Ve siculob ullous le sions of le ft hand of child in Fig ure
(A6) HFMD may produce lesions that are very protean 113-4. Bullous le sions may rup ture . (Use d with p e rmission from Ann
in their character and evolution. Early lesions are usually Pe tru, MD and Julie Kulhanjian, MD.)
PART 14
650 CHAPTER 113
DERMATO LO GY
FIGURE 113-6 A 15-month-old female with con rme d A6 infe ction who
d e monstrate d wid e sp re ad d ise ase and multip le le sion typ e s. (Use d
with p e rmission from Ann Pe tru, MD.)
mucosa, gingiva, and/ or tongue. Lesions on the hands and feet are
largely limited to the palmar and plantar surfaces.
Atypical, severe HFMD (A6) produces a much more extensive
rash, and may include the lips and perioral area of the face FIGURE 113-8 A 16-mo nth-old male with clinically d iag no se d HFMD,
( and ), arms, legs, knees, genitalia, trunk like ly A6 strain d ise ase . This child had typ ical p e rioral / facial, b uttocks
( ), buttocks ( ), perianal area, and and le g involve me nt. (Use d with p e rmission from Storie sofg rand e ur.
b log sp ot.com.)
distinctively the dorsal areas of the hands ( , ,
and ) and feet as well as palmar and plantar surfaces.
Distribution can be quite variable, however. 4,7
Laboratory tests are usually not needed for diagnosis. Aphthous stomatitis presents as single or multiple painful ulcers
in the mouth without skin eruptions (see Chapter 40, Aphthous
BIO PSY Ulcer).
Biopsy is not needed. Chickenpox presents with body-wide vesicular lesions in multiple
crops (see Chapter 108, Chickenpox).
Erythema multiforme demonstrates body-wide target lesions that
also involve the skin of the palms and soles (see Chapter 151,
FIGURE 113-7 The ab d ome n of the child in Fig ure 113-5 d e mo n-

strating two varie tie s of le sions in the same p atie nt. (Use d with p e rmis- FIGURE 113-9 Buttocks of the child in Fig ure 113-8. (Use d with
sion from Ann Pe tru, MD.) p e rmission from Storie sofg rand e ur.b log sp ot.com.)
PART 14
HAND FO O T MO UTH SYNDRO ME 651
DERMATO LO GY
Patients with central nervous system (CNS) manifestations may
require hospitalization.
Those with the new atypical (A6) form are more likely to require
hospitalization due to dehydration, severity of symptoms including
pain, and diagnostic uncertainty. 5,8
PREVENTIO N
Good hand-washing is critical to reduce the spread of disease, both

at home and at daycare facilities experiencing cases. Virus may be
shed in stool for at least several weeks.
FIGURE 113-10 Dorsal surface pap ular hand lesions of the child in PRO GNO SIS
Fig ure s 113-8 and 113-9. (Used with p ermission from Storiesofgrandeur.
b log sp ot.com.)
HFMD caused by coxsackie viruses is generally a mild self-limited
illness that resolves in around 7 to 10 days. HFMD may rarely
recur, persist, or cause serious complications.
Erythema Multiforme, Stevens-Johnson Syndrome, and Toxic
Epidermal Necrolysis). The recent atypical (A6) variety outbreak reported by the CDC
resulted in a high rate of hospitalization (about 1 in 5 cases), but of
Herpes simplex presents with painful recurrent ulcerations of the lips
the 63 cases reported to the CDC there were no deaths. Lesions
or genitals without simultaneous hand or foot lesions unless there is
tend to heal completely if not complicated. Beau’s lines (Chapter
a herpetic whitlow on the hand (see Chapter 114, Herpes Simplex).
160, Normal Nail Variants) and onychomadesis (loss of nail) may
Eczema herpeticum lesions may very much resemble those of the occur many weeks later, followed by complete healing. 4,7 Illness in
atypical (severe) form of HFMD, but careful exam usually reveals both the mild and the “new” atypical form of HFMD is usually fol-
the typical perioral/ intraoral lesions and concurrent hand and foot lowed by complete recovery without scarring. Uncommon CNS
distribution of HFMD. This new form of HFMD has also been mis- involvement has been the cause of most persistent morbidity and
diagnosed as varicella (see Chapter 108, Chickenpox), impetigo deaths associated with HFMD.
(see Chapter 99, Impetigo), poison ivy, and atypical Kawasaki dis-
ease. Some cases have not manifested intraoral lesions, or lesions
on hands or feet. 6,7 PATIENT EDUCATIO N
Educate parents of young children to watch for signs of dehydration

MANAGEMENT owing to decreased oral intake secondary to mouth pain.
To reduce viral spreading, do not rupture blisters.
NO NPHARMACO LO GIC
The patient may attend school once fever and symptoms subside, no
The treatment of HFMD is usually supportive. Usually the mouth new lesions have appeared, and all lesions have dried or scabbed over.6
lesions are not as painful as in herpes gingivostomatitis. If there is
a lot of mouth pain leading to poor oral intake, the following medi- The virus that causes hand, foot, and mouth disease may be present
cations may be considered. Topical oral anesthetics such as 2 percent in the patient’s stool for 1 month.
viscous lidocaine by prescription or 20 percent topical benzocaine Report any neurologic symptoms to health care providers immediately.
(Orabase) nonprescription may be used to treat painful oral ulcers. Good hand washing and contact precautions are critical to prevent-
Benzocaine may not be safe in children under 2 years of age due to ing spread to others.
the risk of methemoglobinemia. 10 SO R
A solution combining aluminum and magnesium hydroxide (liquid PATIENT RESO URCES
antacid) and 2 percent viscous lidocaine has been reported as helpful Centers for Disease Control and Prevention. CDC Feature: Hand,
when swished and spit out several times a day as needed for pain. Foot, and Mouth Disease—
This must be limited to patients old enough to reliably spit out the .
material and avoid anesthetizing critical swallowing surfaces. SO R Centers for Disease Control and Prevention. About Hand, Foot,
and Mouth Disease (HFMD)—
MEDICATIO NS .
Acetaminophen or NSAIDs/ cyclooxygenase (COX)-2 s may be eMedicine. Hand, Foot and Mouth Disease—www
used to manage fever, and analgesics may be used to treat arthral-
gias. SO R Aspirin should not be used in viral illnesses in children .
younger than 12 years of age to prevent Reye syndrome. SO R
PART 14
652 CHAPTER 113
DERMATO LO GY
PRO VIDER RESO URCES 3. Frydenberg A, Starr M. Hand, foot and mouth disease. Aust Fam
NHS Clinical Knowledge Summaries. Hand, Foot and Mouth Physician. 2003;32(8):594-595.
Disease— 4. Centers for Disease Control and Prevention (CDC). Notes from
. the eld: severe hand, foot, and mouth disease associated with
Frydenberg A, Starr M. Hand, foot and mouth disease. Aust Fam coxsackievirus A6—Alabama, Connecticut, California, and
Physician. 2003;328:594-595. Nevada, November 2011-February 2012. MMWR Morb Mortal
. Wkly Rep. 2012;61:213-3.
Centers for Disease Control and Prevention. Hand, Foot, and 5. World Health Organization Regional Of ce for the Western
Mouth Disease (HFMD)— Paci c Region. News Release: Severe hand, foot and mouth disease
. killed Cambodian children. http:// www.wpro.who.int/ mediacentre/
releases/ 2012/ 20120713/ en/ index.html, accessed December 8,
A Guide to Clinical Management and Public Health 2012.
Response for Hand, Foot and Mouth Disease (HFMD).
6. Inyo County Health and Human Services, Public Health
Division—Inyo County Health Brief http:// www.nih.org/ docs/
A Quick Reference Sheet for Coxsackievirus A6 Questions— ICPHB_hand_foot_7_18_12.pdf. 2012.
7. Flett K, Youngster I, Huang J, McAdam A, SandoraTJ, Rennick
. M, et al. Hand, foot, and mouth disease caused by coxsackievirus
A6 [letter]. Emerg Infect Dis [Internet]. 2012 Oct [date cited].
http:// dx.doi.org/ 10.3201/ eid1810.120813.
8. Chan KP, Goh KT, Chong CY, et al. Epidemic hand, foot and
REFERENCES mouth disease caused by human enterovirus 71, Singapore. Emerg
1. Chang LY, King CC, Hsu KH, et al. Risk factors of enterovirus 71 Infect Dis. 2003;9(1):78-85.
infection and associated hand, foot, and mouth disease/ herpangina 9. Chen SC, Chang HL, Yan TR, et al. An eight-year study of
in children during an epidemic in Taiwan. Pediatrics. 2002; epidemiologic features of enterovirus 71 infection in Taiwan.
109(6):e88. Am J Trop Med Hyg. 2007;77(1):188-191.
2. Chong CY, Chan KP, Shah VA, et al. Hand, foot and mouth disease 10. US Food and Drug Administration. Drug Safety Communication:
in Singapore: a comparison of fatal and non-fatal cases. Acta Paediatr. http:// www.fda.gov/ drugs/ drugsafety/ ucm250024.htm,
2003;92(10):1163-1169. accessed December 8, 2012.
PART 14
HERPES SIMPLEX 653
DERMATO LO GY
114 HERPES SIMPLEX

PATIENT STO RY
A 4-year-old girl is brought to her pediatrician’s of ce because of fever

and sores in her mouth for the past 2 days. The child is alert, playful
and fully oriented, and her doctor notes that she has crusting on her
outer lips (Figure 114-1A). The mother pulls back the child’s upper
lip to show how her daughter’s gums are in amed (Figure 114-1B).
There are small ulcers on the tip of the tongue (Figure 114-2A) and
when the lower lip is pulled down there are obvious ulcers on the
mucosa (Figure 114-2B). The doctor easily diagnoses primary her-
pes gingivostomatitis and determines that the child is drinking uids
but not eating. Her mucous membranes are moist and there are no
signs of dehydration. The doctor recommends giving uids that are
FIGURE 114-2 Primary he rp e s g ing ivostomatitis in a 4-ye ar-old g irl.

A. Small ulce rs on the tip of the tong ue . B. HSV ulce rs insid e the lowe r
lip . (Use d with p e rmissio n from Richard P. Usatine , MD.)
nonacidic and somewhat cold (anything that will be tolerated). Oral

acyclovir suspension is prescribed three times daily for 7 days. The
following day the child the child became afebrile and was tolerating
uids and food better. Within 1 week, she was fully better and able
to go back to preschool.
INTRO DUCTIO N
B
Herpes simplex virus (HSV) infection can involve the skin, mucosa,
FIGURE 114-1 Primary he rp e s g ing ivostomatitis in a 4-ye ar-old g irl.
A. Crusting on the lip s. B. Ging ivitis with sig ni cant e rythe ma and swe ll- eyes, and central nervous system. HSV establishes a latent state
ing of the g ums. (Use d with p e rmission from Richard P. Usatine , MD.) followed by viral reactivation and recurrent local disease. Perinatal
PART 14
654 CHAPTER 114
DERMATO LO GY
FIGURE 114-3 He rp e s simp le x on the p e nis with intact ve sicle s and

visib le crusts. (Use d with p e rmissio n from Jack Re zne ck, Sr., MD.) FIGURE 114-4 Vulvar he rp e s simp le x virus at the introitus showing
small p unche d out ulce rs. (Use d with p e rmission from the Ce nte rs for
Dise ase Control and Pre ve ntion and Susan Lind sle y.)
transmission of HSV can lead to signi cant fetal morbidity and The Centers for Disease Control and Prevention (CDC) reports
mortality. that at least 50 million persons in the US have genital HSV-2 infection
(Figures 114-3 and 114-4). 6 Over the past decade, the percentage
of Americans with genital herpes infection in the US has remained
EPIDEMIO LO GY stable. Most persons infected with HSV-2 have not been diagnosed
with genital herpes. 6
HSV affects more than 1/ 3 of the world’s population, with the 2 Genital HSV-2 infection is more common in women (approxi-
most common cutaneous manifestations being orolabial herpes mately 1 out of 5 women 14 to 49 years of age) than in men (approxi-
(Figures 114-1 and 114-2) and genital (Figures 114-3 and 114-4). 1 mately 1 out of 9 men 14 to 49 years of age). Transmission from an
HSV-1 infections are transmitted via saliva and are common in chil- infected male to his female partner is believed to be more likely than
dren, although primary herpes gingivostomatitis can be observed at from an infected female to her male partner. 6
any age. Children are most often infected by ve years of age with in- Cross-sectional data from the 2003 to 2004 US National Health
fection rates ranging from 20 to 40 percent depending upon the geo- and Nutrition Examination Survey (NHANES) shows 24 percent of
graphic location and socioeconomic status of the family. 2 Orolabial female adolescents (aged 14 to 19 years) had laboratory evidence of
herpes is the most prevalent form of herpes infection in children and infection with human papillomavirus (HPV, 18%), Chlamydia tracho-
often affects children younger than 5 years of age. The duration of the matis (4%), Trichomonas vaginalis (3%), herpes simplex virus type
untreated illness is 2 to 3 weeks, and oral shedding of virus may con- 2 (HSV-2, 2%), or Neisseria gonorrhoeae. Among girls who reported
tinue for as long as 23 days. 1 ever having had sex, 40 percent had laboratory evidence of one of the
Acute herpetic gingivostomatitis (Figures 114-1 and 114-2) is a four STDs, most commonly HPV (30%) and chlamydia (7%). 7
manifestation of primary HSV-1 infection that most often occurs in Herpetic whitlow is an intense painful infection of the hand involv-
children aged 6 months to 5 years. Adults may also develop acute gin- ing the terminal phalanx of one or more digits (Figures 114-5 and
givostomatitis, but it is less severe and is often associated with a pos- 114-6). In the US, the estimated annual incidence is 2.4 cases per
terior pharyngitis. Infected saliva from an adult or another child is the 100,000 persons. 8
mode of infection. The incubation period is 3 to 6 days. 3
HSV-2 infections generally affect the genitals but may occur in neo-
nates associated with maternal outbreak at delivery, with an incidence ETIO LO GY AND PATHO PHYSIO LO GY
of about 1 in 3000 births. 4 Genital HSV-2 infections most commonly
occur once sexual activity begins, often in adolescence. HSV-2 genital HSV belongs to the family Herpesviridae and is a double-stranded
infections in children can be an indication of sexual abuse. 5 DNA virus.
PART 14
HERPES SIMPLEX 655
DERMATO LO GY
Retrograde transport into sensory ganglia leads to lifelong latent

infection. 1 Reactivation of the virus may be triggered by immuno-
de ciency, trauma, fever, and UV light.
Genital HSV infection is usually transmitted through sexual con-
tact. When it occurs in a preadolescent, the possibility of abuse
must be considered.
Evidence indicates that 21.9 percent of all persons in the US, 12
years or older, have serologic evidence of HSV-2 infection, which
is more commonly associated with genital infections. 4
As many as 90 percent of those infected are unaware that they have her-
pes infection and may unknowingly shed virus and transmit infection.9
Primary genital herpes has an average incubation period of 4 days,
followed by a prodrome of itching, burning, or erythema.
With both types, systemic symptoms are common in primary
disease and include fever, headache, malaise, abdominal pain, and
FIGURE 114-5 He rp e tic whitlow le sion o n d istal ind e x ng e r. (Use d
with p e rmission from Richard P. Usatine , MD.) myalgia. 10 Recurrences are usually less severe and shorter in dura-
tion than the initial outbreak. 1,10
HSV exists as 2 separate types (types 1 and 2), which have af nities Herpetic whitlow occurs as a complication of oral or genital HSV
for different epithelia. 8 Seventy to ninety percent of HSV-2 infections infection and in medical personnel who have contact with oral
are genital, whereas 70 to 90 percent of those caused by HSV-1 are secretions (Figures 114-5 and 114-6).
oral–labial. Toddlers and preschool children are susceptible to herpetic whit-
HSV enters through abraded skin or intact mucous membranes. low if they have herpes labialis and engage in thumb-sucking or
Once infected, the epithelial cells die, forming vesicles and creating nger-sucking behavior (Figure 114-6).
multinucleated giant cells.
Like all HSV infections, herpetic whitlow usually has a primary
infection, which may be followed by subsequent recurrences. The
virus migrates to the peripheral ganglia and Schwann cells where it
lies dormant. Recurrences observed in 20 to 50 percent of cases
are usually milder and shorter in duration.
Herpes can remain dormant in nerves, including the trigeminal
nerve and recur subsequently (Figures 114-7 to 114-10).
Maternal–fetal transmission of HSV is associated with signi cant
morbidity and mortality. Manifestations of neonatal HSV include
FIGURE 114-6 He rp e s whitlow on the le ft third ng e r of a 6-month-

old child . The mothe r is d e monstrating the le sions on the ng e r, which
are g roup e d p ustule s with an e rythe matous b ase . The child and FIGURE 114-7 Re curre nt he rp e s simp le x virus on the che e k of a
mothe r had a history of re curre nt cold sore s on the lip and this se cond 14-ye ar-old b oy. He g e ts this ab out once a ye ar since ag e 8 months.
p rimary le sion was most p rob ab ly from se lf-innoculation while sucking This re curre nce starte d 5 d ays ag o. HSV1 re mains d ormant in the tri-
the nger. A Tzanck prep showed multinucleated giant cells. Viral culture g e minal g ang lion of V2 b e twe e n outb re aks. (Use d with p e rmission
showe d HSV1. (Imag e use d with p e rmission from Rob e rt Brod e ll, MD.) from Ross Lawle r, MD.)
PART 14
656 CHAPTER 114
DERMATO LO GY
FIGURE 114-8 Re curre nt he rp e s simp le x virus on the b uttocks of a FIGURE 11 4-1 0 O rolab ial he rp e s simp le x virus in a child showing
young woman. Note the ve sicle s and crusts in a unilate ral cluste r. (Use d d e roofe d b liste rs (ulce r). (Use d with p e rmissio n fro m Richard P.
with p e rmission from Richard P. Usatine , MD.) Usatine , MD.)
localized infection of the skin, eyes, and mouth, central nervous

system (CNS) disease, or disseminated multiple organ disease DIAGNO SIS
(Figure 114-11). The CDC and the American College of Obstetri-
cians and Gynecologists recommend that cesarean delivery should CLINICAL FEATURES
be offered as soon as possible to women who have active HSV The diagnosis of HSV infection may be made by clinical appear-
lesions or, in those with a history of genital herpes, symptoms of ance. Many patients have systemic symptoms, including fever,
vulvar pain, or burning at the time of delivery. 11 headache, malaise, and myalgias.
RISK FACTO RS
Multiple sexual partners.

Female gender.
Low socioeconomic status.
HIV infection.
FIGURE 114-11 Ne onatal he rp es simp lex virus-2 infe ction (culture

p roven) on the face of an infant most like ly acq uired d uring a vaginal
birth. The child was hosp italized for intravenous acyclovir and an ophthal-
FIGURE 114-9 Close -up of re curre nt he rp e s simp le x virus-1 showing mology consult was called due to the skin involvement around the eye.
ve sicle s on a re d b ase at the ve rmillion b ord e r in a young g irl. (Use d Even though the distrib ution app ears dermatomal this was not a herpes
with p e rmission from Richard P. Usatine , MD.) zoster infection. (Used with permission from Richard P. Usatine, MD.)
PART 14
HERPES SIMPLEX 657
DERMATO LO GY
Primary herpes gingivostomatitis typically takes the form of painful 80 to 90 percent sensitive and very speci c. This can provide a
vesicles and ulcerative erosions on the tongue, palate, gingiva, buc- rapid diagnosis.
cal mucosa, and lips (Figures 114-1 to 114-2). The Tzanck test has lower sensitivity rates than viral culture and
Acute herpetic gingivostomatitis clinical features include an abrupt should not be relied on for diagnosis. 6
onset of high fever (102 to 104°F) gingivitis with markedly swol- The CDC does not currently recommend routine type 2 HSV test-
len, erythematous, friable gums, anorexia, listlessness, vesicular ing in someone with no symptoms suggestive of herpes infection
lesions, and/ or ulcerated plaques of the oral mucosa, tongue, and (i.e., for the general population). 11
lips and later rupture and coalesce, tender regional lymphadenopa-
If the herpes was acquired by sexual contact, screening should be
thy, and perioral skin involvement due to contamination with
performed for other sexually transmitted diseases (STDs), such as
infected saliva. 5
syphilis and HIV.
Genital herpes presents with multiple transient, painful vesicles
Biopsy is usually unnecessary unless no infectious etiology is found
that appear on the penis (Figures 114-3), vulva (Figure 114-4),
for a genital lesion and a malignancy is suspected.
buttocks (Figure 114-8), perineum, vagina or cervix, and tender
inguinal lymphadenopathy. 10 The vesicles break down and become
ulcers that develop crusts while these are healing.
Oral and genital herpes infections can recur with variable frequency
depending upon many host factors. The duration is shorter and less Syphilis produces a painless or mildly painful, indurated, clean-
painful than in primary infections. The lesions are often single and based ulcer (chancre) at the site of exposure. It is best to investigate
the vesicles heal completely by 8 to 10 days. Recurrent labial her- for syphilis or coexisting syphilis in any patient presenting for
pes is commonly called a “cold sore” because an upper respiratory the rst time with a genital ulcer of unproven etiology (see
infection might trigger the outbreak (Figures 114-9 and 114-10). Chapter 181, Syphilis).
UV radiation in the form of sunlight may trigger outbreaks. Chancroid produces a painful deep, undermined, purulent ulcer
Another reason to use sun protection when outdoors triggers that may be associated with painful inguinal lymphadenitis (see
recurrence of orolabial HSV-1, an effect which is not fully sup- Chapter 75, Mucosal Ulcerative Disorders).
pressed by acyclovir.
Drug eruptions produce pruritic papules or blisters without associ-
ated viral symptoms (see Chapter 154, Cutaneous Drug Reactions).
LABO RATO RY STUDIES Behçet disease produces ulcerative disease around the mouth and
Infants exposed to HSV during birth should be followed carefully in genitals, possibly before onset of sexual activity (Figure 114-12;
consultation with a pediatric infectious disease specialist (Figures see Chapter 75, Mucosal Ulcerative Disorders).
114-11). Surveillance cultures of mucosal surfaces to detect HSV Acute paronychia which presents as a localized abscess in a nail fold
infection might be considered before the development of clinical and is the main differential diagnosis in the consideration of her-
signs of neonatal herpes. 6 petic whitlow (see Chapter 164, Paronychia).
The gold standard of diagnosis is viral isolation by tissue culture and Felon—A red, painful infection, usually bacterial, of the ngertip
polymerase chain reaction (PCR) testing. 6 pulp. It is important to distinguish whitlow from a felon (where the
~ The culture sensitivity rate is only 70 to 80 percent and depends
upon the stage at which the specimen is collected. The sensitivity

is highest at rst in the vesicular stage and declines with ulcer-
ation and crusting. The tissue culture assay can be positive within
48 hours but may take longer.
~ PCR is extremely sensitive (96%) and speci c (99%). PCR test-
ing is generally used for cerebrospinal uid (CSF) testing in sus-

pected HSV encephalitis or meningitis. 6
Older type-speci c HSV serologic assays that do not accurately dis-
tinguish HSV-1 from HSV-2 antibody are still on the market. Both
laboratory-based assays and point-of-care tests that provide results
for HSV-2 antibodies from capillary blood or serum with sensitivi-
ties of 80 to 98 percent are available. Because nearly all HSV-2
infections are sexually acquired, the presence of type-speci c
HSV-2 antibody implies anogenital infection. Type-speci c HSV
serologic assays might be useful in patients with recurrent symp-
toms and negative HSV cultures and an asymptomatic patient with
a partner with genital herpes. Screening for HSV-1 and HSV-2 in
the general population is not indicated. 6 FIGURE 114-12 A 17-ye ar-old g irl d iag nose d with Be hce t’s synd rome
with re curre nt ap hthous stomatitis in the mouth and re curre nt g e nital
Direct immuno uorescent staining of vesicular lesions (obtained by ulce rs p rior to the onse t of se xual activity. (Use d with p e rmission from
unroo ng a lesion and removing cells from the base of the lesion) is Richard P. Usatine , MD.)
PART 14
658 CHAPTER 114
DERMATO LO GY
pulp space usually is tensely swollen) as incision and drainage of a Effective episodic treatment of herpes requires initiation of therapy
felon is needed, but should be avoided in herpetic whitlow because during the prodrome period or within 1 day of lesion onset. Pro-
it may lead to an unnecessary secondary bacterial infection. viding the patient with a prescription for the medication with
instructions to initiate treatment immediately when symptoms
begin improves ef cacy. 6 SO R
MANAGEMENT HSV strains resistant to acyclovir have been detected in immuno-
compromised patients so that other antivirals (e.g., foscarnet) need
NO NPHARMACO LO GIC to be considered in these patients. SO R
Women with active primary or recurrent genital herpetic lesions at Topical medication for HSV infection is generally not effective and
the onset of labor should deliver by cesarean section to lower the not recommended. Topical penciclovir applied every 2 hours for
chance of neonatal HSV infection. 11 SO R 4 days, reduces clinical healing time by approximately 1 day. 1,6
All patients with a rst episode of genital herpes should receive
MEDICATIO NS antiviral therapy as even with mild clinical manifestations initially,
Acyclovir is a guanosine analog that acts as a DNA chain terminator they can develop severe or prolonged symptoms.
which, when incorporated, ends viral DNA replication. It is indicated Toxicity of these 3 antiviral drugs is rare, but in patients who are dehy-
for use in children for most herpes related indicationsValacyclovir is drated or who have poor renal function, the drug can crystallize in the
the l-valine ester prodrug of acyclovir that has enhanced absorption renal tubules, leading to a reversible creatinine elevation or, rarely, acute
after oral administration and high oral bioavailability. Famciclovir is tubular necrosis. Adverse effects, usually mild, include nausea, vomiting,
the oral form of penciclovir, a purine analog similar to acyclovir. They
rash, and headache. Lethargy, tremulousness, seizures, and delirium
must be administered early in the outbreak to be effective, but are have been reported rarely in studies of renally impaired patients.12
safe and extremely well-tolerated.10 SOR Only acyclovir is avail-
able as an oral formulation and indicated for young children. Oral herpes:
Treatment for neonatal herpes is intravenous acyclovir and is Oral acyclovir treatment for primary herpes gingivostomatitis in
shown in Table 114-1. children, started within the rst three days of onset, shortens the
All infants who have neonatal herpes should be promptly evaluated duration of all clinical manifestations and the period of infectivity. 13
and treated with systemic acyclovir 20 mg/ kg IV every 8 hours for SO R In this RCT, acyclovir suspension was given (15 mg/ kg) ve
21 days for disseminated and CNS disease or for 14 days for disease times a day for seven days, or placebo. Children receiving acyclovir
limited to the skin and mucous membranes. 6 SO R (age 1 to 6) had oral lesions for a shorter period than children
receiving placebo (median 4 versus 10 days) and earlier disappear-
Genital herpes:
ance of the following signs and symptoms: fever (1 versus 3 days);
Antiviral therapy is recommended for an initial genital herpes extraoral lesions (lesions around the mouth but outside the oral cav-
outbreak. Although systemic antiviral drugs can partially control ity) (0 versus 5.5 days); eating dif culties (4 versus 7 days); and
the signs and symptoms of herpes episodes, they do not eradicate drinking dif culties (3 versus 6 days). Viral shedding was signi cantly
latent virus. shorter in the group treated with acyclovir (1 versus 5 days).
Acyclovir, famciclovir, and valacyclovir are equally effective for
Dosing of oral acyclovir is based on age and weight:
episodic treatment of genital herpes, but famciclovir appears
somewhat less effective for suppression of viral shedding. 6 Only 3 months to 2 years old: 15 mg/ kg/ day IV or oral divided 3 to
acyclovir is indicated for use in children. SO R 5 times per day for 5 to 7 days.
TABLE 114-1 Tre atme nts for Ne onatal He rp e s
Drug Do se o r Do sag e Evid e nce Rat ing † Re fe re nce s

Skin, e ye s, and mo ut h invo lve me nt
Intrave nous acyclovir 60 mg /kg /d ay for 14 d ays A 3
Disse minat e d and ce nt ral ne rvo us syst e m
Intrave nous acyclovir 60 mg /kg /d ay for 21 d ays A 3
Asymp t o mat ic ne o nat e s b o rn t o mo t he rs who had p rimary g e nit al infe ct io ns
Intrave nous acyclovir 60 mg /kg /d ay e mp iric acyclovir the rap y p e nd ing C 3
culture re sults is re comme nd e d b y some e xp e rts
†
A, Consiste nt, g ood -q uality, p atie nt-orie nte d e vid e nce ; B, inconsiste nt or limite d -q uality, p atie nt-orie nte d e vid e nce ; C, conse nsus,
d ise ase -orie nte d e vid e nce , usual p ractice , e xp e rt op inion, or case se rie s.
Source : Hollie r LM, We nd e l GD. Third trime ste r antiviral p rop hylaxis for p re ve nting mate rnal g e nital he rp e s simp le x virus (HSV)
re curre nce s and ne onatal infe ction. Cochrane Datab ase Syst Re v. 2008 Jan 23;(1):CD004946. d oi: 10.1002/14651858.CD004946.p ub 2.
PART 14
HERPES SIMPLEX 659
DERMATO LO GY
FO LLO W-UP
The patient should return for follow-up if pain is uncontrolled or

superinfection is suspected. The patient should be periodically eval-
uated for the need for suppressive therapy based on the number of
recurrences per year.
Acute herpetic gingivostomatitis generally lasts 5 to 7 days, and the
symptoms subside in 2 weeks. Viral shedding from the saliva may
continue for 3 weeks or more. 5
PATIENT EDUCATIO N
Inform women with recurrent genital herpes simplex virus that the risk
of neonatal herpes is low. There is insuf cient evidence to determine if
maternal antiviral prophylaxis reduces the incidence of neonatal herpes.
FIGURE 114-13 Primary he rp e s g ing ivostomatitis in a tod d le r. He r lip s
are swolle n and she is d rooling b e cause it is p ainful to swallow. She is Antenatal antiviral prophylaxis reduces viral shedding and recurrences at
fe b rile and cle arly not fe e ling we ll at all. (Use d with p e rmission from delivery and reduces the need for cesarean delivery for genital herpes. 3
Richard P. Usatine , MD.) Measures to prevent genital HSV infection:
Abstain from sexual activity or limit number of sexual partners to
Over 2 years old: 400 mg orally divided q8h for 7 to 10 days (or 15 prevent exposure to the disease.
mg/ kg/ day). Use condoms to protect against transmission, but this is not fool-
The oral lesions in primary herpes gingivostomatitis can lead to proof as ulcers can occur on areas not covered by condoms.
poor oral intake especially in children (Figures 114-13). To pre- Prevent autoinoculation by patting dry affected areas, not rubbing
vent dehydration, the following medications may be considered. with towel.
Topical oral anesthetics such as 2 percent viscous lidocaine by pre-
Studies show that patients may shed virus when they are otherwise
scription or 20 percent topical benzocaine OTC may be used to
asymptomatic.
treat painful oral ulcers. SO R A solution combining aluminum
and magnesium hydroxide (liquid antacid) and 2 percent viscous A link between HSV genital ulcer disease and sexual transmission
lidocaine has been reported as helpful when swished and spit out of HIV has been established. Safer sex practices should be strongly
several times a day as needed for pain. SO R encouraged to prevent transmission of HSV to others and acquiring
HIV by the patient.
Docosanol cream (Abreva) is available without prescription for
recurrent oral herpes. One randomized controlled trial (RCT) of
743 patients with herpes labialis showed a faster healing time in PATIENT RESO URCES
patients treated with docosanol 10 percent cream compared with National Institute of Allergy and Infectious Diseases. Genital
placebo cream (4.1 versus 4.8 days), as well as reduced duration Herpes—www.niaid.nih.gov/ topics/ genitalherpes/
of pain symptoms (2.2 versus 2.7 days). 14 More than 90 percent of Pages/ default.aspx.
patients in both groups healed completely within 10 days. 14 Treat- Centers for Disease Control and Prevention. Genital Herpes–CDCFact
ment with docosanol cream, when applied 5 times per day and Sheet—www.cdc.gov/ std/ Herpes/ STDFact-Herpes.htm.
within 12 hours of episode onset, is safe and somewhat effective. 15
Skinsight. Herpetic Whitlow–Information for Adults—
www.skinsight.com/ adult/ herpeticWhitlow.htm.
PREVENTIO N
Barrier protection using latex condoms is recommended to mini- Medscape. Herpes Simplex—http:// emedicine.medscape
mize exposure to genital HSV infections (see the following section .com/ article/ 218580.
called “Patient Education”). In a large analysis using prospective Medscape. Dermatologic Manifestations of Herpes Simplex—
data, condoms did offer moderate protection against HSV-2 http:// emedicine.medscape.com/ article/ 1132351.
acquisition in men and women. 16 SO R
Usatine RP, Tinitigan R. Nongenital HSV. Am Fam Physician.
Suppressive therapy with antiviral drugs reduces the frequency of gen- 2010;829:1075-1082—www.aafp.org/ afp/ 2010/ 1101/
ital herpes recurrences by 70 to 80 percent in patients with frequent p1075.html.
recurrences.6 SOR Traditionally this is reserved for use in patients
Emmert DH. Treatment of common cutaneous HSV infections.
who have more than 4 to 6 outbreaks per year (see Table 114-1).
Am Fam Physician. 2000;616:1697-1704—www.aafp.org/
Short-term prophylactic therapy with acyclovir for orolabial HSV afp/ 20000315/ 1697.html.
may be used in patients who anticipate intense exposure to UV light.
PART 14
660 CHAPTER 114
DERMATO LO GY
REFERENCES 9. Mertz GJ. Epidemiology of genital herpes infections. Infect Dis

1. Whitley RJ, Kimberlin DW, Roizman B. Herpes simplex viruses. Clin North Am. 1993;7:825-839.
Clin Infect Dis. 1998;26:541-555. 10. Clark JL, Tatum NO, Noble SL. Management of genital herpes.
2. Chayavichitsilp P, Buckwalter JV, Krakowski AC, Friedlander SF. Am Fam Physician. 1995;51:175-182, 187-188.
Herpes simplex. Pediatr Rev. 2009;30(4):119-129. 11. Centers for Disease Control and Prevention (CDC). Seropreva-
3. Arduino PG, Porter SR. Oral and perioral herpes simplex virus lence of herpes simplex virus type 2 among persons aged 14–49
type 1 (HSV-1) infection: review of its management. Oral Dis. years—United States, 2005–2008. MMWR Morb Mortal Wkly Rep.
2006;12(3):254-270. 2010;59(15):456-459.
4. Hollier LM, Wendel GD. Third trimester antiviral prophylaxis 12. Emmert DH. Treatment of common cutaneous herpes simplex
for preventing maternal genital herpes simplex virus (HSV) virus infections. Am Fam Physician. 2000;61(6):1697-1706, 1708.
recurrences and neonatal infection. Cochrane Database Syst Rev. 13. Amir J, Harel L, Smetana Z, Varsano I. Treatment of herpes sim-
2008;23(1):CD004946. plex gingivostomatitis with aciclovir in children: a randomised
5. Fleming DT, McQuillan GM, Johnson RE, et al. Herpes simplex double blind placebo controlled study. BMJ. 1997;21;314(7097):
virus type 2 in the United States, 1976 to 1994. N Engl J Med. 1800-1803.
1997;337:1105-1111. 14. Sacks SL, Thisted RA, Jones TM, et al. Docosanol 10% Cream
6. Centers for Disease Control and Prevention. 2010 Guidelines for Study Group. Clinical ef cacy of topical docosanol 10% cream
Treatment of Sexually Transmitted Diseases. http:// www.cdc.gov/ for herpes simplex labialis: a multi-center, randomized, placebo-
std/ treatment/ 2010/ STD-Treatment-2010-RR5912.pdf, controlled trial. J Am Acad Dermatol. 2001;45(2):222-230.
accessed December 1, 2011. 15. Usatine RP, Tinitigan R. Nongenital herpes simplex virus. Am Fam
7. Forhan SE, Gottlieb SL, Sternberg MR, et al. Prevalence of sexu- Physician. 2010;82(9):1075-1082.
ally transmitted infections among female adolescents aged 14 to 16. Martin ET, Krantz E, Gottlieb SL, Magaret AS, Langenberg A,
19 in the United States. Pediatrics. 2009;124:1505. Stanberry L, Kamb M, Wald A. A pooled analysis of the effect of
8. Gill MJ, Arlette J, Buchan K. Herpes simplex virus infection of condoms in preventing HSV-2 acquisition. Arch Intern Med. 2009;
the hand. A pro le of 79 cases. Am J Med. 1988;84:89-93. 169(13):1233-1240.
PART 14
MO LLUSCUM CO NTAGIO SUM 661
DERMATO LO GY
115 MO LLUSCUM
CO NTAGIO SUM
Ste p he n Taylor, MD
Ke vin Carlisle , MD
PATIENT STO RY
An 8-year-old girl is brought to the of ce because of an outbreak of

bumps on her face for the past 3 months ( ). Occasion-
ally she scratches them, but she is otherwise asymptomatic. The
mother and child are unhappy with the appearance of the molluscum
contagiosum and chose to try topical imiquimod 5 percent cream.
Fortunately, her health insurance covered this expensive treatment.
A topical treatment was chosen to avoid the risk of hypopigmentation FIGURE 115-2 Cryothe rap y of molluscum on the face of an 11-ye ar-
old g irl. The ce ntral umb ilication is e asily se e n in the 2 p ap ule s that
that can occur in dark-skinned individuals with cryotherapy. we re just froze n. (Use d with p e rmission from Richard P. Usatine , MD.)
An 11-year-old girl was also seen with molluscum on her face.
The child and her mother decided to try cryotherapy as her treat-
Up to 5 percent of children in the US have clinical evidence of
ment. She very bravely tolerated the treatment with liquid nitrogen
molluscum contagiosum infection. 2 It is a common, nonsexually
in a Cryogun ( ). The molluscum disappeared without
transmitted condition in children (see to ).
scarring or hypopigmentation after 2 treatments.
The number of cases in US adults increased in the 1980s probably as a
result of the HIV/ AIDS epidemic. Since the introduction of highly
INTRO DUCTIO N active antiretroviral therapy (HAART), the number of molluscum
contagiosum cases in HIV/ AIDS patients has decreased substantially.3
Molluscum contagiosum is a viral skin infection that produces pearly However, the prevalence of molluscum contagiosum in patients
papules that often have a central umbilication. It is seen most com- who are HIV-positive may still be as high as 5 to 18 percent
monly in children, but can also be transmitted sexually among adults. ( ). 4,5
EPIDEMIO LO GY ETIO LO GY AND PATHO PHYSIO LO GY
Molluscum contagiosum infection has been reported worldwide. Molluscum contagiosum is a benign condition that is often trans-
An Australian seroepidemiology study found a seropositivity rate mitted through close contact in children and through sexual contact
of 23 percent. 1 in adolescents.
FIGURE 115-3 A g roup of molluscum contag iosum le sions on the

FIGURE 115-1 Molluscum contag iosum on the face of an 8-ye ar-old ab d ome n of a 4-ye ar-old b oy. (Use d with p e rmission from Richard P.
g irl. (Use d with p e rmission from Richard P. Usatine , MD.) Usatine , MD.)
PART 14
662 CHAPTER 115
DERMATO LO GY
FIGURE 115-4 Molluscum contag iosum und e r the e ye of a young FIGURE 115-6 Molluscum contag iosum in the ante cub ital fossa of
g irl with ce ntral umb ilication. (Use d with p e rmission from Richard P. a 6-ye ar-old g irl with atop ic d e rmatitis. (Use d with p e rmission from
Usatine , MD.) Richard P. Usatine , MD.)
It is a large DNA virus of the Poxviridae family of poxvirus. It is The disease also may be spread by participation in contact sports. 2
related to the orthopoxviruses (variola, vaccinia, smallpox, and It is also associated with immunode cient states such as in HIV
monkeypox viruses). infection ( ) and with immunosuppressive drug
Molluscum replicates in the cytoplasm of epithelial cells. It causes a treatment.
chronic localized skin infection consisting of dome-shaped pearly
papules on the skin. Like most of the viruses in the poxvirus family,
molluscum is spread by direct skin-to-skin contact. It can also spread DIAGNO SIS
by autoinoculation when scratching, touching, or treating lesions.
Any single lesion is usually present for approximately 2 months, but CLINICAL FEATURES
autoinoculation often causes continuous crops of lesions.
Firm, multiple, 2- to 5-mm dome-shaped papules with a character-
istic shiny surface and umbilicated center ( ). Not all
the papules have a central umbilication, so it helps to take a
RISK FACTO RS moment and look for a papule that has this characteristic morphol-
ogy. If all features point to molluscum and no single lesion has cen-
Common childhood disease. tral umbilication, do not rule out molluscum as the diagnosis.
Molluscum contagiosum may be more common in patients with
atopic dermatitis ( ). 2
FIGURE 115-5 Exte nsive molluscum contag iosum on the face of a FIGURE 115-7 Close -up of a molluscum le sion on the b ack of a child
young g irl who has p e rinatally-acq uire d HIV infe ction. (Use d with showing a d ome -shap e d p e arly p ap ule with a characte ristic umb ili-
p e rmission from Richard P. Usatine , MD.) cate d ce nte r. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
excoriations are greater than seen with molluscum. Scabies lesions

also usually appear in the nger webs and ventral wrist fold (see
Chapter 128, Scabies).
Dermato bromas—Firm to hard nodules ranging in color from esh
to black that typically dimple downward when compressed laterally.
Usually not seen in crops as in molluscum. These nodules are
deeper in the dermis and do not appear stuck on like molluscum.
Genital warts may be at and grossly resemble molluscum but they
lack the characteristic shiny surface and central umbilication (see
Chapter 118, Genital Warts).
MANAGEMENT
NO NPHARMACO LO GIC
Treatment of nongenital lesions is usually not medically necessary as
FIGURE 115-8 Molluscum contag iosum on and around the p e nis of a the infection is usually self-limited and spontaneously resolves after a
young b oy. The re was no e vid e nce for se xual ab use . (Use d with p e rmis-
few months. Treatment may be performed in an attempt to decrease
autoinoculation. Patients and parents of children often want treat-
ment for cosmetic reasons and when watchful waiting fails.
The lesions range in color from pearly white to esh-colored, to A 2009 Cochrane Database systematic review investigated the ef -
pink or yellow. cacy of treatments for nongenital molluscum contagiosum in
Pruritus may be present or absent. healthy individuals and found insuf cient evidence to conclude that
any treatment was de nitively effective. 6 SO R
TYPICAL DISTRIBUTIO N In the HIV-infected patient, molluscum may resolve after control
The lesions may appear anywhere on the body except the palms of HIV disease with HAART. 3 SO R
and soles. The number of lesions may be greater in an HIV-infected Immunocompromised patients should have a full body skin exami-
individual. In children, the lesions are often on the trunk or face, nation to ensure all lesions are identi ed. Treatment is still optional
but occasionally are found around the genitalia, inguinal area, but- but should proceed in patients whose parents desire intervention.
tocks, or inner thighs.
If a child is found to have molluscum contagiosum in the genital MEDICATIO NS
area, a history and physical exam should be directed at looking for Podophyllotoxin 0.5 percent (Condylox) is an antimitotic agent
other clues that might indicate sexual abuse (see Chapter 8, Child that is indicated for the treatment of genital warts. The ef cacy of
Sexual Abuse). Not all cases of molluscum in this area will be sec- podophyllotoxin was established in a randomized trial of patients
ondary to sexual abuse ( ). 10 to 26 years of age who had lesions located on the thighs or geni-
talia. SO R Local erythema, burning, pruritus, in ammation, and
LABO RATO RY TESTING erosions can occur with the use of this agent. The safety and ef -
Laboratory testing is not typically indicated. cacy of this drug has not been established in young children. 7
Sexually active adolescents with genital lesions should be evaluated Topical imiquimod 5 percent (Aldara) cream has been shown (not
for other sexually transmitted diseases, including for HIV infection. FDA approved) to be better than vehicle alone to treat mollus-
cum. 8,9 SO R It can be well tolerated, although application site
BIO PSY irritation can be uncomfortable and lead to discontinuation of therapy.
It has been shown not to have systemic or toxic effects in children. 9
If con rmation is needed, smears of the caseous material expressed In one study, 23 children ranging in age from 1 to 9 years with
from the lesions can be examined directly under the microscope molluscum contagiosum infection were randomized to either
looking for molluscum bodies (enlarged keratinocytes that are imiquimod cream 5 percent (12 patients) or vehicle (11 patients).
engorged with viral inclusion bodies). Hematoxylin and eosin
(H&E) staining from a shave biopsy usually reveals keratinocytes Parents applied the study drug to the patient’s lesions 3 times a
that contain eosinophilic cytoplasmic inclusion bodies. 5 week for 12 weeks. Complete clearance at week 12 was noted in
33.3 percent (4/ 12) of imiquimod patients and in 9.1 percent
(1/ 11) of vehicle patients. 10
DIFFERENTIAL DIAGNO SIS Tretinoin cream 0.1 percent or gel 0.025 percent applied daily are
commonly used but not FDA-approved for this indication. 11 SOR
Scabies is caused by Sarcoptes scabiei mite and can be transmitted Cantharidin was studied in 300 children for molluscum where par-
through close or sexual contact. Early lesions are esh-colored to ents reported 90 percent of children experienced lesion clearing
red papules that produce signi cant itching. The itching and and 8 percent experience lesion improvement ( ).
PART 14
664 CHAPTER 115
DERMATO LO GY
PRO GNO SIS
In immunocompetent patients, lesions usually spontaneously

resolve within several months. In a minority of cases, disease per-
sists for a few years. 18
FO LLO W-UP
Have patients watch for complications that may include irritation,

in ammation, and secondary infections. Lesions on eyelids may be
associated with follicular or papillary conjunctivitis, so eye irrita-
tion should prompt a visit to an eye care specialist.
PATIENT EDUCATIO N
FIGURE 115-9 Bliste rs that forme d the ne xt d ay afte r tre ating mollus-
cum contag iosum with cantharid in. The b liste rs are not always so larg e Instruct patients to avoid scratching to prevent autoinoculation.
b ut are sup p ose d to form as the cantharid in is d e rive d from the b liste r
b e e tle and the se b liste rs he lp to e rad icate the molluscum. (Use d with
p e rmission from Richard P. Usatine , MD.) PATIENT RESO URCES
Centers for Disease Control and Prevention. Molluscum
(Molluscum Contagiosum)—www.cdc.gov/ ncidod/ dvrd/
Furthermore, 95 percent of parents stated they would use canthari- molluscum.
din therapy again. 12 Local erythema, burning, pruritus, and in am- Pubmed Health. Molluscum Contagiosum—www.ncbi.nlm
mation were reported side effects. .
Trichloroacetic acid13 are topical chemicals that can be applied by American Academy of Dermatology. Molluscum Contagiosum—
the physician in the of ce. SO R
.
SURGICAL eMedicine. Molluscum Contagiosum—www
Curettage and cryotherapy are physical methods used to eradicate .emedicinehealth.com/ molluscum_contagiosum/
molluscum. 14,15 SO R However, many children will fear treat- article_em.htm.
ment with a curette or with any form of cryotherapy particularly if MedlinePlus. Molluscum Contagiosum—www.nlm.nih.gov/
multiple lesions are present. .
CO MPLEMENTARY/ ALTERNATIVE THERAPY PRO VIDER RESO URCES

ZymaDermis a nonprescription, topical, homeopathic agent that is eMedicine. Molluscum Contagiosum—http://
marketed for the treatment of molluscum contagiosum, but no .
published studies have evaluated its ef cacy or safety. eMedicine. Molluscum Contagiosum in ED—
Potassium hydroxide has been used for molluscum but has not http:/ .
proved to be statistically signi cant when compared to placebo. 16 Centers for Disease Control and Prevention. Clinical
Pulsed dye lasers have shown to be safe and effective in case reports Information: Molluscum Contagiosum—www.cdc.gov/
and small uncontrolled studies. One prospective study of 19 chil- ncidod/ dvrd/ molluscum/ clinical_overview.htm.
dren between 2 and 13 concluded that all patients tolerated the
585 nm laser well and 84.3 percent had complete lesion resolution
with one treatment. 17 REFERENCES
1. Konya J, Thompson CH. Molluscum contagiosum virus: antibody
responses in persons with clinical lesions and seroepidemiology
PREVENTIO N in a representative Australian population. J Infect Dis. 1999;
179(3):701-704.
Molluscum contagiosum is a common childhood disease. 2. Dohil MA, Lin P, Lee J, et al. The epidemiology of molluscum
Limiting sexual exposure or number of sexual contact may help contagiosum in children. J Am Acad Dermatol. 2006;54(1):47-54.
prevent exposure. 3. Calista D, Boschini A, Landi G. Resolution of disseminated mollus-
Genital lesions should be treated to prevent spread by sexual cum contagiosum with highly active anti-retroviral therapy
contact. (HAART) in patients with AIDS. Eur J Dermatol. 1999;9(3):211-213.
PART 14
DERMATO LO GY
4. Schwartz JJ, Myskowski PL. Molluscum contagiosum in patients 11. Papa CM, Berger RS. Venereal herpes-like molluscum contagio-
with human immunode ciency virus infection. J Am Acad Derma- sum: treatment with tretinoin. Cutis. 1976;18(4):537-540.
tol. 1992;27(4):583-588. 12. Silverberg NB, Sidbury R, Mancini AJ. Childhood molluscum
5. Cotell SL, Roholt NS. Images in clinical medicine. Molluscum contagiosum: experience with cantharidin therapy in 300
contagiosum in a patient with the acquired immunode ciency patients. J Am Acad Dermatol. 2000;43(3):503-507.
syndrome. N Engl J Med. 1998;338(13):888. 13. Yoshinaga IG, Conrado LA, Schainberg SC, Grinblat M. Recalci-
6. van der Wouden JC, van der Sande R, van Suijlekom-Smit LW, trant molluscum contagiosum in a patient with AIDS: combined
et al. Interventions for cutaneous molluscum contagiosum. treatment with CO(2) laser, trichloroacetic acid, and pulsed dye
Cochrane Database Syst Rev. 2009;7(4):CD004767. laser. Lasers Surg Med. 2000;27(4):291-294.
7. Syed TA, Lundin S, Ahmad M. Topical 0.3% and 0.5% podophyl- 14. Hanna D, Hatami A, Powell J, et al. A prospective randomized
lotoxin cream for self-treatment of molluscum contagiosum in trial comparing the ef cacy and adverse effects of four recognized
males. A placebo-controlled, double-blind study. Dermatology. treatments of molluscum contagiosum in children. Pediatr Dermatol.
1994;189(1):65-68. 2006;23(6):574-579.
8. Hengge UR, Esser S, Schultewolter T, et al. Self-administered 15. Wetmore SJ. Cryosurgery for common skin lesions. Treatment in
topical 5% imiquimod for the treatment of common warts family physicians’ of ces. Can Fam Physician. 1999;45:964-974.
and molluscum contagiosum. Br J Dermatol. 2000;143(5): 16. Romiti R, Ribeiro AP, Romiti N. Evaluation of the effectiveness of
1026-1031. 5% potassium hydroxide for the treatment of molluscum conta-
9. Barba AR, Kapoor S, Berman B. An open label safety study of top- giosum. Pediatr Dermatol. 2000;17:495.17.
ical imiquimod 5% cream in the treatment of Molluscum 17. Binder B, Weger W, Komericki P, Kopera D. Treatment of mollus-
contagiosum in children. Dermatol Online J. 2001;7(1):20. cum contagiosum with a pulsed dye laser: Pilot study with 19
10. Theos AU, Cummins R, Silverberg NB, Paller AS. Effectiveness children. J Dtsch Dermatol Ges. 2008;6:121.
of imiquimod cream 5% for treating childhood molluscum 18. Lee R, Schwartz RA. Pediatric molluscum contagiosum: re ections
contagiosum in a double-blind, randomized pilot trial. Cutis. on the last challenging poxvirus infection, part 1. Cutis. 2010;
2004;74(2):134-138, 141-142. 86(5):230-236.
CO MMO N WARTS
Anthony Tod d Flowe rs, MD
An 11-year-old girl presents with warts on her ngers that have

not responded to nonprescription wart medications ( ).
It causes her and her mother some social embarrassment and they
would like to be rid of them. Her mother is also worried that it
is affecting her daughter’s nails. The girl was able to tolerate the
discomfort of liquid nitrogen treatment and wanted all her warts
treated. The mother was instructed to purchase 40 percent salicylic
acid to continue treatment of any residual warts at home.
Human papillomaviruses (HPVs) are DNA viruses that infect skin and
Nongenital cutaneous warts are widespread worldwide and are
mucous membranes. Infection is usually con ned to the epidermis
more common in children, with a peak incidence in the teenage
and does not result in disseminated systemic infection. The most
years and a sharp decline thereafter. 1 Warts are the third most
common clinical manifestation of these viruses is warts (verrucae).
common reason for a pediatric general dermatology clinic visit
There are more than 100 distinct HPV subtypes based on DNA test-
accounting for about 16 percent of such visits. 2
ing. Some tend to infect speci c body sites or types of epithelium.
Some HPV types have a potential to cause malignant change but They are most commonly caused by HPV types 1–5, 7, 27, and 29.1
transformation is rare on keratinized skin. Common warts account for approximately 70 percent of nongeni-
tal cutaneous warts. 3
Common warts occur most commonly in children and young adults
( and ). 4
Verrucae, verruca vulgaris, common warts.
Infection with HPV occurs by skin-to-skin contact. It starts with a

break in the integrity of the epithelium caused by maceration or
trauma that allows the virus to infect the basal layers.
Warts may infect the skin on opposing digits causing “kissing warts”
( ).
Individuals with subclinical infection may serve as a reservoir for
HPVs.
An incubation period following inoculation lasts for approximately
2 to 6 months.
Young age.
Disruption to the normal epithelial barrier.
More common among meat handlers.
Atopic dermatitis.
Nail biters more commonly have multiple periungual warts.
CO MMO N WARTS
Common warts are well-demarcated, rough, hard papules with

irregular papillary surface. They are usually asymptomatic unless
located on a pressure point.
Warts may form cylindrical of liform projections (
and ).
Conditions that decrease cell-mediated immunity such as HIV Common anatomic locations include the dorsum of the hand,
( ) and immunosuppressant drugs. between the ngers, exor surfaces, and adjacent to the nails
(periungual; , , and ).
HPV testing is not useful for this condition. 5 In a 2011 study,

response to cryotherapy did not correlate HPV type. 6
The diagnosis of warts is based upon clinical appearance. Warts will HIV testing may be useful if the warts are severe and there are risk
obscure normal skin markings ( ). factors present ( ).
Therapies for common warts do not speci cally treat the HPV
virus. They work by destruction of virus-containing skin while pre-
serving uninvolved tissue. This usually exposes the blood and its
immune cells to the virus, which may promote an immune
response against the virus.
The least-painful methods should be used rst in children.
A Cochrane review found that there is a considerable lack of evi-
dence on which to base the rational use of the local treatments for
common warts. 7 The trials are highly variable in method and quality.
There is evidence that simple topical treatments containing salicylic
acid have a therapeutic effect. 7 There is less evidence for
the ef cacy of cryotherapy and no convincing evidence that it is any
more effective than simple topical treatments. A 2011 meta-analy-
sis of randomized trials for treatments for warts found that salicylic
acid was superior to placebo (risk ratio for cure 1.60,
95 percent CI 1.15-2.24) but data were insuf cient to draw con-
clusions on the ef cacy of other therapies studied. 11
Seventeen percent salicylic acid is a useful rst-line agent, espe-
cially for thick or multiple warts. 7 It is safe in children.
Paring the surface with a surgical blade may expose punctate hemor- Combined results from ve randomized controlled trials (RCTs)
rhagic capillaries, or black dots, which are thrombosed capillaries. If showed a 73 percent cure rate with 6 to 12 weeks of salicylic acid
the diagnosis is in doubt, a shave biopsy is indicated to con rm the treatment, compared with a 48 percent cure rate with placebo
diagnosis. (number needed to treat [NNT] = 4). 7 A number of preparations
are available without a prescription. Topical 17 percent salicylic
acid is applied overnight and is now the most commonly used form
for this type of wart. Soak the wart area with warm water for 5
minutes, and then gently le down any thick skin with a pumice
Molluscum contagiosum can appear similar to the common wart stone or emery board. The salicylic acid product should be applied
when the central umbilication is not easily visible. However, mol- to the wart. Repeat the rst 2 steps daily with liquid or gel prepara-
luscum papules are usually more rounded and appear to be more tions, or every other day with the patch. Tape may be used to
stuck-on to the top of the skin (see Chapter 115, Molluscum cover the wart after application of salicylic acid liquid. Repeat
Contagiosum). treatment until the wart has cleared or for up to 12 weeks. Discon-
Acrochordon (skin tags) are pedunculated esh-colored papules tinue the treatment if severe redness or pain occurs in the treated
that are more common in obese persons. They lack the surface area. Do not use salicylic acid on the face because of an increased
roughness of common warts. Filiform warts also may be peduncu- risk of hypopigmentation. 1
lated, but typically have a characteristic liform appearance. Forty percent salicylic acid plasters (Mediplast) are available over
the counter for larger and thicker warts. The plasters are cut to t
and then applied a few millimeters beyond the wart for 48 hours.
Then the patch is removed, the wart pared down with a nail le,
pumice stone, or scalpel, and the process repeated as needed.
Imiquimod 5 percent is an expensive topical immunomodulator that
Because spontaneous regression occurs in 2/ 3 of warts within is indicated for treatment of anogenital warts but is also used on
2 years, observation without treatment is always an option. In nongenital warts. 12–14 It is nonscarring and painless,
17 trials, the average reported cure rate was 30 percent within although local irritation is common. Debriding heavily keratinized
10 weeks. 7 Observational studies show that 1/ 2 of cutaneous warts warts may enhance penetration of the medication. The cream is
resolve spontaneously within 1 year, and about 2/ 3 within applied in a thin layer to the lesions three times a week (every other
2 years. 8 night) and covered with a adhesive bandage or tape. The medication
Treatment does not decrease transmissibility of the virus. 9 is removed with soap and water in the morning. It can also be used
Distraction may help with pediatric acceptance and tolerance of as adjunctive therapy. A lower concentration of imiquimod (3.75%
treatment procedures. A 2012 study of patients aged 2 to 6 years cream) is also available, but data for common warts is lacking.
who underwent cryotherapy for cutaneous viral warts found that Intralesional injections with Candida antigen induces a localized,
the use of a portable video player signi cantly reduced preproce- cell-mediated and HPV-speci c response that may target the
dural anxiety levels in patients undergoing cryotherapy for cutane- injected wart as well as more distant warts ( ). This
ous viral warts. 10 method has moderate effectiveness (60% cure rates) for treatment
Tools used for paring down warts, such as nail les and pumice
stones, should not be used on normal skin or by other people.
Hair-bearing areas with warts should be shaved with depilatories,
electric razors, or not at all to help limit spread of warts.
Sixty to 70 percent of cutaneous warts resolve in 3 to 24 months

without treatment. 18,19
New warts may appear while others are regressing. This is not a
treatment failure but part of the natural disease process with HPV.
effects of cryotherapy include pain, blistering, and hypo- or Schedule patients for return visits after treatment to limit loss of
hyperpigmentation. Cryotherapy must be used cautiously where follow-up and to assess therapy.
nerves are located super cially (such as on the ngers) to prevent Follow-up visits can be left to the patient’s discretion when self-
pain and neuropathy. Overfreezing in the periungual region can applied therapy is being used.
result in permanent nail dystrophy.
Simple excision may be used for small or liform warts (
and ). The area is injected using lidocaine with epi-
nephrine and the wart is excised with sharp scissors or a scalpel
blade. Therapy often takes weeks to months, so patience and perseverance
Pulsed-dye laser can be considered for treatment of recalcitrant are essential for successful therapy.
warts, although the effectiveness is unproven. 1
Although preliminary studies were promising, duct tape is of .

uncertain ef cacy for wart treatment. 1 A randomized controlled
trial in adults showed it to be no better than moleskin and both .
groups only had a 21 to 22 percent success rate. 17
eMedicine Health—
.
BUPA. Warts and verrucas patient information—
.
MayoClinic.com. Common warts—
.
eMedicine. Nongenital Warts—

.
For information on treating warts including how to dilute
Candida antigen: Usatine R, Pfenninger J, Stulberg D, Small R.
Dermatologic and Cosmetic Procedures in Of ce Practice. Philadelphia,
PA: Elsevier; 2012 or may be purchased at purchased as an
electronic application at .
CO MMO N WARTS
Cutaneous warts: An evidence-based approach to therapy. 9. Rivera A, Tyring SK. Therapy of cutaneous human papillomavirus
Am Fam Physician. 2005;72:647-652. Available online at infections. Dermatol Ther. 2004;17(6):441-448.
. 10. Tey HL, Tan ES, Tan FG, Tan KL, Lim IS, Tan AS. Reducing anxiety
Medline Plus— levels in preschool children undergoing cryotherapy for cutane-
. ous viral warts: use of a portable video player. Arch Dermatol.
2012;148(9):1001-1004.
Cochrane review. Topical Treatments for Cutaneous Warts—
. 11. Kwok CS, Holland R, Gibbs S. Ef cacy of topical treatments for
cutaneous warts: a meta-analysis and pooled analysis of random-
ized controlled trials. Br J Dermatol. 2011;165:233.
12. Micali G, Dall’Oglio F, Nasca MR. An open label evaluation of the
1. Mulhem E, Pinelis S. Treatment of nongenital cutaneous warts. ef cacy of imiquimod 5% cream in the treatment of recalcitrant
Am Fam Physician. 2011;84(3):288-293. subungual and periungual cutaneous warts. J Dermatolog Treat.
2003;14:233-236.
2. Henderson MD, Abboud J, Cogan CM, Poisson LM, Eide MJ,
Shwayder TA, Lim HW. Skin-of-color epidemiology: A report 13. Hengge UR, Esser S, Schultewolter T, et al. Self-administered
of the most common skin conditions by race. Pediatr Dermatol. topical 5% imiquimod for the treatment of common warts and
2012;29(5):584-589. molluscum contagiosum. Br J Dermatol. 2000;143:1026-1031.
3. Micali G, Dall’Oglio F, Nasca MR, et al. Management of cutaneous 14. Grussendorf-Conen EI, Jacobs S. Ef cacy of imiquimod 5%
warts: an evidence-based approach. Am J Clin Dermatol. 2004; cream in the treatment of recalcitrant warts in children. Pediatr
5(5):311-317. Dermatol. 2002;19:263-266.
4. Kilkenny M, Marks R. The descriptive epidemiology of warts in 15. Yilmaz E, Alpsoy E, Basaran E. Cimetidine therapy for warts: a
the community. Australas J Dermatol. 1996;37:80-86. placebo-controlled, double-blind study. J Am Acad Dermatol.
1996;34(6):1005-1007.
5. Sterling JC, Hand eld-Jones S, Hudson PM. British Association of
Dermatologists. Guidelines for the management of cutaneous 16. Tabrizi SN, Garland SM. Is cryotherapy treating or infecting?
warts. Br J Dermatol. 2001;144(1):4-11. Med J Aust. 1996;164(5):263.
6. Tomson N, Sterling J, Ahmed I, Hague J, Berth-Jones J. Human 17. Wenner R, Askari SK, Cham PM, et al. Duct tape for the treat-
papillomavirus typing of warts and response to cryotherapy. J Eur ment of common warts in adults: a double-blind randomized
Acad Dermatol Venereol. 2011;25(9):1108-1111. controlled trial. Arch Dermatol. 2007;143(3):309-313.
7. Gibbs S, Harvey I, Sterling JC, Stark R. Local treatments for 18. Allen AL, Siegfried EC. What’s new in human papillomavirus
cutaneous warts. Cochrane Database Syst Rev. 2001;(2):CD001781. infection. Curr Opin Pediatr. 2000;12:365-369.
8. Massing AM, Epstein WL. Natural history of warts. A two-year 19. Sterling JC, Hand eld-Jones S, Hudson PM. Guidelines for the
study. Arch Dermatol. 1963;87:306-310. management of cutaneous warts. Br J Dermatol. 2001;144:4-11.
PART 14
672 CHAPTER 117
DERMATO LO GY
117 FLAT WARTS

PATIENT STO RY
A 16-year-old girl presents with multiple at lesions on her forehead

( ). It started with just a few lesions but has spread over
the past 3 months. She is diagnosed with at warts and topical imiqui-
mod is prescribed as the initial treatment.
INTRO DUCTIO N
Flat warts are characterized as at or slightly elevated esh-colored FIGURE 117-2 Flat warts just ab ove the kne e of a young woman.
papules. They may be smooth or slightly hyperkeratotic. They range Notice the line ar d istrib ution p ro b ab ly re sulting from sp re ad b y shav-
ing (Koe b ne r p he nome non). (Use d with p e rmission from Richard P.
in size from 1 to 5 mm or more, and numbers range from a few to Usatine , MD.)
hundreds of lesions, which may become grouped or con uent. They
occur most commonly on the face, hands, and shins. They may
appear in a linear distribution as a result of scratching, shaving, or ETIO LO GY AND PATHO PHYSIO LO GY
trauma (Koebner phenomenon) ( and ).
Like all warts, at warts are caused by HPV. 2
SYNO NYMS Flat warts may spread in a linear pattern secondary to spread by
scratching or trauma, such as shaving ( and ).
Plane warts, verruca plana, verruca plana juvenilis, plane warts. Flat warts present a special treatment problem because they persist
for a long time, they are generally located in cosmetically impor-
tant areas, and they are resistant to therapy.
EPIDEMIO LO GY
Flat warts (verruca plana) are most commonly found in children RISK FACTO RS
and young adults ( to ).
Flat warts are the least common variety of wart, but are generally Shaving next to infected areas ( and ).
numerous on an individual. 1
HIV infection or other types of immunosuppression.
Flat warts are usually caused by human papillomavirus (HPV) types
3, 10, 28, and 29. 2
FIGURE 11 7-3 Flat warts o n the hand o f a child . No te the line ar d is-
trib utio n, which is p ro b ab ly the re sult of scratching o r minor trauma
FIGURE 117-1 Flat warts on a p atie nt’s fore he ad . (Use d with p e rmis- (Ko e b ne r p he no me no n). (Use d with p e rmissio n from Richard P.
sion from Richard P. Usatine , MD.) Usatine , MD.)
PART 14
FLAT WARTS 673
DERMATO LO GY
FIGURE 117-4 Close -up of a at wart. Note typ ical small, at-top p e d FIGURE 117-6 Flat warts on the le g of a te e nag e r. (Use d with p e rmis-
p ap ule . (Use d with p e rmission from Richard P. Usatine , MD.) sio n from Richard P. Usatine , MD.)
BIO PSY
DIAGNO SIS
Although usually not necessary, a shave biopsy can con rm the
diagnosis if the diagnose is in question.
CLINICAL FEATURES
Multiple small, at-topped papules that may be pink, light
brown, or light yellow colored. They may be polygonal in shape DIFFERENTIAL DIAGNO SIS
( ).
Lichen planus produces at-topped papules that may be confused
TYPICAL DISTRIBUTIO N with at warts. Look for characteristic signs of lichen planus such
Flat warts typically appear on the forehead ( ), around as the symmetric distribution, purplish coloration, and oral lacy
the mouth ( ), the backs of the hands ( ), lesions. (Wickham striae are white, ne, reticular scale seen on the
and shaved areas, such as the lower face and neck in men ( lesions.) The distribution of lichen planus is different, with the most
) and the lower legs in women ( and ). common sites being the ankles, wrists, and back (see Chapter 138,
Lichen Planus). Lichen planus rarely occurs in children.
LABO RATO RY TESTING Seborrheic keratoses are often more darkly pigmented and have a
HPV testing is not useful for this condition. 3 stuck-on appearance; “horn cysts” may be visible on close examina-
tion. These are also rare in children.
MANAGEMENT
NO NPHARMACO LO GIC
Regression of these lesions may occur, which usually is heralded by
in ammation.
There are no current therapies for HPV that are virus speci c.
Distraction may help with pediatric acceptance and tolerance of
treatment procedures. A 2012 study of patients aged 2 to 6 years
who underwent cryotherapy for cutaneous viral warts found that the
use of a portable video player signi cantly reduced preprocedural
anxiety levels i undergoing cryotherapy for cutaneous viral warts. 4
MEDICATIO NS
Topical salicylic acid treatments by topical liquid or patch are the
FIGURE 117-5 Flat warts on the up p e r lip and nose of a young g irl. most effective treatment for all types of warts with a success rate
(Use d with p e rmission from Richard P. Usatine , MD.) average of 73 percent from ve pooled placebo-controlled trials. 5
PART 14
674 CHAPTER 117
DERMATO LO GY
Number needed to treat (NNT) = 4. SO R Salicylic acid may be to underfreeze than overfreeze since overfreezing may lead to per-
more acceptable on the legs than the face.2 Often, 17 percent sali- manent scarring or hypopigmentation. Best results of cryotherapy
cylic acid topicals are applied overnight daily until the warts resolve. can be achieved when the patient is treated every 2 or 3 weeks.
Fluorouracil (Efudex 5% cream, Fluoroplex 1%) may be used to There is no therapeutic bene t beyond 3 months. 2 SO R Because
treat at warts in adults only. 6,7 SO R It is not indicated for use HPV can survive in liquid nitrogen, cotton swabs and residual liq-
in children. uid nitrogen should be properly discarded to avoid spreading the
virus to other patients or contaminating the liquid nitrogen reser-
Imiquimod 5 percent cream is an expensive topical immunomodu-
voir. 13 After cryotherapy, the skin shows erythema and may prog-
lator that has shown some ef cacy in treating at warts. 8,9 It is non-
ress to hemorrhagic blistering. Healing occurs in approximately a
scarring and painless to apply. There are rare reports of systemic
week and hypopigmentation may occur. Common adverse effects
side effects. The cream is applied to the lesions 3 times a week
of cryotherapy include pain, blistering, and hypo- or hyperpigmen-
(every other day). The cream may be applied to the affected area,
tation.
not strictly to the lesion itself. 10 It can be used on all external HPV-
infected sites, but not on occluded mucous membranes. Therapy Pulsed-dye laser can be considered for treatment of recalcitrant
can be temporarily halted if symptoms become problematic. warts, although the effectiveness is unproven. 2 SO R
Imiquimod has the advantage of having almost no risk of scarring. 8,9
SO R A lower concentration of imiquimod (3.75% cream) is also
available, but data for its use with at or common warts is lacking. PREVENTIO N
It is not indicated for use in children although there are data for its
use in adolescents. Hair-bearing areas with warts should be shaved with depilatories,
electric razors, or not at all to help limit spread of warts.
Tretinoin cream, 0.025 percent, 0.05 percent, or 0.1 percent,
applied at bedtime over the entire involved area is one accepted
treatment. The frequency of application is then adjusted so as to
produce a mild, ne scaling and erythema. Sun protection is
FO LLO W-UP
important. Treatment may be required for weeks or months and
may not be effective. No published studies were found to support Schedule patients for a return visit in 2 to 3 weeks after therapy to
this treatment. SO R Safety and ef cacy in children under age assess ef cacy.
12 years is not established.
Intralesional injections with Candida antigen induces a localized, PATIENT EDUCATIO N
cell-mediated, and HPV-speci c response that may target the
injected wart as well as more distant warts. This method has mod-
To help avoid spreading warts, patients should avoid touching or
erate effectiveness (60% cure rates) for treatment of recalcitrant
scratching the lesions.
warts ( ). 2 The Candida antigen must be diluted before
used (see ). Inject 0.1 to 0.3 mL into the largest warts Razors that are used in areas where warts are located should not be
using a 30-gauge needle and up to 1 mL per treatment. Warn the used on normal skin or by other people to prevent spread.
patient to expect itching in the area, burning, or peeling. Repeat
every 4 weeks, up to three treatments or until warts are gone. 11 PATIENT RESO URCES
SO R KidsHealth—www.kidshealth.org/ parent/ infections/
Cantharidin 0.7 percent is an extract of the blister beetle that is skin/ wart.html.
applied to the wart after which blistering occurs. It may be used in American Academy of Dermatology—www.aad.org/
resistant cases. 12 It is also useful in young children because applica- public/ Publications/ pamphlets/ Warts.htm.
tion is painless in the of ce. However, painful blisters often occur MedlinePlus. Warts—www.nlm.nih.gov/ medlineplus/
within a day after application. Be careful not to overtreat with can- .
tharidin because the blistering can be quite severe. Carefully apply
to multiple lesions using the wooden end of one or two cotton-
tipped applicators. SO R
Bacelieri R, Johnson SM: Cutaneous warts. An evidence-based
SURGICAL approach to therapy. Am Fam Physician. 2005;72:647-652—
Cryotherapy, most commonly with liquid nitrogen, is useful but .
is somewhat painful for younger children. 7 SO R Chemical cryo- Cochrane Review. Topical Treatments for Cutaneous Warts—
gens are now available over the counter but are not as cold or .
effective as liquid nitrogen. Most trials comparing cryotherapy with Treatment of warts is covered extensively in: Usatine R,
salicylic acid found similar effectiveness. 2 Liquid nitrogen is applied Pfenninger J, Stulberg D, Small R. Dermatologic and Cosmetic
for 5 to 10 seconds via a Cryogun or a cotton swab so that the Procedures in Of ce Practice. Elsevier, Inc., Philadelphia. 2012.
freeze ball extends 1 to 2 mm beyond the lesion. Because at This can also be purchased as an electronic application at
warts are thinner than common warts, the freeze times needed are www.usatinemedia.com.
shorter. Two freeze cycles may improve resolution, but it is better
PART 14
FLAT WARTS 675
DERMATO LO GY
REFERENCES 7. Lee S, Kim J-G, Chun SI. Treatment of verruca plana with 5%
1. Williams H, Pottier A, Strachan D. Are viral warts seen more 5- uorouracil ointment. Dermatologica. 1980;160:383-389.
commonly in children with eczema? Arch Dermatol. 1993;129: 8. Cutler K, Kagen MH, Don PC, et al. Treatment of facial verrucae
717-720. with topical imiquimod cream in a patient with human immuno-
2. Mulhem E, Pinelis S. Treatment of nongenital cutaneous warts. de ciency virus. Acta Derm Venereol. 2000;80:134-135.
Am Fam Physician. 2011;84(3):288-293. 9. Kim MB. Treatment of at warts with 5% imiquimod cream.
3. Sterling JC, Hand eld-Jones S, Hudson PM. British Association of J Eur Acad Dermatol Venereol. 2006;20(10):1349-1350.
Dermatologists. Guidelines for the management of cutaneous 10. Schwab RA, Elston DM. Topical imiquimod for recalcitrant facial
warts. Br J Dermatol. 2001;144(1):4-11. at warts. Cutis. 2000;65:160-162.
4. Tey HL, Tan ES, Tan FG, Tan KL, Lim IS, Tan AS. Reducing anxiety 11. Ritter SE, Meffert J. Successful treatment of at warts using in-
levels in preschool children undergoing cryotherapy for cutaneous tralesional Candida antigen. Arch Dermatol. 2003;139(4):541-542.
viral warts: use of a portable video player. Arch Dermatol. 2012; 12. Kartal Durmazlar SP, Atacan D, Eskioglu F. Cantharidin treatment
148(9):1001-1004. for recalcitrant facial at warts: a preliminary study. J Dermatolog
5. Gibbs S, Harvey I. Topical treatments for cutaneous warts. Cochrane Treat. 2009;20(2):114-119.
Database Syst Rev. 2006;(3):CD001781. 13. Tabrizi SN, Garland SM. Is cryotherapy treating or infecting? Med
6. Lockshin NA. Flat facial warts treated with uorouracil. Arch J Aust. 1996;164(5):263.
Dermatol. 1979;115:929-1030.
PART 14
676 CHAPTER 118
DERMATO LO GY
118 GENITAL WARTS EPIDEMIO LO GY

Anogenital warts are the most common viral STD in the US. There
are approximately 1 million new cases of genital warts per year in
the US. 2
Most infections are transient and cleared within 2 years. 2
PATIENT STO RY Some infections persist and recur and cause much distress for the
patients.
A 16-year-old boy presents with growths in the genital area for about
1 month ( ). He has never had a sexually transmitted
disease (STD) or vaccination against human papillomavirus (HPV) ETIO LO GY AND PATHO PHYSIO LO GY
infection. He has had multiple sexual partners. The patient is told
that he has genital warts which are an STD caused by HPV. The treat- Genital warts are caused by HPV infection in males ( )
ment options are discussed and he chooses to have cryotherapy with and females ( ). HPV encompasses a family of primar-
liquid nitrogen. A urine test for gonorrhea and Chlamydia is per- ily sexually transmitted double-stranded DNA viruses. The incuba-
formed and the patient is tested for syphilis and HIV. Fortunately, all tion period after exposure ranges from 3 weeks to 8 months.
the additional tests are negative. Further patient education is per-
HPV can be transmitted both sexually and non-sexually. 3 Cutane-
formed and follow-up is arranged.
ous HPV types can persist over a long time in healthy skin. 4 HPV
DNA detection in amniotic uid, fetal membranes, cord blood and
placental trophoblastic cells all suggest some HPV infection may
INTRO DUCTIO N occur in utero (prenatal transmission). 3
More than 100 types of HPV exist, with more than 40 that can infect The rst systematic review on vertical transmission of HPV included
the human genital area. Most HPV infections are asymptomatic, 2,113 newborns found the pooled mother-to-child HPV transmission
unrecognized, or subclinical. Low-risk HPV types (e.g., HPV types 6 was 6.5 percent. Transmission was higher after vaginal delivery than
and 11) cause genital warts, although coinfection with HPV types after caesarean section (18.3% vs 8%) (RR = 1.8; 95% CI 1.3–2.4).5
associated with squamous intraepithelial neoplasia can occur. Asymp-
tomatic genital HPV infection is common in sexually active persons
and usually self-limited. 1
SYNO NYMS
Condyloma acuminata.
FIGURE 118-2 Multip le vulvar e xop hytic cond yloma in an 18-ye ar-old
FIGURE 118-1 Cond yloma acuminata in 16-ye ar-old circumcise d b oy woman. She had ne ve r had a se xually transmitte d d ise ase (STD) or
not p racticing safe se x. He has isolate d le sions on the shaft of the vaccination ag ainst human p ap illomavirus (HPV) b ut ad mitte d to 2 ne w
p e nis. He was tre ate d with cryothe rap y using liq uid nitrog e n. (Use d se xual p artne rs in the p rior 6 months. (Use d with p e rmission from
with p e rmission from Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
GENITAL WARTS 677
DERMATO LO GY
FIGURE 118-3 Pe rianal cond yloma in a 2-ye ar-old g irl fo r 2 months. FIGURE 118-4 Smooth-top p e d cond ylo ma o n the we ll-ke ratinize d
The child was b roug ht in b y he r mothe r who d id have warts on he r skin of a circumcise d te e n. (Use d with p e rmission from Richard P.
hand s. The mothe r claims that the child is always with he r imme d iate Usatine , MD.)
family, ne ve r in d ay care , and no one in the family had g e nital warts.
The clinician d id not susp e ct child ab use , d id not le a re p ort and
tre ate d the cond yloma to p ically. (Imag e use d with p e rmission from Genital warts are usually asymptomatic, and typically present as
Rob e rt Brod e ll, MD.) esh-colored, exophytic lesions on the genitalia, including the
penis, vulva, vagina, scrotum, perineum, and perianal skin.
External warts can appear as small bumps, or they may be at,
Most of the mucosal HPV infections in infants are incidental, per-
verrucous, or pedunculated ( to ).
sistent infections in oral and genital mucosa being found in less than
10 and 2 percent respectively. 3 Condyloma acuminata in children Less commonly, warts can appear as reddish or brown, smooth,
younger than two to three years of age are more likely the result of raised papules, or as dome-shaped lesions on keratinized skin.
maternal-child transmission, but may be due to sexual or nonsexual
transmission ( ). TYPICAL DISTRIBUTIO N
In one study, 73 children with anogenital warts were examined for In women, the most common sites of infection are the vulva
sexual abuse during a 2-year period. Approximately 25 percent of ( ), perianal area, and the vagina.
these children were younger than age 1 year, and another 50 percent In men, the most common sites of infection are the penis
were between the ages of 1 and 3 years. No evidence of sexual abuse ( , and to and scrotum.
was detected in 66 children. The authors concluded that nonsexual Perianal warts can occur in men or women who have a history of
transmission is common, particularly in children under 3 years of age. 6 anal intercourse, and in those who do not have any such history
HPV testing of mothers does not exclude sexual abuse and is not ( ). 1
generally performed.
Evaluation for potential sexual abuse should be considered,
especially in older children, and evaluation by appropriately
experienced professionals considered.
RISK FACTO RS
Sexual intercourse and oral sex.

Other types of sexual activity including digital–anal, oral–anal, and
digital–vaginal contact.
Immunosuppression, especially HIV.
DIAGNO SIS
CLINICAL FEATURES
FIGURE 118-5 Cond yloma can take on a cauli owe r ap p e arance e ve n
Diagnosis of genital warts is usually clinical based on visual on the we ll-ke ratinize d skin of a circumcise d male . (Use d with p e rmis-
inspection. 1 sio n from Richard P. Usatine , MD.)
PART 14
678 CHAPTER 118
DERMATO LO GY
FIGURE 118-8 Cond yloma that starte d on the p e nis and sp re ad up

the ab d ome n and o n to the thig hs. Note how the se warts are hyp e r-
p ig me nte d in this b lack te e nag e r. (Use d with p e rmission from Richard
P. Usatine , MD.)
FIGURE 118-6 Cond yloma acuminata d e monstrating a cauli owe r

ap p e arance with typ ical p ap illary surface se e n whe n the fore skin is
re tracte d in an uncircumcise d young man. Note that the top wart is
p e d unculate d with a narrow b ase . (Use d with p e rmission from Richard
P. Usatine , MD.)
Condyloma acuminata may be seen on the abdomen or upper

thighs in conjunction with genital warts ( ).

A screen for syphilis and a HIV test should be ordered as well.
Genital warts are a sexually transmitted disease and patients who
have one STD should be screened for others ( ).
HPV viral typing is not recommended because test results would
not alter clinical management of the condition. The application of
FIGURE 118-9 This te e nag e r te ste d p ositive for syp hilis at the time
she p re se nte d with cond yloma acuminata. While he r RPR was p ositive
FIGURE 118-7 Exte nsive p e rianal warts in a 17-ye ar-old b oy who the se warts we re more like ly to b e HPV re late d rathe r than the cond y-
d e nie s se xual ab use and anal inte rcourse . Patie nt faile d imiq uimod loma lata of se cond ary syp hilis. The p atie nt was tre ate d with IM b e nza-
the rap y and was re fe rre d to surg e ry. (Use d with p e rmission from thine p e nicillin and cryothe rap y. (Use d with p e rmission from Richard P.
Richard P. Usatine , MD.) Usatine , MD.)
PART 14
GENITAL WARTS 679
DERMATO LO GY
3 to 5 percent acetic acid to detect mucosal changes attributed to

HPV infection is no longer recommended. 1
BIO PSY
Diagnosis may be con rmed by shave or punch biopsy if necessary. 1
Biopsy is indicated if:
~ The diagnosis is uncertain.
~ The patient has a poor response to appropriate therapy.
~ Warts are atypical in appearance (unusually pigmented, indu-
rated, xed, or ulcerated).

~ The patient has compromised immunity and squamous cell
carcinoma is suspected (one type of HPV-related malignancy).
DIFFERENTIAL DIAGNO SIS A
Pearly penile papules, which are small papules around the edge of the
glans penis ( ), may be confused with genital warts.
Molluscum contagiosum—Waxy umbilicated papules around
the genitals and lower abdomen (see Chapter 115, Molluscum
Contagiosum).
Condyloma lata is caused by secondary syphilis infection; lesions
appear at and velvety (see Chapter 181, Syphilis). A full work-up
for other STDs, including syphilis, should be done for any patient
with genital warts ( ).
Micropapillomatosis of the vulva is a normal variant and appears as
distinct individual papillary projections from the labia in a symmet-
rical pattern.
MANAGEMENT B
The primary reason for treating genital warts is the amelioration of FIGURE 118-11 A. Cond yloma on the p e nile shaft of a se xually active
te e nag e r not p racticing safe se x. B. Cryothe rap y of the cond yloma
symptoms and ultimately removal of the warts. 1 using a liq uid nitrog e n sp ray te chniq ue and a b e nt-tip p e d ap p licator.
The choice of therapy is based on the number, size, site, and mor-
phology of lesions, as well as patient preference, treatment cost,
convenience, adverse effects, and physician experience.
Although available therapies for genital warts are likely to reduce
HPV infectivity, they probably do not eradicate transmission. 1
MEDICATIO NS AND SURGICAL METHO DS

Treatments for external genital warts include topical medications,
cryotherapy ( ), and surgical methods, and are
shown in .
For children under 12 years of age, there are no US Food and Drug
Administration-approved treatments for genital warts. 11
Cryotherapy is best applied with a bent-tipped spray applicator that
allows for precise application with a less painful attenuated ow
( ). 12 Application may be repeated every 2 weeks if
necessary.
FIGURE 118-10 Cond yloma coe xisting with p e arly p e nile p ap ule s
(PPPs), which are a normal variant o n the e d g e of the corona. (Use d Treatment with 5 percent uorouracil cream (Efudex) is no longer
with p e rmission from Richard P. Usatine , MD.) recommended because of severe local side effects and teratogenicity.1
PART 14
680 CHAPTER 118
DERMATO LO GY
TABLE 118-1 Tre atme nts for Exte rnal Ge nital Warts
Cle arance Re curre nce

Tre at me nt Po ssib le Ad ve rse Effe ct s (%) (%)
Pat ie nt -Ap p lie d The rap y
Imiq uimod (Ald ara) is ap p lie d at b e d time for Erythe ma, irritation, ulce ration, p ain, 30 to 50 15
3 d ays, the n re st 4 d ays; alte rnative ly, ap p ly and p ig me ntary chang e s; minimal
e ve ry othe r d ay for 3 ap p lications; may re - syste mic ab sorp tion
p e at we e kly cycle s for up to 16 we e ks 8 SO R
Sine cate chins 15 p e rce nt ointme nt—Ap p ly Erythe ma, p ruritus/b urning , p ain, 53 to 57 3.7
a 0.5-cm strand of ointme nt to e ach wart ulce ration, e d e ma, ind uration, and
3 time s d aily6 SO R ve sicular rash
Pod o lox (Cond ylox) is ap p lie d twice d aily Burning , p ain, in ammation; low risk 45 to 80 5 to 30
for 3 d ays, the n re st 4 d ays; may re p e at for for syste mic toxicity unle ss ap p lie d
4 cycle s 7 SO R to occlud e d me mb rane s
Pro vid e r-Ap p lie d The rap y
Cryothe rap y p e rforme d with liq uid nitrog e n or Pain or b liste rs at ap p lication site , 60 to 90 20 to 40
a cryop rob e 6 SO R scarring
Pod op hyllin re sin is ap p lie d to e ach wart and Local irritation, erythema, burning, and 30 to 80 20 to 65
allowe d to d ry, and is re p e ate d we e kly as sore ne ss at ap p lication site ; ne uro-
ne e d e d 6,10 SO R toxic and oncog e nic if ab sorb e d
Surg ical tre atme nt for warts involve s re moval Pain, b le e d ing , scarring ; risk for b urn- 35 to 70 5 to 50
to the d e rmal–e p id e rmal junction; op tions ing and alle rg ic re action from local
includ e scissor e xcision, shave e xcision, lase r ane sthe tic; lase r and LEEP have risk
vap orization, and loop e le ctrosurg ical e xci- for sp re ad ing HPV in p lume
sion p roce d ure (LEEP) e xcision 9 SO R
Trichloroace tic acid (TCA) and b ichlorace tic Local p ain and irritation; no syste mic 50 to 80 35
acid (BCA) are ap p lie d to e ach wart and sid e e ffe cts
allowe d to d ry; re p e ate d we e kly6 SO R
In younger children, cryotherapy is often not well tolerated warts (i.e., types 6 and 11) in males and females when given pro-
because of associated pain. Some authors suggest applying topical phylactically. Both vaccines offer protection against the HPV types that
anesthetics prior to cryotherapy. However, a double-blind, ran- cause 70 percent of cervical cancers (i.e., types 16 and 18). In the
domized, controlled trial using eutectic lidocaine/ prilocaine 5 per- US, the quadrivalent (Gardasil) HPV vaccine can also be used in
cent cream for local anesthesia before cryotherapy of nongenital males and females ages 9 to 26 years to prevent genital warts.7
warts in children ages 6 to 18 did not signi cantly decrease the pain
associated with the procedure. 13 SO R
PRO GNO SIS
Podophyllotoxin 0.5 percent gel and imiquimod 5 percent cream
has been safely used in children as young as age 1 year. 14,15 SO R Many genital warts will eventually resolve without treatment.
Resolution can usually be hastened with therapy ( ).
Consider consultation for patients with very large or recalcitrant
FO LLO W-UP
lesions.
Patients should be offered a follow-up evaluation 2 to 3 months
after treatment to check for new lesions. 1 SO R
PREVENTIO N
A bivalent vaccine (Cervarix) containing HPV types 16 and 18, and a PATIENT EDUCATIO N
quadrivalent vaccine (Gardasil) vaccine containing HPV types 6, 11,
16, and 18 are licensed in the US. The quadrivalent HPV vaccine HPV is transmitted mainly by skin-to-skin contact. Although con-
protects against the HPV types that cause 90 percent of genital doms may decrease the levels of transmission, they are imperfect
PART 14
GENITAL WARTS 681
DERMATO LO GY
barriers at best as they can fail, and they do not cover the scrotum 5. Medeiros LR, Ethur AB, Hilgert JB, Zanini RR, Berwanger O,
or vulva, where infection may reside. Bozzetti MC, Mylius LC. Vertical transmission of the human
papillomavirus: a systematic quantitative review. Cad Saude
PATIENT RESO URCES Publica. 2005;21(4):1006-1015.
eMedicineHealth. Genital Warts (HPV Infection)—www 6. Cohen BA, Honig P, Androphy E. Anogenital warts in children.
.emedicinehealth.com/ genital_warts/ article_em.htm. Clinical and virologic evaluation for sexual abuse. Arch Dermatol.
1990;126(12):1575-1580.
PubMed Health. Genital Warts—www.ncbi.nlm.nih.gov/
. 7. Centers for Disease Control and Prevention (CDC). FDA licen-
sure of quadrivalent human papillomavirus vaccine (HPV4,
American Academy of Dermatology. Genital Warts—
Gardasil) for use in males and guidance from the Advisory
Committee on Immunization Practices (ACIP). MMWR Morb
.
Mortal Wkly Rep. 2010;59(20):630-632.
MedlinePlus. Genital Warts—www.nlm.nih.gov/
8. Gotovtseva EP, Kapadia AS, Smolensky MH, Lairson DR. Optimal
.
frequency of imiquimod (Aldara) 5% cream for the treatment
of external genital warts in immunocompetent adults: a meta-
PRO VIDER RESO URCES analysis. Sex Transm Dis. 2008;35(4):346-351.
Centers for Disease Control and Prevention. Genital Warts— 9. Mayeaux EJ Jr, Dunton C. Modern management of external genital
. warts. J Low Genit Tract Dis. 2008;12:185-192.
Medscape. Genital Warts—http:// emedicine.medscape.com/ 10. Langley PC, Tyring SK, Smith MH. The cost effectiveness of
. patient-applied versus provider-administered intervention strate-
Medscape. Genital Warts in Emergency Medicine— gies for the treatment of external genital warts. Am J Manag Care.
http:/ . 1999;5(1):69-77.
11. Thornsberry L, English JC 3rd: Evidence-based treatment and
prevention of external genital warts in female pediatric and ado-
REFERENCES lescent patients. J Pediatr Adolesc Gynecol. 2012;25(2):150-154.
1. Centers for Disease Control and Prevention. 2010 Guidelines for 12. Usatine R, Stulberg D. Cryosurgery. In: Usatine R, Pfenninger J,
Treatment of Sexually Transmitted Diseases. http:// www.cdc.gov/ Stulberg D, Small R, eds. Dermatologic and Cosmetic Procedures in
std/ treatment/ 2010/ STD-Treatment-2010-RR5912.pdf, Of ce Practice. Philadelphia: Elsevier; 2012:182-198.
accessed December 1, 2011. 13. Gupta AK, Koren G, Shear NH. A double-blind, randomized,
2. Burk RD, Kelly P, Feldman J, et al. Declining prevalence of cervi- placebo-controlled trial of eutectic lidocaine/ prilocaine cream
covaginal human papillomavirus infection with age is independent 5% (EMLA) for analgesia prior to cryotherapy of warts in chil-
of other risk factors. Sex Transm Dis. 1996;23:333-341. dren and adults. Pediatr Dermatol. 1998;15:129e33.
3. Syrjänen S. Current concepts on human papillomavirus infections 14. Moresi JM, Herbert CR, Cohen BA. Treatment of anogenital
in children. APMIS. 2010;118(6-7):494-509. warts in children with topical 0.05% podo lox gel and 5%
4. Hsu JYC, Chen ACH, Keleher A, McMillan NAJ, Antonsson A. imiquimod cream. Pediatr Dermatol. 2001;18:448e50.
Shared and persistent asymptomatic cutaneous human 15. Leclair E, Black A, Fleming N. Imiquimod 5% cream treatment
papillomavirus infections in healthy skin. J Med Virol. 2009;81: for rapidly progressive genital condyloma in a 3-year-old girl.
1444-1449. J Pediatr Adolesc Gynecol. 2012;25 (6):e119-21. doi: 10.1016.
PART 14
682 CHAPTER 119
DERMATO LO GY
119 PLANTAR WARTS

PATIENT STO RY
A 15-year-old boy presents with painful growths on his right heel for
approximately 6 months ( ). It is painful to walk on and
he would like it treated. He was diagnosed with multiple large plan-
tar warts called mosaic warts. The lesions were treated with gentle par-
ing with a # 15 blade scalpel and liquid nitrogen therapy over a num-
ber of sessions. He and his mom were instructed on how to use
salicylic acid plasters on the remaining warts.
INTRO DUCTIO N FIGURE 119-2 Close -up of p lantar wart on the sid e of the he e l. Note
the d isrup tion of skin line s and b lack d ots. (Use d with p e rmission from
Plantar warts (verruca plantaris) are human papilloma virus (HPV)
lesions that occur on the soles of the feet ( to )
and palms of the hands ( ).
SYNO NYMS Plantar warts are caused by HPV.
They usually occur at points of maximum pressure, such as on
Palmoplantar warts, myrmecia.
the heels ( to ) or over the heads of the
metatarsal bones ( and ), but may appear
EPIDEMIO LO GY anywhere on the plantar surface including the tips of the ngers
( ).
Plantar warts affect mostly adolescents and young adults, affecting A thick, painful callus forms in response to the pressure that is
up to 10 percent of people in these age groups. 1 induced as the size of the lesion increases. Even a minor wart can
Prevalence studies demonstrate a wide range of values, from cause a lot of pain.
0.84 percent in the US2 to 3.3 to 4.7 percent in the United A cluster of many warts that appear to fuse is referred to as a mosaic
Kingdom, 3 to 24 percent in 16- to 18-year-olds in Australia. 4 wart ( and ).
FIGURE 119-3 Close -up of a p lantar wart d e monstrating d isrup tion of

FIGURE 119-1 Plantar warts. Note small b lack d ots in the warts that normal skin line s. Corns and callus d o no t d isrup t normal skin line s. The
re p re se nt thromb ose d ve sse ls. Larg e p lantar warts such as the se are b lack d ots are thromb ose d ve sse ls, which are fre q ue ntly se e n in p lantar
calle d mosaic warts. (Use d with p e rmission from Richard P. Usatine , warts. (Use d with p e rmission from Richard P. Usatine , MD.)
MD.)
PART 14
PLANTAR WARTS 683
DERMATO LO GY
FIGURE 119-4 A mosaic wart is forme d whe n se ve ral p lantar warts FIGURE 119-6 Multip le p lantar warts on the p alms of an HIV-p ositive
b e come con ue nt. (Use d with p e rmission from Richard P. Usatine , MD.) young man. (Use d with p e rmission from Richard P. Usatine , MD.)
Have a rough keratotic surface surrounded by a smooth collar of

RISK FACTO RS callused skin
Painful when compressed laterally.
Young age.
May have centrally located black dots (thrombosed vessels) that
Decreased immunity.
may bleed with paring ( to ).
DIAGNO SIS
They occur on the palms of the hands and soles of the feet. They
CLINICAL FEATURES are more commonly found on weight-bearing areas, such as under
the metatarsal heads or on the heel. 5
Plantar warts present as thick, painful endophytic plaques located on
the soles and/ or palms. Warts have the following features: BIO PSY
Begin as small shiny papules. If the diagnosis is doubtful, a shave biopsy is indicated to con rm
Lack skin lines crossing their surface ( ). the diagnosis. 6
Have a highly organized mosaic pattern on the surface when exam-
ined with a hand lens.
FIGURE 119-5 Multip le p lantar warts on the b all of the foot and toe s. FIGURE 119-7 Close -up of p lantar wart on a ng e r that also shows
The thromb ose d ve sse ls within the warts ap p e ar as b lack d ots. (Use d d isrup tion of skin line s and b lack d ots. (Use d with p e rmission from
PART 14
684 CHAPTER 119
DERMATO LO GY
Corns and calluses are pressure-induced skin thickenings that occur

on the feet and can be mistaken for plantar warts. Calluses are gen-
erally found on the sole and corns are usually found on the toes.
Calluses and corns have skin lines crossing the surface, and are
painless with lateral pressure.
Black heel presents as a cluster of blue-black dots that result from
ruptured capillaries. They appear on the plantar surface of the heel
following the shearing trauma of sports that involve sudden stops
or position changes. Examination reveals normal skin lines, and
paring does not cause additional bleeding. The condition resolves
spontaneously in a few weeks.
Black warts are plantar warts undergoing spontaneous resolution, A
which may turn black and feel soft when pared with a blade. 7
Squamous cell carcinoma should be considered when lesions have
irregular growth or pigmentation, ulceration, or resist therapy,
particularly in immunosuppressed patients.
Amelanotic melanoma, although extremely rare, can look similar
to HPV lesions. Lesions that are treatment resistant or atypical,
particularly on the palms or soles, should be monitored closely.
A biopsy is required to establish the diagnosis (see Chapter 147,
Melanoma).
Palmoplantar keratoderma describes a rare heterogeneous group of
disorders characterized by thickening of the palms and the soles
that can also be an associated feature of different syndromes. They
can be classi ed as having uniform involvement versus focal hyper-
keratosis located mainly on pressure points and sites of recurrent
friction ( ). This latter type can be differentiated from
plantar warts by the more diffuse locations on the palmoplantar
surfaces, the mainly epidermal involvement, and biopsy, if neces-
sary ( ).
MANAGEMENT
NO NPHARMACO LO GIC
Painless plantar warts do not require therapy. Minimal discomfort B
can be relieved by periodically removing the hyperkeratosis with a
blade or pumice stone. FIGURE 119-8 Focal p almop lantar ke ratod e rma of the p alms (A) and
sole s (B). This is an inhe rite d g e nod e rmatosis. Note le sions are locate d
Painful warts should be treated using a technique that causes mini- mainly on hig he r p re ssure are as. (Use d with p e rmission from Richard P.
mal scarring as scars on the soles of the feet are usually permanent Usatine , MD.)
and painful.
Patients with diabetes must be treated with the utmost care to min- with adhesive tape. 8 White, pliable, keratin forms and should be
imize complications. pared away carefully until pink skin is exposed. 9 SO R
Seventeen to fty percent salicylic acid solution and plasters are avail-
MEDICATIO NS able in nonprescription and prescription forms. However, the 17 per-
Topical salicylic acid solutions are available in nonprescription form cent solutions are more prevalent and easier to nd in nonprescrip-
and provide conservative keratolytic therapy. These preparations tion form. The treatment is similar to the previous process, except
are nonscarring, minimally painful, and relatively effective, but that with plasters the salicylic acid has been incorporated into a pad.
require persistent application of medication once each day for They are particularly useful in treating mosaic warts covering
weeks to months. The wart is rst pared with a blade, pumice a large area. Pain is quickly relieved in plantar warts, because a
stone, or emery board, and the area soaked in warm water. The large amount of keratin is removed during the rst few days of
solution is then applied, allowed to dry, reapplied, and occluded treatment.9 SOR A recent multicenter, open-label, randomized,
PART 14
PLANTAR WARTS 685
DERMATO LO GY
A B
FIGURE 11 9-9 Diffuse p almop lantar ke ratod e rma of the p alms (A) and sole s (B) in an 11-ye ar-old g irl. This
is an inhe rite d g e nod e rmatosis with se ve re functional conse q ue nce s. (Use d with p e rmissio n fro m Richard P.
Usatine , MD.)
controlled trial found that 50 percent salicylic acid and the cryother- sensitize the patient and then to the lesion to induce an immune
apy were equally effective for clearance of plantar warts. 10 SOR response. Intralesional bleomycin or laser therapy are also useful
Acid chemotherapy with trichloroacetic acid (TCA) or bichlorace- for recalcitrant warts. SO R
tic acid (BCA) is commonly employed to treat plantar warts in
the of ce. They are considered safe during pregnancy for external CO MPLEMENTARY/ ALTERNATIVE THERAPY
lesions. The excess keratin is rst pared with a scalpel, then the Although many complementary and alternative therapies are pro-
entire lesion is coated with acid, and the acid is worked into the moted for wart therapy, there are no signi cant data supporting
wart with a sharp toothpick. The process is repeated every 7 to their use in the treatment of plantar warts.
10 days. SO R
Cryotherapy with liquid nitrogen therapy is commonly used, but
plantar warts are more resistant than other HPV lesions. The liquid PREVENTIO N
nitrogen is applied to form a freeze ball that covers the lesion and
2 mm of surrounding normal tissue, usually 10 to 20 seconds per Tools used for paring down warts, such as nail les and pumice
freeze. SO R There is no evidence that two freezing episodes are stones, should not be used on normal skin or by other people.
better than one, other than it allows for more freeze time in a way
that is more acceptable to the patient. It is always better to under-
freeze than to overfreeze in areas where scarring can produce PRO GNO SIS
permanent disability.
Treatments for resistant lesions are often carried out in referral Most plantar warts will spontaneously disappear without treatment.
practices that have a high enough volume to use more expensive Treatment often hastens resolution of lesions.
or specialized therapy. Cantharidin is an extract of the blister
beetle that is applied to the wart after which blistering occurs.
Intralesional immunotherapy with skin-test antigens (i.e., mumps, FO LLO W-UP
Candida, or Trichophyton antigens) may lead to the resolution both
of the injected wart and other warts that were not injected. Contact Regular follow-up to assess treatment ef cacy, adverse reactions,
immunotherapy using dinitrochlorobenzene, squaric acid dibutyl- and patient tolerance are recommended to minimize treatment
ester, and diphenylcyclopropenone may be applied to the skin to dropouts.
PART 14
686 CHAPTER 119
DERMATO LO GY
2. Johnson ML, Roberts J. Skin conditions and related need for

PATIENT EDUCATIO N medical care among persons 1-74 years. Rockville, MD. US
Department of Health, Education, and Welfare; 1978:1-26.
Because spontaneous regression occurs, observation of painless
3. Williams HC, Pottier A, Strachan D. The descriptive epidemiology
lesions without treatment is preferable.
of warts in British schoolchildren. Br J Dermatol. 1993;128:
Therapy often takes weeks to months, so patience and perseverance 504-511.
are essential for successful therapy.
4. Kilkenny M, Merlin K, Young R, Marks R. The prevalence of com-
mon skin conditions in Australian school students: 1. Common,
PATIENT RESO URCES plane and plantar viral warts. Br J Dermatol. 1998;138:840-845.
MayoClinic. Plantar Warts—www.mayoclinic.com/ 5. Holland TT, Weber CB, JamesWD. Tender periungual nodules.
. Myrmecia (deep palmoplantar warts). Arch Dermatol. 1992;
MedlinePlus. Warts—www.nlm.nih.gov/ medlineplus/ 128(1):105-106, 108-109.
warts.html. 6. Beutner, KR. Nongenital human papillomavirus infections. Clin
Fort Drum Medical Activity. Patient Education Handouts: Warts Lab Med. 2000;20:423-430.
and Plantar Warts—www.drum.amedd.army.mil/ pt_info/ 7. Berman A, Domnitz JM, Winkelmann RK. Plantar warts recently
handouts/ warts_Plantar.pdf. turned black. Arch Dermatol. 1982;118:47-51.
8. Landsman MJ, Mancuso JE, Abramow SP. Diagnosis, patho-
PRO VIDER RESO URCES physiology, and treatment of plantar verruca. Clin Podiatr
Bacelieri R, Johnson SM: Cutaneous warts: an evidence-based Med Surg. 1996;13(1):55-71.
approach to therapy. Am Fam Physician. 2005;724:647-652— 9. Gibbs S, Harvey
.
Cochrane Summaries. Topical Treatments for
Medscape. Nongenital Warts—http:// emedicine.medscape CutaneousWarts. http:// www.cochrane.org/ reviews/ en/
. ab001781.html, accessed April 1, 2008.
10. Cockayne S, Hewitt C, Hicks K, et al. Cryotherapy versus salicylic
acid for the treatment of plantar warts (verrucae): a randomized
REFERENCES
controlled trial. BMJ. 2011;342:d3271.
1. Laurent R, Kienzler JL. Epidemiology of HPV infections. Clin
Dermatol. 1985;3(4):64-70.
PART 14
FUNGAL O VERVIEW 687
DERMATO LO GY
SECTIO N 5 FUNGAL
120 FUNGAL O VERVIEW

PATIENT STO RY
An otherwise healthy 7-year-old boy is seen in a homeless shelter

with a 2-month history of patchy hair loss ( ). Various
anti-dandruff shampoos had not helped. On physical exam, there are
moderate areas of patchy alopecia with signi cant scaling of the scalp.
Posterior cervical adenopathy could be seen and palpated on the left
side. There was no uorescence with a Wood’s lamp indicating that
this fungal infection was most likely Trichophyton tonsurans. The pedia-
trician easily identi ed this as tinea capitis but decided to con rm the
diagnosis with a KOH preparation. Some of the scale was scraped FIGURE 120-2 Annular p ruritic le sion with conce ntric ring s in the axilla
of a young woman cause d b y tine a corp oris. The conce ntric ring s have
from the scalp using two microscope slides (one to scrape and a hig h sp e ci city for tine a infe ctions. (Use d with p e rmission from
another to catch the scale). KOH was added and a coverslip placed. Richard P. Usatine , MD.)
Branching hyphae were seen under the microscope. The child was
treated with oral griseofulvin at 20 mg per kilogram per day. At the
4-week follow-up there was signi cant improvement, no reported
side effects of the griseofulvin, and the treatment was continued for INTRO DUCTIO N
an additional 4 weeks.
Fungal infections of the skin and mucous membranes are ubiquitous and
common. There are many types of fungus that grow on humans but they
all share a predilection for warm and moist areas. Consequently, hot and
humid climates promote fungal infections, but many areas of the skin can
get warm and sweaty even in cold climates, such as the feet and groin.
SYNO NYMS
Pityriasis versicolor equals tinea versicolor.
PATHO PHYSIO LO GY
Mucocutaneous fungal infections are caused by:

Dermatophytes in three genera: Microsporum, Epidermophyton, and
Trichophyton. There are approximately 40 species in the three gen-
era and these fungi cause tinea pedis and manus, tinea capitis, tinea
corporis, tinea cruris, tinea faciei, and onychomycosis (
120-1 to 120-6).
Yeasts in the genera of Candida and Pityrosporum (Malassezia)—
There are also multiple types of species and the Pityrosporum that
cause seborrhea and tinea versicolor ( and 120-8).
Although tinea versicolor has the name tinea in it, it is not a true
dermatophyte and may be best called pityriasis versicolor.
There are a number of deep fungal skin infections that can occur in
FIGURE 120-1 Tine a cap itis in a young African Ame rican b oy showing
patchy alopecia and posterior cervical adenopathy. (Used with permission humans. They are all rare and will not be covered in this chapter
from Richard P. Usatine , MD.) which focuses on dermatophyte and yeast organisms. One deep
PART 14
688 CHAPTER 120
DERMATO LO GY
FIGURE 120-3 Tine a cruris with we ll-d e marcate d raise d b ord e r and no FIGURE 120-6 Tine a p e d is with onychomycosis in a 14-ye ar-old b oy.
ce ntral cle aring . (Use d with pe rmission from Richard P. Usatine , MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 120-4 Tine a cap itis in a 6-ye ar-old b oy with one major are a of FIGURE 120-7 Thrush in the mouth of an infant cause d b y Cand id a.
alop e cia along with scale . (Photo Cre d it: Dr. Patrick E. McCle ske y, MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 120-8 Tine a ve rsicolor in a 13-ye ar-old g irl with an annular

p atte rn on the should e rs. The re is some ce ntral hyp op ig me ntation and
FIGURE 120-5 Tine a cap itis in a 5-ye ar-old b lack g irl with hair loss and scale . The g irl has se b orrhe a of the scalp also cause d b y Pityrosp orum
an in ammatory re sp onse . He r ke rion is he aling afte r initiating oral (Malasse zia). The tine a ve rsicolor was p rove n with a p ositive KO H.
g rise ofulvin. (Use d with p e rmission from Richard P. Usatine , MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 120-10 Tine a facie i on the face of a te e nag e fe male with

FIGURE 120-9 Sp orotrichosis in a te e nag e b oy. This d e e p fung al typ ical scaling and a ring -like p atte rn (ring worm). Note the we ll-
infe ction starte d with an inoculation to his ind e x ng e r and sp re ad up d e marcate d raise d b ord e r and ce ntral cle aring . (Photo Cre d it:
his arm. (Use d with p e rmission from Richard P. Usatine , MD.) Dr. Patrick E. McCle ske y, MD.)
fungal infection that is less rare is Sporotrichosis and can occur Note that tinea infections will not show central clearing in some cases,
from minor trauma with a rosebush thorn . as in in which tinea cruris has no central clearing.
shows tinea cruris with central clearing.
Hyperpigmentation secondary to the fungal infection is common in
DIAGNO SIS dark-skinned individuals, as seen in on the ank of
this young woman. Note the hyperpigmentation is seen in the tinea
CLINICAL FEATURES corporis.
Clinical features of tinea infections include scaling, erythema, pruritus, Hypopigmentation is frequently seen in tinea versicolor
central clearing, concentric rings, and maceration ( ). ( ).
Changes in pigmentation are not uncommon in various types of tinea
especially tinea versicolor.
shows annular pruritic lesion with concentric
Literally found from head to toes:
rings in the axilla of a young woman caused by tinea corporis.
The concentric rings have a high speci city (80%) for tinea shows tinea capitis in a 5-year-old black girl with
infections. hair loss and an in ammatory response. Her kerion is healing after
shows tinea faciei on the face with typical scaling initiating oral griseofulvin.
and ring-like pattern, hence, the name ringworm. There is also ery- shows tinea pedis in a 14-year-old boy with
thema and central clearing. The patient was experiencing pruritus. onychomycosis.
TABLE 120-1 Diag nostic Value of Se le cte d Sig ns and Symp toms in Tine a Infe ction*
Sig n/ Symp t o m Se nsit ivit y (%) Sp e ci cit y (%) PV+ (%) PV– (%) LR+ LR–
Scaling 77 20 17 80 0.96 1.15
Erythe ma 69 31 18 83 1.00 1.00
Pruritus 54 40 16 80 0.90 1.15
Ce ntral cle aring 42 65 20 84 1.20 0.89
Conce ntric ring s 27 80 23 84 1.35 0.91
Mace ration 27 84 26 84 1.69 0.87
*Sig ns and symp toms we re comp ile d b y 27 g e ne ral p ractitione rs p rior to sub mission of skin for fung al culture . Sp e cime ns we re
take n from 148 conse cutive p atie nts with e rythe matosq uamous le sions of g lab rous skin. Culture re sults we re consid e re d the g old
stand ard ; le ve l of e vid e nce = 2b .
LR–, Ne g ative like lihood ratio; LR+ , p ositive like lihood ratio; PV–, ne g ative p re d ictive value ; PV+ , p ositive p re d ictive value .
Source : From J Fam Pract. 1999;48:611-615. Re p rod uce d with p e rmission from Frontline Me d ical Communications.
PART 14
690 CHAPTER 120
DERMATO LO GY
FIGURE 120-11 In ammatory tine a cruris in a te e nag e b oy on FIGURE 120-13 Making a KO H p re p aration b y scrap ing in are a of
iso tre tinoin for his acne . The annular e rup tion is d e e p re d . (Photo scale with two slid e s. This was a case of tine a p e d is. (Use d with p e rmis-
Cre d it: Dr. Patrick E. McCle ske y, MD.) sio n from Richard P. Usatine , MD.)
LABO RATO RY STUDIES KOH and a surfactant in the solution are very simple to use. These
Creating a KOH Prep: inexpensive stains come conveniently in small plastic squeeze bottles
that have a shelf life of 1 to 3 years. Two useful stains that can that
Scrape the leading edge of the lesion on to a slide using the side of make it easier to identify fungus are chlorazol black and Swartz-
another microscope slide or a # 15 scalpel ( ). For Lamkins stains. Swartz-Lamkins stain has a longer shelf life.
safety reasons with small moving children, it is best to use the 2
Examine with microscope starting with 10 power to look for the
slide method and avoid the scalpel.
cells and hyphae and then switch to 40 power when ready to con-
Use your coverslip to push the scale into the center of the slide. rm the ndings ( to ). The fungal stain
Add two drops of KOH (fungal stain with KOH is preferable) to helps the hyphae to stand out among the epithelial cells.
the slide and place coverslip on top. It helps to start with 10 power to nd the clumps of cells and look
Gently heat with ame from an alcohol lamp or lighter if the pieces of for groups of cells that appear to have fungal elements within them
collected skin are large, the sample was from a nail, or if you are using ( ).
plain KOH without dimethyl sulfoxide (DMSO). Avoid boiling. Do not be fooled by cell borders that look linear and branching.
DMSO acts as a surfactant that helps to break up the cell membranes True fungal morphology at 40 power should con rm the presence
of the epithelial cells without heating. Fungal stains that come with of real fungus and rule out artifact. The fungal stains bring out
FIGURE 120-12 Tine a corp oris on the rig ht ank a young woman FIGURE 120-14 Trichop hyton rub rum from tine a cruris visib le among
b e nd ing forward . Note the we ll-d e marcate d b ord e rs with multip le skin ce lls using lig ht microscop y at 10 p owe r and Swartz-Lamkins fung al
annular p atte rns and some p ostin ammatory hyp e rp ig me ntation. stain. Start your se arch on 10 p owe r and move to 40 p owe r to con rm
(Use d with p e rmission from Richard P. Usatine , MD.) your nd ing s. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 120-15 Trichop hyton rub rum from tine a cruris using Swartz- FIGURE 120-16 Arthro co nid ia visib le from tine a cruris using Swartz-
Lamkins fung al stain at 40 p owe r. Straig ht hyp hae with visib le se p tae . Lamkins fung al stain at 40 p owe r. (Use d with p e rmission from Richard P.
(Use d with p e rmission from Richard P. Usatine , MD.) Usatine , MD.)
these characteristics including cell walls, nuclei, and Arthroconidia

( to ). MANAGEMENT
KOH test characteristics1 (without fungal stains)—Sensitivity 77 to
There is a wide variety of topical antifungal medications ( ).
88 percent, speci city 62 to 95 percent ( ). The sensi-
A Cochrane systematic review of 70 trials of topical antifungals for
tivity and speci city should be higher with fungal stains and
tinea pedis showed good evidence for ef cacy compared to placebo2
increased experience of the person performing the test.
for:
Allylamines (nafti ne, terbina ne, butena ne).
O THER LABO RATO RY STUDIES
Azoles (clotrimazole, miconazole, econazole).
Fungal culture—Send skin scrapings, hair, or nail clippings to the
laboratory in a sterile container such as a urine cup. These will be Allylamines cure slightly more infections than azoles but are more
plated out on fungal agar and the laboratory can report the species expensive. 2
if positive. No differences in ef cacy found between individual topical allyl-
Biopsy specimens and nail clippings can be sent in formalin for peri- amines or individual azoles. 2 SO R
odic acid-Schiff (PAS) staining when KOH and fungal cultures seem Evidence for the management onychomycosis by topical treatments
to be falsely negative. is sparse. There is some evidence that ciclopiroxolamine and buten-
UV light (Woods lamp), looking for uorescence. The Microsporum a ne are both effective, but they both need to be applied daily for at
species are most likely to uoresce. However, the majority of least 1 year. 3
tinea infections are caused by Trichophyton species that do not Oral antifungals are needed for all tinea capitis infections and for
uoresce. more severe infections of the rest of the body. 4 True dermatophyte
TABLE 120-2 Diag nostic Value of Clinical Diag nosis and KO H Pre p in Tine a Infe ction
Te st Se nsit ivit y (%) Sp e ci cit y (%) PV+ (%) PV– (%) LR+ LR–
Clinical d iag nosis* 81 45 24 92 1.47 0.42
KO H p re p (stud y one )† 88 95 73 98 17.6 0.13
KO H p re p (stud y two)† 77 62 59 79 2.02 0.37
*The clinical d iag nosis se t was comp ile d b y 27 g e ne ral p ractitione rs p rior to sub mission of skin for fung al culture . Sp e cime ns we re
take n from conse cutive p atie nts with e rythrosquamous le sions. Culture re sults we re conside re d the g old stand ard ; study q uality = 2b .
†
Both stud ie s of KO H p re p s we re op e n analyse s of p atie nts with susp icious le sions. Paire d fung al culture was initiate d simultane ously
with KO H p re p and was consid e re d the g old stand ard ; stud y q uality = 2b .
LR–, Ne g ative like lihood ratio; LR+ , p ositive like lihood ratio; PV–, ne g ative p re d ictive value ; PV+ , p ositive p re d ictive value .
Source : From Thomas B. Cle ar choice s in manag ing e p id e rmal tine a infe ctions. J Fam Pract. 2003;52(11):850-862. Re p rod uce d with
p e rmission from Frontline Me d ical Communications.
PART 14
692 CHAPTER 120
DERMATO LO GY
Terbina ne is equal to itraconazole in patient outcomes. 5

No signi cant differences in comparisons between a number of
other oral agents. 5
Oral antifungals used for fungal infections of the skin, nails, or
mucous membranes:
Itraconazole (Sporanox).
Fluconazole (Di ucan).
Griseofulvin.
Ketoconazole (Nizoral).
Terbina ne (Lamisil).
One metaanalysis suggests that terbina ne is more ef cacious than
griseofulvin in treating tinea capitis caused by Trichophyton species,
whereas griseofulvin is more ef cacious than terbina ne in treating
tinea capitis caused by Microsporum species. 6 SO R
FIGURE 120-17 Trichop hyton rub rum from tine a cruris using chlorazol
b lack fung al stain at 40 p owe r. (Use d with p e rmission from Richard P.
Details of treatments for multiple types of fungal skin infections
Usatine , MD.) are supplied in Chapter 121–126.
infections that do not respond to topical antifungals may need an

PATIENT RESO URCES
oral agent.
Doctor fungus—www.doctorfungus.org/ .
A Cochrane systematic review of 12 trials of oral antifungals for
tinea pedis showed oral terbina ne for 2 weeks cures 52 percent
more patients than oral griseofulvin. 5 SO R
Fungal skin from New Zealand—www.dermnetnz.org/
TABLE 120-3 Top ical Antifung al Pre p arations
fungal/ .
Doctor fungus from the US—www.doctorfungus
Ge ne ric O TC
.org/ .
Name Brand Name o r Rx Class
World of dermatophytes from Canada—www.provlab
Bute na ne Me ntax Rx Allylamine .ab.ca/ mycol/ tutorials/ derm/ dermhome.htm.
Lotrimin Ultra O TC
Swartz Lamkins fungal stain can be easily purchased online at—
Ciclop irox Lop rox Rx Pyrid one www.delasco.com/ pcat/ 1/ Chemicals/ Swartz_
.
Clotrimazole Lotrimin AF Cre am O TC Azole
Lotrimin AF Sp ray
Econazole Sp e ctazole Rx Azole
REFERENCES
Ke toconazole Nizoral 2% Rx Azole 1. Thomas B. Clear choices in managing epidermal tinea infections.
Miconazole Micatin O TC Azole J Fam Pract. 2003;52:850-862.
Ge ne ric 2. Crawford F, Hart R, Bell-Syer S, et al. Topical treatments for fungal
Nafti ne Naftin Rx Allylamine infections of the skin and nails of the foot. Cochrane Database Syst
Rev. 2000;(2):CD001434.
O xiconazole O xistat Rx Azole 3. Crawford F, Hollis S. Topical treatments for fungal infections of
Se rtaconazole Ertaczo Rx Azole the skin and nails of the foot. Cochrane Database Syst Rev. 2007;(3):
CD001434.
Te rb ina ne Lamisil AT O TC Allylamine
4. Gonzalez U, Seaton T, Bergus G, et al. Systemic antifungal
Tolnaftate * Tinactin cre am O TC Misce lla- therapy for tinea capitis in children. Cochrane Database Syst Rev.
Lamisil AF d e fe nse ne ous 2007;(4):CD004685.
and Tinactin
5. Bell-Syer SE, Hart R, Crawford F, et al. Oral treatments for
p owd e r sp ray
fungal infections of the skin of the foot. Cochrane Database Syst Rev.
Ge ne ric cre am
2002;(2):CD003584.
*All the above antifungals will treat dermatophytes and Candida. 6. Tey HL, Tan AS, Chan YC. Meta-analysis of randomized,
Tolnaftate is e ffe ctive only for d e rmatop hyte s and not Cand id a. controlled trials comparing griseofulvin and terbina ne in
Nystatin is effective only for Candida and not the dermatophytes. the treatment of tinea capitis. J Am Acad Dermatol. 2011;64:
O TC, ove r-the -counte r. 663-670.
PART 14
CANDIDIASIS 693
DERMATO LO GY
121 CANDIDIASIS
PATIENT STO RY
A 2-month-old infant is being seen for a diaper rash and the

pediatrician notes that the tongue and mouth are covered in white
( ). A diagnosis of thrush and Candida diaper dermatitis
is made. The child is treated with oral nystatin for the mouth and
topical clotrimazole for the diaper dermatitis.
INTRO DUCTIO N
FIGURE 12 1-2 Cand id a d iap e r d e rmatitis in an o the rwise he althy
Cutaneous and mucosal Candida infections are seen commonly in infant. Note the satellite lesions and the p ink color. (Used with permission
infants with thrush and diaper rash ( ). Also children and from Richard P. Usatine , MD.)
teens with obesity, diabetes, and/ or immunode ciency are at higher
risk of developing Candida infections.
Candida thrush is not uncommon in healthy infants ( ).

SYNO NYMS
Candidemia is a major source of morbidity and mortality in neona-
Thrush. tal intensive care units (NICU). 1 This chapter focuses on cutaneous
Candida infections only.
EPIDEMIO LO GY
Candida superinfected diaper dermatitis is highly prevalent in
healthy infants ( and ). Cutaneous infections caused by Candida species are primarily Can-
dida albicans.
C. parapsilosis and C. albicans infections are the most frequent causes
of candidemia in the NICU. 1
C. albicans has the ability to exist in both hyphal and yeast forms
(termed dimorphism). If pinched cells do not separate, a chain of
cells is produced and is termed pseudohyphae. 2
RISK FACTO RS
Infancy, prematurity, hospitalization, being in the NICU, obesity,

diabetes, immunode ciency, HIV, use of oral antibiotics, and use of
inhaled or systemic steroids.
DIAGNO SIS
CLINICAL FEATURES
Ask about recent antibiotic or steroid use in the history.
Typical distribution—Diaper area ( ), glans penis,
vulva, inframammary ( ), under abdominal pannus,
between ngers, in the creases of the neck, and in the corners of
mouth in angular cheilitis.
FIGURE 121-1 Thrush in an othe rwise he althy infant. (Use d with Morphology on the skin—Macules, patches, plaques that are pink
p e rmission from Richard P. Usatine , MD.) to bright red with small peripheral satellite lesions ( ).
PART 14
694 CHAPTER 121
DERMATO LO GY
FIGURE 121-5 Cand id a b alanitis in an uncircumcise d young man.

Te e ns
Candida balanitis is more common in uncircumcised males than in
those that have been circumcised ( ). It presents with
penile pruritus and a white discharge under the foreskin.
Candida vaginitis presents with pruritus and a white discharge
( ). Trichomonas can also present in the same manner so
a wet mount is needed to determine the correct diagnosis.
FIGURE 121-3 Cand id a d iap e r d e rmatitis afte r a course of antib iotics
for otitis me d ia. Note how the d e rmatitis has sp re ad up the ab d ome n
b ut follows the d iap e r d istrib ution. The re are visib le sate llite le sions.
(Use d with p e rmission from the Cle ve land Clinic Child re n’s Hosp ital
Photo File s.)
Physical exam—Thrush appears as a white coating (velvety or cot-
tage cheese like) on the oral mucosa including the tongue, palate,
and buccal mucosa ( ). Thrush will not be as easy to
remove from the buccal mucosa and tongue as breast milk or for-
mula. A gauze-covered nger can be used to test this out. If the
white coating does come off and there is red friable tissue below, it
is most likely thrush.
FIGURE 121-4 Cand id a und e r the b re asts of an ob e se young woman.

The b ord e r is not we ll-d e marcate d and the re are sate llite le sions. FIGURE 121-6 Cand id a vulvovag initis in a young woman. (Use d with
(Use d with p e rmission from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
PART 14
CANDIDIASIS 695
DERMATO LO GY
vehicle control for treatment of diaper dermatitis complicated

by candidiasis. 4
Do not use tolnaftate, which is active against dermatophytes but
not Candida.
If recurrent or recalcitrant, consider oral uconazole.
O RO PHARYNGEAL CANDIDIASIS
Treat initial episodes with oral nystatin suspension. 3 SO R
Oral uconazole is as effective as—and, in some studies, superior
to—topical therapy. 3 SO R
Itraconazole solution is as effective as uconazole. 3 SO R
Ketoconazole and itraconazole capsules are less effective than
uconazole, because of variable absorption. 3 SO R
HIV/ AIDS patients with oral candidiasis may be treated with
clotrimazole troches (when old enough to use these safely) or oral
FIGURE 121-7 The b ranching p se ud ohyp hae and b ud d ing ye ast of uconazole. 3 SO R
Cand id a und e r hig h p owe r. (Use d with p e rmission from Richard P.
Usatine , MD.)
CHRO NIC MUCO CUTANEO US CANDIDIASIS
LABO RATO RY STUDIES Chronic mucocutaneous candidiasis ( ) is a spectrum
of disorders in which the patients have persistent and/ or recurrent
Scrape involved area and add to a slide with KOH (DMSO optional). candidiasis of the skin, nails and mucous membranes. The patient’s
C. albicans exist in both hyphal and yeast forms (dimorphism). Look T-cells fail to produce cytokines that are essential for expression of
for pseudohyphae and/ or budding yeast ( ). cell-mediated immunity to Candida. 5
Chronic mucocutaneous candidiasis requires a long-term approach
DIFFERENTIAL DIAGNO SIS that is analogous to that used in patients with AIDS. 3
Systemic therapy is needed, and azole antifungal agents (ketocon-
Intertrigo is a nonspeci c in ammatory condition of the skin folds. azole, uconazole, and itraconazole) have been used successfully. 3
It is induced or aggravated by heat, moisture, maceration, and
Treatments that restore cellular immunity have produced long
friction. The condition frequently is worsened by infection with
term remissions. 5
Candida or dermatophytes ( ).
Tinea corporis or cruris—Can be distinguished from Candida
when you see an annular pattern or concentric circles in the tinea. PRO GNO SIS
Typically there is no scrotal involvement in tinea cruris. Candida
intertrigo may have scrotal involvement (see Chapters 123, Tinea Prognosis is based upon the type of Candida infection and the
Corporis and 124, Tinea Cruris). immune status of the host. Healthy infants with thrush and/ or
Erythrasma—Occurs in the inguinal area and axillae. It may be
pink or brown and glows a coral red with UV light (see Chapter
102, Erythrasma).
Seborrhea—In ammation related to overgrowth of Pityrosporum,
a yeast-like organism (see Chapter 135, Seborrheic Dermatitis).
For a full discussion of the differential diagnosis of diaper dermatitis,
see Chapter 95, Diaper Rash and Perianal Dermatitis.
MANAGEMENT
PRIMARY CANDIDAL SKIN INFECTIO NS

Topical azoles, including clotrimazole, miconazole, and nystatin
(polyenes), are effective. 4 SO R
Keeping the infected area of the skin dry is important. 3 SO R
For more details of the topical antifungals, see in
Chapter 120, Fungal Overview. FIGURE 121-8 Chronic mucocutane ous cand id iasis. This young man
has had p e rsiste nt cand id iasis of his skin, nails and mucous me mb rane s
In one study, miconazole ointment was well tolerated and since child hood d ue to a failure of his T-ce ll immunity. (Use d with p e r-
signi cantly more effective than the zinc oxide/ petrolatum mission from Richard P. Usatine , MD.)
PART 14
696 CHAPTER 121
DERMATO LO GY
Candida diaper dermatitis have an excellent prognosis for full REFERENCES

recovery. 1. Spiliopoulou A, Dimitriou G, Jelastopulu E, Giannakopoulos I,
Anastassiou ED, Christo dou M. Neonatal intensive care unit
PATIENT EDUCATIO N candidemia: epidemiology, risk factors, outcome, and critical
review of published case series. Mycopathologia. 2012;173(4):
219-228.
For skin infections, keep the infected area clean and dry. For thrush
in a baby, treat sources of infection such as the mother’s breasts and 2. Scheinfeld N. Cutaneous Candidiasis. http:// emedicine.medscape.
bottle nipples. If the baby is bottle fed, boil the nipples between uses. com/ article/ 1090632, accessed May 27, 2013.
3. Pappas PG, Rex JH, Sobel JD, et al. Guidelines for treatment of
PATIENT RESO URCES candidiasis. Clin Infect Dis. 2004;38:161-189.
. 4. Spraker MK, Gisoldi EM, Siegfried EC, et al. Topical miconazole
nitrate ointment in the treatment of diaper dermatitis complicated
by candidiasis. Cutis. 2006;77(2):113-120.
.
5. Kirkpatrick CH. Chronic mucocutaneous candidiasis. Pediatr Infect
Dis J. 2001;20(2):197-206.
Pediatric Candidiasis—
.
Cutaneous Candidiasis—
.
Intertrigo—
.
PART 14
TINEA CAPITIS 697
DERMATO LO GY
122 TINEA CAPITIS

Cong jun Yao, MD
PATIENT STO RY
An 11-year-old boy has a history of 2 months of progressive patchy

hair loss ( ). He has some itching of the scalp but his
mother is worried about his hair loss. Physical examination reveals
alopecia with scaling of the scalp and broken hairs looking like black
dots in the areas of hair loss. A KOH preparation is created by scrap-
ing an area of alopecia onto a slide. A few loose hairs are added to the
slide before the KOH and cover slip are placed. Fungal elements are
seen under the microscope. After 6 weeks of griseofulvin, the tinea FIGURE 1 2 2-2 Tine a cap itis with p atchy hair lo ss and scaling o f the
scalp in a yo ung b o y. (Use d with p e rmission fro m Richard P. Usatine ,
capitis is fully resolved. MD.)
INTRO DUCTIO N SYNO NYMS
Tinea capitis is a fungal infection involving the scalp and hair. It is Ringworm of the scalp.
the most common type of dermatophytoses in children younger than
10 years of age. Common signs include hair loss, scaling, erythema,
and impetigo-like plaques. EPIDEMIO LO GY
Tinea capitis is more common in young, black boys as it has a

preference for the follicles of short curly hairs.
Tinea capitis is the most common type of dermatophytoses in chil-
dren younger than 10 years ( to ). It rarely
occurs after puberty or in adults. 1 The infection has a worldwide
distribution.
Combs, brushes, couches, and sheets may harbor the live dermato-
phyte for a long period of time.
Spread from person to person with direct contact or through fomites.
Occasionally spread from cats and dogs to humans.
FIGURE 122-3 A ke rion re sulting from in ammation of the tine a cap i-

FIGURE 122-1 Tine a cap itis in a young b lack b oy. The most like ly tis on this young b o y. The ke rion looks sup e rinfe cte d b ut it is nothing
org anism is Tricho p hyton to nsurans. (Use d with p e rmission from more than an e xub e rant in ammatory re sp onse to the d e rmatop hyte .
Richard P. Usatine , MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
698 CHAPTER 122
DERMATO LO GY
associated with black dot alopecia. Microsporum canis is less common

now than decades ago. M. canis is still highly prevalent in developing
countries. The natural reservoir of M. canis is dogs and cats.
RISK FACTO RS
Lack of access to clean water and soap.

Poverty and living in rural areas.
African descent as the dermatophytes grow well in the follicles of
short curly hairs.
Crowded living arrangements in which infected individuals spread
the tinea to others.
Sharing combs, brushes, and hair ornaments.
FIGURE 122-4 Close -up of b lack d ot alop e cia in a 7-ye ar-old g irl DIAGNO SIS
showing the b lack d ots whe re infe cte d hairs have b roke n off. (Use d
The clinical appearance is often adequate to make the diagnosis.
Con rm the diagnosis by scraping the scaling areas on the scalp and
ETIO LO GY AND PATHO PHYSIO LO GY placing a few loose hairs on a microscope slide with KOH. (DMSO and
a fungal stain will help.) Look for hyphae and spores ( ).
Tinea capitis is a super cial fungal infection affecting hair shafts and Look for endoectothrix invasion of the hair shaft with fungus.
follicles on the scalp but could involve the eyebrows and eyelashes.
CLINICAL FEATURES
Caused by Trichophyton and Microsporum dermatophytes. The most
common organism in the US is Trichophyton tonsurans, which is Alopecia and scaling of the scalp ( and ).
A kerion occurs when there is an in ammatory response to the tinea.
The scalp gets red, swollen, and boggy. There may be serosanguineous
discharge and some crusting as this dries ( ).
FIGURE 122-5 Lymp had e nop athy visib le in the ne ck of this young b o y
with tine a cap itis. The fung al infe ction shows mo re scaling and crusting
than actual hair loss. The lymp had e nop athy is a re actio n to the tine a
and not a b acte rial sup e rinfe ction. (Use d with p e rmission from Richard FIGURE 122-6 Tine a cap itis with an annular con g uration. (Use d with
P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
PART 14
TINEA CAPITIS 699
DERMATO LO GY
KOH preparation—Scrape the scale and infected hairs using a # 15

blade. Then use KOH or a fungal stain to dissolve the keratin. Use the
microscope to look for septate, branching hyphae under 10 and 40
power ( ). The hyphae of Microsporum may also be found
on the exterior of the hair (exothrix) while the hyphae of Trichophyton
is found in the interior of the hair (endothrix) ( ).
If the diagnosis is uncertain, send a few loose hairs and a scraping of
the scalp scale for a fungal culture.
You may look at the scalp with a UV light (Woods lamp), looking
for uorescence, but the yield is low. Only the Microsporum species
will uoresce ( ) and this organism is the involved
dermatophyte less than 30 percent of the time.

FIGURE 122-7 Trichop hyton tonsurans from tine a cap itis visib le Alopecia areata—Produces areas of hair loss with no scaling,
among skin ce lls at 40 p owe r afte r ad d ing Swartz-Lamkins fung al stain.
(Use d with p e rmission from Richard P. Usatine , MD.) in ammation, or scarring in the underlying scalp. It is an autoim-
mune process in which the immune system attacks the person’s
own hair follicles (see Chapter 158, Alopecia Areata).
There may be broken hairs that look like black dots in the areas of Seborrhea of the scalp (dandruff)—is caused by the Pityrosporum
hair loss ( ). yeast, resulting in scaling and in ammation but rarely causing hair
Cervical lymphadenopathy is common from the tinea capitis loss. The scalp involvement tends to be more widespread than
( ). patchy and localized as seen in tinea capitis (see Chapter 135,
Tinea capitis can even be annular and have the rings of ringworm Seborrheic Dermatitis).
( ). Scalp psoriasis—Rarely causes alopecia. There are mild cases with
slight, ne scaling on the scalp, or severe cases with silvery, thick,
TYPICAL DISTRIBUTIO N crusted plaques covering the majority of the scalp. Often psoriatic
By de nition it occurs on the head, but usually is found on the scalp. plaques are seen elsewhere on the body and nail changes are visible.
Rarely involves the eyebrows and eyelashes. Trichotillomania—Self-in icted alopecia caused when the patient
pulls and twists her/ his own hair (see Chapter 159, Traction
LABO RATO RY STUDIES Alopecia and a Trichotillomania).
Whenever possible it is very important to con rm or dispel ones’ Traction alopecia—Alopecia that occurs when the patient or parent
clinical suspicion with mycologic evidence before starting weeks of pulls the hair to style it into braids or ponytails. There should be no
oral antifungal medicines. scaling of the scalp (unless there is coexisting seborrhea) and the
A B
FIGURE 122-8 A. M. canis showing hyp hae on the e xte rior of the hair (e xothrix) at 40 p owe r e xp laining why this typ e of tine a uore sce s. (Use d with
p e rmission from Eric Kraus, MD.) B. T. tonsurans showing hyp hae in the inte rior of the hair (e nd othrix) at 40 p owe r afte r ad d ing Swartz-Lamkins
fung al stain. This typ e of tine a cap itis d oe s not uore sce b e cause the fung us is insid e the hair. (Photo Cre d it: Dr. Patrick E. McCle ske y, MD.)
PART 14
700 CHAPTER 122
DERMATO LO GY
A B
FIGURE 122-9 A. Tine a cap itis in a young b oy. B. Fluore sce nce with an ultraviole t lig ht ind icating that this is a Microsp orum sp e cie s causing the
tine a cap itis. (Use d with p e rmission from Je ff Me ffe rt, MD.)
pattern of hair loss should match the hairstyle ( ) stronger per mg than the microsize, but do not come in liquid form.
(see Chapter 159, Traction Alopecia and Trichotillomania). The tablets are less expensive than the liquids and can be used for
children that can swallow a pill. The standard course should be 6 to
12 weeks for tinea capitis to deal with increasing resistance patterns.
MANAGEMENT Expert opinion in a recent article suggests that griseofulvin micro-
size should be given at at a dose of 20 to 25 mg/ kg per day for 2 to
Topical antifungal therapy is not adequate and oral treatment is 3 months along with adjunctive shampooing with 2.5 percent sele-
needed. nium sul de. 6 SO R
Griseofulvin remains the treatment of choice for tinea capitis even A 2- to 4-week course of terbina ne, uconazole, and itraconazole
if it requires a somewhat longer course than the newer antifungal are at least as effective as a 6- to 8-week course of griseofulvin for
agents. 2–5 SO R the treatment of Trichophyton infections of the scalp.
Griseofulvin is available in a liquid form for children and often A number of RCTs of oral terbina ne (doses ranging from 3 to 8 mg/
covered by insurance. Prescribe a 6- to 8-week course or longer kg/ day and durations of treatment from 2 to 4 weeks) have shown
(12-week course) of griseofulvin for tinea capitis. SO R faster and higher cure rates when compared to griseofulvin for treat-
Griseofulvin is available in many forms, including liquid (125 mg ment of inner city tinea capitis caused by Trichophyton tonsurans.6–10
microsize/ 5 cc) for children. Taking the drug with fatty food SOR
increases absorption and aids bioavailability. The dose for microsize Griseofulvin is likely to be superior to terbina ne for the rare
griseofulvin is 20 mg/ kg per day and ultramicrosize griseofulvin cases caused by Microsporum species and in ammatory Trichophy-
tablets is 5 to 15 mg/ kg per day. Ultramicrosize preparations are ton species. 10,11
Terbina ne is effective and offers a shorter course of therapy than
griseofulvin. It is not available in liquid form. Recommended dos-
age for 10- to 20-kg children is 62.5 mg/ day; for 20- to 40-kg chil-
dren, 125 mg daily; and for children who weigh more than 40 kg,
250 mg daily. Treatment duration for Trichophyton is 2 to 4 weeks;
it is 8 to 12 weeks for Microsporum infection.
Fluconazole is available in liquid form and appears to be effective
and safe to treat cutaneous fungal infections. Recommended dosage
is 5 to 6 mg/ kg per day. Treatment duration for Trichophyton is 3 to
6 weeks; 8 to 12 weeks for Microsporum infection.
Itraconazole is also available in liquid form. The recommended
dose is 3 mg/ kg per day for liquid form. For capsules: 5 mg/ kg per
day. Treatment duration is 2 to 6 weeks.
None of these agents require laboratory monitoring at the recom-
mended lengths of treatment for tinea capitis. 1
FIGURE 122-10 Traction alop e cia that is re late d to the tig ht b raid s A kerion may resolve with oral antifungal treatment alone. If it is
that p ut p re ssure on the hair follicle . The slig ht scaling was cause d b y
se b orrhe a b ut tine a cap itis must b e in the d iffe re ntial d iag nosis. (Use d severe and painful, consider a short pulse of oral steroids to speed
with p e rmission from Richard P. Usatine , MD.) up resolution ( ). SO R
PART 14
TINEA CAPITIS 701
DERMATO LO GY
PREVENTIO N
Family members or playmates should be screened and asymptomatic

carriers should be treated. Close physical contact and sharing of toys
or combs/ hairbrushes should be avoided. 14 SO R
PRO GNO SIS
Severe hair loss and scarring alopecia can occur if tinea capitis is left
untreated.
PATIENT EDUCATIO N
Patients and parents need to exercise care to avoid spreading the

infection to others. Explain the importance of not sharing combs,
brushes, and towels.
FIGURE 122-11 A ke rion in a 5-ye ar-old g irl infe cte d with Trichop hy- FO LLO W-UP
ton rub rum. (Use d with p e rmission from Eric Kraus, MD.)
Follow-up may be scheduled to check for full resolution of the infec-
tion by negative culture or hair regrowth.
Although oral therapy is still the recommended treatment for tinea
capitis, topical treatment can be used as adjuvant therapy: 1 to 2.5
PATIENT RESO URCE
percent selenium sul de, 1 percent ciclopirox, or 2 percent keto-
conazole shampoo should be applied to the scalp and hair for 5 min- Medline Plus article for patients—www.nlm.nih.gov/
utes 2 or 3 times a week for 8 weeks. 12-13 SOR Shampoos with .
selenium sul de or ciclopirox have been shown to be of equal
ef cacy.13 SO R PRO VIDER RESO URCE
Another use for antifungal shampoo is empirical treatment while .
waiting for a culture to come back in an equivocal case. Topical
antifungal shampoo may decrease the spread of the tinea in
crowded living environments while waiting for the oral therapy to REFERENCES
work ( ). SO R
1. Johnston KL, Chambliss ML, DeSpain J. Clinical inquiries. What
is the best oral antifungal medication for tinea capitis? J Fam Pract.
2001;50:206-207.
2. Tey HL, Tan AS, ChanYC. Meta-analysis of randomized, con-
trolled trials comparing griseofulvin and terbina ne in the treat-
ment of tinea capitis. J Am Acad Dermatol. 2011;64(4):663-670.
3. Gupta AK, Cooper EA, Bowen JE. Meta-analysis: griseofulvin ef-
cacy in the treatment of tinea capitis. J Drugs Dermatol.
2008;7(4):369-372.
4. González U, Seaton T, Bergus G, et al. Systemic antifungal therapy
for tinea capitis in children. Cochrane Database Syst Rev.
2007;(4):CD004685.
5. Kakourou T, Uksal U. European Society for Pediatric Dermatol-
ogy. Guidelines for the management of tinea capitis in children.
Pediatr Dermatol. 2010;27(3):226-228.
6. Pride HB, Tollefson M, Silverman R. What’s new in pediatric der-
matology?: Part II. Treatment. J Am Acad Dermatol.
FIGURE 122-12 Tine a cap itis in a schoolb oy in Panama. Many of 2013;68(6):899.e1-899.e11.
his classmate s also had tine a cap itis. An antifung al shamp oo was
p re scrib e d for the child re n while waiting to ob tain the ne e d e d syste mic 7. Elewski BE, Cáceres HW, DeLeon L, El Shimy S, Hunter JA,
antifung al ag e nt. (Use d with p e rmission from Richard P. Usatine , MD.) Korotkiy N, et al. Terbina ne hydrochloride oral granules versus
PART 14
702 CHAPTER 122
DERMATO LO GY
oral griseofulvin suspension in children with tinea capitis: results 11. Grover C, Arora P, ManchandaV. Comparative evaluation of gris-
of two randomized, investigator-blinded, multicenter, interna- eofulvin, terbina ne and uconazole in the treatment of tinea
tional, controlled trials. J Am Acad Dermatol. 2008;59:41-54. capitis. Int J Dermatol. 2012;51:455-458.
8. Friedlander SF, Aly R, Krafchik B, Blumer J, Honig P, Stewart D, 12. Greer DL. Successful treatment of tinea capitis with 2% ketocon-
et al. Terbina ne in the treatment of Trichophyton tinea capitis: a azole shampoo. Int J Dermatol. 2000;39(4):302-304.
randomized, double-blind, parallel-group, duration- nding study. 13. Chen C, Koch LH, Dice JE, et al. A randomized, double-blind
Pediatrics. 2002;109:602-607. study comparing the ef cacy of selenium sul de shampoo 1% and
9. Deng S, Hu H, Abliz P, Wan Z, Wang A, ChengW, et al. A random ciclopirox shampoo 1% as adjunctive treatments for tinea capitis
comparative study of terbina ne versus griseofulvin in patients with in children. Pediatr Dermatol. 2010;27(5):459-462.
tinea capitis in western china. Mycopathologia. 2011;172:365-372. 14. Higgins EM, Fuller LC, Smith CH. Guidelines for the manage-
10. Gupta AK, Drummond-Main C. Meta-analysis of randomized, ment of tinea capitis. British Association of Dermatologists.
controlled trials comparing particular doses of griseofulvin and Br J Dermatol. 2000;143(1):53-58.
terbina ne for the treatment of tinea capitis. Pediatr Dermatol.
2013;30:1-6.
PART 14
TINEA CO RPO RIS 703
DERMATO LO GY
123 TINEA CO RPO RIS -
Ad e liza Jime ne z, MD
PATIENT STO RY Trichophyton Microsporum

Epidermophyton T. rubrum
Figure 123-1
Microsporum
RISK FACTO RS
INTRO DUCTIO N
EPIDEMIO LO GY DIAGNO SIS
-
Trichophyton rubrum
CLINICAL FEATURES
Figure 123-1
Figure 123-2
-
Figure 123-3
Figures 123-4
Figures 123-5
123-6
FIGURE 123-1 Tinea corporis on the should e r of this young g irl. This is
a very typical annular p atte rn and the cat on a sweatshirt mig ht b e a clue Figure 123-7
to an infe cte d p e t at home sp re ad ing a Microsp orum d e rmatop hyte to
the young g irl. Note the conce ntric ring s with scaling , e rythe ma, and
ce ntral sp aring . (Use d with p e rmission from Richard P. Usatine , MD.) Figures 123-5 123-7
PART 14
704 CHAPTER 123
DERMATO LO GY
FIGURE 123-2 Tine a facie i in a young g irl. The re is no ce ntral cle aring
o r annular p atte rn he re b ut the KO H p re p aratio n was p o sitive fo r
b ranching hyp hae . It re so lve d with a to p ical antifung al me d icine .
(Use d with p e rmissio n from Richard P. Usatine , MD.)
FIGURE 123-4 Tine a corp oris with classic scaling ring s on the arm and
face of this young girl. (Used with permission from Richard P. Usatine, MD.)
Figure 123-9
Figure 123-8
FIGURE 123-5 Tine a incog nito on the arm with conce ntric ring s as
FIGURE 123-3 Tine a corp oris with p ustule s and scale . KO H p re p ara- this d e rmatop hyte infe ction co ntinue d to g ro w und e r the in ue nce of
tion was p ositive for b ranching hyp hae . The p ustule s are a manife sta- the top ical ste roid s mistake nly g ive n to he r b y he r p hysician. The re is
tion of an in ammatory re sp o nse to the d e rmatop hyte infe ction. (Use d an e xte nsive amount of p ostin ammatory hyp e rp ig me ntation. (Use d
with p e rmission from Richard P. Usatine , MD.) with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 123-8 Branching hyp hae at 40× hig h p owe r from KO H p re p a-

ration o f tine a corp oris. (Use d with p e rmission from Richard P. Usatine ,
MD.)
FIGURE 123-6 Tine a incog nito in the axillary re g ion of a young man
who was p re scrib e d top ical ste roid s. Althoug h the re is so me hyp e rp ig -
me ntation, e rythe ma is most p romine nt. (Use d with p e rmission from
Chris We nne r, MD.)
Figure 123-10
FIGURE 123-9 Branching hyp hae e asily se e n at 40× hig h p owe r using
fung al stain (Swartz-Lamkins) from a scrap ing of tine a corp oris. Note
FIGURE 123-7 Tine a co rp oris cove ring the b ack and showing we ll- how the hyp hae stand out with the b lue ink color. (Use d with p e rmission
demarcated borders. (Used with permission from Richard P. Usatine, MD.) from Richard P. Usatine , MD.)
PART 14
706 CHAPTER 123
DERMATO LO GY
FIGURE 123-12 Tine a facie i ne ar the e ye b row of this infant. (Use d

MANAGEMENT
Figures 123-12 123-13

FIGURE 123-10 Granuloma annulare p rod ucing an annular le sion on
the d o rsum of the foot of this 3-ye ar-old b oy. No scale is visib le . (Use d
-
Figure 123-11 SO R
-
SOR
FIGURE 123-11 Annular le sions cause d b y p soriasis. Not all le sions FIGURE 123-13 Tine a corp oris p rod ucing an op e n ring ne ar the waist
that are annular with scale are tine a corp oris. (Use d with p e rmissio n of this 10-ye ar-old b oy. Note the e rythe ma and scale along with ce ntral
from Richard P. Usatine , MD.) cle aring . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
TABLE 123-1 Dosing of Te rb ina ne By We ig ht for Tine a Corp oris

(for Child re n >2 Ye ars of Ag e ) FO LLO W-UP
We ig ht in kg Te rb ina ne oral d ose in mg – g ive
for 2 we e ks once d aily -
< 20 kg 62.5 mg (1/4 of 250 mg tab le t)
20–40 kg 125 mg (1/2 of 250 mg tab le t)
> 40 kg 250 mg PATIENT EDUCATIO N
Figures 123-6 123-7 PATIENT RESO URCES

-
Figure 123-5 Ringworm www.visualdxhealth.com/
- adult/ tineaCorporis.htm
www.nlm.nih.gov/
- medlineplus/ ency/ article/ 000877.htm

SO R www.emedicine.com/ DERM/
topic421.htm
www.doctorfungus.org/
www.delasco.com/ pcat/ 1/ Chemicals/ Swartz_

SOR
Lamkins/ dlmis023/
~ SOR - REFERENCES
J Fam Pract.
Table 123-1 Cochrane Database Syst Rev.

~
SO R
PREVENTIO N Mycoses.
-
Cutis.
- -
-
- Mycoses.
-
. J Med Assoc Thai.
-
Dermatol Clin.
J Athl Train.
PART 14
708 CHAPTER 124
DERMATO LO GY
124 TINEA CRURIS

PATIENT STO RY
(Figure 124-1
phyte was highly visible under the microscope (Figure 124-2

clinician diagnosed tinea cruris. She was offered a choice between an
oral or topical antifungal medicine and she preferred to have the sys
FIGURE 124-2 Microscop ic vie w of the scrap ing of the g roin in a
p atie nt with tine a cruris. The hyp hae are e asy to se e und e r 40-p owe r
daily and her tinea cruris resolved. with Swartz-Lamkins stain. (Use d with p e rmission from Richard P.
Usatine , MD.)
INTRO DUCTIO N
(NHAMCS) (1995–2004), there were more than 4 million annual
visits for dermatophytoses and 8.4 percent were for tinea cruris. 1
and rare in children. However, it may be seen in teens after

SYNO NYMS puberty.
EPIDEMIO LO GY Trichophyton rubrum,

Epidermophyton occosum, Trichophyton mentagrophytes, and Trichophy-
ton verrucosum. T. rubrum is the most common organism. 2
and the National Hospital Ambulatory Medical Care Survey
corni ed cell layer of the epidermis. 2
RISK FACTO RS
been suggested; however, in a study of Italian soldiers, none of the
dance) were signi cantly associated with any fungal infection. 3

4
DIAGNO SIS
CLINICAL FEATURES
FIGURE 124-1 A 17-ye ar-old woman with tine a cruris showing e ry-
the ma and scale in an annular p atte rn. Ce ntral cle aring is le ss common
in tine a cruris than tine a corp oris b ut can occur. (Use d with p e rmission
PART 14
TINEA CRURIS 709
DERMATO LO GY
FIGURE 124-3 A woman with tine a cruris showing e rythe ma and FIGURE 124-5 Tine a incog nito with conce ntric ring s within the scaling
scale . This p atie nt had tine a o n he r fe e t, face , and und e r he r b re asts. p laq ue s. The orig inal tine a cruris was misd iag nose d and the p atie nt
(Use d with p e rmission from Richard P. Usatine , MD.) was g ive n top ical ste roid s for the itching . (Use d with p e rmission from
(see Figure 124-4) LABO RATO RY STUDIES

sparing with an annular pattern as in Figure 124-1, but most often is
homogeneously distributed as in Figures 124-3 and 124-4. If the
tinea cruris was missed and the patient was given topical steroids to microscope can be helpful (Figure 124-2). False negatives may
treat the itching, the tinea cruris can become tinea incognito and the occur if scraping is inadequate, patient is using topical antifungals,
Figure 124-5
nito often shows concentric rings within the scaling plaques.
By de nition tinea cruris is in the inguinal area. However, the fungus
erythrasma (see Chapter 102, Erythrasma). Most tinea cruris is
can grow outside of this area to involve the abdomen and thighs
caused by T. rubrum
locations simultaneously including the feet.
Candida in the groin can become red and have scaling
involve the scrotum. Candida often has satellite lesions. However,

tinea cruris can also have a few satellite lesions (see Chapter 120,
Candidiasis).
Figure 124-6) (see Chapter 102, Erythrasma).
Contact Dermatitis).
Inverse psoriasis may be misdiagnosed as a fungal infection until
FIGURE 124-4 Tine a cruris that has e xp and e d b e yond the ing uinal (Figure 124-7; see Chapter 136, Psoriasis).
are a in this young b lack man. Postin ammatory hyp e rp ig me ntation
is visib le thro ug hout the infe cte d are a. (Use d with p e rmission from
Richard P. Usatine , MD.) or aggravated by heat, moisture, maceration, and friction. 5
PART 14
710 CHAPTER 124
DERMATO LO GY
FIGURE 124-6 Erythrasma in the g roin can b e mistake n for tine a cru-
ris. This e rythrasma uore sce d coral re d with an ultraviole t lig ht. (Use d
condition frequently is worsened by infection with Candida or

dermatophytes so there is some overlap with tinea cruris.
MANAGEMENT
FIGURE 124-8 Tine a cruris in this te e nag e b oy. (Use d with p e rmission
Figure 124-8) is best treated with a topical from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
SO R , based on multiple
6
Differences in current
comparison data are insuf cient to stratify the two groups of topical
antifungals. 7
(allylamine derivative) are a more costly group of topical tinea

treatments, yet they are more convenient as they allow for a
6–8 SO R
effective in the treatment of tinea cruris in adults. 9 SO R

could be applied to teens as well.
similarly effective, equally well tolerated, and at least as safe as
10 SO R
in adults this could be applied to teens.
tinea cruris were randomly allocated to receive either 250 mg of

oral terbina ne once daily or 500 mg of griseofulvin once daily for
11
SO R
FIGURE 124-7 Inve rse p soriasis in a man who also has the nail chang e s
of p soriasis. (Use d with p e rmission from Richard P. Usatine , MD.) ers if topical treatment fails. SO R
PART 14
TINEA CRURIS 711
DERMATO LO GY
Int J Dermatol.
of infection simultaneously to prevent reinfection of the groin
from other body sites. If the tinea is widespread as in the patient Tinea Cruris
in Figure 124-3, an oral agent is warranted.
2012.
FO LLO W-UP
As needed. cadets. Dermatology.
Cutis.
PATIENT EDUCATIO N
Intertrigo
undershorts to reduce the possibility of direct contamination. SOR

SO R
J Am
PATIENT RESO URCES Acad Dermatol
Tinea Cruris in Men: Bothersome But
Treatable—www.medscape.com/ viewarticle/ 512992. treat tinea cruris? J Fam Pract.
Jock Itch—www.nlm.nih.gov/ medlineplus/ 8. Singal A, Pandhi D, Agrawal S, Das S. Comparative ef cacy of
J Dermatolog
PRO VIDER RESO URCES Treat.
Fungal Skin Infections—www.dermnetnz.org/
fungal/ .
www.doctorfungus.org/ .
tinea cruris, tinea pedis, and cutaneous candidosis. Int J Dermatol.
Tinea Cruris—http:// emedicine.medscape.com/
article/ 1091806.
REFERENCES parison of two treatment schedules. Mycoses.
Care Survey (NAMCS) and National Hospital Ambulatory comparative study. J Med Assoc Thai.
PART 14
712 CHAPTER 125
DERMATO LO GY
125 TINEA PEDIS ETIO LO GY AND PATHO PHYSIO LO GY

Trichophyton
Katie Re p p a, MD
rubrum. 1
Trichophyton mentagrophytes Epidermophyton occosum
PATIENT STO RY T. rubrum
Figure 125-1 RISK FACTO RS
-
2
INTRO DUCTIO N -
2
DIAGNO SIS
TYPICAL DISTRIBUTIO N AND MO RPHO LO GY

SYNO NYMS
Figure 125-2
Figure 125-3
Figure 125-4
EPIDEMIO LO GY
Figure 125-5
-
1 CLINICAL FEATURES
-
1
1
Figures 125-1 125-2
1
FIGURE 125-2 Tine a p e d is se e n in the inte rd ig ital sp ace b e twe e n the

FIGURE 125-1 Tine a p e d is se e n in the inte rd ig ital sp ace s of an 8-ye ar- fourth and fth d ig its. This is the most common are a to se e tine a p e d is.
old b oy. (Use d with p e rmission from Richard P. Usatine , MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
TINEA PEDIS 713
DERMATO LO GY
FIGURE 125-3 Tine a p e d is in the moccasin d istrib ution. (Use d with FIGURE 125-5 Ulce rative tine a p e d is with sp re ad ing ve sicle s re late d
p e rmission from Richard P. Usatine , MD.) to a b acte rial sup e rinfe ction. The p atie nt was tre ate d with antifung als
and antib iotics. (Use d with p e rmission from Richard P. Usatine , MD.)
Figure 125-3 LABO RATO RY STUDIES
Figure 125-4
- Figure 125-6
Figure 125-7
Figure 125-5 -
Figure 125-8
FIGURE 125-4 Ve sicular tine a p e d is with ve sicle s and b ullae ove r the FIGURE 125-6 Microscop ic vie w of the scrap ing of tine a p e d is. The
arch re g ion of the foot. The arch is a typ ical location for ve siculob ullous hyp hae are e asy to se e und e r 40-p owe r with Swartz-Lamkins stain.
tine a p e d is. (Use d with p e rmission from Richard P. Usatine , MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
714 CHAPTER 125
DERMATO LO GY
FIGURE 125-7 Tine a p e d is around the toe s and the fore foo t of this
child . A KO H p re p aration was mad e to con rm the susp icio n of tine a
p e d is as this p re se ntation could b e cause d b y othe r e tiolog ie s. (Use d
FIGURE 125-9 Pitte d ke ratolysis on the sole of the foo t with some
inte rd ig ital tine a p e d is. The p its are cause d b y b acte ria and tre atme nt
involve s an antibiotic. (Used with p ermission from Richard P. Usatine, MD.)
Figure 125-9
Figure 125-12
Figure 125-10
MANAGEMENT
Table 125-1
Figure 125-11 TO PICAL ANTIFUNGALS
FIGURE 125-8 Juve nile p lantar d e rmatitis cause s e rythe ma, scale ,
cracking and ssure s on the we ig ht-b e aring surface of the foot. It is also
calle d “swe aty sock synd rome ” as the se child re n ofte n have hyp e rhi-
d rosis and swe aty socks. (Use d with p e rmission from We inb e rg SW, FIGURE 125-10 Contact d e rmatitis to a che mical in the rub b e r of the
Prose NS, Kristal L. Color Atlas of Pe d iatric De rmatolog y, 4th e d . shoe s with typ ical d istrib ution that crosse s the d orsum of the foot.
Fig ure 6-13, Ne w York, NY: McGraw-Hill, 2008.) (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
TINEA PEDIS 715
DERMATO LO GY
FIGURE 125-11 Dyshid rotic e cze ma on the foot of a 4-ye ar-old b oy FIGURE 125-12 Plantar p soriasis in a young p atie nt with othe r are as
showing tap ioca ve sicle s and scaling on the sid e s and b ottom of the of p soriasis also p re se nt. KO H p re p aration was ne g ative . (Use d with
foot. This b oy also has se ve re atop ic d e rmatitis. (Use d with p e rmission p e rmission from Richard P. Usatine , MD.)
~ SOR
~ SOR
~
SO R
~
-
Table 125-2 SO R -
~
ALTERNATIVE THERAPY
4 SOR
-
O RAL ANTIFUNGALS
SO R
SO R
SOR PATIENT EDUCATIO N
SOR SO R
SOR
TABLE 125-1 Manag e me nt of Tine a Pe d is
Tre at me nt fo r
Tine a Pe d is Typ e Mild Case s Tre at me nt fo r Re calcit rant Case s SO R
Inte rd ig ital typ e Top ical antifung al Anothe r top ical antifung al or an oral antifung al A
Moccasin typ e Top ical antifung al O ral antifung al A
In ammatory/ve sicular typ e O ral antifung al O ral antifung al A
Re p rinte d with p e rmission from Thomas B. Cle ar choice s in manag ing e p id e rmal tine a infe ctions. J Fam Pract. 2003;52(11):857.
Re p rod uce d with p e rmission from Frontline Me d ical Communications.
PART 14
716 CHAPTER 125
DERMATO LO GY
TABLE 125-2 Top ical Antifung al Me d ications
Ag e nt Fo rmulat io n Fre q ue ncy* Durat io n* (we e ks) NNT†

Imid azo le s
Clotrimazole 1 p e rce nt cre am Twice d aily 2 to 4 2.9
1 p e rce nt solution
1 p e rce nt swab s
Econazole 1 p e rce nt cre am Twice d aily 2 to 4 2.6
Ke toconazole 2 p e rce nt cre am O nce d aily 2 to 4 No d ata availab le
Miconazole 2 p e rce nt cre am Twice d aily 2 to 4 2.8 (at 8 we e ks)
2 p e rce nt sp ray
2 p e rce nt p owd e r
O xiconazole 1 p e rce nt cre am O nce to twice d aily 2 to 4 2.9
1 p e rce nt lotion
Sulconazole 1 p e rce nt cre am O nce to twice d aily 2 to 4 2.5
1 p e rce nt solution
Allylamine s
Nafti ne 1 p e rce nt cre am O nce to twice d aily 1 to 4 1.9
1 p e rce nt g e l
Te rb ina ne 1 p e rce nt cre am O nce to twice d aily 1 to 4 1.6 (1.7 for tine a cruris/tine a
1 p e rce nt solution corp oris at 8 we e ks)
Be nzylamine
Bute na ne 1 p e rce nt cre am O nce to twice d aily 1 to 4 1.9 (1.4 for tine a corp oris and
1.5 for tine a cruris)
O t he r
Ciclop irox 0.77 p e rce nt cre am Twice d aily 2 to 4 2.1
0.77 p e rce nt lotion
Tolnaftate 1 p e rce nt p owd e r Twice d aily 4 3.6 (at 8 we e ks)
1 p e rce nt sp ray
1 p e rce nt swab s
*Manufacture r g uid e line s.

†
NNT, numb e r ne e d e d to tre at. NNT is calculate d from syste matic re vie w of all rand omize d controlle d trials for tine a p e d is at
6 we e ks afte r the initiation of tre atme nt e xce p t whe re othe rwise note d .
Re p rinte d with p e rmission from Thomas B. Cle ar choice s in manag ing e p id e rmal tine a infe ctions. J Fam Pract. 2003;52(11):857.
Re p rod uce d with p e rmission from Frontline Me d ical Communications.
PATIENT RESO URCES

Athlete’s Foot www.emedicinehealth.
com/ athletes_foot/ article_em.htm.

Tinea Pedis http:// emedicine.medscape.com/
article/ 1091684. Am J Clin Dermatol.
REFERENCES Cochrane Database Syst Rev.

Tinea Pedis
J Fam Pract.
-
Mycopathologia. Foot (Edinb).
PART 14
TINEA VERSICO LO R 717
DERMATO LO GY
126 TINEA VERSICO LO R

Me lissa M. Chan, MD
PATIENT STO RY
A young boy is brought to the of ce by his parents with a 2-year

history of his skin turning white on his trunk (Figure 126-1).
The boy denies any symptoms. His parents are afraid that he has
the same thing that Michael Jackson had (vitiligo). The clinician
does a KOH preparation of the white skin and nds the spaghetti
and meatball pattern of Malassezia furfur under the microscope
(Figure 126-2). His parents are relieved to receive a prescription
for the tinea versicolor and to nd out that it is rarely spread to FIGURE 126-2 Positive KO H for tine a ve rsicolor. Microscop ic e xami-
nation of scrap ing s d one from the p re vious p atie nt showing short
others through contact. myce lial forms and round ye ast forms sug g e stive of sp ag he tti and
me atb alls. Swartz-Lamkins stain was use d . (Use d with p e rmission from
INTRO DUCTIO N
SYNO NYMS
Tinea versicolor is a common super cial skin infection caused by the
dimorphic lipophilic yeast Pityrosporum (Malassezia furfur). The most Pityriasis versicolor is actually a more accurate name as “tinea”
typical presentation is a set of hypopigmented macules and patches implies a dermatophyte infection. Tinea versicolor is caused by
with ne scale over the trunk in a cape-like distribution. Pityrosporum and not a dermatophyte.
FIGURE 126-1 Tine a ve rsicolor in a young b oy showing larg e are as of

hyp op ig me ntation. The d arke r b rown is his normal skin color. The Mal-
asse zia furfur d amag e s the me lanocyte s causing the hyp op ig me ntation.
The hyp op ig me ntation is re ve rsib le with tre atme nt. (Use d with p e rmis- B
PART 14
718 CHAPTER 126
DERMATO LO GY
EPIDEMIO LO GY
warm and humid climates.
Pityrosporum (M. furfur), which is a

lipophilic yeast that can be normal human cutaneous ora.
Pityrosporum exists in two shapes—Pityrosporum ovale (oval) and
Pityrosporum orbiculare (round).
skin changes from the round form to the pathologic mycelial form
and then invades the stratum corneum. 1 FIGURE 126-4 Bro wn p atche s of tine a ve rsico lor on ab d ome n of this
te e nag e g irl. (Use d with p e rmission from Richard P. Usatine , MD.)
Pityrosporum is also associated with seborrhea and Pityrosporum fol-
liculitis.
Pityrosporum to the melanocytes, while the pink is an in ammatory Tinea versicolor is found on the chest, abdomen, upper arms, and
reaction to the organism. back, whereas seborrhea tends to be seen on the scalp, face, and ante-
Pityrosporum thrive on sebum and moisture; they tend to grow on rior chest.
the skin in areas where there are sebaceous follicles secreting
sebum. LABO RATO RY STUDIES
A scraping of the scaling portions of the skin may be placed onto a
DIAGNO SIS
the need for heating the slide) is placed on the slide and covered with
CLINICAL FEATURES a coverslip. Microscopic examination reveals the typical “spaghetti-
Tinea versicolor consists of hypopigmented, hyperpigmented, or pink and-meatballs” pattern of tinea versicolor. The “spaghetti,” or more
macules and patches on the trunk that are nely scaling and well-
demarcated. Versicolor means a variety of or variation in colors; tinea round yeast form (Figures 126-6 and 126-7). Fungal stains such as
versicolor tends to come in white, pink, and brown colors (Figures
126-1 to 126-5). elements easier.
FIGURE 126-3 Pink scaly p atche s cause d b y tine a ve rsicolor on the

ne ck of a te e nag e g irl. (Use d with p e rmission from Richard P. Usatine , FIGURE 126-5 Hyp e rp ig me nte d variant of tine a ve rsicolor in a young
MD.) b lack man. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
TINEA VERSICO LO R 719
DERMATO LO GY
FIGURE 126-6 Positive KO H for tine a ve rsicolor showing short myce -

lial forms and round ye ast forms sug g e stive of sp ag he tti (or ziti) and
me atb alls. Swartz-Lamkins stain was use d . (Use d with p e rmission from
FIGURE 126-8 Pityriasis alb a on the b ack of this young b oy that could
lesions and is frequently seen with a herald patch. Negative KOH b e mistake n for tine a ve rsicolor. The KO H was ne g ative and the child
(see Chapter 137, Pityriasis Rosea). had othe r manife stations of atop ic d e rmatitis. (Use d with p e rmission
individual lesion usually has central clearing and a well-de ned, -

raised, scaling border. The KOH preparation in tinea corporis bution is frequently different with vitiligo involving the hands and
face (see Chapter 167, Vitiligo and Hypopigmentation).
meatballs” pattern of tinea versicolor (see Chapter 123, Tinea
Corporis). tend to be found on the face and trunk of children with atopy.
These patches are frequently smaller and rounder than tinea versi-
color (Figures 126-8; see Chapter 130, Atopic Dermatitis).
Pityrosporum folliculitis is caused by the same organism but presents
with pink or brown papules on the back. The patient complains of
itchy rough skin and the KOH is positive.
MANAGEMENT
TO PICAL
mostly for cosmetic reasons.

-
druff shampoos, because the same Pityrosporum species that cause
seborrhea and dandruff also cause tinea versicolor. 1,2
FIGURE 126-7 Close -up of Malasse zia furfur (Pityrosp orum) showing 2 weeks. Various amounts of time are suggested to allow the prep-
the ziti-and -me atb all ap p e arance afte r Swartz-Lamkins stain was
ap p lie d to the scrap ing of tine a ve rsicolor. (Use d with p e rmission from arations to work, but there are no studies that show a minimum
Richard P. Usatine , MD.) exposure time needed. A typical regimen involves applying the
PART 14
720 CHAPTER 126
DERMATO LO GY
lotion or shampoo to the involved areas for 10 minutes and then PATIENT RESO URCES
washing it off in the shower. SO R
www.skinsight.com/ adult/ tineaVersicolor.htm.
single application or daily for 3 days and found it safe and highly PRO VIDER RESO URCES
effective in treating tinea versicolor. 3 SOR
SO R
REFERENCES
O RAL TREATMENT AND PREVENTIO N
Dermatology
Mosby; 2003.
and mycologic cure rate, with no relapse during 12 months of
follow-up. SO R
interventions. Arch Dermatol.
repeated weekly for 2 weeks. No signi cant differences in ef cacy, -

safety, and tolerability between the two treatment regimens were J Am Acad Dermatol.
found. SO R
-
safe and cost-effective compared to using the newer, more expen-
6,7 SO R a one year follow-up study. J Dermatol.
-
been shown to be safe and effective as a prophylactic treatment for J Dermatolog Treat. 2002;
tinea versicolor. 8 SO R
oral antifungals to treat tinea versicolor. used to treat onychomycosis and other dermatomycoses with the
oral antifungal agents. Int J Dermatol.
FO LLO W-UP
Mymensingh Med J.
None needed unless it is a stubborn or recurrent case. Recurrent
cases can be treated with monthly topical or oral therapy. -
PATIENT EDUCATIO N Arch Dermatol.
Patients should be told that the change in skin color will not reverse
immediately. The rst sign of successful treatment is the lack of scale.
with hypopigmentation.
PART 14
LICE 721
DERMATO LO GY
SECTIO N 6 INFESTATIO NS
127 LICE
PATIENT STO RY
A 12-year-old girl presented to a homeless clinic with her mother for

itching on her head. The physical examination revealed multiple nits
in her long straight hair (Figure 127-1). A live adult louse was also
Figure 127-2). The
clinician also examined her mother and found a few nits on the hair
behind her ears. There were no other members of the family living at
the shelter so both were treated with permethrin now and in one
FIGURE 127-2 Ad ult louse hang ing on to the hairs at the nap e of the
ne ck. (Use d with p e rmission from Richard P. Usatine , MD.)
alerted the shelter staff of this infestation and other families were
found to be infested. The girl was given permission to return to
school if she completed her treatment with the permethrin cream
rinse. The clinician recommended that clothes, bed clothes, combs
and brushes be washed in hot water.
INTRO DUCTIO N
Lice are ectoparasites that live on or near the body. 1 They will die of
starvation within 10 days of removal from their human host. Lice
have coexisted with humans for at least 10,000 years. 2 Lice are ubiq-
uitous and remain a major problem throughout the world. 3
SYNO NYMS
Pediculosis, crabs (pubic lice).
EPIDEMIO LO GY
capitis) are found in all countries and climates. 3
approximately 6 to 12 million children, ages 3 to 12 years, are

infested. 4
not a sign of poor hygiene. 5
oval-shaped hair shafts that are dif cult for lice to grasp. 4
Figure 127-3) and bed
FIGURE 127-1 Pe arly nits of the he ad louse se e n in the hair of a
12-ye ar-old g irl living in a home le ss she lte r. (Use d with p e rmission from
Richard P. Usatine , MD.) of crowding.
PART 14
722 CHAPTER 127
DERMATO LO GY
FIGURE 127-5 A b od y louse fe e d ing on the b lood of the p hotog ra-

p he r. The d ark mass insid e the ab d ome n is a p re viously ing e ste d b lood
me al. (Use d with p e rmission from Ce nte rs for Dise ase Control and
Pre ve ntion and Frank Collins, PhD.)
FIGURE 127-3 Ad ult b od y lice and nymp hs visib le along the p ant ~ Pediculus humanus corporis -
se ams of a p atie nt with b od y lice . (Use d with p e rmission from Richard
P. Usatine , MD.)
sure 2 to 4 mm in length (Figure 127-5).
~ Pubic or crab lice (Phthirus pubis)—Pubic lice are shorter,
with a broader body and have an average length of 1 to 2 mm
(Figure 127-6).
adults. Young children with pubic lice typically have infestations of
the eyelashes. Although infestations in this age group may be an
approximately 10 eggs (nits) a day. 4
indication of sexual abuse, children generally acquire the crab lice
from their parents. 6
Figure 127-7).

nymph is 7 to 14 days.
5
them to attach to hair and clothing. There are three types of lice
daily on human blood and can only survive 1 to 2 days away from hair of infested individuals. The role of fomites (e.g., hats, combs,
the host. The three types of lice are as follows:
~ Pediculus humanus capitis)—Measure 2 to 4 mm in
length (Figures 127-2 and 127-4).
FIGURE 127-6 The crab louse has a short b od y and its larg e claws
FIGURE 127-4 Ad ult he ad louse with e long ate d b od y. (Use d with p e r- are re sp onsib le for the “crab ” in its name . (Use d with p e rmission
mission from Ce nte rs for Dise ase Control and Pre ve ntion and De nnis from Ce nte rs for Dise ase Control and Pre ve ntion and World He alth
D. Jurane k.) O rg anization.)
PART 14
LICE 723
DERMATO LO GY
DIAGNO SIS
CLINICAL FEATURES
that nits are glued to the hairs and are hard to remove, whereas
allergic response to louse saliva. 7
lesions become superinfected.

-
FIGURE 127-7 Microscop ic vie w of a nit ce me nte d to the hair and
ab out to hatch. (Use d with p e rmission from Dan Stulb e rg , MD.)
(Figure 127-3).
8
brushes) in transmission is negligible. 6
vectors for transmission of disease among humans.
found on the chest, abdomen, and thighs. 8
recognized vectors for transmission of the pathogens responsible TYPICAL DISTRIBUTIO N

for epidemic typhus, trench fever, and relapsing fever. 5
Figure 127-8), infestations of eyelashes,

eyebrows, beard, upper thighs, abdominal, and axillary hairs may does not mean that the infestation has resolved (Figures 127-1 and
also occur. 127-6
nit comb (teeth of comb are 0.2 mm apart) better detects active
louse infestation than visual inspection of the hair and scalp alone.9
RISK FACTO RS
(Figure 127-3).
Figure 127-8).
schools or between siblings at home. These lice and their nits may also be seen on the hairs of the upper
thighs, abdomen, axilla, beard, eyebrows, and eyelashes. Little
infestation. The diagnosis of pubic lice in a child (under age 18)

should prompt the clinician to inquire about sexual abuse.

-
Figures 127-1 to 127-9).
-
mation of lice infestation.
can use the morphology of the body and legs to determine the type
of louse causing the infestation.
FIGURE 127-8 Crab lice infe sting p ub ic hair. (Use d with p e rmission
from the Unive rsity of Te xas He alth Scie nce s Ce nte r, Division of
De rmatolog y.) other sexually transmitted diseases. 5
PART 14
724 CHAPTER 127
DERMATO LO GY
infested hair.
~ Pyrethrins are only pediculicidal, whereas permethrin is both
failure is common with these agents owing to the emergence of

resistant strains of lice.
~ After 7 to 10 days repeating the application is optional when
permethrin is used, but is a necessary for pyrethrin. Lice per-
sisting after treatment with a pyrethroid may be an indication of
resistance.
~
and is a highly effective pediculicidal and ovicidal agent for resis-

tant lice. Malathion may have greater ef cacy than pyrethrins. 12
lotion is applied to dry hair for 8 to 12 hours and then washed.

FIGURE 127-9 A g ro up o f me d ical stud e nts is he lp ing child re n in
Ethiop ia to ap p ly p e rme thrin to the ir lice infe ste d hair. (Use d with Repeat application is recommended after 7 to 10 days if live lice
p e rmission from Richard P. Usatine , MD.) -
cent to 95 percent effective. 12 SOR
~
-
the scalp and hair, and then rinsed off with water. The treatment
is repeated after 7 days. 13 SO R
~
absent. is a fermentation product of the soil bacterium Saccharopolyspora

- spinosa
approximately 85 percent effective in lice eradication, usually
-
rmed by microscopic examination of the scrapings from lesions for scalp and hair, and rinsed off after 10 minutes. Treatment should
be repeated if live lice remain 7 days after the initial applica-
tion. 14 SOR
~
lotion for the treatment of head lice for people above 6 months
MANAGEMENT
safety of ivermectin in infants younger than age 6 months has not
NO NPHARMACO LO GIC
been established. 15 SO R
~
for head lice, mechanical removal of lice by wet combing is an pediculicides; these products may result in reduced ef cacy. 16
alternative therapy. A 1:1 vinegar: water rinse (left under a condi- ~
tioning cap or towel for 15 to 20 minutes) or 8 percent formic acid was better than another; permethrin, synergized pyrethrin,
crème rinse may enhance removal of tenacious nits. 8 and malathion were all effective in the treatment of head lice. 17
SOR SOR
~
~
application of all treatments. This step is critical in achieving and lindane 1 percent shampoo. Permethrin 5 percent is conven-
resolution. tionally used to treat scabies; however, it is anecdotally recom-
~
mended for treatment of recalcitrant head lice. 5 SOR
~ Lindane is considered a second-line treatment option owing to
treated with pediculicides. 10 the possibility of central nervous system toxicity, which is most
severe in children.
MEDICATIO NS ~
Pediculus humanus capitis (head lice):

~
10 days apart. SO R Trimethoprim-sulfamethoxazole is pos-
4
pyrethrins with piperonyl butoxide (which inhibits pyrethrin
to the hair and scalp and left on for 10 minutes then rinsed sulfamethoxazole is recommended in cases of multiple treatment
out. 11 SO R Figure 127-9, a group of medical students is failure or suspected cases of resistance to therapy. 5,10 SO R
PART 14
LICE 725
DERMATO LO GY
Pediculus humanus corporis (body lice): REFERENCES

~
J Fam Pract. 2003;52(5):
- 377-379.
8
nate body lice.
~ -
lice infection. Parasitol Today. 2000;16(7):269.
gent population), a monthly application of 10 percent lindane
powder can be used to dust the lining of all clothing. 8 N Engl J Med. 2002;346:
~ Additionally, permethrin cream may be applied to the body for 8 1645.
to 12 hours to eradicate body lice. Pediatrics. 2002;110(3):
Phthirus pubis (pubic lice): 638-643.
~ Pubic lice infestations are treated with a 10-minute application of
Red Book: 2006
the same topical pediculicides used to treat head lice. Report of the Committee on Infectious Diseases
~ Retreatment is recommended 7 to 10 days later.
~ Petroleum ointment applied 2 to 4 times a day for 8 to 10 days
will eradicate eyelash infestations.

~ - Harrison’s Principles
inate nit-bearing hairs. 8 of Internal Medicine
2601-2602.
PREVENTIO N Am Fam
Physician. 2004;69(2):341-348.
person during the 2 days prior to therapy in hot water and/ or dry- Nelson Textbook of Pediatrics, 16th
that cannot be washed may be dry cleaned or stored in a sealed -

nosis of pediculosis capitis: visual inspection vs wet combing. Arch
Dermatol. 2009;145(3):309-313.
FO LLO W-UP
infestation: single drug versus combination therapy with one per-
- cent permethrin and trimethoprim/ sulfamethoxazole. Pediatrics.
rm eradication of lice.
blinded study of 1 percent permethrin creme rinse with and

PATIENT EDUCATIO N without adjunctive combing in patients with head lice. J Pediatr.
2002;141(5):665-670.
-
cles of clothing, bed linen, combs, brushes, and hats.
pediculicidal ef cacy of treatments in a resistant head lice popula-
Arch Dermatol. 2002;138(2):220-224.
-
appropriate treatment for infested individuals is important in avoid-
ing recurrence.
topical treatment for head lice (pediculosis humanus capitis).
Pediatr Dermatol. 2010;27(1):19-24.
PATIENT RESO URCES and safety of spinosad and permethrin creme rinses for pediculo-
Lice—www.emedicinehealth.com/ lice/ sis capitis (head lice). Pediatrics. 2009;124(3):e389-e395.
article_em.htm. 15. Ivermectin Lotion 0.5% (Sklice) Clinical Review (NDA). http:// www.
Parasites–Lice—
www.cdc.gov/ parasites/ lice/ index.html.
2012.
Parasites—www cycle, resistance, and safety considerations. Pediatrics. 2007;
.cdc.gov/ ncidod/ dpd/ parasites/ lice/ default.htm. 119(5):965-974.
Pediculosis (Lice)—http:// emedicine.medscape Cochrane Database
.com/ article/ 225013. Syst Rev
PART 14
726 CHAPTER 128
DERMATO LO GY
128 SCABIES
Pie rre Chanoine , MD
PATIENT STO RY
Figures 128-1 128-2
Figures 128-3 128-4 FIGURE 128-2 The b oy in Fig ure 128-1 with a close -up of his hand
showing crusting and a ssure . (Use d with p e rmissio n from Richard P.
Usatine , MD.)
Sarcoptes scabei
SYNO NYMS Figure 128-3). 1,4
Figure 128-4 Figure 128-5).

EPIDEMIO LO GY
1
Figures 128-1 128-2 128-6 128-8). 1
FIGURE 128-1 Cruste d scab ie s (Norwe g ian scab ie s) in a 2-ye ar-old FIGURE 128-3 Microscop ic vie w of the scab ies mite from a p atie nt with
b oy. (Use d with p e rmission from Richard P. Usatine , MD.) cruste d scab ie s. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
SCABIES 727
DERMATO LO GY
FIGURE 128-4 Scrap ing of the p atie nt’s hand p rod uce d a g ood vie w
of the scyb ala (the mite s’ fe ce s). (Use d with p e rmission from Richard P. FIGURE 128-6 Norwe g ian scab ie s with crusting on the hand of a
Usatine , MD.) 3-ye ar-old b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
Figures 128-9
DIAGNO SIS
1
CLINICAL FEATURES
1
Figure 128-10
Figures 128-11 128-12 Figures 128-13
Figure 128-14).
Figures 128-11 128-12).

RISK FACTO RS
Figure 128-13
1 Figures 128-15 128-16
1
Figure 128-17 Figure 128-18 Figure 128-19
FIGURE 128-5 Scab ie s e g g s from a scrap ing . (Use d with p e rmission FIGURE 128-7 Cruste d scab ie s on the fe e t o f a malnourishe d g irl in
from Richard P. Usatine , MD.) Haiti. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
728 CHAPTER 128
DERMATO LO GY
FIGURE 128-8 Cruste d scab ie s on the foot of a 5-ye ar-old b oy with

Down synd rome . (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 128-11 Scab ie s infe station on the hand of a 17-ye ar-old te e n-

ag e r with visib le b urrows and p ap ule s. De rmoscop y re ve ale d scab ie s
mites within burrows. (Used with p ermission from Richard P. Usatine, MD.)
FIGURE 128-9 Scab ie s has b e e n transmitte d b y skin to skin contact in

this family. The p ho tog rap h shows the active infe ction on the skin of
the infant and the hand s of the mothe r and fathe r. (Use d with p e rmis-
sion from Richard P. Usatine , MD.) FIGURE 128-12 Burrows p romine ntly visib le b e twe e n the ng e rs.
Burrows are a classic manife station of scab ie s. (Use d with p e rmission
FIGURE 128-10 Scab ie s p ap ule s o n the foot of a 3-month-old child . FIGURE 128-13 Scab e tic nod ule s in the axilla of a tod d le r with
(Use d with p e rmission from Richard P. Usatine , MD.) scab ie s. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
SCABIES 729
DERMATO LO GY
FIGURE 128-14 Scab ie s on the foot of a 9-month-old infant with p us-

tule s. Althoug h this also loo ks like acrop ustulosis, the mothe r also had
scab ie s. (Use d with p e rmission from Richard P. Usatine , MD.) FIGURE 128-17 Scab ie s found in the classic location b e twe e n the
ng e rs in this inte rd ig ital we b sp ace . (Use d with p e rmission from
FIGURE 128-15 Pruritic p ap ule s of scab ie s on the fore skin of the

p e nis, hand s, and g roin acq uire d as a se xually transmitte d d ise ase . FIGURE 128-18 Scabies papules found prominently around the wrists of
(Use d with p e rmission from Richard P. Usatine , MD.) this 15-year-old boy. (Used with p ermission from Richard P. Usatine, MD.)
A B
FIGURE 128-16 Pap ule s and nod ule s on the g lans p e nis, p e nile shaft and scrotum are typ ical of scab ie s. A. Nod ular scab ie s in a 6-ye ar-old b oy.
(Use d with p e rmission from Rob e rt Brod e ll, MD.) B. Pruritic p ap ule s of scab ie s on the g lans of this te e nag e r. (Use d with p e rmission from Richard P.
Usatine , MD.)
PART 14
730 CHAPTER 128
DERMATO LO GY
FIGURE 128-19 Ethiop ian child with wid e ly d istrib ute d scab ie s se e n
p romine ntly on the wrists and ankle s. (Use d with p e rmission from
Richard P. Usatine , MD.) FIGURE 128-21 Scab ie s on the he ad and face of a young b re astfe e d -
ing b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
Figure 128-20 Figure 128-13

Figures 128-1 128-2 128-6 128-7).
Figures 128-15 128-16).
Figure 128-21).
LABO RATO RY STUDIES AND IMAGING
Figures 128-3 128-5
Figure 128-22
FIGURE 128-22 Two scab ie s mite s visib le with d e rmoscop y. Note how
the d arke st most visib le asp e ct of the mite looks like an arrowhe ad or
FIGURE 128-20 Scab ie s around the waist showing p ostin ammatory je t p lane . In this case the oval b od ie s of the mite s are also visib le . The
hyp e rp ig me ntation along with multip le p ap ule s and some crusting . up p e r rig ht inse t shows the same b urrows without d e rmoscop y. (Use d
(Use d with p e rmission from Richard P. Usatine , MD.) with p e rmission from Richard P. Usatine , MD.)
PART 14
SCABIES 731
DERMATO LO GY
S. scabiei
11
BIO PSY

FIGURE 128-23 Using a #15 scalp e l he ld p e rp e nd icular to the skin to
scrap e a susp icious b urrow for scab ie s. Some mine ral oil was ap p lie d
to the scalp e l and the scrap ing must b e d e e p e noug h to g e t some tis-
sue . (Use d with p e rmission from Richard P. Usatine , MD.)
Figure 128-23
Figure 128-24
A B
FIGURE 128-24 A. Sup e rinfe cte d scab ie s from he ad to toe in this young b oy. B. Note the larg e p ustule s on the fo ot of this b oy d e monstrating the
b acte rial sup e rinfe ction. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
732 CHAPTER 128
DERMATO LO GY
SO R
SO R
FIGURE 128-25 Infantile acrop ustulo sis in a 9-month-old child that

was mistake nly tre ate d for scab ie s. No one e lse in the house hold had
le sions and the scab ie s tre atme nt d id not le ad to re so lution of the p us-
tule s and ve sicle s. (Use d with p e rmission from Richard P. Usatine , MD.) SOR
14
Figure 128-25 14
Figure 128-23 SOR

MANAGEMENT
NO NPHARMACO LO GIC
SO R PREVENTIO N
MEDICATIO NS
PRO GNO SIS

SOR
1
SO R
1
14
FO LLO W-UP
SOR
14
PART 14
SCABIES 733
DERMATO LO GY
of Childhood and Adolescence

PATIENT EDUCATIO N
Scabies: Epidemiology
and Risk Factors
Arch Dermatol.
J Fam Pract.
J Am Acad Dermatol.
PATIENT RESO URCES
www.cdc.gov/ parasites/ scabies/ .
Arch Dermatol.
http:// dermnetnz.org/ arthropods/ scabies.html. Pediatr Dermatol.
Clin Microbiol Rev.

REFERENCES
Scabies: Treatment
Lancet Infect Dis.
Pediatr Dermatol.
N Engl J Med.
Pediatr Infect Dis J Melaleuca alternifolia
Hur-
witz Clinical Pediatric Dermatology: A Textbook of Skin Disorders Clin Microbiol Rev.
PART 14
734 CHAPTER 129
DERMATO LO GY
129 CUTANEO US LARVA

MIGRANS
Je nnife r A. Ke e hb auch, MD
PATIENT STO RY
A mother brought her 18-month-old son to the physician’s of ce for

an itchy rash on his feet and buttocks (Figures 129-1 and 129-2). 1
The rst physician examined the child and made the incorrect diagno-
sis of tinea corporis. The topical clotrimazole cream failed. The child
was unable to sleep because of the intense itching and was losing
weight secondary to his poor appetite. He was taken to an urgent FIGURE 129-2 Cutane ous larva mig rans on the b uttocks and thig h of
care clinic where the physician learned that the family had returned the same b oy showing sig ni cant e xcoriations. (Use d with p e rmission
from Richard P. Usatine , MD. Usatine RP. A rash on the fe et and buttocks.
from a trip to the Caribbean prior to the visit to the rst physician. We st J Me d . 1999;170(6):344-335.)
The child had played on beaches that were frequented by local dogs.
The physician recognized the serpiginous pattern of cutaneous larva
migrans (CLM) and successfully treated the child with oral ivermec- af uent communities in these same countries with only 1 to 2 per
tin. The child was 15 kg so the dose was 3 mg (0.2 mg/ kg), and the 10,000 individuals per year. 4
tablet was ground up and placed in applesauce.
states, and the Gulf Coast. 2
4
SYNO NYMS
Creeping eruption, Plumber’s itch. ETIO LO GY AND PATHO PHYSIO LO GY
Ancylos-
EPIDEMIO LO GY toma braziliense, Ancylostoma caninum, or Uncinaria stenocephala). 4
2
2
2,3
2
3
as 15 percent in resource poor areas, but much less common in DIAGNO SIS
The diagnosis is based on history and clinical ndings.
CLINICAL FEATURES
long (Figures 129-1 to 129-3). 2,5

3
are self-limiting. 5
Figure 129-4).
~ Most commonly the feet, buttocks, and thigh. 3

FIGURE 129-1 The se rp ig inous rash of cutane ous larva mig rans on
the foot of an 18-month-old b oy afte r a family trip to the b e ache s of LABO RATO RY AND IMAGING
the Carib b e an. (Use d with p e rmission from Richard P. Usatine , MD.
Usatine RP. A rash on the fe e t and b uttocks. We st J Me d . 1999;170(6):
5
344-335.)
PART 14
CUTANEO US LARVA MIGRANS 735
DERMATO LO GY
presence of vesicles, and absence of classical serpiginous tracks
macules or patches and are not raised and serpiginous (see Chapter
erythematous with vesicles; this later develops into postin amma-

tory hyperpigmented lesions. This may be acquired while preparing
drinks with lime on the beach and not from the sandy beach
infested with larvae.
MANAGEMENT
of choice. 3,5
~ The recommended dose is 400 mg daily for 3 days.
3,5 SO R
~ Cure rates with albendazole exceed 92 percent, but are less with
FIGURE 129-3 Clo se -up of a se rp ig inous b urrow from cutane ous larva
mig rans on the le g . The actual larva is 2 to 3 cm b e yond the visib le single dosage. 3
tracks. (Use d with p e rmission from John Gonzale z, MD.)
-
daily for 1 to 2 days. 3,5

indication.
DIFFERENTIAL DIAGNO SIS ~ A single dose of ivermectin 0.2 mg/ kg is also recommended.
3
SO R
May be confused with the following conditions: ~
3
~ -
lent safety pro le. 3
of CLM is circular, this can lead to the incorrect diagnosis of ~ -
“ringworm.” The irony is that ringworm is a dermatophyte fungus ers, and in children weighing less than 15 kg. 3
whereas CLM really is a worm (see Chapter 123, Tinea Corporis). ~
use are limited, but promising for use in children. 3

3
SO R
ADJ UNCT THERAPY
FO LLO W-UP
PATIENT EDUCATIO N
FIGURE 129-4 Cutane ous larva mig rans on the le g of a te e nag e r. He

d e ve lop e d this p ruritic se rp ig inous rash se ve ral d ays afte r re turning
from the b e ach. It e xte nd e d se ve ral mm in le ng th e ach d ay and a b lis-
te r d e ve lop e d at the d istal p oint of the b urrow in the p ast 24 hours.
(Use d with p e rmission from Rob e rt T. Brod e ll, MD.) dispose of feces properly.
PART 14
736 CHAPTER 129
DERMATO LO GY
PATIENT AND PRO VIDER RESO URCES -

Dermatology http:// emedicine.medscape teristics of hookworm-related cutaneous larva migrans. Lancet
.com/ article/ 1108784. Infect Dis. 2008;8(5):302-309.
Pediatrics http:// emedicine.medscape.com/
article/ 998709. neglected category of poverty-associated plagues. Bull World Health
Organ.
http:// www.cdc.gov/ parasites/
zoonotichookworm/ health_professionals/ Infectious Disease Related
index.html. to Travel. CDCYellow Book. 2012. http:// wwwnc.cdc.gov/ travel/
yellowbook/ 2012/ chapter-3-infectious-diseases-related-to-travel/
REFERENCES N Engl
West J Med J Med
(6):334-335.
and cats as agents of cutaneous larva migrans Trends Parasitol. 98 patients. Clin Infect Dis. 1994;19:1062-1066.
PART 14
ATO PIC DERMATITIS 737
DERMATO LO GY
SECTIO N 7 DERMATITIS/ALLERGIC
130 ATO PIC DERMATITIS

Lind se y B. Finkle a, MD
PATIENT STO RYX
A 1-year-old Asian American girl is brought to her family physician

for a new rash on her face and legs (Figures 130-1 and 130-2). The
child is scratching both areas but is otherwise healthy. There is a fam-
ily history of asthma, allergic rhinitis, and atopic dermatitis (AD) on
the father’s side. The child responded well to low-dose topical corti-
costeroids and emollients.
FIGURE 130-2 Atopic dermatitis on the leg of the infant in Fig ure 130-1.
INTRO DUCTIO N The coin-like pattern is that of nummular eczema. (Used with permission
from Milgrom EC, Usatine RP, Tan RA, Spector SL. Practical Allergy.
AD is a chronic and relapsing in ammatory skin disorder character- Philadelphia, PA: Elsevier; 2004.)
ized by itching and in amed skin that is triggered by the interplay of
genetic, immunologic, and environmental factors.
increasing in industrialized nations.
-
SYNO NYMS 1
1/ 3 will persist into adulthood.
Figure
Eczema, atopic eczema. 130-3). 1
EPIDEMIO LO GY ETIO LO GY AND PATHO PHYSIO LO GY
the most common skin condition in children. 1 maternal side.
FIGURE 130-1 Atop ic d e rmatitis on the che e ks of an infant. (Use d FIGURE 130-3 The child and his mo the r b oth have atop ic d e rmatitis
with p e rmission from Milg rom EC, Usatine RP, Tan RA, Sp e ctor SL. b ut not in the most typ ical d istrib ution. (Use d with p e rmission from
Practical Alle rg y. Philad e lp hia, PA: Else vie r; 2004.) Richard P. Usatine , MD.)
PART 14
738 CHAPTER 130
DERMATO LO GY
FIGURE 130-4 A te e nag e r with atop ic d e rmatitis sup e rinfe cte d b y

he rp e s (e cze ma he rp e ticum). (Use d with p e rmission from Richard P.
Usatine , MD.)
serum immunoglobulin (Ig) E, hyperstimulatory Langerhans cells,

defective cell-mediated immunity, and loss of function mutation in
FIGURE 130-5 Ecze ma vaccinatum in a 17-ye ar-old woman with atop ic

Staphylococcus aureus act as superantigens and stimulate d e rmatitis who was g ive n the smallp ox vaccine . This e rup tion b e came
activation of T-cells and macrophages, worsening AD without actually this se ve re 8 d ays afte r he r vaccination. (Use d with p e rmission from
showing signs of superinfection. CDC and Arthur E. Kaye .)
(eczema herpeticum as seen in Figure 130-4) or bacteria (wide-
Figures
spread impetigo). They are also at risk of a bad reaction to the
130-1 and 130-7
the antecubital and popliteal fossa (Figures 130-8 to 130-10).
the vaccination site. Eczema vaccinatum is a potentially deadly
Figure 130-5).
(Figures 130-11 and 130-12).
DIAGNO SIS
as “the itch that rashes” as patients will often feel the need to
scratch before a primary lesion appears. If it does not itch, it is not
other allergic conditions, namely asthma and allergic rhinitis.
the skin.
nodularis. Crust may indicate that a secondary infection has

FIGURE 13 0-6 A yo ung b lack g irl with ato p ic d e rmatitis sho wing fol-
licular hyp e racce ntuation on the ne ck. This p atte rn of atop ic d e rmatitis
hyperaccentuation (more prominent hyperkeratotic follicles; is more common in p ersons of color. (Use d with p ermission from Richard
Figure 130-6 P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 130-9 Atop ic d e rmatitis in the ante cub ital fossae of a 6-ye ar-
old b oy. Note the e rythe matous p laq ue s with e xcoriations. (Use d with
FIGURE 130-7 An infant with ato p ic d e rmatitis o n the face that has O THER FEATURES O R CO NDITIO NS
b ecome supe rinfe cted. (Used with permission from Milg rom EC, Usatine ASSO CIATED WITH ATO PIC DERMATITIS
RP, Tan RA, Spector SL. Practical Allergy. Philad elp hia, PA: Elsevie r; 2004.)
Figure 130-15).
Figure 130-16).
as well as all the other areas (Figures 130-13 and 130-14). Figures 130-17 and 130-18).
3
Figure 130-13).
an increasing prevalence of hand involvement with increasing age.
Figure 130-14).

Figure 130-19).
FIGURE 130-8 The same infant with supe rinfe cte d atop ic d e rmatitis of FIGURE 130-10 A 20-ye ar-old young woman with se ve re chronic
the pop lite al fossa. (Use d with p e rmission from Milg rom EC, Usatine RP, atop ic d e rmatitis showing liche ni cation and hyp e rp ig me ntation in the
Tan RA, Sp e ctor SL. Practical Alle rg y. Philad e lp hia, PA: Else vie r; 2004.) p op lite al fossa. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
740 CHAPTER 130
DERMATO LO GY
FIGURE 130-11 A 2-ye ar-old g irl with atop ic d e rmatitis visib le on he r

hands, wrists, and arms. (Used with permission from Richard P. Usatine, MD.)
FIGURE 130-14 A young g irl with the atop ic triad . The p atie nt has
De nny Morg an line s visib le on the lowe r e ye lid s. She was ob se rve d
d oing the alle rg ic salute many time s d uring he r of ce visit. (Use d with
FIGURE 130-12 The g irl in Fig ure 130-11 with an e xace rb ation of he r
atop ic d e rmatitis on the ankle showing many e xcoriations. (Use d with
FIGURE 130-15 Ke ratosis p ilaris on the late ral up p e r arm. The p ap -

ule s can vary in color from p ink to b rown to white d e p e nd ing up on the
FIGURE 130-13 Ang ular che ilitis in an infant with atop ic d e rmatitis. skin color of the p e rson. (Use d with p e rmission from Richard P. Usatine ,
(Use d with p e rmission from Richard P. Usatine , MD.) MD.)
PART 14
DERMATO LO GY
FIGURE 130-16 Acq uire d ichthyosis on the le g of a 9-ye ar-old b oy

with atop ic d e rmatitis. Note the sh-scale ap p e arance along with the FIGURE 130-18 An 18-month-old g irl with atop ic d e rmatitis visib le in
d ry skin. (Use d with p e rmission fro m Richard P. Usatine , MD.) he r p op lite al fossa and p ityriasis alb a on he r arm (Use d with p e rmis-
sio n from Richard P. Usatine , MD.)
Figure 130-20),
cataracts, and orbital darkening. rule out tinea or a skin scraping to rule out scabies. Of course, both
a patient with allergic rhinitis prone to performing the allergic

salute. In some patients, this crease may become hyperpigmented
(Figure 130-21).
and feet with tapioca-like vesicles, especially seen between the
FIGURE 130-19 Se ve re atop ic d e rmatitis in a 2-ye ar-old b lack b oy

FIGURE 130-17 Pityriasis alb a on the face of a young b oy. (Use d with with ve ry d ry (xe rotic) skin. He is sp ontane ously scratching and crying
p e rmission from Richard P. Usatine , MD.) out in d iscomfort. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
742 CHAPTER 130
DERMATO LO GY
MANAGEMENT
mites reduces severity of symptoms in patients with the atopic

triad. Bedding covers were found to be the most effective method
to control dust mites and AD symptoms in this subgroup of AD
be effective for patients with AD that do not have the full atopic
triad. 1 SO R
with proven egg allergies. SO R

that dietary manipulation in children or adults reduces symptom
severity and may cause iatrogenic malnourishment.
rich detergents, wool clothing), and dry skin care should be

FIGURE 130-20 Ke ratoconus in a young woman with se ve re atop ic optimized.
d e rmatitis. She ad mits to rub b ing he r e ye s fre q ue ntly. In ke ratoconus
the corne a b ulg e s out in the mid d le like a cone and can ad ve rse ly
affe ct the he alth of the e ye . (Use d with p e rmission from Richard P. water) lower the S. aureus burden on the skin, decreasing severity
Usatine , MD.) of AD. 4 SO R
mother and prolonged nursing of child may delay onset of AD. 1

SO R
ankle, wrist, and neck.

TO PICAL THERAPIES
distinguishing from AD (see Chapter 131, Contact Dermatitis). and are the mainstay of treatment. 1 SO R
-
tion, and lesion morphology. The ointments are best for dry and
cracked skin and are more potent. Creams are easier to apply and
are better tolerated by some patients.
that have not responded to weaker steroids. Avoid strong steroids

on face, genitals, and armpits and in infants and small children.
-
pulse-therapy mode (e.g., apply every weekend, with no applica-

tion on weekdays).
pimecrolimus and tacrolimus) reduce the rash severity and symp-

toms in children and adults. 1 SO R These work by suppressing
cytokine release. These are steroid-sparing medications that are

FIGURE 130-21 Hyp e rp ig me nte d ho rizo ntal nasal cre ase in a p atie nt helpful for eyelid eczema and in other areas when steroids may
with the ato p ic triad who re p e ate d ly p e rfo rms the alle rg ic salute
whe n he r no se is fe e ling itchy. (Use d with p e rmission fro m Richard P. thin the skin (Figure 130-22). These agents are now only approved
Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 130-22 Atop ic d e rmatitis involving the e ye lid s in this 8-ye ar-
old g irl with atop ic d e rmatitis since infancy. A top ical calcine urin inhib i-
tor he lp e d to g e t the e ye lid e cze ma und e r co ntrol. (Use d with p e rmis-
should not be used as rst-line agents because of a possible risk of

causing cancer. The American Academy of Dermatology (AAD)
has released a statement that the “data does not prove that the
proper topical use of pimecrolimus and tacrolimus is dangerous.” FIGURE 13 0-2 4 Atop ic d e rmatitis so are d up from he ad to ankle s
- that this 17-ye ar-o ld te e n was starte d on oral cyclosp o rine . He r
re sp onse to cyclosp orine ove r the ne xt 2 months was so e xce lle nt
tion of pruritus. 1 SO R that she was ab le to g o o ff the cyclo sp o rine and ke e p he r skin cle ar
with e mollie nts and occasional to p ical ste ro id s. (Use d with p e rmission
secondarily infected with bacteria. The most common infecting
organism is S. aureus -
bation should prompt consideration of antibiotic use1 (Figures
130-7, 130-8, and 130-23). SO R are to be used, the sedating agents are most effective and can be
given at night. 1 SO R
O RAL/ SYSTEMIC THERAPIES
-
- tenance therapy to treat and avoid relapse.1 SOR
cinolone (40 mg in 1 mL of 40 mg/ mL suspension for adults).1 SOR
2 years in Europe (Figure 130-24). A short course with careful moni-
toring can be very helpful.
some success. 1 SO R
possible bene t, but there is less evidence for their effectiveness. 1

SO R
FO LLO W-UP
Regular follow-up should be given to patients with chronic and dif -

cult-to-control AD. Establishing a good regimen is crucial to good con-
PATIENT EDUCATIO N
FIGURE 130-23 Sup e rinfe cte d atop ic d e rmatitis on the che e ks. The
crusting is a sig n of se cond ary infe ction usually cause d b y Stap h. aure us Patients need to know that scratching their AD makes it worse.
or Stre p . p yog e ne s. (Use d with p e rmission from Richard P. Usatine , MD.) Behavior modification is especially challenging in young children
PART 14
744 CHAPTER 130
DERMATO LO GY
TABLE 130-1 Writte n Action Plan to Be Give n to Patie nts and may involve cutting fingernails short and occluding hands/
(or The ir Pare nts) body at night with cotton gloves or clothing. Because of its
chronicity and cyclic nature, AD patients may have poor adher-
No skin le sions Pre ve ntion: Emollie nts, d ry skin care ,
or d ry skin frag rance -fre e d e te rg e nt, no d rie r A written action plan may be employed to improve adherence
she e ts, once we e kly b le ach b ath (Table 130-1).
Mild are Pre ve ntion p lus low-mid p ote ncy
top ical ste roid and /or calcine urin REFERENCES
inhib itors (e .g ., hyd rocortisone 2.5
p e rce nt or tacrolimus 0.1 p e rce nt
to face , axillae , g e nitals; d e sonid e atopic dermatitis. J Am Acad Dermatol.
0.1 p e rce nt or triamcinolone 0.1
p e rce nt to b od y) Pediatr Allergy Immunol.
Mod e rate are Pre ve ntion p lus mid -hig h p ote ncy
top ical ste roid s and /or calcine urin
inhib itor (e .g ., triamcinolone und e r patients with atopic dermatitis. Dermatitis.
we t p ajamas b id to clob e tasol for
short course ) Staphylococcus aureus colonization in atopic dermatitis to decrease
disease severity. Pediatrics.
Se ve re are Syste mic the rap y
Ad ap te d from Rance F, Bog unie wicz M, and Lau S,2 and from potential for improving outcomes in children with atopic dermatitis.
Chisolm SS, Taylor SL, Balkrishnan R, e t al.5 J Am Acad Dermatol.
PART 14
CO NTACT DERMATITIS 745
DERMATO LO GY
131 CO NTACT DERMATITIS

PATIENT STO RY
An 11-year-old girl presents with a rash on her abdomen for the past
month (Figure 131-1).
She denies other skin problems but her mother states that she had
atopic dermatitis as a baby. The clinician readily identi es the problem as
a nickel allergy to the nickel found in her belt buckle and jeans. He pre-
scribes avoidance of nickel contact to the skin and prescribes 0.1 percent
triamcinolone ointment to be applied twice daily until the contact der-
matitis resolves. He describes various methods to cover medal snaps in-
tense including sewing and fabric or painting clear nail polish over the FIGURE 1 3 1 -2 O ccup atio nal irritant co ntact d e rmatitis in a wo man
metal. Neither method works 100 percent but it is hard to nd jeans who se hand s are e xp o se d to che micals while making co wb o y hats in
without metal snaps. The patient responded rapidly to treatment. 1,2 Te xas. O ccup ational e xp osure s mig ht affe ct te e ns as the y b e g in to
e nte r the work force . (Use d with p e rmission fro m Richard P. Usatine ,
MD.)
INTRO DUCTIO N
Contact dermatitis (CD) is a common in ammatory skin condition

characterized by erythematous and pruritic skin lesions resulting from allergens out of more than 3700 known contact allergens are nickel
the contact of skin with a foreign substance. Irritant contact dermatitis (14.3% of patients tested), fragrance mix (14%), neomycin
(ICD) is caused by the non–immune-modulated irritation of the skin 5
by a substance, resulting in a skin changes. Allergic contact dermatitis -

(ACD) is a delayed-type hypersensitivity reaction in which a foreign matic injuries as the most common type of occupational disease.
substance comes into contact with the skin, and upon reexposure, skin Chemical irritants such as solvents and cutting uids account for
changes occur. 3 most ICD cases. Sixty percent were ACD and 32 percent were
ICD. Hands were primarily affected in 64 percent of ACD and
80 percent of ICD4 (Figure 131-2).
EPIDEMIO LO GY
to poison ivy, nickel, and fragrances. 4 ETIO LO GY AND PATHO PHYSIO LO GY
erythematous and pruritic skin lesions resulting from the contact

of skin with a foreign substance.
by a substance, resulting in a skin rash.
substance comes into contact with the skin, and is linked to skin
protein forming an antigen complex that leads to sensitization.
Upon reexposure of the epidermis to the antigen, the sensitized T
cells initiate an in ammatory cascade, leading to the skin changes
seen in ACD.
DIAGNO SIS
HISTO RY
FIGURE 131-1 Alle rg ic contact d e rmatitis to the nicke l in the je ans’
faste ne r and the b e lt b uckle causing e rythe ma, scaling , and hyp e rp ig - Ask about contact with known allergens (i.e., nickel, fragrances,
me ntation. (Use d with p e rmission from Richard P. Usatine , MD.) neomycin, and poison ivy/ oak).
PART 14
746 CHAPTER 131
DERMATO LO GY
FIGURE 131-5 A 12-ye ar-old g irl with atop ic d e rmatitis and alle rg y to
the nicke l in he r p ants’ faste ne r and me tal b e lts whe n she we ars the m.
FIGURE 131-3 Patie nt move d up his ring to show the alle rg ic contact
d e rmatitis se cond ary to a nicke l alle rg y to the ring . (Use d with p e rmis-
sion from Milg rom EC, Usatine RP, Tan RA, Sp e ctor SL. Practical Alle rg y.
Philad e lp hia, PA: Else vie r, Inc; 2004.)
and metal belt buckles (Figures 131-3 to 131-5).

Figure
131-6).
Figure 131-7).
(Figures 131-8 and 131-9).
FIGURE 131-6 Two child re n with lip licking irritant contact d e rmatitis.
FIGURE 131-4 Allergic contact dermatitis to the metal in the bellybutton A. Note the p ostin ammatory hyp e rp ig me ntation. B. Note the p ink
ring of a teenage girl. (Used with permission from Richard P. Usatine, MD.) color and crusting . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 131-9 Alle rg ic contact d e rmatitis to a ne omycin containing

top ical antib iotic. (Use d with p e rmission from Richard P. Usatine , MD.)
A detailed history of products used on the skin may reveal a sus-

pected allergen. Sometimes patch testing results will lead to the
FIGURE 131-7 Alle rg ic contact d e rmatitis to the frag rance in a ne w old girl with mild atopic dermatitis was found to be allergic to a
d e od orant. (Use d with p e rmission from Milg rom EC, Usatine RP, Tan chemical in an over-the-counter product used to moisturize her skin.
RA, Sp e ctor SL. Practical Alle rg y. Philad e lp hia, PA: Else vie r, Inc; 2004.) The history that her mother gave about the child developing a rash to
a particular soap was a clue that the new hand dermatitis may have
distribution of the reaction is linear (Figures 131-10 and 131-11). identify the chemical (Figures 131-15 to 131-17).
chemicals used in hat making can cause ICD on the hands CLINICAL FEATURES
(Figure 131-2). All types of CD have erythema. Although it is not always possible to
distinguish between ICD and ACD, here are some features that might
CD (Figure 131-12). help:
Figures 131-13 and
131-14). ~
~ Dry and ssured skin (Figure 131-2).

~ Indistinct borders.
FIGURE 131-8 Alle rg ic contact d e rmatitis to ne omycin ap p lie d to the

le g of a young woman. He r mom g ave he r trip le antib iotic ointme nt to
p lace ove r a b ug b ite with a larg e nonstick p ad . The contact alle rg y fol-
lows the e xact size of the p ad and only occurs whe re the antib iotic was FIGURE 131-10 A line ar p atte rn of alle rg ic contact d e rmatitis from
ap p lie d . (Use d with p e rmission from Richard P. Usatine , MD.) p oison ivy. (Use d with p e rmission from Jack Re sne ck, Sr., MD.)
PART 14
748 CHAPTER 131
DERMATO LO GY
FIGURE 131-13 Alle rg ic contact d e rmatitis from ne w shoe s. This is

the typ ical d istrib ution found on the d orsum of the fe e t. Patch te sting
re ve ale d that the alle rg y was to thiurams found in rub b e r. (Use d with
family. Clinically, a line of vesicles can occur from brushing against

one of the plants. Also, the linear pattern occurs from scratching
oneself and dragging the oleoresin across the skin with the ngernails
(Figures 131-10 and 131-11).
FIGURE 131-11 Multip le line s of ve sicle s from p oison oak o n the arm Systemic CD is a rare form of CD seen after the systemic adminis-
of this te e n b oy. (Use d with p e rmission from Milg rom EC, Usatine RP,
Tan RA, Spector SL. Practical Allergy. Philad elphia, PA: Elsevier, Inc; 2004.)
tration of a substance, usually a drug, to which topical sensitization
has previously occurred. 6
~ Vesicles and bulla (Figures 131-1 and 131-8).

~ Distinct angles, lines, and borders (Figures 131-8 to 131-12).
showing signs of exudate, weeping, and crusts.

Toxicodendron (Rhus) dermatitis (poison ivy, poison oak, and poison
sumac) is caused by urushiol, which is found in the saps of this plant
FIGURE 131-14 A young man with alle rg ic contact d e rmatitis to a

che mical in his b oots. His b o ots we re hig he r b ut he cut the m d own to
try to alle viate the d iscomfort coming from the b oots hig he r on his le g .
FIGURE 131-12 Contact d e rmatitis to tap e . (Use d with p e rmission (Use d with p e rmission from Milg rom EC, Usatine RP, Tan RA, Sp e ctor
from Richard P. Usatine , MD.) SL. Practical Alle rg y. Philad e lp hia, PA: Else vie r, Inc; 2004.)
PART 14
DERMATO LO GY
FIGURE 131-15 Alle rg ic contact d e rmatitis on the hand s of an 8-ye ar-

old g irl with history of mild atop ic d e rmatitis. Patch te sting ultimate ly FIGURE 131-17 This p ositive p atch te st re sult for Cl+ Me – isothiazoli-
re ve ale d that she was alle rg ic to Cl+ Me – iso thiazolinone . He r mothe r none sho ws small ve sicle s on an e rythe matous b ase . The T.R.U.E. Te st
d iscove re d this was one of the ing re d ie nts in a moisturize r the y we re re ad ing strip is he ld ag ainst the skin using the skin marking s to id e ntify
using on he r skin. He r alle rg ic contact d e rmatitis re solve d once e xp o- the p ositive antig e n. This is the same 8-ye ar-old g irl in Fig ure s 131-15
sure to Cl+ Me – isothiazolinone was e liminate d . (Use d with p e rmission and 131-16. (Use d with p e rmission from Richard P. Usatine , MD.)
to apply to the back (Figure 131-16). There is no preparation
LABO RATO RY STUDIES needed to test for the 35 common allergens embedded into these
strips (Table 131-1 for a list of the 35 allergens). The strips are
The diagnosis is most often made by history and physical examina-
removed in 2 days and read at that time and again in two more days
tion. Consider culture if there are signs of superinfection and there is
(Figure 131-17
a concern for methicillin-resistant Staphylococcus aureus (MRSA). The
information on how to perform the testing and how to counsel
following tests may be considered when the diagnosis is not clear.
patients about the meaning of their results. Any clinician with an
interest in patch testing can easily perform this service in the of ce.
~
of tested patients), thimerosal (5.0%), cobalt (4.8%), fragrance

-
munologic) nor ACD. The latex allergy type of reaction is a type I,
allergens detected using this system. 5
~
antigens. There are a number of dermatologists who create their

own more extensive panels in their of ce. If the suspected aller-
customize the patch testing. Also, personal products, such as

cosmetics and lotions, can be diluted for special patch testing.
~ A meta-analysis of children patch tested for ACD showed the top
ve allergens to be nickel, ammonium persulfate, gold sodium thio-
sulfate, thimerosal, and toluene-2,5-diamine ( p-toluenediamine). 7
be best to not use this standardized patch testing for children.

~
classifying clinical relevance of a positive patch test reaction is:

I -
ing the current episode of dermatitis and improves when the
exposure ceases;
I
allergen;
I
I
FIGURE 131-16 The T.R.U.E. Te st is an e asy-to-use stand ard ize d p atch
te st that is ap p lie d to the b ack using 3 tap e strip s to te st for 35 com- another allergen; and
mon alle rg e ns. This 8-ye ar-old g irl is starting the p roce ss of p atch te st- I
ing to d e te rmine the cause of he r hand d e rmatitis. Hyp oalle rg e nic
tap e is ab out to b e ap p lie d to ke e p the strip s from p e e ling off for from that exposure, or no history of exposure but a de nite posi-
2 d ays. (Use d with p e rmission from Richard P. Usatine , MD.) tive allergic patch test.6
PART 14
750 CHAPTER 131
DERMATO LO GY
TABLE 131-1 Alle rg e ns in T.R.U.E. Te st (Patch Te st for Contact De rmatitis)
Pane l 1.2 Pane l 2.2 Pane l 3.2

1. Nicke l Sulfate 13. p -te rt-Butylp he nol Formald e hyd e Re sin 25. Diazolid inyl ure a
2. Wool Alcohols 14. Ep oxy Re sin 26. Q uinoline mix
3. Ne omycin Sulfate 15. Carb a Mix 27. Tixocortol-21-p ivalate
4. Potassium Dichromate 16. Black Rub b e r Mix 28. Gold sod ium thiosulfate
5. Caine Mix 17. Cl+ Me – Isothiazolinone (MCI/MI) 29. Imid azolid inyl ure a
6. Frag rance Mix 18. Q uate rnium-15 30. Bud e sonid e
7. Colop hony 19. Me thyld ib romo g lutaronitrile 31. Hyd rocortizone -17-b utyrate
8. Parab e n Mix 20. p -Phe nyle ne d iamine 32. Me rcap tob e nzothiazole
9. Ne g ative Control 21. Formald e hyd e 33. Bacitracin
10. Balsam of Pe ru 22. Me rcap to Mix 34. Parthe nolid e
11. Ethyle ne d iamine 23. Thime rosal 35. Disp e rse b lue 106
Dihyd rochlorid e
12. Cob alt Dichlorid e 24. Thiuram Mix 36. 2-Bromo-2-nitrop rop ane -
1,3-d iol (Bronop ol)
The re are 35 alle rg e ns and one ne g ative control at numb e r 9.
that is best diagnosed with histology (e.g., psoriasis). MANAGEMENT

4 SOR
DIFFERENTIAL DIAGNO SIS steroids. This unfortunate situation can be diagnosed with
patch testing.
~ In cases of nickel ACD, we recommend the patient cover the
often a history of other atopic conditions, such as allergic rhinitis metal tab of their jeans with an iron-on patch or a few coats of
and asthma. There may be family history of allergies. However, clear nail polish.
persons with atopic dermatitis are more prone to CD (Figure 4
131-6; Chapter 130, Atopic Dermatitis).
SO R
vesicles, erythema, and scale. Although this is not primarily caused

by contact to allergens, various irritating substances can make it
worse.
-
diate erythema, itching, and possibly systemic reaction after contact
with a known (or suspected) allergen.
resemble CD when it occurs on the hands and feet. Tinea pedis is

usually seen between the toes, on the soles or on the sides of the
feet. CD of the feet is often on the dorsum of the foot and related
to rubber or other chemicals in the shoes (Figures 131-13 and
131-14
for the typical distribution of the scabies infestation to distinguish this

from CD (see Chapter 128, Scabies).
strictly a CD because the dye is injected below the skin, the allergic FIGURE 131-18 Alle rg ic d e rmatitis to the re d d ye in a ne w tattoo.
process is similar (Figure 131-18). (Use d with p e rmission from Jonathan Karne s, MD.)
PART 14
DERMATO LO GY
acute, oozing lesions. 3,4 SO R FO LLO W-UP
high-potency topical steroids such as 0.1 percent triamcinolone to

the rash does not resolve and if patch testing will be needed.
0.05 percent clobetasol, respectively. 4 SOR
anogenital region) lower-potency steroids such as desonide oint- PATIENT EDUCATIO N

ment can minimize the risk of skin atrophy. 3,4 SO R
Avoid the offending agent and take the medications as prescribed to
ICD, but because it is dif cult to distinguish clinically between relieve symptoms.
SO R
PATIENT RESO URCES
Contact Dermatitis www.ncbi.nlm.nih.gov/
The recommended dose is 0.5 to 1 mg/ kg daily for 5 to 7 days, pubmedhealth/ PMH0001872/ .
and if the patient is comfortable at that time, the dose may be -
reduced by 50 percent for the next 5 to 7 days. The rate of reduc-
tion of steroid dosage depends on factors such as severity, duration www.truetest.com/ .
of ACD, and how effectively the allergen can be avoided. 4 SO R
- PRO VIDER RESO URCES
ance of steroids can result in rebound dermatitis. Severe poison ivy/ oak Diagnosis and Management of Contact
is often treated with oral prednisone for 2 to 3 weeks. Avoid using a Dermatitis www.aafp.org/ afp/ 2010/ 0801/ p249.html.
Medrol dose-pack, which has insuf cient dosing and duration.4 SOR
4
www.truetest.com/ .
pimecrolimus) in ACD or ICD has not been well established.
However, one randomized controlled trial (RCT) did demonstrate
that tacrolimus ointment is more effective than vehicle in treating
REFERENCES
chronically exposed, nickel-induced ACD. 8 SOR
West J Med. 1999;171:361-362.
associated with ACD, they are commonly used. Sedation from
more sopori c antihistamines may offer some degree of palliation Practical Allergy
(diphenhydramine, hydroxyzine). 4 SO R
-
biotic that will cover Streptococcus pyogenes and S. aureus. Treat for dermatitis. Am Fam Physician. 2010;82:249-255.
MRSA if suspected. -
- titis: a practice parameter. Ann Allergy Asthma Immunol. 2006;97:
turizers may help soothe irritated skin. 4 SOR S1-S38.
-
J Am
potentially irritating substances such as solvents, soaps, and deter- Acad Dermatol. 2004;51:349-353.
gents. 6,9 SO R
contact dermatitis: an update. Br J Dermatol. 2009;160:946-954.
development of an impaired skin barrier function caused by pro-

responsible for allergic contact dermatitis among children: a
longed wearing of occlusive gloves. 9 SO R
~ There is insuf cient evidence to promote the use of barrier
systematic review and meta-analysis. Contact Dermatitis. 2011;64:
245-257.
creams to protect against contact with irritants. 6,9 SOR
~ After work, conditioning creams can improve skin condition in -
workers with damaged skin. 9 SO R ized clinical trial of 0.1% tacrolimus ointment in a model of
chronic allergic contact dermatitis. J Am Acad Dermatol. 2006;55:
40-46.
cracked skin without exposing the patient to new irritants.

for the prevention, identi cation and management of occupational
If the CD is severe enough, the patient may need to change activi- contact dermatitis and urticaria. Contact Dermatitis. 2010;63:
ties to completely avoid the offending irritant or antigen. 177-186.
CHAPTER 132
132 ECZEMA HERPETICUM

Carla Torre s-Ze g arra, MD
FIGURE 132-1 Ecze ma he rp e ticum in a 16-ye ar-old -b oy with a history

of se ve re atop ic d e rmatitis. Ecze ma he rp e ticum is a se ve re HSV infe c-
tion in a p atie nt with atop ic d e rmatitis. (Use d with p e rmission from
ECZEMA HERPETICUM
FIGURE 132-2 Close up of the eczema herp eticum lesions in the

atop ic p atient in showing clusters of p ap ule s, vesicles and
crusted lesions secondary to HSV. Some of the crusting is se cond ary to
imp etig inized le sions from a S. aureus b acterial superinfection. (Used
with permission from Camille Sab ella, MD.)
FIGURE 132-4 Pe riorb ital e rythe ma and ind uration associate d with
e cze ma he rp e ticum in the same p atie nt as . (Use d with
FIGURE 132-3 Ecze ma he rp e ticum in a 5-month-old infant with

se ve re atop ic d e rmatitis p re se nting with ulce rate d and he mo rrhag ic
le sions along with ve sicle s, p ap ule s and crusts. Viral culture from an
unroo fe d ve sicle yie ld e d HSV. (Use d with p e rmissio n fro m Camille
Sab e lla, MD.)
ECZEMA HERPETICUM
PART 14
756 CHAPTER 133
DERMATO LO GY
133 NUMMULAR ECZEMA EPIDEMIO LO GY

Yu Wah, MD 1
1
PATIENT STO RY
A 2-year-old Hispanic male presents to the clinic with erythematous,

round, moist, crusted lesions on the left thigh (Figure 133-1) and ETIO LO GY AND PATHO PHYSIO LO GY
right arm. His mother noted several small bumps initially, which
developed into coin-shaped lesions over the next few weeks. The
child is scratching them but is otherwise healthy. A KOH preparation in the etiology and pathogenesis is not well established:
of the scraping from the lesions did not show fungal structures. The
child responds well to treatment with topical mid-potency corticoste-
roids, emollients, and dressing in long-sleeve clothes to prevent to bacterial colonization or hematogenous spread of bacterial
scratching the lesions. His nummular eczema resolved in 6 weeks. toxins, 1,3 but an infectious source is not identi ed in most cases
of NE.
-
INTRO DUCTIO N quently weakens the skin barrier function and sensitizes it to
environmental allergens. 4
Nummular eczema (NE) is a type of eczema characterized by circular
or oval-shaped scaling plaques with well-de ned borders. The term
nummular refers to the shape of a coin (Latin for coin is nummus). The fragrances. Allergic or chronic contact dermatitis has been fre-
lesions are typically multiple and most commonly found on the dorsa quently reported to manifest as NE on the dorsa of the hands.
of the hands, arms, and legs. It often overlaps with other clinical -
types of eczema: atopic dermatitis, stasis dermatitis, and asteatotic tions, including interferon and ribavirin therapy for hepatitis C6,7
eczema. 1,2 and isotretinoin. 8 -
ited number of cases.
SYNO NYMS
cases with relapsing NE.
Nummular dermatitis, discoid eczema, microbial eczema, and
orbicular eczema.
DIAGNO SIS
HISTO RY
subsequent development of multiple lesions is often reported.
recurrent.
helpful to tailor the management of NE.
PHYSICAL EXAMINATIO N
papules and vesicles
that coalesce to form circular to oval shape patches and plaques
(Figures 133-2 and 133-3).
scratching (Figure 133-1), weeping and crusting after the vesicles

FIGURE 133-1 A 2-ye ar-old child with nummular e cze ma on the le ft leak (Figures 133-2 to 133-4), and scaling and licheni cation
thig h. The le sion sho ws ab rasions and e xcoriations from scratching . He
has anothe r similar le sion on the rig ht arm. (Use d with p e rmission from in more chronic lesions (Figures 133-5 and 133-6). Excessive
Yu Wah, MD.) weeping and crusting may indicate secondary bacterial infection.
PART 14
NUMMULAR ECZEMA 757
DERMATO LO GY
FIGURE 133-2 Multip le nummular le sions on the d orsum of the hand ,

a common site of nummular e cze ma. The le sions show multip le p ap -
ule s and ve sicle s that coale sce to form coin-shap e d p laq ue s; oozing
and crusting can b e se e n from rup ture d ve sicle s. (Use d with p e rmission
The extensor aspects of the forearm (Figures 133-3 and 133-6) FIGURE 133-4 Sup e rinfe cte d nummular e cze ma he aling on the trunk
of a 2-ye ar-old g irl re ce iving top ical triamcinolone ointme nt and oral
and the lower leg (Figure 133-5), the thighs (Figure 133-1), and ce p hale xin. (Use d with p e rmission from Richard P. Usatine , MD.)
the anks are frequently involved, but NE may be seen in any part
of the body (Figures 133-4, 133-8, and 133-9).

BIO PSY
-
cion of other serious clinical entities (e.g., mycosis fungoides,
psoriasis) or if the diagnosis is uncertain.
FIGURE 133-3 Nummular e cze ma on the fore arm of a young man. FIGURE 133-5 Multip le nummular le sions on the lowe r le g of a
The le sions show multip le p ap ule s and ve sicle s that coale sce to form 15-ye ar-old g irl. Le sions of nummular e cze ma can b e d ry and scaly.
coin-shap e d p laq ue s; oozing and crusting can b e se e n from rup ture d The le sions p re ve nte d the p atie nt fro m shaving he r le g s. (Use d with
ve sicle s. (Use d with p e rmission from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
PART 14
758 CHAPTER 133
DERMATO LO GY
FIGURE 133-6 Nummular e cze ma on the e xte nsor surface of the fore - FIGURE 133-8 Nummular e cze ma on the d orsum of the foot. Co ntact
arms and e lb ows. Thicke ne d , scaly le sions re se mb le p soriatic p laq ue s. d e rmatitis and tine a p e d is are also in the d iffe re ntial d iag nosis. KO H
A b iop sy was p e rforme d to con rm the d iag nosis of nummular p re p aration was ne g ative and the le sions d id re solve with a top ical
e cze ma. (Use d with p e rmission from Richard P. Usatine , MD.) ste roid . (Use d with p e rmission from Richard P. Usatine , MD.)
history of atopy, asthma, or seasonal allergies may help make the

History of exposure to contact allergens at the affected areas can

and vesicles. Vesicles are typically at the periphery of the lesion
compared to NE, where they are also seen in the center. A positive
KOH preparation for hyphae can help with the diagnosis (see
Chapter 123, Tinea Corporis).
surfaces of arms and legs, scalp and sacral areas. Nail changes may MANAGEMENT
area easily accessible to scratching such as the ankle, wrist, and barrier function. SO R
neck (Figures 133-10 to 133-12). -
cation to wet skin is reported as an effective method of skin care in
patients with eczema. SO R
FIGURE 133-7 Nummular e cze ma on the d orsum of the hand and FIGURE 133-9 Nummular e cze ma on the ab d ome n of a young man.
wrist. (Use d with p e rmission from Richard P. Usatine , MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
NUMMULAR ECZEMA 759
DERMATO LO GY
FIGURE 133-10 Liche n simp le x chronicus on the ankle . Note the

liche ni cation of the involve d skin which has b e come thicke ne d with
acce ntuate d skin line s. The re is also p ostin ammatory hyp e rp ig me nta- FIGURE 133-12 Liche n simp le x chronicus on the ne ck of a 15-ye ar-old
tion. (Use d with p e rmission from Richard P. Usatine , MD.) b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
rst line of treatment. A cream preparation may be used if patient severe or acute cases. SO R
compliance is a concern with ointments. SO R
- treatment of moderate to severe childhood NE. 11 This was
crolimus have the bene t of not causing skin atrophy and have been
shown to be effective in many types of eczema. 1 SO R They have
a higher cost compared to topical corticosteroids and have a black
box warning because of a reported risk of malignancies. serious adverse events were observed in this study. 11 SO R
cases. 1,2
has been used in more severe cases. 2 SO R
Topical doxepin is reported to be effective in treatment of pruritus

associated with eczematous conditions and has a favorable safety
pro le. 12 SO R
or associated bacterial infection. SO R

-
ment of eczema and carries a small risk of adverse events. 13 SO R
FO LLO W-UP
Regular follow-up is needed for the patient with chronic, refractory,

or relapsing nummular dermatitis until remission or resolution is
achieved.
PATIENT EDUCATIO N
Hydration and protection of skin form irritants is important. Apply

moisturizer or topical medications immediately after bathing while
the skin is still moist. Avoid strong soaps and use mild fragrance-free
FIGURE 133-11 Liche n simp le x chronicus on the ne ck of a 13-ye ar-old
g irl. Liche n simp le x chronicus is fre q ue ntly found on the ne ck. (Use d soap, or soap alternatives. Avoid tight clothing and fabrics that irritate
with p e rmission from Richard P. Usatine , MD.) the skin.
PART 14
760 CHAPTER 133
DERMATO LO GY
PATIENT RESO URCES

Nummular Dermatitis— irritants. Contact Dermatitis.
www.aad.org/ skin-conditions/ dermatology-a-to-z/
nummular-dermatitis. eczema secondary to interferon alfa-2b plus ribavirin combination
Discoid Eczema— therapy in a patient with chronic hepatitis C virus infection. Arch
www.bad.org.uk/ site/ 811/ Default.aspx. Dermatol.

to peginterferon Alfa-2b and ribavirin combination therapy for
hepatitis C infection. Arch Dermatol.
Nummular Dermatitis—http:// emedicine
treatment. J Am Acad Dermatol.
nummular dermatitis. J Am Acad Dermatol.

REFERENCES
Dermatology a standard technique revisited. Arch Dermatol.
Nummular Dermatitis
-
ment for paediatric discoid (nummular) eczema: a case series of
Australas J Dermatol.
nummular eczema as an overlooked focal infection. J Dermatol.
Arch Dermatol.
eczema: an addition of senile xerosis and unique cutaneous
reactivities to environmental aeroallergens. Dermatology Cochrane Database Syst Rev.
PART 14
URTICARIA AND ANGIO EDEMA 761
DERMATO LO GY
134 URTICARIA AND SYNO NYMS

ANGIO EDEMA Hives.
EPIDEMIO LO GY
PATIENT STO RY
Figure 134-1
3
INTRO DUCTIO N
3

-
-
-
Figures 134-2 134-3
Figures 134-4 134-6
Figures 134-7 134-8
FIGURE 134-1 A young b oy with acute urticaria d ue to trime thop rim-

sulfame thoxazole . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
762 CHAPTER 134
DERMATO LO GY
FIGURE 134-2 Se ve re ang ioe d e ma aro und the e ye s and mouth in a FIGURE 134-4 Cold urticaria d e monstrate d on the face of a young
hig h school g irl. (Use d with p e rmission from Danie l Stulb e rg , MD.) b oy using a 2-minute ap p lication of an ice cub e to the face . This “ice
cub e te st” is d iag nostic as the re action mirrore d the shap e of the cub e
he ld ag ainst the skin. Avoid ing cold and the use of antihistamine s are
the mainstay of tre atme nt. Jump ing into a p ool can le ad to hyp ote n-
DIAGNO SIS sio n and d rowning in the se child re n. Pre scrib e an Ep i Pe n for safe ty.
(Imag e use d with p e rmission from Rob e rt Brod e ll, MD.)
CLINICAL FEATURES
Figure 134-6 Figures 134-2 134-3 -
Figures 134-14 134-15

Figures 134-9 134-11
Figure 134-5
-
Figures 134-12 134-13
FIGURE 134-3 Young b lack woman with ang ioe d e ma afte r b e ing FIGURE 134-5 De rmatog rap hism in a 15-ye ar-old g irl with chronic
starte d on an ang iote nsin-conve rting e nzyme (ACE) inhib itor for e sse n- urticaria. Note the e xag g e rate d trip le re action. (Use d with p e rmission
tial hyp e rte nsion. (Use d with p e rmissio n from Ad rian Casillas, MD.) from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 134-8 Urticaria p ig me ntosa in a 4-month-old b lack b oy. His

FIGURE 134-6 Choline rg ic urticaria showing small whe als. The p atie nt le sions starte d on d ay 2 of life and have p rolife rate d . (Use d with p e r-
would g e t this urticaria afte r e xe rcising . (Use d with p e rmission from mission from Richard P. Usatine , MD.)
Philip C. And e rson, MD.)
Figure 134-11 not

FIGURE 134-7 Urticaria p ig me ntosa on the che st of this 9-month-old FIGURE 134-9 Giant urticaria on the le ft thig h of a 1-ye ar-old b oy with
g irl. She has a p ositive Darie r sig n in which stroking the le sion re sults in some are as that are annular (urticaria multiforme ). No und e rlying cause
e d e ma. (Use d with p e rmission from Richard P. Usatine , MD.) id e nti e d . (Imag e use d with p e rmission from Rob e rt Brod e ll, MD.)
PART 14
764 CHAPTER 134
DERMATO LO GY
FIGURE 134-12 Positive Darie r sig n in which stroking the le sion of

FIGURE 134-10 Chronic urticaria with annular urticarial whe als. (Use d urticaria p ig me ntosum re sults in e d e ma. (Use d with p e rmission from
Figure 134-16
Figure 134-14
MANAGEMENT
Figures
134-5 134-6 134-11 134-12 NO NPHARMACO LO GIC
SOR
Figure 134-3 SO R
Figure 134-16
Figure
134-17 SO R
FIGURE 134-11 Giant urticaria (urticaria multiforme ). Althoug h this

ap p e ars to have targ e ts the re al targ e t le sions of e rythe ma multiforme
have a ce ntral le sion with a scaling or b ullous comp one nt affe cting the
e p id e rmis. The history sug g e sts that this may have b e e n a se rum sick-
ne ss typ e re actio n. (Use d with p e rmission from Milg rom EC, Usatine FIGURE 134-13 Positive Darier sig n in which stroking the le sions of urti-
RP, Tan RA, Sp e ctor SL. Practical Alle rg y. Philad e lp hia, PA: Else vie r; caria p ig me ntosum on the b ack re sulted in erythe ma and ede ma at the
2003; and Danie l Stulb e rg , MD.) site of the stroke. (Use d with p ermission from Richard P. Usatine, MD.)
PART 14
DERMATO LO GY
FIGURE 134-14 He noch-Schönle in p urp ura on the le g of an 11-ye ar-

old g irl. This is a typ e of urticarial vasculitis. (Use d with p e rmission from
FIGURE 134-16 Asymme tric p e ri e xural e xanthe m of child hood o n
the le ft ank of a 9-ye ar-old g irl. This re solve s on its own ove r we e ks or
months and is ofte n misd iag nose d as a contact d e rmatitis or e cze ma.
The se kid s are he althy and asymp tomatic unle ss the y have mild p ruri-
tus. The cause is unknown. (Imag e use d with p e rmission from Rob e rt
Brod e ll, MD.)
SO R
SOR
SOR
ANTIHISTAMINES
SOR -
SOR
-
SOR
SOR
FIGURE 134-17 Urticaria that occurre d within an hour afte r a b oy was

FIGURE 134-15 Urticaria in a young man that was acute and id iop athic. g ive n ib up rofe n to tre at a hig h fe ve r. (Use d with p e rmission from
(Use d with permission from Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
766 CHAPTER 134
DERMATO LO GY
8 SOR -
www.emedicinehealth.com/
hives_and_angioedema/ article_em.htm.
8
-
8 SOR
http:// onlinelibrary.wiley.com/ doi/
10.1111/ j.1398-9995.2009.02178.x/ full.
9 SOR
REFERENCES
Allergy.
SOR
Immunol Allergy Clin

CO RTICO STERO IDS North Am.
Practical Allergy
SO R
J Allergy Clin Immunol.
-
Am
- J Clin Dermatol.
SOR
Expert Opin Pharmacother.

O THERS
-
-
J Dermatolog Treat.
SOR
SOR Br J Dermatol.
-
Ann Emerg Med.
FO LLO W-UP
Ann Allergy Asthma Immunol.
-
Ann Emerg Med.
Br J Dermatol.
Drugs
Today (Barc).
PART 14
SEBO RRHEIC DERMATITIS 767
DERMATO LO GY
SECTIO N 8 PAPULO SQ UAMO US CO NDITIO NS
135 SEBO RRHEIC

DERMATITIS
Me re d ith Hancock, MD
Yoon-Soo Cind y Bae -Harb oe , MD
PATIENT STO RY
A 3-month-old African American boy is brought to the clinic with

white spots on his face for one month (Figure 135-1). The child is
otherwise in great health, eating well and gaining weight. The mother
was negative for HIV during pregnancy. On physical exam, there are
hypopigmented patches on the face especially at the hair line and FIGURE 135-2 Seb orrheic d e rmatitis in a 13-year-old boy demonstrat-
under the eyebrows. There is visible scale in each of these patches. ing con ue nt scaling and erythema along with are as of hyp op ig me nta-
The hypopigmentation occurs secondary to the toxic effect of the tion. Patie nts with more p ig me ntation ofte n show a raise d lateral marg in
reminiscent of the ad vancing b ord er of d e rmatop hyte infe ctions and
Malassezia (Pityrosporum) on the melanocytes (as seen in tinea versi- sub seq ue nt post-in ammatory hyp op ig mentation that can b e te mp orar-
color). The diagnosis of seborrheic dermatitis is made and treatment ily d is g uring . (Imag e used with p ermission from Rob e rt Brodell, MD.)
is begun with appropriate topical agents to treat the in ammation and
the Malassezia. The mother is told to shampoo the infant’s hair with a
selenium-based shampoo every 1 to 2 days and to apply 1 percent
hydrocortisone cream to the hypopigmented areas twice daily for the
next 2 weeks. At a 2-week follow-up, the scale is gone and the
hypopigmentation is resolving.
PATIENT STO RY
A 13-year-old African American boy presented to clinic with a mildly

pruritic central facial rash and scalp dandruff that had persisted for two
years (Figure 135-2). There was no history to suggest an allergic con-
tact dermatitis or drug allergy. On physical exam, con uent scaling
and erythema with areas of hypopigmentation were noted in the naso-
mesial folds and over the eyebrows. Additionally, diffuse scaling and
erythema were noted throughout the scalp. The patient was diagnosed
with seborrheic dermatitis. Patients with more pigmentation often
show a raised lateral margin reminiscent of the advancing border of
dermatophyte infections and subsequent postin ammatory hypopig-
mentation that can be temporarily dis guring. This patient responded
to ketoconazole 2 percent cream applied twice daily to the face and
other non-hair-bearing areas and ketoconazole 2 percent shampoo
twice weekly for his scalp. His hypopigmentation improved over time.
INTRO DUCTIO N
Seborrheic dermatitis is a common, chronic, relapsing dermatitis

FIGURE 135-1 Se b orrhe ic d e rmatitis on the scalp and face with visib le affecting sebum-rich areas of the body. Children and adults, males
hyp op ig me ntation. Note how the hyp op ig me ntation is p articularly vis-
ib le around the hairline and und e r the e ye b rows. (Use d with p e rmission and females may be affected. Presentation may vary from mild ery-
from Richard P. Usatine , MD.) thema to greasy scales, and rarelyas erythroderma. Treatment is
PART 14
768 CHAPTER 135
DERMATO LO GY
targeted to reduce in ammation and irritation, as well as to eliminate

Malassezia fungus, whose exact role is not completely understood.
SYNO NYMS
Seborrhea, seborrheic eczema, dandruff, and cradle cap (pityriasis

capitis).
EPIDEMIO LO GY
in Australia. The highest rate was in the rst 3 months of life,

decreasing rapidly by the age of 1 year, after which it slowly
decreased over the next 4 years. Most (72%) had disease classi ed as
minimal to mild. Cradle cap occurred in 42 percent of the children FIGURE 135-3 Se b orrhe ic d e rmatitis on the face of a 14-ye ar-old b oy.
Note the e rythe ma and scale e sp e cially conce ntrate d around the ce n-
examined, with 86 percent categorized as minimal to mild only. 1 tral face . He also had se b orrhe a of the scalp and acne . (Use d with p e r-
- mission from Richard P. Usatine , MD.)
lescents in Brazil was 11 percent. The prevalence was higher in
persons with white skin and a higher body fat content. 2
brows, forehead, central face, and scalp. Biopsy is not generally indi-
-
cated unless ruling out other possibilities (see the following
section “Differential Diagnosis”).
with AIDS. 3
CLINICAL FEATURES
ETIO LO GY AND PATHO PHYSIO LO GY -
bations.
-
tory dermatitis that is found in sebum-producing areas of the body. (Figure 135-3), in the characteristic seborrheic distribution
(see the following description).
appears to be related to the interplay between host susceptibility,
environmental factors, and local immune response to antigens. 4–6 cold weather.
species of lipophilic yeast of the genus Malassezia; however, Malas-

sezia is considered normal skin ora and unaffected persons also
may be colonized.
Malassezia may produce different
irritants or metabolites on affected skin. 6
RISK FACTO RS
malignancy).
DIAGNO SIS
FIGURE 135-4 Mild se b orrhe ic d e rmatitis with sub tle aking around
The clinical diagnosis is made by history and physical examination. the e ye b rows of a 2-month-old g irl who also has crad le cap . (Use d with
Figures 135-3 and 135-4 reveal erythema and scale across the eye- p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 135-5 Se b orrhe ic d e rmatitis on the face of an infant with FIGURE 135-7 Crad le cap in a he althy infant showing b rown ad he re nt
hyp op ig me ntation around the scalp and ove r the e ye b rows. Hyp op ig - scale ove r the ce ntral scalp . (Use d with p e rmission from Richard P.
me ntation is se cond ary to p ostin ammatory chang e s. (Use d with Usatine , MD.)
(Figure 135-6), external auditory meatus, and under facial hair.

become hyperpigmented or hypopigmented (Figures 135-2, Seborrhea can also occur over the sternum and in the axillae,
135-3, and 135-5). submammary folds, umbilicus, groin, and gluteal creases.
Infants may develop scales on the scalp, known as cradle cap
TYPICAL DISTRIBUTIO N (Figures 135-7 and 135-8). The eyebrows may also be affected
Scalp (i.e., dandruff), eyebrows (Figures 135-4 and 135-5), nasola- (Figure 135-5). Some infants have a wider distribution involving the
bial creases, forehead, cheeks, around the nose, behind the ears neck creases, armpits, leg creases, and groin (Figure 135-9).
pattern of Malassezia furfur (Pityrosporum yeast).
zinc de ciency.
FIGURE 135-8 Wid e sp re ad se ve re se b orrhe ic d e rmatitis with crad le

FIGURE 135-6 Se b orrhe ic d e rmatitis in and around the e ar of a te e n- cap in an infant that also has atop ic d e rmatitis. (Use d with p e rmission
ag e r. (Use d with p e rmission from Richard P. Usatine , MD.) from Richard P. Usatine , MD.)
PART 14
770 CHAPTER 135
DERMATO LO GY
diagnosis of psoriasis (see Chapter 136, Psoriasis).

-
ules, pustules, telangiectasia, and an absence of scales. May also
Chapter 122, Tinea Capitis).
minimal scale.
ne and white and scales with scraping. The Malassezia infection

affects the melanocytes leading to changes in color of the affected
areas (white, pink and brown). As this condition is caused by the
same organism as seborrhea there are many similarities in clinical
FIGURE 135-9 Se b orrhe ic d e rmatitis in the d iap e r are a and skin fold s appearance and treatment (see Chapter 126, Tinea Versicolor).
of the thig hs in an othe rwise he althy infant. (Use d with p e rmission from
demarcated lesion with ne white scale, secondarily impetiginized
lesions may have associated yellow colored crust, not scale.
with signi cant erythema and satellite lesions.
and acral rash as seen in acrodermatitis enteropathica (see Chapter 7,

lesions in the skin, bone marrow, endocrine system, or lungs. Global Health).
It may present with a severe refractory diaper rash that has scat-
tered erythematous papules and a petechial component (Figure MANAGEMENT
135-10). A skin biopsy is needed to make the diagnosis (see
As seborrheic dermatitis is a recurrent, chronic condition, repeated
demarcated plaques distributed over extensor surfaces along with
hair with antifungal shampoos (containing selenium sul de, keto-

conazole, or ciclopirox) several times per week, each time leaving
the lather on the affected areas for several minutes until remission
is attained. Patients may continue to use antifungal shampoo as
maintenance therapy. 5
-
thione (ZPT) are active against the Malassezia and are effective in
the treatment of moderate to severe dandruff. 7,8 SO R
73 percent improvement in the total dandruff severity score com-

pared with 67 percent for ZPT 1 percent at 4 weeks. 8 SO R
of seborrheic dermatitis of the scalp. SO R It is by prescription

only and is expensive.
-
tive for facial seborrheic dermatitis. 11–13 SO R
FIGURE 135-10 Lang e rhans ce ll histio cyto sis in the d iap e r are a
p re se nte d as a d iap e r rash, which d id not re sp ond to tre atme nt. This
re fractory d iap e r rash has scatte re d e rythe matous p ap ule s and a p e te - seborrheic dermatitis and is equivalent to ketoconazole 2 percent
chial comp one nt. A skin b iop sy re ve ale d Lang e rhans’ ce lls. (Use d with cream. 11,14 SO R
p e rmission from Kane KS, Lio P, Stratig os AJ, Johnson RA. Color Atlas
and Synop sis of Pe d iatric De rmatolog y, 2nd e d ition, Fig ure 3-6, Ne w
York, NY: McGraw-Hill, 2009.) for moderate to severe seborrhea in adults. 15,16 SO R However,
PART 14
DERMATO LO GY
because of the potential for harmful side effects of oral antifungals too often will cause a “dry” scalp and need to understand that the scal-
and the limited study of their ef cacy, they are not rst-line treating and aking will improve rather than worsen with more frequent
ments. 5 Oral terbina ne may be considered to treat erythroderma hair washing. It is helpful to explain that the aking is not because the
caused by seborrhea in an adolescent. scalp is dry but secondary to the overgrowth of the fungus that needs
to be washed off the scalp.
Topical corticosteroids are useful in treating associated erythema
and pruritis. 5 5
and should be
used with caution. PATIENT RESO URCES
www.ncbi.nlm
.nih.gov/ pubmedhealth/ PMH0001959/ .
comfort and usability.

on the face, scalp, and other affected areas. 13,17 SO R
http:// emedicine
treatment of seborrheic dermatitis of the face. 15 SO R It is a non-
uorinated low to midpotency steroid that is higher in potency than
hydrocortisone 1 percent. REFERENCES
teenager: common skin conditions in preschool-aged children in Australia:

~ seborrheic dermatitis and pityriasis capitis (cradle cap). Arch
bene cial. SO R Dermatol
O THER TREATMENTS
in male adolescents. Int J Dermatol.
treatment for facial seborrheic dermatitis. SO R In one
study, there was more burning noted with the pimecrolimus than yeasts: a quantitative study of patients presenting with sebor-
19
rhoeic dermatitis. Br J Dermatol. 1995;133(5):694-698.
4. Gaitanis G, Magiatis P, Hantschke M, Bassukas ID, Velegraki A.
in the treatment of seborrheic dermatitis on the face. One suggests The Malassezia genus in skin and systemic diseases. Clin Microbiol
it works better than the vehicle alone and the other found no statis- Rev.
tically signi cant difference from placebo. 21,22 SO R
N Engl J Med.
overview. Br J Dermatol.
in the quadrant-area-severity score compared with 11 percent in
the placebo. Statistically signi cant improvements were also -
observed in the total area of involvement score, the total severity ized, double-blind, placebo-controlled trial of ketoconazole 2%
score, and the itchiness and greasiness components of the patients’ shampoo versus selenium sul de 2.5% shampoo in the treatment
self-assessments. 23 SO R of moderate to severe dandruff. J Am Acad Dermatol. 1993;29:
-
tion consisting of potassium bromide, sodium bromide, nickel sul- -
- conazole 2% and zinc pyrithione 1% shampoos in severe dandruff
ment over placebo. 24 SO R and seborrheic dermatitis. Skin Pharmacol Appl Skin Physiol.
Int
FO LLO W-UP J Dermatol.
Patients with longstanding and severe seborrhea will appreciate a follow-

up visit in most cases. Milder cases can be followed as needed. population: results of a double-blind, vehicle-controlled trial. Int
J Dermatol.
PATIENT EDUCATIO N non-inferiority study between ciclopiroxolamine 1% cream and

ketoconazole 2% foaming gel in mild to moderate facial sebor-
rheic dermatitis. Dermatology.
younger children) to wash the hair and scalp daily with an antifungal -
shampoo. Some patients (or their parents) fear that washing their hair
PART 14
772 CHAPTER 135
DERMATO LO GY
treatment of seborrheic dermatitis. Int J Dermatol. short-term treatment of facial atopic or seborrheic dermatitis.
Australas J Dermatol.
D, Stratigos J. A double-blind trial of treatment of seborrheic

dermatitis with 2% ketoconazole cream compared with 1%
hydrocortisone cream. Br J Dermatol. 1989;121:353-357. dermatitis. A randomized open-label clinical trial. Br J Dermatol.
placebo-controlled, double-blind study on clinical ef cacy of -

ciclopiroxolamine 1% cream in facial seborrheic dermatitis. ized, double-blind, vehicle-controlled ef cacy trial of pimecroli-
Br J Dermatol. mus cream 1% for the treatment of moderate to severe
facial seborrheic dermatitis. J Am Acad Dermatol.
terbina ne in the treatment of multi-site seborrheic dermatitis: a 257-264.
multicenter, double-blind placebo-controlled study. Int J Immuno-
pathol Pharmacol. Dermatology.
the ef cacy and tolerability of oral terbina ne (Daskil) in patients

with seborrheic dermatitis. A multicentre, randomized, investigator- A double-blind study. Int J Dermatol.
blinded, placebo-controlled trial. Br J Dermatol.
854-857. dandruff with 5% tea tree oil shampoo. J Am Acad Dermatol.
47(6):852-855.
vs hydrocortisone acetate cream, 1%, in the treatment of facial -
seborrheic dermatitis: a randomized, investigator-blind, clinical rheic dermatitis using a low dose, oral homeopathic medication
trial. Arch Dermatol. consisting of potassium bromide, sodium bromide, nickel sulfate,
- and sodium chloride in a double-blind, placebo-controlled study.
Altern Med Rev.
PART 14
PSO RIASIS 773
DERMATO LO GY
136 PSO RIASIS in all its myriad presentations so that patients receive the best
possible treatments to improve their quality of life and avoid
Richard P. Usatine , MD comorbidities.
EPIDEMIO LO GY
PATIENT STO RY 1
study in the US.
Figure 136-1
18 years in a German study. 4
INTRO DUCTIO N
A B
FIGURE 136-1 This 5-ye ar-old b oy d e ve lop e d g uttate p soriasis 2 we e ks afte r a stre p throat. A. Note the d rop -like p ink
p laq ue s on the face and ne ck. B. Drop -like p laq ue s on the arms and trunk. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
774 CHAPTER 136
DERMATO LO GY
TABLE 136-1 Factors that Trig g e r and Exace rb ate Psoriasis
FIGURE 136-3
te e nag e g irl. (Use d with p e rmission from Richard P. Usatine , MD.)
RISK FACTO RS
Table 136-1
psoriasis. DIAGNO SIS
Figure 136-2
Figure 136-3
Figures 136-4 and 136-5
A B
FIGURE 136-2 Typ ical p laq ue p soriasis in a 9-ye ar-old child on the A. e lb ows and B. kne e s. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
PSO RIASIS 775
DERMATO LO GY
FIGURE 136-6
ob e se te e nag e p atie nt. This is not a Cand id a infe ction. (Use d with
Figure 136-6
Figure 136-7
plantar psoriasis.
Figure 136-8
FIGURE 136-4 Guttate p soriasis in a 6-ye ar-old g irl se e n 2 we e ks afte r
stre p p haryng itis. Note the small d rop -like p laq ue s on he r b ack along Figure 136-9
with larg e r p laq ue s ove r he r e lb ow. (Use d with p e rmission from Richard
P. Usatine , MD.) Figure 136-10
Figure 136-11
A B
FIGURE 136-5 A. Guttate p soriasis that starte d 2 we e ks afte r stre p p haryng itis in this 7-ye ar-old b oy. The salmon p atche s of g uttate p soriasis are
B. O the r g uttate p laq ue s are visib le on the che st. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
776 CHAPTER 136
DERMATO LO GY
FIGURE 136-7 Plantar p soriasis in a 3-ye ar-old g irl who also has p so-
riasis on he r hand s and in he r nails. Note that the wid e sp re ad e rythe ma
and scale could b e mistake n for tine a p e d is. (Use d with p e rmission
FIGURE 136-8 Erythrod e rmic p soriasis b e ing tre ate d in a young g irl.
This young g irl was cove re d with e rythe matous p soriasis from he ad to
toe p rior to b e ing starte d on syste mic tre atme nt in the hosp ital. (Use d
A B
FIGURE 136-9 -
te d for a p re sume d infe ction and the n d e ve lop e d p ustule s. He was starte d on cyclosp orine as an inp atie nt and the n transitio ne d to
acitre tin as an outp atie nt. Note the cluste rs of p ustule s and the e xfoliation of skin at the b ord e rs of the involve d are as. A.
are visib le on the lowe r le g . B. Pustule s on the othe r le g are o n the e d g e of an are a of e rythe ma. (Use d with p e rmissio n from Emily
Be cke r, MD.)
PART 14
PSO RIASIS 777
DERMATO LO GY
FIGURE 136-10 Nail p itting from p soriasis in a 3-ye ar-old g irl. This is FIGURE 136-12 Guttate p soriasis in a 17-ye ar-old young African te e n
the same g irl with p lantar p soriasis in Fig ure 136-7. (Use d with p e rmis- following an e p isod e of stre p p haryng itis. Note how the small p laq ue s
sion from Richard P. Usatine , MD.) are a silve ry g ray color rathe r than the e rythe ma se e n in lig hte r p ig -
me nte d ind ivid uals. (Use d with p e rmission from Richard P. Usatine , MD.)
Plaq ue p soriasis Figure 136-15
Figures 136-2 phenomenon.
Scalp p soriasis
Figure 136-3
plaque psoriasis.
Guttate p soriasis
Figure 136-14
Figure 136-16
FIGURE 136-11 Psoriatic arthritis that has b e come crip p ling to this
p atie nt. Note the swan-ne ck d e formitie s. Psoriatic arthritis should b e
d iag nose d and tre ate d b e fore it g e ts to this stag e . (Use d with p e rmis- FIGURE 136-13 Plaq ue psoriasis with hyp op ig mentation in this 12-ye ar-
sion from Richard P. Usatine , MD.) old ob e se b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
778 CHAPTER 136
DERMATO LO GY
FIGURE 136-14 FIGURE 136-16 Guttate p soriasis in an ob e se 8-ye ar-old g irl. Afte r
also has scalp p soriasis. (Use d with p e rmission from Richard P. Usatine , many atte mp ts to tre at this with top ical corticoste roid s and ultraviole t
MD.) lig ht the rap y she nally cle are d with e tane rce p t. (Use d with p e rmission
Palmar-p lantar (p almop lantar) p soriasis
childhood. Figure 136-7

other parts of the hands and feet.
Figures 136-1 and 136-5
Inve rse p soriasis
Figure 136-6
inverse refers to the fact that the distribution is not on
Erythrod e rmic p soriasis
Figure 136-8
Pustular p soriasis
Figure 136-9
Figure 136-17
FIGURE 136-15 Plaq ue p so riasis with annular p atte rns on the trunk of
-
tory hyp op ig me ntation. (Use d with p e rmission from Richard P. Usatine ,
MD.)
PART 14
PSO RIASIS 779
DERMATO LO GY
disease.
DISEASE SEVERITY
~ Figure 136-18
FIGURE 136-17 Ge ne ralize d p ustular p soriasis in a 2-ye ar-old b oy not

known to have p soriasis b e fore this p re se ntation. The child had fe ve r
and was hosp italize d for d iag nosis and tre atme nt. Note the larg e are as
are b e g inning to coale sce into lake s of p us and the re is d e sq uamation

starting to occur. (Use d with p e rmission from John C. Browning , MD.) LABO RATO RY STUDIES
punch around an intact pustule is preferred.
IMAGING
may be in an erythrodermic state or may have residual lesions. 1
Nail p soriasis
Figure 136-10
Psoriatic arthritis
dactylitis.
Figure 136-11
FIGURE 136-18 Wid e sp re ad p laq ue p soriasis in the initial p re se ntation

of p soriasis in a te e nag e male . He also had se ve re p ain in his fe e t and
ankle s from p soriatic arthritis. His d ise ase was ultimate ly controlle d with
a b iolog ic ag e nt. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
780 CHAPTER 136
DERMATO LO GY

plaques on the scalp and the plaques often cross the hairline. Sebor
ulosquamous eruption similar to psoriasis. Secondary syphilis often
MANAGEMENT
Figure 136-19
Choice of top ical ve hicle s
best.
as directed.
be covered by insurance.
Top ical tre atme nts

FIGURE 136-19 Liche n simp le x chronicus on the ne ck of a 13-ye ar-old Table 136-2
Hisp anic fe male . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
PSO RIASIS 781
DERMATO LO GY
TABLE 136-2
Psoriasis Using Top ical The rap ie s 1
St re ng t h o f Le ve l o f
Ag e nt Re co mme nd at io n Evid e nce
psoriasis. SO R
A
(hig he st p ote ncy)
B SO R
- A
roid s (me d ium SOR
p ote ncy)
A 14 SOR
corticoste roid s
(lowe st p ote ncy)
combination to reduce irritation and increase ef cacy. SOR
A
Tazarote ne A
Tacrolimus and B
p ime crolimus
SO R
Anthralin C 11
Coal tar B does not support the use of coal tar alone or in combination at this
time. 11 SO R
Comb ination corticoste - B
roid and salicylic acid
Comb ination corticoste - A
roid and vitamin D
analog
Comb ination corticoste - A Figures
roid and tazarote ne 136-6 to 136-14 SO R
Comb ination tacrolimus B

SO R
and salicylic acid
Ad ap te d from Me nte r A, Korman NJ, Elme ts CA, e t al; Ame rican

Acad e my of De rmatolog y. Guid e line s of care for the manag e -
me nt of psoriasis and p soriatic arthritis. Se ction 3. Guid e line s of plaque. SO R
care for the manage me nt and tre atme nt of p soriasis with topical
the rap ie s. J Am Acad De rmatol. 2009;60(4):643-659.
Photothe rap y
SO R
11 SO R
SO R
SO R
PART 14
782 CHAPTER 136
DERMATO LO GY
and side effects. SO R

SO R
SOR
both males and females.

Syste mic
Table 136-3 summa
SO R
SO R Serum creatinine and blood pressure should be monitored
be the systemic treatment of choice.
SO R
SO R
29
TABLE 136-3
Classi cat io n/
Drug Name Me chanism o f Act io n Co mme nt s
Acitre tin O ral re tinoid
Avoid in g irls as it is te ratog e nic and has a long half-life .
Cyclosp orine O ral calcine urin Fast-acting syste mic d rug that is use d rst-line for p ustular p soriasis or
inhib itor e rythrod e rmic p soriasis.
For inte rmitte nt use in p e riod s up to 12 wk as a short-te rm ag e nt to control a
but has bee n used in childre n off labe l for atopic dermatitis and psoriasis.
b iosynthe sis
ove r age 2 but not for cutane ous psoriasis alone .
Ad alimumab TNF inhib itor
cutane ous p soriasis alone .
Etane rce p t TNF inhib itor
cutane ous p soriasis alone . Commonly use d as a rst-line syste mic d rug for
chronic p laq ue p soriasis and p soriatic arthritis. Ap p rove d in Europ e for
child re n ag e d 8 ye ars and ove r for the tre atme nt of se ve re p laq ue p soriasis.
arthritis is one typ e .

PART 14
PSO RIASIS 783
DERMATO LO GY
malformations.
riasis. SO R
SO R
SOR
Biolog ic ag e nts
SO R
psoriasis in adults. See Table 136-3
Table 136-3
for plaque type psoriasis.
Gold
Scalp
tive and a topical potent steroid.

mechanism of action that leads to safety concerns. Safety concerns
sis.
Guttate p soriasis
SOR
available. SOR
Inve rse p soriasis

Me thotre xate ve rsus b iolog ic ag e nts 25
Figure 136-6
SO R Some patients did
this may improve over time.
Palmar-p lantar p soriasis
Erythrod e rmic/ g e ne ralize d p soriasis

THERAPY BY TYPE O F PSO RIASIS
Plaq ue typ e
apy. SOR
most severe erythrodermic psoriasis.
PART 14
784 CHAPTER 136
DERMATO LO GY
Pustular p soriasis TABLE 136-4
SOR
REFERRAL
d e ve lop me nts
Psoriasis Found ation
PRO GNO SIS
Arch Dermatol.
http:// archderm.ama-assn.org/ cgi/
content/ short/ 148/ 1/ 95.
of the disease.
FO LLO W-UP www.guidelines.gov/

content.aspx?id =14572&search=psoriasis.
www.psoriasis.org/
health-care-providers/ treating-psoriasis.
Psoriasis http// emedicine.medscape.com/
article/ 1943419.
Guttate Psoriasis http// emedicine.medscape
REFERENCES
J Am Acad Dermatol.
PATIENT EDUCATIO N
J Am
Acad Dermatol.
J Am Acad Dermatol.
mum quality of life. Table 136-4 lists discussion points.
PATIENT RESO URCES

www.psoriasis.org/ . G Ital Dermatol Venereol.
www.psoriasis.org/
learn_children.
www.psoriasis-association.org.uk/
pages/ view/ about-psoriasis/ children-and-
psoriasis.
Z Rheumatol.
PART 14
PSO RIASIS 785
DERMATO LO GY
Therapy of Moderate-to-Severe Psoriasis.

J Eur Acad Dermatol Venereol.
J Dermatol.
Pediatr J Am Acad Dermatol

Dermatol.
ment on psoriasis therapies. J Am Acad Dermatol. J Am Acad Dermatol.
Can Fam Physician.

ence. J Am Acad Dermatol.
Arch
Dermatol Res.
ment of psoriasis. Arch Dermatol.
dermatoses in adults and adolescents. J Am Acad Dermatol. J Eur Acad Dermatol Venereol.
Arch Dermatol.
J Am Acad Dermatol.
ments for psoriasis. Dermatol Online J. Clin Rev Allergy Immunol.
Br J Dermatol.
J Am Acad Dermatol.
tients. Pediatr Dermatol.
N Engl
J Am Acad
J Med.
Dermatol.
plaque psoriasis. Eur J Dermatol.

J Drugs Dermatol.
psoriasis. Arch Dermatol.

Br J Dermatol.
plaque psoriasis. Br J Dermatol.
J Am Acad Dermatol.
treatments used. J Eur Acad Dermatol Venereol.
psoriasis. J Am Acad Dermatol.
J Am Acad Dermatol.
J Am Acad Dermatol.
PART 14
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137 PITYRIASIS RO SEA

David He nd e rson, MD
PATIENT STO RY
Figures 137-1
137-3
FIGURE 137-2 Scaling le sions se e n on the b uttocks of the same te e n

as in Fig ure 137-1. Note how some of the le sions are annular. (Use d
1
INTRO DUCTIO N
4
EPIDEMIO LO GY
Chlamydophila pneumoniae, Mycoplasma pneumoniae, and Legionella
1
pneumophila
FIGURE 137-1 Pityriasis rose a in a 17-ye ar-old . Le sions are ofte n FIGURE 137-3 Close -up of le sion showing collare tte scale . Note how
conce ntrate d in the lowe r ab d ominal are a. (Use d with p e rmission from the le sions can b e annular with some ce ntral cle aring . (Use d with
Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
PART 14
PITYRIASIS RO SEA 787
DERMATO LO GY
DIAGNO SIS
CLINICAL FEATURES
herald patch
4
Figures 137-4 137-6
Figures 137-4 137-5
FIGURE 137-5 Pityriasis rose a in a 13-ye ar-old b oy. Arrow p oints to

he rald p atch. (Use d with p e rmission from Richard P. Usatine , MD.)
Figure 137-3 TYPICAL DISTRIBUTIO N
r Christmas tree Figure 137-7
Figures 137-8 137-9
FIGURE 137-4 Pityriasis rose a with p romine nt p ink he rald p atch on FIGURE 137-6 Pityriasis rose a in a 15-ye ar-old b oy with the he rald
the ab d ome n of this ove rwe ig ht te e nag e r. (Use d with p e rmission from p atch on the ne ck ne ar the hairline . (Use d with p e rmission from Richard
Richard P. Usatine , MD.) P. Usatine , MD.)
PART 14
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FIGURE 137-7 Pityriasis rose a in a 16-ye ar-old b oy. The scaling le sions
follow skin line s and re se mb le a Christmas tre e . (Use d with p e rmission FIGURE 137-9 Pityriasis rose a on the che st and ab d ome n of this
from E.J. Maye aux, Jr., MD.) young g irl. While the le sions are sub tle , close -up e xamination re ve als a
trailing scale p atte rn. (Use d with p e rmission from Emily Be cke r, MD.)
Figures 137-10 137-11
FIGURE 137-10 Pityriasis rose a with an inve rse p atte rn. Note how
FIGURE 137-8 Pityriasis rose a in a 12-ye ar-old b oy showing classic the re is a hig he r d e nsity of le sions on the le g s. Rap id p lasma re ag in
scaling le sions across the che st and ab d ome n. Small annular le sions (RPR) was ne g ative and the d iag nosis was con rme d with a p unch
are visib le . (Use d with p e rmission fro m Je ffre y Me ffe rt, MD.) b iop sy. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
PITYRIASIS RO SEA 789
DERMATO LO GY
MANAGEMENT
SO R
SO R
SO R
FIGURE 137-11 Pityriasis rose a with an inve rse p atte rn on the arms
with p romine nt e rythe matous le sions. (Use d with p e rmission from the FO LLO W-UP
Unive rsity of Te xas He alth Scie nce s Ce nte r, Division of De rmatolog y.)
Figures 137-10
PATIENT EDUCATIO N
PATIENT RESO URCES

Pityriasis Rosea—www.mayoclinic.com/
spaghetti-and-meatball Pityrosporum health/ pityriasis-rosea/ DS00720
Pityriasis Rosea: Topic Overview—www.webmd.com/
skin-problems-and-treatments/ tc/ pityriasis-rosea-
topic-overview

Pityriasis Rosea in Emergency Medicine—http://
emedicine.medscape.com/ article/ 762725
Pityriasis Rosea—
www.aad.org/ skin-conditions/ dermatology-a-to-z/
pityriasis-rosea
PART 14
790 CHAPTER 137
DERMATO LO GY
REFERENCES
Am Fam Physician. J Am Acad
Dermatol.
Curr Opin Pediatr. J Drugs Dermatol.
West J Med. Pediatrics.

PART 14
LICHEN PLANUS 791
DERMATO LO GY
LICHEN PLANUS
Rob e rt Kraft, MD

PATIENT STO RY
Figure 138-1
1
INTRO DUCTIO N
1
RISK FACTO RS
EPIDEMIO LO GY 11
DIAGNO SIS
CLINICAL FEATURES2,8
Figure 138-2
Figure 138-3
Figure 138-4
Figure 138-5
Figure 138-5
~ Figure 138-6
PART 14
792
DERMATO LO GY
Figure 138-7 ~
Figure 138-8 ~
~
Figure 138-10
~
~ Figure 138-9 ~
Figure 138-9
~ ~
~
PART 14
LICHEN PLANUS 793
DERMATO LO GY
Figure 138-1
Figures 138-6
138-11 Figure 138-12

BIO PSY
~
PART 14
LICHEN PLANUS 795
DERMATO LO GY
PATIENT RESO URCES

http:// familydoctor.org/ 600.xml
~
SO R www.mdjunction.com/
~
lichen-planus
http:// bcdwp.web
SO R .tamhsc.edu/ iolpdallas/
~

SO R
Am Fam
~
Physician. www.aafp.org/
SOR
afp/ 2011/ 0701/ p53.html# afp20110701p53-b14
SO R REFERENCES
~
SOR Fitzpatrick’s Color Atlas and Synopsis of Clinical

~
Dermatology
SO R
~
Ann Dermatol.
SO R
~
Int J Dermatol.
SOR
~
SOR Br J Dermatol.
PRO GNO SIS Acta DermVenereol.
Pediatr Dermatol.
Clinical Dermatology: A Color Guide to Diagnosis and

Therapy
FO LLO W-UP Arch Dermatol.
Pediatr Dermatol.
Pediatr Dermatol.
Ann
DermatolVenereol.
Hurwitz Clinical Pediatric Dermatology:ATextbook
of Skin Disorders of Childhood and Adolescence,
PATIENT EDUCATIO N
Acta DermVenereol.
PART 14
796
DERMATO LO GY
J Oral Sci. Br J
Dermatol.
JAm
Acad Dermatol. J Periodontol.
Oral Surg Br J Dermatol.

Oral Med Oral Pathol Oral Radiol Endod.
Arch Dermatol.
J Coll Physicians Surg Pak
J Clin Periodontol.
Dermatol Ther.
J Oral Sci.
J Oral Pathol Med.

Cutis.
Photodermatol
Br J Dermatol.
Photoimmunol Photomed.
Int J Oral Maxillofac Surg.

J Oral Pathol Med.
Photomed Laser Surg

Pediatr Dent.
LICHEN NITIDUS AND LICHEN STRIATUS
139 LICHEN NITIDUS AND

LICHEN STRIATUS
Michae la R. Mare k, MD
Cathe rine Kowale wski, DO
FIGURE 139-2 Liche n striatus with a curviline ar con g uration of p ink,

slig htly scaly, at-top p e d p ap ule s o n the up p e r e xtre mity of a young
g irl. (Use d with p e rmission from Richard P. Usatine , MD.)
dermal junction. Both conditions can present in a linear array; lichen

) Lichen striatus—Linear lichenoid dermatosis, laschko inear
and lichen striatus ( cquired n ammatory kin ruption (BLAISE).
and young adults.
).
FIGURE 139-1 Liche n nitid us with se ve ral line arly arrang e d g roup s of
tiny, skin-colore d p ap ule s amid st a b ackg round of scatte re d p inp oint
p ap ule s on the trunk of a child . The line arly arrang e d g roup s of p ap -
ule s are se cond ary to scratching (Ko e b ne r p he nome non). (Use d with
p e rmission from John Browning , MD.)
CHAPTER 139
FIGURE 139-3 Liche n striatus with a Blaschkoid d istrib ution of p ink, FIGURE 13 9-4 Liche n nitid us with scatte re d 1 to 2mm shiny, skin-
slig htly scaly p ap ule s on the le g of an 11-ye ar-old g irl. (Use d with colore d , at-top p e d p ap ule s of the trunk of a 7-ye ar-old Hisp anic b oy.
p e rmission from Richard P. Usatine , MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
monly in the spring and summer.
rippling.
( ).
SALE (summertime actinic lichenoid eruption) or lichen nitidus
FIGURE 139-5 Close -up vie w of liche n nitid us with scatte re d skin-
( and colore d , at-top p e d p ap ule s on the trunk. (Use d with p e rmission from
appear more red. Richard P. Usatine , MD.)
FIGURE 139-6 Lichen nitidus showing skin-colored, at-top ped papules

in a line ar array across mid -b ack of an ad ole sce nt. This is an e xamp le
of Koe b ne rization. (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 139-7 Liche n striatus close -up sho wing a line ar b and of p ink,
scaly p ap ule s. (Use d with p e rmission from Richard P. Usatine , MD.)
loid cells clutched in hyperplastic rete.
).
Lichen striatus usually presents as a single, unilateral streak along

and ).
),
( ).
FIGURE 139-8 Liche n striatus with skin-colore d to p ink, slig htly scaly
p ap ule s coale scing into a line ar p laq ue on the up p e r e xtre mity of a
Imaging studies are not indicated. young g irl. (Use d with p e rmission from Richard P. Usatine , MD.)
CHAPTER 139
FIGURE 139-9 Liche n striatus with hyp op ig me nte d to p ink, at- FIGURE 139-11 Liche n striatus with hyp op ig me nte d to p ink, at-
top p e d p ap ule s in a Blaschkoid d istrib ution on the le g of an infant. top p e d p ap ule s in a Blaschkoid d istrib ution on the trunk of a 13-ye ar-
(Use d with p e rmission from Richard P. Usatine , MD.) old b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
papules coalescing into linear plaques.

Atopic Dermatitis).
( and ).
FIGURE 139-12 Ke ratosis p ilaris on the up p e r arm of this young g irl.

FIGURE 139-10 Liche n striatus on one arm with hyp op ig me nte d to Ke ratosis p ilaris most ofte n affe cts the e xte nsor surface of the e xtre mi-
p ink, at-top p e d p ap ule s in a Blaschkoid d istrib ution. (Use d with p e r- tie s, unlike liche n nitid us, which has a p re d ile ction for the e xural sur-
mission from Richard P. Usatine , MD.) face s of the arms. (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 139-13 Ke ratosis p ilaris on the b ack of this 17-ye ar-old b oy.
The folliculoce ntric skin-colore d to p ink p ap ule s of ke ratosis p ilaris
can also b e se e n on the b ack. Liche n nitid us is more like ly to occur on its spontaneous resolution. As per the preceding, precautions must
the ante rior trunk althoug h it too can occur on the b ack. (Use d with
regression.
practical at this time.
lichen nitidus. patients to ensure that their pruritus is adequately controlled.

PART 14
JUVENILE XANTHO GRANULO MA 803
DERMATO LO GY
SECTIO N 9 BENIGN NEO PLASMS
140 JUVENILE patients were found to have systemic involvement in a retrospective

2
XANTHO GRANULO MA
maximum risk are 2 years of age or younger, have multiple skin
O lvia Re ve lo, MD 3
involving the eye are complicated by blindness usually from
hyphema or glaucoma. 4
-
PATIENT STO RY
leukemia (CML), urticaria pigmentosa, insulin-dependent diabetes
A 2-year-old healthy Caucasian male is brought in by his mother for mellitus, aquagenic pruritis, and possibly cytomegalovirus infection.
evaluation of a solitary mass-like lesion that developed on his scalp
over the past couple of months. The nodule was asymptomatic. His risk of developing CML. 1
mother denies other symptoms or medical problems. Physical exami- 4
nation was normal except for a 1cm yellow, dome-shaped, smooth

nodule on scalp apex (Figure 140-1). Clinical diagnosis of juvenile
xanthogranuloma was made and mother was given reassurance that SYNO NYMS
lesion would regress spontaneously over the next months.
congenital xanthoma tuberosum, xanthoma neviforme, and juvenile

INTRO DUCTIO N
giant-cell granuloma.
Langerhan cell, histiocyte proliferation disorder. EPIDEMIO LO GY

papules involving the upper body, although many variants are
known to exist. under reported. The relative incidence from a retrospective
2,5
lesions generally resolve spontaneously within months to years.

cases diagnosed by age 1, and 15 percent of cases presenting at birth.4
involvement of the central nervous system, liver, spleen, lungs,
eyes, oropharynx, and muscle. 1 Only 5 patients (3.9%) of 129 between 1.5 to 4: 1 male to female ratio. 1
and histiologic criteria since there is a mixed pattern among the

non-Langerhans cell histiocyte proliferation disorders with many
authorities considering them all a spectrum of the same disorder. 2,4
DIAGNO SIS
CLINICAL FEATURES
small nodular form with multiple pink, 2 to 5mm, dome-shaped

FIGURE 140-1 Juvenile xanthogranuloma on the scalp of a 2-year-old
boy. Note the yellow color. (Used with permission from Richard P. Usatine, papules that become red-brown and later turn yellow. They mainly
MD.) affect the upper trunk (Figure 140-2).
PART 14
804 CHAPTER 140
DERMATO LO GY
FIGURE 140-2 Multip le nod ular juve nile xanthog ranuloma on the FIGURE 14 0-4 So litary juve nile xantho g ranulo ma o n the face o f a
trunk of a 20-month-old African Ame rican b oy. Note the p ink coloration 2.5 ye ar old b oy with ob vious ye llow coloration. (Use d with p e rmission
at an e arly stag e of d e ve lop me nt. (Use d with p e rmission from Richard P. from Richard P. Usatine , MD.)
Usatine , MD.)
couple of 1 to 2 cm nodules develop (Figure 140-3). DIFFERENTIAL DIAGNO SIS
proliferating disorders such as

DISTRIBUTIO N ~ Langerhan Cell Histiocytosis—These infants typically present
Figure 140-4), with refractive scalp seborrheic-like dermatitis associated with

neck, upper torso, upper and lower extremities, and rarely in the -
oral mucosa. quently associated with systemic symptoms such as bone lesions,
hepatosplenomegaly, and diabetes insipidus (see Chapter 214,
LABO RATO RY TESTING Langerhans Cell Histiocytosis). 5,8,9
Figures 140-5 ~
and 140-6 involves older children and even adults and present as recurrent,
multiple, red to brown papules over upper trunk, face, and
IMAGING proximal extremities. These lesions may leave a hyperpigmented
scar behind. 4,5
symptoms.
FIGURE 140-3 Solitary juve nile xanthog ranuloma on the trunk with
ove rlying scale and a re d -b rown color. De rmato b roma is on the d iffe r-
e ntial d iag no sis. (Use d with p e rmission from We inb e rg SW, Prose NS, FIGURE 140-5 Juve nile xanthog ranuloma on the scalp of a 2-ye ar-old
Kristal L, Color Atlas of Pe d iatric De rmatolo g y, 4th Ed ition, Fig ure b oy. Note the ye llow color and the te lang ie ctasias. This was b iop sy
15-29, McGraw-Hill, 2008.) p rove n. (Use d with p e rmission fro m Richard P. Usatine , MD.)
PART 14
JUVENILE XANTHO GRANULO MA 805
DERMATO LO GY
A B
FIGURE 140-6 A. Six-month-old g irl p re se nte d with g rowing tumor on he r trunk. No ye llow color was visib le within the d ark skin of the tumor.
B. Ye llow color of juve nile xanthog ranuloma visib le afte r shave b iop sy using local ane sthe sia. (Use d with p e rmission from Richard P. Usatine , MD.)
erythematous macules/ papules on the face, and may also appear MANAGEMENT
on the ears, neck, trunk and upper extremities (Figure 140-7).4,5
~
cutaneous and mucous membrane xanthomas along with diabetes usually a self-limited proliferation and requires no therapy.
involve the face along with exural and intertriginous skin. 4,5 no other organ is involved and there is no other risk associated
with other disorders, then patient is given reassurance with
Figure 140-3), keloid, and pyogenic granu-
6 years. SO R
loma. 4 Histologic examination may be the only way to differentiate
between entities.
specialist for monitoring, resection or other ablative therapy is
indicated. SO R
(i.e., Cladribine), high dose prednisone, and cyclosporine or

radiation therapy for systemic cases. 4,8 SO R
indications. SO R
may be consider in patients 2 years old or younger, at time of diag-

noses, or in patients that have multiple lesions because they may be
at increased risk. 3,5 SO R
PRO GNO SIS
-
neous resolution of lesions without scarring. When there is systemic
involvement prognosis is variable depending on degree of disease and
organs involved.
FO LLO W-UP
FIGURE 140-7 Be nig n ce p halic histiocytosis on the face of 8-ye ar-old

b oy, b iop sy p rove n. (Use d with p e rmission from Richard P. Usatine , MD.) or ocular symptoms as needed.
PART 14
806 CHAPTER 140
DERMATO LO GY
PATIENT EDUCATIO N
American Journal of Surgical
Pathology
-
lesions will resolve with little to no scar. At times nodules may
Journal
of American Academy of Dermatology. 1996;34(3):445-449.
emollients (Figure 140-3). Lesions are usually asymptomatic.
PATIENT RESO URCES
uptodate.com/ contents/ juvenile-xanthogranuloma-jxg. Accessed

www.jxgonlinesupport.org/ p/ home.html.
www.histio.org/
. Journal of
page.aspx?pid=391.
American Academy of Dermatology
Current Problems in
Dermatology
http:// emedicine.medscape.com/
article/ 1111629-overview.
xanthogranuloma. Two case reports. Dermatology
www.dermnetnz.org/ lesions/
xanthogranuloma.html.
and Langerhan Cell Histiocytosis. Journal of American Academy of
Dermatology
REFERENCES
Seminars in Cutaneous Medicine

Journal of Pediatrics.
and Surgery
PART 14
KELO IDS 807
DERMATO LO GY
141 KELO IDS overproduction of extracellular matrix and dermal broblasts that
have a high mitotic rate.
SYNO NYMS
PATIENT STO RY Cheloid.
A large keloid (Figure 141-1A) has been present on the upper ear of
this 14-year-old boy for more than 2 years, since he experienced EPIDEMIO LO GY
trauma to this area. The keloid was excised in the of ce with local
anesthetic and the defect sutured using 5-0 Prolene (Figure 141-1B).
The cosmetic result was excellent and the patient was happy. keloids. Sixteen percent of black persons reported having keloids in
a random sampling. 1
INTRO DUCTIO N
are more common in young adult women—probably secondary to
Keloids are benign dermal broproliferative tumors that form in a higher rate of piercing the ears (Figure 141-2). 2
2,3
scar because of altered wound healing. They form as a result of
normal wound-healing process in the spectrum of broproliferative

disorders.
subjected to high skin tension such as over the sternum.
A B
FIGURE 141-1 A. A larg e keloid has bee n p resent on the upp e r e ar of

this 14-year-old b oy for more than 2 years, since he experienced trauma
to this area. B. The keloid was e xcised in the of ce with local anesthetic
and the de fect sutured using 5-0 Prolene . The cosmetic result was excel- FIGURE 141-2 A ke loid on the e arlob e that starte d from p ie rcing the
lent. (Used with p ermission from Richard P. Usatine, MD.) e ar. (Use d with p e rmissio n from Richard P. Usatine , MD.)
PART 14
808 CHAPTER 141
DERMATO LO GY
DIAGNO SIS
CLINICAL FEATURES
around the scar.
other glandular tissue.
brownish red or bluish and then pale as they age. 4
FIGURE 141-3 Two ke loid s on the b ack of this young African Ame rican TYPICAL DISTRIBUTIO N
woman. (Use d with p e rmission from Richard P. Usatine , MD.)
neck, earlobes, and wounds that cross skin tension lines.
beyond the scar margin. Burns and other injuries can heal with a LABO RATO RY TESTING
keloid in just one portion of the area injured.
appearance is usually distinctive and clear.
more likely to develop keloids.
RISK FACTO RS3
the site of original injury.
(Figure 141-3). -
licles of the posterior neck that results in keloidal scarring (Figure
141-5). Although the scarring is similar to keloids the location and
usually found on the legs or arms. They may umbilicate when the
surrounding skin is pinched. These often have a hyperpigmented
Figure 141-4). halo around them and are less elevated than keloids.
FIGURE 141-5 Acne ke loid alis nuchae on the p oste rior ne ck of

FIGURE 141-4 This ke loid forme d at the site of a b e lly b utton p ie rc- this young Hisp anic man. (Use d with p e rmission from Richard
ing . (Use d with p e rmission from Richard P. Usatine , MD.) P. Usatine , MD.)
PART 14
KELO IDS 809
DERMATO LO GY
SURGICAL
MANAGEMENT
treat smaller keloids (e.g., secondary to acne) with similar success
to other therapies. 3,12 SO R
(pain and pruritus) and concerns about appearance.
thaw. Then it is injected with triamcinolone acetate (10 to 40 mg/

based therapy exists and recommended choosing treatment based
SO R
on cost and adverse effect pro le. 5
NO NPHARMACO LO GIC
injection can be repeated in 1 month to decrease the chance of

recurrence. 8 SO R
There is only weak evidence of a bene t of silicone gel sheeting as
prevention for abnormal scarring in high-risk individuals. SO R
sutures (Figure 141-1). SO R
13
MEDICATIO NS Combi-
- nation treatment with pulsed-dye laser plus intralesional therapy
Figure 141-6). SO R per week may be superior to either approach alone. 14 SO R

This may be repeated monthly as needed. 5,8
following tangential shave excision on both sides of the earlobe. 10 patients with keloids were treated with intralesional steroid
SOR and cryosurgery vs. intralesional steroid or cryosurgery alone. 15
SO R Patients were treated at least 3 times 4 weeks apart.
Based upon keloid thickness, the keloids responded signi cantly
prevented the recurrence of presternal keloids after excision.11 SOR better to combined cryosurgery and triamcinolone versus
triamcinolone alone or cryotherapy alone. Pain intensity was
CO MPLEMENTARY/ ALTERNATIVE THERAPY signi cantly lowered with all treatment modalities. Pruritus
was lowered only with the combined treatment and intralesional
corticosteroid alone. 15
-
ited clinical trials have failed to demonstrate lasting improvement
of established keloids and hypertrophic scars with onion extract received two 15-second cycles (total 30 seconds) of cryosurgery
3 SO R treatments once monthly for 12 months with intralesional injec-
3 months. SO R Topical application of silicone gel was

added 3 times daily for 12 months. The control group included
10 patients who received treatment with silicone sheeting only.
After 1 year there was improvement in all the parameters, espe-
cially in terms of symptoms, cosmetic appearance, and associated
signs, compared to baseline and compared to the control group.
SO R
helpful but cryotherapy is more effective (85% improvement in
Treatment with intralesional triamcinolone was bene cial, but the

response to cryosurgery was signi cantly better in early, vascular
lesions. SO R
-
FIGURE 141-6 Triamcinolone inje cte d into this symp tomatic ke loid on -
the che st. Note how the ke loid is b lanching white , d e monstrating that ing modality is applied to the keloid, it is allowed to thaw and
the ste ro id is p rop e rly inje cte d into the b od y of the ke lo id . A Lue r lock develop edema. This generally takes 1 to 2 minutes, which
syring e is use d to avoid the ne e d le p op p ing off d uring the inje ction
und e r p re ssure and a 27-g aug e ne e d le is use d to minimize p atie nt allows an easier introduction of intralesional steroids into the
d iscomfort. (Use d with p e rmission from Richard P. Usatine , MD.) lesions. SO R
PART 14
810 CHAPTER 141
DERMATO LO GY
PREVENTIO N
may decrease keloids in susceptible individuals.
PRO GNO SIS
FO LLO W-UP
lesional steroid injections is usually in 1 month.
PATIENT EDUCATIO N
-
FIGURE 141-7 Ear lob e ke loid was shave d off with a De rmaBlad e and
the b ase was tre ate d with e le ctrosurg e ry to stop the b le e d ing . The n
0.1 mL of 40 mg /mL triamcinolone was inje cte d into the b ase of the
re maining ke loid . (Use d with p e rmission from Richard P. Usatine , MD.) PATIENT RESO URCES
Keloids—www.nlm.nih.gov/ medlineplus/
receive intralesional triamcinolone (TAC) or a combination of TAC
18
Both groups received injections at Keloid Information for Adults—www.skinsight.com/
weekly intervals for 8 weeks and lesions were assessed for ery- adult/ keloid.htm.
thema, pruritus, pliability, height, length, and width. Both groups
showed an acceptable improvement in nearly all parameters, but PRO VIDER RESO URCES
Keloid and Hypertrophic Scar
for all except pruritus and percentage of itch reduction). Good-to- http:// emedicine.medscape.com/ article/ 1057599.
excellent improvement was reported by 20 percent of the patients
Keloids (Plastic Surgery)—http:// emedicine
receiving TAC alone and by 55 percent of the patients in the group
18 SO R .medscape.com/ article/ 1298013.
of the base with steroid (Figure 141-7 -

-
application. Contains details, photographs and videos on how to
cinolone is preferred as the concentration for injection. SO R
use cryosurgery and intralesional injections to treat keloids—
http:// usatinemedia.com/ Usatine_Media_LLC/
with a pure cutting setting (and using steroid in the anesthetic).
DermProcedures_Overview.html.
result in recurrence rates approaching 80 percent. A randomized,

prospective trial comparing steroid injections versus radiation ther- REFERENCES
radiation therapy, whereas 4 of 12 (33%) recurred after surgery

clinical features, and management. Semin Plast Surg
and steroid injections. These results did not produce a statistically
dehiscence, or chronic dermatitis was observed in any patient in

either group. Although radiation therapy was considered easy to Plast Reconstr Surg.
obtain in this study, it is reasonable to use steroid injections in
of ce practice. hypertrophic scars. Am Fam Physician.
PART 14
KELO IDS 811
DERMATO LO GY
review and treatment strategies. Semin Cutan Med Surg Lancet.
- -
Arch
Facial Plast Surg. keloid and hypertrophic scars. Dermatol Surg.
- -
ing hypertrophic and keloid scars. Cochrane Database Syst Rev. parison of the combined effect of cryotherapy and corticosteroid
injections versus corticosteroids and cryotherapy alone on
J DermatologTreat.
for hypertrophic scars and keloids? J Fam Pract.
critical look at therapeutic options. JAmAcad Dermatol Int J Dermatol.
Dermatol Surg. triamcinolone and cryosurgery in the treatment of acne keloids.

Br J Dermatol.
after tangential shave excision. Dermatol Surg.

of keloid and hypertrophic scars. Clin Exp Dermatol.
cream for the prevention of recurrence after excision of prester-
nal keloids. Dermatology.
earlobe keloid recurrence with postoperative corticosteroid in-
triamcinolone and cryosurgery in the treatment of acne keloids.
and review of the literature. Dermatol Surg.
Br J Dermatol.
PYO GENIC GRANULO MA
1
1
6
A B
A. B.
1
1 7
Bartonella.
1
1
Use d with p e rmission from Richard P. Usatine , MD.
11
Use d with Use d with p e rmission from UTHSCSA Division

p e rmission from Richard P. Usatine , MD. of De rmatolog y
16
17
16
1
16
18
1
JAmAcad Dermatol
Am J Dermatopathol
Dermatol Surg
Urology
Br J Dermatol
Br J Dermatol. 2006;154(6):1108-11.
Eur J Dermatol
Dermatol Surg
Cutis
J DermatologTreat
J Eur Acad Dermatol

Venereol Dermatol Surg
J Fam Pract
Oral Dis.
J Cutan Med Surg Dermatol Surg
J Orthod Pediatr
Dermatol.
PART 14
BENIGN NEVI 817
DERMATO LO GY
SECTIO N 10 NEVI AND MELANO MA
143 BENIGN NEVI

PATIENT STO RY
Figure 143-1
INTRO DUCTIO N

SYNO NYMS
EPIDEMIO LO GY
c
A B
FIGURE 143-1 A. Multip le halo ne vi on the b ack. B. Close -up of a halo ne vus in transition. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
818 CHAPTER 143
DERMATO LO GY
FIGURE 143-2 Two benig n junctional nevi on the arm of a teenag e g irl. FIGURE 143-4 De rmal ne vus (intrad e rmal me lanocytic ne vus)—d ome
Note how these are at macule s. (Used with p ermission from Richard P. shap e d with some scatte re d p ig me ntation. (Use d with p e rmission from
Usatine , MD.) Richard P. Usatine , MD.)
Figure 143-2
~
Figure 143-3 ~
~ Figure
143-7
Figures 143-4 143-5
Figure 143-1
Figure 143-6
FIGURE 143-3 Be nig n comp ound ne vus on the che st of a 14-ye ar-old FIGURE 143-5 De rmal ne vus ove r the trag us. This b iop sy p rove n
g irl p rove n b y b iop sy. Note the b rown p ig me ntation and the fact that d e rmal ne vus was uniformly p ig me nte d . (Use d with p e rmission from
the ne vus is raise d . (Use d with p e rmission from Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
BENIGN NEVI 819
DERMATO LO GY
FIGURE 143-8 Sp itz ne vus that g re w ove r the p ast ye ar on the nose
of this 18-ye ar-old fe male . It was fully e xcise d with no comp lications.
FIGURE 143-6 Blue ne vus on the le ft che e k that could re se mb le a

me lanoma with its d ark color. In this case it was fully e xcise d with a NO NMELANO CYTIC NEVI
5-mm p unch with a g ood cosme tic re sult. Blue ne vi are b e nig n and d o
not ne e d to b e e xcise d unle ss the re are susp icious chang e s. (Use d with
(Figures 143-11 143-12
~
Figures 143-8
143-9
FIGURE 143-7 Ne vus sp ilus on the le g of a young woman fro m b irth. FIGURE 143-9 Spitz nevus on face of this 9-year-old b oy. He very bravely
It ap p e ars b e nig n and ne e d s no inte rve ntion. (Use d with p e rmission allowed us to excise it with local anesthesia. (Use d with p ermission from
from Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
820 CHAPTER 143
DERMATO LO GY
FIGURE 143-10 Ne vus of O ta on the face of this young woman since FIGURE 143-12 Be cke r ne vus on the b ack of a 16-ye ar-old Hisp anic
e arly child hood . It involve d b oth e ye s and the skin around b oth e ye s. b oy for 2 ye ars. While this ne vus d id not have hair, it d id have incre ase d
The scle ral p ig me ntation looks b lue . (Use d with p e rmission from acne within the are a—anothe r fe ature of the Be cke r ne vus. (Use d with
RISK FACTO RS
(Figure 143-14
Figure 143-15
FIGURE 143-11 Be cke r ne vus that d e ve lop e d d uring ad ole sce nce .
Hair is fre q ue ntly se e n on this typ e of nonme lanocytic ne vus. (Use d FIGURE 143-13 Ne vus d e p ig me ntosus on the face of this young g irl
with p e rmission from Richard P. Usatine , MD.) since b irth. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
BENIGN NEVI 821
DERMATO LO GY
DIAGNO SIS
CLINICAL FEATURES
Figure 143-2
(Figure 143-3
Figures 143-4 143-5
FIGURE 143-14 Ne vus ane micus on the p oste rior ne ck. The localize d
hyp e rse nsitivity to cate cholamine s cause s the are a to stay lig hte r than
the surround ing skin. (Use d with p e rmissio n from the Unive rsity of
Te xas He alth Scie nce s Ce nte r, Division of De rmatolog y.)
IMAGING
Figure 143-16
FIGURE 143-15 Ne vus come d onicus on the che st of this 15-ye ar-old
b oy since b irth. This is a cong e nital hamartoma with op e n come d one s.
It is not acne . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
822 CHAPTER 143
DERMATO LO GY
FIGURE 143-16 De rmoscop y of a b e nig n me lanocytic ne vus in a

te e nag e g irl showing a g lob ular p atte rn ofte n se e n in the ne vi of
child re n. (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 143-17 Lab ial me lanotic macule . The se are b e nig n b ut are
not ne vi. (Use d with p e rmission from Richard P. Usatine , MD.)
BIO PSY
Figure MANAGEMENT
143-9
PREVENTIO N
Figure 143-17
≥
PART 14
BENIGN NEVI 823
DERMATO LO GY
PRO GNO SIS

Dermatology.
Melanocytic Nevi
Arch
Pathol Lab Med.
J Invest Dermatol.
Eur J
FO LLO W-UP Cancer.
Arch Dermatol.
Br J Dermatol
Pediatrics.
Pediatrics
PATIENT EDUCATIO N Arch Dermatol.
Arch Dermatol.
Semin Cutan
Med Surg
PATIENT RESO URCES Arch Dermatol
www.skinsight.com/ child/ Arch Ophthalmol

commonAcquiredNevusMole.htm
moles.html JAmAcad Dermatol.
www.aocd
.org/ skin/ dermatologic_diseases/ moles.html
PRO VIDER RESO URCES Am J Prev Med

http:// emedicine.medscape.com/ article/
1058445-overview J Cutan Pathol.
REFERENCES
JAmAcad Dermatol.
. Arch Dermatol Arch Dermatol

CHAPTER 144
144 CO NGENITAL NEVI

FIGURE 144-2 Larg e b athing trunk ne vus with multip le sate llite ne vi
on this hap p y 2-ye ar old b oy. The mothe r has op te d for no surg ical
inte rve ntion. (Use d with p e rmissio n from Richard P. Usatine , MD.)
FIGURE 144-1 Small cong e nital ne vus found on the foot o f a

6-month-old child . The p are nts we re counse le d to not g e t it e xcise d at
this time . (Use d with p e rmission from Richard P. Usatine , MD.)
CO NGENITAL NEVI
FIGURE 144-3 Bathing trunk cong e nital me lanocytic ne vus has ne

ve lus hairs o n the surface . In time , the se hairs b e come te rminal hairs
and the le sion could the n b e te rme d cong e nital hairy ne vus. It has a
sig ni cant p re malig nant p ote ntial. Stag e d e xcisions are ofte n p e r-
forme d to d e b ulk the le sion e ve n if it cannot all b e re move d . Care ful
clinical follow-up is re q uire d on at le ast an annual b asis at the p hysi-
cian’s of ce and monthly at home looking for any chang e s that would
p romp t b iop sy to e xclud e malig nant d e g e ne ration. (Imag e use d with
p e rmission from Rob e rt Brod e ll, MD.)
FIGURE 144-5 Giant cong e nital b athing trunk ne vus surround e d b y

sate llite ne vi in a 7-ye ar-old Hisp anic b oy. The p atie nt was re fe rre d for
consid e ration of stag e d re moval of this p ote ntially d ang e rous le sion.
~ (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 144-6 Cong e nital ne vus on around the are ola of a 4-month-
old g irl. It was re comme nd e d to not e xcise this ne vus as it would like ly
FIGURE 144-4 Infant b orn with larg e b athing trunk ne vus cove ring cause d amag e to b re ast d e ve lop me nt in the future . As the re are no
most of the b ack and che st. (Use d with p e rmission from UTHSCSA malig nant fe ature s this ne vus will b e followe d with ye arly clinical
Division of De rmatolog y.) e xams. (Use d with p e rmission from Richard P. Usatine , MD.)
CHAPTER 144
FIGURE 144-9 Cong e nital ne vus on a 7-ye ar-old b oy with a p e b b ly

surface . (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 144-7 Me d ium-size d cong e nital ne vus on the face of this

4-ye ar-old b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 144-8 Cong e nital ne vus on the should e r of this 10-ye ar-o ld
g irl that was b iop sie d to con rm that it was b e nig n. Note the small
are a of raise d p ig me ntation in the mid d le of the ne vus that p romp te d FIGURE 144-10 A b e nig n hairy cong e nital ne vus on the up p e r
the p are nt’s re q ue st for a b iop sy. (Use d with p e rmission from Richard P. b uttocks of a 7-ye ar-old b oy. (Use d with p e rmission from Richard P.
Usatine , MD.) Usatine , MD.)
CO NGENITAL NEVI
FIGURE 144-11 Two sate llite ne vi with hyp e rtrichosis in a child with ~
one larg e r cong e nital ne vus not shown in this p hotog rap h. (Use d with
~
FIGURE 144-13 Acral cong e nital ne vus close to the sole of the foot
of an 8-ye ar-old g irl. The d e rmascop ic imag e in the up p e r le ft corne r
FIGURE 144-12 De rmoscop y of a cong e nital ne vus in a child showing shows p aralle l p ig me nte d line s running in the valle ys of the acral skin
a g lob ular p atte rn. This is the cong e nital ne vus on the 10-ye ar-old g irl re assuring the p hysician that this is a b e nig n ne vus. (Use d with p e rmis-
in . (Use d with p e rmission from Richard P. Usatine , MD.) sio n from Richard P. Usatine , MD.)
CHAPTER 144
FIGURE 144-14 A cong e nital Be cke r’s ne vus p re se nting with hyp e r- FIGURE 144-16 A sp e ckle d cong e nital ne vus (ne vus sp ilus) on the
p ig me ntation and hair g rowth on the rig ht should e r of this te e nag e b ack. (Use d with p e rmission from Richard P. Usatine , MD.)
b oy. (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 144-15 Cong e nital ne vus d e p ig me ntosus on the should e r

of a 17-ye ar-old g irl since b irth. (Use d with p e rmission from Richard P.
Usatine , MD.)
CO NGENITAL NEVI
FIGURE 144-17 This cong e nital ne vus on a 12-ye ar-old g irl b e came
d arke r and d e ve lop e d a halo around it. Up on e xcision it was d e te r-
mine d that it was an in ame d cong e nital intrad e rmal ne vus with no
malig nant fe ature s. (Use d with p e rmission from Richard P. Usatine , MD.)
FIGURE 144-19 Me lanoma arising in an acq uire d ne vus showing

fe ature s of ce ntral re g re ssion and a ne w e le vate d nod ule . The se are
the same fe ature s that would make a cong e nital ne vus susp icious
~ for me lanoma. (Use d with p e rmission from UTHSCSA Division of
De rmatolog y.)
FIGURE 144-18 Color chang e s ap p e aring in a cong e nital ne vus. The

d e rmoscop ic imag e in the b ottom le ft corne r was not re assuring and
a b iop sy re ve ale d p ig me nt incontine nce b ut no sig ns of malig nancy.
Br J Dermatol
Br J Dermatol
J Am Acad Dermatol
J Am Acad Dermatol
J Am Acad Dermatol
Br J Dermatol
Arch
Dermatol
Plast
Reconstr Surg.
J Plast Reconstr Aesthet Surg

Pediatr Clin N Am
J Craniofac Surg
J Pediatr
J Plast Reconstr Aesthet Surg
PART 14
EPIDERMAL NEVI AND NEVUS SEBACEO US 831
DERMATO LO GY
145 EPIDERMAL NEVI AND

NEVUS SEBACEO US
PATIENT STO RY
Figure 145-1
FIGURE 145-2 Ne vus se b ace ous on the scalp of a 14-ye ar-old b oy.
SYNO NYMS
INTRO DUCTIO N
-
-
- (Figure 145-2
-
Figure 145-3
EPIDEMIO LO GY
FIGURE 145-1 Ep id e rmal ne vus on the face of a te e nag e r. This ne vus FIGURE 145-3 In ammatory line ar ve rrucous e p id e rmal ne vus (ILVEN)
has b e e n p re se nt since b irth, and the p atie nt is othe rwise he althy. on the trunk. Top ical ste roid s we re not he lp ful in d iminishing his p ruri-
(Use d with p e rmission from Richard P. Usatine , MD.) tus. (Use d with p e rmission from Rob e rt T. Gilson, MD.)
PART 14
832 CHAPTER 145
DERMATO LO GY
4
-
FIGURE 145-5 Ne vus se b ace ous b e hind the e ar of an infant. Note the
lig ht color and the sub tle p re se ntation. (Use d with p e rmission fro m
Figure 145-4 -
(Figures 145-1 145-3 145-4 -
-
Figure 145-5
~ -
Figure 145-6
FIGURE 145-4 Line ar e p id e rmal ne vus on the ne ck that ap p e are d in FIGURE 145-6 Ne vus se b ace ous on the scalp of a te e nag e fe male
e arly child hood . The p atie nt had no ne urolog ic, musculoske le tal, or that is ve rrucous and b rown. (Use d with p e rmission from Richard P.
vision p rob le ms. (Use d with p e rmission from Richard P. Usatine , MD.) Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 145-7 Ne vus se b ace ous with a b e nig n tumor id e nti e d as a

syring ocystad e noma p ap illife rum b y shave b iop sy. Patie nt was re fe rre d
for full re moval of the ne vus se b ace ous. (Use d with p e rmission from
~ Figures 145-7
FIGURE 145-9 Ep id e rmal ne vus with some hyp e rp ig me ntation on

the fore he ad of this young g irl. (Use d with p e rmission from Richard P.
Usatine , MD.)
MAKING THE DIAGNO SIS

Figures 145-8 145-9
CLINICAL FEATURES O F EPIDERMAL NEVI
(Figure 145-3
Figures 145-8 145-9
CLINICAL FEATURES O F NEVUS SEBACEO US
Figures 145-6 145-6

145-10
Figure 145-10
Figure 145-11
FIGURE 145-8 Ep id e rmal ne vus that is line ar on the sid e of this young Figures 145-10 145-5
b oy’s face . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
834 CHAPTER 145
DERMATO LO GY
FIGURE 145-12 Liche n striatus that ap p e are d sud d e nly on the arm of
a young b oy. (Use d with p e rmission fro m Richard P. Usatine , MD.)
FIGURE 145-10 Ne vus se b ace ous on the scalp ap p e aring ve rrucous ~

with p ink and b rown coloration. (Use d with p e rmission from Richard P.
Usatine , MD.)
BIO PSY
(Figure 145-12
Figure 145-13
FIGURE 145-11 Exte nsive e p id e rmal ne vus following Blaschko line s

on the trunk of this b oy. Note how the line s are similar to the p atie nt
with in ammatory line ar ve rrucous e p id e rmal ne vus (ILVEN) in Fig ure FIGURE 145-13 Syring oma on the lowe r e ye lid of a te e nag e g irl.
145-2. (Use d with p e rmission from Rick Hod e s, MD.) (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
~ -
FO LLO W-UP
~ -
FIGURE 145-14 Ne vus se b ace o us ab o ut to b e e llip tically e xcise d
fro m the fo re he ad o f a 15-ye ar-old g irl. Care ful surg e ry b y an e xp e ri-
-
e nce d surg e on p rod uce d an e xce lle nt cosme tic re sult. The g irl and
he r p are nts re q ue ste d the surg e ry fo r co sme tic and p sycho lo g ic re a-
so ns as the re we re no sig ns o f malig nant d e g e ne ratio n. The g irl and
he r p are nts we re d e lig hte d with the re sults. (Use d with p e rmission
Figures 145-1 145-3 -
fro m Richard P. Usatine , MD.)
PATIENT RESO URCES

www.nevus.org/ other-kinds-of-nevi_
MANAGEMENT id559.html
MEDICATIO NS http:// ghr.nlm.nih.gov/ condition/ epidermal-nevus

http:// emedicine.medscape.com/
article/ 1058733-overview
PRO CEDURES http:// emedicine.medscape
- .com/ article/ 1117506-overview
- REFERENCES
Pediatr Dermatol
J Am Acad
Dermatol
Figure 145-14
Pediatr Clin
SOR
N Am
Pediatr Neurol
PRO GNO SIS

J Am Acad Dermatol
Nevus sebaceous
PART 14
836 CHAPTER 145
DERMATO LO GY
-
J Am Acad Dermatol Plast Reconstr Surg
Dermatol Surg -
Int J Dermatol Dermatol Surg
Australas J Dermatol
J Craniofac Surg
PART 14
DYSPLASTIC NEVUS 837
DERMATO LO GY
146 DYSPLASTIC NEVUS

PATIENT STO RY
A teenage boy presents with concern over a mole on his back that his
mother says is growing larger and more variable in color. His mother,
who is present with him, reports that his father had a melanoma that
was caught early and successfully treated. The edges are irregular and
the color almost appears to be “leaking” into the surrounding skin. He
reports no symptoms related to this lesion. On physical exam, the
nevus is 9 mm in diameter with asymmetry, variations in color and an
irregular border (Figure 146-1). A full-body skin exam did not dem- FIGURE 146-2 De rmoscop y of this comp ound d ysp lastic ne vus shows
an irre g ular ne twork with multip le asymme trically p lace d d ots off the
onstrate any other suspicious lesions. Dermoscopy showed ne twork. (Use d with p e rmission from Richard P. Usatine , MD.)
an irregular network with multiple asymmetrically placed dots off
the network (Figure 146-2). A scoop saucerization was performed
with a DermaBlade taking 2-mm margins of clinically normal skin with DN is that any one lesion suspicious for melanoma must be biop-
(Figure 146-3). The pathology showed a completely excised com- sied to avoid missing melanoma, not to prevent melanoma from oc-
pound dysplastic nevus with no signs of malignancy. No further treat- curring in that nevus in the future.
ment was needed except yearly skin exams to monitor for melanoma.
SYNO NYMS
INTRO DUCTIO N
Atypical nevus, atypical mole, Clark nevus, nevus with architectural
Dysplastic nevi (DN)/ atypical moles are acquired melanocytic lesions disorder, and melanocytic atypia. 1
of the skin whose clinical and histologic de nitions are controversial
and still evolving. These lesions have some small potential for malig-
nant transformation and patients with multiple DN have an increased EPIDEMIO LO GY
risk for melanoma. 1
The presence of multiple DN is a marker for increased melanoma
risk, similar to red hair, and, analogously, cutting off the red hair or (N = 524), none had DN. 2 In another study of pathology reports
cutting out all the DN does not change melanoma risk. The problem
FIGURE 146-3 A scoop sauce rization was p e rforme d with a

FIGURE 146-1 Growing 9-mm p ig me nte d le sion on the b ack with De rmaBlad e taking 2-mm marg ins of clinically normal skin. Althoug h
asymme try, variations in color and an irre g ular b ord e r. Patholog y afte r this could have b e e n an e arly thin me lanoma, the p atholog y showe d a
e xcision re ve ale d this to b e a comp ound d ysp lastic ne vus. (Use d with comp le te ly e xcise d comp o und d ysp lastic ne vus with no sig ns of malig -
p e rmission from Richard P. Usatine , MD.) nancy. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
838 CHAPTER 146
DERMATO LO GY
from nevi removed from patients younger than 18 years, 3 of 199

nevi submitted for histologic analysis met the histologic criteria for
DN. 3
(AMs). 4,5 Among patients with melanoma, the rate of DN ranges

from 34 to 59 percent. 4
4
been reported and is associated with blistering skin conditions and a
patients with immunosuppression have increased numbers of nevi

on the palms and soles. 6
diagnosis and treatment of early melanoma de ned a syndrome of

familial atypical mole and melanoma (FAMM). The criteria of
FAMM syndrome are7: FIGURE 146-4 Dysp lastic ne vus in a young woman with malig nant
~ The occurrence of malignant melanoma in one or more rst- or me lanoma in a d iffe re nt re g ion of he r b od y. The size was g re ate r than
second-degree relatives. 6 mm and the re was variation in color. This was fully e xcise d to make
~ The presence of numerous (often > 50) melanocytic nevi, some
sure the re was no me lanoma p re se nt. (Use d with p e rmission from
of which are clinically atypical.
~ Many of the associated nevi show certain histologic features (see
the following section “Biopsy”).

Figures
146-1 and 146-4).
ETIO LO GY AND PATHO PHYSIO LO GY far greater than the average number of common moles (< 50) in
most individuals.
Figure 146-1) possessing a junc-
tional and intradermal component (see Chapter 143, Benign
Nevi). 1 The junctional component is highly cellular and consists of
an irregular distribution of melanocytes arranged in nests and len-
tiginous patterns along the dermoepidermal junction. The dermal
component, located at the center, consists of nests and strands of
melanocytes with distinct sclerotic changes. 1
elongation, subepidermal sclerosis, proliferation of dermal

capillaries, and a perivascular, lymphohistiocytic in ammatory
in ltrate. 1
lesions are associated with overexpression of pheomelanin

(pigment produced by melanocytes), which may lead to increased
oxidative DNA damage and tumor progression. 8
DIAGNO SIS
CLINICAL FEATURES
within a single lesion (Figures 146-4 and 146-5).
skin.
Figures 146-4 to 146-6) with the macular
portion at edge. Not verrucous or pendulous.
FIGURE 146-5 Dysp lastic ne vus on the chin of a te e nag e g irl. A p unch
b iop sy succe ssfully re move d the whole le sion and con rme d that it was
hyperemia making them appear target-like. not me lanoma. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
than 6 mm, round in shape, and with sharp borders (see Chapter
143, Benign Nevi).
and varied colors. It is usually larger than 6 mm in diameter (see

Chapter 147, Melanoma).
MANAGEMENT
NO NPHARMACO LO GIC
-
ing with DN.
FIGURE 146-6 Dysp lastic ne vus on the b ack p rove n b y b iop sy. Note
the frie d e g g ap p e arance of this atyp ical mole . (Use d with p e rmission
from Richard P. Usatine , MD.) transformation, the prophylactic removal of all DN is not
recommended. SOR
MEDICATIO NS
isotretinoin, topical tretinoin with or without hydrocortisone, and
Figures 146-1 topical imiquimod, none completely destroy DN. 4
and 146-6
rare such as the scalp, breasts, genital skin, buttocks, palm, and PRO CEDURES
dorsa of feet.
the diagnosis and rule out melanoma. This should be accomplished
IMAGING with excisional biopsy and histologic con rmation of DN versus mela-
noma. DN is usually removed with conservative surgical margins
hyper- or hypopigmented types are more commonly seen in mela- (about 2 mm) to provide adequate tissue for the pathologist. 3 SOR
noma, no digital dermatoscopic criteria have been identi ed that
can clearly distinguish DN from in situ melanomas. 9 However, der- razor blade) including at least a 2-mm margin of clinically normal
moscopy increases diagnostic sensitivity and speci city of cutaneous skin surrounding the pigmented lesion is a rapid and acceptable
melanoma from 60 to greater than 90 percent, especially using pat- method of excision for pathology (Figure 146-7).
tern recognition. 4
benign melanocytic lesions with minor suspicion of melanoma

undergoing short-term dermoscopy. 10 Change was more often seen
in younger (0 to 18 years and 19 to 35 years) and older patients.
BIO PSY
Although not universally accepted, the World Health Organization
individual lesions requiring two major and two minor criteria to be

classi ed as a DN:4
~ Major criteria are basilar proliferation of atypical nevomelano-
cytes and organization of this proliferation in a lentiginous or epi-

thelioid cell pattern.
~ Minor criteria are: (a) the presence of lamellar brosis or
concentric eosinophilic brosis, (b) neovascularization, (c)
in ammatory response, and (d) fusion of rete ridges. These FIGURE 146-7 Scoop sauce rization of a susp icious p ig me nte d le sion
that turne d out to b e a d ysp lastic junctional ne vus with mod e rate
established criteria yielded 92 percent mean concordance over- atyp ia. The whole le sion was succe ssfully e xcise d with this d e e p shave .
all by panel members. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
840 CHAPTER 146
DERMATO LO GY
PREVENTIO N
-
ance of nevi. In one trial (N = 209 white children), children ran-
domized to the sunscreen group, especially those with freckles, had
signi cantly fewer new nevi on the trunk than did children in the
control group at 3-year follow-up. 11
PRO GNO SIS
per year. 1 However, there is also an increased risk of melanoma

-
dence rate is uncertain and ranges from 0.5 to 46 percent. 4 There FIGURE 146-8 Multip le d ysp lastic ne vi on the b ack of a young man.
is also a substantially increased risk of melanoma associated with Multip le b iop sie s have all b e e n ne g ative , so p atie nt is b e ing followe d
- b y se rial d ig ital p hotog rap hy with numb e ring of the d ysp lastic ne vi.
12 (Use d with p e rmission from Richard P. Usatine , MD.)
for developing melanoma in patients with AM syndrome was 10.7 these long-term follow-up periods, no patient developed melanoma
13 at the site of an incompletely or narrowly removed histological dys-
plastic nevus. The authors concluded that this provides evidence that
routine re-excision of mildly or moderately dysplastic nevi may not
natural history of DN, investigators found that 51 percent of all
be necessary. 16
evaluated nevi (297 of 593) showed clinical signs of change during
an average follow-up of 89 months. 14 New nevi were common in
adulthood, continuing to form in more than 20 percent of patients
about DN in children but change is common in other nevi (see

Chapter 143, Benign Nevi).
FO LLO W-UP
performed of any suspicious lesions (Figure 146-7). 4

Figures 146-8
and 146-9). 4 In a study of 50 patients with 5 or more DN, the use
of baseline digital photographs improved the diagnostic accuracy of
skin self-examination on the back, chest, and abdomen, and
improved detection of changing and new moles. 15 Individual DN
can be monitored more precisely with digital dermoscopic photos
added to the skin photographs (Figure 146-9).
-
noma are at a higher risk of developing melanoma and should be
encouraged to have regular follow-up with a provider skilled in
detecting melanoma.
-
logic examination because of a possible association between uveal
melanoma and FAMM syndrome. 4 FIGURE 146-9 More than 14 d ysp lastic ne vi are se e n on the b ack of
this young woman. She has ne ve r had a me lanoma and has no family
history of me lanoma. Multip le b iop sie s so far have only shown d ysp las-
should be encouraged to be examined for DN and melanoma. tic ne vi, so she is b e ing followe d with se rial d ig ital p hotog rap hy of he r
ne vi along with corre sp ond ing d e rmoscop ic p hotog rap hs. Note the
In a cohort study of 115 patients with dysplastic nevi an average d e rmoscop ic imag e s of ne vi 3 and 4 in the b ottom le ft corne r. (Use d
follow-up of 17.4 years (range: 0.0 to 29.9) was achieved. 16 During with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
5. Mooi WJ. The dysplastic naevus. J Clin Pathol

PATIENT EDUCATIO N 711-715.
J Am Acad Dermatol
with a sun protective factor of 30 or greater and/ or sun-protective
clothing. nevus. Clin Dermatol
Histopathology
detect changes in existing moles and to recognize clinical features 56(1):112-120.
asymmetry, border irregularity, new symptoms (e.g., pain, pruri- situ melanoma: digital dermoscopy analysis. Br J Dermatol
tus, bleeding, or ulceration), and color and size changes. 152(4):679-684.
PATIENT RESO URCES predicting change in benign melanocytic nevi undergoing

www.nlm.nih.gov/ medlineplus/ moles.html. short-term dermoscopic imaging. Arch Dermatol. 2011:147(6):
655-659.
www.cancer.gov/ cancertopics/ wyntk/ moles-and-
dysplastic-nevi.
broad-spectrum sunscreen on nevus development among white
schoolchildren in a randomized trial. J Am Acad Dermatol.
52(5):786-792.
www.dermatlas.com.
-
http:// emedicine.medscape.com/ article/ 1056283- tors for cutaneous melanoma: I. Common and atypical naevi. Eur
overview. J Cancer.
www.ncbi.nlm.nih.gov/ books/ NBK7030/ . -
nant melanoma in patients with “classic” atypical-mole syndrome.
REFERENCES A case-control study. Arch Dermatol
Clin Lab Med
dysplastic nevi. J Am Acad Dermatol
children. Acta Derm Venereol patients in performing skin self-examination and the impact of
photography. Arch Dermatol
histologically dysplastic nevi in 199 pediatric patients. Pediatr
Dermatol. term outcomes in patients with histologically dysplastic nevi that
approach a specimen border. J
68(4):545-51.
nevus. Clin Dermatol
PART 14
842 CHAPTER 147
DERMATO LO GY
147 PEDIATRIC MELANO MA

1
Jonathan B. Karne s, MD
PATIENT STO RY
- RISK FACTO RS
Figure 147-1
-
ENVIRO NMENTAL RISKS
EPIDEMIO LO GY
- GENETIC RISKS
PHENO TYPIC RISKS
Figure 147-2
DIAGNO SIS
CLINICAL FEATURES
FIGURE 147-1 Ame lanotic nod ular me lanoma with atyp ical vascular
structure s se e n on d e rmo scop y (se e inse t in up p e r le ft corne r). (Use d
6
with p e rmission from Ashfaq A.Marg hoob , MD.)
PART 14
PEDIATRIC MELANO MA 843
DERMATO LO GY
A B
FIGURE 147-2 A. A 2-ye ar-old b oy with a b athing trunk ne vus and nume rous sate llite cong e nital ne vi. He b e ne ts from re g ular skin scre e ning
and mole monitoring . (Use d with p e rmission from Richard P. Usatine , MD.) B. A g iant b athing trunk ne vus note d at b irth. The d ark b lack colors
and variations in color make this a ve ry conce rning cong e nital ne vus. Ag ain, re g ular skin scre e ning and mole monitoring will b e a re g ular p art of
his care . (Use d with p e rmission from Carrie Grif n, MD.)
-
TRADITIO NAL ABCDE GUIDELINES
ABCDE Figure 147-3
A = Asymmetry
Figure 147-4
B Border.
Figure 147-4
C Color .
Figures 147-4
147-5
D Diameter
(Figure 147-5
E = Evolving
6 FIGURE 147-3 Sup e r cial sp re ad ing me lanoma on the ne ck d e mon-

strate s many trad itional ABCDE fe ature s of me lanoma. (Use d with p e r-
Figure 147-6 mission from Richard P. Usatine , MD.)
PART 14
844 CHAPTER 147
DERMATO LO GY
FIGURE 147-5 Small 4 × 5 mm melanoma that developed on the b ack

of an 11-year-old boy. This melanoma demonstrated asymmetry and vari-
ation in color only. (Used with permission from Kelly M. Cord oro, MD.)
FIGURE 147-4 Marke d asymme try, b ord e r irre g ularity, color variation,
and incre ase d d iame te r characte rize this thin me lanoma. (Use d with 6
-
A = Amelanotic
(Figures 147-1 147-6 147-7 (Table 147-1 6
B = Bleeding, Bump.
1 2
C = Color uniformity 3
- 4 5
Figure 147-8 6 7
D = De Novo, any diameter - 8
FIGURE 147-6 Comp arison o f co nve n-

tional ABCDE crite ria with othe r p re se nt-
ing fe ature s of me lanoma in child re n.
(Use d with p e rmission from and cop yrig ht
Cord oro KM, e t al. Pe d iatric me lanoma:
Re sults of a larg e cohort stud y and p ro-
p osal for mod i e d ABCD d e te ction crite -
ria for child re n. J Am Acad De rmatol.
2013.)
PART 14
DERMATO LO GY
FIGURE 147-8 Sp itzoid me lanoma on the wrist of a 4-ye ar-old g irl.

(Use d with p e rmission from John L. Pfe nning e r, MD.)
DERMO SCO PY
-
FIGURE 147-7 Ame lanotic me lanoma that d e ve lop e d in a larg e

cong e nital me lanocytic ne vus. The b oy was only 16-ye ars old . (Use d
with p e rmission from Ke lly M. Cord oro , MD.)
TABLE 147-1 Me lanoma Sub typ e s Ve rsus Me lano ma Sub typ e s in Child re n
Me lano ma Sub t yp e s in Ad ult s Me lano ma Sub t yp e s in Child re n

From most fre q ue nt to le ast fre q ue nt From most fre q ue nt to le ast fre q ue nt.
1. Sup e r cial sp re ad ing me lanoma 1. Unclassi e d or amb ig uous me lanoma re p re se nts a larg e ma-
jority of those found in child re n. Child hood me lanoma ofte n
d e e s trad itional histolog ic classi cation.
2. Nod ular me lanoma 2. Nod ular me lanoma is the most common sub typ e of me la-
noma in child re n and is re p re se nte d b y an e nlarg ing p ap ule
or nod ule . A at macule that is atyp ical may b e monitore d
ove r a short p e riod , b ut a p ap ule or raise d le sion should b e
b iop sie d rathe r than monitore d if clinically susp icious.
3. Le ntig o malig na me lanoma 3. Sup e r cial sp re ad ing me lanoma has a rad ial g rowth p atte rn
p rior to ve rtical invasion. The rst sig n is the ap p e arance of a
at macule or slig htly raise d and d iscolore d p ap ule or p laq ue .
Colors may vary and includ e tan, b rown, b lack, re d , b lue , or
white . The se le sions may arise at the e d g e of an old e r ne vus
and can arise anywhe re on the b od y.
4. Acral le ntig inous me lanoma 4. Sp itzoid me lanoma p re se nts with fe ature s similar to a Sp itz
ne vus with a smooth d ome shap e d p ap ule or nod ule that is
hairle ss and b rown or re d -b rown in color (Fig ure 147-8).
5. Ame lanotic me lanoma re p re se nts le ss than 5. Acral le ntig inous me lanoma of the hand s and fe e t is rare in
5 p e rce nt of ad ult me lanomas and p re se nt as child re n.
p ink to e sh colore d macule s or p ap ule s that
may b e e asily mistake n for an in ammatory
p ap ule or non-me lanoma skin cance r. In chil-
d re n, up to 70 p e rce nt of me lanoma may b e
ame lanotic.6
PART 14
846 CHAPTER 147
DERMATO LO GY
FIGURE 147-9 O b se rve many d e rmoscop ic fe ature s of me lanoma in

this sup e r cial sp re ad ing me lanoma. This is the d e rmoscop ic vie w of
the me lanoma in Fig ure 147-4. (Use d with p e rmission from Richard P.
Usatine , MD.)
-
Figure 147-9
- -
11
(Figure 147-1
(Figure 147-10
Figure 147-8
BIO PSY
FIGURE 147-10 This b e nig n comp ound d ysp lastic ne vus has se ve ral
fe ature s of me lanoma includ ing color variation and size g re ate r than
6 mm. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 147-12 This p yog e nic g ranuloma forme d rap id ly and b le d

easily on the scalp of this te enag er. It was excise d and se nt for patholog y
to make sure it was not an amelanotic melanoma. (Used with pe rmission
FIGURE 147-11 The se e p id e rmal ne vi we re incre asing in size , b ut are

not me lano cyctic in orig in and have no p ote ntial to b e come me la-
noma. (Use d with p e rmission from Richard P. Usatine , MD.)
Figure 147-18
Figure 147-11 15
-
15
-
Figures 147-12 147-13
-
Figure 147-14
Figures 147-15 147-16
(Figure 147-17
MANAGEMENT
FIGURE 147-13 A p yog e nic g ranuloma on the arm of a yo ung b oy
mimics an ame lanotic me lanoma. (Use d with p e rmission from
PART 14
848 CHAPTER 147
DERMATO LO GY
FIGURE 147-14 This p ink nod ule d e ve lop e d rap id ly on the chin of a
11-ye ar-old g irl and d id not re solve afte r se ve ral months. Patholog y
was consiste nt with p se ud olymp homa. (Use d with p e rmission from
A B
FIGURE 147-16 A and B. This p ap ule ap p e are d most consiste nt with

a Sp itz ne vus, b ut histolog y re ve ale d a wart with unusual p se ud oe p i-
the liomatous hyp e rp lasia. (Use d with p e rmission from Jonathan B.
Karne s, MD.)
-
16
B
FIGURE 147-15 This p ink and b lack wart with d otte d ve sse ls -
ap p e are d sud d e nly on the le g of a te e nag e b oy and share s some fe a-
ture s of me lanoma. (A) Clinical (B) De rmoscop y. (Use d with p e rmission
from Jonathan B. Karne s, MD.)
PART 14
DERMATO LO GY
FO LLO W-UP
FIGURE 147-17 A p ink and p urp le nod ule on the nose that had PATIENT EDUCATIO N
g rown ove r se ve ral months. This was e xcise d and turne d out to b e a
b e nig n p ilomatricoma. This is clinically susp e cte d whe n rock hard cal-
ci cations are p alp ab le within the tumor. (Use d with p e rmission from
- REFERENCES
-
Pediatrics
-
J Am Acad Dermatol
CA
Cancer J Clin
-
-
Cancer Causes Control
-
Familial Cancer
-
J Am
Acad Dermatol
FIGURE 147-18 Thick ulce rate d nod ular me lanoma on the b ack was
mostly ame lanotic in ap p e arance . The me lanoma d e p th was g re ate r
than 1 mm and the p atie nt was se nt for a comp le te e xcision with a se n- -
tine l no d e b iop sy. (Use d with p e rmission from Richard P. Usatine , MD.) Dermatology (Basel)
PART 14
850 CHAPTER 147
DERMATO LO GY
Dermatology e-dition: Text with Continu- -

ally Updated Online Reference, 2-Volume Set, 2e J Am Acad Dermatol
Eur J -
Dermatol
- Arch Surg
-
Archives of Dermatology J. Clin. Oncol.
J Hematol Oncol
Pediatr Dermatol
N. Engl. J. Med.
J Natl Compr Canc Netw
Int. J. Cancer
J. Am. Coll. Surg.

GRANULO MA ANNULARE
SECTIO N 11 INFILTRATIVE IMMUNO LO GIC
GRANULO MA Borrelia
ANNULARE
Me lissa Muszynski, MD
α
Figures 148-1 148-2

Figure 148-3 Fig-
ures 148-1 148-3
Figure 148-4
Figures 148-2 148-3
—
Figure 148-5
Figure 148-6
Figure 148-7
A B
B
www.skinsight.com/ adult/ granulomaAnnulare.htm
Granuloma Annulare— http:// emedicine

.medscape.com/ article/ 1123031
Am Fam Physician
Pediatr Dermatolo
Pediatrics
Granuloma Annulare
Lever’s Histopathology of the Skin

GRANULO MA ANNULARE
Arch Dermatol.
Arch Dermatol Res
Acta Derm Venereol (Stockh)
Arch Dermatol Photodermatol Photoimmunol

Clinical Dermatology Photomed
Int J Dermatol
Acta Derm Venereol
Eur J Pediatr Br J Dermatol

Hurwitz Clinical Pediatric Dermatology
Ann Pharmacother
Br J Dermatol
Treatment of Skin Disease, Br J Dermatol
Comprehensive Therapeutic Strategies
Dermatology
PART 14
856 CHAPTER 149
DERMATO LO GY
149 PYO DERMA gangrenosum in children and adolescents other than the age of the
patients. 2
GANGRENO SUM
be affected.
PATIENT STO RY
During a medical mission trip to Africa a child was seen with pyo-
derma gangrenosum on the dermatology ward of a hospital. She has
had a long history of pyoderma gangrenosum with ulcerations on her
face, neck, and chest (Figure 149-1). The scarring has caused adhe-
sions between the face, neck, and chest.
INTRO DUCTIO N
such as in ammatory bowel disease, hematologic malignancy, and
Pyoderma gangrenosum (PG) is an uncommon ulcerative disease of arthritis.
the skin of unknown origin that affects both children and adults. It is a
type of neutrophilic dermatosis. Figure 149-2).
-
EPIDEMIO LO GY derma gangrenosum, an underlying systemic disease was present
commonly ulcerative colitis. 2

ages each year. Figure 149-3), but
infants tend to have ulcers more commonly than adults in the genital
cases. There is nothing clinically distinctive about pyoderma and perianal distribution, the head and face (Figure 149-1), and
the buttocks (Figure 149-4). 7
FIGURE 149-1 Pyoderma g ang renosum on the face , ne ck, and chest
of a child in Africa. The scarring has cause d adhesions betwee n the face, FIGURE 149-2 Friab le in ame d mucosa of the colon in Crohn d ise ase .
ne ck, and chest. (Used with p ermission from Richard P. Usatine , MD.) (Use d with p e rmission from Shashi Mittal, MD.)
PART 14
PYO DERMA GANGRENO SUM 857
DERMATO LO GY
myelocytic).
DIAGNO SIS
CLINICAL FEATURES
border, which is usually violet or blue (Figures 149-3 and 149-4).

The color has also been described as the color of gun metal. The
FIGURE 149-3 Pyod erma g angrenosum on the foot of a child . The ulcer edge is often undermined and the surrounding skin is ery-
lowe r e xtre mity is the most common location for this rare d isease in thematous and indurated. It usually starts as a pustule with an
childre n. (Use d with permission from We inb erg SW, Prose NS, Kristal L,
Color Atlas of Pe diatric De rmatolog y, 4th edition, Figure 15-29, New in ammatory base, an erythematous nodule, or a hemorrhagic bulla
York, NY: McGraw-Hill, 2008.) on a violaceous base. The central area then undergoes necrosis to
form a single ulcer.
Patients may
features of ulceration, infarction, and abscess formation. have malaise, arthralgia, and myalgia.
RISK FACTO RS ~
border that overhangs the ulcer bed. These lesions of PG most

commonly occur on the legs (Figure 149-3).
~ Atypical PG has a vesiculopustular wet component. This is usually
of the forearms, or the face.
~ Peristomal PG may occur around stoma sites. This form is often

mistaken for a wound infection or irritation from the appliance. 9
~ Vulvar or penile PG occurs on the genitalia and must be differen-
adolescents such as chancroid and syphilis.

~ Intraoral PG is known as pyostomatitis vegetans. It occurs
primarily in patients with in ammatory bowel disease.
skin surface including the genitalia, buttocks, head and around a

stoma. PG can be seen on the scalp, head, and neck (Figure 149-1).
out hepatitis. Systemic disease markers may be elevated if associ-
FIGURE 149-4 Pyod e rma g ang re nosum on the b uttocks of an infant.

Note the ne crotic ulce rs with und e rmine d b ord e rs. (Use d with p e rmis- atypical Mycobacteria, and viruses.
sion Kane KS, Lio P, Stratig os AJ, Johnson RA. Color Atlas and Synop sis
of Pe d iatric De rmatolog y, 2nd e d ition, Fig ure 15-17, Ne w York, NY:
McGraw-Hill, 2009.) in ammatory bowel disease.
PART 14
858 CHAPTER 149
DERMATO LO GY
BIO PSY
an active area of disease along with the border, can be used to rule
out other causes of ulcerative skin lesions.
some lymphocytes and macrophages surrounding marked tissue
wound healing following immunosuppressant therapy. When

misdiagnosed it is often confused for vascular occlusive or venous FIGURE 149-6 Sporotrichosis (fungal infection) with the typical sporotri-
disease, vasculitis, cancer, primary infection, drug-induced or choid spread up the arm from an inoculation of the hand . Note the ulcers
that resemble pyoderma gangrenosum on the arm of this Panamanian
child. (Used with permission from Richard P. Usatine, MD.)
distinguish PG as the cause of ulcerative skin lesions.
vulvar or penile PG. These STDs are more common than PG and
- fever, abnormal lab values, including leukocytosis and an elevated
terial culture for Haemophilus ducreyi. If these tests are negative, then sedimentation rate, and a rapid response to systemic steroids.
it is initially negative at the start of a chancre—it takes some weeks but history of minor trauma in the area preceding lesion formation
(pathergy) and undermining of the violaceous border should lead
one toward the diagnosis of PG.
-
philic dermatosis like PG, but the patients are generally febrile with
systemic symptoms (Figure 149-5). The diagnosis of Sweet syn-
- when they ulcerate. The history of a spider bite can help differentiate
this from PG.
vesicles, pustules, or bullae, and (b) predominantly neutrophilic
while gardening with roses. It is usually on the arm or hand and can
resemble PG (Figure 149-6
medications can treat this.
malleolus and the most severe of these ulcers resembles PG,

although they are rare in children and usually associated with
other severe vaso-occlusive problems. The presence of signs and
from PG.
MANAGEMENT
NO NPHARMACO LO GIC
FIGURE 149-5 Swe e t’s synd rome in an infant. Erythe matous p laq ue s
and nod ule s with ce ntral b ullous chang e s are p re se nt on the le g s. and width to track treatment progression.
(Use d with p e rmission Kane KS, Lio P, Stratig os AJ, Johnson RA. Colo r
Atlas and Synop sis of Pe d iatric De rmatolog y, 2nd e d ition, Fig ure 15-16,
Ne w York, NY: McGraw-Hill, 2009.) SO R
PART 14
PYO DERMA GANGRENO SUM 859
DERMATO LO GY
MEDICATIO NS
aimed at pain relief as well as healing the skin lesions.
with steroids is often necessary. SO R
PATIENT RESO URCES

that are not severe. Start with potent corticosteroid ointments or
tacrolimus ointment (over age 2 years). SO R www.aarda.org/ .
SO R www.ccfa.org.
SO R PRO VIDER RESO URCES

- Pyoderma Gangrenosum—http:// emedicine
- .medscape.com/ article/ 1123821.
Pyoderma Gangrenosum—www.mayoclinic.com/
health/ pyoderma-gangrenosum/ DS00723.
or together appears to be effective (in the absence of controlled
- Orphanet J Rare Dis.
apy. SO R www.ncbi.nlm.nih.gov/ pmc/ articles/ PMC1857704/ .
REFERENCES
and a small placebo-controlled trial. SO R
therapies reported to improve symptoms include etanercept and treatment of pyoderma gangrenosum. BMJ
adalimumab. SO R
gangrenosum in infants and children. Pediatr Dermatol.

cyclophosphamide, and tacrolimus. SO R
Pyoderma Gangrenosum emedicine.
REFERRAL
In most cases, referral to a dermatologist is needed.
evolution of erythema nodosum and pyoderma gangrenosum in

PRO GNO SIS Am J Gastroenterol.
(Figure 149-1) and recurrences may occur. Br J Dermatol.
perianal skin loss in a child. Br J Clin Pract

therapies.
gangrenosum. Arch Dermatol.
FO LLO W-UP
J Am Acad Dermatol.
condition.
immunopathologic study of pyoderma gangrenosum. J Cutan
Pathol.
PATIENT EDUCATIO N
Reprod Health
as pyoderma gangrenosum. N Engl J Med

PART 14
860 CHAPTER 149
DERMATO LO GY
J Am
review and update on new therapies. J Am Acad Dermatol. Acad Dermatol
-
-
In amm Bowel Dis.
J Am Acad Dermatol.
blind, placebo controlled trial. Gut.

peristomal pyoderma gangrenosum. J Cutan Med Surg
gangrenosum. Arch Dermatol.
Dermatol Ther
PART 14
PEDIATRIC SARCO IDO SIS 861
DERMATO LO GY
the predominant symptom being a mild, dry, chronic cough. 6 The eyes
150 PEDIATRIC SARCO IDO SIS are also affected in older children (20 to 30%). 3,9 Symptoms include
Yoon-Soo Cind y Bae -Harb oe , MD eye redness, blurred vision, photophobia, and ocular pain. Ophthalmic
Khashayar Sarab i, MD sarcoidosis manifests as uveitis with anterior segment involvement
Amor Khache moune , MD (84% of cases). 9 Other complications include optic neuritis, band
keratopathy, cataracts, glaucoma, and retinal vasculitis. Other organ
systems may be involved including the reticuloendothelial system
(enlargement of lymph nodes), 1 cutaneous (erythema nodosum), 2
PATIENT STO RY musculoskeletal (joint effusions, arthralgias, myositis),2 renal (nephro-
calcinosis, abnormal urinalysis), 3,10 cardiovascular (arrhythmias, sudden
A 4-year-old boy presents with “multiple bumps” that have been grow- death),11 central nervous system (seizures, cranial neuropathies, diabetes
ing on his face (Figure 150-1). The differential diagnosis of these insipidus, growth hormone de ciency), 6,12,13 and hepatic (abnormal
lesions included cutaneous sarcoidosis and granuloma annulare. A liver function tests) systems.14
punch biopsy was performed and the diagnosis of sarcoidosis was made.
SYNO NYMS
INTRO DUCTIO N
Sarcoidosis is a multisystem granulomatous disease most commonly

involving the skin, lungs, lymph nodes, liver, and eyes. There is no clear
gender predominance in childhood sarcoidosis. 1 Of interest, outside the
US sarcoidosis mainly occurs in the predominant race of the country. 2
Higher incidences of cases occur in certain parts of the world, including
Sweden in Europe and the South Atlantic and Gulf States in the US.3–5 lupus).
In the pediatric population, sarcoidosis is divided into early and
late onset. Early onset involves children in their rst four years of life,
presenting with a triad of arthritis, rash, and uveitis. 4 In this patient EPIDEMIO LO GY
population, typical pulmonary disease occurs in about 22 percent of
children in this age group. 6 Early onset sarcoidosis is seen mostly in
Caucasian patients and these patients may have a protracted course young adults.
with severe morbidity and residual impairments. 7,8
Late onset sarcoidosis in children presents as a multisystem disor-
der, with lung involvement most common. 6 Up to 60 percent of
onset.
children have an abnormal chest x-ray at initial presentation, with ~ Early:
Presents within the rst four years of life.

I
I Predominantly Caucasian patients.

I Progressive and debilitating course
~ Late:
I Older children, adolescence.
I
I Predominantly African American patients.
subcutaneous nodules, and in ltrative scars.
sarcoidosis and is the most common associated skin nding
exhibit an increased risk of involvement thus implying a

FIGURE 150-1 Pap ular le sions of sarcoid osis on the face of a 4-year-old genetic component. 15
b oy. (Used with pe rmission from Weinb e rg SW, Prose NS, Kristal L. Color
Atlas of Pediatric Dermatolog y, 4th e dition, Fig ure 15-23, New York, NY:
McGraw-Hill, 2008.) organ systems with an unknown etiology.
PART 14
862 CHAPTER 150
DERMATO LO GY
-
ence of circumscribed granulomas of epithelioid cells with little or
no caseating necrosis, although brinoid necrosis is not uncommon.
the thickness of dermis and extend to the subcutaneous tissue.

These granulomas are referred to as “naked” because they only have
a sparse lymphocytic in ltrate at their margins.
RISK FACTO RS
in this population.
DIAGNO SIS
CLINICAL FO RMS O F DISEASE

Cutaneous involvement is either speci c or nonspeci c.
~ Typical noncaseating granulomas, no evidence of infection, foreign

body, or other causes.
~
~ Papules, plaques or nodules is most common, red-brown or

purplish, usually smaller than 1 cm, and found mostly on face,
neck, upper back, and limbs (Figure 150-2).
~ Lupus pernio type sarcoidosis (Figures 150-3 to 150-5) presents as
purplish lesions resembling frostbites with shiny skin covering them,
typically affecting nose, cheeks, ears, and lips.
~ Plaque sarcoidosis is typically chronic, occurring over the forehead,
extremities, and shoulders, but may heal without scarring.
~ FIGURE 150-2 Maculop apular sarcoid osis on the le g . (Use d with
p ermission from Amor Khachemoune, MD.)
or violaceous without epidermal involvement are typically seen
in advanced systemic sarcoidosis.
~ Areas of old scars that are damaged by trauma, radiation, sur-
gery, or tattoo may also be in ltrated with sarcoid granulomas
(Figures 150-6 and 150-7). Lesions may be tender and appear
indurated with red or purple discoloration.
tender to touch, especially when they occur with fever, polyar-

thralgias, and sometimes arthritis and acute iritis.
~
lower extremities, most commonly the anterior tibial surfaces,

ankles, and knees.
~
color stages: rst bright red, then purplish, and lastly a bruise-like
yellow or green appearance.
~
conjunction with hilar lymphadenopathy (bilateral most often),
scarring.
~ Early-onset childhood sarcoidosis may present with enchondro- FIGURE 150-3 Lup us p e rnio typ e sarcoid osis involving the nasal rim.
matosis. 16 (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 150-6 Sarcoidal plaque of the knee, which appeared after a

trauma to the knee. (Used with permission from Amor Khachemoune, MD.)
FIGURE 150-4 Lup us p e rnio typ e sarcoid osis with violace ous scarre d
p laq ue s on che e k of a child . (Use d with p e rmission from Kane K, Lio PA, ~ Age related variations in normal serum ACE levels should be
Stratig os AJ, Johnson RA. Color Atlas & Synop sis of Pe d iatric De rma- taken into account as values of 40 to 50 percent higher than in
tolog y, 2nd e d ition, Fig ure 15-18, Ne w York, NY: McGraw-Hill, 2009.)
adults have been observed in children younger than 15 years. 11,17
LABO RATO RY STUDIES chitin may be a potential marker for disease activity:
~ Chitotriosidase activity was found to be correlated with SACE
~ Leukopenia, eosinophilia, and anemia may be seen. and lung CT scores for sarcoidosis. 18
Serum calcium and 24-hour urine calcium levels:
~ Hypercalciuria has been found in 49 percent of patients in some aminotransferase, alkaline phosphatase, blood urea nitrogen
studies, whereas 13 percent of patients had hypercalcemia.
~ Hypercalcemia occurs in sarcoidosis because of increased intestinal proteinuria, hematuria, leucocyturia and concentration defect.
absorption of calcium that results from overproduction of a These levels may be elevated with hepatic and renal involvement.
metabolite of vitamin D by pulmonary macrophages.
and renal failure may be noted.
FIGURE 150-5 Lup us p e rnio (sarcoid osis) with violace ous p ap ule s and
p laq ue s around the e ye and on the che e k of a child . (Use d with p e rmis-
sion from We inb e rg S, Prose NS, Kristal L. Color Atlas of Pe d iatric De r- FIGURE 150-7 Sarcoid on a he art-shap e d home mad e tattoo ove r the
matolog y, 4th e d ition, Fig . 15-25, McGraw-Hill, 2008.) kne e . (Use d with p e rmission from Amor Khache moune , MD.)
PART 14
864 CHAPTER 150
DERMATO LO GY
IMAGING STUDIES ~
Afro-Caribbean childhood eruption (FACE), GPD occurs in

~ Intrathoracic lymphadenopathy involving the right paratracheal prepubertal children and is usually self limited. 20
area and both hila are detected in 95 percent of cases. 19
~ ~
.
~
disease shows pulmonary brosis. appearing around the upper cheeks and lower eyelids.
~
-
tous in ltration. Other ndings may include small nodules with a They are benign yellow macules, papules, or plaques often
bronchovascular and subpleural distribution, thickened interlobular appearing on the eyelids. Approximately one half of the patients
septae, honeycombing, bronchiectasis, and alveolar consolidation. with xanthelasma have a lipid disorder (see Chapter 193, Hyper-
~
and obstructive abnormalities may be found.
violaceous papules and plaques. It may present in different body
locations but the most common areas are the wrists and ankles
BIO PSY
(see Chapter 138, Lichen Planus).
~
dermis. uniform papules involving the face.

~
tissue. patients. It presents with multiple perifollicular papules and

nodules. The most common location is the back of the neck at
stains and cultures to rule out infectious causes. the hairline.
~
patients with darker skin color, triggered by ingrown hair involving

DIFFERENTIAL DIAGNO SIS the beard area.
Figure 150-9):
Figure 150-8). ~
~ Granuloma annulare (GA) is also a granulomatous skin disease, also Chapter 148, Granuloma Annulare).
which appears in single or multiple rings in adults and children
(see Chapter 148, Granuloma Annulare).
~
diagnosed rheumatoid arthritis with joint disease present (see
~ -
ous lymphoma with many clinical forms including granuloma
formation.
FIGURE 150-8 Granulomatous p laq ue s o f b iop sy p rove n sarcoid osis

on the arm of a woman. She also has sarcoid osis of the lung . (Use d FIGURE 150-9 Violace ous sarcoidal papules coale scing into annular
with p e rmission from Richard P. Usatine , MD.) plaques on the back. (Used with p ermission from Richard P. Usatine, MD.)
PART 14
DERMATO LO GY
In early onset disease, 80 to 100 percent of patients suffer from

chronic debilitating sequelae. 7,8
onset (fever, arthralgia, erythema nodosum) is associated with a

remission rate of 80 to 90 percent. 23
-
adenopathy are associated with poorer prognosis. 11
24
FO LLO W-UP
Patients with cutaneous sarcoidosis should be worked up for systemic
FIGURE 150-10 Sarcoid osis of the e ye with involve me nt of the con-

junctiva and in ltration of the inne r lowe r e ye lid . (Use d with p e rmission
from Richard P. Usatine , MD.) PATIENT EDUCATIO N
Inform patients about the risk that systemic sarcoidosis can occur
MANAGEMENT even if the skin is the only area currently involved.
PATIENT RESO URCES

and, therefore, the major rationale for treatment is to prevent or
minimize dis gurement. Cosmetic issues are particularly important www.nhlbi.nih.gov/ health/ dci/ Diseases/ sarc/
on the face. Also, the lesions can be painful. sar_whatis.html.
3
SO R
PRO VIDER RESO URCE
azathioprine cyclophosphamide and cyclosporin. 21,22 SO R http:// emedicine.medscape.com/ article/ 1123970.

REFERRAL
REFERENCES
sarcoidosis. -
trum and course of juvenile sarcoidosis. .
(Figure 150-10).
2. Shetty AK, Gedalia A. Childhood sarcoidosis: a rare but fascinating
- disorder.
uloendothelial, musculoskeletal, renal, cardiovascular, neurologic, 3. Shetty AK, Gedalia A. Sarcoidosis: a pediatric perspective.
work-up should dictate appropriate referral.
PREVENTIO N AND SCREENING .
As the cause remains to be elucidated, no preventative measures have

been established. Patients presenting with cutaneous sarcoidosis sarcoidosis.
should be screened as clinically indicated. 7. Hetherington S. Sarcoidosis in young children.
136:13-15.
PRO GNO SIS
rare and the number of the reported cases is small. of sarcoidosis in children.
.
population.
PART 14
866 CHAPTER 150
DERMATO LO GY
Epidemiology in Danes, clinical features, diagnosis, treatment Typical and atypical manifestations of intrathoracic sarcoidosis.
and prognosis.
pitfall of silent neurosarcoidosis. dermatitis: a variant of granulomatous rosacea in children?
a child with sarcoidosis.

States and Canadian pediatric rheumatologists.
splenic lesions: a pictorial guide to differential diagnosis. 26:2036-2038.
control etiologic study of sarcoidosis (ACCESS). mechanism.
pulmonary involvement as a cardinal manifestation. .

onset childhood sarcoidosis with incidental multiple enchondroma-
tosis. -
and sarcoidotic children: comparison with the reference interval

for adults.
-
trou PS, et al. Prognostic value of chest radiograph, serumangio-
tensin-converting enzyme and T helper cell count in blood and in
bronchoalveolar lavage of patients with pulmonary sarcoidosis.
ERYTHEMA MULTIFO RME, STEVENS-JO HNSO N PART 14
SYNDRO ME, AND TO XIC EPIDERMAL NECRO LYSIS 867
DERMATO LO GY
SECTIO N 12 HYPERSENSITIVITY SYNDRO MES

AND DRUG REACTIO NS
151 ERYTHEMA MULTIFORME, his ocular (Figure 151-1B) and urethral mucosa along with an
erythematous papular rash on his trunk that spread to his extremi-
STEVENS-JO HNSO N ties. In Figure 151-1C, target lesions can be seen on the back. He
SYNDRO ME, AND TO XIC was diagnosed with Stevens-Johnson syndrome and admitted to the
hospital.
EPIDERMAL NECRO LYSIS
Carolyn Milana, MD INTRO DUCTIO N
Erythema multiforme (EM), Stevens-Johnson syndrome (SJS), and
toxic epidermal necrolysis (TEN) are skin disorders thought to be types
of hypersensitivity reactions (undesirable reactions produced by a nor-
PATIENT STO RY mal immune system in a presensitized host) that occur in response to
medication, infection, or illness. Both SJS and TEN are severe cutane-
A 14-year-old boy presents to the emergency department with ous reactions thought to describe the same disorder, only differing in
a 1-day history of fever associated with lip swelling and peeling severity (TEN, more severe); however, there is debate as to whether
(Figure 151-1A). Within 48 hours, he developed involvement of these three fall into a spectrum of disease that includes EM.
A B
FIGURE 151-1 Ste ve ns-Johnson synd rome in a 14-ye ar-old b oy who

re ce ive d p e nicillin for p ne umonia. A. Lip s and mouth are involve d .
C B. Eye involve me nt. C. Targ e t le sions on his b ack. (Use d with pe rmission
from Dan Stulb e rg , MD.)
PART 14
868 CHAPTER 151
DERMATO LO GY
A B
FIGURE 151-2 Erythe ma multiforme in a woman that re curs e ve ry time she b re aks out with g e nital he rp e s. A. Targ e t le sions on hand . B. Targ e t
le sions on e lb ow. (Use d with p e rmission from Richard P. Usatine , MD.)
Other less-common causative agents for EM, SJS, and TEN

SYNO NYMS include:
Mycobacterium tuberculosis, group A strepto-
cocci, hepatitis B, Epstein Barr virus, Francisella tularensis, Yersinia,
enteroviruses, Histoplasma, and Coccidioides. 1
a distinct entity different from all types of EM. 1
-
clines, cephalosporins, and quinolones), other anticonvulsants
EPIDEMIO LO GY (e.g., phenobarbital and valproic acid), 1,7
measles-mumps-rubella, poliomyelitis, and Calmette-Guérin

1
The true incidence of the disease bacillus. 6
is unknown. 1
pregnancy, connective tissue disease, and menstruation. 1
drugs. Reports of incidence vary from 1.2 to 6 per 1 million for SJS
2–4
females. 5
Numerous factors have been identi ed as causative agents for EM:
the cases (Figure 151-2). 6,7 The virus has been found in circulating
blood, 8 as well as on skin biopsy of patients with EM minor. 6
most commonly known to cause SJS and TEN in children are the
anticonvulsants phenytoin, carbamazepine, and lamotrigine fol-
lowed by sulfonamide antibiotics. FIGURE 151-3 Ste ve ns-Johnson synd rome with typ ical ap p e aring oral
mucosa showing he morrhag ic ulce rations and crusting in this young
Mycoplasma pneumoniae has been identi ed as the most common child . The child was d iag nose d with a re sp iratory Mycop lasma infe c-
infectious cause for SJS (Figure 151-3). 7 tion. (Use d with p e rmission from Camille Sab e lla, MD.)
DERMATO LO GY
FIGURE 151-4 Erythe ma multiforme on the p alm with targ e t le sions FIGURE 151-6 Erythe ma multiforme with ve sicle s and b liste ring of the
that have a d usky re d and white ce nte r. (Use d with p e rmission from the targ e t le sions on the hand . (Use d with p e rmission from the Unive rsity
Unive rsity of Te xas He alth Scie nce s Ce nte r, Division of De rmatolog y.) of Te xas He alth Scie nce s Ce nte r, Division of De rmatolog y.)
Although the pathogenesis of EM, SJS, and TEN remains unknown,

recent studies show that it may be as a result of a host-speci c cell- DIAGNO SIS
mediated immune response to an antigenic stimulus that activates
cytotoxic T-cells and results in damage to keratinocytes. 6 CLINICAL FEATURES
In all of these conditions, there is a rapid onset of skin lesions. EM is a
disease in which patients present with the following lesions:
appears to result from epidermal necrosis in the absence of substan-
tial dermal in ammation.
become target-like papules or plaques with an erythematous outer
border and central clearing (iris or bull’s-eye lesions) (Figures 151-4
to 151-7). Target lesions, although characteristic, are not necessary to
RISK FACTO RS
make the diagnosis. The center of the lesions should have some epi-
dermal disruption, such as vesicles or erosions.
when taking certain drugs. 2 with centers that can become dusky purple or necrotic.
2,9 once they appear they remain xed in place until healing occurs
many days to weeks later.
pruritus may be present.
FIGURE 151-5 Erythema multiforme with targ et lesions on the palms. FIGURE 151-7 Erythema multiforme on the d orsum of the hand show-
Note that the re are some central b ulla and crusts. (Use d with permission ing targ e ts with small, eroded cente rs. The re should be some ep id ermal
from We inberg SW, Prose NS, Kristal L. Color Atlas of Ped iatric Derma- erosion to d iag nose erythema multiforme. (Used with pe rmission from
tology, 4th ed ition, Figure 13-8, 2008, New York: McGraw-Hill.) the University of Texas Health Sciences Cente r, Division of Dermatolog y.)
PART 14
870 CHAPTER 151
DERMATO LO GY
FIGURE 151-8 Toxic e p id e rmal ne crolysis with e xte nsive d e sq uama-

tion of the skin on the face and lip s of a young child . (Use d with p e r- FIGURE 151-9 Ste ve ns-Johnson synd rome with d e b ilitating mucosal
mission from We inb e rg SW, Prose NS, Kristal L. Color Atlas of Pe d iatric involve me nt of the e ye s and mouth. Note the he morrhag ic ulce rations
De rmatolog y, 4th e d ition, Fig ure 13-13, 2008, Ne w York: McGraw-Hill.) and crusting . This young b oy re q uire d hosp ital ad mission for IV uid s
and sup p ortive care . (Use d with p e rmission from Kane KS, Lio P, Strati-
g os AJ, Johnson RA. Color Atlas and Synop sis of Pe d iatric De rmatol-
og y, 2nd e d ition, Fig ure 15-7, 2009, Ne w York: McGraw-Hill.)
2 weeks.
(Figure 151-2). 6,7

In both SJS andTEN, patients may have blisters that develop on dusky
form areas of central necrosis, bullae, and areas of denudation

(Figure 151-8).
2 mucosal surfaces, such as the eyes, oral cavity, upper airway,

esophagus, GI tract, or the anogenital mucosa (Figures 151-1,
151-3, and 151-9). A
Figure 151-10).
the child is handled.

-
ness is minimal.
well as an increased risk of bacterial superinfection and sepsis.
to blindness. Additional sequelae include bronchitis, pneumonitis,

myocarditis, hepatitis, enterocolitis, polyarthritis, hematuria, and
acute tubular necrosis.
TYPICAL DISTRIBUTIO N B
FIGURE 151-10 Toxic e p id e rmal ne crolysis se cond ary to amoxicillin.

A. Face with larg e are as of d e sq uamation and loss of p ig me ntation.
B. Skin d e taching from le g in larg e she e ts and b ullae . (Use d with
commonly involved. p e rmission from Richard P. Usatine , MD.)
DERMATO LO GY
Figures 151-1,
151-3, and 151-9).
in SJS and TEN (Figures 151-8 and 151-10).
The diagnosis is usually made based on clinical ndings.

-
aminases, and an elevated erythrocyte sedimentation rate.
BIO PSY
or to rule out other diseases.
of the epidermal cells and necrotic keratinocytes within the

epidermis. 1
FIGURE 151-11 We ll-ap p earing child with clinical p atte rn that could
sup p ort a d iag nosis of urticaria multiforme (UM) or erythema multiforme
(EM). Some of the targ e toid lesions have a d usky cente r (sup p orting EM)
b ut there is no d isrup tion of the e pithelium and no p almar involve me nt
(urticaria multiforme) can have targetoid patterns and be confused (sup p orting UM). Clinically, if ind ivid ual le sions last less than 24 hours,
with EM (Figure 151-11). resp ond to antihistamines and they itch that sup ports UM. If they persist,
b urn more than itch, involve p alms and soles and don’t resp ond to
- antihistamines it is more likely to be EM.
sists at least 5 days and there must be at least four of the following
features :
~ Acute: erythema of palms, soles; edema MANAGEMENT
of hands and feet; or subacute: periungual peeling of ngers and
EM
~ -
~ vided with topical emollients, systemic antihistamines, and acetamin-
~ - ophen. These do not, however, alter the course of the illness.
to prolong the course or increase the frequency of recurrences in

~ Cervical lymphadenopathy (>1.5 cm diameter), usually unilateral. 7
a hypersensitivity reaction, lesions are palpable papules or purpura. associated EM with some success. 7
Blisters, hives, and necrotic ulcers can occur on the skin. In
SJ S AND TEN
lesions are usually located on the legs, trunk, and buttocks. care or placement in a burn unit. Early diagnosis is imperative so
- that triggering agents can be discontinued.
of malaise and fever but is macular, brightly erythematous, and ini-

tially involves the face, neck, axilla, and groin. Skin is markedly
(aluminum acetate in water).
extracutaneous (e.g., otitis media, pharyngitis) and not the skin

lesions themselves (Chapter 99, Impetigo). systemic antibiotics should be started as needed.
PART 14
872 CHAPTER 151
DERMATO LO GY
high risk of ocular sequelae. of recurrence.
PATIENT RESO URCES

well studied in children. Evidence suggests that intravenous immu-
if started early in the course of the disease in adults; however, there ency/ article/ 000851.htm.
-
tions in children. PRO VIDER RESO URCES
Erythema Multiforme http:// emedicine
increase in morbidity and mortality when used for TEN. 11 Stevens-Johnson Syndrome http:// emedicine
alter severity and improve overall outcome better than supportive

therapy alone. 4 REFERENCES
-
inhibitors, cyclophospha- W, et al, eds. Textbook of Primary Care Medicine
mide, cyclosporine, and plasmapheresis.
and toxic epidermal necrolysis in a general hospital in Singapore:

PREVENTIO N treatment outcomes. Acta Derm Venereol.
of Stevens-Johnson syndrome and toxic epidermal necrolysis in

some researchers. 2
review of treatment of drug-induced Stevens-Johnson syndrome
PRO GNO SIS and toxic epidermal necrolysis in children. J Popul Ther Clin
Pharmacol.
Erythema Multiforme
infection.
have a large percentage of body surface area involved, or have Principles and Practice of Pediatric Infectious Diseases,
intestinal or pulmonary involvement.
score for TEN.12 This scoring system, however, was based on adult RM, Jenson HB, eds. Nelson Textbook of Pediatrics, 19th ed.
literature and many of the criteria cannot be applied to children.
J Invest
Dermatol.
long term sequelae, the most common involving the skin (hypopig- -
mentation and scaring) and eye (uveitis, keratitis, corneal defects, ysis of Stevens-Johnson syndrome and toxic epidermal necrolysis
4
Indian J Dermatol.
-
FO LLO W-UP -
ment for health professionals from the Committee on Rheumatic
-
Circulation
listed, follow-up should be arranged with the appropriate specialist.

11. Worswick S, Cotliar J. Stevens-Johnson syndrome and toxic
epidermal necrolysis: a review of treatment options. Dermatol
PATIENT EDUCATIO N Ther.
- a severity of illness score for toxic epidermal necrolysis. J Invest

ued immediately. Dermatol.
PART 14
ERYTHEMA NO DO SUM 873
DERMATO LO GY
152 ERYTHEMA NO DO SUM SYNO NYMS

Lofgren syndrome (with hilar adenopathy).
EPIDEMIO LO GY
PATIENT STO RY
A 9-year-old boy presented to the of ce with a 2-day history of fever and persons. It is the most frequent type of septal panniculitis (in am-
sore throat. At the time of presentation, he and his mother noted some mation of the septa of fat lobules in the subcutaneous tissue). 2
painful bumps on his lower legs, and denied trauma (Figure 152-1).
No history of recent cough or change in bowel habits was reported. The EN tends to occur more often in women, with a male-to-female
patient had no chronic medical problems, took no medications and had 3
no known drug allergies. On examination, his oropharynx revealed ton-
sillar erythema and exudates. Bilateral lower extremities were spotted
with multiple slightly-raised, tender, erythematous nodules that varied
in size from 2 to 6 cm. Rapid strep test was positive and he was diag-
nosed clinically with erythema nodosum (EN) secondary to group A
β-hemolytic Streptococcus. He was treated with penicillin and NSAIDs.
He experienced complete resolution of the EN within 6 weeks.
Figures 152-2). Although the exact percentage
This may be in uenced by the fact that EN may precede the underlying
INTRO DUCTIO N
illness. The distribution of etiologic causes may be seasonal.6 Identi -
able causes can be infectious, reactive, pharmacologic, or neoplastic.
EN is a common in ammatory panniculitis characterized by ill-
de ned, erythematous patches with underlying tender, subcutaneous -
nodules. It is a reactive process caused by chronic in ammatory acteristics of EN are a septal panniculitis without presence of vascu-
states, infections, medications, malignancies, and unknown factors. litis. That this pattern develops in certain areas of skin may be linked
to local variations in temperature and ef cient blood drainage.
the septa of fat lobules in the subcutaneous tissue. It is thought that

this is in response to existing immune complex deposition in these
FIGURE 152-2 Erythe ma nod osum p re se nting with te nd e r nod ule s on

FIGURE 152-1 Erythe ma nod osum on the le g of a b oy se cond ary to the p re tib ial are a of an ad ole sce nt. (Use d with p e rmission Kane KS, Lio
g roup A β -he molytic Stre p tococcus. (Use d with p e rmission from P, Stratig os AJ, Johnson RA. Color Atlas and Synop sis of Pe d iatric
Cle ve land Clinic Child re n’s Hosp ital Photo File s.) De rmatolog y, 2nd e d ition, Fig ure 15-4, McGraw-Hill, 2009.)
PART 14
874 CHAPTER 152
DERMATO LO GY
areas. 7 This in ammatory change consists of edema and hemorrhage

which is responsible for the nodularity, warmth, and erythema.
cells, to lymphocytes, and then histiocytes where brosis occurs

around the lobules. There may be some necrosis though minimal as
complete resolution without scarring is the typical course.
-
loma. This is a small, well-de ned nodular aggregate of small his-
tiocytes around a central stellate or banana-shaped cleft.
RISK FACTO RS
β -hemolytic streptococcal pharyngitis has been linked to

EN (Figure 152-1
several decades reports 28 percent had streptococcal infection.
role.
with EN, but TB is now a rare cause of EN in developed countries.

There are reports of EN occurring in patients receiving the bacille
8
including Yersinia gastroenteritis, Salmonella, Campylobacter, toxo- FIGURE 152-3 Erythema nod osum in a 14-ye ar old who was d iag nosed
plasmosis, syphilis, amebiasis, giardiasis, brucellosis, leprosy, with in ammatory bowel d ise ase. Erythe ma nod osum was the p re se nt-
ing manife station in this child , prior to the d evelop me nt of g astrointesti-
Chlamydia, Mycoplasma, Brucella, hepatitis B (infection and vaccine), nal symp toms. (Use d with permission from Camille Sabella, MD.)
Epstein-Barr virus, and Bartonella.
but may occur before a are (Figure 152-3

greater association between Crohn disease and EN than between
ulcerative colitis and EN. Other chronic diseases associated with color before eventually taking on the yellowish hue of a bruise.
EN include Behçet disease, sarcoidosis, and Sweet syndrome.
ulceration or scarring.
such as Histoplasmosis and Coccidioidomycosis.
- polyarthralgia sometime near eruption.
ceptives in the occurrence of EN.
are antibiotics including sulfonamides, penicillins, and bromides.

extremities (Figures 152-1 and 152-2).
However, the antibiotics may have been prescribed for the under-
lying infection that had caused EN. LABO RATO RY TESTING
pancreatic carcinoma are associated with EN and should be consid- include complete blood count, chemistries, liver function tests, and
ered in cases of persistent or recurrent EN. erythrocyte sedimentation rate. Erythrocyte sedimentation rate
may be elevated.
Streptococcus cases, rapid strep test or throat cultures
DIAGNO SIS
are best during acute illness, whereas antistreptolysin O titers may
be used in the convalescent phase.
CLINICAL FEATURES
but are neither sensitive nor speci c. 2

biopsy of a suspected sarcoid lesion can help make this diagnosis
palpated than visualized (Figure 152-2).
Figure 152-2). be obtained when tuberculosis is a consideration.

PART 14
ERYTHEMA NO DO SUM 875
DERMATO LO GY
BIO PSY common in multibacillary lepromatous leprosy. Although the

lesions often look like standard EN, the lesions may also ulcerate.
When the diagnosis is uncertain, a biopsy that includes subcutane- -
ous fat is performed. This can be a deep punch biopsy or a deep tial, especially in immunocompromised patients. These lesions are
incisional biopsy sent for standard histology. If a biopsy is needed, often asymmetric and the patient may be febrile. If suspected, a
this can be done by choosing a lesion not over a joint or vital struc- punch biopsy of a lesion should be sent for tissue culture (bacteria,
fungus, and Mycobacteria).
to guide treatment unless an underlying cause is found.

to be sicker and have more fever and systemic symptoms. EN tends
to appear in multiple locations while cellulitis is usually in one
NO NPHARMACO LO GIC
bedrest, gradient support stockings, or pressure bandages may help

violaceous without epidermal involvement. The lack of surface
alleviate the pain. SO R
involvement makes this resemble EN. Subcutaneous sarcoid may be
seen in advanced systemic sarcoidosis that can also be the cause of
MEDICATIO NS
EN. Skin biopsy is the best method to distinguish between these
two conditions. Either way, treatment is directed toward the
other analgesics. SO R
on the posterior lower extremity of women with tendency of unless it is being used to treat the underlying cause (such as sarcoid-
lesions to ulcerate with residual scarring. 7 This condition is typi- osis) and if underlying infection, risk of bacterial dissemination or
cally caused by TB and is more chronic in nature than EN. 2 sepsis, and malignancy have been excluded. SOR
and probably represent an immune complex or hypersensitivity to resolution of EN in several small studies. 6,7 SO R
reaction (Figure 152-4). Erythema nodosum leprosum is typically
seen as a type 2 reaction to standard leprosy therapy. It is more well. 2,7 SOR
A B
FIGURE 152-4 Erythe ma nod osum le p rosum (ENL) in a p atie nt who acq uire d multib acillary le p rosy from hand ling and e ating armad illos. His ENL
starte d whe n he starte d the antib acte rial tre atme nt. A. Note the many sub cutane ous nod ule s on his arms and le g s. B. Close -up of the ENL le sio ns.
PART 14
876 CHAPTER 152
DERMATO LO GY
- REFERENCES
mycin, adalimumab, etanercept, in iximab, mycophenolate
mofetil, cyclosporine, thalidomide, and extracorporeal monocyte disease. Am Fam Physician.
granulocytapheresis. SOR
vasculitis and erythema nodosum. Clin Exp Rheumatol.

EN improvement. SOR
PREVENTIO N
nodosum and erythema induratum in a de ned population.
Arthritis Rheum.
respiratory infections that may predispose to EN.
Clin Exp Rheumatol.
PRO GNO SIS
Int J Dermatol.
-
ing disorder.
Clin Dermatol.
7. Requena L, Requena C. Erythema nodosum. Dermatol Online J.
Am Fam Physician.
etiology is unknown.
FO LLO W-UP Sequentially appearing erythema nodosum, erythema multiforme
J Med Case Rep

cause and to make sure that the patient is responding to symptom-
atic treatment.
PATIENT EDUCATIO N
Reassure the patient that there is complete resolution in most cases

Dermatol Ther.
within 3 to 6 weeks. Inform the patient that some EN outbreaks may
6 Dermatol
Clin
PATIENT RESO URCES
-
ogy. Erythema Nodosum—http:// pediatrics.med.nyu.edu/ J Dermatol.
rheumatology/ conditions-we-treat/ conditions/
erythema-nodosum. epidemiological study of 386 patients in west Nepal. Lepr Rev.
Erythema Nodosum—www.medicinenet.com/
erythema_nodosum/ article.htm.
indomethacin. Acta Derm Venereol.
Erythema Nodosum—http:// emedicine Treatment of Skin
.medscape.com/ article/ 1081633-overview. Disease
disease. Am Fam Physician

http:// www.aafp.org/ afp/ 2007/ 0301/ p695.html. Dermatol Ther.
Erythema Nodosum— -
www.pediatricsconsultant360.com/ content/ cyclines. J Am Acad Dermatol.
erythema-nodosum.
PART 14
VASCULITIS 877
DERMATO LO GY
153 VASCULITIS
Nathan Scott Martin, MD
PATIENT STO RY
A previously healthy 11-year-old girl presents to her pediatrician with

a rash on her legs and knee pain. She admits to having abdominal pain
the day before but her stomach is feeling better today. She denies
fever, nausea, vomiting, and diarrhea. The right knee hurts suf ciently
that she has been limping since she woke up. Upon exam the child is
afebrile and does not appear to be in distress. She has an impressive
rash on her legs with right knee swelling (Figure 153-1). The rash is
petechial and purpuric and slightly palpable. The linear pattern run-
ning down the thigh matches the seams of her pants. A urinalysis per-
formed in the of ce reveals blood in the urine but no protein. The
pediatrician diagnoses Henoch Schonlein purpura (a type of vasculitis)
and discusses the treatment plan with the girl and her mother.
INTRO DUCTIO N FIGURE 153-2 He noch-Schönle in p urp ura p re se nting as p alp ab le

p urp ura on the lowe r e xtre mity. The visib le sock line s are from le sions
that forme d whe re the socks e xe rte d p re ssure on the le g s. (Use d with
Vasculitis refers to a group of disorders characterized by in ammation p e rmission from Richard P. Usatine , MD.)
and damage in blood vessel walls. They may be limited to skin or may
be a multisystem disorder. Cutaneous vasculitic diseases are classi ed
according to the size (small versus medium to large vessel) and type
of blood vessel involved (venule, arteriole, artery, or vein). Small and
medium-size vessels are found in the dermis and deep reticular der- EPIDEMIO LO GY
mis, respectively. The clinical presentation varies with the intensity
of the in ammation, and the size and type of blood vessel involved. 1 Figures 153-1 to 153-3) occurs mainly in children with an
Hypersensitivity vasculitis (HSP) is also known as leukocytoclastic incidence of approximately 1 in 5000 children annually. 2 It is the
vasculitis. HSP is a type of leukocytoclastic vasculitis. most common vasculitis in the pediatric population. 3
A B
FIGURE 153-1 He noch-Schönle in p urp ura in an 11-ye ar-old g irl. A. In ad d ition to the p alp ab le p urp ura, this p atie nt also had ab d ominal p ain.
Note how the se am of he r je ans is visib le in the p urp uric p atte rn. B. She also had kne e p ain and swe lling and was walking with a limp . (Use d with
PART 14
878 CHAPTER 153
DERMATO LO GY
FIGURE 153-3 Close -up of p alp ab le p urp ura from the p atie nt in
Fig ure 153-2. Some le sions look like targ e t le sions b ut this is He noch- FIGURE 153-4 Le ukocytoclastic vasculitis on the le g of a young
Schönle in p urp ura and not e rythe ma multiforme . (Use d with p e rmission woman. (Use d with p e rmission from Richard P. Usatine , MD.)
ages 2 to 6 years old. 3–5 The disease affects an estimated 70.3 per Figures 153-4 and 153-5) is the most
100,000 children per year with a male to female ratio of 1.2:1. 3,4 commonly seen form of small vessel vasculitis. Prodromal symp-
toms include fever, malaise, myalgia, and joint pain. The palpable
black children. 3,4 purpura begins as asymptomatic localized areas of cutaneous hem-
orrhage that become palpable. Few or many discrete lesions are
100 times greater than adults, HSP is typically less severe in the most commonly seen on the lower extremities but may occur on
pediatric population. 6 any dependent area. Small lesions itch and are painful, but nodules,
for 1 to 4 weeks, and may heal with residual scarring and hyperpig-
ETIO LO GY AND PATHO PHYSIO LO GY mentation. Patients may experience 1 episode (drug reaction or
usually self-limited and con ned to the skin. To make the diagnosis,
springtime. It results from immunoglobulin (Ig) A-containing look for presence of 3 or more of the following:9
immune complexes in blood vessel walls in the skin, kidney, and GI
tract. A streptococcal or viral upper respiratory infection often pre-
cedes the disease by 1 to 3 weeks. Prodromal symptoms include
anorexia and fever. Most children with HSP also have joint pain and
swelling with the knees and ankles being most commonly involved
(Figure 153-1). In half of the cases there are recurrences, typically
in the rst 3 months. Recurrences are more common in patients
venule. Systemic manifestations of leukocytoclastic vasculitis may
with nephritis and are milder than the original episode. To make the
include kidney disease, heart, nervous system, GI tract, lungs, and
diagnosis of HSP, the patient should have palpable purpura or pete-
joint involvement.
chiae more in lower limbs and one or more of the following:7,8
mechanisms of vascular damage consist of a humoral response,

immune complex deposition, or cell-mediated T-lymphocyte
response with granuloma formation. 10
PART 14
VASCULITIS 879
DERMATO LO GY
A B
FIGURE 153-5 Le ukocytoclastic vasculitis in a young man. A. Palp ab le p urp ura on the lowe r le g . B. Involve me nt of the lowe r ab d ome n.
-
cular permeability, vessel weakening, aneurysm formation, hemor- DIAGNO SIS
rhage, intimal proliferation, and thrombosis that result in obstruc-
tion and local ischemia. 10
is more important than identifying the type of vasculitis, so that
-
organs at risk of damage are not jeopardized by delayed or inad-
gens (drugs, chemicals, microorganisms, and endogenous antigens),
equate treatment. It is critical to distinguish vasculitis occurring
with formation of circulating immune complexes that are deposited
as a primary autoimmune disorder from vasculitis secondary to
in walls of postcapillary venules. The vessel-bound immune com-
infection, drugs, malignancy, or connective tissue disease such
plexes activate complement, which attracts polymorphonuclear leu- 10
kocytes. They damage the walls of small veins by release of lyso-
somal enzymes. This causes vessel necrosis and local hemorrhage.
CLINICAL FEATURES
causes serious internal organ dysfunction, except when the kidney is

palpable purpura mainly on the lower extremities and buttocks
involved. Small-vessel vasculitis is associated with leukocytoclastic
(Figures 153-1 to 153-3), GI symptoms, arthralgia, and
vasculitis, HSP, essential mixed cryoglobulinemia, connective tissue
nephritis.
diseases or malignancies, serum sickness, and serum sickness-like
-
mation and necrosis of venules in the dermis. The term leukocyto-
clastic vasculitis describes the histologic pattern produced when leu-
kocytes fragment.
Figure
153-6) and other connective tissue disorders develop an associated
necrotizing vasculitis. It most frequently involves the small muscu-
lar arteries, arterioles, and venules. The blood vessels can become
blocked leading to tissue necrosis (Figure 153-6). The skin and
internal organs may be involved.
RISK FACTO RS
FIGURE 153-6 Ne crotizing vasculitis in a young Asian woman with

syste mic lup us e rythe matosus. The circulatio n to the ng e rtip s was
comp romise d and the woman was tre ate d with hig h-d ose intrave nous
ste roid s and intrave nous immunog lob ulins to p re ve nt tissue loss. (Use d
Figure 153-7). with p e rmission from Richard P. Usatine , MD.)
PART 14
880 CHAPTER 153
DERMATO LO GY
A B
FIGURE 153-7 A. Cutane ous vasculitis of the e ar cause d b y le vamisole -ad ulte rate d cocaine . (Use d with p e rmission from Jo na-
than Karne s, MD.) B. Cutane ous vasculitis in a re tiform (ne t-like ) p atte rn cause d b y the use of le vamiso le -ad ulte rate d cocaine .
This is calle d re tiform p urp ura. (Use d with p e rmission from John M. Martin IV, MD.)
function studies, hepatitis serologies, urinalysis, and possibly chest

of small blood vessels, and may be identi ed by the nding of
“palpable purpura.” The lower extremities typically demonstrate
“palpable purpura,” varying in size from a few millimeters to BIO PSY
several centimeters (Figures 153-1 to 153-5). In its early stages, -
leukocytoclastic vasculitis may not be palpable. ally unnecessary. In doubtful cases, a punch biopsy should be taken
from an early active (nonulcerated) lesion or, if necessary, from the
TYPICAL DISTRIBUTIO N edge of an ulcer.
be seen on the hands and abdomen (Figures 153-1 to 153-5). patients with nephritic/ nephrotic presentation, raised creatinine,
hypertension, oliguria, heavy proteinuria (urine albumin/ urine cre-
LABO RATO RY TESTING atinine Ratio persistently > 100 mg/ mmol), persistent proteinuria
(> 4 weeks), or GFR < 80. 11
immunologic reaction. Consider throat culture, antistreptolysin-O
titer, erythrocyte sedimentation rate, platelets, complete blood
serum protein electrophoresis, circulating immune complexes,
rheumatoid factor. The erythrocyte sedimentation rate is almost younger persons that may occur on the leg or in other parts of the
always elevated during active vasculitis. Immuno uorescent studies body (Figures 153-8 to 153-10). The color may be yellow brown
are best done within the rst 24 hours after a lesion forms. The or golden brown.
most common immunoreactants present in and around blood ves-
sels are IgM, C3, and brin. The presence of IgA in blood vessels of type that has an annular appearance with prominent elevated
a child with vasculitis suggests the diagnosis of HSP. erythematous borders that may have telangiectasias (Figure 153-11).
A dermatoscope can help to visualize the red or pink dots that
affected should include serum creatinine, creatinine kinase, liver represent in amed capillaries in these conditions.
PART 14
VASCULITIS 881
DERMATO LO GY
FIGURE 153-10 Liche n aure us (p ig me nte d p urp uric d e rmatosis) of the

p op lite al fossa in a te e nag e g irl showing he mosid e rin d e p osits and a
caye nne p e p p e r cap illaritis. Note that this cond ition is not p alp ab le
b ut the cosme tic ap p e arance is d istre ssing to this te e n. (Use d with p e r-
with or without central nervous system symptoms (Figure 153-12).

FIGURE 153-8 Liche n aure us on the le g of a 16-ye ar-old g irl. The lig ht
p ink color is typ ical and it ofte n is some what round or annular. De rmos-
cop y or mag ni cation shows p inp o int cap illarie s with lig ht he mosid e rin with pink to bright red, discrete 1- to 5-mm macules that blanch
d e p osits. (Use d with p e rmission from Richard P. Usatine , MD.) with pressure and may be pruritic. The lesions start distally and
spread to the soles and palms (see Figure 175-5).
from vasculitis by measuring the platelet count. Also, the purpura

is usually not palpable and the petechiae can be scattered all over
the body (Figure 153-13).
FIGURE 153-9 Liche n aure us (p ig me nte d p urp uric d e rmatosis) on the

le g of an 8-ye ar-old b oy showing he mosid e rin d e p osits and a caye nne FIGURE 153-11 Pig me nte d p urp uric d e rmatosis of the Majocchi typ e .
p e p p e r cap illaritis. Note that this cond ition is hyp e rp ig me nte d and not Note the annular ap p e arance and the p romine nt e le vate d e rythe ma-
p alp ab le . (Use d with p e rmission from Richard P. Usatine , MD.) tous b ord e rs. (Use d with p e rmission from Suraj Re d d y, MD.)
PART 14
882 CHAPTER 153
DERMATO LO GY
discontinuing the offending drug may be all the treatment that is

necessary. SOR
MEDICATIO NS
nonsteroidal antiin ammatory drugs is usually preferred. Treat-

ment with corticosteroids may be of more bene t in patients with
more severe disease such as more pronounced abdominal pain and
renal involvement. 14 SOR Adding cyclophosphamide to the
steroids may also be effective. SO R Azathioprine also may be
used. 15
SOR
severe cases of vasculitis of the skin. Short courses of prednisone

FIGURE 153-12 Pe te chiae of me ning ococce mia on the trunk of a hos- (1 mg/ kg/ day) are effective and should be tapered slowly over
p italize d ad ole sce nt. (Use d with p e rmission from Tom Moore , MD.) 2 weeks. 12,13 SOR
been used in adults but data is limited on their effectiveness in

- pediatric patients. SOR
terized by necrotizing granulomatous in ammation and vasculitis of
the respiratory tract, kidneys, and skin.
proteinuria related to vasculitis but data is still inconclusive on
long-term bene t to preserving renal function. 17
with a systemic vasculitis associated with asthma, transient pulmo-
nary in ltrates, and hypereosinophilia.
PRO GNO SIS
pain, livedo reticularis (blue-red mottling of the skin in a net-like
pattern), and/ or blue toes in the presence of good peripheral
pulses. lesions usually resolve without sequelae. Visceral involvement
(such as kidney and lung) most commonly occurs in HSP, cryo-
16
-
MANAGEMENT nal organ involvement should prompt an investigation for coexis-
tent medium-size vessel disease and referral to a rheumatologist.
NO NPHARMACO LO GIC
FO LLO W-UP
autoimmune disease. Regular monitoring is necessary.
PATIENT EDUCATIO N
vasculitis resolve spontaneously.
PATIENT RESO URCES

Vasculitis (Arteritis, Angiitis)—
www.medicinenet.com/ vasculitis/ article.htm.
-
house. Henoch-Schönlein Purpura—http:// kidney.niddk.nih
.gov/ kudiseases/ pubs/ HSP/ .
What Is Vasculitis?—
FIGURE 153-13 Pe te chiae and p urp ura in a p atie nt with id iop athic
thromb ocytop e nic p urp ura and a p late le t count of 3000. Note that this www.nhlbi.nih.gov/ health/ dci/ Diseases/ vas/ vas_
p urp ura is not p alp ab le . (Use d with p e rmission from Richard P. Usatine , whatis.html.
MD.)
PART 14
VASCULITIS 883
DERMATO LO GY

criteria for Henoch-Schönlein purpura, childhood polyarteritis
management of systemic vasculitis. Am Fam Physician 1999:60:
1421-1430—www.aafp.org/ afp/ 991001ap/ 1421.html. Takayasu arteritis: Ankara 2008. Part II: Final classi cation
criteria. Ann Rheum Dis
Am Family Physician www.aafp.org/
afp/ 2011/ 0301/ p556.html. of Rheumatology 1990 criteria for the classi cation of hypersen-
sitivity vasculitis. Arthritis Rheum
Am
REFERENCES Fam Physician
Pediatric
every rheumatologist should know about vasculitis of the skin. Nephrology
Curr Opin Rheumatol
Valverde V. Clinical features and outcome of 95 patients with
hypersensitivity vasculitis. Am J Med.
rare vasculitides in children of different ethnic origins. Lancet
of cutaneous leukocytoclastic vasculitis. Results of a prospective,
- randomized controlled trial. Arch Dermatol.
ment of Henoch-Schonlein purpura. Eur J Pediatr 1399-1402.
643-650.
Henoch-Schonlein purpura: A systematic review. Pediatrics.
120:1079-1087.
rare vasculitides in children of different ethnic origins. Lancet. 15. Saulsbury FT. Henoch-Schönlein purpura. Curr Opin Rheumatol
-
- management of systemic vasculitis. Am Fam Physician.
tricians on incidence and diagnostic criteria. Ann Rheum Dis 1421-1430.
66(12):1648-1650. 17. Zaffanello, M. & Fanos,V. 2009. Treatment-based literature of
Best Pract Res Clin Henoch-Schonlein purpura nephritis in childhood. Pediatric
Rheumatol Nephrology
-
ity vasculitis and Henoch-Schönlein purpura: a comparison
between the 2 disorders. J Rheumatol.
CUTANEO US DRUG
REACTIO NS
Anna Allre d , MD
β
PART 14
885
DERMATO LO GY
FIGURE 154-3 Urticarial d rug e rup tion se cond ary to trime thop rim/ FIGURE 154-4 Giant urticarial e rup tion (urticaria multiforme ) in the
sulfame thoxazole . ( .) patient in Fig ure 154-3 with drug reaction to sulfa. (
.)
Table 154-2

Figures 154-3
154-4
Figures 154-5 154-8
Figure 154-9
Tables 154-1
FIGURE 154-5 Fixe d d rug e rup tion to trime thop rim/sulfame thoxazole
with hyperpig mented plaques in a 10-year-old boy. (
.)
PART 14
886 CHAPTER 154
DERMATO LO GY
A B
FIGURE 154-6 Fixe d d rug e rup tion to ib up rofe n with violace ous
and hyp e rp ig me nte d macule s and e rosions on the p e nis. (
.)
A B
FIGURE 154-8 Fixe d d rug e rup tion to hyd rocod one on the A. arm and
B. should e r. ( .)
RISK FACTO RS
FIGURE 154-7 Third e p isod e of xe d d rug e rup tion to d oxycycline .
Note how the ng e r le sion is similar to a targ e t le sion in e rythe ma mul-
tiforme . Howe ve r, the re is no ce ntral e p ithe lial d isrup tion in this targ e t
le sion. ( .)
PART 14
887
DERMATO LO GY
TABLE 154-2 Fre q ue ncy of Various Classe s of Drug s Associate d with

an Erup tion (in case s with <4 susp e cte d d rug s)
Class o f Drug No . o f Case s (N = 82)

Antib iotic 37
Antie p ile p tic 12
Phe nytoin 9
Antiarrhythmic 6
Calcium ion inhib itors 3
Anticoag ulant 5
Enoxap arin 2
Clop id og re l 2
Warfarin 1
FIGURE 154-9 Bullous xe d d rug e rup tion with a d usky color and an
annular p ink b ord e r on the ankle . ( Antifung al 4
.)
Antig out 4
Proton p ump inhib itors 4
ACE1 inhib itors 3
Contrast 3
Diure tics 3
Anti-in ammatory 2
Antire troviral (HIV) 2
Antiviral 2
Be ta b locke rs 2
Che mothe rap e utic 2
O the r 11
1
ACE, Ang iote nsin-conve rting e nzyme .
Ge rson D, Srig ane shan V, Ale xis JB.
Cutane ous d rug e rup tions: a 5-ye ar e xp e rie nce .
. 2008 De c;59(6):995-999.
TABLE 154-1 Alle rg ic Cutane ous Re actions to Drug s Re ce ive d b y at Le ast 1000 Patie nts
Re act io ns, Re cip ie nt s, Rat e , 95 Pe rce nt Co n d e nce

Drug No . No . Pe rce nt Int e rval
Fluoroq uinolone s 16 1015 1.6 0.8 to 2.3
Amoxicillin 40 3233 1.2 0.9 to 1.6
Aug me ntin 12 1000 1.2 0.5 to 1.9
Pe nicillins 63 5914 1.1 0.8 to 1.3
Nitrofurantoin 7 1085 0.6 0.2 to 1.1
Te tracycline 23 4981 0.5 0.3 to 0.7
Macrolid e s 5 1435 0.3 0.0 to 0.7
Re p rinte d from: van d e r Lind e n PD, van d e r Le i J, Vlug AE, Stricke r BH: Skin re actions to antib acte rial ag e nts in g e ne ral
p ractice . . 1998;(51)703-708. Cop yrig ht 1998, with p e rmission from Else vie r.
PART 14
888 CHAPTER 154
DERMATO LO GY
DIAGNO SIS
CLINICAL FEATURES AND TYPICAL DISTRIBUTIO N

(THE MO ST CO MMO N AND IMPO RTANT DRUG
ERUPTIO NS)
—
Figure 154-1
Figures 154-3 154-4

FIGURE 154-10 Erythe ma multiforme on the e lb ows. Note the e p ithe -
lial d isrup tion in the ce nte r of e ach targ e t le sion. (
.)
Figures 154-3 154-9
Figures 154-5 154-8
Figure 154-6
xed drug eruptions

Figure 154-9
—
Figure 154-10
Figure 154-11
FIGURE 154-11 Ste ve ns-Johnson synd rome se cond ary to a sulfa anti-
b iotic. ( .)
PART 14
889
DERMATO LO GY
FIGURE 154-13 Acute g e ne ralize d e xanthe matous p ustulosis (AGEP)

cause d b y a d rug e rup tion. The cluste rs of small p ustule s with e rythe m-
atous skin are se e n on the b uttocks. In this case , the p ustule s and e ry-
the ma cove re d major p ortions of the b ack and b uttocks. (
.)
FIGURE 154-12 Drug re action with e osinop hilia and syste mic symp -
toms synd rome (d rug re action, e osinop hilia, syste mic symp toms) in
a te e nag e g irl. Erythrod e rma has p e rsiste d b ut the p atie nt is fe e ling
b e tte r afte r tre atme nt and d ischarg e from the hosp ital. (
.)
Figure 154-12
Figure 154-13

PART 14
890 CHAPTER 154
DERMATO LO GY
MEDICATIO NS
Figure 154-11
SO R
SOR
SO R
SOR
SO R
SO R
SOR
SOR
MANAGEMENT
NO NPHARMACO LO GIC PREVENTIO N
SO R
PART 14
891
DERMATO LO GY

www.patient.co.uk/ doctor/ Drug-Eruptions.htm
http:// dermnetnz.org/ reactions/ drug-eruptions.html
Drug Eruptions http:// emedicine.medscape
.com/ article/ 1049474-overview
PRO GNO SIS
REFERENCES
Med Clin North Am.
Med Clin North Am.
J Allergy Clin
Immunol.
FO LLO W-UP
J Drugs Dermatol.
Skin Disease Diagnosis and Treatment
Am J Med.
PATIENT EDUCATIO N Med Clin North Am.
J Clin
Epidemiol
J Am Acad Dermatol.
CMAJ.
Med
Clin North Am.
Harrison’s Principles of Internal Medicine
Med Clin
PATIENT RESO URCES North Am.
Drug Allergies www.nlm.nih.gov/
medlineplus/ ency/ article/ 000819.htm JAmAcad Dermatol
Stevens-Johnson Syndrome www.mayoclinic
.com/ print/ stevens-johnson-syndrome/ DS00940/
DSECTION=all&METHOD=print Allergy
Clin Immunol Int.
SECTIO N 13 BULLO US DISEASE
CHRONIC BULLOUS
DISEASE OF CHILDHOOD
Holly H. Volz, MD
~
~
CLINICAL FEATURES
FIGURE 155-3
Figures 155-2 155-4
Figures 155-2 155-4
FIGURE 155-4
FIGURE 155-2
FIGURE 155-7
FIGURE 155-5

Figures 155-4 155-5

~
Figure 155-6
~
Figure 155-7
BIO PSY
FIGURE 155-6
Staphylococcus aureus
Figure 155-8
FIGURE 155-9
Figure 155-9
~
SYSTEMIC THERAPY
FIGURE 155-8
LO CAL THERAPY
PATIENT RESO URCES

http://
www.gosh.nhs.uk/ medical-conditions/ search-for-
medical-conditions/ chronic-bullous-disease-of-
childhood/

http:// emedicine.medscape.com/ article/
1063590
ermatologic and Cosmetic Procedures in Of ce Practice
www.usatinemedia.com
REFERENCES
Ann NY Acad Sci
J Cell Mol Med
Semin Cutan Med Surg
Clin Dermatol
Am Fam Physician
Dermatol Clin
Acta Paediatr Dermatol
Clin
Dermatol Clin
Dermatol Online J
Clin Dermatol
Dermatol Clin Clin Dermatol
Clin Dermatol
Clin Dermatol
PART 14
898 CHAPTER 156
DERMATO LO GY
156 PEMPHIGUS
Shashi Mittal, MD
PATIENT STO RY
A teenage boy presented with painful blisters on his face and mouth (Fig-
ure 156-1). The patient was referred to dermatology that day. The der-
matologist recognized likely pemphigus vulgaris (PV) and did shave biop-
sies for histopathology and direct immuno uorescence of facial vesicles/
bullae to con rm the presumed diagnosis. The patient was started on 60
mg of prednisone daily until the pathology con rmed PV. Steroid-sparing
therapy was then discussed and started in 2 weeks from presentation.
INTRO DUCTIO N FIGURE 156-2 Pe mp hig us vulg aris with e rosio ns of the lip s and
tong ue . The re are also e rosions of the g ums and p alate that are not
visib le . This p atie nt was in se ve re p ain whe n atte mp ting to e at or d rink
Pemphigus is a rare group of autoimmune bullous diseases of skin and uid s. (Use d with p e rmission from We inb e rg SW, Prose NS, Kristal L.
mucous membranes characterized by accid bulla and erosions. The Color Atlas of Pe d iatric De rmatolog y, 4th e d ition, Fig ure 14-1, Ne w
three main types of pemphigus are PV (with the pemphigus vegetans York, NY: McGraw-Hill 2008.)
variant), pemphigus foliaceous (with the pemphigus erythematosus
variant), and paraneoplastic pemphigus. All types of pemphigus cause ~ Most common form of pemphigus is in the US.
~ Annual incidence is 0.75 to 5 cases per 1 million population.
1
signi cant morbidity and mortality. Although pemphigus is not curable,
~ Usually occurs between 30 and 50 years of age, but can occur in
it can be controlled with systemic steroids and immunosuppressive med-
ications. These medications can be lifesaving, but also place pemphigus childhood. 2
~ Increased incidence in Ashkenazi Jews and persons of Mediter-
patients at risk for a number of complications. The word pemphigus is
derived from the Greek word pemphix, which means bubble or blister. ranean origin. 2
~ Pemphigus vegetans is a variant form of PV (Figures 156-5 and
156-6).
EPIDEMIO LO GY
Figure
Epidemiology of the three major types of pemphigus: 156-7).
Figures 156-1 to 156-4):
FIGURE 156-1 Pe mp hig us vulg aris on the face of a te e nag e b oy with

mouth involve me nt. Note the crusting that ap p e ars whe n the b ullae
e rod e . (Use d with p e rmission from We inb e rg SW, Prose NS, Kristal L. FIGURE 156-3 Pe mp hig us vulg aris involving the lip s and p alate .
Color Atlas of Pe d iatric De rmatolog y, 4th e d ition, Fig ure 14-2, Ne w This is se ve re ly p ainful, making it d if cult to e at or d rink. (Use d with
York, NY: McGraw-Hill, 2008.) p e rmission from Dan Shake d , MD.)
PART 14
PEMPHIGUS 899
DERMATO LO GY
FIGURE 156-6 Pe mp hig us ve g e tans in the g roin with b og g y in am-

FIGURE 156-4 Pe mp hig us vulg aris on the b ack with cruste d and mation and tumid g ranulation. (Use d with p e rmission from We inb e rg
intact b ullae . (Use d with p e rmission from of Eric Kraus, MD.) SW, Pro se NS, Kristal L. Color Atlas of Pe d iatric De rmatolo g y, 4th e d i-
tion, Fig ure 14-4, Ne w York, NY: McGraw-Hill, 2008.)
~ Variant forms include pemphigus erythematosus (resembles the

malar rash of lupus erythematosus) and fogo selvagem.
~
commonly thiol compounds like penicillamine, captopril, piroxicam,
1
teenagers and individuals in their 20. and others, like penicillin and imiquimod. 3 An environmental trigger
in the presence of susceptible human leukocyte antigen (HLA) gene is
~ Onset at age 60 years and older. suggested to induce autoantibodies in fogo selvagum. 1
~ Associated with occult neoplasms commonly lymphoreticular. -
moglein 1 and 3 molecules (Dsg1 and Dsg3). Dsg1 is present pre-
dominantly in the super cial layers of the epidermis, whereas Dsg3
ETIO LO GY AND PATHO PHYSIO LO GY is expressed in deeper epidermal layers and in mucous membranes.
As a result, clinical presentation depends on the antibody pro le. In
PV, a limited mucosal disease occurs when only anti-Dsg3 antibody
a process of separating keratinocytes from one another. This occurs
as a result of autoantibody formation against desmoglein (the adhe-
sive molecule that holds epidermal cells together). Separation of
epidermal cells leads to formation of intraepidermal clefts, which
enlarge to form bullae. 1
FIGURE 156-7 Pemphigus foliaceous in the pe rioral area without oral

mucosal involvement. This can be mistaken for impetigo as impetigo is
much more common than pemphigus. (Used with permission from
FIGURE 156-5 Pe mphig us ve g etans in the groin. (Used with p e rmission Weinberg SW, Prose NS, Kristal L. Color Atlas of Pediatric Dermatology,
from Eric Kraus, MD.) 4th edition, Figure 14-8, New York, NY: McGraw-Hill, 2008.)
PART 14
900 CHAPTER 156
DERMATO LO GY
is present, but extensive mucosal and cutaneous disease occurs
mucosal lesions are absent and the cutaneous lesions are super cial
because of isolated anti-Dsg1 antibody.
However, unlike PV, autoantibodies against plakin proteins (another
autoantibodies form a reliable marker for this type of pemphigus.
DIAGNO SIS
CLINICAL FEATURES
Figures 156-1 to 156-4)—Classical lesions
are accid bullae that rupture easily, creating erosions. Since bullae A
are short-lived, erosions are the more common presenting physical
nding (Figure 156-4). Lesions are typically tender and heal with
postin ammatory hyperpigmentation that resolves without scar-
but neither sign is diagnostic. A positive Asboe-Hansen sign occurs

when a bulla extends to surrounding skin while pressure is applied
off while lateral pressure is applied to unblistered skin during active

disease. Sometimes the Asboe-Hansen sign is also attributed to
with vegetating proliferation of the epidermis (Figures 156-5

and 156-6). Tumid granulation occurs with boggy in ammation
(Figure 156-6).
B
lesions described as “corn akes” are seen. Shallow erosions arise
when crusts are removed, but intact blisters are rare as the disease FIGURE 1 5 6 -9 A and B. Pe mp hig us foliace o us fro m he ad to toe in
is super cial (Figures 156-7 to 156-10). this yo ung child . The b liste r formatio n o ccurs hig h in the e p id e rmis
and is no t unusual to o nly se e “co rn ake ” crusting o f the skin with
no intact b liste rs. (Use d with p e rmissio n fro m We inb e rg SW, Pro se
NS, Kristal L. Co lo r Atlas o f Pe d iatric De rmato lo g y, 4th e d itio n,
Fig ure 14-6 (fo r p art A), Fig ure 14-7 (for p art B), Ne w Yo rk, NY:
McGraw-Hill, 2008.)
FIGURE 156-10 An intact acid b ullae that just ap p e are d on the le g

FIGURE 156-8 Pemphigus foliace ous on the back with supe r cial b listers of a p e rson with p e mp hig us foliace ous. (Use d with p e rmission from
and e rosions. (Use d with p e rmission from Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
PEMPHIGUS 901
DERMATO LO GY
FIGURE 156-11 Pe mp hig us foliace ous (e rythe matosus) on the face .

Note how the le sions have a b utte r y p atte rn on the che e k. (Use d with FIGURE 156-12 Dire ct immuno uore sce nce ag ainst immunog lob ulin
p e rmission from Jack Re sne ck, Sr., MD.) (Ig ) G antib od ie s surround ing ce lls of the e p id e rmis in a p atie nt with
p e mp hig us vulg aris. Note the chicke n-wire ap p e arance . (Use d with
p e rmission from Martin Fe rnand e z, MD, and Richard P. Usatine , MD.)
deposition in the intercellular spaces of the epidermis. The pattern of
squamous epithelium may be involved. Mucosal lesions may be Figure 156-12).
followed by skin lesions after weeks to months usually on scalp,
face, and upper torso. PV should be suspected if an oral ulcer DIFFERENTIAL DIAGNO SIS
persists beyond a month (Figures 156-2 and 156-3).
axilla, groin, and genital region (Figures 156-5 and 156-6). autoimmune bullous disorder in children. This subepidermal vesi-
culo-bullous disorder is characterized by linear IgA deposits at the
chest and back (Figures 156-7 to 156-10). When the facial dermal-epidermal junction. Typical lesions are described as “string
of pearls,” which is an urticarial plaque surrounded by vesicles and
erythematosus (Figure 156-11).
-
LABO RATO RY STUDIES tosis with crusted erosions and accid vesicles distributed in the
intertriginous areas (Figure 156-13). It most closely resembles
blood using indirect immuno uorescence. This is usually not neces-
sary unless the diagnosis is in question and further data are needed.
including liver function tests, creatinine, and glucose will be

needed as a baseline, as all the systemic therapies have signi cant
toxicities.
energy x-ray absorptiometry (DEXA) scan performed.
BIO PSY
-
ysis and site of deposition of antibody complexes help differentiate
pemphigus from other bullous diseases. Two specimens should be
sent. Perform a shave of the edge of the bulla to include the sur-
rounding normal appearing epidermis. This biopsy should be of the
freshest lesion with an intact bulla, if possible. Cut the specimen in
half and send the portion with the bulla in formalin for routine histo-
pathology. The second half should be perilesional adjacent normal
skin. This is sent on a gauze pad soaked in normal saline or Michel FIGURE 156-13 Haile y-Haile y d ise ase (b e nig n familial p e mp hig us)
with e rythe ma and p ustule s in the axilla. This is not true p e mp hig us b ut
- re se mb le s p e mp hig us ve g e tans. (Use d with p e rmission from Jonathan
B. Karne s, MD.)
PART 14
902 CHAPTER 156
DERMATO LO GY
pemphigus vegetans clinically but has a completely different patho-

physiology than true pemphigus. It is called benign because it is not PV, the most ef cacious cytotoxic drug to reduce steroid was
life-threatening. A 4-mm punch biopsy is adequate to make this found to be azathioprine, followed by cyclophosphamide (IV pulse
diagnosis as the histology is different than pemphigus. therapy), and mycophenolate mofetil. 5 SOR
deeper subepidermal layer. Mucous membrane involvement is rare. for childhood pemphigus. 10 SO R
6 SO R
In
3
deposition along the basement membrane. one small study of adults with pemphigus vulgaris, 8 (73%) of
11 patients receiving dapsone versus 3 (30%) of 10 receiving
grouped vesicles and erosions occur especially on the elbows and placebo reached the primary outcome of a prednisone dosage of
extensor surfaces. It is associated with gluten-induced enteropathy. 7.5 mg/ day or less. This was not statistically signi cant and only
showed a trend to ef cacy of dapsone as a steroid-sparing drug in
papillae with deposition of immunoglobulin (Ig) A antibody com- maintenance-phase PV. 11
-
can help diagnose the gluten-induced enteropathy (Chapter 157, apy in refractory cases of pemphigus. 6,12–14 SOR
adult patients, it was used as a 5-day cycle to treat pemphigus that
was relatively resistant to systemic steroids. In this multicenter study
of 61 adult patients with PV or foliaceous, there was a decrease in
MANAGEMENT disease activity subsequent to the cycle of IVIG. 14 SOR
Treatment of pemphigus should be undertaken in consultation with a

dermatologist. Treatment is directed initially at disease control and 12 months, resulting in a reduction of plasma cells secreting patho-
remission followed by disease suppression. The goal is to eventually
discontinue all medications and achieve complete remission. Unfor- weeks in addition to the standard immunosuppressive treatment. It
tunately, this goal is hard to achieve. Most studies of the treatment has shown promise in several case reports and cohort studies in the
of pemphigus have been performed in adults so the following recom- treatment of refractory cases of PV and foliaceus.15–18 SOR
mendations are based on a combination of adult studies and pediatric
case reports and expert reviews. Tre ating and p re ve nting comp lications of the rap y
SYSTEMIC THERAPY receiving oral corticosteroids. 19

Corticoste roid s
Oral steroids with a steroid-sparing adjuvant agent is the most effective exercise, and monitoring of blood sugars and hemoglobin A1c can
treatment for all forms of pemphigus (two randomized controlled trials be helpful.
4,5 SOR
LO CAL THERAPY
4–6 SO R
Mild
disease may be controlled with prednisone (or prednisolone) such as clobetasol, or with intralesional steroid injections; for
1 mg/ kg/ day but for rapidly progressive and extensive disease, a example, 20 mg/ mL triamcinolone acetonide. Isolated oral lesions
higher dose prednisone 2 mg/ kg/ day may be initiated. SO R In may be treated with steroid paste, sprays, or lozenges.
most cases, the prednisone daily will need to be continued for at
least 1 month. Once remission is induced, the dose is tapered by -
25 percent every 1 to 2 weeks to the lowest dose needed to suppress sium permanganate are useful in keeping lesions clean. Oral
recurrence of new lesions. 1 hygiene is crucial. Mouthwashes such as chlorhexidine 0.2 percent
or 1:4 hydrogen peroxide may be used. Topical anesthetics may be
used for pain. 6
serious side effects. Consequently, it is advisable to start adju-
vant steroid-sparing therapy within 2 to 4 weeks of treatment.
Adjuvant agents have a lag period of 4 to 6 weeks before they PRO GNO SIS
become effective, so starting them sooner allows for earlier
steroid taper. They may be used alone to maintain remission Pemphigus is a chronic group of diseases that are potentially life-
after steroid withdrawal. threatening. There is no cure and the long-term use of steroids and
immunosuppressive drugs places the patients at risk for a number of
Ad juvant ag e nts complications including infections, sepsis, steroid-induced diabetes,
and steroid-induced osteoporosis. Some patients will be lucky and go
cyclophosphamide, dapsone, and intravenous immunoglobulin. 6–10 into remission while others will need systemic therapy for life. Com-
The ef cacy of steroids have been shown to be enhanced when plications of treatment have become the greatest source of morbidity
combined with a cytotoxic drug. 5 and mortality in pemphigus.
PART 14
PEMPHIGUS 903
DERMATO LO GY
FO LLO W-UP
regimens for pemphigus vulgaris. J Am Acad Dermatol. 2007;
Prolonged follow-up is needed for medication adjustment and to 57:622-628.
monitor disease activity and drug side effects.
of pemphigus vulgaris. Br J Dermatol. 2003;149:926-937.
PATIENT EDUCATIO N
pemphigus vulgaris and pemphigus foliaceus. Dermatol Clin. 2011;
29:599-606.
of medications.
review of randomized controlled trials for pemphigus vulgaris and
sports. Similarly, oral lesions may be aggravated by nuts, spicy pemphigus foliaceus. JAmAcad Dermatol. 2011;64:903-908.
foods, chips, and dental plates and bridges. 9. Singh S. Evidence-based treatments for pemphigus vulgaris,
pemphigus foliaceus, and bullous pemphigoid: a systematic review.
local discomfort. Indian J DermatolVenereol Leprol. 2011;77:456-469.
10. Wananukul S, Pongprasit P. Childhood pemphigus. Int J Dermatol.
1999;38(1):29-35.
PATIENT RESO URCES double-blind, placebo-controlled, clinical trial of dapsone as a

Pemphigus—www.nlm.nih.gov/ medlineplus/ glucocorticoid-sparing agent in maintenance-phase pemphigus
pemphigus.html. vulgaris. Arch Dermatol. 2008;144:25-32.
Pemphigus—www.mayoclinic.com/ health/
pemphigus/ DS00749. effect of intravenous immunoglobulin therapy in patients with
pemphigus vulgaris. Arch Dermatol. 2002;138:1158-1162.
www.pemphigus.org/ .
therapy in autoimmune mucocutaneous blistering diseases: a review
PRO VIDER RESO URCES of the evidence for its ef cacy and safety. Am J Clin Dermatol. 2010;
11:315-326.
Pemphigus Vulgaris—http:// emedicine
.medscape.com/ article/ 1064187. 14. Amagai M, Ikeda S, Shimizu H, et al. A randomized double-blind
trial of intravenous immunoglobulin for pemphigus. JAmAcad
Dermatol. 2009;60:595-603.
Dermatologic and Cosmetic Procedures in Of ce Practice. Philadelphia,
PA: Elsevier; 2012. The text and the accompanying videos childhood pemphigus vulgaris: a long-term follow-up case and
can also be purchased as an electronic application at: review of the literature. Dermatology. 2010;221(1):13-16.
www.usatinemedia.com.
pemphigus vulgaris successfully treated with rituximab. Indian
J Dermatol Venereol Leprol. 2012;78(5):632-634.
REFERENCES
Lancet. 2005;366:61-73. severe juvenile pemphigus vulgaris. Cutis. 2007;80(4):335-340.
2. Ettlin DA. Pemphigus: Dent Clin North Am. 2005;49:107-1ix. -
ner LA. Generalized erythrodermic pemphigus foliaceus in a
review. Am Fam Physician. 2002;65:1861-1870. child and its successful response to rituximab treatment. Pediatr
Dermatol. 2007;24(2):172-176.
GJ. Treating pemphigus vulgaris with prednisone and mycopheno-
late mofetil: a multicenter, randomized, placebo-controlled trial. pemphigus in pediatric patients. Minerva Pediatr. 2011;63(4):
J Invest Dermatol. 2010;130:2041-2048. 279-291.
PART 14
904 CHAPTER 157
DERMATO LO GY
157 O THER BULLO US

DISEASES
Jimmy H. Hara, MD
INTRO DUCTIO N
There are a number of bullous diseases other than pemphigus and bul-
lous pemphigoid that are important to recognize. Epidermolysis bullosa A
belongs to a family of inherited diseases where blister formation can be
caused by even minor skin trauma. PLEVA (pityriasis lichenoides et vari-
oliformis acuta) is a minor cutaneous lymphoid dyscrasia that can appear
suddenly and persist for weeks to months. Dermatitis herpetiformis is a
recurrent eruption that is usually associated with gluten and diet-related
enteropathies. These diseases will be discussed in succession.
EPIDERMO LYSIS BULLO SA

PATIENT STO RY
A 12-year-old girl with the Dowling-Meara type of epidermolysis

bullosa (EB) simplex presents to her pediatrician for a URI. While
examining her respiratory tract, the pediatrician notes the extensive,
severe blistering over many areas of the body including, the (A)
trunk, (B) extremities, and (C) the hands (Figure 157-1). She has
been followed by a dermatologist since early childhood when the EB
simplex was rst diagnosed. It turns out that she only has a viral URI
so no antibiotics are needed and standard treatment with uids and
analgesics is recommended. Her mom states that the girl has an
appointment with her dermatologist next month.
EPIDEMIO LO GY B
by skin fragility and blister formation caused by minor skin trauma.1
severity of this disease may vary widely.
of hands and feet are characteristic (Figure 157-2).
Blistering occurs at different levels for these 3 types of EB:

1. Epidermolysis bullosa simplex (Figure 157-1) blisters within the
epidermis (most super cial). 2,3 C
2. Dystrophic epidermolysis bullosa (dominant and recessive) has FIGURE 157-1 A 12-ye ar-old g irl with the Dowling -Me ara typ e of
vesiculobullous skin separation occurring at the sub-basal lamina e p id e rmolysis b ullosa simp le x. It is the most se ve re form with e xte nsive ,
se ve re b liste ring ove r many are as of the b od y includ ing , the (A) trunk,
Figures 157-2 (B) e xtre mitie s, and (C) the hand s. (Use d with p e rmission from Richard
to 157-4). P, Usatine , MD.)
PART 14
O THER BULLO US DISEASES 905
DERMATO LO GY
FIGURE 157-2 Re ce ssive d ystrop hic e p id e rmolysis b ullosa in an ad o-

le sce nt with a mitte n d e formity and e xion contracture s at the wrists.
(Use d with p e rmission from Kane KS, Lio PA, Stratig os AJ, Johnson RA.
Color Atlas & Synop sis of Pe d iatric De rmatolog y, 2nd e d ition,
Fig ure 5-3b , Ne w York, NY: McGraw-Hill, 2009.)
FIGURE 157-5 Junctional ep idermolysis b ullosa in a newb orn with

se ve re p erioral, oral and GI involvement. This infant was sub se q uently
hosp italized and d e sp ite burn unit supp ortive me asures eve ntually
p assed away b ecause of sep sis. (Used with p e rmission from Kane KS, Lio
P, Stratigos AJ, Johnson RA. Color Atlas and Synop sis of Pe diatric Der-
matolog y, 2nd e d ition, Fig ure 5-2c, New York, NY: McGraw-Hill, 2009.)
3. Junctional epidermolysis bullosa blisters at the dermal-epidermal

junction (Figure 157-5).
DIAGNO SIS
FIGURE 157-3 Re ce ssive d ystrop hic e p id e rmolysis b ullosa with loss of
all he r toe nails starting as a young child . (Use d with p e rmission fro m
Richard P. Usatine , MD.) CLINICAL FEATURES
Acral skin fragility and blistering are the hallmark in childhood.
Minor trauma can induce severe blistering. As the disease progresses
initially, painful and ultimately debilitating dystrophic deformities
are typical. Repeated blistering of the hands can lead to fusion of the
ngers and the “mitten” deformity (Figure 157-2).
The typical distribution is acral (hands and feet), although blistering
may extend proximally secondary to trauma.
LABO RATO RY STUDIES AND BIO PSY

There are no laboratory tests to con rm the diagnosis. A punch
biopsy can provide adequate tissue for the dermatopathologist to
differentiate between the different forms of epidermolysis bullosa:
simplex, junctional, and dystrophic.
FIGURE 157-4 Re ce ssive d ystrop hic e p id e rmolysis b ullosa in a ne w- DIFFERENTIAL DIAGNO SIS
b orn. Bullae occur at are as of minimal trauma at or ne ar b irth. (Use d
with p e rmission from Kane KS, Lio P, Stratig os AJ, Johnson RA. Color
Atlas and Synop sis o f Pe d iatric De rmatolog y, 2nd e d ition, Fig ure 5-3a,
Ne w York, NY: McGraw-Hill, 2009.) the distribution is less apt to be limited to the distal extremities.
PART 14
906 CHAPTER 157
DERMATO LO GY
-
ylococcal scalded skin syndrome (see Chapter 105, Staphylococcal
Scalded Skin Syndrome). 4
MANAGEMENT
Management is primarily prevention of trauma, careful wound care,
such as pain management and nutritional support are often necessary.

Screening the skin for squamous cell carcinoma is important in adult-
hood for the dystrophic form. 2
FO LLO W-UP
Periodic skin examinations should be done to help manage symptoms

and screen for malignancy.
PATIENT EDUCATIO N
Avoid trauma and come in early if there are any signs of infection or
malignancy.
FIGURE 157-6 A colle g e stud e nt with p ityriasis liche noid e s e t varioli-
formis acuta. His skin le sions cle are d with oral d oxycycline . (Use d with
p e rmission from Richard P, Usatine , MD.)
PITYRIASIS LICHENO IDES
ET VARIO LIFO RMIS ACUTA
DIAGNO SIS
PATIENT STO RY
CLINICAL FEATURES
A young man presented with a varicelliform eruption that he has had PLEVA occurs with crops of maculopapular and papulosquamous
for 6 weeks (Figure 157-6). Initially, he was diagnosed with vari- lesions that can vesiculate and form hemorrhagic vesicles (Figures
cella and given a course of acyclovir. Then he was misdiagnosed with 157-6 and 157-7). Although it resembles varicella, new crops of
scabies and treated with permethrin. A correct diagnosis of PLEVA
was made by clinical appearance and con rmed with biopsy. His skin
lesions cleared with oral doxycycline.
EPIDEMIO LO GY
chronica are maculopapular erythematous eruptions that can occur

in crops of vesicles that can become hemorrhagic over a course of
weeks to months (Figures 157-7). 5
disease. However, there is increasing evidence that suggests that FIGURE 157-7 A te e nag e r with p ityriasis liche noid e s e t varioliformis
acuta (PLEVA, Mucha-Hab e rmann d ise ase ). (Use d with p e rmission from
PLEVA should be considered a form of cutaneous lymphoid dyscra- We inb e rg SW, Prose NS, Kristal L. Color Atlas of Pe d iatric De rmatolog y,
sia. 7 It may even represent an indolent form of mycosis fungoides. 4th e d ition, Fig ure 9-35, Ne w York, NY: McGraw-Hill, 2008.)
PART 14
DERMATO LO GY
lesions continue to appear over weeks and months. It can be thought

of as “chickenpox that lasts for weeks to months.”
Lesions typically occur over the anterior trunk and exural aspects of
the proximal extremities. The face is spared.

There are no speci c laboratory tests for PLEVA except biopsy.
BIO PSY
A punch biopsy is helpful in making the diagnosis. It may be necessary
to differentiate PLEVA from lymphomatoid papulosis (see the following
section “Differential Diagnosis”).
FIGURE 157-9 Gianotti-Crosti synd rome , “p ap ular acrod e rmatitis of

DIFFERENTIAL DIAGNO SIS child hood ,” in a 7-month-o ld child . The acral e rup tion starte d just afte r
a viral up p e r re sp iratory infe ction and involve d the fe e t, lowe r le g s, and
b uttocks. (Use d with p e rmission from Richard P. Usatine , MD.)
varicella. If no viral testing was done and what appeared to be varicella

center with vesicles and/ or erosions. Look for the target lesions to
persists, PLEVA should be considered (Chapter 108, Chickenpox).
help differentiate this from PLEVA (see Section 12, Hypersensitivity
Syndromes and Drug Reactions).
can be distinguished from PLEVA by length of time and biopsy
(Figure 157-8). It has a more low-grade clinical course than
with recurrent crops of pruritic papules at different stages of devel-
PLEVA and the lesions appear over a longer course of time.
opment that appear on the trunk and extremities. Although it has
histologic features that suggest lymphoma, lymphomatoid papulosis
lesions are seen. The target lesions have epidermal disruption in the alone is not fatal. It is important to differentiate this from PLEVA
because these patients need to be worked up for coexisting malig-
nancy. These patients tend to be older and a punch biopsy can
make the diagnosis.
may resemble PLEVA but the lesions are usually acral in distribu-
tion (Figure 157-9). 3 The erythematous papules and vesicles are
found on the extremities and sometimes on the face. It is a benign
syndrome associated with many childhood viruses that may last
2 to 8 weeks.
MANAGEMENT
8
Various reports suggest the ef cacy of macrolides and tetracyclines,

probably more for their antiin ammatory properties than for their
antibacterial effects.
FO LLO W-UP
Needed only if the disease does not resolve.
PATIENT EDUCATIO N
FIGURE 157-8 Pityriasis liche noid e s chronica is the chronic form of
p ityriasis liche noid e s e t varioliformis acuta that may p e rsist for months This is usually a temporary disease but if it becomes chronic there are
to ye ars. (Use d with p e rmission from Richard P. Usatine , MD.) treatments that could help such as oral macrolides or doxycycline.
PART 14
908 CHAPTER 157
DERMATO LO GY
FIGURE 157-11 Dermatitis herp etiformis that has persisted even though
he is on a strict gluten-free diet. The buttocks is a commonly involved
area. His g astrointestinal symptoms have resolved on the gluten-free diet
but his erup tion has only d iminished. His skin lesions resolved with oral
dapsone. (Used with p ermission from Richard P. Usatine, MD.)
A along the tips of the dermal papillae. The majority of patients will
also have blunting and attening of jejunal villi, which leads to diar-
FIGURE 157-10 A yo ung man with d e rmatitis he rp e tifo rmis and rhea even to the point of steatorrhea and malabsorption.
g lute n-ind uce d e nte ro p athy. The d aily ve sicle s that fo rm are frag ile
and rap id ly b e co me small e ro sio ns. (Use d with p e rmissio n fro m
DIAGNO SIS
CLINICAL FEATURES
DERMATITIS HERPETIFO RMIS
The clinical eruption is characterized by severe itching, burning,
or stinging in the characteristic extensor distribution. Herpetiform
PATIENT STO RY vesicles and urticarial plaques may be seen. Because of the intense
pruritus, characteristic lesions may be excoriated beyond recognition
A young man with a past history of diarrhea and malabsorption carries (Figures 157-10 to 157-12).
a past diagnosis of gluten-induced enteropathy. Despite a gluten-free
diet he continues to have a pruritic eruption on his shoulders, back, TYPICAL DISTRIBUTIO N
extremities and buttocks (Figures 157-10 and 157-11). While the Classically, the lesions (or excoriations) are seen in the extensor
most likely diagnosis is dermatitis herpetiformis, a punch biopsy was aspects of the extremities, shoulders (Figure 157-10), lower back,
performed to con rm this before starting the patient on oral dapsone. and buttocks (Figures 157-11 and 157-12).

EPIDEMIO LO GY If the patient has gluten-induced enteropathy, antigliadin and antiendo-
mysial antibodies may be present. A blood test for antigliadin antibody
is a sensitive test for gluten-induced enteropathy.
eruption that is usually associated with diet-related enteropathy. 9 It
most commonly occurs in the 20 to 40 years of age group. Men are BIO PSY
affected more often than women. Diagnosis is con rmed by a punch biopsy. It is best to biopsy new
crops of lesions. A standard histologic examination will show eosino-
phils and microabscesses of neutrophils in the dermal papillae and
ETIO LO GY AND PATHO PHYSIO LO GY subepidermal vesicles. Direct immuno uorescence reveals deposits
of IgA and complement within the dermal papillae.
cause the development of circulating immune complexes and their

subsequent deposition in the skin. The term herpetiformis refers to the DIFFERENTIAL DIAGNO SIS
grouped vesicles that appear on extensor aspects of the extremities
and trunk and is not a viral infection or related to the herpes viruses.
The disease is characterized by the deposition of immunoglobulin (Ig) vesicles. If the lesions and distribution suggest scabies, it should be
PART 14
DERMATO LO GY
enteropathy should not eat wheat and barley but can eat rice, oats,
and corn.
PATIENT RESO URCES
http:// ghr.nlm.nih.gov/ condition=epidermolysisbull

osasimplex.
www.niams.nih.gov/
Health_Info/ Epidermolysis_Bullosa/ default.asp.
http:// dermnetnz
.org/ scaly/ pityriasis-lichenoides.html.
www.ncbi.nlm
.nih.gov/ pubmedhealth/ PMH0002451/ .

Epidermolysis Bullosa http:// emedicine
Pityriasis Lichenoides http:// emedicine
Dermatitis Herpetiformis http:// emedicine
FIGURE 157-12 De rmatitis he rp e tiformis showing e rosions from
ve sicle s and b ullae on the b uttocks, le g s and arms in a young g irl with
g lute n-ind uce d e nte rop athy. (Use d with p e rmission from We inb e rg SW,
Prose NS, Kristal L. Color Atlas of Pe d iatric De rmatolog y, 4th e d ition,
Fig ure 14-32, Ne w York, NY: McGraw-Hill, 2008.)
REFERENCES
1. Horn HM, Tidman MJ. The clinical spectrum of epidermolysis
ruled out with skin scraping looking for the mite, feces, and eggs. bullosa. Br J Dermatol
If the scraping is negative, but the clinical appearance suggests 2. Fine JD, Johnson LB, Weiner M, et al. Epidermolysis bullosa
scabies, empiric treatment with permethrin should be considered and the risk of life-threatening cancers: the National EB
as well. If the lesions persist, consider a punch biopsy to look for Registry experience, 1986-2006. J Am Acad Dermatol
dermatitis herpetiformis (Chapter 128, Scabies). (2):203-211.
- 3. Paller AS, Mancini AJ. Bullous diseases in children. In: Paller AS,
erations, but response to steroids in eczema may be helpful in Mancini AJ, eds. Hurwitz’s Clinical Pediatric Dermatology, 3rd ed.
differentiation (Chapter 130, Atopic Dermatitis).
-
MANAGEMENT nosis and management. Am J Clin Dermatol
5. Bowers S, Warshaw EM. Pityriasis lichenoides and its subtypes.
- JAmAcad Dermatol
ment in the skin lesions. The degree of bene t is dependent upon
the strictness of the diet. 9 in childhood: a retrospective review of 124 patients. JAmAcad
Dermatol
subsequent development of small bowel lymphoma. -
10
des: a clonal T-cell lymphoproliferative disorder. Hum Pathol
33(8):788-795.
FO LLO W-UP ultraviolet A1 therapy for pityriasis lichenoides et varioliformis

acuta and pityriasis lichenoides chronica. JAmAcad Dermatol.
Follow-up is needed to control the disease and monitor nutritional status.
9. Patient.co.uk. Dermatitis Herpetiformis. http:// www.patient.co.uk/
PATIENT EDUCATIO N
Nutritional counseling is important for all patients with gluten-induced Diagnosis and Management of Celiac Disease. Gastroenterology.
enteropathy. Persons with dermatitis herpetiformis and gluten-induced,
SECTIO N 14 HAIR AND NAIL CO NDITIO NS
ALO PECIA AREATA

From Usatine R.
Bald sp ots o n a young g irl. J Fam Pract. 2004;53(1):33-36. Re p ro d uce d
with p e rmission from Frontline Me d ical Co mmunications
Use d
with p e rmission from Richard P. Usatine , MD
CLINICAL FEATURES
BIO PSY
I
I
PATIENT RESO URCES
REFERENCES
J Fam Pract
BMC Dermatol
Am Fam Physician
J Eur. Acad Derma-
tolVenereol Int JTrichology
J Am Acad Dermatol Cochrane Database Syst Rev
Semin. Cutan. Med. Surg Arch Dermatol

N Engl J Med
PART 14
TRACTIO N ALO PECIA AND TRICHO TILLO MANIA 915
DERMATO LO GY
159 TRACTIO N ALO PECIA

AND TRICHOTILLOMANIA
PATIENT STO RY
Figure 159-1)
FIGURE 159-2 Traction alop e cia in a young African Ame rican g irl
who se mom b raid s he r hair tig htly. (Use d with p e rmission from Richard
P. Usatine , MD.)
EPIDEMIO LO GY
Figures 159-1 159-2
Figures 159-3 159-6

INTRO DUCTIO N
FIGURE 159-1 Trichotillo mania in his 17-ye ar-o ld honors stud e nt who FIGURE 159-3 Traction alop e cia on the late ral asp e ct of the scalp of a
is curre ntly taking four Ad vance d Place me nt course s simultane ously. young g irl d ue to p ulling the hair tig htly with rub b e r b and s. (Use d with
(Use d with p e rmission from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
PART 14
916 CHAPTER 159
DERMATO LO GY
FIGURE 159-4 Trichotillomania in an 11-ye ar-old b oy. Note the incom-

p le te hair loss and unusual g e ome tric p atte rn. He was re ce iving he lp
and the hair is now g rowing in. (Use d with p e rmission from Richard P. FIGURE 159-5 Trichotillomania in a 12-ye ar-old b lack g irl. The late ral
Usatine , MD.) rig ht scalp was most involve d . (Use d with p e rmission from Richard P.
Usatine , MD.)
1
Figures 159-1 159-2
Figures 159-3 159-6
A B
FIGURE 159-6 A. Tricho tillomania in a 12-ye ar-o ld g irl und e rg oing much stre ss b e cause of con ict in he r family. B. Close -up of trichotil-
lomania showing b roke n hairs, b lack d ots, and e xcoriations. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
TRACTIO N ALO PECIA AND TRICHO TILLO MANIA 917
DERMATO LO GY
MANAGEMENT
NO NPHARMACO LO GIC
DIAGNO SIS 1 SO R
CLINICAL FEATURES
~
Figures 159-1 159-2
SO R
~
SO R
Figure 159-6
MEDICATIO NS
SO R
Figure 159-4 SO R
SO R
1
SO R

SO R
FO LLO W-UP
PATIENT EDUCATIO N
1
PART 14
918 CHAPTER 159
DERMATO LO GY
REFERENCES
Am Fam Physician.
Pediatr Rev.
Biol Psychiatry.
PATIENT RESO URCES
Emphasis on
J Clin Psychiatry.
Growth—www.trichotillomania.co.uk/
Mental Health and Trichotillomania—www.webmd
.com/ anxiety-panic/ guide/ trichotillomania
Am J Psychiatry.
Traction Alopecia: Causes and Treatment Options—
www.traction-alopecia.com/
Trichotillomania—http:// www.nlm.nih.gov/ J Clin Psychiatry.
medlineplus/ ency/ article/ 001517.htm
Trichotillomania—www.nmha.org/
go/ information/ get-info/ trichotillomania J Clin Psychiatry.

Trichotillomania—http:// emedicine.medscape.com/
article/ 1071854-overview Clin
Traction Alopecia—www.emedicine.com/ derm/ topic895 Neuropharmacol.
.htm
PART 14
NO RMAL NAIL VARIANTS 919
DERMATO LO GY
160 NO RMAL NAIL Na il ma trix

P roxima l
VARIANTS
na il fold
Cuticle /e ponychium
Lunula
E.J. Maye aux, Jr., MD Na il be d
La te ra l na il fold
P roce s s us
unguicula ris
Na il pla te
PATIENT STO RY
Hyponychium
Figure 160-1
Dis ta l pha la nx Bone

P ulp
FIGURE 160-2 The anatomy of the nail unit. (Use d with p e rmission
from Usatine R, Pfe nning e r J, Stulb e rg D, Small R. De rmatolog ic and
Cosme tic Pro ce d ure s in O f ce Practice . Else vie r, Inc., Philad e lp hia.
INTRO DUCTIO N 2012.)
Figure 160-2. The nail unit ~ Leukonychia punctata.

~ White nails.
.
~
SYNO NYMS
EPIDEMIO LO GY
.
~
Leukonychia
Figure 160-1
Figure 160-3
3
FIGURE 160-1 Transve rse striate le ukonychia (transve rse white When
stre aks) in a he althy p atie nt. Note that the line s d o not e xte nd all of
the way to the late ral fold s, which ind icate s a p rob ab le b e nig n p roce ss.
PART 14
920 CHAPTER 160
DERMATO LO GY
FIGURE 160-3 Le ukonychia p unctata showing d istinct p unctate white FIGURE 160-5 O nychog ryp hosis (ram’s horn nail) is a typ e of late ral
sp ots and line s on the ng e rnails. (Use d with p e rmission from Richard nail hyp e rtrop hy most fre q ue ntly found in the toe nails and ofte n asso-
P. Usatine , MD.) ciate d with onychomycosis. (Use d with p e rmission from Richard P.
Usatine , MD.)
Figure 160-4
Nail hypertrophy 160-5
Habit-tic deformity Figures 160-6 160-7
FIGURE 1 6 0 -4 Lo ng itud inal me lano nychia in multip le ng e rs.

The se b and s o f transluce nt nail p ig me ntatio n in multip le ng e rs are FIGURE 160-6 Habit-tic deformity of the thumbnail caused by a con-
typ ical o f racial lo ng itud inal me lano nychia and no t susp icio us fo r scious or unconscious rubb ing or p icking of the proximal nails and nail
me lano ma. No te the d ark p ig me nt o n the p ro ximal nail fo ld s re p re - folds. Horizontal g rooves are formed proximally and move distally with
se nts a p se ud o -Hutchinso n sig n. (Use d with p e rmissio n fro m Richard ngernail growth. The thumbnails are most often affected . This was found
P. Usatine , MD.) in a high-school g irl. (Used with permission from Richard P. Usatine, MD.)
PART 14
DERMATO LO GY
FIGURE 160-7 Hab it-tic d e formity of the larg e toe nail in a te e n that FIGURE 160-9 Be au line s in the ng e rnails of a young g irl who was
walks b are foot ofte n. He acknowle d g e d that he p icks at the nail and hosp italize d with p ne umonia 4 months p rior to this visit. (Use d with
cuticle . (Use d with p e rmission from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
Beau lines Figures

160-8 160-9 ~ Race.
~
RISK FACTO RS ~
DIAGNO SIS
~
CLINICAL FEATURES
IMAGING
SO R
BIO PSY
FIGURE 160-8 Be au line s in the ng e rnails of a young b oy that had
e rythe ma multiforme and e xfoliatio n ap p roximate ly 2 months p rior to
this visit. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
922 CHAPTER 160
DERMATO LO GY
SO R
FIGURE 1 6 0 -1 1 Mue hrcke line s in a p atie nt with chro nic hyp o alb u-
mine mia fro m ne p hro tic synd ro me . The white transve rse line s
e xte nd acro ss the full nail b e d and re p re se nt an ab no rmality o f the
nail vascular b e d .
Figure 160-11
Table 160-1 lists the
Figure
160-12
Figure 160-10 Candida
Figure 160-13
MANAGEMENT
NO NPHARMACO LO GIC
FIGURE 1 6 0 -1 0 Me e line s that sp re ad transve rse ly acro ss the MEDICATIO NS

e ntire b re ad th o f the nail and are so me what ro und e d with a
co nto ur simila r to the d ista l lunula . (Use d with p e rm issio n fro m
J e ffre y Me ffe rt, MD.) SO R
PART 14
DERMATO LO GY
TABLE 160-1 Sig ns that He lp Diffe re ntiate Local Trauma-Ind uce d Nail Chang e s from Those Associate d with Syste mic Dise ase
Me e s Line s Mue hrcke Line s Be au line s (Fig ure s Le uko nychia (Fig ure s
Charact e rist ic (Fig ure 160-10) (Fig ure 160-11) 160-8 and 160-9) 160-1 and 160-3)
Numb e r o f Nails Te nd to b e sing le Te nd to occur on Ap p e ar symme tri- Usually on one or two
invo lve d b ut may occur on se ve ral nails at cally in se ve ral or nails
se ve ral nails at once once all nails
Nail co ve rag e Sp re ad transve rse ly Sp re ad across the Sp re ad transve rse ly O fte n d o not sp an the
across the e ntire e ntire b re ad th of across the e ntire e ntire b re ad th of the
b re ad th of the nail the nail b e d or b re ad th of the nail nail p late
p late , ofte n d isap -
p e ar with nail
p late p re ssure
Line shap e Te nd to have contour White transve rse Te nd to have con- More line ar and
similar to the d istal line s that have tour similar to the re se mb le the con-
lunula, with a contour similar to d istal lunula, with tour of the p roximal
round e d d istal e d g e the d istal lunula, a round e d d istal nail fold
with a round e d edge
d istal e d g e
Nail surface Ab se nt Ab se nt Usually d e p re sse d Ab se nt
chang e s
Et io lo g y Frag me nte d nail p late Ab normality of the Sup p re sse d nail Disrup tion of nail p late
structure as a re sult nail vascular b e d g rowth formation
of a comp romise d
nail matrix
Asso ciat e d History of a syste mic Chronic hyp oalb u- History of a p hysio- History of p hysical
co nd it io ns insult corre late d with mine mia (he p atic log ic stre ssor such trauma (ofte n not
the onse t of the line s and re nal d ise ase ) as surg e ry or a id e nti e d )
such as che mothe r- se ve re illne ss
ap y, he art failure ,
and he avy-me tal
p oisoning
FIGURE 160-12 Half-and -half nail (“Lind say nails”) with the p roximal FIGURE 160-13 Twe nty-nail d ystrop hy in a he althy 8-ye ar-old g irl.
p ortion of the nail b e ing white and the d istal p ortion p ink. Note the Note how all the ng e rnails are uniformly affe cte d with long itud inal
sharp line of d e marcation b e twe e n the two halve s. This p atie nt has cir- striations and loss of nail luste r. He r skin is othe rwise normal. (Use d
rhosis. (Use d with p e rmission from Richard P. Usatine , MD.) with p e rmission from Richard P. Usatine , MD.)
PART 14
924 CHAPTER 160
DERMATO LO GY
PATIENT RESO URCES REFERENCES

Melanonychia—www.diseasesatoz.com/
melanonychia.htm. Semin Cutan Med Surg.
PRO VIDER RESO URCES Semin Cutan Med Surg.

Nail Surgery—www.emedicine.com/
derm/ topic818.htm. Int J Dermatol
www.dermatlas.com/ J Am Acad Dermatol.
derm/ nails (all).
Melanonychia—http:// emedicine.medscape.com/
article/ 1375850-overview# showall. Dermatol Clin
Examining the Fingernails—http://
www.medscape.org/ viewarticle/ 571916_2. Am Fam Physician
“Nail Diseases”—http:// dermnetnz.org/ J Fam Pract.
hair-nails-sweat/ nails.html.
Arch Dermatol.
PART 14
PIGMENTED NAIL DISO RDERS 925
DERMATO LO GY
161 PIGMENTED NAIL

DISO RDERS
and con rms his concern for melanoma (Figure 161-1B). The con-
PATIENT STO RY cerns are expressed to the parents and the child is set up for a nail
matrix biopsy with sedation. The differential diagnosis also includes a
A four-year-old boy presents with a newly pigmented line on his right congenital melanocytic nevus that is growing.
thumb for 6 months. He already had one pigmented line on that same
thumb since age one. His parents want to know if this pigmentation is
dangerous. The child is otherwise healthy. On examination there are INTRO DUCTIO N
two longitudinal pigmented lines easily visible on the right thumbnail
(Figure 161-1A). The boy is referred to a pediatric dermatologist. Atypical pigmentation of the nail plate may result from many nonma-
Examination with a dermatoscope shows the details of the many lines lignant causes, such as fungal infections, benign melanocytic hyper-
plasia, nevi and medications. It may also result from development of
subungual melanoma. The challenge for the clinician is separating the
malignant from the nonmalignant sources.
Longitudinal melanonychia (LM) is a clinically descriptive term
that represents a longitudinal pigmented band in the nail plate
(Figures 161-1 to 161-3). It may be caused by any of the conditions
listed above but is often due to normal ethnic hyperpigmentation
(Figure 161-3). It may involve 1 or several digits, vary in color
B
FIGURE 161-1 A. Long itud inal me lanonychia on the rig ht thumb of FIGURE 161-2 Long itud inal me lano nychia—a sing le d ark b and of nail
four-ye ar-old b oy with two p romine nt p ig me nte d line s. O ne of the two p ig me nt ap p e aring in the matrix re g ion and e xte nd e d to the tip of the
line s is ne w. B. De rmoscop ic e xamination of the nail sho ws the com- nail. This is conce rning for me lanoma. The wid e ning of the b and in the
p le x p ig me nt p atte rn with many line s and me lanocytic d ots. This is sus- p roximal nail shows that the me lanocytic le sion in the matrix is g row-
p icious for me lanoma b ut could also b e a cong e nital ne vus that is ing . A b iop sy showe d this to b e a b e nig n ne vus. (Use d with p e rmission
g rowing . (Use d with p e rmission from Richard P. Usatine , MD.) from Richard P. Usatine , MD.)
PART 14
926 CHAPTER 161
DERMATO LO GY
FIGURE 161-3 During a routine sp orts p hysical for a b lack ad ole sce nt FIGURE 161-4 Long itud inal me lano nychia of the toe nail of a young
b oy, a transluce nt d arke r stip e was d iscove re d in the nail p late of one p e rson. Biop sy d e monstrate d b e nig n me lanocytosis. (Use d with
o f his thumb s. The line was faint and unifo rm in wid th. He was re as- p e rmission from Richard P. Usatine , MD.)
sure d it was mo st like ly b e nig n b ut the le sion was no te d in his me d ical
re cord so it could b e re che cke d in the future and he was instructe d to
re turn to clinic if it rap id ly chang e d . (Use d with p e rmission from E.J.
Maye aux, Jr., MD.)
indicates a distal matrix origin. Look at the distal edge of the nail
in a cross-sectional view to see whether the pigment is dorsal or
ventral (a dermatoscope may help).
from light brown to black, vary in width (most range from 2 to
4 mm), and have sharp or blurred borders.
nail unit, such as psoriasis, lichen planus, amyloidosis, and localized

SYNO NYMS scleroderma, rarely may result in LM.
Acrolentiginous melanoma = acral lentiginous melanoma, subungual of the pediatric cases of single-biopsied LM. 4
melanoma is one type of acral lentiginous melanoma involving the
nail unit. black coloration is observed in two thirds of the cases and periungual
pigmentation (benign pseudo-Hutchinson sign) in 1/ 3.
EPIDEMIO LO GY and antimalarial drugs (mepacrine, amodiaquine, and chloroquine).
77 percent of African Americans older than age 20 years and in hyperthyroidism, and acromegaly, can be responsible for LM.
almost 100 percent of those older than age 50 years. 1,2 It also occurs
in 10 to 20 percent of persons of Japanese descent. LM is common patients with LM (Figures 161-5 to 161-7). Separating benign
in Hispanic and other dark-skinned groups. LM is unusual in whites,
occurring in only approximately 1 percent of the population. 1 the thumb or index ngers, and both are more common in dark-
skinned persons. 5 A biopsy should be performed if the cause of LM
in the US. Subungual melanoma is a relatively rare tumor with is suspicious for melanoma. Table 161-1 lists diagnostic clues for
reported incidences between 0.7 percent and 3.5 percent of all subungual melanomas. Many subungual melanomas have a history
melanoma cases in the general population. 3 of trauma preceding the diagnosis so it is important to not be
fooled by this history (Figure 161-7).
-
ETIO LO GY AND PATHO PHYSIO LO GY cent to the nail plate involving the nail folds or the ngertip. It is an
important indicator for nail melanoma (Figures 161-5 to 161-6). 6
-
tion of melanin within the nail plate. This deposition may result proximal nail fold secondary to benign conditions such as racial
from greater melanin synthesis or from an increase in the total melanosis and not melanoma (Figure 161-8). Another cause of
number of melanocytes (Figure 161-4). Pigment clinically local- pseudo-Hutchinson sign is a translucent cuticle below which the
ized within the dorsal half of the nail plate indicates a proximal pigment of LM is visible. Trauma and drug-induced pigmentation
matrix origin, and pigment localized within the ventral nail plate can also produce a pseudo-Hutchinson sign.
PART 14
DERMATO LO GY
FIGURE 161-7 Nod ular me lano ma g rowing within the p inkie nail (not
the thumb ) of a young woman. The p atie nt claims that it starte d with a
d ark sp ot und e r the nail of this fth d ig it afte r she caug ht it in a d re sse r
FIGURE 161-5 Ad vance d acral le ntig inous me lanoma of the thumb d rawe r. Whe n it d id not he al she p ursue d me d ical care and was tre ate d
with d e struction of the nail p late and ulce ration. Note the hyp e rp ig - for a p re sume d nail fung us and the n a p aronychia until she was nally
me ntation of the p roximal nail fold (Hutchinson sig n), which is strong ly se e n b y a p hysician who re co g nize d the g ravity of this situation. A
ind icative of me lanoma. (Use d with p e rmission from Dr. Dub in at b iop sy was p e rforme d imme d iate ly and it showe d a thick nod ular me l-
http ://www.skinatlas.com.) anoma g re ate r than 3 mm in d e p th with a hig h mitotic ind e x and ulce r-
ation. The p atie nt will und e rg o an amp utation of the ng e r at the PIP
joint along with a se ntine l nod e b iop sy. (Use d with p e rmission from
cases, and most of those occur in the thumb (Figures 161-5 to

161-6). 4 On the foot, subungual melanoma usually occurs in the
great toe. 5 The median age at which subungual melanoma is usually RISK FACTO RS
diagnosed is in the sixth and seventh decades. It appears with equal
frequency in males and females. 5 Table 161-1 lists diagnostic clues that indicate an increased risk for
the presence of subungual melanoma.
TABLE 161-1 Diag no stic Clue s that Ind icate Lo ng itud inal
Me lanonychia is Susp icious for Sub ung ual Me lanoma
Hutchinson sig n (me lanoma until p rove n othe rwise )

In a sing le d ig it
Sixth d e cad e of life or late r
De ve lop s ab rup tly in a p re viously normal nail p late
Sud d e nly d arke ns or wid e ns (chang e in the LM
morp holog y)
O ccurs in e ithe r the thumb , ind e x ng e r, or g re at toe
History of d ig ital trauma
Dark-skinne d p atie nt, p articularly if the thumb or g re at
toe is affe cte d
Blurre d , rathe r than sharp , late ral b ord e rs
Pe rsonal history of malig nant me lanoma
Incre ase d risk for me lanoma (e .g ., familial atyp ical mole
and me lanoma [FAMM] synd rome )
FIGURE 161-6 Acral lentiginous melanoma of the thumb with a very pos- Nail d ystrop hy, such as p artial nail d e struction or
itive Hutchinson sign. Note how the pigmented band on the nail is greater d isap p e arance
than 3 mm in width. (Used with permission from Robert T. Gilson, MD.)
PART 14
928 CHAPTER 161
DERMATO LO GY
Americans in whom subungual melanoma accounts for 1/ 3 of mel-

anoma cases.
after adequate treatment.
lateral nailfold (Hutchinson sign).
melanoma.
The digits used for grasping (thumb, index nger, and middle nger)
are the most commonly involved in LM and melanoma, but either
may be found in any nger or toe.
FIGURE 161-8 The ng e rs of this child d e monstrate long itud inal me l-
anonychia with p se ud o-Hutchinson sig n that was found to b e d ue to BIO PSY
racial me lanosis. The small b ruise on the p roximal nail fold of the rig ht
thumb was d ue to re ce nt trauma and not me lanoma. (Use d with p e r-
mission from Richard P. Usatine , MD.) of the nail matrix. Patients with darker skin color and multiple digits
with translucent LM often need only be observed. Single dark lines in
whites should always be biopsied. A 3-mm punch biopsy can be per-
formed at the origin of the darkest part of a dark band within the nail
DIAGNO SIS matrix (Figure 161-9). Histologic diagnosis of atypical melanocytic
hyperplasia necessitates the complete removal of the lesion.
CLINICAL FEATURES

melanoma:
viewed through the nail as a grayish to brown or black spot. 7
A B
FIGURE 161-9 A. The p roximal nail fold is re e cte d b ack to p e rform a nail matrix b iop sy in a young man with ne w onse t of long itud inal me lano-
nychia. The 3-mm p unch is p lace d ove r the orig in of the d ark b and at the d istal matrix. B. The 3-mm p unch now contains the sp e cime n for p athol-
og y. The long itud inal me lanonychia was cause d b y me lanocytic hyp e rp lasia. (Use d with p e rmissio n from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY

out with the nail plate, exhibiting a proximal border that reproduces Nail Diseases—http:// dermnetnz.org/
the shape of the lunula. A hole punched in the nail plate allows for the hair-nails-sweat/ nails.html.
visualization of the underlying nail bed and con rmation of the nature
Nail Surgery—www.emedicine.com/ derm/
topic818.htm.
MANAGEMENT of nail pigmentation. J Am Acad Dermatol. 2007;56:5 835-847.
NO NPHARMACO LO GIC diagnostic algorithm including the matrix shave biopsy. J Am

Acad Dermatol. 2007;56:5 803-810.
REFERRAL O R HO SPITALIZATIO N Dermatologic and Cosmetic Procedures in Of ce

Treatment of primary subungual melanomas includes amputation at Practice. Philadelphia, PA: Elsevier; 2012:216-228. The whole
SO R the procedure depicted in Figure 161-9 is described in detail.
SO R and the
8
possible to remove the full nail apparatus and save the digit. Sentinel REFERENCES
lymph node biopsy is often indicated to establish the disease stage.
striata): diagnosis and management. J Am Acad Dermatol. 1989;21:
1165-1175.
-
PRO GNO SIS ologic features. Semin Cutan Med Surg. 2010;29:148-158.
-
The 5-year survival is approximately 74 percent for patients with
gual melanoma: an eighteen year review. Surgery. 1994;116:
stage I subungual melanoma and 40 percent for patients with stage II
96-100.
disease. Prognostic variables negatively affecting survival include stage
-
and ulceration. 9 nychia in children: a clinical and histopathologic study of 40 cases.
J Am Acad Dermatol. 1999;41:17-22.
FO LLO W-UP J Surg Oncol. 1982;21:219-222.

J Dermatol Surg Oncol. 1986;12:
519-521.
biopsy, or regular monitoring is extremely important. If there is any
doubt about the diagnosis of melanoma, biopsy immediately or refer
of the nail bed: report of two cases. Br J Dermatol. 1999;140:
to someone who can. Have the patient report any changes in pigmen-
730-733.
tation of the nail plate or nail folds, and strongly consider biopsy in
these individuals.
subungual melanoma. Dermatol Surg. 2003;29(4):366-374.
PATIENT RESO URCES
a review of 93 cases with identi cation of prognostic variables.
Nail Diseases In Childhood—www.medscape.com/
Clin Orthop Relat Res. 2000;378:206-212.
viewarticle/ 585158_8.
Subungual Melanoma—http:// dermnetnz.org/
hair-nails-sweat/ melanoma-nailunit.html.
PART 14
930 CHAPTER 162
DERMATO LO GY
162 INGRO WN TO ENAIL ETIO LO GY AND PATHO PHYSIO LO GY

Onychocryptosis occurs when the lateral nail plate damages the lat-
He athe r M. Guillot, MD
eral nail fold. The laterally edge of the nail plate penetrates and per-
forates the adjacent nail fold skin. Perforation of the lateral fold skin
results in painful in ammation that manifests clinically as mild edema,
erythema, and pain. In advanced stages, drainage, infection, and
PATIENT STO RY ulceration may be present. Hypertrophy of the lateral nail wall
occurs, and granulation tissue forms over the nail plate and the nail
fold during healing of the ulcerated skin. 1 It is a common af iction
presents to the clinic with another episode (Figure 162-1). He was that can result from a variety of conditions that cause improper t of
- the nail plate in the lateral nail grove (Figure 162-1).
-
duced long-term remission of his condition.
RISK FACTO RS1
INTRO DUCTIO N
Onychocryptosis (ingrown toenails) is a common childhood and adult

problem. Patients often seek treatment because of the signi cant lev- Figure 162-2).
els of discomfort and disability associated with the condition.
SYNO NYMS
Onychocryptosis, unguis incarnatus.
EPIDEMIO LO GY in the nail plate.
do not seek medical care and it is not a reportable disease. The DIAGNO SIS
toenails, especially the great toenail, are most commonly affected.
Ingrown toenails at birth and in early childhood do occur, but are CLINICAL FEATURES—HISTO RY AND PHYSICAL
very rare.
Figure 162-1).
FIGURE 162-1 Re curre nt ing rown toe nail in a 13-ye ar-old b oy. Note FIGURE 16 2-2 The curve d infold ing o f the late ral e d g e s of the nail
the local re d ne ss and swe lling . (Use d with p e rmission from Richard P. p late ind icate s this p atie nt has a p ince r nail, which p re d isp ose s to
Usatine , MD.) onychocryp tosis. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
INGRO WN TO ENAIL 931
DERMATO LO GY
not necessary.
toe and fever. FIGURE 162-3 Status p ost p artial nail avulsion p roce d ure for an
ing rown toe nail. (Use d with p e rmission from Richard P. Usatine , MD.)
SURGICAL
MANAGEMENT
severe lesions (substantial erythema, granulation tissue and pus)
need surgical therapy. 8,9 SOR
patient and the severity of the lesion.
an ingrowing toenail when compared to non-surgical interventions.
NO NPHARMACO LO GIC
- Usually it is only necessary to remove the part of the nail that is
charge can be treated conservatively with soaking the affected foot placing pressure on the lateral nail fold (Figure 162-3). SOR
lateral nailfold away from the nail plate. SOR
achieved with the combination of partial nail plate avulsion plus

lateral nail plate and trimming the lateral part of the nail plate
below the area of nail fold irritation. (Figure 162-4). SOR
been described, including splints and commercially available

devices. Devices that have shown promise include shape memory
MEDICATIO NS
antibiotics, studies show the use of antibiotics does not decrease

healing time or postprocedure morbidity in otherwise normal
patients. SOR
applied after soaking to decrease in ammation, but is often

unnecessary.
mild to moderate pain may be necessary.

-
FIGURE 162-4 Phenol matrixectomy to destroy a portion of the nail
dence indicates the use of lidocaine with epinephrine is equally safe matrix to prevent a recurrent ingrown toenail. Note the phenol is applied
and ef cacious for anesthesia. 7 with a twisting motion. (Used with permission from Richard P. Usatine, MD.)
PART 14
932 CHAPTER 162
DERMATO LO GY
the toes or pinch the toes.
the toes.
FO LLO W-UP
PATIENT EDUCATIO N
FIGURE 162-5 Use of e le ctrosurg e ry to ab late the late ral nail matrix.
This re sults in a narrowe r nail and a d e cre ase d like lihood of onychocryp -
tosis re curre nce . (Use d with p e rmission from Richard P. Usatine , MD.)
should be allowed to grow well beyond the lateral nail fold before
ingrowing toenails nail avulsion with the use of phenol is more

effective at preventing symptomatic recurrence than nail avulsion
without the use of phenol. 11 Unfortunately the use of phenol does
PATIENT RESO URCES
with simple nail avulsion. SOR
http:// familydoctor.org/ online/ famdocen/ home/

- common/ skin/ disorders/ 208.html.
www.
for the treatment of ingrown toenails, the overall success rates mch.com/ page/ EN/ 4317/ Skin-And-Rashes/
SOR
Ingrown-toenail.aspx.

biotics applied to the surgical site did not reduce signs of infection
http://
or recurrence. The use of phenol did not produce more signs of
emedicine.medscape.com/ article/ 909807-
SOR
overview# showall.
with a high-frequency electrosurgical unit (Figure 162-5). SO R

REFERENCES
-
J Dermatol Surg
offending nail fold, leaving a soft tissue defect that heals by secondary Oncol
Arch
- Dis Child
J Eur Acad Dermatol Venereol.

found that no postoperative intervention including postoperative
antibiotics, manuka honey, povidone-iodine with paraf n, hydrogel
splint and sculptured nail. Int J Dermatol
postoperative infection or pain or reducing healing time.
an ingrowing toenail with a shape-memory alloy device. J Derma-
PREVENTIO N tolog Treat
There are several things that the patient may do to decrease the likeli- necessary in the treatment of locally infected ingrown toenails?
hood of getting an ingrown toenail. Arch Fam Med
PART 14
INGRO WN TO ENAIL 933
DERMATO LO GY
with and without epinephrine during chemical matricectomy J Pediatr Surg

with phenol. Dermatol Surg
treatment of ingrowing toenails. J Bone Joint Surg Br management of ingrown toenails in paediatric age group. The
Foot
Dermatol Surg ingrowing toenails. Dermatol Surg
for ingrowing toenail. Br J Surg
treatment of ingrown toenail in children. J Pediatr
toe-nails. Cochrane Database Syst Rev

PART 14
934 CHAPTER 163
DERMATO LO GY
163 O NYCHO MYCO SIS

PATIENT STO RY
Figure 163-1
INTRO DUCTIO N
FIGURE 163-2 O nychomycosis in the toe nails of a 8-ye ar-old b oy
p rove n b y the visualization of hyp hae und e r the microscop e with a
KO H p re p aration fro m a nail scrap ing . (Use d with p e rmission from
SYNO NYMS
Figures 163-1
EPIDEMIO LO GY 163-3 Figures 163-4 163-5
Candida
Figure 163-6
FIGURE 163-1 O nychomycosis in a child . Note the d iscoloration in

the nail p late of the g re at toe s, and the onycholysis and hyp e rke ratotic
d e b ris und e r the nail p late visib le in the othe r toe s. The d iag nosis was FIGURE 163-3 Onychomycosis in a 14-year-old Hispanic male. Note the
con rme d with a p ositive nail culture . (Use d with p e rmission from coexisting tinea pedis between his toes. (Used with permission from
Richard P. Usatine , MD.) Richard P. Usatine, MD.)
PART 14
O NYCHO MYCO SIS 935
DERMATO LO GY
FIGURE 163-4 Fing e rnail onychomycosis d e monstrating onycholysis

and d e g e ne ration of the nail p lane . (Use d with p e rmission from Richard
P. Usatine , MD.) FIGURE 163-6 Mucocutane ous cand id iasis in a child , which ofte n
associate d with se ve re zinc or iron d e cie ncy. (Use d with p e rmission
from Weinb erg S, Prose NS, Kristal. Color Atlas of Pediatric Dermatology,
4th e d ition, Ne w York: McGraw-Hill, 2008, Fig ure 6-47.)
Trichophyton rubrum
Trichophyton
mentagrophytes T. rubrum
Candida albicans Figure 163-6

DIAGNO SIS
RISK FACTO RS
CLINICAL FEATURES
Figures 63-1 163-3
Figure 163-1
FIGURE 163-5 O nychomycosis in the ng e r nail p rove n b y the visual-
ization of hyp hae und e r the microscop e with a KO H p re p aration from 163-3
a nail scrap ing . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
936 CHAPTER 163
DERMATO LO GY
FIGURE 163-7 Pse ud omonas of the nail showing a b lue -g re e n d iscol-

oration. (Use d with p e rmission from Richard P. Usatine , MD.)
Figure 163-7
MANAGEMENT
~
SO R
SO R
PART 14
DERMATO LO GY
TABLE 163-1 Common Tre atme nts for O nychomycosis
Drug Pe d iat ric Do se Ad ult Do se Co urse To e nail Cure Rat e

Grise ofulvin Microsize 15 to 20 mg / 500 mg p o q d 4 to 9 months (f), 60 ± 6 p e rce nt
(Grifulvin V) kg p e r d ay 6 to 12 months (t)
Te rb ina ne (Lamisil) 10 to 20 kg : 62.5 mg / 250 mg p o q d 6 we e ks (f), 76 ± 3 p e rce nt
d ay 12 we e ks (t)
20 to 40 kg : 125 mg /
d ay
Te rb ina ne (Lamisil) — 250 mg b id 1 wk/mo 2 months (f), NR
p ulse * 3 months (t)
Itraconazole — 200 mg d aily 6 we e ks (f), 59 ± 5 p e rce nt
(Sp oranox) 12 we e ks (t)
Itraconazole < 20 kg : 5 mg /kg p e r 200 mg b id or 2 months (f), 63 ± 7 p e rce nt
(Sp oranox) p ulse d ay for 1 wk/mo 5 mg /kg p e r d ay 3 months (t)
20 to 40 kg : 100 mg cap sule s for
d aily for 1 wk/mo 1 wk/mo
Fluconazole 3 to 6 mg /kg once a 150 mg once a wk 12 to 16 we e ks (f), 48 ± 5 p e rce nt
(Di ucan) wk 18 to 26 we e ks (t)
Ciclop irox 8 p e rce nt — Ap p ly d aily to nail Up to 48 we e ks Ap p roximate ly
nail lacq ue r and surround ing 7 p e rce nt
(Pe nlac) 5-mm skin
NR, Not re cord e d .

*Not ind icate d for tre ating onychomycosis b y the FDA.
From: Harre ll TK, Ne comb WW, Re p log le WH, e t al. O nychomycosis: imp rove d cure rate s with itraconazole and te rb ina ne . J Am
Board Fam Pract. 2000;13(4):268-273; Be ll-Sye r S, Porthouse J, Big b y M. O ral tre atme nts for toe nail onychomycosis. Cochrane
Datab ase Syst Re v. 2004;(2):CD004766. DO I: 10.1002/14651858. CD004766; Crawford F, Hart R, Be ll-Sye r S, e t al. Top ical tre atme nts
for fung al infe ctions of the skin and nails of the foot. Cochrane Datab ase Syst Re v. 1999;(3):CD001434. DO I: 10.1002/14651858.
CD001434; Havu V, He ikkila H, Kuokkane n K, e t al. A d oub le -b lind , rand omize d stud y to comp are the e f cacy and safe ty of
te rb ina ne (Lamisil) with uconazole (Di ucan) in the tre atme nt of onychomycosis. Br J De rmatol. 2000;142(1):97-102.
MEDICATIO NS
SO R
Table 163-1
SO R
SO R
SO R
SO R
SO R
PART 14
938 CHAPTER 163
DERMATO LO GY
CO MPLEMENTARY/ ALTERNATIVE THERAPY PRO VIDER RESO URCES

Onychomycosis http:// emedicine.medscape
.com/ article/ 1105828-overview.
Treating
Onychomycosis http:// www.aafp.org/ afp/ 20010215/ 663
.html.
3
Clin Microbiol Rev http://
www.ncbi.nlm.nih.gov/ pmc/ articles/ PMC88888/
Fungal Nail Infections http:// dermnetnz

PREVENTIO N .org/ fungal/ onychomycosis.html.
Br J Dermatol http://
www.bad.org.uk/ for-the-public/ patient-information-
lea ets/ fungal-infections-of-the-nails?q=Fungal
infections of the nails
PRO GNO SIS
REFERENCES
J Am Acad Dermatol.
FO LLO W-UP
J Am Acad Dermatol
Mycopathologia
Mycoses
PATIENT EDUCATIO N J Eur Acad Dermatol Venereol.
J Am Board
Fam Pract
Arch Intern Med.

PATIENT RESO URCES
J Am
Onychomycosis http:// www
Acad Dermatol
.emedicinehealth.com/ onychomycosis/ article_
em.htm
Fungal Infections of Fingernails and
J Dermatol Sci
Toenails http:// familydoctor.org/ online/ famdocen/
home/ common/ infections/ common/ fungal/
663.html J Am
Podiatr Med Assoc.
Fungal Nails (Onychomycosis, Tinea Unguium)
http:// www.medicinenet.com/ fungal_nails/
article.htm Cochrane Database Syst Rev.
PART 14
DERMATO LO GY
Cochrane Data-
base Syst Rev J Eur Acad Dermatol Venereol.
J Am Board Fam Med.

Br J Dermatol
Diabet Med.
J Am Podiatr
Med Assoc
PART 14
940 CHAPTER 164
DERMATO LO GY
164 PARO NYCHIA

Brian Elkins, MD
PATIENT STO RY
Figure 164-1).
INTRO DUCTIO N FIGURE 164-2 Incision and d rainag e o f the acute p aronychia with a
#11 scalp e l. Note the e xub e rant p us d raining from the incision. (Use d
- S. aureus
Figure 164-2 Streptococcus pyogenes Pseudomonas pyocyanea Proteus vulgaris. 3
-
-
EPIDEMIO LO GY Figures 164-3
164-4).
FIGURE 164-1 Chronic p aronychia in a te e nag e g irl p rob ab ly d ue to FIGURE 164-3 Chronic p aronychia. Note horizontal rid g e s o n one
chronically p ushing b ack he r cuticle s for cosme tic re asons. Note the sid e of the nail p late as a re sult of chronic in ammation. (Use d with
re d ne ss in the ng e r nail fold s. (Use d with p e rmission from Richard P. p e rmission from Richard P. Usatine , MD.)
Usatine , MD.)
PART 14
PARO NYCHIA 941
DERMATO LO GY
FIGURE 164-6 Acute p aronychia of the g re at toe . Note e xte nsive

manicure o f the nails, which may p re d isp ose to p aronychia if the cuticle
or nail fold s are d isrup te d . (Use d with p e rmission from Je nnife r P.
Pie rce , MD.)
FIGURE 164-4 Chronic Cand id a p aronychia causing a d ysmorp hic n- 7

-
g e rnail with horizontal rid g ing . (Use d with p e rmission from Richard P.
Usatine , MD.)
8,9
RISK FACTO RS
Figure 164-5 DIAGNO SIS

Figure 164-6
2
Figure 164-7
CLINICAL FEATURES
Figures 164-1, 164-2, 161-5, 161-6
FIGURE 164-7 Paronychia with ce llulitis of the skin of the ng e rtip

FIGURE 164-5 Acute p aronychia from nail b iting . Note ab sce ss for- and g ranulation tissue formation. This all starte d whe n the p atie nt
mation in the late ral nail fold that is e xte nd ing into the p roximal fold . b e g an manip ulating a hang nail. (Use d with p e rmission from Richard P.
(Use d with p e rmission from E.J. Maye aux, Jr., MD.) Usatine , MD.)
PART 14
942 CHAPTER 164
DERMATO LO GY
MANAGEMENT
NO NPHARMACO LO GIC
2 SO R
11
SO R
Figure 164-2
12
-
-
SO R
MEDICATIO NS
FIGURE 164-8 Dig ital mucus cyst p re se nting as a p ainle ss swe lling of
the nail fold in a young woman. Note the ind e nte d are a of the nail
cause d b y the p re ssure of the mucus cyst on the nail matrix. (Use d with -
13
-
Figure 164-7 -
13
-
Figures
164-3 164-4). 10 S. aureus

-
-
14
Figure 164-8
2,7
-
SO R 2
SURGICAL
- Figure 164-2
PREVENTIO N
PART 14
PARO NYCHIA 943
DERMATO LO GY
REFERENCES
Am Fam Physician
Int J Dermatol
J Hand Surg Am
Am Fam Physician
Curr Probl Pediatr Adolesc Health Care

Curr Probl
Pediatr Adolesc Health Care
PRO GNO SIS
Br J Dermatol
-
15
Chem Immunol Allergy

J Oncol
Pharm Pract
FO LLO W-UP
Hand Clin
Hand Clin
PATIENT EDUCATIO N Am Fam Physician
Ann
Emerg Med
PATIENT RESO URCES The Essential
http:// familydoctor.org/ Guide to Primary Care Procedures
familydoctor/ en/ diseases-conditions/ paronychia.
html.
http:// Emerg Med
dermnetnz.org/ fungal/ paronychia.html.

Am Fam Physician.
http:// www.aafp.org/ afp/ 2008/
0201/ p339.html.
http:// www.emedicine.com/
emerg/ topic357.htm.
PART 14
944 CHAPTER 165
DERMATO LO GY
165 PSO RIATIC NAILS clinician to the correct diagnosis and more effective treatment of the
psoriasis.
Joshua Rai Clark, MD
INTRO DUCTIO N
Psoriasis is a hereditary disorder of skin with numerous clinical

expressions. It affects millions of people throughout the world. 1 Nail
PATIENT STO RY
involvement is common and can have a signi cant cosmetic impact.
EPIDEMIO LO GY
-
orrhages, pitting, longitudinal ridging and onycholysis in the nger-
nails with splinter hemorrhages and nail thickening of the toenails
lifetime. 1 In most cases, nail involvement coexists with cutaneous
(Figure 165-1). With this new information in mind, the physician
psoriasis, although the skin surrounding the affected nails need not
notes other skin ndings that are more suggestive of psoriasis than
be involved. Psoriatic nail disease without overt cutaneous disease
are thought to have a higher incidence of associated arthritis. 2
pitting (Figures 165-1 and 165-2).
nail matrix alters normal keratinization.

forms the super cial portion of the nail plate, so that involvement
in this part of the matrix results in pitting of the nail plate (Figures
165-1 and 165-2
depressions to large punched-out lesions. People without psoriasis
can have nail pitting.
A or splitting (Figure 165-3). When transverse matrix involvement

occurs, solitary or multiple “growth arrest” lines (Beau lines)
B
FIGURE 165-1 Nail p soriasis in a 3-ye ar-old g irl that he lp e d to cor-
re ctly d iag no se he r skin rash as p soriasis and not atop ic d e rmatitis. A.
Note the nail p itting , onycholysis, oil d rop sig n, long itud inal rid g ing
and sp linte r he morrhag e s in the ng e rnails. B. Note the sp linte r he m-
orrhag e s and nail thicke ning in the toe nails. (Use d with p e rmission FIGURE 165-2 Nail p itting in a young b oy with p soriasis. (Use d with
from Richard P. Usatine , MD.) p e rmission from Richard P. Usatine , MD.)
PART 14
PSO RIATIC NAILS 945
DERMATO LO GY
FIGURE 165-5 Nail p soriasis with the oil d rop sig n p roximal to the
FIGURE 165-3 Nail p soriasis d e monstrating onycholysis, p its, and lig hte r onycholysis at the d istal nail. (Use d with p e rmission from Richard
transve rse and long itud inal rid g ing . (Use d with p e rmission from P. Usatine , MD.)
involvement of the intermediate portion of the nail matrix leads to

leukonychia and diminished nail plate integrity.
causes discoloration of the nail bed, producing the “salmon spot” or

“oil drop” signs (Figure 165-4). DIAGNO SIS
CLINICAL FEATURES
onycholysis, which may allow for bacteria and fungi infection
(Figure 165-5). 4
characteristic nail ndings coexist with cutaneous psoriasis. Nail
pitting and onycholysis are the most common ndings (Figures
RISK FACTO RS 165-1 to 165-5).
clinical examination alone. Psoriasis at the hyponychium produces

subungual hyperkeratosis and distal onycholysis (Figures 165-4
and 165-5 -
bial colonization by Candida or Pseudomonas organisms may occur
(Figure 165-6).
appears like a drop of oil on a piece of paper (oil drop sign; see
Figures 165-4, and 165-5
salmon patch sign.
integrity and transverse (horizontal) ridging (Figure 165-3).
nails is associated with splinter hemorrhages of the nail bed caused
between the longitudinal troughs of the nail bed and the overlying
nail plate grows out distally along with the plate (Figures 165-1
and 165-7 -
ogous to the cutaneous Auspitz sign.
FIGURE 165-4 Nail p soriasis with onycholysis and oil d rop sig n in LABO RATO RY TESTING
a te e nag e fe male . Note that e nd of the nail p late s are no long e r
attache d to the nail b e d and the re is a lig ht b rown d iscoloration whe re
the nail lose s its attachme nt. (Use d with p e rmission from Richard P.
Usatine , MD.)
PART 14
946 CHAPTER 165
DERMATO LO GY
rule, pitting in psoriasis is more irregular and broader based; pit-

ting in alopecia areata is more regular, shallow, and geometric and
and verruca vulgaris may appear as an isolated subungual or periun-
A biopsy can establish a de nitive diagnosis.
MANAGEMENT
NO NPHARMACO LO GIC
FIGURE 165-6 Patie nt with nail p soriasis d e monstrating the o il d rop

sig n (se co nd d ig it), nail p itting (se cond and third d ig it), onycholysis
onycholysis and to avoid the accumulation of exogenous material
(se cond , fourth and fth d ig it), and se co nd ary p se ud omonas infe ction under the nail. SO R
( fth d ig it). (Use d with p e rmission from E.J. Maye aux, Jr., MD.)
changes. 6 SO R
6 SO R
stain) if the rst test results are not consistent with the clinical
picture. Psoriasis and onychomycosis can occur concomitantly.
MEDICATIO NS
BIO PSY -
sis is generally lacking. It should be considered in those with signi -
suspected. cant cutaneous involvement in addition to nail disease.
-
matrix, or proximal fold following digital block, and then at
SO R
appear identical to psoriasis and may coexist with it (see Chapter and thickening respond better than pitting and onycholysis, with
bene t sustained for at least 9 months. Pain, periungual hypopig-
mentation, subungual hemorrhage and atrophy have been
reported.
-
cholysis, and “oil drop” changes may also need the lateral nail folds
prevented by the nail plate and extreme pain sensitivity of the

hyponychial region. Atrophy and subungual hematoma formation
are potential complications.
under occlusion) in those treated for 24 weeks. SO R
nail psoriasis is poorly de ned.
and early intervention is most likely to prevent chronic nail-associ-

ated scarring.
FIGURE 165-7 Promine nt sp linte r he morrhag e s and o nycho lysis in the

nail of a p e rson with p soriasis. (Use d with p e rmission from Richard P.
Usatine , MD.)
PART 14
PSO RIATIC NAILS 947
DERMATO LO GY
that the psoriatic nail should be treated early as its presence may scraping under the nails as this may break the skin where the nail is
correlate with an increased chance of developing psoriatic arthritis. attached and lead to an infection.
up. SO R
PATIENT RESO URCES
Hands, Feet and Nails—
www.psoriasis.org/ page.aspx?pid= 445.
PREVENTIO N 9
Nail Psoriasis—www.emedicinehealth
.com/ nail_psoriasis/ article_em.htm.
materials may minimize trauma to the skin and nail unit.
resulting trauma. Nail Psoriasis: Overview of Nail Psoriasis—http://
emedicine.medscape.com/ article/ 1107949.
helpful. Nail Psoriasis—http:// dermnetnz.org/
scaly/ nail-psoriasis.html.
when trimming the cuticle and clearing subungual debris.

REFERENCES
PRO GNO SIS nail. Anatomy, pathology, clinical presentation, and a review of
the literature on thereapy. J Am Acad Dermatol.
does not occur. An exception to this may develop in severe cases of adults. Am Fam Physician.
generalized pustular psoriasis.
best practice recommendations. Drugs.
FO LLO W-UP
literature on therapy. J Am Acad Dermatol
psoriasis.
J Am Acad Dermatol
PATIENT EDUCATIO N Semin Cutan
Med Surg
nails can be used in some patients to conceal psoriatic pitting and injection for psoriatic nail dystrophy. Br J Dermatol
onycholysis. When subungual hyperkeratosis becomes uncomfort-
able because of pressure exerted by footwear, the nail can be pared
down to relieve the pressure.
J European Academy of Dermatology and Venereology
attachment with the nail bed to minimize further nail-bed and nail- J Cosmet Dermatol
plate disassociation. Wearing gloves while working may minimize
PART 14
948 CHAPTER 166
DERMATO LO GY
166 SUBUNGUAL HEMATOMA

PATIENT STO RY
A 14-year-old boy presented to the of ce 1 week after slamming his

nger in a car door. He was seen at an urgent care clinic after the
acute event and told to follow-up in 1 week. A healing subungual
hematoma was evident (Figure 166-1). He has full range-of-motion
and no pain. Since there is no pain, there is no indication for nail per-
foration and drainage.
FIGURE 166-1 Sub ung ual he matoma he aling in a 14-ye ar-old b oy one
INTRO DUCTIO N we e k afte r slamming his ng e r in a car d oo r. (Use d with p e rmission
from E.J. Maye aux, Jr., MD.)
Subungual hematoma (blood under the ngernail or toenail) is a com-

mon injury. It is typically caused by a blow to the distal phalanx (e.g.,
smashing with a tool, crush in a door jamb, stubbing one’s toe). The DIAGNO SIS
blow causes bleeding of the nail matrix or bed with resultant subun-
gual hematoma formation. Patients usually present because of throb- CLINICAL FEATURES
bing pain associated with blue-black discoloration under the nail plate.
Subungual hematomas may be simple (i.e., the nail and nail fold are under the nail as the hematoma progresses. Pain is relieved immedi-
intact) or accompanied by signi cant injuries to the nail fold and digit. 1 ately in most patients with simple nail trephination (Figure 166-3).
The patient may not be aware of the precipitating trauma, because it
may have been minor and/ or chronic (e.g., rubbing in a tight shoe). IMAGING
distal phalanx or distal interphalangeal (DIP) fracture, obtain a

EPIDEMIO LO GY radiograph. SO R
Subungual hematoma is a common childhood injury.
which results in subungual hematoma formation. Pain is pro-

duced by the pressure in the contained space under the nail
plate pressing against nerve receptors, although soft tissue or
bony injury may also contribute to the pain when present
(Figures 166-1 to 166-5).
exhibiting a proximal border that reproduces the shape of the

lunula. Occasionally, a hematoma does not migrate because of
repeated daily trauma. An extended, nonmigrating “hematoma”
should be considered suspicious. Nail plate punch biopsy can be
performed if melanoma is a worry. If the dark area was only a
hematoma the dark color lifts off with nail plate.
FIGURE 1 6 6 -2 A sub ung ual he mato ma o ccurre d whe n an iro n fe ll
nail deformity (usually splitting as in Figure 166-6), and infection. o n the to e o f this yo ung wo man. A p ap e rclip was he ld in a he mo stat
and he ate d with a to rch to p ie rce the p atie nt’s nail p late in o rd e r to
Complications are more likely to occur when presentation is re lie ve the sub ung ual he mato ma. (Use d with p e rmission fro m Richard
delayed or there is an underlying fracture. 2 P. Usatine , MD.)
PART 14
SUBUNGUAL HEMATOMA 949
DERMATO LO GY
FIGURE 166-3 The hot p ap e r clip forme d a nice hole in the nail p late
and the b lood d raine d out sp ontane ously. This re lie ve d the p re ssure FIGURE 166-5 This p ersistent discoloration of the nail in this adolescent
and g ave the p atie nt imme d iate p ain re lie f. (Use d with p e rmission from was correctly diagnosed as a subungual hematoma by history and physical
Richard P. Usatine , MD.) exam so a nail plate b iop sy was not needed. (Used with permission from
NO NPHARMACO LO GIC
dark spot in the nail bed or matrix.
removes the extravasated blood and relieves the pressure and result-
that start in the matrix and extend the length of the nail (see Chapter ing pain. Beyond 48 hours, most subungual hematomas have clotted
161, Pigmented Nail Disorders). and pain has decreased, so trephination is ineffective. SOR
SURGERY
band in the matrix and extend the length of the nail. It may be associ-
ated with pigment deposition in the proximal nail fold (Hutchinson
sign; see Chapter 161, Pigmented Nail Disorders). endings in the nail plate that is perforated. The nail is perforated with
a steel paper clip (Figures 166-2 to 166-4) or an electrocautery
device. This allows the collected blood to drain out (Figures 166-3
and are seen in psoriasis more commonly than endocarditis (see
and 166-4). The hole must be large enough for continued drainage,
Chapter 165, Psoriatic Nails).
which can continue for 24 to 36 hours. The puncture site should be
or frequently recurrent subungual hematomas in children. 3
FIGURE 166-6 Sp lit-nail d eformity in a 6-year-old g irl 1 year afte r her

FIGURE 166-4 Afte r the nail p late is p ie rce d , the b lood d rains e asily ng er was closed in a car door and sutured in the e me rg ency de part-
with a little p re ssure on the p roximal nail fold . (Use d with p e rmission ment. The matrix d id not come tog e ther well and the nail will remain
from Richard P. Usatine , MD.) sp lit (onychoschizia). (Used with pe rmission from Richard P. Usatine, MD.)
PART 14
950 CHAPTER 166
DERMATO LO GY
kept covered with sterile gauze dressing while the wound drains, and
the gauze should be changed daily. Extreme caution should be used out with the nail.
with open ame in a medical (and especially pediatric) setting.
PATIENT RESO URCES
like a mechanical spade bit to produce a hole to drain the hematoma. 4 Subungual Hematoma www
This method causes compression of the nail against the hematoma and .emedicinehealth.com/ subungual_hematoma_
nail bed during the procedure and may temporarily increase pain. bleeding_under_nail/ article_em.htm.
Subungual Hematoma www.healthcentral
distal nail subungual hematomas. 5 .com/ symptoms/ guide-154582–75.html.
- Subungual Hematoma www.webmd.com/
tiple holes in the nail over the hematoma. It monitors electrical skin-problems-and-treatments/ bleeding-under-nail.
resistance to determine depth of mechanical boring, thus avoiding
inadvertent puncture of the nail bed. 6 PRO VIDER RESO URCES
MEDICATIO NS Fingertip Injuries http://

www.aafp.org/ afp/ 20010515/ 1961.html.
-
comes in patients with subungual hematomas and intact nail folds. 7 Nail Trauma www.intelihealth.com/
SOR If a prophylactic antibiotic is used, a rst generation cepha- IH/ ihtIH/ WSIHW000/ 9339/ 25971.html.
losporin (e.g., cephalexin 25–50 mg/ kg/ day divided every 6 to
8 hours for 10 days) would be the drug of choice.
REFERENCES
1. Roser SE, Gellman H. Comparison of nail bed repair versus nail
every 6 to 8 hours may be used with more painful digits. SOR
trephination for subungual hematomas in children. J Hand Surg
Am
REFERRAL
enough? JAccid Emerg Med

of nail trephination when the hematoma involves more than 25 to 50
percent of the nail because of the increased likelihood of signi cant
nail bed injury and fracture of the distal phalanx.10,11 SOR
diagnosis of child abuse. Arch Pediatr Adolesc Med
103-105.
block allows for nail bed repair. 12 SOR
4. Bonisteel PS. Practice tips. Trephining subungual hematomas.
PRO GNO SIS 5. KayaTI, Tursen U, Baz K, Ikizoglu G. Extra- ne insulin syringe
The potential complications of a subungual hematoma include onycholysis hematoma. Dermatol Surg
(separation of the nail plate from the nail bed), nail deformity, nail loss, and
infection. Complications are more likely to occur when care is delayed. 6. Salter SA, Ciocon DH, Gowrishankar TR, Kimball AB. Controlled
A retrospective analysis of 123 patients treated with simple trephi- nail trephination for subungual hematoma. Am J Emerg Med. 2006;
nation found that 85 percent of patients reported an excellent or very
good outcome, 2 percent reported a poor outcome (nail splitting), and
no correlation was found between outcome and size of the hematoma Am J Emerg
or the presence of fracture or infection. 2 Med
FO LLO W-UP
open fractures of the distal phalanx. J Pediatr Orthop 2001;
After drainage, instruct the patient to soak the affected digit in warm
water several times per day for 2 days, and to keep the area dressed
between soaks. Have the patient return if there are any signs of reac- the nail. A case report. J Am Podiatr Med Assoc
cumulation of blood or infection.
causes, treatment, and prognosis. J Hand Surg Am
252.
PATIENT EDUCATIO N
Surg Clin
North Am
should be discussed with the patient and/ or the patient’s parents or Emerg Med
guardian. Clin North Am
PART 14
VITILIGO AND HYPO PIGMENTATIO N 951
DERMATO LO GY
SECTION 15 PIGMENTARY CONDITIO NS

and the use of narrow band UVB was discussed if the steroid does
167 VITILIGO AND not prove helpful. Realistic expectations of the treatments were pro-
HYPO PIGMENTATIO N vided to the mother and her son.
Kare n A. Hug he s, MD INTRO DUCTIO N
Vitiligo is an acquired, progressive loss of pigmentation of the epider-
mis. The Vitiligo European Task Force de nes nonsegmental vitiligo
as “an acquired chronic pigmentation disorder characterized by white
PATIENT STO RY patches, often symmetrical, which usually increase in size with time,
corresponding to a substantial loss of functioning epidermal and
An 8-year-old Hispanic boy is brought in to the clinic by his mother, sometimes hair follicle melanocytes.”1 Segmental vitiligo is de ned
who is concerned about his pigment loss (Figure 167-1). He is similarly except for a unilateral distribution that may totally or par-
starting to develop this vitiligo around the mouth and his mother tially match a dermatome; occasionally more than one segment is
wants him to be treated. The child was started on a topical steroid involved. 1
FIGURE 167-1 Vitiligo in an 8-year-old Hispanic boy. A. Hands.

B B. Knees and hands. C. Perioral. (Used with permission from
Richard P. Usatine, MD.)
PART 14
952 CHAPTER 167
DERMATO LO GY
SYNO NYMS
Vitiligo vulgaris.
EPIDEMIO LO GY
population.
ETIO LO GY AND PATHO PHYSIO LO GY FIGURE 167-3 Vitilig o on the kne e s with the typ ical jag g e d e d g e s.
receptor genes were found to be associated with vitiligo in a popu- include subjective clinical assessment, semiobjective assessment
lation of Turkish patients. 4 -
ods), macroscopic morphologic assessment (e.g., visual, photo-
trauma (Koebner phenomenon). graphic in natural or UV light, or computerized image analysis),
micromorphologic assessment (e.g., confocal laser microscopy),
and objective assessment (e.g., software-based image analysis or
DIAGNO SIS spectrophotometry). Authors of a literature review concluded that
for assessing the degree of pigmentary lesions and measuring the

CLINICAL FEATURES
extent and progression of vitiligo.
borders (Figures 167-1 to 167-3).

presence of thyroid antibodies, 6,7 congenital nevi (in one study,
4
and halo
(Figure 167-4). nevi, 1
in one case series). 8
the normal surrounding skin makes the depigmented areas more
obvious.
FIGURE 167-4 This p reviously d ark-skinned p atie nt has only a few

sp ots of p ig me nt re maining on her arm b ecause of the e xte nsive vitilig o.
FIGURE 1 6 7 -2 Vitilig o o n the ne ck o f a Hisp anic b o y. (Use d with Her fathe r has the same cond ition. (Used with p ermission from Richard P.
p e rmissio n fro m Richard P. Usatine , MD.) Usatine, MD.)
PART 14
DERMATO LO GY
FIGURE 167-6 A hyp op ig me nte d p atch on the ab d ome n o f an infant

in a shap e that sug g e sts an ash le af. The child is othe rwise he althy with
no se izure s or d e ve lop me ntal d e lay b ut should b e monitore d for sig ns
of tub e rous scle rosis. This may b e nothing more than ne vus d e p ig me n-
tosus. (Use d with p e rmission from Richard P. Usatine , MD.)
BIO PSY
Not indicated unless the diagnosis is not clear and then a 4-mm punch
biopsy will suf ce.
and mild itching. Seen in young children and usually associated

B
FIGURE 167-5 Vitiligo occurs commonly around the e ye. A. Vitilig o with
normal e ye lashes. B. Vitiligo with leukotrichia. The loss of melanocytes
has turne d some of the eye lashes white. (Use d with p ermission from remain stable in size and shape over time (Figure 167-6). Often the
Richard P. Usatine, MD.)
TYPICAL DISTRIBUTIO N -
mented nevi that typically appear in adolescents and young adults
genitalia.
- whorls of skin present at birth along the Blaschko lines of develop-
licus, and anus is common (Figure 167-5 ment. This pattern may be accompanied by congenital abnormalities
involved it is called leukotrichia
called poliosis. birth helps distinguish it from vitiligo (Figures 167-7 and 167-8).
unilateral vitiligo were younger, and had an earlier age at onset

while those with bilateral vitiligo were more likely to have light localized hypersensitivity to catecholamines and not a decrease in
skin types and more commonly had associated autoimmune melanocytes. On diascopy (pressure with a glass slide) the skin is
disease.
helps distinguish it from vitiligo (Figure 167-9).
- childhood. There is a decreased number of melanosomes within a
-
litus (e.g., fasting blood sugar) should be considered, as vitiligo can -
be associated with these disorders. ate it from vitiligo (Figure 167-10).
PART 14
954 CHAPTER 167
DERMATO LO GY
FIGURE 167-9 Ne vus ane micus on the b ack of this p atie nt since b irth.
A This is a cong e nital hyp e rse nsitivity to localize d cate cholamine s. O n
d iascop y the skin was ind isting uishab le from the surround ing skin.
The irre g ular b ro ke n-up outline is se e n in ne vus ane micus and ne vus
d e p ig me ntosus. (Use d with p e rmission from Ryan O ’Q uinn, MD.)
MANAGEMENT
For assessing outcomes to treatment, the Vitiligo European Task

Force suggests a system combining analysis of extent using percentage
representing normal pigment and 4 complete hair whitening) on the

largest macule in each body region except hands and feet, and disease
the same largest macule in each body area. 1 An evaluation sheet can
be found in the citation. 1
B
FIGURE 167-7 A. Hyp ome lanosis of Ito in a 2-month-old g irl. It is a NO NPHARMACO LO GIC
rare synd rome with hyp op ig me nte d whorls of skin p re se nt at b irth
along the Blaschko line s of d e ve lop me nt. It is typ ically unilate ral and
e xte nd s d own an e xtre mity. B. Note the whorls on the che st and up p e r causes should be a primary focus as the clinical course is unpredictable
arm. (Use d with p e rmission from Richard P. Usatine , MD.) and, in some cases, little can be done to modify the condition itself.
FIGURE 167-8 Hyp ome lanosis of Ito e xte nd ing d own the arm of this
17-ye ar-old b oy since b irth. This was unilate ral and could b e mistake n FIGURE 167-10 Nevus d epigmentosus, present since b irth, on the chest
for se g me ntal vitilig o if it had not b e e n p re se nt since b irth. (Use d with of this 4-month-old infant. Note the serrated or jag ged edg e. Vitilig o is
p e rmission from Richard P. Usatine , MD.) not present at b irth. (Used with p ermission from Richard P. Usatine, MD.)
PART 14
DERMATO LO GY
A B
FIGURE 167-11 A. Vitilig o on the face of an 11-year-old g irl. B. Sig ni cant resolution of the vitilig o 2 months later after using
0.1 pe rcent triamcinolone cream once to twice d aily. The p atient and the mother were so hap p y with the results. There were no
sig ns of skin atrop hy or steroid side effects. (Used with permission from Richard P. Usatine, MD.)
trauma may be useful. SOR alternative for localized vitiligo and display comparable effective-
ness with fewer side effects. 14 SOR
MEDICATIO NS α
Topical treatments used for vitiligo include corticosteroids, agents (in iximab, etanercept, and adalimumab given according to
treatment regimens used for psoriasis) were not effective for wide-
treatments had mixed outcomes based on a systematic review, spread nonsegmental vitiligo.
with topical steroids having the highest rate of adverse events. 11
SOR CO MPLEMENTARY/ ALTERNATIVE THERAPY
11
forte oil, and minoxidil.

O THER TREATMENT
moderate- to high-potency topical corticosteroids 64 percent -
ther trauma to unaffected skin, and to minimize contrast between
these areas. 14 SOR
initial presentation. SOR (Figure 167-11 -
mentation to reduce contrast with depigmented areas can improve
follow-up. Two children were given the diagnosis of steroid- cosmetic appearance. 14 SOR A monobenzylether of hydroqui-
affected areas were eight times more likely to have an abnormal

cortisol level compared with children who were affected in other irreversible and makes the skin at higher risk for sunburn.
body areas. Therefore, a trial of topical steroids may be useful
for patients with localized vitiligo that does not predominantly PRO CEDURES
involve the head and neck. SO R -
therapy, and most combinations include a form of phototherapy;
or very potent) are the preferred drugs for localized vitiligo narrow-band UVB appears to be the most effective with the few-
- est adverse effects (Figure 167-12). 11,14 SO R
mended. SO R
PART 14
956 CHAPTER 167
DERMATO LO GY
PATIENT EDUCATIO N
any psychological distress.
progressive periods of activity interspersed with times of inactivity.
need for prolonged or repeat treatment.
PATIENT RESO URCES

Vitiligo http:// health.nih
.gov/ topic/ Vitiligo.
http:// www.health nder.gov/ orgs/ HR2242.htm.

FIGURE 167-12 Vitilig o, which sp are d the are a und e r a ring ; the http:// nv .org/ index.php.
p atie nt has sp otty re turn of p ig me nt on hand with narrowb and UVB
tre atme nt. (Use d with p e rmission from Richard P. Usatine , MD.) Vitiligo http:// www.nlm.nih.gov/
concurred that majority of analyses showing statistically signi - PRO VIDER RESO URCES
cant differences in treatment outcomes were from studies that
assessed combination interventions including some form of light Vitiligo http: // emedicine.medscape.com/
treatment. 16 article/ 1068962.
Vitiligo
responses especially in localized vitiligo of the face, where the http:// nv .org/ pages/ info_physician_handbook.php.
excimer laser may be superior to UVB therapy. By combining with
topical immunomodulators, treatment response can be acceler-
ated. 14 SO R - REFERENCES
tion rates for once, twice, and thrice weekly treatment approached -
17
Although repigmentation occurred fastest with thrice weekly Force. Pigment Cell Res
treatment, the nal repigmentation depends on the total number
of treatments, not their frequency. SO R J Clin Dermatol
-
as the success of each treatment modality depends on the type and Int J Dermatol.
location of vitiligo. SOR
PRO GNO SIS polymorphisms in Turkish vitiligo patients. J Eur Acad Dermatol
Venereol
The course of vitiligo varies, but is usually progressive with peri-
ods of activity interspersed with times of inactivity. 18 Spontaneous -
repigmentation can occur but is rare. ods for the evaluation of vitiligo. J Eur Acad DermatolVenereol
the acral areas are least responsive. 14 SO R
pregnancy.
patients. Dermatology
FO LLO W-UP thyroid dysfunction in patients with vitiligo. Acta DermVenereol.
treatment. Acta Dermatovenerol

Croat
PART 14
DERMATO LO GY
-
logic case-control study in a population with vitiligo. JAmAcad J Dtsch Derma-
Dermatol tol Ges
Postgrad Med generalized vitiligo with anti-TNF-α agents. J Drugs Dermatol.
Am J Clin Dermatol.
Cochrane Database Syst Rev
- Br J Dermatol.
G Ital DermatolVenereol BMJ
AmAcad Dermatol. women with vitiligo. Int J Dermatol

PART 14
958 CHAPTER 168
DERMATO LO GY
168 DISO RDERS O F INTRO DUCTIO N

HYPERPIGMENTATIO N Postin ammatory hyperpigmentation (PIH) is an accumulation of
Sig rid M Collie r, MD melanin in response to chronic in ammation that usually appears as
Je nnife r Kre jci-Mannwaring , MD brown, black, or grey macules or patches in the pattern of an under-
Richard P. Usatine , MD lying in ammatory condition. Postin ammatory hyperpigmentation
can result from any kind of irritant to the skin, but is more common
in conditions resulting in chronic irritation and in ammation, and is
more common in individuals with darker Fitzpatrick Skin Types IV,
PATIENT STO RY V, and VI. It is more severe and longer lasting if the underlying
in ammatory condition goes untreated though most PIH will fade
A 7-year-old African American girl was brought to her pediatrician within 6 to 12 months of treating the underlying in ammatory condi-
by her mom who was worried that she was itching and that her skin tion. For the girl in the preceding case, the PIH may resolve without
was getting darker. The pediatrician knew the girl well as a patient treatment after her atopic dermatitis clears up, but if the atopic der-
with asthma and allergic rhinitis. In fact, the girl performed the aller- matitis persists then the PIH will continue until the resolution of the
gic salute more than once in the of ce as she rubbed her itchy nose. underlying condition.
Morgan-Dennie lines were seen under her eyes (Figure 168-1A).
The mom undressed the girl to show the dark patches of skin around
her knees (Figure 168-1B). Atopic dermatitis is common in the
popliteal fossae and this girl clearly demonstrated the atopic triad: EPIDEMIO LO GY
atopic dermatitis, asthma, and allergic rhinitis. The darkening of the
skin around the knees and also seen on the neck is related to the
scratching and rubbing of the skin secondary to the pruritus of atopic in ammatory hyperpigmentation in the general population ranges
dermatitis. The pediatrician explained to the mom and child about from 0.42 percent in Kuwait to 55.9 percent in a sample population
the need to more aggressively treat the atopic dermatitis with from Michigan. 1
emollients and topical steroids. No promises were made about the
reversibility of the hyperpigmentation as each patient will respond 22 percent based on a sample of hospitalized children in
differently to treatment. Kentucky. 2
A B
FIGURE 168-1 A. Atop ic triad in a 7-ye ar-old g irl with De nnie -Morg an line s and a nasal cre ase . B. Postin ammatory hyp e rp ig me nta-
tion around the kne e s in the same g irl. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DISO RDERS O F HYPERPIGMENTATIO N 959
DERMATO LO GY
-
mon types of cutaneous hyperpigmentation, and although there are
in Nigeria estimate PIH to represent 49.5 percent of skin lesions

present in hospitalized children. 3 In studies of adults, “dyschromia”
is often used to combine disorders of hyperpigmentation, which
would include melasma, lentigines, and PIH so true prevalence is
dif cult to obtain. In one study dyschromia was the second most
common diagnosis among African American patients, but failed to
make it into the top 10 for Caucasian patients. 4
5
Asia, Africa (Figure 168-2), South America, and Native Americans.6
lesion varies, and PIH, erythema ab igne, and con uent and reticu-
lated papillomatosis (CARP) are more common in older children
and young adults versus young children (Figure 168-3). 7
-
embryologic mosaicism or genetic abnormalities, and may be seen at

birth or within a few weeks after birth (Figures 168-4 and 168-5).
Mongolian spots are nearly always present at birth (Figure 168-6). 7
FIGURE 168-3 Con ue nt and re ticulate d p ap illomato sis (CARP) in an
ob e se 15-ye ar-old b oy with g yne comastia. (Use d with p e rmission from
common in Asians and Blacks. 7 Conversely, linear and whorled Richard P. Usatine , MD.)
hypermelanosis shows no racial predilection. 8
acne vulgaris, atopic dermatitis (Figure 168-7), and impetigo, but any
insult to the skin from bug bites and minor burns to drug reactions and
other rashes can result in postin ammatory hyperpigmentation.1,5
whether the pigment accumulates in the epidermis or in the dermis.
FIGURE 168-2 An African b oy with a long history of ato p ic d e rmatitis

and ne wly d iag nose d scab ie s. Note how the p ostin ammatory hyp e r-
p ig me ntation is conce ntrate d around the waist and fore arms. (Use d FIGURE 168-4 Café au lait macule in a g irl found to have tub e rous
with p e rmission from Richard P. Usatine , MD.) scle rosis. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
960 CHAPTER 168
DERMATO LO GY
FIGURE 168-5 Ne vus of the O ta with a b lue -g ray coloration around FIGURE 168-7 Postin ammatory hyp e rp ig me ntation ove r the le g s in a
the e ye . (Use d with p e rmission from Richard P. Usatine , MD.) b lack child with se ve re atop ic d e rmatitis. (Use d with p e rmission from
John Browning , MD.)
This can be helpful in terms of understanding the pathophysiology,

characteristic appearances, and treatment modalities associated with mediated destruction of keratinocytes, which results in melanin
the two categories. release and its accumulation within macrophages in the upper der-
mis. 1 Histologically this is described as “pigment incontinence.”
release of in ammatory molecules such as prostanoids, cytokines,
chemokines, and other products of arachidonic acid which leads to and accumulation of pigment in the dermis is re ected in the
increased melanocyte activity, increased melanin production and appearance of the lesion on the skin. Dermal lesions tend to be a
release, and accumulation of melanin in adjacent keratinocytes. 1,5,9,10 blue-gray color with indistinct boundaries and epidermal lesions
tend to be tan, brown, or dark brown and with more sharply
demarcated borders. 1,11
pathophysiology and the cutaneous appearance also exists; the color

and shape of the pigment generally re ects both the location of mela-
nin and the degree of melanocytic hyperplasia or release of melanin.7
DIAGNO SIS
CLINICAL FEATURES
total duration of the in ammatory process, where chronic or

relapsing in ammatory processes cause darker and longer lasting
hyperpigmentation. 1
-
uted melanin pigment in their skin. In turn, they tend to react to
FIGURE 168-6 De rmal me lanocytosis (Mong olian sp ot) ove r the b ut- in ammation with more accumulation of pigment, and therefore
tocks of a ne wb orn. (Use d with p e rmission from Richard P. Usatine , MD.) PIH tends to present with darker lesions that last longer. 1,12
PART 14
DERMATO LO GY
hyperpigmented lesions. 13
of PIH, and dermal hyperpigmentation tends to last longer since the

dermis does not continuously turnover like the epidermis.13
the initial in ammatory process and consists of macules or patches. 12
epidermal and dermal hyperpigmentation, where epidermal lesions

will have distinct margins and a prominent border whereas dermal
lesions will have uffy, indistinct margins. 5
FIGURE 168-9 Tine a ve rsicolor on the b ack of a 16-ye ar-old b oy. Note
BIO PSY the p inkish b rown coloration. (Use d with p e rmission from Richard P.
In general, skin biopsies are unnecessary, but if the etiology is uncertain a Usatine , MD.)
4-mm punch biopsy can help determine the underlying cause of PIH. The
Fontana-Masson stain is used to identify melanin in the skin and is useful in inframammary region or interscapular region, and often spreads
in distinguishing between epidermal and dermal hyperpigmentation.5 to the chest or abdomen (Figure 168-3). It can be found on the
face, neck, extremities, anks, or gluteal cleft. The etiology is
unknown, but potential causes include a keratinization disorder, a
DIFFERENTIAL DIAGNO SIS reaction to a fungal or bacterial infection, photosensitivity, amyloi-
dosis, and genetic factors. 14,15
with or without pruritus (Figure 168-8). It is generally rst seen

while PIH is typically at macules or patches where there were previous
lesions. Tinea versicolor occurs in a similar distribution to CARP (on the
torso) but tinea versicolor is scaly patches and responds to oral or topical
antifungal therapy (Figures 168-9 and 168-10).
CARP is a rare disorder, but it is most commonly seen in young
it is more common in females than in males, but the gender

distribution varies in different parts of the world. Minocycline is
FIGURE 168-10 Tine a ve rsicolor with a cap e -like d istrib ution ove r
FIGURE 168-8 Con ue nt and re ticulate d p ap illomato sis (CARP) on the che st in a b lack te e nag e b oy. Note how the Malasse zia furfur has
the b ack of an African Ame rican g irl. (Use d with p e rmission from cause d a b rown hyp e rp ig me ntation. (Use d with p e rmission from
Richard P. Usatine , MD.) Richard P. Usatine , MD.)
PART 14
962 CHAPTER 168
DERMATO LO GY
FIGURE 168-11 Line ar and whorle d hyp e rme lanosis has b e e n p re se nt FIGURE 168-12 Se g me ntal hyp e rp ig me ntation in a he althy 8-ye ar-old
since b irth in this othe rwise he althy child . (Use d with p e rmission from b oy. Le sion ap p e are d shortly afte r b irth as a faint p atch and b e came
Kane KS, Lio P, Stratig os AJ, Johnson RA. Color Atlas and Synop sis of more ap p are nt in e arly child hood . (Use d with p e rmission from Je nnife r
Pe d iatric De rmatolog y, 2nd e d ition, Fig ure 12-8, Ne w York, NY: Kre jci-Mannwaring , MD.)
McGraw-Hill, 2009.)
considered the rst line treatment, but azithromycin, clarithromycin,

fusidic acid, and retinoic acid have also been effective in case reports
and case studies. 14
Figure 168-11) is
characterized by linear and whorled patches that occur along the
lines of Blaschko (lines of embryological development). 16 The
lesions can occur anywhere on the body, but typically spare the
mucous membranes, palms, soles, and eyes. 16
within a few weeks of birth and will progressively expand and
darken until the child is 1 to 2 years of age. The exact cause of
genetic mosaicism. 8
was associated with neurologic abnormalities, but the association is
very rare. 16,17 In general, there is no need to do neurologic testing
or brain imaging if the child seems normal and healthy. 8
-
hood as a hyperpigmented patch on the truck with a characteristic
delineation at midline, usually ventral giving them a dermatomal
appearance (Figure 168-12). They are typically not Blaschkoid
known associated abnormalities and is thought to be due to a

somatic mosaicism. 18
Figure
168-13). It is most commonly caused by prolonged exposure to
FIGURE 168-13 Erythe ma ab ig ne cause d b y re p e ate d strad d ling of a
heat or infrared. 19 Although it is rare in children, it has been p lace he ate r in an atte mp t to ke e p warm in a home without ce ntral
reported in children who use laptop computers directly on their he ating . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
DERMATO LO GY
FIGURE 168-14 Café au lait macule in a child with ne uro b romatosis. FIGURE 168-15 De rmal me lanocytosis (Mong olian sp ot) in a b lack
(Use d with p e rmission from Richard P. Usatine , MD.) infant. (Use d with p e rmission from Richard P. Usatine , MD.)
laps. 19
pads, and heated blankets. It is generally a self-limited condition, therapies have been attempted but none are very effective. 24
but prolonged exposure and recurrence of the lesions may predis-
19
or brown macular lesion that follows a dermatomal distribution usu-
ally unilaterally within the distribution of the ophthalmic and maxil-
macules or patches (Figure 168-14). They are commonly solitary lary branches of the trigeminal nerve. In addition to skin, it may
and present at birth though they can appear any time in the rst few involve ocular and oral mucosal surfaces (Figure 168-18). 25 These
years of life. 20
- is the same process on the body and usually found on the shoulder.
ple this warrants further investigation as these characteristics These lesions are often present at birth and tend to darken and
increase the likelihood of a coexisting condition like neuro broma- expand with age. It is more commonly seen in Asian children, but
tosis, tuberous sclerosis, McCune-Albright, or Noonan syndrome can occur in any race and shows no gender predilection. The risk of
(Figures 168-4 and 168-14). 20 There is no medical reason to treat
there is up to 10 percent risk of glaucoma if the eye is involved.
melanosomes, and increased melanocyte density. Skin lightening
25
creams are not effective, but several lasers have been used with These
risks make close follow-up important in pediatric patients. This
laser surgery include hypo/ hyperpigmentation, scarring, incom-

plete removal, and recurrence. 21
-
mented patch that can vary in size, but is most commonly found on
the gluteal region of newborns and infants (Figure 168-15). 22 It is
most prevalent in individuals of Asian and African ancestry, but it
can occur in individuals of any race. The lesion is benign, has no
known association with other congenital abnormalities, and will
disappear in most children by the age of 4 but sometimes persists. 22
for treatment.
characterized by blue-gray macules that may have a raised erythem-

atous border. 23 They are most often found on the trunk, extremi-
ties, and neck (Figures 168-16 and 168-17). These lesions of
unknown etiology are chronic and may grow larger and multiply
FIGURE 168-16 Ashy d e rmatosis (e rythe ma d yschromicum p e rstans)
in an 8-ye ar-old b oy that was con rme d b y a p unch b iop sy. (Use d with
between the ages of 10 and 30, but can occur at any age. 23 The p e rmission from Richard P. Usatine , MD.)
PART 14
964 CHAPTER 168
DERMATO LO GY
FIGURE 168-17 Ashy d e rmatosis (e rythe ma d yschromicum p e rstans) FIGURE 168-19 Multip le p atche s of d e rmal me lanocytosis (Mong o-
in a 4-ye ar-old g irl. (Use d with p e rmissio n from Richard P. Usatine , MD.) lian sp ots) on the b ack and b uttocks of a young b lack child . (Use d with
dermal pigmentation responds well to laser therapy with the

Q-switched ruby, Q-switched alexandrite, or Q-switched Nd: MANAGEMENT
26–28
The rst step in the management of PIH is to ascertain the underlying
cause of cutaneous in ammation or trauma and rule out other causes
consider and rule out child abuse as a possibly cause. 12 Bruising or
of pigmented lesions.
PIH that is linear or geometric in nature should raise concern for
The shape and distribution of the lesions should mirror the pattern
abuse. Also, lesions of abuse on the back or buttocks in a child can
of the underlying disorder and most patients with PIH will have a his-
Figure 168-19); however,
chronic skin condition it is important to consider congenital diseases
or other causes of hyperpigmentation, see differential diagnoses,
which was previously discussed.
If the underlying cause is a treatable condition then prompt treat-
ment is essential. Decreasing the development of additional PIH
12
NO NPHARMACO LO GIC
daily sunscreen use. Daily use of sun-
screen with an SPF of 30 or greater has been shown to decrease the
duration of postin ammatory hyperpigmentation and to prevent dark-
ening of existing lesions.1 Any gains made with topical or other thera-
they may not be as familiar sun protection behaviors given that they
have a lower propensity for sunburn. “Physical sunscreens” (ones that
are zinc or titanium based) are
FIGURE 168-18 Ne vus of O ta around the e ye with b lue -g ray scle ral preferred, however, on darkly pigmented skin they may leave a gray or
hyp e rp ig me ntation. (Use d with p e rmission from Richard P. Usatine , MD.) violaceous hue when applied and therefore an aesthetically acceptable
PART 14
DERMATO LO GY
product may be tricky. Sun protection should also include avoidance of hyperpigmentation, ulceration, scarring, reactivation of HSV, and
peak sun hours (10 am to 4 pm), the use of wide brimmed hats, and
long sleeves or pants depending on the body part affected. needed to achieve results.
TO PICAL TREATMENTS
and other disorders of hyperpigmentation. The treatments include 37

There is little data in
the current literature assessing the safety of these therapies in chil-
azelaic acid, kojic acid, and licorice extract, ascorbic acid, niacina- dren, though there are a few case reports of good outcomes in
mide, N-acetyl glucosamine, and soy. 1,12,29 In general, topical skin- children with xeroderma pigmentosum and congenital melano-
lightening agents are most effective on epidermal pigmentation and cytic nevi. 38,39
less effective for dermal hyperpigmentation. 12
can be used at various concentrations though there is no increase in fractional protolysis laser treatments have been effective in treat-
ef cacy at concentrations higher than 5 percent. 13,30 Controlled tri- ment of many hyperpigmented lesions including PIH, Mongolian
als have shown a decrease in skin hyperpigmentation as compared 21,40,41
The wave-
to baseline by 4 weeks after beginning therapy. 31 The potential side length of the system should be correctly matched to the depth of
effects include allergic dermatitis (most common), the develop- the lesion, and epidermal hyperpigmentation tends to respond best
ment of a ring of hypopigmentation around the lesions, and rarely to shorter wavelengths, whereas dermal hyperpigmentation tends
paradoxical darkening of the lesions (exogenous ochronosis). 32 to respond best to longer wavelengths. 41
taken to avoid increasing the pigmentation of the lesion or inducing
postin ammatory hyperpigmentation, as both of these are known
have shown signi cant improvement in the degree of pigmentation potential side effects of laser therapy. 40 A review of laser use in
and the lesion size. 31 Triple therapies combining 4 percent hydro- children concluded that laser therapies are safe in children and in
some cases are more ef cacious than in adults. 41
topical steroids (dexamethasone or uocinolone acetonide) resulted
in higher rates of complete skin clearing of melasma than either
PRO GNO SIS
trial on the use of triple therapy in PIH. 33
dependent on controlling the underlying in ammatory disease.

as monotherapy in the treatment of PIH. In one randomized con-
-
trol trial, 91 percent of the participants in the treatment group had
mentation will resolve in 6 to 12 months, and with treatment the
signi cant lightening of their lesions compared to 57 percent in the 5,31
Dermal hyperpigmen-
control group based on clinical evaluation. 34
tation has a comparatively prolonged course, and lesions can persist
- for years or be permanent despite treatment. 5
pounds as kojic acid, arbutin, niacinamide, n-acetyl glucosamine,
ascorbic acid, licorice extract, and soy in treating hyperpigmenta-
tion. Most of the evidence for the ef cacy of these naturally occur- FO LLO W-UP
ring chemicals is from trials for the treatment of melasma. 29
agents listed, topical soy extract is the only agent with signi cant
evidence in PIH. 13 Many of these compounds are marketed in over-
the-counter products and may also contain derivatives of retinoic may be suf cient. More aggressive treatment should be considered
acid such as retinol or retinyl. for lesions in aesthetically sensitive areas such as the face, or, if the
child experiences signi cant psychological distress.
PRO CEDURES
- to psychological distress, consider initiating treatment early but to
mented lesions are chemical peels and laser therapy. Both have been give parents realistic expectations. Most congenital or persistent
shown to be ef cacious in randomized controlled trials, but they lesions, if responsive, will do so to more invasive treatments such
remain second-line treatments and are generally only indicated in as laser therapy.
combination with or after treatment with topical agents have failed. 21
13
The chemi-
- PATIENT EDUCATIO N
icylic acid, and trichloracetic acid. 35,36 In general, super cial peels
are recommended for people with skin of color to decrease the risk -
of additional postin ammatory hyperpigmentation. Side effects of mary objective is to identify and eliminate the cause of in amma-
chemical peels include erythema, burning/ stinging, hypo/ tion in the skin.
PART 14
966 CHAPTER 168
DERMATO LO GY
-
ent and reticulated papillomatosis alleviated by various antibiotics.
JAmAcad Dermatol. 2001;44(4):652-655.
variable effectiveness and side effects and should be reserved for 15. Scheinfeld N. Con uent and reticulated papillomatosis: a review
cases that have not resolved with watchful waiting. of the literature. Am J Clin Dermatol. 2006;7(5):305-313.
Pediatr Dermatol.
PATIENT RESO URCES 2007;24(3):205-210.
www.nlm.nih.gov/ medlineplus/ ency/ article/ -
003242.htm. mentation and hyperpigmentation along the lines of Blaschko.
www.skinsight.com/ infant/ cafeauLaitMacule.htm. Arch Dermatol. 1996;132(10):1167-1170.
www.dermnetnz.org/ colour/ pigmentation.html. Br J
Dermatol. 2010;162(6):1337-1341.
child and review of the literature. Pediatrics. 2010;126(5):e1227-1230.
overview. 20. Shah KN. The diagnostic and clinical signi cance of cafe-au-lait
macules. Pediatr Clin North Am. 2010;57(5):1131-1153.
REFERENCES
Dermatol Surg. 2011;37(5):572-595.
a review of the epidemiology, clinical features, and treatment 22. Cordova A. The Mongolian spot: a study of ethnic differences and
options in skin of color. J Clin Aesthet Dermatol. 2010;3(7):20-31. a literature review. Clin Pediatr (Phila). 1981;20(11):714-719.
-
ings in hospitalized pediatric patients. Pediatr Dermatol. 1997; perstans: a case report and review. Cutis. 2001;68(1):25-28.
14(6):426-429. -
-
- of 14 cases. J Eur Acad DermatolVenereol. 2005;19(4):422-426.
Niger J Cutis.
Clin Pract. 2011;14(3):287-292. 2008;82(1):25-29.
4. Alexis AF, Sergay AB, Taylor SC. Common dermatologic disorders
in skin of color: a comparative practice survey. Cutis. 2007;80(5):
387-394. J Plast Reconstr Aesthet Surg.
2011;64(3):339-345.
hyperpigmentation: a common but troubling condition. Int J
Dermatol. 2004;43(5):362-365. alexandrite laser in treating nevus of ota. Dermatol Surg.
Clin Dermatol. 2011;37(10):1480-1485.
1989;7(2):55-65.
7. Taieb A, Boralevi F. Hypermelanoses of the newborn and of the uncommon but treatable entity. Lasers Surg Med. 2011;43(10):
infant. Dermatol Clin. 2007;25(3):327-336, viii. 960-964.
including mosaicism. Semin Cutan Med Surg. 1997;16(1):44-53. options for the management of hyperpigmentation. J Eur Acad
DermatolVenereol. 2011;25(10):1140-1145.
of arachidonic acid metabolites: possible role in postin ammatory 30. Perez-Bernal A, Munoz-Perez MA, Camacho F. Management of
pigmentation. Pigment Cell Res. 1992;5(5 Pt 2):357-361. facial hyperpigmentation. Am J Clin Dermatol. 2000;1(5):261-268.
-
and in-vivo studies. Br J Dermatol. 1992;127(41):43-47.
Dermatol -
Clin. 2000;18(1):91-98, ix. mentation. Cutis. 2008;81(4):365-371.
hypopigmentation and hyperpigmentation. Semin Cutan Med Surg. and postin ammatory hyperpigmentation. SkinTherapy Lett.
1997;16(1):36-43. 2006;11(9):1-6.
-
tory hyperpigmentation: etiologic and therapeutic considerations. triple-combination agent for the treatment of facial melasma.
Am J Clin Dermatol. 2011;12(2):87-99. Cutis. 2003;72(1):67-72.
PART 14
DERMATO LO GY
Topical tretinoin (retinoic acid) therapy for hyperpigmented le- of dermabrasion and chemical peels in the treatment of patients
sions caused by in ammation of the skin in black patients. N Engl with xeroderma pigmentosum. JAmAcad Dermatol.
J Med. 1993;328(20):1438-1443. 1995;32(4):623-626.
-
in darker racial-ethnic groups. Dermatol Surg. 1999;25(1):18-22. genital melanocytic nevus with dermabrasion and autologous cell
J Plast Reconstr Aesthet
peels in dermatology. Indian J DermatolVenereol Leprol. 2003;69 Surg. 2011;64(12):1672-1676.
(2):148-150.
dyspigmentation with fractionated resurfacing. Dermatol Surg.
- 2010;36(10):1499-1508.
mentation in black patients. A comparative study. Dermatol Surg. 41. Cordisco MR. An update on lasers in children. Curr Opin Pediatr.
1997;23(3):171-174; discussion 175. 2009;21(4):499-504.
PART 14
968 CHAPTER 169
DERMATO LO GY
SECTIO N 16 GENETIC SKIN DISO RDERS
169 GENO DERMATO SES

O lvia Re ve lo, MD
Michae l Bab cock, MD
INTRO DUCTIO N
There are more than 100 genetic syndromes with cutaneous

manifestations that are referred to as genodermatoses. There are
disorders of: pigmentation (e.g., albinism), corni cation (e.g.,
the ichthyoses and Darier disease), vascularization (e.g., Sturge-
Weber syndrome), connective tissue (e.g., Ehlers-Danlos syn-
drome), metabolism (e.g., phenylketonuria), immune system (e.g.,
Wiskott-Aldrich syndrome), and DNA repair (e.g., xeroderma
pigmentosa). Some textbooks are dedicated to the topic of geno-
FIGURE 169-1 Darier d isease with greasy hyperkeratotic scale in a
dermatoses alone. 1 This chapter introduces the topic and illustrates seborrheic distribution involving the face, neck, and chest. As this is
several genodermatoses. We will focus our discussion on Darier an autosomal d ominant genodermatosis, many memb ers of her mother’s
disease and pachyonychia congenita as an introduction to the family have this condition. (Used with permission from Yoon Cohen, MD.)
genodermatoses.
EPIDEMIO LO GY
DARIER DISEASE reported in approximately 1:30,000 to 1:100,000 people.
PATIENT STO RY autosomal dominant inheritance.
A 12-year-old girl presents to her pediatrician with a scaling rash

around her neck. A family history reveals that her mother, maternal
grandmother, maternal aunt, and uncle all have Darier’s disease.
Because this genodermatosis is inherited as an autosomal dominant
trait, the pediatrician states that this is likely to be the onset of her
Darier disease. The pediatrician prescribes a low potency steroid
cream to help the occasional itching that occurs with this new rash.
She suggests that the patient also see a local dermatologist. Years
later, the young woman returns and her rash is much worse. Upon
examination she had red greasy scale around the neck and over the
anterior chest (Figures 169-1 to 169-3). The patient states that she
was given the diagnosis of Darier disease by the dermatologist but
was unable to get an appointment during this acute are-up. She
asked the pediatrician if she could prescribe some 0.1 percent tri-
amcinolone cream because that is what has helped her in the past
and she ran out of it 1 month ago. The pediatrician agrees to give
her a prescription but encourages her to make an appointment with
her dermatologist to see what else can be done. She also notes that FIGURE 169-2 Darie r d ise ase are d up on the p oste rior ne ck and
up p e r b ack in the same p atie nt from Fig ure 169-1. Note the e rythe ma
the nails have the distinctive red-and-white striping seen in Darier and g re asy ye llow hyp e rke ratotic scale in the se b orrhe ic are a. (Use d
disease (Figure 169-4). with p e rmission from Yoon Cohe n, MD.)
PART 14
GENO DERMATO SES 969
DERMATO LO GY
A
FIGURE 169-3 Darie r d ise ase on the che st in any se b orrhe ic d istrib u-
tion ove r the ste rnum and around the b re asts in the same p atie nt from
Fig ure 169-1. (Use d with p e rmission from Yoon Cohe n, MD.)
mutation affects the way the cells interact together is still

unknown, but it results in abnormal epidermal differentiation. 2
DIAGNO SIS
B
FIGURE 169-5 A. Typ ical nail nd ing s in Darie r d ise ase showing
Figures 169-1 long itud inal b and s and long itud inal sp litting . B. V-shap e d nick at the
to 169-3 fre e marg in of the ng e rnail—the most p atho g nomonic nail nd ing in
Darie r d ise ase . (Use d with p e rmissio n from Richard P. Usatine , MD.)
The palms may have pits or keratotic papules, and the nails can
have V-shaped nicking and alternating longitudinal red and white

bands (Figures 169-4 and 169-5). The keratotic papules can be
intensely malodorous such that it can interfere with normal social
situations (Figure 169-6).
-
rheic distribution (face, ears, scalp, upper chest, upper back, and
groin; Figures 169-1 to 169-3 and 169-6). The axilla and inframam-
mary areas may be involved (Figure 169-3 -
tially treated disease, only the skin behind the ears may be affected.3
The nails are characteristically involved (Figures 169-4 and 169-5).
-

FIGURE 169-4 Darie r d ise ase of the ng e rnails with the typ ical re d
and white strip ing in the same p atie nt from Fig ure 169-1. (Use d with
p e rmission from Yoon Cohe n, MD.) genodermatosis with crusted erosions and accid vesicles distributed
PART 14
970 CHAPTER 169
DERMATO LO GY
are the mainstay of therapy. SO R There are many effective

nonprescription and prescription products that contain propylene
glycol, urea, or lactic acid. Ammonium lactate can be obtained in
lotion.
in some patients, but their main limitation is irritation. Adapalene

use may be effective in localized variants. SOR All retinoids are
contraindicated in pregnancy.
topical corticosteroids should be used on the face, groin, and axillae

to minimize side effects in these areas. SO R
A also be helpful as noted in some case reports. SOR These do

not have a risk of skin atrophy like steroids, but are generally more
expensive and have the controversial black box warning related to
the rare risk of skin malignancy and lymphoma.
of choice for severe disease. 2 SO R They should only be pre-

scribed by physicians who have experience with these medications.
selection, as they are teratogenic (category X) and can cause hyper-

lipidemia, hypertriglyceridemia, mucous membrane dryness, alo-
must not get pregnant for at least 1 month after stopping isotreti-
noin and at least 3 years after stopping acitretin.
are secondarily infected with bacteria. SO R

B
treatment modalities that are being investigated.
FIGURE 169-6 Darie r d ise ase in a more ad vance d stag e . A. Ce ntral
che st and ne ck are comp le te ly cove re d with hyp e rke ratotic g re asy
scale . B. The ce ntral b ack is also cove re d with hyp e rp ig me nte d hyp e r- corneal opacities are detected. SOR
ke ratotic g re asy scale . The p atie nt state s that warm we athe r worse ns
the rash and cause s incre ase d itching and an unp le asant
od or. (Use d with p e rmission from Richard P. Usatine , MD.) treatment option.
in the intertriginous areas as opposed to the greasy keratotic papules

thus, treatment is often warranted.
make this diagnosis.
FO LLO W-UP
with yellow greasy scale on the scalp, central face, and chest. This
Dermatitis). patients’ lipid panel and liver function tests approximately every
bacterial infection.
MANAGEMENT
PATIENT EDUCATIO N
trials to guide treatment.
-
ing factors (sunlight, heat, and occlusion) and with topical med-
ications, SO R but severe disease is best treated with oral
retinoids. SO R infections.
PART 14
DERMATO LO GY
PATIENT RESO URCES

-
-
tact information.
that is free of charge for children with skin conditions called

www.campdiscovery.org/ .
www.omim.org.
and clinics that perform prenatal diagnostic testing for certain

www.genetests.org.
FIGURE 169-8 Pachyonychia cong e nita showing the small ke ratotic
p ap ule s on the p almar sid e of the ng e rs. (Use d with p e rmission from
www.skinadvocateapp.com.
down the callus on the feet and the papules on the hands and elbows.
PACHYO NYCHIA CO NGENITA (PC) this is a rare genodermatosis, the pediatrician refers the young stu-
dent to his dermatologist.
PATIENT STO RY
A college student comes to the pediatrician’s of ce for a school physi- EPIDEMIO LO GY
pachyonychia congenita (type-1) and has been dealing with the rami -
from at least 227 families have been published. 7
accept the nail abnormalities (Figure 169-7) but nds that the hyper-
keratotic lesions on his hands, feet, and elbows can be painful (Fig-
ures 169-8 to 169-10). The thick calluses on his feet cause him the
most pain and he describes this problem to be like walking with peb- males that in females. 1
ammonium lactate to help dissolve some of the thickened
FIGURE 169-9 Pachyonychia cong e nita d e monstrating the hyp e rtro-

p hic callus found on the sole s of the fe e t. This p atie nt re lig iously use s
ke ratolytic top ical me d ications to ke e p the callus und e r co ntrol. At one
FIGURE 169-7 Pachyonychia congenita (typ e 1) showing the hyperke ra- time he was using a whe e lchair b e cause it was too p ainful to walk on
totic nail dystrop hy. (Used with p ermission from Richard P. Usatine , MD.) his fe e t. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 14
972 CHAPTER 169
DERMATO LO GY
FIGURE 169-10 Pachyonychia congenita showing hyperkeratotic papules FIGURE 169-11 Pachyonychia congenita involving all 10 ngernails with
on the elbows. This patient also gets these on the buttocks, which can sub ungual hyp erkeratosis elevating the distal nail p late and causing some
make it painful to sit. (Used with permission from Richard P. Usatine, MD.) pincer-like deformities. (Used with permission from Eric Kraus, MD.)
(Figure 169-11). Typically involves all 20 nails, with finger-

ETIO LO GY AND PATHO PHYSIO LO GY nails being affected more often than toenails. Nail plates may
also be darkened, thickened and friable with increased risk of
- -
festations of ectodermal dysplasia associated with abnormal keratin
proteins involved in normal intermediate lament assembly. 7 This
defect disrupts the integrity of epithelial cells especially when fric-
tional stressors are applied.
associated with hyperhydrosis, steatocystoma multiplex, or epider-
- moid cysts. Steatocystoma multiplex is a condition in which there
ner, the rest arise from spontaneous mutations. 1,2
- Figure 169-12
may be coarse and brittle (pili torti).
clinical presentation. There has been an international effort in data
collection registry that has led to a new classi cation system pro-
- associated with KRT17 mutation.
presentation. 7
and excessive cerumen accumulation.
chromosome number associated with the keratin gene abnormality: ~ KRT6A and KRT6B exist as the classic painful nail dystrophy and
KRT6A, KRT6B, KRT16, KRT17. Therefore the new nomencla-
palmoplantar keratoderma typically not associated with other
7 phenotypes. 2
~ KRT16 is a focal nonepidermolytic palmoplantar keratoderma,
de ned as keratoderma of varying severity that may occur on the
palms and soles with absent or mild nail dystrophy. 2
DIAGNO SIS ~ KRT17 is associated with steatocystoma multiplex (Figure 169-12),
and can have absent or only mild nail dystrophy and palmoplantar
keratoderma. 2
of the four known keratin genes. The most common clinical nding
is hypertrophic nail dystrophy (Figure 169-7
painful focal keratoderma typically found on palms and soles or on DIFFERENTIAL DIAGNO SIS
pressure points or areas under recurrent friction stress (Figures
169-8 to 169-10). 2,7
since both may show nail dystrophy, palmoplantar keratoderma,
nail bed prior to typical nail changes. -
mentation, skin tumors, and hematologic manifestations are more
curvature, “pincer nail effect,” and elevation of distal nail plate speci c to dyskeratosis congenita.
PART 14
DERMATO LO GY
A C
FIGURE 169-12 A. p achyonychia cong e nita typ e 2 with e xte nsive ste atocystoma multip le x on the b ack. B. Close -up of ste atocystoma
multip le x. C. The d aug hte r is b e g inning to d e ve lop ste atocystoma multip le x on the che st. (Use d with p e rmission from Eric Kraus, MD.)
- -
tic acid and urea based creams and lotions. Ammonium lactate can
12 percent lotion. SO R
differentiate these entities. be attempted. Avulsion of the nail plate with matrix destruction
- can be used in severe, symptomatic cases. SO R
any (red-brown) spots and pustules. Also look for other signs of
- infection. SO R
-
logic changes. Attempting to minimize prolonged walking or standing may be
attempt to maintain an ideal body weight. SO R
down the hyperkeratotic areas to avoid painful buildup that can

MANAGEMENT add further friction and trauma to the foot. Soaking the feet in
The surface of the skin and the instruments used should be clean
to age and severity of symptoms. Often there is need to treat overly-
ing skin infection. Education about grooming practices is imperative. sterile needle. SO R
PART 14
974 CHAPTER 169
DERMATO LO GY
botulinum toxin. 1
FO LLO W UP
and supportive treatment of complications from skin excess.
and assessment of at-risk family members.
PATIENT EDUCATIO N
perspiration may worsen the condition and should be avoided. FIGURE 169-14 Pseudoxanthoma elasticum with a typical patch of soft
thickened pink skin on the neck. This young woman went on to have early
coronary artery disease. (Used with permission from Richard P. Usatine, MD.)
not indicated because the phenotype is readily observed from a
young age and no interventions can prevent the development of 8
manifestations or reduce their severity. The earliest sign is increased sun
sensitivity with easy sun burning in infancy. Dyschromic macules and
telangiectasias start to develop in a sun-exposed distribution within
There are no other known associated systemic risks or conditions.
the rst few years of life. After some time actinic keratosis followed
by various forms of skin cancer start to appear depending on the
amount of sun exposure. Ophthalmologic and neurologic manifesta-
Ad d it io nal Examp le s tions are associated. Treatment includes extreme sun avoidance (only
out early morning and evening) as well as protective barriers, cancer
XERO DERMA PIGMENTO SA screening, excision of skin cancers, and referral to dermatology,
ophthalmology, or neurology accordingly.
disorder resulting in early predisposition to malignancy mainly sec-

ondary to UV-light damage (Figure 169-13). The condition affects PSEUDO XANTHO MA ELASTICUM
approximately 1 in 1 million people in the US, but there seems to be
of connective tissue. There is a rare mutation in a transmembrane

transporter gene that in some way leads to the clinical manifesta-
9
Some key clinical features include yellow pap-
neck (Figure 169-14), axillae, antecubital fossae, abdomen, groin,

and thighs as well as mucous membranes. Eyes exhibit angioid
streaks, retinal pigmentation alteration, and may be associated with
macular degeneration and retinal hemorrhages causing blindness.
Other systems involved are the cardiovascular system (gastric
artery hemorrhage) and reproductive system ( rst trimester mis-
carriage). Diagnosis is clinical or with biopsy if needed. Treatment
is supportive with appropriate referrals as complications arise.
PATIENT RESO URCES

http:// ghr.nlm.nih.gov/
FIGURE 169-13 Xe rod e rma p ig me ntosum in an 8-ye ar-old g irl from condition/ pachyonychia-congenita.
Guate mala showing larg e hyp e rke ratotic le sions with some ind uration
susp icious of actinic ke ratosis and e arly sq uamous ce ll carcinoma. The re www.pachyonychia.org.
are also nume rous hyp e rp ig me nte d solar le ntig ine s. Marke d corne al
scarring and conjunctival inje ction is p re se nt. (Use d with p e rmission
from Jame s Halp e rn, Bryan Hop p ing , Joshua M Brostoff and Wikime d ia www.pachyonychia.org.
Commons.)
PART 14
DERMATO LO GY

linear Darier disease with topical adapalene. J Eur Acad Dermatol
Venerol. 2009;23(2):237-238.
www.omim.org.
Successful treatment of Darier disease with topical pimecrolimus.
and clinics that perform prenatal diagnostic testing for certain Eur J Dermatol. 2011;21(2):301-302.
www.genetests.org.
successfully treated with topical tacrolimus. J Eur Acad Dermatol
Venereol
contact information for various patient advocacy groups. Gene Reviews. 2006; U of
WA, Seattle; http://
REFERENCES .
Genodermatoses: A Clinical Guide to Genetic Skin Disorders, 2nd Orphanet Journal of Rare Diseases. 2011;6:70. http://
Dermatology Gene
2003. Reviews. 2001; U of WA, Seattle; http://
Andrews’ Diseases of the Skin: Clinical
Dermatology, 11th ed. Amsterdam, The Netherlands: Elsevier; 2011.
PART 14
976 CHAPTER 170
DERMATO LO GY
170 VASCULAR Sturge-Weber to avoid making the mother anxious but will continue
to follow the child’s development over time. The dermatologist also
AND LYMPHATIC explained that the child may choose to have laser treatment in the
MALFO RMATIO NS future if the capillary malformation is causing psychological distress.
Nathan Hitze man, MD INTRO DUCTIO N
Vascular malformations at birth range from the very common and

benign salmon patch to rare but serious neurocutaneous syndromes
PATIENT STO RY (Sturge-Weber syndrome). Cutaneous lymphatic malformations are
seen in a relatively rare condition called lymphangioma circum-
A 6-month-old African American boy is brought to his pediatrician scripta. Osler-Weber-Rendu syndrome (hereditary hemorrhagic tel-
for his six-month well-baby exam and immunizations. The mother angiectasia) is a rare vascular disorder that is inherited an autosomal
asks whether the red mark on the forehead and right eyebrow from dominant manner. Childhood hemangiomas are covered separately in
birth will ever go away (Figure 170-1). The pediatrician refers the Chapter 93, Childhood Hemangiomas.
child to a dermatologist that explains that this is a capillary malforma-
tion called a port-wine stain and that it will remain there for the rest
of the child’s life. He also notes that it is less likely but still possible SYNO NYMS
for this to be a salmon patch that could resolve spontaneously
(although most salmon patches are lighter and midline). He states There are two major types of capillary malformations present at birth:
that it is not necessary to perform a biopsy because either way it is a
capillary malformation that will not cause the child any physical nevus simplex, telangiectatic nevus, and nevus ammeus nuchae) is
harm. As it only involves part of V1 and none of V2, it is extremely a super cial capillary malformation and is likely to resolve sponta-
unlikely to be part of the neurocutaneous syndrome known as Sturge- neously (Figure 170-2). Using the term capillary stain is one-way
Weber syndrome. The pediatrician decides to not even bring up to denote how super cial it is.
the dermis and does not involute over time (Figure 170-3). In fact,
it may increase in size, thickness, and become more nodular over
time. It is this type of capillary malformation that may be associated
with Sturge-Weber syndrome or Klippel-Trenaunay syndrome.
circumscriptum or cutaneous lymphangioma circumscriptum

(Figure 170-4).
FIGURE 170-1 Cap illary malformation since b irth on the fore he ad and
rig ht e ye b row of this 6-month-old infant. This is like ly to b e a p ort-wine
stain since it is not mid line and it is d arke r than most salmon p atche s. FIGURE 170-2 Salmon p atche s on the e ye lid s (ang e l kisse s), g lab e lla,
As it only involve s p art of V1 and none of V2 it is e xtre me ly unlike ly to fore he ad and nose in this he althy 2-month-old infant. Note how the
b e p art of the Sturg e -We b e r synd rome . (Use d with p e rmission from p ink color is faint and the fore he ad involve me nt is mid line . (Use d with
PART 14
VASCULAR AND LYMPHATIC MALFO RMATIO NS 977
DERMATO LO GY
FIGURE 170-5 Hered itary hemorrhagic telang iectasias (Osler-Weber-

Rendu syndrome) in a teen with recurrent nosebleed s and visible telangi-
ectasias on the lip s and tongue. (Used with permission from Kane KS, Lio
P, Stratigos AJ, Johnson RA. Color Atlas and Synopsis of Pediatric Derma-
tology, 2nd edition, Figure 8-10b, New York, NY: McGraw-Hill, 2009.)
in 0.6 to 2.8 percent of infants as developmental anomalies. 3,4 They

persist into adulthood. They may be associated with rare syndromes
such as Klippel-Trenaunay and Sturge-Weber syndromes (see
FIGURE 170-3 Port-wine stain on the face of this 6-ye ar-old hap p y Chapter 207, Sturge-Weber Syndrome).
and he althy g irl. While he r mothe r would like to se e the p ort-wine stain
re move d she und e rstand s that he r d aug hte r is too young for lase r the r-
-
ap y. (Use d with p e rmission fro m Richard P. Usatine , MD.) inant vascular disorder that affects one in several thousands of peo-
ple (Figure 170-5). Certain populations in Europe and the US
have a higher prevalence of this disease. 5
EPIDEMIO LO GY -
phatic tissue and is rare.
present in 26 to 64 percent of newborns. 1–4 The angel kisses over

the face tend to fade with time but the stork bites on the nape ETIO LO GY AND PATHO PHYSIO LO GY
of the neck often persist (Figure 170-2).
from a de ciency of sympathetic nervous innervation to the blood

vessels. Dilated capillaries are present throughout the dermis layer
of the skin.
-
mosome 9 (HHT type 1) and activin receptor-like kinase-1 on
chromosome 12 (HHT type 2). These genes are involved in vascu-
lar development and repair. With the mutations, arterioles become
dilated and connect directly with venules without a capillary in
between. Although manifestations are not present at birth, telangi-
ectasias later develop on the skin, mucous membranes, and GI
to bleeding. 5
skin, subcutaneous tissues and intestines. 6 These lymphangiomas

FIGURE 170-4 Clo se -up of lymp hang io ma circumscrip tum p re se nt
are hamartomatous in nature with the most super cial version
fro m b irth o n the trunk o f this 7-ye ar-o ld g irl. The ve sicle s vary in co lo r being lymphangioma circumscriptum. Deeper versions are called
fro m ye llow to p ink and re d . The re d colo r is d ue to b lo o d within the cavernous lymphangiomas and cystic hygromas. The dilated ectopic
d ilate d lymp hatic ve sse ls. Note how this p atte rn re se mb le s frog
sp awn. (Use d with p e rmissio n fro m Richard P. Usatine , MD.)
lymph vessels protrude from the skin forming vesicles.
PART 14
978 CHAPTER 170
DERMATO LO GY
on the forehead are midline.
smooth in infancy but may hypertrophy and develop a cobblestone

texture with age (Figures 170-1 and 170-3).
-
mations, venous varicosities, and soft-tissue hyperplasia over an
entire limb or another part of the body. This may cause hemihyper-
trophy of a single extremity such as the leg (Figure 170-7).
delays, epilepsy, and ophthalmology problems (see Chapter 207,

Sturge-Weber Syndrome).
met (and suspected if two are present):

1. Recurrent spontaneous nosebleeds (the presenting sign in more
than 90 percent of patients, often during childhood);
Figure 170-5; typically develops
in the third decade of life);
3. Visceral involvement (lungs, brain, liver, and colon); and/ or
4. An affected rst-degree relative. 7
in groups are clusters on the skin. These can be clear, pink or

red depending upon the amount of blood within them (Figures
FIGURE 170-6 Salmon p atch on the fore he ad and g lab e lla of this
170-8 and 170-9). These vesicles can resemble frog spawn
othe rwise he althy infant. This will sp ontane ously fad e ove r time . Note (Figure 170-10).
how the p ink color is faint and the fore he ad involve me nt is mid line .
DIAGNO SIS posterior neck (Figures 170-2 and 170-6

on the forehead are midline.
CLINICAL FEATURES
may affect any body surface, including mucous membranes (Fig-
super cial capillaries over the eyelids, glabella, forehead and poste- ures 170-1 and 170-3
rior neck (Figures 170-2 and 170-6). These may be so faint that tend to affect the lower extremities (Figure 170-7). A diagnosis of
A B
FIGURE 170-7 Klip p e l-Tre naunay synd rome with a p ort-wine stain ove r the le ft thig h. O ve r time , more massive vascularization and e nlarg e me nt
of the limb will d e ve lop . A. Ante rior le ft thig h. B. Butto cks and p oste rior thig h. (Use d with p e rmission from We inb e rg SW, Prose NS, Kristal L.
Color Atlas of Pe d iatric De rmatolog y, 4th e d ition, Fig ure s 20-35 and 20-36, Ne w York, NY: McGraw-Hill, 2008.)
PART 14
DERMATO LO GY
FIGURE 170-10 Lymp hang ioma circumscrip tum on the trunk o f te e n-

ag e r that occurre d afte r surg e ry. Not all lymp hang ioma circumscrip tum
FIGURE 170-8 Lymp hang ioma circumscrip tum since b irth on the trunk is cong e nital. No te how this p atte rn re se mb le s frog sp awn. (Use d with
o f this 7-ye ar-old g irl. It is asymp tomatic b ut the p are nts would like p e rmission from Richard P. Usatine , MD.)
to kno w if it can b e re mo ve d . (Use d with p e rmissio n from Richard P.
Usatine , MD.)
in patients with HHT. They are at higher risk for iron-de ciency
Sturge-Weber syndrome requires that a port-wine stain be present anemia because of recurrent nosebleeds and/ or GI bleeding.
in the trigeminal nerve distribution (see Chapter 207, Sturge-
Weber Syndrome). and glaucoma testing. Neuroimaging may reveal leptomeningeal
malformations ipsilateral to the port-wine stain. An electroen-
lips, nasal mucosa, hands, and feet (Figure 170-5). However, any cephalogram may reveal epilepsy. Elevated ocular pressures or
skin area or internal organ may be involved. visual eld de cits may indicate glaucoma (see Chapter 207,
Sturge-Weber Syndrome).
trunk (Figures 170-8 to 170-10), extremities, tongue, vulva, and
genitalia. DIFFERENTIAL DIAGNO SIS
LABO RATO RY STUDIES -
lary malformations, especially if they are relatively at. These are
lymphangiomas who lack other concerning symptoms, do not very different pathophysiologically as these hemangiomas are actu-
require laboratory testing. ally benign vascular tumors rather than malformations. Hemangio-
mas are usually raised and will involute over time (see Chapter 93,
Childhood Hemangiomas).
segmental, they can be confused with the port-wine stain following

a dermatomal distribution of the trigeminal nerve (Figures 170-11
and 170-12).
mottling of the skin with a pink, red or bluish coloration when the
infant is exposed to cold temperatures. It usually occurs on the
lower extremities and is evanescent (Figure 170-13).
(lobulated capillary hemangioma) could be mistaken for a congeni-

tal capillary or lymphatic malformation but a good history should
birth and often follow local trauma to the area. They are often
FIGURE 170-9 Lymp hang ioma circumscrip tum ne ar the waist of this -
18-ye ar-old fe male afte r scle rothe rap y was p artially e ffe ctive . She is
hop ing that ad d itional the rap y will re move this from he r skin. (Use d ment, sclerodactyly, and telangiectasia) syndrome and scleroderma
with p e rmission from Richard P. Usatine , MD.) usually have multiple telangiectasias as in HHT. Other clinical
PART 14
980 CHAPTER 170
DERMATO LO GY
FIGURE 170-13 Infant with cutis marmorata showing a re ticular p ink

ne twork that occurs whe n the child is cold . (Imag e use d with
p e rmission from Rob e rt Brod e ll, MD.)
FIGURE 170-11 Infant with PHACE synd rome and a larg e se g me ntal most port-wine lesions to some degree, but complete resolution
he mang ioma ove r the face . The child also has a cong e nital colob oma is dif cult to achieve and the recurrence rate is high. 8 SO R
of the rig ht e ye . (Use d with p e rmission from ang e l face .com.)
In a Cochrane systematic review of the literature, pulse dye
laser resulted in a 25 percent reduction in redness over 1 to
3 treatments. 9
features and laboratory tests such as the antinuclear antibody
(ANA) can differentiate between these rheumatologic conditions
sometimes needed as a result of bleeding. Few randomized con-
trolled trials exist regarding treatment of bleeding. Estrogen/ pro-
gesterone supplementation for heavily transfusion-dependent
MANAGEMENT female patients decreases recurrent bleeding. 10 SOR Case
reports and uncontrolled studies regarding epistaxis treatment
show some bene t from laser treatment, surgery, embolization,
and topical therapy. SOR Cauterization is not recommended
treatment is another cosmetic option available to teens and because of complications from local tissue damage. Embolization
when other measures fail. 5 In short, it is often best to do as little

intervention as possible with HHT and, if any intervention is done,
it is done by specialists experienced with this disease, as complica-
tions and recurrence are frequently encountered.
circumscriptum including surgery, electrosurgery, cryosurgery,

sclerotherapy, topical imiquimod, and carbon dioxide laser. 11–15 In
a systematic review of carbon dioxide laser for lymphangioma cir-
cumscriptum, 11 case reports and 5 case series with a total of 28
separate patients were identi ed. Eight patients remained disease
free from 4 months to 3 years, 10 experienced partial recurrence,
and two experienced complete recurrence. 16
weeping, hemorrhagic, and painful lymphangioma on her right but-

tock, the authors attempted therapeutic treatment with pulsed dye
laser. 15 The lesion appeared unchanged after two trials and so three
sessions of electrodessication were applied to the aberrant lym-
FIGURE 170-12 Infant with PHACE synd rome . In this case the he man-
g ioma is at with many te lang ie ctasias and re se mb le s a p ort-wine phatic vessels. The lesion largely resolved without complications
stain. (Use d with p e rmission from John Browning , MD.) and was no longer causing pain or emotional distress. 15
PART 14
DERMATO LO GY
-
nique of radiofrequency ablation (RFA) and sclerotherapy for their in 1000 consecutive Iranian newborns. Pediatr Dermatol. 2006;
lymphangioma circumscriptum. 11 The sessions were repeated at 23:61-63.
monthly intervals until complete clearance. Nine of 10 patients
who were treated with the combination technique achieved near- Skin changes in newborn infants in the rst 5 days of life. Hautarzt
complete clearance. RFA ablates the lesions and achieves hemosta- 2000;51:396-400.
sis while the sclerosant injected in and around the lesion reaches
the deeper vascular lesions, preventing recurrence. 11
newborns: clinical observation in two northern Taiwan medical
center nurseries. Chang Gung Med J. 2007;30:220-225.
FO LLO W-UP CMAJ
2009;180:833-835.
-
for patients with HHT and Sturge-Weber syndrome. scriptum: frog spawn on the skin. Int J Dermatol. 2009;48:
1290-1295.
examinations that include testing of intraocular pressures SO R
(see Chapter 207, Sturge-Weber Syndrome). for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber
syndrome). Am J Med Genet. 2000;91:66-67.
PATIENT EDUCATIO N port-wine stains. Br J Dermatol. 2004;151:527-533.
- or light sources for treating port-wine stains. Cochrane Database

able information about the current and future outlook for their Syst Rev. 2011;CD007152.
condition.
-
intestinal vascular malformations with oestrogen-progesterone.
PATIENT RESO URCES
Lancet. 1990;335:953-955.
www.nlm.nih.gov/ medlineplus/ ency/ -
article/ 001388.htm. gioma circumscriptum) treated using a minimally invasive tech-
nique of radiofrequency ablation and sclerotherapy. Dermatol Surg.
2010;36:1711-1717.
www.hht.org.
- vulvar lymphangioma circumscriptum: two case reports. Tokai
J Exp Clin Med. 2011;36:17-20.
www.covermark.com. -
scriptum with sclerotherapy: an ignored effective remedy.
www.dermablend.com. J Cosmet Dermatol. 2011;10:156-158.
-
PRO VIDER RESO URCES Dermatol Surg.
http:// emedicine.medscape 2012;38:1566-1569.
Laser Treatment of Acquired and Congenital Vascular circumscriptum successfully treated with electrodessication
Lesions http:// emedicine.medscape.com/ following failure of pulsed dye laser. Dermatol Online J. 2013;19:2.
article/ 1120509.
dioxide laser for the treatment of microcystic lymphatic malfor-
mations (lymphangioma circumscriptum): a systematic review.
REFERENCES Dermatol Surg. 2013;39:1147-1157.
birthmarks and transient skin lesions in 1,000 Spanish newborns.

Actas Dermosi liogr 2011;102:264-269.
PART 14
982 CHAPTER 171
DERMATO LO GY
hypohidrosis, and skin fragility. Management is typically symptom-

171 ICHTHYO SIS atic, attempting to reduce morbidity, and often involves coordinated
William A. Mille r, MD, MPH, MSc care with a dermatologist.
SYNO NYMS
Epidermolytic ichthyosis (EI)—Formerly known as epidermolytic

PATIENT STO RY
hyperkeratosis (EHK) or bullous ichthyosiform erythroderma (BIE),
nonbullous congenital ichthyosiform erythroderma (NBIE) or con-
Two brothers are seen during a medical mission in Africa for their dry
genital ichthyosiform erythroderma (CIE).
-
Lamellar ichthyosis—Also known as nonbullous congenital ichthy-
ing the antecubital fossae of the arms amidst the heavy scales (Figure
osis, one of the autosomal recessive congenital ichthyoses (ARCI).
171-1). With the help of a translator, the condition is explained to the
mother and her boys. It turns out the mother’s father also had the
same condition but never received a diagnosis or had any medical
care. The suggested treatment is daily emollients and keratolytics.
EPIDEMIO LO GY
Figure 171-2), with

INTRO DUCTIO N approximately 1 in 250 individuals affected. 2 Males and females are
affected equally.
Ichthyoses were recently reclassi ed by consensus with respect to
nomenclature and whether they involved organs in addition to the to 6000 males. 3 Because of its frequent occurrence, steroid sulfa-
skin (syndromic). 1 This chapter addresses four relatively more com-
mon ichthyoses pediatricians may encounter: ichthyosis vulgaris, normal steroid sulfatase level in a male with ichthyosis does not
4
ichthyosis. Common features of the ichthyoses include thick, dry

skin, various forms and degrees of scaling, cutaneous in ammation, Prevalence of approximately 1 in 200,000 to 300,000 persons. 5
A B
FIGURE 171-1 A. X-linke d ichthyosis in two b rothe rs showing sp aring of the ante cub ital fossae of the arms amid the he avy
scale s. B. He avy sh scale of X-linke d ichthyosis on the le g s of the same two affe cte d b rothe rs. (Use d with p e rmission from
PART 14
ICHTHYO SIS 983
DERMATO LO GY
FIGURE 171-2 Ichthyosis vulg aris starts in child hood and has a ne
scale . (Use d with p e rmission from Richard P. Usatine , MD.)
The most common form of autosomal recessive congenital ichthyo-

sis (Figure 171-3). 6,7

B
of function mutations in the laggrin gene. 2,8 It is inherited in an FIGURE 171-3 Lame llar ichthyosis is more rare and se ve re than
autosomal dominant manner and presents in childhood with a ne X-linke d ichthyosis. A. No te the d e e p line s and se ve re d ryne ss of the
Fig- skin on the face of this g irl with lame llar ichthyosis. B. He r arm is
se ve re ly affe cte d so that she cannot e xte nd he r e lb ow fully. (Use d with
ure 171-2). Patients frequently have hyperlinear palms, keratosis p e rmission from Richard P. Usatine , MD.)
pilaris, and atopic dermatitis, which are not commonly associated
in keratinocyte retention by inhibiting desmosome degradation. 9 It

Figure 171-4). with warm weather. However, it typically does not clear com-
pletely.
manner and is due mutations leading to production of faulty keratin
proteins that function poorly. 10 abdomen, and trunk, while exural areas are typically spared.
from mutations in the transglutaminase 1 gene. 11 Manifests with keratosis pilaris.

plate-like scales involving most of the body, including the face and
exures (Figure 171-3). Patients are typically born as a collodion
baby (a thin translucent membrane that surrounds the baby at
X-LINKED ICHTHYO SIS
birth). 12
early in the life of young affected boys whose mothers were carriers
DIAGNO SIS Extracutaneous involvement may include ocular and testicular
manifestations. Patients have an increased incidence of cryptorchi-
ICHTHYO SIS VULGARIS dism and are at an increased risk of testicular cancer, independent
of the risk from cryptorchidism alone. 2,3 These patients may have
presenting with ne scale, sometimes centrally tacked-down with corneal opacities which do not affect their vision. 9,13
super cial ssuring, varying degrees of dry skin, and hyperlinear are delivered by caesarean section because a placental sulfatase
palms and soles. 2 Some patients improve with age and especially de ciency results in failure of labor progression. 14,15
PART 14
984 CHAPTER 171
DERMATO LO GY
A B
FIGURE 171-4 X-linke d ichthyosis in a 9-ye ar-old b oy whose mate rnal uncle is also affe cte d . A. Ichthyosis showing sp aring of the p op li-
te al fossa. B. Ichthyosis sp aring ante cub ital fossa. (Use d with p e rmission from Richard P. Usatine , MD.)
typical sparing of the exures, face, palms, and soles. The antecubi- (steroid sulfatase hydrolyses cholesterol sulfate). Steroid sulfatase
tal fossae are notably spared (Figures 171-1 and 171-4). There is activity can also be measured directly. Appropriate genetic testing.
an accentuation noted on the neck, giving these patients a charac-
teristic “dirty neck” appearance (Figure 171-5). EPIDERMO LYTIC ICHTHYO SIS
progresses to ichthyosis. Within hours after birth, minor trauma

may cause blisters, super cial erosions, and peeling. 16
areas of hyperkeratosis and signs of skin weakness at sites of minor

trauma may hint toward the diagnosis. Later in childhood, hyper-
keratosis is noticeable on exures, the abdominal wall, and scalp.
-
ria, and possibly yeast creates an unwanted body odor.
LAMELLAR ICHTHYO SIS
membrane (Figure 171-6). 12 After shedding membrane, patients

demonstrate ushing and large, rough, dark-brown scales. 17
-
FIGURE 171-5 X-linke d ichthyosis in a 9-ye ar-old b oy. His mothe r ever some patients may experience partial resolution resulting in a
state s that she could ne ve r g e t his ne ck cle an. This is the “d irty ne ck bathing suit-pattern ichthyosis.
ap p e arance ” of X-linke d ichthyosis. O f course the ne ck is not d irty—
this is the scale of ichthyosis which is also re ad ily se e n on the arms and
ab d ome n. (Use d with p e rmission from Richard P. Usatine , MD.) persist into adulthood in many patients. Nail ndings may include
PART 14
ICHTHYO SIS 985
DERMATO LO GY
FIGURE 171-7 Acq uire d ichthyosis starts in ad ulthood and is e sp e -

cially p romine nt on the le g s. (Use d with p e rmission from Richard P.
Usatine , MD.)
inherited and may be associated with some systemic disease. The

time of onset is the key to diagnosis. The legs are often are most
involved and the skin appears similar to sh-scales (Figure 171-7).
MANAGEMENT
B the mainstay of therapy. 22 There are many effective nonprescrip-

tion and prescription products that contain petrolatum, propylene
FIGURE 171-6 A. Collod ion b ab y just afte r b irth. Note the shiny
skin cove re d with a thin me mb rane and the turning out of the lip s
glycol, urea, or lactic acid. 22
(e clab ium). This b ab y also had e ve rsion of the e ye lid s (e ctrop ion). petrolatum, Aquaphor, and Eucerin. Ammonium lactate is an
B. The shiny skin is ve ry p ro mine nt on the foot. (Use d with p e rmission
from Je ffre y Me ffe rt, MD.)
12 percent prescription. SO R
ridging, subungual hyperkeratosis, or hypoplasia. Patients typically to remove scale should be applied only on a limited area, as sys-
cope with decreased sweat gland function. Bacterial and viral cuta- temic absorption has led to salicylate toxicity in some patients.
neous infections are rare, however, fungal infections are common.
Severe lamellar ichthyosis may affect growth and nutritional de -
in newborns as denuded skin, it may necessitate treatment in an
ciencies may be present, including vitamin D de ciency. Possible
intensive care unit due to increased risk of electrolyte irregularities
vitamin D de ciency imparts an increased risk of rickets. 18-20
and infectious complications. Further, patients should be handled
carefully to avoid new trauma. Symptomatic care for blistering and
use of emollients are particularly helpful in newborns. Moisturiza-
DIFFERENTIAL DIAGNO SIS tion and topical emollients continue to be the foundation of man-
agement as children age. Keratolytics may be avoided if they irri-
tate the skin. Special diet and activity restrictions are not necessary.
-
oses and typically presents with generalized dry skin (xerosis)
resulting in pruritus that manifests the infamous itch-scratch cycle lamellar ichthyosis by physicians experienced in their use (Figure
of atopic dermatitis. Repetitive scratching leads to skin thickening 171-8). These agents are strong teratogens and should be avoided
(licheni cation) and accentuation in skin markings. Notably, atopic in any female of childbearing potential (including up to 3 years
dermatitis is frequently the rst condition to present in the “atopic before menarche). SO R
march” of atopic dermatitis, food allergy, asthma, and allergic rhi-
nitis (Chapter 130, Atopic Dermatitis). 21 treatment option.
PART 14
986 CHAPTER 171
DERMATO LO GY
A B
FIGURE 171-8 A. Lame llar ichthyosis in a young b oy in Ethiop ia. B. Gre at imp rove me nt in the ichthy-
osis afte r syste mic re tinoid s (acitre tin). (Use d with p e rmissio n from Rick Hod e s, MD and Richard Lord .)
REFERRAL for and should regularly conduct self-examination for testicular

carcinoma.
corneal opacities are detected.
of heat stroke.
FO LLO W-UP PATIENT RESO URCES
www. rstskinfoundation.org.
can result from ssured skin that has been refractory to management. www.ichthyosis.com and www.ichthyosis.org.uk have
support groups and information for patients and their parents.
morbidity. Further, regular physical exams monitoring for corneal
opacities and for testicular cancer in males should be performed at that is free of charge for children with chronic skin conditions
follow-up visits. called Camp Discovery—www.campdiscovery.org.
symptoms may improve with age. PRO VIDER RESO URCES

- http:// emedicine.medscape.com/ article/ 1198130.
mended for skin assessment and treatment. Patients with ectropion
should be referred to an ophthalmologist. -
tance of Man website—www.omim.org.
PATIENT EDUCATIO N
and clinics that perform prenatal diagnostic testing for certain
conditions—www.genetests.org.
hereditary ichthyosis.
provided by the Society of Investigative Dermatology. It lists
-
contact information for various patient advocacy groups—
sistent treatment is important in achieving satisfactory management.
https:// itunes.apple.com/ us/ app/ skin-advocate/
id465525999?mt=8.
climates and in the winter. Patients should understand the need
PART 14
ICHTHYO SIS 987
DERMATO LO GY
REFERENCES 12. Prado R et al. Collodion baby: an update with a focus on practical
management. J Am Acad Dermatol. 2012;67(6):1362-1374.
ichthyoses: results of the First Ichthyosis Consensus Conference
in Soreze 2009. J Am Acad Dermatol. 2010;63(4):607-641. in two brothers. Cornea. 2000;19(6);861-863.
14. Bradshaw KD and Carr, BR. Placental sulfatase de ciency:
the laggrin mutation disease. Br J Dermatol. 2013;168(6): maternal and fetal expression of steroid sulfatase de ciency
1155-1166. . Obstet Gynecol Surv. 1986;41(7):401-
J Am Acad 413.
Dermatol. 2003;49(5):962-963. 15. Rizk DE and Johansen, KA. Placental sulfatase de ciency and
4. CraigWY, et al. Prevalence of steroid sulfatase de ciency in congenital ichthyosis with intrauterine fetal death: case report.
California according to race and ethnicity. Prenat Diagn. 2010; Am J Obstet Gynecol. 1993;168(2):570-571.
30(9):893-898. -
- atosis: a keratin 1 or 10 mutational event. Int J Dermatol. 2005;
lytic hyperkeratosis. Arch Dermatol. 1994;130(8):1026-1035. 44(1):1-6.
6. Bale, SJ and Doyle, SZ. The genetics of ichthyosis: a primer for 17. Rodriguez-Pazos L et al. Autosomal recessive congenital ichthyo-
epidemiologists. J Invest Dermatol. 1994;102(6):49S-50S. sis. Actas Dermosi liogr. 2013;104(4):270-284.
Autosomal recessive congenital ichthyosis. 18. Kothari D et al. Ichthyosis associated with rickets in two Indian
GeneReviews [Sitio en Internet]. children. Indian J Dermatol. 2013;58(3):244.
Washington, Seattle; 2001.
8. Harding CR, Aho S, and Bosko, CA. Filaggrin—revisited. Int J ichthyosis. J Postgrad Med. 2007;53(3):215-217.
Cosmet Sci. 2013. 20. Thacher TD et al. Nutritional rickets in ichthyosis and response to
9. Fernandes NF, Janniger, CK and Schwartz, RA. X-linked ichthyosis: calcipotriene. Pediatrics. 2004;114(1):e119-123.
an oculocutaneous genodermatosis. J Am Acad Dermatol. 2010;62(3): 21. Carlsten C. et al. Atopic dermatitis in a high-risk cohort: natural
480-485. history, associated allergic outcomes, and risk factors. Ann Allergy
- Asthma Immunol. 2013;110(1):24-28.
tical treatment options. Am J Clin Dermatol. 2009;10(6):351-364. 22. Hernandez-Martin A et al. A systematic review of clinical trials of
- treatments for the congenital ichthyoses, excluding ichthyosis
lecular genetics. Eur J Dermatol. 2006;16(4):349-359. vulgaris. J Am Acad Dermatol. 2013;69(4):544-549 e8.
PART 15
RHEUMATO LO GY
St re ng t h o f
(SO R) De nit io n

PART 15
990 CHAPTER 172
RHEUMATO LO GY
172 JUVENILE IDIO PATHIC

ATHRITIS
Shog hik Akog hlanian, MD
And re w Ze ft, MD MPH
PATIENT STO RY
A 2-year-old Caucasian girl has had left knee swelling for 2 months
(Figure 172-1). On physical examination, she has a warm left knee
with limited range of motion and an effusion. Her left leg is longer
than her right, and she walks with an antalgic gait. She has no other
FIGURE 172-2 Syne chiae comp licating ante rior nong ranulomatous
rate is normal. She is diagnosed with oligoarticular juvenile idio- uve itis in a child with juve nile id iop athic arthritis. (Use d with p e rmission
from Carol A. Wallace , MD.)
pathic arthritis (oligoJIA). After initially taking nonsteroidal antiin-
ammatory medication around the clock, she is given an intra-articu-
lar steroid injection to treat her synovitis followed by physical
therapy. Six weeks later, her knee exhibits full range of motion and is INTRO DUCTIO N
free of swelling. Six months later, she is found to have anterior uveitis
(Figure 172-2) on routine screening slit lamp ophthalmology exam. Juvenile Idiopathic Arthritis (JIA), the most common chronic rheu-
Her uveitis is treated with ocular steroid drops, but her eye disease matologic disease of childhood, 1 is de ned by arthritis lasting greater
remains active, and requires the disease modifying antirheumatic than 6 weeks clinically beginning in a child before their 16th birthday
drug, methotrexate. after infection or other systemic etiologies have been ruled out. JIA is
divided into 7 phenotypic subtypes which include: oligoarticular (per-
sistent, extended), polyarticular (rheumatoid factor [RF] positive),
polyarticular (RF negative), systemic onset, psoriatic, enthesitis
related, and undifferentiated. 2
SYNO NYMS
Juvenile chronic arthritis (JCA) and juvenile rheumatoid arthritis (JRA).
EPIDEMIO LO GY
European ancestry.
between 1 to 2 years of age, in contrast to polyarticular JIA, which

has a biphasic clinical onset with one peak between 1 to 3 years of
age and another late in school age and into adolescence. Systemic
onset JIA is more common in toddler-aged children, but otherwise
onset is rather equally distributed amongst ages.
-
FIGURE 172-1 Swe lling of the le ft kne e in a 2-ye ar-old g irl with olig o- oligoJIA, occurs most commonly in toddler-aged girls (F: M, 3:1)
articular JIA. (Use d with p e rmissio n from Vid ya Raman, MD.) and accounts for close to half of JIA diagnoses.
PART 15
JUVENILE IDIO PATHIC ATHRITIS 991
RHEUMATO LO GY
FIGURE 172-3 Pannus, comp ose d of mixe d lymp hocyte s and macrop hag e s (le ft), se e n afte r g ross re moval (rig ht) from a joint of a p atie nt with
active juve nile id iop athic arthritis. (Use d with p e rmission from Carol A. Wallace , MD.)
-
positive patients with either the oligoJIA or RF-negative polyarticu-
lar subtype (Figure 172-2). presentation in the pathogenesis of JIA.
-
nance of females with both oligoJIA and RF-positive polyJIA.
DIAGNO SIS
factors.
CLINICAL FEATURES2
of synovitis is diagnostic in children with JIA. Pannus is composed ~ Persistent joint swelling or effusion.
~ Presence of two or more of the following signs in one or more
accompanied by angiogenesis (Figure 172-3). joints:
I
I
-
I Increase in tactile heat.
cipitate pannus formation and cartilage/ osseus damage.
capsule, or fascia attach to bone.

RISK FACTO RS
~ Systemic onset JIA (soJIA)—Presents with systemic symptoms
- such as fever, evanescent salmon-colored rash (typically truncal
mental triggers play roles in JIA pathogenesis. and nonpruritic; Figure 172-4), lymphadenopathy, and
PART 15
992 CHAPTER 172
RHEUMATO LO GY
FIGURE 172-6 Small joint arthritis in a young child with p olyarticular

juve nile id iop athic arthritis. (Use d with p e rmission from the Cle ve land
FIGURE 172-4 Salmon-colore d , e vane sce nt, macular e rup tion in a Clinic Child re n’s Hosp ital Photo le s.)
child d iag nose d with syste mic-onse t juve nile id iop athic arthritis. (Use d
with p e rmission from Ste ve n Sp ald ing , MD.)
including symmetric arthritis disease involving wrists and small
joints of the hands and feet, with or without subcutaneous rheu-
hepatosplenomegaly with or followed by arthritis. Macrophage matoid nodules and articular erosions. Unfortunately, many
activation syndrome can be a life-threatening presentation of patients with polyJIA enter adulthood with active disease and
undertreated soJIA. require continued treatment on disease modifying or biologic
~ OligoJIA—Arthritis involving 4 or fewer joints in the rst therapy.
6 months of disease (Figures 172-1 and 172-5). OligoJIA is ~ Psoriatic JIA (psJIA)—Either the presence of:
described as persistent (or extended) if the joint involvement I Arthritis and psoriasis.
I Arthritis and 2 of 3 features including: dactylitis, nail changes
oligoJIA often remits with therapy, but risk for ares remain. ranging from mild nail pitting to onycholysis, and family his-
~ Polyarticular JIA (polyJIA)—Arthritis involving ve or more tory of a rst degree relative having psoriasis or psoriatic
- arthritis.
matism criteria into seropositive and seronegative polyarticular ~
subgroups based on the presence or absence of IgM RF (Figure enthesitis or arthritis or enthesitis with greater than or equal to
172-6). Children with seropositive polyJIA share clinical and 2 of the following: history of sacroiliac joint tenderness and/ or
immunologic features of adult patients with rheumatoid arthritis,
> 8 years of age, acute (symptomatic) anterior uveitis, or family
history in at least one rst- or second-degree relative of medi-
involves the lower extremities at tendon insertions at the poste-

rior and anterior iliac crest, femoral greater trochanter, patella,
tibial tuberosity, Achilles tendon, and/ or planter fascia.
~
other associated symptoms do not t any other JIA category or t

more than one category.
in ammation (anemia of chronic disease, thrombocytosis, elevated

ESR, as well as thrombocytopenia and dampened ESR in soJIA).
oligoJIA and seronegative polyJIA patients.
insensitive test for seropositive polyarticular arthritis. 4

FIGURE 172-5 Le ft kne e swe lling in a young child with olig oarticular
juve nile id iop athic arthritis. (Use d with p e rmission from the Cle ve land -
Clinic Child re n’s Hosp ital Photo le s.)
PART 15
JUVENILE IDIO PATHIC ATHRITIS 993
RHEUMATO LO GY
DIFFERENTIAL DIAGNO SIS include increased risk of infection (tuberculosis dissemination
- be performed prior to treatment.

cus), brucella, and viral (in uenza or parvovirus); mycoplasma,
usually more acute in onset than JIA and have speci c epidemio-
is receiving chronic steroids, methotrexate, or biologic therapy.
logic clues.
SURGERY
E. coli, salmonella, Shigella, or campylobacter) or genitourinary
-
tract infection (gonococcal)—Preceding infection or speci c symp-
tent hypertrophic synovial tissue.
toms help to differentiate these entities.
-
joints with long standing erosive arthritis, advanced secondary
mon), metastatic bone, primary bone, cartilage, synovium, or soft
osteoarthritic changes, or to correct pronounced leg length
tissue tumors can be distinguished from JIA by characteristic labo-
discrepancy due to long-standing, unilateral disease.
ratory and radiographic features.
systemic lupus erythematosis and in ammatory bowel disease— PRO GNO SIS
Should be suspected when other organ systems are involved such
adulthood.
have improved the short- and medium-term outcomes.

~
conjunction with other manifestations, such as growth delays, PATIENT RESO URCES
deafness, facial features, and heart valve abnormalities.
http:// my.clevelandclinic.org/ childrens-hospital/
health-info/ diseases-conditions/ rheumatology/
hic-Juvenile-Idiopathic-Arthritis.aspx.
MANAGEMENT
NO NPHARMACO LO GIC conditions/ orthopedic/ pages/ Juvenile-Idiopathic-
Arthritis.aspx?nfstatus= 401&nftoken=00000000-0000-
0000-0000-000000000000&nfstatusdescription=ERROR
maintain function and prevent disability.
%3a+No+local+token.
www.arthritis.org.
patients to screen for intraocular signs of anterior uveitis and in
psJIA or ERA patients, primarily for treatment of symptomatic www.rheumatology
scleritis, episcleritis. .org.
MEDICATIO NS www.printo.it/ pediatric-rheumatology/ index.htm.

-
JIA and utilized for other JIA patients with persistent disease activ- PRO VIDER RESO URCES
ity despite systemic therapy. 6,7 SO R
www.rheumatology.org/ Practice/ Clinical/
8–12
Provide symptomatic Guidelines/ Juvenile_Idiopathic_Arthritis/ .
pain relief, but do not modify disease. SO R
Induction treatment or may be kept at a
unwarranted side effects in children. SO R

REFERENCES
commonly), le unomide, or sulfasalazine. SO R Pediatr Clin
14 North Am
—Inhibit the action of proin ammatory cytokines:
~ α α ; etanercept, adalimumab, and -
in iximab). SO R for polyJIA tology classi cation of juvenile idiopathic arthritis: second revi-
~ sion, Edmonton. J Rheumatol
~
3.
~
prevalence, mortality, and comorbidity of the rheumatic diseases.
function. Arthritis Res Ther.
PART 15
994 CHAPTER 172
RHEUMATO LO GY
in patients with juvenile idiopathic arthritis. Pediatric Rheumatology for the Childhood Arthritis and Rheumatology Research
Online Journal
juvenile idiopathic arthritis. Arthritis &Rheumatism
recommendations for the treatment of juvenile idiopathic arthri-
tis: initiation and safety monitoring of therapeutic agents for the
treatment of arthritis and systemic features. Arthritis Care Res.
-
-
ment of symmetrical joints in juvenile idiopathic arthritis:
a double-blind trial. Rheumatology Arthritis &
Rheumatism
Prevention of leg length discrepancy in young children with
pauciarticular juvenile rheumatoid arthritis by treatment with
intraarticular steroids. Arthritis Rheum
rheumatoid arthritis. N Engl J Med
-
aal HM, et al. for the Pediatric Rheumatology Collaborative
et al. Adalimumab with or without methotrexate in juvenile
rheumatoid arthritis. J Pediatr rheumatoid arthritis. N Engl J Med
chronic arthritis. S Afr Med J a long-term follow-up study. Rheumatology

-
cylic acid in the treatment of pauciarticular and polyarticular ju-
venile rheumatoid arthritis: assessment of tolerance and ef cacy idiopathic arthritis. Arthritis Rheum
in a single-centre 24-week double-blind parallel study. Scand J
Rheumatol -
J Rheumatol.
rheumatoid arthritis with diclofenac sodium. Scand J Rheumatol.
- Safety and ef cacy of up to eight years of continuous etanercept

venile rheumatoid arthritis results of the double blind-trial: a seg- therapy in patients with juvenile rheumatoid arthritis. Arthritis
ment II study. J Rheumatol Rheum
PART 15
LUPUS—SYSTEMIC AND CUTANEO US 995
RHEUMATO LO GY
173 LUPUS—SYSTEMIC
AND CUTANEO US
Vid ya Raman, MD
PATIENT STO RY
months (Figures 173-1 and 173-2). She reported pain in her knees
healed. Laboratory evaluation was remarkable for a low white

× × 100/ uL),
× × 1000/ uL). Erythro-

cyte sedimentation rate was elevated at 45 mm/ hr (normal
diagnosis of systemic lupus erythematosus (SLE). Urinalysis did not

show proteinuria to suggest renal involvement. She was treated
with prednisone and hydroxychloroquine resulting in improvement
FIGURE 173-2 Ne w onse t SLE in a 16-ye ar-o ld g irl (as se e n in Fig ure
in her problems. 173-1) d e monstrating he r alop e cia. He r ANA was 1:640. (Use d with
p e rmission from Vid ya Raman, MD.)
INTRO DUCTIO N
Systemic lupus erythematosus (SLE) is a chronic in ammatory disease

that can affect many organs of the body including the skin, joints,
kidneys, lungs, nervous system, and mucus membranes.
SYNO NYMS
EPIDEMIO LO GY
there are very few studies in the pediatric population. It is believed

that approximately 15 percent of patients with SLE have onset of
100,000 white females, with higher prevalence in African Ameri-

cans and Hispanics. 1
Patients
FIGURE 173-1 Ne w onse t syste mic lup us e rythe matosus (SLE) p re -
se nting with 6 months of a facial rash and alop e cia in a 16-ye ar-old Afri-
can Ame rican g irl. She also had p ain in he r kne e s and oral ulce rs. (Use d SLE, which tends to follow a mild course. 4
with p e rmission from Vid ya Raman, MD.) slowly expand with active in ammation at the periphery, and then
PART 15
996 CHAPTER 173
RHEUMATO LO GY
to heal, leaving depressed central scars, atrophy, telangiectasias,

and hypopigmentation. 5
-
tions. Based on current understanding, an environmental exposure,
occurring in a genetically susceptible individual, results in activa-
tion of the innate and adaptive immune response resulting in pro-
duction of auto-antibodies and loss of tolerance to self antigens.
response to therapy.
immune complexes or by the direct effects of antibodies to cells.
mother has SLE, her daughter’s risk of developing the disease is
disease ares. Organ damage often progresses over time.

FIGURE 173-4 Ne onatal lup us from acq uire d antib od ie s throug h
transp lace ntal transmission from the mothe r with active SLE. (Use d with
heart block from acquired antibodies through transplacental trans- p e rmission from Warne r AM, Fre y KA, Connolly S. Annular rash on a
ne wb orn. J Fam Pract. 2006;55(2):127-129. Re p rod uce d with p e rmission
mission from mother if she has active SLE (Figures 173-3 and from Frontline Me d ical Communications.)
173-4).
RISK FACTO RS ~ Pregnancy (especially in the postpartum period).
~ Exposure to the sunlight (ultraviolet light, especially UVB). DIAGNO SIS

~ Infections.
~ Stress. CLINICAL FEATURES
diagnostic sign or marker (Table 173-1). Accurate diagnosis is

important because treatment can reduce morbidity and mortality.
including fatigue, fever, myalgia, anorexia, nausea, and weight loss.
is 5 years.
manifestations mentioned in the following are either present, seri-

ally or simultaneously, in the patient at the time of presentation or
were present in the past. Arthralgias, which are often the initial
polyarthritis is symmetric, nonerosive, and usually nondeforming.

FIGURE 173-3 Ne onatal lup us from acq uire d antib od ie s throug h
transp lace ntal transmission from the mothe r with p ositive SSA (Ro) and In longstanding disease, rheumatoid-like deformities with swan-
SSB (La) antib od ie s. (Use d with p e rmission from Vid ya Raman, MD.)
PART 15
RHEUMATO LO GY
TABLE 173-1 Ame rican Colle g e of Rhe umatolog y Crite ria for Diag nosis of Syste mic Lup us Erythe matosus 1,2
Crit e rio n De nit io n

Malar rash Fixe d e rythe ma, at or raise d , ove r the malar e mine nce s, te nd ing to sp are the nasolab ial fold s.
Discoid rash Erythe matosus raise d p atche s with ad he re nt ke ratotic scaling and follicular p lug g ing and
late r atrop hic scarring .
Photose nsitivity Skin rash as a re sult of unusual re action to sunlig ht, b y history or p hysician ob se rvation.
O ral ulce rs O ral or nasop haryng e al ulce ration, usually p ainle ss, ob se rve d b y a p hysician.
Arthritis None rosive arthritis involving 2 or more pe riphe ral joints, characte rize d by te nde rne ss, swe lling,
or e ffusion.
Se rositis Ple uritis—Convincing history of p le uritic p ain or rub he ard b y a p hysician or e vid e nce of p le u-
ral e ffusion O R p e ricard itis d ocume nte d b y EKG, rub , or e vid e nce of p e ricard ial e ffusion.
Re nal d isord e r Pe rsiste nt p rote inuria g re ate r than 0.5 g rams p e r d ay or g re ate r than 3+ if q uantitation not
p e rforme d O R re d ce ll, he mog lob in, g ranular, tub ular, or mixe d ce llular casts.
Ne urolog ic d isord e r Se izure s O R p sychosis—In the ab se nce of offe nd ing d rug s or known me tab olic d e rang e -
me nts (ure mia, ke toacid osis, or e le ctrolyte imb alance ).
Hematologic disorder He molytic ane mia with re ticulocytosis O R le ukop e nia (< 4,000/mm 3 on two or more occa-
sions) O R lymp hop e nia (< 1,500/mm 3 on two or more occasions) O R thromb ocytop e nia
(< 100,000/mm 3) in the ab se nce of offe nd ing d rug s.
Immunologic disorders Positive antip hosp holip id antib od y O R anti-DNA—Antib od y to native DNA in ab normal tite r
O R anti-Sm—Pre se nce of antib od y to Sm nucle ar antig e n O R false p ositive se rolog ic te st
for syp hilis known to b e p ositive for at le ast six months and con rme d b y Tre p one ma
p allid um immob ilization or uore sce nt tre p one mal antib od y ab sorp tion te st.
Antinucle ar antib od y An ab normal tite r of antinucle ar antib od y b y immuno uore sce nce or an e q uivale nt assay at
any p oint in time and in the ab se nce of d rug s known to b e associate d with “d rug -ind uce d
lup us” synd rome .
1
Four of the crite rion are re q uire d to make the d iag nosis.
2
Mod i e d with p e rmission from Callahan LF, Pincus T. Mortality in the rhe umatic d ise ase s. Arthritis Care Re s. 1995;8:229.
bridge of the nose sparing the nasolabial folds (Figures 173-5 reasoning are the most common features of neurologic disease in
and 173-6 lupus patients.
malar rashes may cause severe atrophy, scarring, and
hypopigmentation.
(< 4000/ mm total on two or more occasions), lymphopenia
(< 1500/ mm on two or more occasions), or thrombocytopenia
(UV) light. (< 100,000/ mm in the absence of precipitating drugs).
adherent keratotic scaling and follicular plugging. Atrophic scarring Intestinal perforation and vasculitis are important diagnoses to
may occur in older lesions. exclude.
Figures 173-6 and 173-7) can be severe and can
complaints. include retinal vasculitis.
-
rub or evidence of pleural effusion. -
effusion.
in the absence of drugs associated with “drug-induced lupus.”

- -
PART 15
998 CHAPTER 173
RHEUMATO LO GY
FIGURE 173-7 Ne crotizing ang iitis on the hand of the p atie nt in

Fig ure 173-6 with lup us. (Use d with p e rmission from Richard P.
Usatine , MD.)
but also occur on the ears, and infrequently on the upper torso.
FIGURE 173-5 Malar rash in adole scent Hisp anic girl with SLE. Note the
re lative sp aring of the nasolab ial fold . (Use d with p e rmission from the
Unive rsity of Te xas He alth Scie nce s Ce nte r, Division of De rmatolog y.) -
where. Patients with widespread involvement are more likely to
well-formed adherent scale (Figures 173-8 to 173-11). As the develop SLE.
lesion progresses, the scale often thickens and becomes adherent. -
Hypopigmentation develops in the central area and hyperpigmenta- marily affects subcutaneous fat. It usually involves the proximal
extremities, trunk, breasts, buttocks, and face (Figure 173-14).
results in atrophy and scarring. When they occur in the scalp, scar-
ring alopecia often results (Figure 173-12). If the scale on the scalp LABO RATO RY TESTING
is removed, it may leave a “carpet tack sign” from follicular plugging.
in patients who have two or more unexplained signs or symptoms
butter y (Figures 173-5 and 173-13).
FIGURE 173-6 Ne crotizing ang iitis in a Jap ane se Ame rican p atie nt FIGURE 17 3-8 Cutane o us lup us (d isco id lup us) o n the face o f this
with a se ve re lup us are . Palp ab le p urp ura was e vid e nt on b oth fe e t te e nag e Hisp anic g irl. (Use d with p e rmissio n fro m Richard P. Usatine ,
and hand s. (Use d with p e rmission from Richard P. Usatine , MD.) MD.)
PART 15
RHEUMATO LO GY
FIGURE 173-11 Discoid lup us with hyp op ig me ntation and scarring

insid e the p inna. (Use d with p e rmission from E.J. Maye aux, Jr., MD.)
FIGURE 173-9 Cutane ous lup us on the face of a 5-ye ar-old g irl. She is 10
re sp ond ing to hyd roxychloroq uine with imp rove me nt in the facial
le sions. (Use d with p e rmission from Le wis Rose , MD.)
11
FIGURE 173-12 Discoid lup us with scarring alop e cia and hyp op ig -
FIGURE 173-10 Discoid lup us with hyp e rp ig me ntation and scarring me ntation on the scalp and face . (Use d with p e rmission from E.J.
on the face of this young man. Maye aux, Jr., MD.)
PART 15
1000 CHAPTER 173
RHEUMATO LO GY
pustules without the systemic symptoms of LE, and usually involves
-
guish the diseases. However, lupus autoantibodies may produce a
FIGURE 173-13 An 18-ye ar-old g irl p re se nting with cruste d sore s on
he r nose and malar rash. This was imp e tig o ove r the malar rash from
ne w onse t SLE. Months late r she d e ve lop e d a se ve re lup us ce re b ritis.
MANAGEMENT
DIFFERENTIAL DIAGNO SIS NO NPHARMACO LO GIC
- that block both UV-A and UV-B, should be encouraged. SO R

ated with procainamide, hydralazine, isoniazid, chlorpromazine,
methyldopa, and quinidine. MEDICATIO NS
-
-
mended for arthritis, arthralgias, and myalgias. SO R
kg/ d) most commonly for skin manifestations and for musculoskel-

etal complaints that do not adequately respond to nonsteroidal anti-
SO R
-
lent) alone or with immunosuppressive agents for patients with sig-
-
festation. 14 SO R Lower doses of glucocorticoids for symptomatic
relief of severe or unresponsive musculoskeletal symptoms. In
severe, life-threatening situations, high-dose methylprednisolone
can be given for three consecutive days.
-
phamide, azathioprine, mycophenolate, or rituximab) are generally
have had an inadequate response to glucocorticoids. 15 SO R
was recently approved for therapy of mild to moderate SLE in

adults but is not yet approved in children.
antiphospholipid antibodies, require anticoagulation with warfarin
FIGURE 173-14 Lup us p rofund us showing localize d atrop hic chang e s

of the arm se cond ary to the p anniculitis. This te e nag e r also has the
lup us p rofund us on the face and othe r arm. The atrop hy has b e e n
p re se nt for more than 1 ye ar d e sp ite tre atme nt. (Use d with p e rmission antimalarials. SO R
from Richard P. Usatine , MD.) or topical retinoids, and immunosuppressive agents.
PART 15
RHEUMATO LO GY
http://
PREVENTIO N
www.womenshealth.gov/ publications/ our-
publications/ fact-sheet/ lupus.pdf.

PRO GNO SIS
overview.
benign illness to a rapidly progressive disease with organ failure and
- http://
ment and a higher mortality than adults. emedicine.medscape.com/ article/ 1065529-overview.
~
REFERENCES
~ Hypertension.
~
-
~ Young age.
J Rheumatol
~ Older age at presentation.
~ Poor socioeconomic status.
~ African American and Hispanic race, which may primarily re ect lupus erythematosus: a comparison of worldwide disease burden.
low socioeconomic status. Lupus
~ Presence of antiphospholipid antibodies.
~ Antiphospholipid syndrome. Semin Arthritis Rheum.
~ High overall disease activity.
FO LLO W-UP Ir J Med Sci

-
-
agement of lupus erythematosus. Br J Dermatol
and to coordinate care of the whole person. pathogenesis is leading to clinical advances. Nature Medicine.
PATIENT EDUCATIO N lupus erythematosus. Am Fam Physician
Arthritis
- Rheum
screen, preferably those that block both UV-A and UV-B, with a
Arthritis Rheum.
and smokers generally have more active disease, children and ado-
lescents with SLE should be counseled to avoid smoking. Have for monitoring disease activity in systemic lupus erythematosus.
patients report any signs of secondary infection in their rash, since Arthritis Rheum.
this requires antibiotic therapy (Figure 173-13).
erythematosus. Arch Dermatol
PATIENT RESO URCES lupus erythematosus: case series and literature review of the use
www.arthritis.org/ conditions- Lupus
treatments/ disease-center/ systemic-lupus- -
erythematosus-lupus-sle/ . thematosus in three ethnic groups: XVI. Association of hydroxy-
www.ncbi chloroquine use with reduced risk of damage accrual. Arthritis
.nlm.nih.gov/ pubmedhealth/ PMH0001471/ . Rheum
www.mayoclinic.com/ health/
lupus/ DS00115. the treatment of severe systemic lupus erythematosus. Lupus.
PART 15
1002 CHAPTER 173
RHEUMATO LO GY
effects of methotrexate in systemic lupus erythematosus: a double- syndrome. Rheum Dis Clin N Am
blind, randomized, placebo-controlled trial. Arthritis Rheum.
in systemic lupus erythematosus during a 10-year period: a
comparison of early and late manifestations in a cohort of 1,000
patients. Medicine
PART 15
JUVENILE DERMATO MYO SITIS 1003
RHEUMATO LO GY
174 JUVENILE
DERMATO MYO SITIS
Marg are t L. Burks, MD
PATIENT STO RY
A teenage girl presents with a new rash on her face and hands for the
past few months. In addition to going to school she works as a wait-
ress and has noted that it is harder to carry heavy trays. She also has
gum in ammation and is wondering if this could be related to every-
A
thing else. The physician notes the heliotrope rash around her eyes
(Figure 174-1) and the Gottron papules on the dorsum of her
knuckles (Figure 174-2). He considers that this may be dermatomy-
ositis and tests for proximal muscle weakness. The proximal muscles
are not found to be weak on physical exam although a subsequent
his dermatoscope to look at the nail folds and sees many dilated capil-
lary loops (Figure 174-3). On the oral examination, there is a mar-
ginal gingivitis and the dermatoscope shows a similar dilated capillary
pattern around the tooth. A diagnosis of dermatomyositis is made.
The patient was treated with prednisone and hydroxychloroquine and
improves greatly. The patient was then tapered off the prednisone
fully with no relapse.
INTRO DUCTIO N
B
Juvenile dermatomyositis is a rare, idiopathic in ammatory disease
involving the striated muscles and the skin. Similar to adult cases FIGURE 174-2 Hand involve me nt in the te e nag e r in Fig ure 174-1
of dermatomyositis, the disease is primarily characterized by with Gottron p ap ule s o ve r the ng e r joints. She has nailfold e rythe ma
and rag g e d cuticle s (Samitz sig n). (Use d with p e rmission from Richard
P. Usatine , MD.)
progressive, symmetrical, proximal muscle weakness. Dermatologic

manifestations may occur with or without muscular disease and
include the heliotrope rash (Figures 174-1, 174-4, and 174-5),
“shawl sign,” and Gottron papules over the nger joints (Figures
174-4 to 174-7). Although primarily a disease of muscle and skin,
juvenile dermatomyositis has a clear association with myocarditis,
vasculitis, calcinosis and interstitial lung disease. 1 Unlike adult derma-
tomyositis, juvenile cases are much less likely to be associated with an
underlying malignancy.
EPIDEMIO LO GY
FIGURE 174-1 Classic he liotrop e rash around the e ye s of this te e n-

ag e r ne wly d iag nose d with d e rmatomyositis. The color “he liotrop e ”
is a p ink-p urp le tint name d afte r the color of the he liotrop e owe r. As compared to adults with dermatomyositis. 1
e xp e cte d , he r he liotrop e rash is b ilate rally symme trical. This rash
re solve d with p re d nisone and hyd roxychloroq uine . (Use d with p e rmis-
PART 15
1004 CHAPTER 174
RHEUMATO LO GY
A B
FIGURE 174-3 A. Dilate d nailfold cap illary loop s visib le with d e rmos-
cop y in a te e nag e r with ne wly d iag nose d d e rmatomyositis. B. Marg inal
g ing ivitis in the same te e n with ne wly d iag nose d d e rmatomyositis.
C. She also had d ilate d cap illary loop s on the g ing ival b ord e rs of he r
te e th se e n with d e rmoscop y. The nailfold nd ing s and g ing ival nd ing s
C b oth re solve d with tre atme nt. (Use d with p e rmission from Richard P.
Usatine , MD.)
focal muscle necrosis, vasculopathy, and in ammatory cell in ltrate

are much less likely to have concomitant interstitial lung disease
-
DIAGNO SIS
nancy is not typically seen in children with dermatomyositis
(approximately 1% of cases).

~
to months.
etiology. Environmental exposure and infectious agents may play a ~
role in disease pathogenesis. 1
dehydrogenase [LDH] and aldolase).
~
symptoms in the months prior to disease onset, although no speci c irritability.

pathogen has been linked to the disease. 6 ~ Abnormal muscle biopsy with muscle necrosis or in ammatory
- in ltrate.
cle. The muscle weakness and skin manifestations are likely a result of ~
in ammatory cell in ltrate and activation and deposition of comple- dermatomyositis. The heliotrope rash (Figures 174-1, 174-4,
ment, causing lysis of endomysial capillaries and muscle ischemia. and 174-5) and Gottron papules (Figures 174-4 to 174-7) are
PART 15
RHEUMATO LO GY
FIGURE 174-5 He liotrop e rash of juve nile d e rmatomyositis around the

e ye s of this young b oy. Note the p e riorb ital and facial e d e ma. The e ry-
the ma cove rs the che e ks, chin and should e rs. He also has a skin ulce r
on the ne ck. Skin ulce rations are found in juve nile d e rmatomyositis.
(Use d with p e rmission from We inb e rg S, Prose NS, Kristal L. Color Atlas
of Pe d iatric De rmatolog y, 4th e d ition, Ne w York: McGraw-Hill, 2008.)
FIGURE 174-4 A. Juve nile d e rmatomyositis in a young g irl with the

characte ristic he liotrop e rash that is p e riorb ital and violace ous. The
p e riorb ital e d e ma and facial swe lling are also commonly se e n in juve -
nile d e rmatomyositis. B. Gottron p ap ule s on the d o rsa of the knuckle s.
(Use d with p e rmission from Eric Kraus, MD.)
considered pathognomonic. Nonpathognomonic manifestations

include malar erythema, and periungual and cuticular changes
(Figures 174-2 and 174-3). A
several limitations. The criteria do not include speci c autoantibod-

5
Figure 174-3) have shown prom-

ise in juvenile dermatomyositis as a marker for both skin and mus-
cle disease activity to guide treatment. Some authors propose add-
ing this nding to criteria for diagnosis.
CLINICAL FEATURES
Figures
174-1, 174-4, and 174-5) and scaling violaceous papular dermatitis
in a patient complaining of proximal muscle weakness points to
dermatomyositis. B
FIGURE 174-6 Juve nile d e rmatomyositis in a 5-ye ar-old b oy d e mon-

- strating A. he liotrop e rash around the e ye s. B. Calcinosis in the skin of
myositis. the ne ck. (Use d with p e rmission from Eric Kraus, MD.)
PART 15
1006 CHAPTER 174
RHEUMATO LO GY
(Figures 174-2, 174-4, 174-7, and 174-8 -

ent over the knuckles instead of or in addition to papules (Figure
174-7). The papules are much more evident upon presentation of
juvenile-onset dermatomyositis.
Figure
174-6
in in amed tissues, which can lead to functional disability.
Typically, the deposits are on the extensor surfaces of joints and
pressure points of the extremities, although they may be present
anywhere. The presence of calcinosis may be decreased if patients
are treated early and aggressively. -
ation, pain from nerve entrapment, and joint contractures.
of cases of juvenile dermatomyositis. This disease complication

presents with loss of visceral and subcutaneous fat accompanied
by increased insulin resistance and glucose intolerance.
The color “heliotrope” is a pink-purple tint named after the color of

FIGURE 174-7 Child with juve nile d e rmatomyositis and Gottron
the heliotrope ower. This color is best seen in Figure 174-1. The
p laq ue s on the d orsum of the knuckle s. (Use d with p e rmission from heliotrope rash can also be a dusky-red color as seen in Figures
John Browning , MD.) 174-4 and 174-6. This heliotrope rash is bilaterally symmetrical.
(and plaques) and abnormal nailfolds and cuticles (Figures 174-2

and 174-4, 174-7, and 174-8).
from a seat, or combing their hair. Notably the skin manifestations
may precede, follow, or present simultaneously with muscle
involvement. hyperpigmentation of the skin demonstrating a variety of shades
and associated with telangiectasias. The rash here can be scaling and
the clinician to evaluate. Signs to look for include a child not want- look psoriasiform.
ing to walk or who insists on being carried, hesitancy to stand up
off of the oor, dif culty keeping the head up after infancy, or the
“Gower sign.”1 The “Gower sign” is typically associated with mus- to seborrhea or psoriasis.
cular dystrophy but can be seen in the proximal myopathy of der- -
matomyositis (see Figure 208-1). sure. This is why so many of the skin ndings are on the face and
upper chest. However, patients rarely complain of sun sensitivity.
on liquids, voice changes, or even acute respiratory failure if mus-
cles of respiration are affected. LABO RATO RY STUDIES AND DIAGNO STIC TESTS
- -
-
denced by periungual erythema and telangiectasias (Figures 174-2 con rm the diagnosis of dermatomyositis. The following serum
and 174-3). muscle enzymes can be drawn during the acute active phase and
-
ease compared to adult cases. Telangiectasias (periungual and gingi- aspartate aminotransferase, and aldolase. Of note, it is necessary to
val) are more common in the pediatric population (Figure 174-3). 1 measure all of the aforementioned enzymes as only one of them
may be elevated.
Figure 174-5). -
Similarly, vascular disease may lead to abdominal pain, pneumatosis acteristic skin ndings and elevated muscle enzymes. If the presen-
tation is not straightforward, then muscle biopsy should be per-
or severe abdominal pain in a child with juvenile dermatomyositis formed. 5
should prompt immediate evaluation.
disease activity. This imaging can show edema in the muscle and
classically located over the knuckles and on the sides of ngers subcutaneous tissue.
PART 15
RHEUMATO LO GY
results may also re ect coexisting respiratory muscle weakness.
reported health status and cumulative organ damage.
BIO PSY
-
cle biopsy of dermatomyositis will show in ammatory cells around
intramuscular blood vessels. Atrophic muscle bers are seen around
juvenile dermatomyositis cases reveals increased destruction of capil-

laries compared to adult cases. 1 -
mine disease severity and may help with predicting the long term
impact of the disease.
distinguished from dermatomyositis by its lack of cutaneous

involvement. Dermatomyositis can also occur without muscle
involvement. This is called or
. In children, it is unknown whether this represents a
very mild muscle in ammation and whether or not these cases will
eventually progress if left untreated. 1
FIGURE 174-8 Promine nt Gottron p ap ule s in this b oy with juve nile may be mistaken for the dermatologic ndings of dermatomyositis
d e rmatomyositis. in a young b oy. Note how the e rythe matous p ap ule s
and p laq ue s are most p romine nt ove r the ng e r joints and sp are the as the cutaneous ndings may be predominantly in light-exposed
sp ace b e twe e n joints. (Use d with p e rmission from Richard P. Usatine , areas. Therefore, it is essential in the management and follow-up
MD, and from Goo d all J, Usatine RP. Skin rash and muscle we akne ss. J with patients with suspected photosensitivity reactions to inquire
Fam Pract. 2005;54(10):864-868. Re p rod uce d with p e rmissio n from
Frontline Me d ical Communications.) about muscle weakness and to look for other signs of dermatomyo-
sitis. Examination of the hands and tests for muscle enzyme eleva-
tions might help to distinguish dermatomyositis from photosensitiv-
ity reactions.
necessary to order these antibodies to make the diagnosis of der- pediatric population, although the pain in JIA is typically localized
to joints. The rash in the systemic subtype of JIA is classically
of juvenile dermatomyositis cases. described as a salmon colored, macular rash that can accompany
fever in children with JIA. This rash is characteristically distinct
dermatomyositis. This percentage is higher in African

Americans.
patients, similar to dermatomyositis. However, viral myositis will
may be differentiated from dermatomyositis with a punch biopsy. not present with the classic cutaneous ndings seen in juvenile der-
matomyositis.
associated with interstitial lung disease. Though their use is -
- tis and dermatomyositis. Although hypothyroidism can cause a der-
mopathy, it does not resemble the skin ndings of dermatomyositis.
with interstitial lung disease. All patients with proximal muscle weakness should have a screening
disease or ILD features seen on imaging may not report symptoms thyroid-stimulating hormone (TSH) to rule out hypothyroidism
of dyspnea. Some experts thus recommend the use of imaging
-
tomyositis for lung involvement, regardless of the presence or often seen in dermatomyositis. Of course eczema does not cause
absence of symptoms. muscle weakness and the erythema of eczema is classically con ned
PART 15
1008 CHAPTER 174
RHEUMATO LO GY
O RAL TREATMENT
Dermatitis). -
kg oral single daily dose with a maximum daily dose of 60 mg) sys-
steroids for dermatomyositis and other autoimmune diseases. temic corticosteroids, usually prednisone, with or without an
Therefore if muscle weakness recurs after improving, it could be immunosuppressive (“steroid-sparing”) agent. Typically in children
from the steroids not the disease. this agent is methotrexate (oral or subcutaneous).
ndings with initiation of the following medications and improve-

- normal, rash stable or improved, and physician judgment after
bamazepine.
denotes that certain signs are -
seen in both dermatomyositis and other connective tissue diseases,
such as scleroderma, rheumatoid arthritis, and lupus erythematosus.
Scleroderma and dermatomyositis are the most commonly associ- treatment with high-dose steroids, addition of an immune modula-
ated conditions and have been termed sclerodermatomyositis or tors (intravenous immunoglobulin, cyclosporine, mycophenolate
mixed connective disease. In mixed connective tissue disease, fea- mofetil, azathioprine, or biologic agent), or IV methylprednisolone
tures of systemic lupus erythematosus (SLE), scleroderma, and should be considered. SO R
-
nomenon, waxy-appearing skin, and proximal muscle weakness.
to a reexamination of the diagnosis and perhaps another muscle
biopsy.
MANAGEMENT
Given the autoimmune mechanism likely central to the disease pro- when added to prednisone in initial therapy, has been shown to
cess, treatment is geared toward the proximal muscle weakness and result in good disease control and limit the cumulative dose of ste-
skin changes using immunosuppressive or immunomodulatory ther- roid. SO R
apy. Treatment is nonspeci c as the target antigen remains elusive. 1
weekly or 15 mg/ m
should guide treatment regimens. Enzyme levels should not be used

patients should have a complete blood count with differential, liver
as a sole guide for gauging responsiveness to therapy because they fre-
and renal function panels, hepatitis, and VZV serology, a urinalysis,
quently become normal during treatment even if active disease is
present. 5 Effective therapies for the myopathy are oral corticoste-
roids, immunosuppressants, biologic agents, and/ or intravenous
immunoglobulin. Effective therapies for the skin disease are sun pro-
tection, topical corticosteroids, antimalarials, methotrexate, and/ or
immunoglobulin. Drug therapy for dermatomyositis continues to be
-
based on empirical rather than evidence-based practice because of
tion while on methotrexate of 1 mg of folic acid daily is important
lack of controlled trials.
to prevent side effects.
NO NPHARMACO LO GIC
-
and increase muscle function and strength. ferential, liver and renal function panels, and a urinalysis. This
spectrum sunscreen, protective outerwear, and limitation of sun doctors familiar with its risks and bene ts.
exposure. SO R
TO PICAL TREATMENT second line agent in the treatment of juvenile dermatomyositis but
has shown to be bene cial in the treatment of refractory disease.
SO R
blood pressure, renal function, liver function, and hematologic
should clue the clinician to potentially increasing systemic disease
parameters. Side effects may include headache, tremor, and gastro-
activity. 1 SO R
intestinal symptoms.
decrease redness and itching in the treatment of refractory skin

resistant interstitial lung disease associated with juvenile dermato-
manifestations. 1
PART 15
RHEUMATO LO GY
myositis. Initiation of cyclosporine has been recommended for rap- MALIGNANCY WO RK-UP
idly progressive interstitial lung disease. -
nancy has been well documented. Adult patients with dermatomy-
of juvenile dermatomyositis. 1 It is commonly used in chronic ositis, regardless of age, should undergo an age- and gender-rele-
in ammatory diseases as a steroid-sparing agent. Like all of the vant malignancy work-up beginning at the time of diagnosis. In
other immunosuppressive agents, azathioprine must be used cau- contrast, malignancy is very rare in cases of juvenile dermatomyosi-
tiously by physicians familiar with its risks. tis, often consisting of isolated case reports.
not recommended. 5,50

greater potency. It is effective in refractory juvenile dermatomyo-
sitis. underlying malignancy typically have additional features noted on
- physical exam, including extensive lymphadenopathy, splenomeg-
tion, is a corticosteroid-sparing agent that affects both refractory aly, or an atypical rash. The nding of these additional features on
cutaneous and muscular disease. It is considered a second line ther- exam indicates the need for further evaluation of malignancy in
apy for juvenile dermatomyositis. 1 these patients before the initiation of immunosuppressive therapy. 50
-
ease. It has been shown to be particularly bene cial for the rash of juvenile dermatomyositis were leukemias and lymphomas. 50
juvenile dermatomyositis. One report, however, note worsen-
ing of the rash and another found a higher incidence of cutaneous remains unclear, though it is possible that dermatomyositis repre-
drug reactions in patients taking hydroxychloroquine with derma- sents a paraneoplastic syndrome. Underlying changes in the
tomyositis. SO R
immune system along with the effects of immunosuppressive agents
α inhibitors, are used in treatment may play a role. 50
- -
ing and discouraging initial results prompt the need for further clini- tored for malignancy during treatment with immunosuppressive
α inhibitor, in iximab, has been used with good therapy, even if malignancy is not suspected at diagnosis or on
effect in the treatment of calcinosis in juvenile dermatomysositis. initiation of treatment. 50
-
phonates and calcium channel blockers. Some patients may require
surgical excision in areas causing chronic pain, recurrent infection, PRO GNO SIS
or debilitating functional status. 1
The mortality rate of juvenile dermatomyositis is less than 5 percent,
which is notably lower than that seen in adult cases. Despite this,
not get pregnant while on these medications and various labs need over half of patients have a chronic disease course, with continued dis-
to be followed. ease activity and need for medications two to three years after diagno-
sis. Eight percent of patients may have continued moderate to
severe disability. The median time to remission (absence of rash, no
INTRAVENO US TREATMENT active myositis, and no need for immunosuppressive agents for 6
16
-
severe disease in juvenile dermatomyositis. SO R come has been linked to delay in treatment and the initiation of low-
dose treatment. The presence of lipodystrophy and calcinosis, both
-
complications of dermatomyositis, is associated with a longer duration
nile dermatomyositis is unclear. IV methylprednisolone has not been
of active disease.
shown to be superior to oral corticosteroids in the early treatment of
after diagnosis and Gottron papules plus abnormal nailfold capillaries at
6 months after diagnosis may predict a longer time to remission. 16
cost effectiveness by decreasing the duration of disease.
(IVIG) in children are lacking. 1 IVIG may be bene cial as a steroid- FO LLO W-UP
sparing agent. -
sion reactions (nausea, vomiting, fever, or lethargy) and exposure These patients need very close and frequent follow-up to manage
to blood product. In children, this may be associated with the pres- their medications and overall care. High doses of steroids and steroid-
ence of IgA in the infusion. SO R sparing agents, such as methotrexate, have numerous potential side
- effects. These patients need to be closely followed with laboratory
tests and careful titration of the toxic medicines used for treatment.
are underway to determine its potential bene t in the treatment of weight monitoring. Speci c supplements including calcium, vitamin
juvenile dermatomyositis. D and folic acid may be added to prevent some of the side effects of
PART 15
1010 CHAPTER 174
RHEUMATO LO GY
- -
ticosteroids should also be monitored for decelerated growth, one of stitial lung disease associated with the idiopathic in ammatory
the side effects of long-term corticosteroid use.
PATIENT EDUCATIO N a case-control study.
Discuss the importance of sun protection as sun exposure does make the
population-based study.
the disease and prognosis is important as many patients may develop
understand that the medications being used have many risks along with
- population-based study.
nancy prevention is needed for females of childbearing potential while
on a number of the medications used to treat this disease.
patients with dermatomyositis or polymyositis. A population-
PATIENT RESO URCES based study.
www.myositis.org.
developments in pathogenesis, assessment and treatment.
www.rheumatology
.org/ practice/ clinical/ patients/ diseases_and_
conditions/ dermatomyositis.asp.
parts).
—www.ninds.nih.gov/
disorders/ dermatomyositis/ dermatomyositis.htm. two parts).

oratory features.
http:// emedicine
.medscape.com/ article/ 1417215. Nailfold capillary density
is importantly associated over time with muscle and skin disease
activity in juvenile dermatomyositis.
REFERENCES
-
ment of juvenile and adult dermatomyositis.
of polymyositis and dermatomyositis.
Damage extent and

predictors in adult and juvenile dermatomyositis and polymyositis
outcomes of juvenile and adult dermatomyositis. as determined with the myositis damage index.
Long-term outcome and prognostic factors of -

cular manifestations and their management.
dermatomyositis and other idiopathic in ammatory myopathies dystrophic calci cation associated with the idiopathic in amma-
of childhood. tory myopathies.
History of infection before the onset of
a multicenter cohort of children with juvenile dermatomyositis.
pathogenesis, and treatment of the idiopathic in ammatory development of dystrophic calci cation.
myopathies.
HENO CH SCHO NLEIN
PURPURA
Marg are t L. Burks, MD
A B
A.
B.
β
~
A B
FIGURE 175-2
A B
FIGURE 175-3
FIGURE 175-4
FIGURE 175-5
~
~
~
PART 15
1018 CHAPTER 176
RHEUMATO LO GY
176 PERIO DIC FEVER with etanercept, a soluble TNF-α receptor fusion protein, after
which the frequency and severity of his episodes lessen.
SYNDRO MES
Shog hik Akog hlanian, MD INTRO DUCTIO N
And re w Ze ft, MD MPH
Periodic fever syndromes refer to a class of auto-in ammatory (AI) dis-
orders characterized by spells of fever with other associated symptoms,
typically occurring with three or more episodes of unexplained fever in
PATIENT STO RY a six-month period at least seven days apart. As in the case presented, a
recurrent fever syndrome diagnosis may have a monogenetic etiology;
A 6-year-old Caucasian boy is seen by his pediatrician for a however, many cases are characterized phenotypically, 1 There is an
14-month history of fever episodes lasting up to 10 days. During expanding spectrum of genetic AI diseases including but not limited to:
these episodes, he develops a red rash, nonspeci c joint pains, and TRAPS, familial Mediterranean fever (FMF), mevalonate kinase de -
abdominal pain variably accompanied by diarrhea. Between episodes ciency (MVK), otherwise known as hyperimmunoglobulin D syndrome
he is asymptomatic. He has had serial evaluations in the primary care (HIDS), and cryopyrin associated periodic syndromes (CAPS), which
clinic and has been admitted to a children’s hospital for work up to includes three overlapping phenotypes (familial cold auto-in ammatory
rule out potential infectious, gastrointestinal, and oncologic etiolo- syndrome, Muckle-Wells syndrome, or neonatal onset multisystem
gies. The work-up is only positive for nonspeci c elevations in in ammatory disease). The disorder termed periodic fever, aphthous
in ammatory markers and a mild leukocytosis. The pediatrician sus- stomatitis, pharyngitis, cervical adenitis syndrome (PFAPA or Marshall
pects a periodic fever syndrome and refers the child to a pediatric Syndrome), is a benign condition with regular intervals of high fever
rheumatologist. During an episode of fever, the child is evaluated by which last approximately 5 days (Table 176-1).2
the pediatric rheumatologist. The only clinical nding is a rash on
the back and trunk (Figure 176-1). Work-up for a periodic fever
syndrome reveals a heterozygous missense mutation in the gene SYNO NYMS
encoding the cell surface receptor for tumor necrosis factor (TNF)
TNFRSF1A, and the diagnosis of tumor necrosis factor receptor- Periodic fever syndrome, recurrent fever syndrome, or auto-
associated periodic syndrome (TRAPS) is made. The boy is treated in ammatory disorder.
A B
FIGURE 176-1 A. Erythe mato us e rup tio n o n the b ack o f a child (a) with p e rio d ic fe ve r who was co n rme d to have tumo r ne cro sis
factor re ce p tor asso ciate d p e riod ic synd rome (TRAPS). B. A close -up vie w re ve als sp e ckle d p atche s with some are as of con ue nce ,
which is characte ristic o f this synd rome . This re se mb le s a viral e xanthe m. (Use d with p e rmissio n fro m And re w Ze ft, MD.)
PART 15
PERIO DIC FEVER SYNDRO MES 1019
RHEUMATO LO GY
TABLE 176-1 Summary of Autoin ammatory Synd rome s and

The ir Acronyms RISK FACTO RS
TRAPS—Tumor ne crosis factor re ce p tor-associate d
p e riod ic synd rome . loss (Muckle-Wells), renal failure, recurrent abdominal pain,
FMF—Familial Me d ite rrane an fe ve r. amyloidosis with or without renal failure. 4
MVK—Me valonate kinase d e cie ncy = HIDS-
hyp e rimmunog lob ulin g lob ulin D synd rome . PFAPA, close to half of patients have a positive family history of a
parent or sibling with symptoms suggestive of the disorder. 5
CAPS—Cold auto in ammatory synd rome s. Includ e s
Familial cold autoin ammatory synd rome (FCAS),
Muckle -We lls synd rome (MWS), and Ne onatal-onse t DIAGNO SIS
multisyste m in ammatory d isord e r (NO MID).
PFAPA—Periodic fever, aphthous stomatitis, pharyngitis,
or ce rvical ad e nitis synd rome . and symptoms is very important in the diagnostic evaluation.
CLINICAL FEATURES
-
culoskeletal involvement are the most common clinical signs and
EPIDEMIO LO GY symptoms of AI syndromes.
~ Familial Mediterranean Fever is characterized by symptomatic episodes
of short duration (12 to 72 hours), fever (~ 90%), and severe abdom-

most prevalent. inal pain (peritonitis) which may mimic appendicitis. Acute monoar-
thritis (typically knee or ankle) occurs in over half although chronic
presents in toddlers. TRAPS patients characteristically have an Irish arthritis may be present. Headaches may be due to aseptic meningitis.
~ Tumor necrosis factor receptor-associated periodic syndrome is
ancestral pattern.
characterized by longer episodes (often > 7 days) of fever,
or Turkish ancestry. Clinical signs of FMF typically develop by abdominal pain, erythematous rash (typically travels proximal to
10 years of age. distal), regions of myopathy (Figure 172-1), with or without
periocular swelling. Deep tissue biopsy often demonstrates a
neutrophilic fasciitis sparing the underlying musculature.
was rst described in patients from the Netherlands and is believed ~ Hyper Immunoglobulin D syndrome is characterized by cervical
more common in those from Western Europe.
lymphadenopathy (90%) and polymorphic erythematous rash
(80%, typically palms and soles; Figure 176-3). Attacks may
~ Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis

ETIO LO GY AND PATHO PHYSIO LO GY syndrome is classically characterized by periodic fevers, aphthous
stomatitis, pharyngitis, and cervical lymphadenopathy. However,
all the features are rarely present at once during the fever epi-
autoin ammatory diseases do not rely on autoreactive T lympho- sodes, making the diagnosis dif cult.
cytes or pathogenic autoantibodies.
in ammatory signaling within the innate immune system.
This disruption generates a pro-in ammatory state, often These may normalize between the attacks.
leading to a nal common pathway ending with activation -
of the in ammasome, a complex of distinct proteins, which chicine, but sequencing a mutation within the Mediterranean fever
β β (MEFV) gene is con rmative.
(Figure 176-2).
- other AI disorders, acute in ammatory markers (ESR, CRP) may
tory process through the in ammasome. remain elevated during subclinical periods.
penetrance. mevalonic kinase gene mutation is diagnostic. Elevated immuno-

globulin D (IgD) is not speci c for the diagnosis, but is commonly
inheritance is autosomal recessive. elevated in HIDS patients.
PART 15
1020 CHAPTER 176
RHEUMATO LO GY
FIGURE 176-2 The in ammasome , is a comp le x of d istinct p rote ins that whe n b roug ht tog e the r, se rve to conve rt inactive p ro-IL 1b e ta to active
IL-1 b e ta. In CAPS, FMF, and HIDS, mutations stimulate the in ammasome , re sulting in activatio n of Inte rle ukin-1β . In TRAPS, mutant tumor ne crosis
factor re ce p tor is se q ue ste re d , le ad ing to the transcrip tion of p ro-in ammatory marke rs, includ ing Inte rle ukin-1β .
Ab b re viations ke y:
TRAPS—Tumor ne crosis factor re ce p tor-associate d p e riod ic synd rome .
FMF—Familial Me d ite rrane an fe ve r.
MVK—Me valonate kinase d e cie ncy.
HIDS—Hyp e rimmunog lob ulin g lob ulin D synd rome .
CAPS—Cold auto in ammatory synd rome .
PFAPA—Pe riod ic fe ve r, ap hthous stomatitis, p haryng itis, ce rvical ad e nitis synd rome .
NF—Nucle ar factor.
ASC—Ap op tosis-associate d sp e ck-like p rote in containing a case p ase activation and re cruitme nt d omain.
TNF—Tumor ne crosis factor.
IL—Inte rle ukin.
(Re p rinte d with p e rmission, Cle ve land Clinic Ce nte r for Me d ical Art & Photog rap hy © 2012-2013. All Rig hts Re se rve d .)
-
DIFFERENTIAL DIAGNO SIS phoma, and in ammatory myo broblastic tumor (“in ammatory
pseudotumor”) should be considered, and prompt referral to a
hematologist/ oncologist may be necessary.
of fever in the pediatric population and should primarily be ruled
out. by prolonged quotidian fever (typically at symptom onset) for
Mycobacteria tuberculosis and tick-borne relapsing fever may >2 weeks, differentiating this condition from true periodic fever
present with prolonged fever and rash. History of recent syndromes. Arthritis in one or more joint, evanescent erythematosus
travel to an endemic area is critical when considering these
diagnoses.
PART 15
PERIO DIC FEVER SYNDRO MES 1021
RHEUMATO LO GY
A B
FIGURE 176-3 Polymorp hic e rup tion in a child with hyp e rimmunog lob ulin D syndrome (HIDS). A. Re ticular p atte rn on hand
and fore arm. B. Diffuse p e te chial p atte rn on the le g . (Use d with p e rmission from Sivia Lap id us, MD.)
SURGERY
fever and associated abdominal pain, bloody stool, weight loss, Tonsillectomy leads to complete resolution of PFAPA related symp-
joint or eye manifestations (see Chapter 59, In ammatory Bowel 10
Disease).
REFERRAL
MANAGEMENT -
tious diseases physician should be considered when the diagnosis of
a periodic fever syndrome is suspected.
acute episodes are often helpful.
tonsillectomy for patients with PFAPA.
MEDICATIO NS
syndromes. 6 SO R However, the adverse effects of recurrent PRO GNO SIS

steroid use is a signi cant concern.
(TNF) receptor, has variable ef cacy in treating TRAPS. 7 SO R spectrum of complications is evolving for many of the more
recently characterized disorders.
SO R
to resolution however, is variable.
severity of FMF attacks and in preventing long-term complications
(amyloidosis).6 SO R prevented with appropriate therapy (colchicine).
tolerating colchicine due to gastrointestinal-related side effects.7 SO R
symptomatic relief; otherwise, systemic corticosteroids, colchi- FO LLO W-UP

8 SO R
Fortunately, the frequency of HIDS attacks typically decreases

with age. 9 symptoms and the response to therapy is essential.
PART 15
1022 CHAPTER 176
RHEUMATO LO GY
specialists are often involved in the follow-up of these patients. associated periodic syndrome gene: epidemiological study and
lessons from eight years of genetic analysis in France. Ann Rheum
Dis
PATIENT EDUCATIO N
recurrent fevers. Ann Rheum Dis. 2012;71(10):1599-1605.
-
5. Cochard M, et al. PFAPA syndrome is not a sporadic disease.
ated features are very important.
Rheumatology (Oxford). 2010;49(10):1984-1987.
6. Ter Haar N, et al. Treatment of autoin ammatory diseases: results
is often not ascertained.
from the Eurofever Registry and a literature review. Ann Rheum
Dis.
PATIENT AND PRO VIDER RESO URCES
7. Bulua AC, et al. Ef cacy of etanercept in the tumor necrosis factor recep-
http:// my.clevelandclinic.org/ orthopaedics- tor-associated periodic syndrome: a prospective, open-label, dose-escala-
rheumatology/ diseases-conditions/ periodic- tion study. Arthritis Rheum
fever-syndrome.aspx.
www.rheumatology.org/ practice/ clinical/ patients/ mevalonate kinase deficiency. Ann Rheum Dis. 2011;70(12):
diseases_and_conditions/ pfapa.asp. 2155-2158.
http:// www.nomidalliance.org/ 9. Zemer D, et al. Colchicine in the prevention and treatment of the
index.php. amyloidosis of familial Mediterranean fever. N Engl J Med
(16):1001-1005.
www.printo.it/ pediatric-rheumatology/ information/
UK/ index.htm. familial Mediterranean fever: a randomized trial. Ann Intern Med.
http:// pedsinreview.aappublications.org/ content/
30/ 5/ e34.full.pdf+html. Long-term follow-up, clinical features,
-
noglobulinemia D syndrome. Medicine (Baltimore). 2008.87(6):
REFERENCES
-
always a sign of infection. Cleve Clin J Med. 2012;79(8):569-581. lectomy for PFAPA syndrome. Arch Otolaryngol Head Neck Surg.
.
Pediatr Infect Dis J. 1989;8(9):658-659.
PART 15
KAWASAKI DISEASE 1023
RHEUMATO LO GY
177 KAWASAKI DISEASE

PATIENT STO RY
A 13-month-old previously healthy boy was admitted to the hospital

with a 7-day history of high fever and marked irritability. Over the
past 3 days, his parents noted that he had developed a red rash over
his face, trunk, and extremities, as well as redness and cracking of
his lips. He was also noted to have swelling in his hands and feet. He
was admitted because of concern of Kawasaki disease. On physical
examination, he was irritable and ill-appearing, had a diffuse pleo-
morphic rash on his face, trunk, and extremities (Figure 177-1), FIGURE 1 7 7 -2 Cracke d , ssure d , and e rythe mato us lip s in the
13 mo nth o ld with Kawasaki d ise ase . (Use d with p e rmissio n fro m
nonpurulent conjunctivitis, cracked ssured lips (Figure 177-2), Camille Sab e lla, MD.)
a tender 2 cm-diameter lymph node in his posterior cervical area,
and swelling in his extremities (Figure 177-3). He was treated with
intravenous immune globulin and high-dose aspirin and recovered SYNO NYMS
completely. Baseline echocardiography did not reveal any coronary
artery abnormalities. Follow-up echocardiograms 2 weeks and Mucocutaneous Lymph Node Syndrome or Kawasaki Syndrome.
8 weeks after his presentation were normal.
EPIDEMIO LO GY
INTRO DUCTIO N
Kawasaki disease is an acute vasculitis that has emerged as the most less than 3 months of age and children older than 8 years of age. 1
common cause of acquired heart disease in children in the developed
world. Based on the epidemiology and clinical features of this disor-
der, an infectious etiology is considered likely, although the precise
etiology remains elusive. It is important to recognize the clinical
non-Asian countries. 2
manifestations of KD because the diagnosis is based on clinical criteria,
and because timely treatment signi cantly reduces the risk of coronary
artery disease, the most feared consequence of this disease.
FIGURE 177-1 Ple o mo rp hic rash in a 13-mo nth-o ld with Kawasaki FIGURE 177-3 Extre mity swe lling in the 13-month-old with Kawasaki
d ise ase . (Use d with p e rmissio n fro m Camille Sab e lla, MD.) d ise ase . (Use d with p e rmission from Camille Sab e lla, MD.)
PART 15
1024 CHAPTER 177
RHEUMATO LO GY
ETIO LO GY AND PATHO PHYSIO LO GY DIAGNO SIS
CLINICAL FEATURES
group affected, seasonal predilection, occurrence of epidemics)
point to an infectious etiology. ~
the classic clinical diagnostic criteria (see the following section).

in ammatory cell in ltration of blood vessels, particularly involving ~
the coronary arteries. illness, characterized by periungual desquamation, arthritis, and

thrombocytosis.
~ -
RISK FACTO RS ness have resolved until 6 to 8 weeks after the onset of the illness.
commonly affected. ~ Bilateral bulbar conjunctival injection without exudate

(Figure 177-4).
2 ~
and “strawberry tongue” (Figure 177-5).

~ -
papular, morbilliform, scarlatiniform, or erythema multiforme-
Figure 177-6).
~
~ Age younger than 1 year. periungual desquamation (Figures 177-7 to 177-9)

~ Duration of fever longer than 16 days. ~
~
Figure 177-10).
~ Anemia.
~
~ Irritability, which is often marked.
~ Hypoalbuminemia. ~ Abdominal pain.
FIGURE 177-4 Nonp urule nt conjunctivitis in a 5-ye ar-old b oy with FIGURE 177-5 “Strawb e rry” tong ue in a young b oy with Kawasaki
Kawasaki d ise ase (Use d with p e rmission from Camille Sab e lla, MD.) d ise ase . (Use d with p e rmission from Johanna Gold farb , MD.)
PART 15
RHEUMATO LO GY
FIGURE 177-6 Diffuse maculop ap ular rash in a 5-ye ar-old b oy with FIGURE 177-9 Pe riung ual d e sq uamation on d ay 10 of illne ss in this
Kawasaki d ise ase . (Use d with p e rmission from Johanna Gold farb , MD.) 9-ye ar-old child with incomp le te Kawasaki d ise ase . (Use d with p e rmis-
sio n from Blanca Gonzale z, MD.)
~ Diarrhea and vomiting.

~ Arthritis or arthralgia.
~ Meningismus.
well-known complications.
-
-
Figure 177-9).
DISTRIBUTIO N
involvement and accentuation is common.

FIGURE 177-7 Extre mity swe lling , includ ing the ankle joint, in a 6
2-ye ar-old b oy with Kawasaki d ise ase . (Use d with p e rmission from
FIGURE 177-8 Palmar swe lling and e rythe ma in a 5-ye ar-old b oy with FIGURE 177-10 Poste rior ce rvical ad e nop athy in a child with Kawasaki
Kawasaki d ise ase . (Use d with p e rmission from Camille Sab e lla, MD.) d ise ase . (Use d with p e rmission from Camille Sab e lla, MD.)
PART 15
1026 CHAPTER 177
RHEUMATO LO GY
~ Leukocytosis.
~ Anemia.
~ Markedly elevated acute phase reactants.
~ Sterile pyuria (secondary to urethritis).
~ Hepatitis (elevated serum transaminases with or without elevated
serum bilirubin).
~ Hypoalbuminemia.
~
making the diagnosis, none are diagnostic.
the period during which the diagnosis should be made. FIGURE 177-12 Transthoracic two-d ime nsional e chocard iog ram short
axis vie w showing a fusiform ane urysm (arrow) of the rig ht coronary
arte ry. (Use d with p e rmission from Athar M. Q ure shi, MD.)
IMAGING
diagnosis and repeated during the subacute phase of the illness DIFFERENTIAL DIAGNO SIS
(1 to 2 weeks after diagnosis). 7
follow-up echocardiogram should be obtained 6 to 8 weeks after childhood.

diagnosis to assure that abnormalities have not developed during
the subacute or convalescent phase of the illness.
-
form aneurysms (Figures 177-11 and 177-12), additional studies
are necessary.
suggestive of KD than other entities that cause conjunctival injec-
artery abnormalities (Figure 177-13) or for long-term follow-

up of large aneurysms (Figure 177-14
tomographs or magnetic resonance imaging may be performed
children.
children with KD (Figure 177-15). 8
FIGURE 177-13 Left coronary artery ang iog ram (late ral p rojection) in an
infant with an unusual p re sentation of Kawasaki d ise ase. The circum ex
FIGURE 177-11 Transthoracic two-dimensional echocardiogram short coronary artery is se en with three ane urysms—one fusiform aneurysm
axis view showing a saccular aneurysm (arrow) of the left anterior descend- (sup erior arrow) and two saccular ane urysms (inferior arrows). (Use d with
ing coronary artery. (Used with permission from Athar M. Qureshi, MD.) p ermission from Athar M. Q ureshi, MD.)
PART 15
RHEUMATO LO GY
-
ness/ exanthem (especially adenovirus), toxic shock syndrome, ery-
MANAGEMENT
children will develop coronary artery abnormalities.9 -

apy is to reduce the clinical symptoms and prevent the development of
coronary artery abnormalities by reducing in ammation.
MEDICATIO NS
-
onstrated to reduce the prevalence of coronary artery abnormalities
FIGURE 177-14 This rig ht coronary arte ry ang iog ram was p e rforme d SO R
in an 18-ye ar-old who had b e e n followe d for a g iant rig ht coro nary ~
arte ry ane urysm (arrow) since he was 3 ye ars old . Note the rim of calci-
cation surround ing the ane urysm and ste nosis p roximal and d istal to
the ane urysm. (Use d with p e rmission from Athar M. Q ure shi, MD.) ~
kg/ day divided every 6 hours) until the acute phase of the illness
this can help to distinguish KD from viral illnesses and scarlet fever.
after the onset of therapy provided coronary artery abnormalities
lesions are not characteristic. have not developed during the course of the illness and if the
echocardiogram at that time does not show any abnormalities.
11–13 SO R
testing can con rm the diagnosis of measles.

-
roids or in iximab. SO R
therapy does not appear to be effective and is not indicated. SOR
additional anticoagulant therapy, such as warfarin, low-molecular

weight heparin, or acute thrombolytic therapy, to prevent throm-
bosis. 7 SO R
INTERVENTIO NAL CARDIO LO GY

TREATMENT/ SURGERY
require interventions such as transluminal coronary angioplasty,

coronary atherectomy, stent implantation, coronary artery bypass
surgery, or heart transplantation.
REFERRAL
FIGURE 177-15 Hydrop s of the g allblad d er visualize d on ultrasound of
the live r and g allb lad d e r. This occurs in ab out 10 perce nt of patients with -
Kawasaki disease. (Used with p e rmission from Camille Sab ella, MD.) cardiographic studies of coronary arteries in children is mandatory.
PART 15
1028 CHAPTER 177
RHEUMATO LO GY
REFERENCES
involve a pediatric cardiologist with experience in the management 1.
of children with KD.
Pediatr Infect Dis J
PRO GNO SIS
survey. J Epidemiol.
infants less than one year of age. J Pediatr
surgical intervention and their prognosis is more guarded. J Pediatr
FO LLO W-UP Arch Dermatol
J Pediatr Ophthalmol Strabismus

assuring a good clinical response to the initial therapy.
-
cent phase is recommended as previously outlined.
Disease in theYoung, American Heart Association. Circulation.

the extent of coronary artery abnormalities.
-
cular risk assessment should be performed as some patients may
patients with Kawasaki disease. Arch Dis Child.
develop premature atherosclerotic changes.
syndrome with intravenous gamma globulin. N Engl J Med

PATIENT EDUCATIO N
infusion of gamma globulin as compared with four infusions in

any of the other features of KD should receive medical attention. the treatment of acute Kawasaki syndrome. N Engl J Med
depending on the course and complications.

Kawasaki disease. J Pediatr
PATIENT RESO URCES
www.nhlbi.nih.gov/ health/ health-topics/ topics/ kd/ -
treatment.html. Pediatr Infect Dis J
www.healthychildren.org/ English/ health-issues/ -
conditions/ heart/ pages/ Kawasaki-Disease.aspx?. ment and outcome of persistent or recurrent fever after initial
www.ncbi.nlm.nih.gov/ pubmedhealth/ PMH0001984/ . intravenous gamma globulin therapy in acute Kawasaki disease.
Arch Pediatr Adolesc Med
www.kdfoundation.org/ .

pulsed corticosteroid therapy for primary treatment of Kawasaki
disease N Engl J Med
www.cdc.gov/ kawasaki/ .
Pediatrics
Disease in the Young, American Heart Association. Circulation

PART 15
SCLERO DERMA AND MO RPHEA 1029
RHEUMATO LO GY
178 SCLERO DERMA AND INTRO DUCTIO N

MO RPHEA Scleroderma (from the Greek scleros, to harden) is a term that describes
E.J. Maye aux, Jr., MD the presence of thickened, hardened skin. It may affect only limited
Vid ya Raman, MD areas of the skin (morphea), most or all of the skin (scleroderma), or
also involve internal organs (systemic sclerosis).
EPIDEMIO LO GY
PATIENT STO RY
A 4-year-old boy presented with a one-year history of skin redness of life, but the clinical patterns seen in childhood differ somewhat
and tightening over the right upper extremity. His mother had ini- from that seen in adults.
tially noticed the lesion after applying a temporary tattoo. He com-
plained of occasional itching and pain over the area. His mother was feature are reported ranging from 4 to 253 cases per 1 million
concerned that his arm appeared to be “shrinking.” He had no prior individuals of all ages. 1
medical problems or preceding infections and his immunizations
were up-to-date. He had dif culty grasping a crayon due to involve- (localized scleroderma or LSc) which principally involves the skin,
ment of his ngers. On exam, he had a large area of skin tightening subcutaneous fascia, muscle, and bone. It is 10 times more common
extending from the right scapular region and upper arm down to the than systemic sclerosis and may include circumscribed or general-
forearm, index nger and thumb (Figure 178-1). He was referred ized morphea, bullous morphea, deep morphea, and linear morphea
to a dermatologist who performed a punch biopsy con rming a diag- (including the en coup de sabre subtype, characterized by a vertical
nosis of morphea (localized scleroderma). He was treated with topi- scar on the forehead resembling a stroke from a sword). 2
cal uticasone without bene t and referred to a pediatric rheuma-
tologist for systemic therapy with methotrexate. Serologic testing
showed a negative ANA and scleroderma antibody and he has had most common subtype was linear morphea (65%), followed by cir-
no features of systemic scleroderma. cumscribed morphea (26%), mixed subtype (15%), generalized mor-
-
3
per 1 million individuals (of any age) per year. 1 Although data are
scarce, it is estimated that childhood LSc occurs only in 1 per 1 mil-
lion. 2 LSc infrequently progresses into a systemic form and can
sometimes merge or overlap with eosinophilic fasciitis. 4
-
tive tissue disorder characterized by sclerodermic skin changes and
abnormalities of the visceral organs. Systemic sclerosis has an
annual incidence of 1 to 2 per 100,000 adults and children in the
1
for only 3 percent of all cases of systemic sclerosis. 6
three times more often in girls than in boys aged eight years or more.
-
survey. 8
death as a consequence of these diseases. 10

FIGURE 178-1 Morp he a on the arm of a 4-ye ar-old b oy. He had a larg e
are a of skin tig hte ning e xte nd ing from the rig ht scap ular re g ion and
up p e r arm d own to the ind e x ng e r and thumb . (Use d with p e rmission -
from Vid ya Raman, MD.) athy, abnormal broblast function, and autoimmune dysfunction.
PART 15
1030 CHAPTER 178
RHEUMATO LO GY
A B
FIGURE 178-2 A. Line ar morp he a on one sid e of the b row on the fore he ad , commonly known as an “e n coup d e sab re ”
le sion, me aning the b low of a sword . (Use d with p e rmission from We inb e rg SW, Prose NS, Kristal L. Color Atlas of Pe d iatric
De rmatolog y, 4th e d ition, Fig ure 17-4, Ne w York, NY: McGraw-Hill, 2008.) B. Anothe r “e n coup d e sab re ” le sion on the fore -
he ad with sig ni cant atrop hy and hyp e rp ig me ntation. (Use d with p e rmission from Richard P. Usatine , MD.)
scleroderma (morphea; Figures 178-1 to 178-3), systemic sclerosis

(Figures 178-4 to 178-7), and other scleroderma-like disorders that ~ Arthritis—19 percent.
are marked by the presence of thickened, sclerotic skin lesions. ~ Neurologic ndings—4 percent.
~ Raynaud’s phenomenon—3 percent.
prevalence and the clinical features of extracutaneous ndings in ~ Vascular ndings (vasculitic rash and deep vein thrombosis)—
patients with LSc. 11 - 2 percent.
tations in 22 percent of children. In 92 percent of the cases, the skin ~ Ocular ndings—3 percent.
~
~ Restrictive lung disease—1 percent.

~
and one patient had nephritis.
FIGURE 178-3 Panscle rotic morp hea, a rare variant of localized sclero-
derma, in a 13-ye ar-old African American male. Note the “b ound-d own”
skin with hyp op igmentation and hyp e rp igmentation that occurs with this FIGURE 178-4 Scle rod actyly with tap e ring of the ng e rs and mottle d
dise ase. (Used with permission from Vidya Raman, MD.) hyp e rp ig me ntation. (Use d with p e rmission from Je ffre y Me ffe rt, MD.)
PART 15
RHEUMATO LO GY
FIGURE 178-7 Raynaud p he nome non with se ve re ische mia le ad ing to

the ne crosis of the ng e rtip s. (Use d with p e rmission from Ricard o
Zunig a-Mo nte s, MD.)
FIGURE 178-5 Scle rod e rma showing scle rod actyly with tig ht shiny ~
skin ove r the ng e rs. (Use d with p e rmission from Eve re tt Alle n, MD.)
-
derma is Raynaud phenomenon (Figure 178-7). Raynaud phe-
by skin induration and thickening accompanied by variable tissue characteristic color changes progress from white (pallor), to blue
brosis and in ammatory in ltration in numerous visceral organs. (acrocyanosis), to nally red (reperfusion hyperemia). Raynaud
phenomenon generally precedes other disease manifestations,
adjacent tissues (limited cutaneous systemic sclerosis [LcSSc]). sometimes by years. Many patients develop progressive structural
- changes in their small blood vessels, which permanently impair
blood ow, and can result in digital ulceration or infarction. Other
hands and face. In a multicenter retrospective study of 153 children forms of vascular injury include pulmonary artery hypertension,
renal crisis, and gastric antral vascular ectasia.
duration of symptoms prior to diagnosis was 1.9 years.
percent had a family history of autoimmune disease. Findings at skin sclerosis restricted to the hands and, to a lesser extent, the face
-
~
~
which presents with Raynaud phenomenon (Figure 178-7), esoph-
63 percent. ageal dysmotility, sclerodactyly (Figures 178-4 and 178-5), telan-
~ Musculoskeletal symptoms (arthralgia, muscle weakness, and giectasias (Figure 178-6), and calcinosis cutis (Figure 178-8).
arthritis)—33 percent.
~
FIGURE 178-6 Scle rod e rma with te lang ie ctasias and d ig ital ne cro sis FIGURE 178-8 Calcinosis ove r the e lb ow in a p atie nt with CREST
of the hand s. (Use d with p e rmission from Eve re tt Alle n, MD.) synd rome . (Use d with p e rmission from Eve re tt Alle n, MD.)
PART 15
1032 CHAPTER 178
RHEUMATO LO GY
15
involvement includes pericarditis, pericardial effusion, myocardial

brosis, heart failure, myocarditis associated with myositis, con-
duction disturbances, and arrhythmias. 16
is characteristic of systemic sclerosis, and is thought to result from
recurrent vasospasm of small vessels. Arrhythmias are common and
are most caused by brosis of the conduction system.
with scleroderma, and is more common in patients with limited

cutaneous disease. It may occur in the absence of signi cant inter-
stitial lung disease, generally a late complication in adults, and is
usually progressive. Severe pulmonary arterial hypertension, some-
times with pulmonale and right-sided heart failure or thrombosis of
the pulmonary vessels may develop.
FIGURE 178-9 Scle rod e rma with mottle d hyp op ig me ntation. The skin most common. Neuropathies and central nervous system involve-
may have a salt-and -p e p p e r ap p e arance as shown he re . (Use d with
p e rmission from Ricard o Zunig a-Monte s, MD.)
ment, including headache, seizures, stroke, vascular disease, radic-
ulopathy, and myelopathy, occur.
with sclerotic skin on the chest, abdomen, or upper arms and shoul- DIAGNO SIS
Figure 178-9).
CLINICAL FEATURES
ischemic injury and brosis than those with LcSSc or morphea.
- primarily upon the presence of characteristic clinical ndings. Skin
involvement is characterized by variable thickening and hardening
common at the proximal intraphalangeal joints and elbows. Arthri- of the skin with possible involvement of the underlying tissues.
tis and myositis may occur in up to 30 percent of children, and may Skin pigmentary changes may occur, especially a salt-and-pepper
Myositis leads to muscle weakness appearance from patchy hypopigmentation (Figure 178-9). Other
and myalgia, and is associated with elevated levels of creatinine
~
~ Sclerodactyly (Figures 178-3 and 178-4).

sclerosis, although half of these patients may be asymptomatic. ~ Figures 178-6 and
- 178-10).
toms include dysphagia, choking, heartburn, cough after swallow- ~ Figures 178-6 and 178-11).
~ Figure 178-8).
re ux is more common in children and recurrent episodes of aspira-

tion may contribute to the development of interstitial lung disease.
Vascular ectasia in the stomach (often referred to as “water-melon
stomach” on endoscopy) is a common late nding, and may lead to
GI bleeding and anemia.
patients, usually presenting as dyspnea on exertion and a nonpro-

ductive cough. Fine “Velcro” rales may be heard at the lung bases
40 percent of patients with systemic sclerosis, and is more common
is increased approximately 5-fold in patients with scleroderma.
have evidence of kidney damage. 13 Some degree of proteinuria, a
hypertension are observed in as many as 50 percent of patients. 14

FIGURE 178-10 Dig ital p itting scars and loss of sub stance from ng e r
Severe renal disease develops in 10 to 15 percent of patients, most p ad s in this p atie nt with scle rod e rma and scle rod actyly. (Use d with
PART 15
RHEUMATO LO GY
A positive ANA was found in 42 per-

cent of a large series of children with localized scleroderma, however,
there was no correlation between the presence of ANA and disease
course in this patient population. 3 Anticentromere antibodies are
-
bodies are highly speci c for both systemic sclerosis, and related inter-
stitial lung and renal disease.18 Although not very sensitive, anti-RNA
polymerases I and III antibodies are speci c for systemic sclerosis.
Other testing for speci c organ dysfunction is routinely done.
antibodies is supportive of the diagnosis of systemic sclerosis.
FIGURE 178-11 Te lang ie ctasias on the hand s of this p atie nt with

CREST synd rome . (Use d with p e rmission from Richard P. Usatine , MD.)
appropriately evaluated for cardiac disease.
IMAGING
the presence of typical skin thickening and hardening con ned to

one area, with absence of internal organ involvement (Figures
178-1 and 178-2
by the presence of typical skin thickening and hardening (sclerosis) -
that is not con ned to one area (i.e., not localized scleroderma)
be indicated for further evaluation of active pulmonary disease.
plus one or more of the typical systemic features supports the BIO PSY
diagnosis of systemic sclerosis.
when the clinical diagnosis is not clear and to rule out other condi-
- tions such as eosinophilic fasciitis.
lesion involves the face or scalp, it is referred to as “en coup de

with associated unequal growth and disabilities.
- as Raynaud phenomenon, renal failure, and gastroesophageal re ux
disease.
In a
-
toms and a typical rash that may be scarring. ANA testing with
lupus-speci c antibodies usually helps establish the diagnosis
~ -
lesion that eventually scar. Biopsy usually makes the diagnosis (see
~ Skin—Sclerodactyly.
~ Vascular—Raynaud phenomenon, nailfold capillary abnormalities,
or digital tip ulcers.
~
~ Renal—Renal crisis or new onset arterial hypertension.

~
~ can resemble morphea. Although it most commonly affects the

diffusion capacity, or pulmonary hypertension. genital (Figure 178-12) and perianal area, it can occur on the
~ -
~ Neurological—Neuropathy or carpal tunnel syndrome. phic but a thin cigarette-paper crinkling appearance may help
~ to differentiate it from morphea. A punch biopsy will lead to
selective autoantibodies. the correct diagnosis.
PART 15
1034 CHAPTER 178
RHEUMATO LO GY
or prevent contractures. Splints may be required for an extended

period of time.
MEDICATIO NS
1)
and
histamine 2 (H2) blockers, oral doxepin, and low-dose oral gluco-
corticoids may be used to treat pruritus. SO R
clobetasol and topical calcipotriol. 21,22 SO R
2
as a single oral or subcutaneous dose per week for
at least one year—maximum dose 25 mg per week). 23 SOR
consecutive days monthly) during the rst two to three months of

therapy may be helpful for those with rapidly progressive disease.
methotrexate has been used successfully in adults and larger adoles-

cents for localized scleroderma. 24 SO R Methotrexate can be
the long-term goal is to taper the prednisone while using the oral
methotrexate as a steroid-sparing agent.
FIGURE 178-12 Liche n scle rosus of the vulva of a 4-ye ar-old g irl, which
can b e confuse d with morp he a or a chronic cand id a infe ction. Affe cte d
g irls may comp lain of vulvar itching , sore ne ss, or p ainful urination. How-
e ve r, the d e g re e of d iscomfort may not b e p rop ortional to the amount and topical nitrates may help symptoms of Raynaud phenome-
of d ise ase p re se nt. (Use d with p e rmission from Richard P. Usatine , MD.)
non. 25,26 SO R
nicotine, caffeine, and sympathomimetic decongestant medica-
tions. Acid-reducing agents may be used empirically for gastro-
skin. Skin biopsy reveals amyloid in ltration. Biopsy usually makes
may be useful for patients with esophageal hypomotility. SOR
the diagnosis.
-
the rst-line agent. SOR Hemodialysis or peritoneal dialysis may

be used as needed.
systemic sclerosis being tested include the endothelin receptor

MANAGEMENT
NO NPHARMACO LO GIC and various prostacyclin analogs (e.g., epoprostenol, treprostinil,
19 SO R
cyclophosphamide. SO R
with LSc. SOR Regular physical therapy maintains functional day. However, several studies have suggested that use of steroids in
ability, muscle strength, and joint movement while preventing ex- scleroderma is associated with a higher risk of scleroderma renal
crisis and therefore, patients on steroids should have close monitor-
parents to improve dermal elasticity. Attention to positive joint ing of blood pressure and renal function. SOR Arthralgias can be
alignment and muscle development is important in linear sclero- SO R
derma. SOR
REFERRAL
with laser therapy.
as this is a complicated disease that requires the use of toxic medica-
only after the active phase of the disease has abated and the child’s
growth is complete. 20 SOR may also need referral to pulmonology, cardiology, and nephrology.
PART 15
RHEUMATO LO GY
PATIENT RESO URCES

Handout on Localized
Scleroderma—www.niams.nih.gov/ Health_Info/
Scleroderma/ default.asp.
www
.afstore.org/ Products-By-Topic/ Other-Diseases/
SCLERODERMA-FREE-PDF.
Scleroderma—www.hopkinsscleroderma.org/ patients/
living-scleroderma/ .
http:// www.cchs
.net/ health/ health-info/ docs/ 1600/ 1679.asp?index=
4910.

FIGURE 178-13 Localize d morp he a of the le g in this young g irl.
Althoug h he r d ise ase is not syste mic, the tig hte ning of the skin around
the kne e d oe s cause p rob le ms with kne e move me nt and amb ulation. Handout on Health: Scleroderma—
(Use d with p e rmission from Richard P. Usatine , MD.) www.niams.nih.gov/ Health_Info/ Scleroderma/
default.asp.
http:// emedicine
PRO GNO SIS .medscape.com/ article/ 331864.
REFERENCES
-
opathy is a leading cause of early death, especially in children. 28
prevalence of arthritis and selected musculoskeletal disorders in
Arthritis Rheum.
Although the appearance may be disturbing to the patient it is not
life-threatening. If the morphea is extensive and over an extremity,
it can affect function (Figure 178-13). (localized scleroderma). Mayo Clin Proc
-
FO LLO W-UP An international study. Rheumatology (Oxford)
into systemic sclerosis. J Rheumatol

every 3 to 6 months to monitor disease activity and progression.
childhood. Arthritis Rheum
PATIENT EDUCATIO N
children. Arthritis Rheum
-
ngers), cold exposure, and smoking. Make patients aware of
potential complications and have them watch for signs of systemic international database. Arthritis Rheum
disease occurrence or progression.
therapy will help maintain functional ability, muscle strength, and Arthritis Care Res (Hoboken).
joint movement while preventing exion contractures. It should be
performed consistently since irregular regimens will be less effective. Semin Arthritis
- Rheum.
olin or water-soluble cream as an emollient may minimize this effect. -
pertension and severe pulmonary brosis in systemic sclerosis patients
with a nucleolar antibody. JRheumatol.
children are also susceptible to hyperpigmentation from sunlight -
and have dif culty in dissipating heat through sclerotic skin. hood is not just a skin disease. Arthritis Rheum.
PART 15
1036 CHAPTER 178
RHEUMATO LO GY
methotrexate in the treatment of widespread morphea. J Am Acad

Br J Rheumatol. 1989; Dermatol.
-
J Am Acad Dermatol. 1998;
table analysis of clinical and demographic factors in 358 male
J Chronic Dis.
Arch Dermatol. placebo-controlled trial. Arthritis Rheum
sclerosis. Semin Arthritis Rheum. corticosteroids combined with low-dose methotrexate in severe
localized scleroderma. Arch Dermatol.
systemic sclerosis. Ann Rheum Dis.
for Raynaud’s phenomenon in systemic sclerosis. Arthritis Rheum.
League against Rheumatism provisional classi cation criteria for -

juvenile systemic sclerosis. Arthritis Rheum Br Med J.
1031-1034.
-
bodies. Arthritis Rheum. versus placebo in scleroderma lung disease. N Engl J Med. 2006;
-
J Am Acad -
Dermatol. ment in children with systemic sclerosis and myositis. J Rheumatol.
depressed scars of the forehead secondary to trauma and morphea

en coup de sabre by en bloc autologous dermal fat graft. Dermatol
Surg.
PART 16
PART 16
1038
INFECTIO US DISEASES
GASTRO INTESTINAL EPIDEMIO LO GY

INECTIO NS (INCLUDING
DIARRHEA)
Shigella spp Escherichia coli
PATIENT STO RY Salmonella spp Campylobacter spp E coli
E coli Salmonella Campylobacter Shigella
Salmonella
Shigella sonnei
Campylobacter
INTRO DUCTIO N Salmonella E coli Shigella
Yersinia
Clostridium dif cile.
Shig e lla Use d with

p e rmission from CDC Pub lic He alth Imag e Lib rary
PART 16
GASTRO INTESTINAL INECTIO NS (INCLUDING DIARRHEA) 1039
C. dif cile
RISK FACTO RS
Salmonella
DIAGNO SIS
Shigella
Yersinia
Salmonella
MANAGEMENT
~ Salmonella Campylobacter
Yersinia
~ Campylobacter jejuni
~ Shigella Salmonella Yersinia
Campylobacter
~
E coli
~ Shigella
E coli
Shigella
Lactobacillus rhamnosus
SOR
Campylobacter
Salmonella Shigella Yersinia E coli
~
~
PART 16
Enterob ius vermicularis

Ente rob ius ve rmicularis
Used with pe rmission from Use d with
James L. Fishback, MD p e rmission from the Atlas of Eme rg e ncy Me d icine and Lawre nce
E. He iske ll, MD
~ Strongyloides stercoralis
~ Trichuris trichiura
INTRO DUCTIO N
Taenia solium
~ T. solium
Giardia lamblia, Cryptosporidium species Entamoeba histolytica.
EPIDEMIO LO GY
Ascaris Strongyloides
~ E. vermicularis
~ Necator americanus
Ancylostoma duodenale
~ Ascaris lumbricoides
Ne cator ame ricanus
Use d with p e rmission from Jame s L. Fishb ack, MD

PART 16
1042
Use d
with p e rmission fro m Ce nte rs for Dise ase Control and Pre ve ntion
Strong yloid e s ste rcoralis

Use d with p e rmission from Jame s L. Fishb ack, MD
~ G. lamblia (Giardia intestinalis)
~ Cryptosporidium hominis C parvum
Ascaris lumb ricoid e s

Use d with p e rmission from Jame s L. Fishb ack,
MD
Ascaris lumbricoides
Used with permission from Trichuris trichiura Use d with
James L. Fishback, MD p e rmission from Jame s L. Fishb ack, MD
PART 16
~ T. trichiura
~ — T. solium
Diphyllobothrium latum
~ G. lamblia
~ E. histolytica
Giard ia lamb lia RISK FACTO RS

Use d with p e rmission from Tom
Moore , MD
~ E. histolytica

DIAGNO SIS
~ E. vermicularis
~ E. vermicularis —
~ N. americanus
~ N. americanus —
~ A. lumbricoides ~ A. lumbricoides
Ascaris
~ S. stercoralis
~ S. stercoralis
~ T. trichiura
PART 16
1044
~ T. solium DIFFERENTIAL DIAGNO SIS
~
~ G. lamblia
~
~
~ E. histolytica
MANAGEMENT
~ E. vermicularis
The Medical Letter
~ E. vermicularis
~ N. americanus
~ A. lumbricoides ~ N. americanus
~ S. stercoralis
~ A. lumbricoides
~ T. trichiura ~ S. stercoralis
~ T. trichiura
~ T. solium
~ T. solium
~ G. lamblia
~ G. lamblia
~ E. histolytica
~ E. histolytica
~ T. solium
PART 16
PREVENTIO N MMWR
Pediatrics
Red Book:
2012 Report of the Committee on Infectious Diseases.
PRO GNO SIS

Red
Book: 2012 Report of the Committee on Infectious Diseases.
FO LLO W-UP Red Book:

2012 Report of the Committee on Infectious Diseases.
Red Book:
PATIENT EDUCATIO N 2012 Report of the Committee on Infectious Diseases.
American Academy of Pediatrics
Parasites
PART 16
1046 CHAPTER 180
180 GO NO CO CCAL EPIDEMIO LO GY

INFECTIO NS
He id i Chumle y, MD 248.6 and 556.5 per 100,000 persons in the US in 2011. In 2011,
Richard P. Usatine , MD gonorrhea rates remained highest among black men and women
(427.3), which was 17 times the rate among whites (25.2 per
100,000 population). The rates among Hispanics (53.8) was 2.1
times those of whites. 1
PATIENT STO RY
A 17-year-old male presents to his pediatrician with 3 days of dysuria ETIO LO GY AND PATHO PHYSIO LO GY
and penile discharge. A heavy purulent urethral discharge is seen
(Figure 180-1). He has been sexually active with four female part- Neisseria gonorrhoeae is a gram-negative cocci.
ners. He was diagnosed with gonococcal urethritis by clinical appear-
ance and a urine specimen was sent for testing to con rm the gonor- period of 2 to 7 days.
rhea and test for Chlamydia. He was treated with Ceftriaxone 250 mg
IM for gonorrhea and 1 g of oral azithromycin for possible coexisting typically developing within 10 days of exposure.
Chlamydia. He was offered and agreed to testing for other sexually
transmitted diseases. He was told to inform his partners of the diag-
due to lack of estrogen effect on the vaginal mucosa.
nosis. He was counseled about safe sex. On his 1-week follow-up
visit, his symptoms were gone and he had no further discharge. His
gonorrhea nucleic acid ampli cation test was positive and his Chla-
mydia, rapid plasma reagin (RPR), and HIV tests were negative. His Chapter 72, Neonatal Conjunctivitis).
case was reported to the Health Department for contact tracing.
by skin lesions.
INTRO DUCTIO N
Infections with Neisseria gonorrhoeae are the second most commonly DIAGNO SIS
reported sexually transmitted disease in the US. Gonorrhea
can cause cervicitis, urethritis, proctitis, and conjunctivitis. Untreated CLINICAL FEATURES
infections can lead to pelvic in ammatory disease, increasing the risk Male patients with urethritis can be asymptomatic or present with
for infertility, ectopic pregnancy and chronic pelvic pain. Exposed urethral discharge, dysuria, or urethral pruritus.
newborns can develop ophthalmia neonatorum. Diagnosis is suspected Urethritis is diagnosed when one of the following is present:2
clinically and con rmed by a urine nucleic acid ampli cation test. Treat Figures 180-1 and
for both gonorrhea and Chlamydia until one or both are ruled out by 180-2).
laboratory testing.
FIGURE 180-2 Nong o no co ccal ure thritis cause d b y Chlamyd ia. Note
FIGURE 180-1 A 17-ye ar-old with g onococcal ure thritis and a he avy the d ischarg e is cle are r and le ss p urule nt than se e n with g onorrhe a.
p urule nt ure thral d ischarg e . (Use d with p e rmission from Richard P. (Use d with p e rmission from Se attle STD/HIV Pre ve ntion Training
Usatine , MD.) Ce nte r, Unive rsity of Washing ton.)
PART 16
GO NO CO CCAL INFECTIO NS 1047
FIGURE 180-3 Normal ap p e aring ce rvix in a p atie nt with a mild white

vag inal d ischarg e and p rove n g onorrhe a and Chlamyd ia. During this
visit whe n the liq uid -b ase d Pap te st was p e rforme d the sp e cime n was
also se nt for g onorrhe a and chlamyd ia and found to b e p ositive . She
was e nrolle d in a re sid e ntial d rug re hab ilitation p rog ram and had a his-
tory of unp rote cte d se x with multip le p artne rs. (Use d with p e rmissio n
≥10 white blood FIGURE 180-4 Thick mucop urule nt d ischarg e from the ce rvix infe cte d
cells (WBCs) per high-power eld. (This can also be seen with a with g onorrhe a. (Use d with p e rmission from Se attle STD/HIV Pre ve ntion
urinary tract infection [UTI]; however, the incidence of UTI in Training Ce nte r, Unive rsity of Washing ton. http ://d e p ts.washing to n.
e d u/hand b ook/g alle ry/ind e x.html imag e 7-6.)
men younger than 50 years of age is approximately 50 per 100,000
per year, much lower than the incidence of gonococcal or chlamyd-
ial urethritis in this age group.)
such as scant discharge or dysuria, or present with mucopurulent
vaginal discharge (Figures 180-3 and 180-4). Dysuria in males can be caused by the following:7
LABO RATO RY TESTING with perineal pain or prostate tenderness, or epididymitis with
scrotal pain.
for screening asymptomatic at-risk adolescent boys and testing
symptomatic adolescent boys. 2 Urine is a better specimen than ure- chancroid, or lymphogranuloma venereum, and glans irritation
thral swab and does not hurt. 2,3 from balanitis.
equivalent to clinician collected endocervical swabs. 4 (BPH) causing in ammation without infection, trauma including
≥5 WBC per oil immer- catheterization, urethral strictures, or genitourinary cancers.
sion eld. (If Gram-negative intracellular diplococci are seen,
gonococcal urethritis is present.) Gram stain will identify most or autoimmune diseases.
cases; ≥5 WBCs are seen in 82 percent of Chlamydia -
Vaginal discharge is also commonly caused by Chlamydia, Tricho-
cent of gonococcal infections. 5 Government regulations concern-
monas, or candidiasis. Co-infection with gonorrhea should be ruled
ing in-of ce laboratory testing have severely curtailed the use of
out with any sexually transmitted infection causing vaginal discharge.
Gram stains in the of ce.
-
dictive value (NPV) but poor positive predictive value (PPV) in a MANAGEMENT
6
Ure-
thral culture is less commonly necessary when NAAT is available. When clinical suspicion is high, treat male and female patients empir-
Chlamydia are nega- ically for both N. gonorrhoeae and C. trachomatis until results are avail-
tive, or symptoms persist despite adequate treatment in a patient able. In males, treat patients who meet criteria for urethritis. Test
who is unlikely to have been reinfected by an untreated partner. patients with dysuria who do not meet criteria for urethritis, for
PART 16
1048 CHAPTER 180
N. gonorrhoeae and C. trachomatis, and treat if positive. Advise sex

partners to be evaluated and treated. 1 by the CDC for gonorrhea infections unless therapeutic compliance
is in question, symptoms persist, or reinfection is suspected. 8,10
MEDICATIO NS
of gonorrhea should be evaluated by culture for N. gonorrhoeae,
uncomplicated gonococcal urethritis or cervicitis with ceftriaxone 250 and any gonococci isolated should be tested for antimicrobial
mg IM in a single dose plus treatment for Chlamydia with azithromycin susceptibility. 8
or doxycycline. Most gonococci in the US are susceptible to doxycy-
cline and azithromycin, so that routine co-treatment might also hinder
the development of antimicrobial-resistant N. gonorrhoeae.8 Avoid uo- PATIENT EDUCATIO N
roquinolones and oral ce xime as drug resistance is too high. SOR
The Centers for Disease Control and Prevention (CDC) recommends
Chlamydia urethritis or cervicitis with azithromycin 1 g orally in a the following for patients diagnosed with gonorrhea:1
single dose or doxycycline 100 mg orally twice a day for 7 days. 10
SO R Acceptable alternate regimens include:
~ Erythromycin base 500 mg 4 times a day for 7 days or erythro-
therapy is completed.
mycin ethylsuccinate 800 mg 4 times a day for 7 days or o oxa-
cin 300 mg orally twice a day for 7 days or levo oxacin 500 mg symptoms have resolved, and sexual partners have been adequately
orally once daily for 7 days. 10 treated.
Trichomonas vaginalis
-
nidazole 2 g. medications directly to them using EPT.
medications or prescriptions by persons infected with a sexually PATIENT RESO URCES

transmitted disease (STD) to their sex partners without clinical
www.cdc
assessment of the partners. Legal status by state is available at
.gov/ std/ Gonorrhea/ STDFact-gonorrhea.htm.
www.cdc.gov/ std/ ept/ legal/ default.htm.
PREVENTIO N
has the latest epidemiologic data and management recommen-
www.cdc.gov/ std/ default.htm.
www.cdc.gov/
std/ treatment.
~ Screen asymptomatic sexually active adolescent females for gon-
orrhea. SO R
~ There is insuf cient evidence to recommend screening asymp-
tomatic sexually active adolescent males for gonorrhea. SO R http://
depts.washington.edu/ handbook/ index.html.
an STI.
SO R
REFERENCES
1. U.S. Centers for Disease Control and Prevention. http:// www.
PRO GNO SIS cdc.gov/ std/ stats10/ chlamydia.htm, accessed September 2,
2012.
Gonococcal and chlamydial urethritis and cervicitis respond well to 2. Brill JR. Diagnosis and treatment of urethritis in men. Am Fam
appropriate antibiotic therapy. Partners must be treated to avoid Physician. 2010;81(7):873-878.
reinfection. 3. Sugunendran H, Birley HD, Mallinson H, et al. Comparison of
urine, rst and second endourethral swabs for PCR based detection
of genital Chlamydia trachomatis infection in male patients. Sex
FO LLO W-UP Transm Infect. 2001;77(6):423-426.
4. Stewart CM, Schoeman SA, Booth RA, et al. Assessment of self
taken swabs versus clinician taken swab cultures for diagnosing
treatment. Reexamine for evidence of urethral or cervical in am- gonorrhea in women: single centre, diagnostic accuracy study.
mation and retest for gonorrhea and Chlamydia. BMJ. 2012;345:e8107.
PART 16
GO NO CO CCAL INFECTIO NS 1049
5. Geisler WM, Yu S, Hook EW III. Chlamydial and gonococcal in- -

fection in men without polymorphonuclear leukocytes on Gram lines, 2010: Oral Cephalosporins No Longer a RecommendedTreat-
stain: implications for diagnostic approach and management. Sex ment for Gonococcal Infections. MMWR.
Transm Dis. 2005;32(10):630-634. http:// www.cdc.gov/ mmwr/ preview/ mmwrhtml/ mm6131a3.
htm?s_cid= mm6131a3_w, accessed September 2, 2012.
testing in the age of nucleic acid ampli cation. Sex Transm Dis. 10. Centers for Disease Control and Prevention (CDC). Sexually
Transmitted Diseases Treatment Guidelines, 2010: Chlamydial Infec-
7. Bremnor J, Sadovsky R. Evaluation of dysuria in adults. Am Fam tions. http:// www.cdc.gov/ std/ treatment/ 2010/ chlamydial-
Physician. infections.htm, accessed September 2, 2012.
8. Centers for Disease Control and Prevention (CDC). Sexually
Transmitted Diseases Treatment Guidelines, 2010: Gonococcal-infections.
http:// www.cdc.gov/ std/ treatment/ 2010/ gonococcal-infections.
htm, accessed September 2, 2012.
SYPHILIS
T. pallidum
T. pallidum
Treponema pallidum
T. pallidum
SYPHILIS
A B
A B
C
A B
C
~
~
Haemophilus ducreyi
A B
SYPHILIS
Sexually Transmitted Diseases Treatment Guidelines

Sexually
Transmitted Diseases Surveillance.
Sexually
Transmitted Diseases.
Sex Transm Dis.
MMWR Morb Mortal Wkly

Rep.
Sexually
Sexually
Transmitted Diseases Treatment Guidelines, 2010: Diseases Characterized
Transmitted Diseases (STDs): Syphilis–CDC Fact Sheet
by Genital, Anal, or Perianal Ulcers
Sexually Trans-
mitted Diseases Treatment Guidelines
PEDIATRIC HUMAN IMMUNO DEFICIENCY PART 16
VIRUS (HIV) INFECTIO N 1057
182 PEDIATRIC HUMAN

IMMUNO DEFICIENCY
VIRUS (HIV) INFECTIO N
Re b e cca Sche in, MD
PATIENT STO RIES
A 6-month-old girl is seen by her pediatrician for because her mother

is concerned about a white coating on the infant’s tongue and poor
feeding. On exam, the child appears cachectic and has thrush visible
throughout her oropharynx (Figure 182-1). Palpable cervical and
axillary lymph nodes are noted as well. A human immunode ciency
virus (HIV) antibody test is obtained and is positive. Diagnosis is
con rmed with a HIV DNA polymerase chain reaction (PCR). The
mother of the baby also tests positive for HIV. The child is treated
with antiretroviral (ARV) therapy and improves with treatment.
A 15-year-old male presents to a community clinic with penile dis-
charge and anal itching due to anal warts (Figure 182-2). On further
questioning, he admits to being homeless. He supports himself through
commercial sex work, mainly with male partners. A urine nucleic acid
test is positive for chlamydia and the oral rapid HIV antibody test is pos- FIGURE 18 2-2 Anal warts (co nd ylo ma) cause d b y Human Pap illo ma
itive as well. Diagnosis of HIV is con rmed viaWestern Blot testing. Virus in an ad o le sce nt male with HIV infe ctio n and a histo ry o f anal
re ce p tive inte rcourse . (Use d with p e rmissio n from Richard P. Usatine ,
MD.)
INTRO DUCTIO N
EPIDEMIO LO GY
HIV is a retrovirus that causes disseminated infection resulting in
suppression of T-cell mediated immunity and development of
opportunistic infections.
marrow, and genital tract cells.
SYNO NYMS
membrane exposure to blood or breast milk, and mother to child
Acquired Immunode ciency Syndrome (AIDS) refers to clinical transmission.
syndrome seen with advanced disease. 1
is approximately 30 percent; with current therapy this risk is now
primary maternal infection during pregnancy, and breast feeding all

increase transmission risk. 3
encounter with highest risk from receptive anal sex. 4
Retroviridae.
disease and is found predominantly in West Africa.

-
porate into host cell genome.
FIGURE 182-1 O ral thrush in an infant with human immunod e cie ncy
virus (HIV) infe ctio n. (Use d with p e rmission from David Effron, MD.) assembly, and release viral particles are encoded in the viral
PART 16
1058 CHAPTER 182
FIGURE 182-3 Mod e l of HIV viral re p lication. (Use d with p e rmission from Cle ve land Clinic Ce nte r for Me d ical Art & Photog rap hy © 2014. All
Rig hts Re se rve d .)
genome including Reverse Transcriptase, Integrase, and Protease bacterial disease, cryptosporidium, Pneumocystic jirovecii
Figure 182-3). See Diagram. (Figure 182-9), and toxoplasmosis. 5
common childhood infections (Figures 182-10 and 182-11).

RISK FACTO RS
the differential diagnosis (Figure 182-12).

genital ulcers or concomitant sexually transmitted diseases, intra-
venous drug use, maternal HIV, contaminated blood transfusion,
DIAGNO SIS
CLINICAL FEATURES
to thrive, recurrent oral thrush, persistent diarrhea, interstitial

pneumonia, invasive bacterial infection, and/ or other opportunistic
infection (OI).
-
cosis (Figure 182-4), disseminated endemic fungal infection,
cytomegalovirus (Figure 182-5), chronic herpes simplex (Figure
182-6), progressive multifocal leukoencephalopathy caused by
FIGURE 182-4 Cryp tococcus ne oformans in ce re b ral sp inal uid as
JC virus (Figure 182-7), Kaposi’s sarcoma caused by HHV 8 se e n on Ind ia ink stain, in a p atie nt infe cte d with HIV. (Use d with
(Figure 182-8), Mycobacterium avium-intracellulare, other myco- p e rmission from Re b e cca Sche in, MD.)
FIGURE 182-5 Cytomegalovirus infection of lung re sulting in nucleated

g iant ce lls se e n on microscop ic vie w of a p atie nt with HIV infe ction.
(Use d with p e rmission from Re b e cca Sche in, MD.)

FIGURE 182-7 Pro g re ssive multifocal le ukoe nce p halop athy (PML) on
MRI imag e of the b rain of a te e nag e g irl with p e rinatal HIV infe ction
~ Diagnosis in this age group is via HIV DNA PCR because passively who d id not take he r me d ications. She p asse d away soon afte r this MRI
acquired maternal antibodies can persist until 18 months of age. was take n. (Use d with p e rmission from Jame s Homans, MD.)
infection. 6
MANAGEMENT
~
Rapid testing is available and may be performed on blood or -

saliva. Con rmation of positive antibody testing is via Western rent recommendations can be found on the National Institutes of
blot. 1
~
screening for HIV of all persons 15 to 65 years of age. -
collaboration with experts in pediatric and adolescent HIV care is

recommended.
regardless of CD4 count. Therapy requires a multidisciplinary
FIGURE 182-6 He rp e s simp le x skin infe ction in an immunocomp ro- FIGURE 182-8 Kap osi sarcoma in a young ad ult with HIV infe ction.
mise d child with HIV. (Use d with p e rmissio n from Be rnard Portnoy, MD.) (Use d with p e rmission from David Effron, MD.)
PART 16
1060 CHAPTER 182
FIGURE 182-11 The cluste r of warts on the foot of this African b oy

p romp te d an HIV te st, which was p ositive . While warts alone are ve ry
common in child re n, the larg e cluste r of warts was a stimulus to ask
ab out HIV in the family. The mothe r kne w that she was p ositive for HIV
b ut had re siste d having he r son te ste d until this time . (Use d with p e r-
FIGURE 182-9 Pne umocystis jirove cii Pne umonia on che st x-ray. (Use d PREVENTIO N AND SCREENING
with p e rmission from Re b e cca Sche in, MD.)
~ All pregnant women should be tested for HIV in the rst trimes-
approach that includes medical care, mental health care, and social ter and women with high-risk behaviors should be retested in the
support programs. 7 third trimester or at delivery. 3 HIV positive women are treated
with HAART. Newborn infants are treated with a minimum of
MEDICATIO NS SO R Additional therapy
is recommended on a case by case basis. 8
treat sexually transmitted infections, and encourage partner

See Table 182-1 for further information. 7 noti cation.
FIGURE 182-12 Ce rvical lymp had e nop athy in an 12-ye ar-old African
b oy with p e rinatal HIV infe ction. (Use d with p e rmission from Richard P.
FIGURE 182-10 Tine a cap itis in a child with human immunod e cie ncy
Usatine , MD.)
virus infe ction. (Use d with p e rmission from Ann Pe tru, MD.)
TABLE 182-1 Anti-Re troviral Ag e nts
Class Me chanism o f Act io n Examp le s Ad d it io nal Info rmat io n

Entry inhib itors Eithe r b lock CCR5 or inhib it Maraviroc Maraviroc re q uire s trop hism te sting
me mb rane fusion Enfuvirtid e Enfuvirtid e is only inje ctab le
NRTI1 Nucle otid e analog p re ve nts Zid ovud ine Ab acavir cause s hyp e rse nsitivity re action
DNA e long ation Lamivud ine Zid ovud ine (AZT) may re sult in ane mia, lactic
Te nofovir acid osis, and GI up se t
NNRTI2 Bind and inhib it Ne virap ine Re sistance d e ve lop s rap id ly
Re ve rswe Transcrip tase Efavire nz Ve ry long half-life
Etravirine Efavirenz has CNS side effects and is contra-
ind icate d in 1st trime ste r of p re g nancy
Inte g rase inhib itor Block inte g ration into ce ll Ralte g ravir
g e nome Elvite g ravir
Prote ase inhib itor Bind and inhib it Prote ase Lop inavir Associate d with lip od ystrop hy
Atazanavir Ritonavir is use d to b oost e ffe ct of othe r
Darunavir p rote ase inhib itors
1
NRTI = Nucle otid e Re ve rse Transcrip tase Inhib itor.
2
NNRTI = Non-nucle otid e Re ve rse Transcrip tase Inhib itor.
~ Combination tenofovir plus emtricitabine has been shown to

decrease transmission in discordant couples and may be used for prevent transmission, as previously outlined.
preexposure prophylaxis or PrEP. 9 SO R
PATIENT RESO URCES
~ Encourage use of clean needle programs and avoid needle shar-
ing, methadone maintenance programs, and bleach to disinfect www.thebody.com.
drug paraphernalia.
www.aids-alliance.org.
~ If exposure occurs despite interventions then combination anti-
www.projectinform.org.
retroviral therapy may be used in high-risk cases to prevent infec-
4 SO R PRO VIDER RESO URCES

NIH website
www.aidsinfo.nih
PRO GNO SIS .gov/ .
www.cdc.gov/
actagainstaids/ index.html.
www.who.int/
the various ARVs. In general, patients are expected to lead full lives. publications/ guidelines/ hiv_aids/ en/ index.html.
FO LLO W-UP REFERENCES
Case De nitions for HIV Infection Among Adults, Adolescents, and

and HIV viral loads are followed to determine response to therapy and
additional testing is tailored to evaluate for medication toxicity.7
MMWR Reccommendations and Reports.
1-8.
PATIENT EDUCATIO N
Infection. In Red Book: 2012 Report of the Committee on Infectious
Disease,
of adherence to medication and the risk of resistance of .
medications.
PART 16
1062 CHAPTER 182
Screening for HIV
Annals of Inter-
nal Medicine. content les/ PediatricGuidelines.pdf.
- 8. Nielsen-Saines, K, Watts, H and Veloso, VG, et al. Three postpar-
tion. The New England Journal of Medicine. tum Antiretroviral regimens to prevent intrapatum infection. The
5. Recommendations from CDC, the National Institutes of New England Journal of Medicine.
the Prevention and Treatment of Opportunistic Infections Among the Prevention of HIV Infection in Heterosexually Active Adults.
HIV-Exposed and HIV-Infected Children. MMWR Reccommendations MMWR.
and Reports.
Pediatrics.
PART 16
LYME DISEASE 1063
183 LYME DISEASE

Thomas J. Corson, DO
PATIENT STO RY
On a warm, summer afternoon an 11-year-old girl presents having

had low-grade fevers for 4 days and a rash. On physical examina-
tion, the pediatrician notes annular eruptions with erythema on her
shoulder and legs (Figure 183-1). The mother states that the rash
has gotten progressively larger during the last 3 days and her daugh-
ter complains of intermittent joint pain. She does not recall being
bitten by an insect. She denies taking medications within the last
month and has no known allergies. When asked about recent travel,
the mother admits to taking the family on a camping trip in eastern FIGURE 183-2 The d e e r tick transmits the Borre lia sp iroche te . This is
an une ng org e d fe male b lack-le g g e d d e e r tick. The tick is tiny and can
Massachusetts with a return of 5 days ago. The patient was diag- b e und e te cte d in its une ng org e d state . (Use d with p e rmission from
nosed with Lyme borreliosis (acute Lyme disease) and started Thomas Co rson, MD.)
on doxycycline 100 mg twice daily for 14 days. She responded
quickly to the antibiotics and never developed the late stage of
Lyme disease.
EPIDEMIO LO GY
INTRO DUCTIO N
reporting symptoms originally thought to be juvenile rheumatoid
arthritis. 1
Lyme disease is an infection caused by the spirochete Borrelia
burgdorferi, transmitted via tick bite. Most cases of Lyme disease
occur in the northeast between April and November. Patients infectious pathogen responsible for Lyme disease from the midgut of
experience u-like symptoms and may develop the pathognomonic Ixodes scapularis (a.k.a., black-legged deer ticks; Figure 183-2),
rash, erythema migrans. Lyme disease is prevented by avoiding which serve as the primary transmission vector in the US.1
exposure to the tick vector using insect repellent and protective B. burgdorferi in
clothing. honor of its founder.
A B
FIGURE 183-1 An 11-ye ar-old g irl with e arly d isse minate d Lyme d ise ase p re se nting with multip le e rythe ma mig rans (EM) le sions, low g rad e fe ver
and some inte rmitte nt joint p ain. A. EM with its annular con g uration on he r should e r. B. Multip le ring s of EM on he r le g s. (Use d with p e rmission
from Je re my Gold ing , MD.)
PART 16
1064 CHAPTER 183
common tickborne illness in the US, with an overall incidence of

2
Minnesota, New Jersey, New Hampshire, New York, Pennsylva-

nia, Virginia, and Wisconsin. 3
-
cent of all reported cases in the US in 2005, with an overall inci-
dence of 31.6 cases for every 100,000 persons. 2
B. burgdorferi begins to multiply in the midgut of I. scapularis ticks

upon attaching to humans.
FIGURE 183-3 A 12-ye ar-old g irl with e rythe ma mig rans e rup tion on
he r rig ht arm. The annular b ord e r is some what raise d and the re is ce n-
tral cle aring . (Use d with p e rmission from Je re my Gold ing , MD.)
-
hold pets.
—
most common neurologic manifestation of Lyme disease, occurring
4
in 3 to 5 percent of children with Lyme disease. However, nearly
palsy is a lower motor neuron lesion that results in weakness of

disseminated.
resolution of symptoms is gradual, begins shortly after initial onset,
and does not appear to be in uenced by antimicrobial therapy (see
DIAGNO SIS
— Patients may present with complaints similar
CLINICAL FEATURES to bacterial meningitis (photophobia, nuchal rigidity, and
Early Localized (3 to 32 days after tick bite)
-
cent of Lyme disease cases. 4
(Figures 183-1 and 183-3), this nonpruritic, maculopapular lesion
typically occurs near the site of infection. The erythematous perim-
eter migrates outward over several days while the central area clears.
like symptoms that can include fever, myalgias, headache, malaise,
Early Disseminated (3 to 10 weeks after tick bite)

Erythema migrans— Multiple lesions (Figure 183-4).
~ May develop as a consequence of bacteremic dissemination to
multiple sites.
~ -
ease based on these lesions. FIGURE 183-4 Erythe ma mig rans on the b ack of an 11-ye ar-old b oy
who was camp ing in We ste rn Pe nnsylvania. The ce ntral p ap ule /e xcori-
~ Lesions are usually smaller than primary lesions and often accom- ate d le sion is the site of the b ite and some ce ntral cle aring is visib le .
panied by u-like symptoms. (Use d with p e rmission from Charle s B. Foste r, MD.)
PART 16
LYME DISEASE 1065
headache), but symptoms are generally less severe in nature. This discouraged. Almost all positive serologic test results in these
can also occur with or without concomitant cranial nerve palsy. 4
— subclinical infection and seroconversion also can occur, and the
children with Lyme disease. When it does occur, syncope, light-
headedness, and dyspnea are classic symptoms consistent with Lyme disease almost always have objective signs of infection (e.g.,
atrioventricular (AV) dysfunction. 3 However, patients can be com- -
pletely asymptomatic. The degree of Lyme-associated blockade
varies so that symptoms are generally episodic. Most cases resolve
spontaneously within 1 week. 4
and symptoms as fatigue, myalgia, headache, fever, and -

lymphadenopathy.
between June and September, and tick bites occurring during pregnancy.
Late Disseminated Disease (2 to 12 months after tick bite)
CHARACTERISTIC LABO RATO RY FINDINGS
-
dren with Lyme disease will have this as their presenting manifesta-
tion. 4 Swelling and tenderness of the joint, along with an effusion is
most common. With treatment, the arthritis resolves over days to γ -
weeks, although recurrence occurs in 5 to 10 percent of treated ase (AST).
patients and usually resolves with retreatment. An immune medi-
ated chronic arthritis has been rarely associated in adults with Lyme
disease but is extremely rare in children. 5 may be detectable.
stages almost never develop late manifestations. -

thesias or radicular pain.
- DIFFERENTIAL DIAGNO SIS9
ings and/ or the presence of an erythema migrans lesion, especially in
-
6
—Used as a screening test in patients lacking physical lesions are annular. Urticaria is generally more widespread and the
signs of erythema migrans. Up to 50 percent of patients with early
infection can have a false-negative result. Thus, serologic testing is
Dermacentor varia-
strong suspicion remains, convalescent titers should be obtained in 6
bilis (American dog) tick; rash is petechial and the spots are widely
weeks.6 Prior infection does not indicate immunity. Lyme titers may
be falsely positive in patients with mononucleosis, periodontal dis-
Purpura, Figure 175-5). Patients often appear toxic.
ease, connective tissue disease, and other less common conditions.
B. burgdorferi)—
associated with scaling, which is not characteristic of erythema
migrans; and spreads slowly if at all. The similarity is that the annu-
con rmatory
after 6 weeks, despite appropriate antibiotic therapy. Once it is

determined that a person is seropositive for Lyme disease, antibi-
in skin and do not expand with time; generally less than 2 cm in
for success of therapy should not be performed, as positive sero- diameter, and are usually papular.
- throat and/ or cough.

spread practice of ordering serologic tests for patients with nonspe-
- uncommon in facial nerve palsy not associated with Lyme disease
ability of having Lyme disease or because of parental pressure, is
PART 16
1066 CHAPTER 183
infection generally results in transient illness that resolves within PREVENTIO N

several days, usually after a monophasic course.
-
arthritis associated with Lyme disease. Serologic testing and clinical
promptly remove any attached ticks.
-
pathic Arthritis).
I. scapularis tick that
has been attached for at least 36 hours; medication can be started
MANAGEMENT
with B. burgdorferi is at least 20 percent; and doxycycline is not
MEDICATIO NS contraindicated. 5
Early localize d d ise ase

PRO GNO SIS
a day up to 100 mg/ dose for 14 to 21 days. 5 SO R
-
cycline—Amoxicillin 50 mg/ kg divided 3 times a day up to 500 antimicrobial therapy is excellent.
mg per dose or cefuroxime 30 mg/ kg divided twice a day up to
1000 mg per dose for 14 to 21 days. continue after appropriate treatment, but will resolve over weeks
to months. This is not due to persistence of the organism and
Early d isse minate d d ise ase and late d ise ase repeated courses of antibiotics are not effective in hastening resolu-
tion of these symptoms. 3
-
-
who continue to present with residual subjective symptoms, pro-

disease, but for 14 to 21 days.
viders should seek alternate diagnoses and/ or referral to an appro-
priate specialist.
FO LLO W-UP
~ PATIENT EDUCATIO N
~ Same oral regimen as for early disease (retreatment) but for
in an area that has Lyme disease then use protective clothing, tick
repellent, tick checks, and other simple measures to prevent tick
Atriove ntricular he art b lock or card itis bites. This is especially important during the high-risk months of
April through November. Patients should know the early signs of
- Lyme disease so that they can get care early when it is most curable.
tent or recurrent arthritis for dosing, but for 14 to 21 days.
Me ning itis
PATIENT RESO URCES
14 days; alternative therapy cefotaxime 150 to 200 mg/ kg per day Lyme
up to a maximum of 6 g/ day, divided into 3 to 4 doses per day. 5 Disease—www.cdc.gov/ lyme/ .
SO R
Tick
5 SO R
Removal—www.cdc.gov/ lyme/ removal/ index.html.
REFERRAL O R HO SPITALIZATIO N PRO VIDER RESO URCE

Lyme
severe clinical manifestations, or who do not respond to initial Disease—www.cdc.gov/ lyme/ .
therapy.
PART 16
LYME DISEASE 1067
REFERENCES 6. Lyme Disease Executive Summary. http:// www.harp.org/ eng/

J Emerg
Med.
United States, 2003-2005. MMWR Morb Mortal Wkly Rep

Red Book: 2012
Lyme Disease. http:// Report of the Committee on Infectious Diseases.
4. Meyerhoff JO. Lyme Disease. http:// emedicine.medscape.com/

Differential Diagnosis of Lyme
Disease
-
ment, treatment, and prevention of lyme disease, human granulo-
cytic anaplasmosis, and babesiosis: clinical practice guidelines by
Clin Infect Dis. 2006;
PART 16
1068 CHAPTER 184
184 EPSTEIN BARR and hemolytic anemia can develop as a consequence of EBV infec-
tions. 1 In the immunocompromised host, this virus can cause life-
VIRUS INFECTIO NS threatening infections. 2
(INFECTIO US
MO NO NUCLEO SIS) SYNO NYMS
Blanca E. Gonzale z, MD EBV infection is synonymous with infectious mononucleosis although
infectious mononucleosis can be caused by other viruses such as cyto-
megalovirus (CMV). Other terms associated with EBV are glandular
PATIENT STO RY syndrome and human herpes virus 4. It is referred to as “the kissing
disease” in the popular vernacular.
A 16-year-old boy comes to see his pediatrician because of a 7-day
history of intense sore throat, fever, malaise, and abdominal pain. He
also complains of bilateral neck swelling and tenderness. On exami-
EPIDEMIO LO GY
nation, he has markedly enlarged tonsils with bilateral whitish exu-
dates, and very large lymph nodes palpable in the posterior neck
bilaterally (Figure 184-1). In addition, his spleen is palpable at 1 cm
below the left costal margin. A heterophile antibody test (monospot) and young children. In contrast, in developing nations, 90 percent of
is positive and he is offered symptomatic treatment. His symptoms children less than 6 years of age have been exposed to the virus.1,3,4
persist for about 10 days, after which he recovers completely.
adults.
INTRO DUCTIO N
previous EBV exposure.
Epstein Barr virus (EBV) is a DNA virus that belongs to the Herpes
virus family. It is the most common etiological agent of infectious with slightly higher incidence during summer months. 5–7
mononucleosis, a clinical syndrome characterized by fever, pharyngi-
tis and cervical lymphadenopathy. Rarely, encephalitis, myocarditis, deep kissing, toddlers sharing toys. 8
40 percent of adolescents.
B lymphocytes. 2
(tonsils, spleen, and lymph nodes) by the infected B cells.
+
8
RISK FACTO RS
-
est risk group. Behaviors such as “deep kissing”8 and sexual activity
are risk factors for primary EBV infections.
FIGURE 184-1 Poste rior ce rvical lymp had e nop athy in an ad ole sce nt
with infe ctious mononucle o sis. (Use d with p e rmission from Johanna transplant patients, and patients on immunomodulators are at risk
Gold farb , MD.) of developing severe manifestations of EBV infections.
EPSTEIN BARR VIRUS INFECTIO NS PART 16
(INFECTIO US MO NO NUCLEO SIS) 1069
DIAGNO SIS
the triad of fever, exudative pharyngitis and lymphadenopathy.

-
ent with fever as their only sign of infection.
headache may precede the lymphadenopathy and pharyngitis by

3 to 5 days.
commonly involved. Epitrochlear nodes can also be enlarged

(Figure 184-1). 9,10 Splenomegaly occurs in 80 percent of the
patients and may lead to splenic rupture after mild trauma. 11,12
FIGURE 184-3 Pap ular acrod e rmatitis (also known as Gianotti-Crosti

synd rome ) in an infant. (Use d with p e rmission from Richard P. Usatine ,
course of illness. MD.)
O CULAR MANIFESTATIO NS
-
nucleosis and can be confused with cellulitis. 13,14 multiple and very painful. 22,23
pre-auricular lymphadenopathy). 15,16 CENTRAL NERVO US SYSTEM MANIFESTATIO NS

17,18
has been associated with encephalitis, meningitis, encephalomyelitis,
DERMATO LO GICAL MANIFESTATIO NS and radiculitis. 24
morbilliform and usually is present over the trunk and arms

(Figure 184-2). Occasionally the rash may be urticarial or
petechial. 19–21
20
has been associated with EBV. 21 It tends to occur in infancy and

early childhood (Figure 184-3).
Figure 184-4).
FIGURE 184-4 Erythe ma nod osum d istrib ute d ove r the shins of this
ad ole sce nt. The se are p ainful nod ule s and are associate d with many
FIGURE 184-2 Morb illiform rash in an ad ole sce nt with infe ctious infe ctions, includ ing EBV infe ction. (Use d with p e rmission from Camille
mononucle osis. (Use d with p e rmission from Johanna Gold farb , MD.) Sab e lla, MD.)
PART 16
1070 CHAPTER 184
FIGURE 184-6 Ce rvical and sup raclavicular lymp had e nop athy in a b oy
with Hod g kin’s d ise ase . (Use d with p e rmission from Richard P. Usatine ,
MD.)
-
27
nesses.
FIGURE 184-5 Acute d isse minate d e nce p halomye litis. Note the
hyp od e nse are as in the occip ital and p arie tal are as. Many d iffe re nt
e tiolog ic ag e nts have b e e n associate d with ADEM, includ ing EBV -
infe ctions. (Use d with p e rmission from Ne il Frie d man, MD.)
ies are most elevated between 2 to 5 weeks of illness and may be
negative in 10 to 50 percent of children under the age of 4 years.

25
-
Figure 184-5).
does not exclude EBV.1,28
of abnormal perceptions where patients experience distortions of
negative. 29
improvement of the infectious mononucleosis. 26
diagnosis: Early antigen, viral capsid antibody (VCA) IgM, VCA
Figure 184-8). 30
O THER MANIFESTATIO NS O F EBV INFECTIO NS1,2
ASSO CIATED MALIGNANT PRO CESSES WITH

EBV IN CHILDREN 2
Figure 184-6).

FIGURE 184-7 Atyp ical lymp hocyte with ind e ntation of the nucle i on a
p e rip he ral b lood sme ar, characte ristic of infe ctious mononucle osis.
with dents in the cytoplasm (Figure 184-7 (Use d with p e rmission from Eric Hsi, MD.)
and lymphadenopathy and can occur concurrently with EBV

infection. It can be excluded with appropriate microbiologic
lymphadenopathy, fever, night sweats, and fatigue similar to mono-
but any systemic illness with these features should prompt consider-
ation of Hodgkin’s disease as well as mononucleosis (Figure 184-6).
Hodgkin’s disease may even follow an episode of mononucleosis.
FIGURE 184-8 EBV antib od ie s d uring infe ctious mononucle osis. The
rst antib od ie s to ap p e ar are Ig M and Ig G ag ainst the viral cap sid e
antig e n (Ig M VCA and IGG VCA). The Ig M VCA rise s q uickly and
re mains p ositive for ap p roximate ly 4 months. The Ig G VCA re mains MANAGEMENT
p ositive for life afte r the infe ction. The e arly antig e n (EA) antib od y
follows the VCA antib od ie s and may re main p ositive for more than
6 months and in some p atie nts may b e p ositive life long . The Ep ste in
Barr nucle ar antig e n (EBNA) is the last antib o d y to ap p e ar 1 to
3 months afte r the infe ction and usually re mains p ositive for life .1,30
is coexisting strep pharyngitis use penicillin (not amoxicillin) as
treatment to avoid the common amoxicillin mononucleosis exan-
them (see Chapter 154, Cutaneous Drug Reactions).
the heterophile antibody test may negative or when the
heterophile antibody test is negative and infectious mononucleosis -
remains suspected. mise. 34 SO R
palpable because of risk of splenic rupture.

to measure the viral load in blood of immunocompromised
patients. 31,32
means of inhibition of the lytic phase but there is limited or no
evidence that they improve symptoms of infectious mononucleosis.
Antiviral treatment is reserved for immunocompromised
DIFFERENTIAL DIAGNO SIS33 patients. 35
syndrome and can be indistinguishable from EBV infection. Diag- RADIO LO GY

nosis usually made with serology.
- and help determine when a child can go back to participate in con-
-
aly often absent. normal spleen size are available (Figure 184-9). 36–39
as a cause of heterophile-negative infectious mononucleosis syn-

drome, especially if there is a history of possible epidemiological
exposure.
not often with pharyngitis and lymphadenopathy.
with splenomegaly.
-
dren and may present similarly to EBV infection at these ages.
Often have herpangina or hand-foot-mouth disease (see Chapter
FIGURE 184-9 Sp le nome g aly on ultrasound of the sp le e n in a 16 ye ar-

old - p atie nt with infe ctious mononucle osis. The sp le e n me asure s 17cm.
and thus in the differential diagnosis of EBV infection in young Eve n thoug h the re are no cle arly d e ne d norms of sp le nic size in ad o-
infants. le sce nts, me asure me nt close r to 12 to 13 are consid e re d normal for this
ag e g roup .37,38 The disrup tion in the sp le nic p e rime te r at the b ottom
- le ft p ortion of this e nlarg e d sp le e n is d ue to a sp le nic ve sse l and not a
tory manifestations as the primary focus of infection. sp le nic rup ture. (Use d with p e rmission from Blanca Gonzale z, MD.)
PART 16
1072 CHAPTER 184

http:// my.clevelandclinic.org/ disorders/
approaches have also been successful in treating splenic rupture mononucleosis/ hic_overview.aspx.
associated with EBV infectious mononucleosis. 40 www.healthychildren.org/ English/ health-issues/
conditions/ infections/ Pages/ Infectious-
39
Mononucleosis.
www.emedicinehealth.com/ epstein-barr_virus_
infection/ article_em.htm.
PREVENTIO N PRO VIDER RESO URCES

http:// www.cdc.gov/ epstein-barr/ about-mono.html.
http:// pedsinreview.aappublications.org/ content/
may be infectious prior to the onset of symptoms, prevention
32/ 9/ 375.short.
kissing and sharing food or utensils during the acute phase of the
disease.
REFERENCES
PRO GNO SIS mononucleosis. Adolesc Med State Art Rev

Epstein-Barr virus-recent advances.
Lancet Infect Dis
6 months. 41
longer than this cannot be attributed to active viral infection of infectious mononucleosis by Epstein-Barr virus in Mexican
and other diseases such as Hodgkin’s lymphoma should be children. BMC Res Notes
considered.
different ages. Br Med J
persistent symptoms of infectious mononucleosis for more than 6
months with evidence of other organ involvement (i.e., Hepatitis, -
hemolytic anemia). 42 tive infectious mononucleosis in young adults. Epidemiol Infect.
-
- nucleosis among young adults in Israel: 1978-2009. Eur J Clin
atic in the immune competent host. Microbiol Infect Dis
patients. 2
- children. Korean J Pediatr
43
Behavioral, virologic, and immunologic
factors associated with acquisition and severity of primary
epstein-barr virus infection in university students. J Infect Dis.
FO LLO W-UP
9. Abdel-Aziz M, et al. Epstein-Barr virus infection as a cause of
cervical lymphadenopathy in children. Int J Pediatr Otorhinolaryn-
sports. gol
physical exam have resolved, the patient may return to sports par- lymph nodes: an old physical sign revisited. J R Coll Physicians
ticipation. A 6-week period from the onset of symptoms is often Lond
used as a guideline.
mononucleosis. J Emerg Med

PATIENT EDUCATIO N
infectious mononucleosis. Mayo Clin Proc
and the family. oedema. Neth J Med

-
activities is important to re-establish a normal routine. nucleosis. J Pediatr
reactivated Epstein-Barr-virus infection. Br J Ophthalmol Epstein-Barr virus serological patterns. J Clin Microbiol
92(6):740,855. 47(10):3204-3210.
infections of the central nervous system. Ann Neurol

Am J Ophthalmol 543-548.
infection. Surv Ophthalmol viral monitoring in children undergoing allogeneic hematopoietic

stem cell transplantation. Biol Blood Marrow Transplant.
outcomes. Ophthalmology
33. Horwitz CA, et al. Heterophil-negative infectious mononucleosis
Campinas, Brazil. J Infect Dis.
43 cases. Am J Med
-
tious mononucleosis: allergy or transient immunostimulation? 34. Candy B, Hotopf M. Steroids for symptom control in infectious
Allergy mononucleosis. Cochrane Database Syst Rev. 2006(3):CD004402.
21. Mendoza N, et al. Mucocutaneous manifestations of Epstein-Barr
virus infection. Am J Clin Dermatol for treatment. J Antimicrob Chemother
-
ulcerations resulting from acute Epstein-Barr virus infection. Arch ment in athletes with acute infectious mononucleosis. Br J Sports
Pediatr Adolesc Med Med
37. McCorkle R, et al. Normative spleen size in tall healthy athletes:
infection (ulcus vulvae acutum). Acta Derm Venereol implications for safe return to contact sports after infectious
55-59. mononucleosis. Clin J Sport Med
neurological complications. Scand J Infect Dis mononucleosis: the role of serial ultrasonography. Ear Nose Throat
144. J
25. Dale RC. Acute disseminated encephalomyelitis. Semin Pediatr
Infect Dis infectious mononucleosis: case report and review of the literature.
Pediatr Emerg Care
26. Hausler M, et al. Neurological complications of acute and persistent
Epstein-Barr virus infection in paediatric patients. J Med Virol. -
neous splenic rupture in infectious mononucleosis: a case report
and review of the literature. Pediatrics
-
ulation: diagnostic utility of 2 automated hematology analyzers and
adolescents with chronic fatigue syndrome and recovered controls
positive patients. Arch Pathol Lab Med following infectious mononucleosis. J Pediatr
468-472.
-
phile-positive and heterophile-negative infectious mononucleosis. -
Am J Hematol fection: is this an infectious disease, lymphoproliferative disorder,
Rev Med Virol.
negative heterophil agglutination test. Clinical features in relation 43. Hatton O, Martinez OM, and Esquivel CO. Emerging therapeutic
to Epstein-Barr virus and cytomegalovirus antibodies. J Infect Dis. strategies for Epstein-Barr virus+ post-transplant lymphoprolif-
erative disorder. Pediatr Transplant.
PART 16
1074 CHAPTER 185
185 TO XIC SHO CK in children who had infection caused by Staphylococcus aureus, and has
been well described in menstruating females using tampons. 1,2 A sim-
SYNDRO MES ilar toxic shock-like syndrome has been described in association with
group A streptococcal (GAS) infection. 3,4
EPIDEMIO LO GY
PATIENT STO RY STAPHYLO CO CCAL TO XIC SHO CK
An 11-year-old boy presented to the emergency department with absorbency tampons, and the development of TSS. 5
a 12-hour history of fever, rash over his trunk, vomiting, and diar-
rhea. In the emergency department, he had a fever to 39.3ºC.,
40 percent occur in males and nonmenstruating females. 6
pulse 140/ minute, respiratory rate 40/ minute, and blood pressure
90/ 60 mm Hg. He had conjunctival injection and in amed oral
mucus membranes, and intense erythroderma (red skin) on his trunk previous exposure to TSS toxins and lack neutralizing antibody. 7
and back (Figure 185-1). Laboratory tests revealed thrombocyto-
penia, transaminitis, and an elevated creatinine level that was twice strains of S aureus and who have no antibody to TSS toxin 1 (TSST-
normal for his age. He was given uid resuscitation and was admit- 1) are at highest risk of developing TSS during menstruation, espe-
ted to the pediatric intensive care unit, where he required several cially with tampon use.
uid boluses and inotropic support to maintain adequate blood pres- S aureus can develop
sure and perfusion. He was treated with vancomycin and clindamy- TSS. These infections may be clinically apparent, such as wound
cin. Staphylococcus aureus was isolated from an infected wound on his infections, skin abscesses, cellulitis, tracheitis, or may be occult,
lower extremity that he sustained from a sports injury a few days such as with sinusitis.
prior to his presentation.
STREPTO CO CCAL TO XIC SHO CK-LIKE SYNDRO ME
-
INTRO DUCTIO N
ated with cellulitis and necrotizing fasciitis. 3,4
Toxic shock syndrome (TSS) is an acute illness characterized by fever,
rash, hypotension, and multi-organ system involvement that can infects skin lesions.
progress to shock, renal failure, myocardial dysfunction, and adult
respiratory distress syndrome. TSS was originally described in 1978
S aureus strains that produce TSS toxin 1 or

possibly other Staphylococcal enterotoxins. 8
production of in ammatory mediators such as tumor necrosis

factor and interleukin 1. These mediators cause capillary leakage
that lead to hypotension and multisystem organ dysfunction. 9–11
organ dysfunction.
12
resistant S aureus
RISK FACTO RS
absorbency tampons.
FIGURE 185-1 Erythrod e rma in a child with toxic shock synd rome .
(Use d with p e rmission from Johanna Gold farb , MD.) toxic shock-like syndrome (Figure 185-2).
PART 16
TO XIC SHO CK SYNDRO MES 1075
DIAGNO SIS
CLINICAL FEATURES
syndrome have been published (Tables 185-1 and 185-2).
common.
Figures 185-1
and 185-3).
Figure 185-4), nonpurulent conjunctival

injection (Figure 185-5), and pharyngeal in ammation are com-
mon features on physical examination.
FIGURE 185-2 Child with varice lla who d e ve lo p e d a se cond ary b acte -
rial ce llulitis cause d b y g roup A stre p tococcus. (Use d with p e rmission
from Camille Sab e lla, MD.) -
ness; this commonly occurs in a full-thickness, sheet like manner
(Figure 185-6).
TABLE 185-1 Clinical Case De nition for Stap hylococcal Toxic Shock Synd rome 1
Clinical Manife st at io ns
Fe ve r—Te mp e rature g re ate r than or e q ual to 38.9 C (102 F).
Rash—Diffuse macular e rythrod e rma.
De sq uamation—1 to 2 we e ks afte r onse t of illne ss, p articularly p alms and sole s.
Hyp ote nsion—Systolic b lood p re ssure le ss than or e q ual to 90 mm Hg for ad ults or le ss than fth p e rce ntile b y ag e
for child re n < 16 ye ars of ag e ; orthostatic d rop in d iastolic b lood p re ssure g re ate r than or e q ual to 15 mm Hg
from lying to sitting , orthostatic syncop e , or orthostatic d izzine ss.
Mult isyst e m Invo lve me nt

Thre e or more of the following :
with p yuria (g re ate r than or e q ual to 5 le ukocyte s p e r hig h-p owe r e ld ) in the ab se nce of urinary tract infe ction.
-
and hyp ote nsion are ab se nt.

Ne g ative re sults on the following te sts, if ob taine d :
Case Classi cat io n

Prob ab le —A case with ve of the six clinical nd ing s d e scrib e d p re viously.
Con rme d —A case with all six of the clinical nd ing s d e scrib e d ab ove , includ ing d e sq uamation, unle ss the p atie nt
d ie s b e fore d e sq uamation could occur.
1
Ad ap te d from Wharton M, Chorb a TL, Vog t RL, Morse DL, Bue hle r JW. Case d e nitions for p ub lic he alth surve illance . MMWR
Re comm Re p . 1990;39(RR-13):1-43.
PART 16
1076 CHAPTER 185
TABLE 185-2 Clinical Case De nition of Stre p tococcal Toxic Shock Synd rome 1
(Stre p tococcus p yog e ne s).
II. Clinical Sig ns of Se ve rity.

A. Hyp ote nsion—Systolic p re ssure 90 mm Hg or le ss in ad ults or lowe r than the fth p e rce ntile for ag e in
child re n.
AND
up p e r limit of normal for ag e .

3
or le ss or d isse minate d intravascular coag ulation.
He p atic involve me nt—Ele vate d alanine transaminase , asp artate transaminase , or total b ilirub in conce ntrations
at le ast 2 time s the up p e r limit of normal for ag e .
Ad ult re sp iratory d istre ss synd rome .
A g e ne ralize d e rythe matous macular rash that may d e sq uamate .
Soft tissue ne crosis, includ ing ne crotizing fasciitis or myositis, or g ang re ne .
1
Ad ap te d from National Noti ab le Dise ase s Surve illance Syste m (NNDSS), 2010 Case De nition; Ce nte rs for Dise ase Control and
Pre ve ntion. Found at: http ://wwwn.cd c.g ov/nnd ss/scrip t/case d e f.asp x?Cond YrID= 858&Date Pub =1/1/2010.

to that of Staphylococcal toxic shock; however, GAS toxic shock is
more often preceded by wound infection, cellulitis or pneumonia forms are common.
(Figure 185-7).
DISTRIBUTIO N elevated serum transaminases and disproportionately elevated

conjugated bilirubin levels.
except in the presence of severe hypotension.
FIGURE 185-3 Child with p almar e rythe ma characte ristic of e arly toxic FIGURE 185-4 Strawb e rry tong ue , which is one of the fe ature s of toxic
shock synd rome . (Use d with p e rmission from Camille Sab e lla, MD.) shock synd rome . (Use d with p e rmission from Johanna Gold farb , MD.)
PART 16
FIGURE 185-5 -
d rome . (Use d with p e rmission from Camille Sab e lla, MD.)
S aureus is not required to make the diagnosis of TSS,

but every effort should be made to identify and drain any focus of
infection.
FIGURE 185-7 Wound infe ction cause d b y g roup A stre p tococcus as

a risk factor for stre p tococcal toxic shock-like synd rome . (Use d with
blood or other sterile body site (probable case if GAS isolated from p e rmission from Camille Sab e lla, MD.)
nonsterile body site).
(erythroderma), and hypotension.

-
longed fever, absence of gastrointestinal symptoms, and lack of
these entities.
S. aureus can usually be
differentiated on the basis of positive blood cultures, purpuric
rather than an erythrodermal rash, and lack of conjunctivitis and
mucositis.
syndrome and scarlet fever are not usually associated with the
toxicity and hypotension of TSS.
MANAGEMENT
NO NPHARMACO LO GIC
-
dynamic compromise is critical.
hemodynamic compromise and myocardial dysfunction.

FIGURE 185-6 She e t-like d e sq uamation, which occurs 7 to 10 d ays
afte r the onse t of toxic shock synd rome . (Use d with p e rmission from
Camille Sab e lla, MD.) amount of toxin produced by the organism.
PART 16
1078 CHAPTER 185
as a tampon or other vaginal foreign body, should be removed. FO LLO W-UP
MEDICATIO NS
use tampons. Close follow-up of these patients is warranted.
and prevent relapses and should include coverage against S. aureus

and GAS. SOR
PATIENT EDUCATIO N
empiric choice to cover S. aureus SO R
Parents should be advised to seek care for high fever and rash in any
child who has a wound or skin infection.
inhibit toxin production. SO R
-
PATIENT RESO URCES
cin are often used once the organisms is isolated; clindamycin in
these situations is advantageous because of its superior activity www.ncbi.nlm.nih.gov/ pubmedhealth/ PMH0001676.
against high inoculum, low-replication setting of GAS skin and soft www.toxicshock.com.
tissue infection, as well as its anti-toxin effects. 13,14 www.nlm.nih.gov/ medlineplus/ ency/ article/
000653.htm.
considered in severe cases of staphylococcal toxic shock, although
15,16 SOR
17,18 SOR
aged 10 years or less. Pediatrics. 1984;74:112-117.

SURGERY
foreign material should be undertaken. a subject review. Pediatrics. 1998;101:136-140.
tissues is especially critical in cases of GAS toxic-shock like syn-

drome that involve severe cellulitis and necrotizing fasciitis.
REFERENCES
-
REFERRAL
ated with phagegroup I staphylococci. Lancet. 1978;2:116-118.
TSS should be admitted to the hospital and managed in a pediatric

menstruating women: association with tampon use and Staphylo-
intensive care unit.
coccus aureus and clinical features in 52 cases. N Engl J Med. 1980;
303:1436-1442.
PREVENTIO N AND SCREENING Clin Infect
Dis. 1992;14:2-11.
- -
dren decreases the risk of varicella and bacterial superinfection, cal, and microbiological correlates of an outbreak of group A
which is an important risk factor for TSS. streptococcal septicemia in children. JAMA. 1991;266:533-537.
to not use tampons for several menstrual cycles and to use pads development of toxic shock syndrome: association with a tampon
instead of tampons at night. 19 brand. JAMA. 1982;248:835-839.
S aureus carriage in patients who have recov- -
ered from TSS is controversial and not routinely recommended.
case ascertainment methods. Am J Epidemiol. 1985;122:857-867.
Clin Microbiol Rev. 1988;1:432-446.
PRO GNO SIS -
drome toxin-1 in nonenteric staphylococcal disease. Epidemiol
Infect. 1993;110:477-488.
of any purulent material, and appropriate antimicrobial therapy. 15
necrosis factors by human T cells stimulated by a superantigen,
- toxic shock syndrome toxin-1. Clin Exp Immunol. 1994;96:
tion, refractory shock, and adult respiratory distress syndrome. 422-426.
PART 16
-
coccal and streptococcal toxic shock syndrome are potent induc- patients with toxic shock syndrome. JAMA. 1984;252:3399-3402.
ers of tumor necrosis factorbeta synthesis. J Infect Dis. 1993;168:
232-235. therapy for toxic shock syndrome. JAMA. 1992;267:3315-3316.
J Infect
Dis. 1993;167:997-1002. for streptococcal toxic shock syndrome: a comparative observa-
12. American Academy of Pediatrics. Staphylococcal infections. In: tional study. The Canadian Streptococcal Study Group. Clin Infect
Red Book: Dis. 1999;28:800-807.
2012 Report of the Committee on Infectious Diseases. -
agement of severe group A streptococcal soft tissue infections us-
- ing an aggressive medical regimen including intravenous polyspe-
treatment of streptococcal myositis. J Infect Dis. 1988;158:23-28. approach. Scand J Infect Dis. 2005;37:166-172.
compared with beta-lactam antibiotic treatment of invasive Strepto- Prober CG, eds. Priciples and practice of pediatric infectious dis-
coccus pyogenes infection. Pediatr Infect Dis J. 1999;18:1096-1100.
PART 16
1080 CHAPTER 186
186 PEDIATRIC
TUBERCULO SIS
Nazha Ab ug hali, MD
Je ssie Maxwe ll, MD
Frits van d e r Kuyp , MD
PATIENT STO RY
A 17-month-old Hispanic boy presented to the emergency depart-

ment with a 2-week history of cough, wheezing, fever, and weight
FIGURE 186-2 Comp re ssion of the trache a and rig ht main ste m b ron-
loss. The child was born in the US and lives with his dad and uncle, chus d ue to an e nlarg e d and ne crotic lymp h nod e on che st CT of the
both employed as migrant farm workers. He was admitted to the hos- b oy in Fig ure 186-1 with p rimary p ulmonary tub e rculosis. (Use d with
pital with the diagnosis of bacterial pneumonia and asthma exacerba- p e rmission from Nazha Ab ug hali, MD.)
tion. His initial chest radiograph (CXR) showed right upper and
lower lobe in ltrates (Figure 186-1). He continued to have high for Mycobacterium tuberculosis. His father, sister and uncle all had a pos-
grade fever despite intravenous antibiotics. After further history itive TST and evidence of active pulmonary TB. They were referred
revealed that his mother recently died of tuberculosis (TB), he was expeditiously for evaluation and treatment.
immediately placed in respiratory isolation. A tuberculin skin test
(TST) was positive with a 17 mm of induration, and a computed
tomography (CT) of the chest showed a large lymph node compress- INTRO DUCTIO N
ing the trachea and the right main bronchus (Figure 186-2). Gastric
aspirates for acid fast bacilli (AFB) stain and culture were obtained Despite the signi cant decrease in TB rates in the US and other
and he was started on anti-TB medications. The culture was positive developed countries, tuberculosis continues to be a major cause
of morbidity in developing countries. It is estimated that one third
of the world’s population is currently infected with TB, with 90 per-
cent occurring in developing countries. Diagnosis of TB in children
can be very challenging due to its non-speci c clinical presentation
and its paucibacillary nature coupled with the decrease in TB exper-
tise among practitioners in developed countries. Without timely
diagnosis and prompt institution of appropriate antituberculous
therapy, TB in children can be associated with signi cant morbidity
as well as mortality.
SYNO NYMS
Tuberculosis: Phthisis, Consumption, Wasting disease, White plague.

Scrofula: TB adenitis, usually affecting the cervical lymph nodes.
Pott’s disease: Tuberculosis of the spine.
EPIDEMIO LO GY
-
imately 1.5 million deaths are annually reported by the world health
organization (WHO), with an estimated 500,000 cases and 64,000
deaths occurring among children <15 years of age. 1
children, tuberculosis continues to occur especially among certain

ethnic and racial groups as well as among foreign-born individuals.
FIGURE 186-1 Rig ht, up p e r, and mid d le lob e in ltrate s (circle d ) d ue
to p rimary p ulmonary tub e rculosis on che st x-ray of a 17-mo nth-old
b oy. (Use d with p e rmission from Nazha Ab ug hali, MD.) the foreign born persons in the US. 2
PART 16
PEDIATRIC TUBERCULO SIS 1081
RISK FACTO RS FO R PRO GRESSIO N FRO M TB

rates include immigrants, international adoptees, and refugees from INFECTIO N TO DISEASE (TUBERCULO SIS)
or travelers to high-prevalence regions. -
tent individuals is 5 to 10 percent during their whole life spans with
50 percent of this risk occurring within the rst two years after
ETIO LO GY AND PATHO PHYSIO LO GY infection.
progression. Children < 1 year of age with TB infection have

belonging to the M. tuberculosis complex group, which is composed
40 percent risk of progression to disease.
of multiple species.
Mycobacterium tuberculosis
of high dose steroids, and use of tumor necrosis factor-alpha
(M.tb) that causes the majority of human tuberculosis and Mycobac-
(TNF-alpha) antagonists.
terium bovis that could causes disease in humans by consumption of
unpasteurized milk. 3
lymphoma.
TRANSMISSIO N
DIAGNO SIS
bacilli.
- DEFINITIO NS
cent with active TB disease.
history of exposure to sus-
pected contagious TB case, with negative IGRA and negative TST,
with no clinical, physical or radiological ndings that are consistent
with TB.
TST, with no clinical, physical or radiological ndings that are con-

PATHO PHYSIO LO GY sistent with TB. These patients are non-contagious. The onset of
the hypersensitivity reaction could be associated with erythema
nodosum (Figure 186-3) or phlyctenular keratoconjunctivitis.
forming the initial pulmonary focus or the “Ghon focus.” Infection
is spread to the regional lymph nodes (hilar, mediastinal, paratra-
cheal, or subcarinal). The initial pulmonary focus and the draining
regional nodes forms what is known as the “primary complex” that
is more likely to be seen radiographically in children compared
to adults.
this initial phase of infection with possible dissemination through-

out the body, including the lymph nodes, kidneys, bones, brain,
and the lungs. This provides a nidus for subsequent progressive
disease or reactivation disease.
of tuberculin hypersensitivity is around 2 to 10 weeks and can be

demonstrated by either a positive tuberculin skin test (TST) or
interferon γ release assay (IGRA) blood test.
RISK FACTO RS
RISK FACTO RS FO R TB INFECTIO N
with untreated or inadequately treated pulmonary TB.
TB prevalent areas or history of incarceration. Also, history of

exposure to adults with the following risk factors: foreign birth,
abuse of intravenous drugs, dwellers of homeless shelters, and FIGURE 186-3 Erythe ma nod osum se e n in a young p atie nt d iag nose d
migrant farm workers. with TB infe ction. (Use d with p e rmission from Nazha Ab ug hali, MD.)
PART 16
1082 CHAPTER 186
FIGURE 186-4 The clinical manife stations of tub e rculosis occur at d iffe re nt time s in the d ise ase course in child re n. Re nal involve me nt is the last
manife station to occur typ ically. (Ad ap te d from Marais, BJ, Gie , RP, Schaaf, HS, e t al. The natural history of child hood intra-thoracic tub e rculosis: A
critical re vie w of the p re -che mothe rap y lite rature . Int. J. Tub e rc. Lung Dis. 8:392-402, 2004. “Re p rinte d with p e rmission of the Inte rnational Union
Ag ainst Tub e rculosis and Lung Dise ase . Cop yrig ht © The Union.”)
- exposure to TB. AFB smear and culture are best obtained from
cal, bacteriologic, or histological examination) that are consistent early morning gastric aspirates.
with tuberculosis.
Prog re ssive p rimary tub e rculosis
CLINICAL FEATURES
drain into adjacent bronchi, resulting in local cavitation and spread
children. into other areas of the lung (Figure 186-7).
and severity of extrapulmonary TB are increased among children.

Different manifestations of TB disease tend to occur after different
periods of latency in children (Figure 186-4). 4
involvement.
DISTRIBUTIO N
Pulmonary d ise ase
Primary tub e rculosis
persistent cough, and weight loss.
lymph node enlargement especially of the hilar or mediastinal

nodes (Figures 186-1, 186-2, and 186-5).
nodes may cause compression or obstruction of adjoining airways

(Figure 186-2). In addition, bronchial obstruction may be caused
by severe tuberculous disease secondary to invasion by an infected
node into the bronchus (Figure 186-6). Children may present FIGURE 186-5 Rig ht hilar lymp had e nop athy with in ltrate s in the rig ht
mid d le and up p e r lob e s (arrow) on che st x-ray (CXR) of an 18-ye ar-old
with persistent cough, wheezing or recurrent localized bacterial fe male with p rimary tub e rculosis. (Use d with p e rmission from Nazha
pneumonia. Ab ug hali, MD.)
PART 16
FIGURE 186-6 Bronchial ob struction cause d b y e nd ob ronchial d isease.

(Use d with p e rmission from Nazha Ab ug hali, MD.) FIGURE 186-8 Rig ht-sid e d p le ural e ffusion following p rimary tub e rcu-
lous infe ction. (Use d with p e rmission from Nazha Ab ug hali, MD.)
-
and malaise. ness of breath.
-
immunosuppressed patients. sensitivity reaction to mycobacterial antigens in the pleural space.
bronchoalveolar lavage. AFB stain is usually negative. Pleural biopsy may show caseating
granulomas with positive AFB culture.
Tub e rculous p le ural e ffusion
Ad ult typ e p ulmonary tub e rculosis
within 6 to 9 months after the primary infection (Figure 186-8).
a previously healed focus. Commonly seen in adolescents (Figures
186-9 and 186-10).
FIGURE 186-7 Rig ht lowe r lob e tub e rculous cavity on che st x-ray of a FIGURE 186-9 Sig ni cant le ft up p e r and le ft lowe r lob e in ltrate s on
12-ye ar-old fe male immig rant from Ug and a. (Use d with p e rmission che st x-ray of a 16-ye ar-old male with TB p ne umonia. (Use d with p e r-
from Richard Blinkhorn, MD.) mission from Nazha Ab ug hali, MD.)
PART 16
1084 CHAPTER 186
FIGURE 186-11 Miliary tub e rculosis in an infant with cong e nital tub e r-
culousis. (Use d with p e rmission from Nazha Ab ug hali, MD.)
FIGURE 186-10 Nod ular in ltrate s p re d ominantly in the rig ht up p e r
lob e and e ntire le ft lung with cavitary d ise ase in the le ft up p e r lob e in a
young ad ult male with tub e rculosis. (Use d with p e rmission from Nazha
Ab ug hali, MD.)
occasionally hemoptysis.
~ Stage I
I Typically lasts 1 to 2 weeks.
I Nonspeci c symptoms such as fever, headache, irritability, and
(Figure 186-7).
drowsiness are common.
- ~ Stage II
tory isolation. I Begins abruptly.
I
sensitivity. abnormalities, focal neurologic signs, encephalitis, disorienta-

tion, and speech impairment are manifestations.
Extrap ulmonary tub e rculosis ~ Stage III
Miliary tub e rculosis
I Symptoms include coma, hemiplegia or paraplegia, hyperten-
sion, decerebrate or decorticate posturing, and death.
dissemination, usually involving multiple organs.
stage of illness and early initiation of therapy.
50 percent have negative CXR.

-
meningitis, communicating hydrocephalus or cranial nerve involve-
TB have evidence of meningitis at the time of diagnosis.
ment (Figures 186-12 and 186-13).
-
-
megaly, and generalized lymphadenopathy.
kocytosis with lymphocytic predominance. CSF samples should be
- sent for AFB stain, cultures, and PCR.
out the lung elds (Figure 186-11).
nervous system (CNS) TB. They usually appear as a ring-enhancing
obtained from gastric aspirates, tracheal aspirates, and bone mar- lesion on MRI or CT (Figure 186-14). They are more common in
row and liver biopsies. developing countries, accounting for 10 to 20 percent of pediatric
brain occupying lesions.
high morbidity mortality rate.
Tub e rculous lymp had e nitis
Tub e rculous me ning itis -
quent extrapulmonary manifestation of TB.
6 months after the primary infection. lymphohematogenous spread of bacilli during the primary infection.
PART 16
FIGURE 186-12 Tub e ruculous me ning itis in a 10-month-old g irl. Note

the le p tome ning e al e nhance me nt involving the b asal p ia-arachnoid
and intrap are nchymal e nhance me nt (arrow) on MRI. The e nlarg e me nt
of the te mp oral horn sup p orts the p re se nce of hyd roce p halus. (Use d
with p e rmission from Nazha Ab ug hali, MD.)
FIGURE 186-14 A tub e rculoma shown with an MRI of the b rain using
g ad olinium in an 11-ye ar-old Hisp anic child with TB me ning itis. The
tub e rculoma is visualize d as a ring e nhancing le sion in the le ft me d ial
and te mp oral lob e with surround ing e d e ma. Le p tome ning e al e nhance -
me nt is also p re se nt. (Use d with p e rmission from Nazha Ab ug hali, MD.)
involved in terms of frequency are anterior cervical, posterior cer-
vical, supraclavicular, submandibular, and submental. The nodes
are usually rm and nontender, but may later become matted,
indurated, and uctuant (Figure 186-15). M.tb) and adenitis caused by non-tuberculous mycobacteria (NTM
Table 186-1).
sent for AFB and culture and sensitivity studies.
Ske le tal tub e rculosis
areas are the hip, knee, shoulders, and elbow (Figure 186-16).
Involvement of the smaller bones in the hands and feet (tuberculous
dactylitis) may be seen in young children.
-
nation to the bone or synovium at the time of the initial infection,
with reactivation occurring 12 to 18 months after the initial infec-
tion in children. The presence of a primary focus on CXR strongly
supports the diagnosis.
of localized pain, swelling, and warmth of the affected joint.
aspirate and bone biopsy.
Ab d ominal tub e rculosis

FIGURE 186-13 Communicating hyd roce p halus se cond ary to tub e r-
culous me ning itis se e n on the he ad CT of the infant in Fig ure 186-11. -
(Use d with p e rmission from Nazha Ab ug hali, MD.) enous spread of TB.
PART 16
1086 CHAPTER 186
A B
FIGURE 186-15 A. Mycob acte rium tub e rculosis scrofula in a young fe male . (Use d with p e rmission from Martin G. Mye rs, MD.) B. Mycob acte rium
tub e rculosis scro fula in a young b oy in Africa. Note the crusting around the are as of d rainag e in the late ral ne ck re g ion. (Use d with p e rmission
stools, and weight loss. The ileocecal area is the most commonly
involved with the formation of shallow ulcers.
pain, especially after exercise due to adhesions.
TABLE 186-1 Comp arison of Tub e rculin Skin Te st (TST) with Inte rfe ron
γ Re le ase Assay (IGRA) Blood Te st
TST IGRA
Intrad e rmal inje ction Blood d raw
Re sult is obse rve r d e pe nd e nt Stand ard ize d lab oratory
re sults
Re quire s lab oratory e xpe rtise No lab oratory e q uip -
and sp e cial lab oratory me nt or lab oratory
e q uip me nt e xp e rtise re q uire d
Cannot d iffe re ntiate d ise ase Cannot d iffe re ntiate
and infe ction d ise ase and infe ction
Re q uire s 2 visits Re q uire s 1 visit
Booste r e ffe ct with re p e ate d No b ooste r e ffe ct
te sting
Le ss spe ci c, can be positive More sp e ci c for M.tb
afte r BCG vaccination and
NTM infe ction
Can b e use d for all ag e s Re comme nd e d for chil-
FIGURE 186-16 Mycob acte rium tub e rculosis infe ction in an 18-month-
d re n > 4 ye ars of ag e 1 o ld with a rig ht up p e r lob e in ltrate and TB o ste o mye litis in the
me tap hysis of the rig ht hume rus (arrow). (Use d with p e rmission from
1
Limite d d ata for child re n und e r 4 ye ars of ag e . Nazha Ab ug hali, MD.)
PART 16
TABLE 186-3 Re comme nd e d Use s of Tub e rculin Skin Te st (TST) and

Inte rfe ron γ Re le ase Assay (IGRA) Blood Te st
Re co mme nd e d Use s o f TST
Re co mme nd e d Use s o f IGRA
Re co mme nd e d Use s o f TST and IGRA
is hig h or the outcome is p oor
FIGURE 186-17 CT ab d ome n showing some what loculate d colle ction BCG, con rmatory te sting is ne e d e d , or if nontub e r-
of me se nte ric ascite s with p e rip he ral e nhance me nt and soft tissue culous mycob acte rial d ise ase is susp e cte d
thicke ning of the ome ntum. This thicke ning is known as “caking ”
(arrow). (Use d with p e rmission from Nazha Ab ug hali, MD.)
- and approved for the diagnosis of TB infection. Two tests are cur-
nitis presents with tender “doughy abdomen.” Serous peritonitis -
might have an insidious presentation with ascites, or could present estix, Carnegie, Australia) that measures whole-blood interferon γ
with fever as bacterial peritonitis. production. The second test is the enzyme-linked immunospot
-
ules in the liver and spleen or mesenteric lymph node enlargement. measures the number of lymphocytes that produce interferon γ
In TB peritonitis, CT could also show the typical omental caking (Tables 186-1 and 186-3). Both employ incubation of blood lym-
(Figure 186-17). Biopsies of involved organs such as liver, lymph phocytes with M.tb speci c antigens.
node or omentum and peritoneal uid could be sent for AFB cul-
ture as well as PCR. LABO RATO RY DIAGNO SIS O F TB DISEASE
LABO RATO RY TESTING Fluorochrome stains. The AFB smear cannot differentiate M.
Currently there are two tests available for the diagnosis of TB infec- tuberculosis from mycobacteria other than TB (MOTT).
tion: TST and IGRA. 5
aspirates, sputum, bronchial washings, pleural uid, CSF, urine,
protein derivative (PPD) of tuberculin is injected intradermally
and induced sputum in older children have the highest yield.
Drug susceptibility testing should be performed on all positive
presence of TB infection (Table 186-2).
cultures.
M. tuberculosis is a very slow growing organism. Cultures may take
TABLE 186-2 Risk Factors Associate d with a Positive Tub e rculin Skin
Te st (TST) 3 to 6 weeks to grow on solid media, with drug susceptibility test-
ing requiring an additional 4 weeks (Figure 186-18). Use of solid
Ind urat io n Risk Fact o rs Asso ciat e d wit h a media allows examination of colony morphology and quanti ca-
Size Po sit ive TST tion of growth. Growth can be detected in 1 to 3 weeks by utiliz-
≥5 mm Immunocomp romise d Ind ivid ual
Known contact with a TB case 5 days.
Che st rad iog rap h of p atie nt consiste nt M. tuberculosis in clinical specimens sometimes can
with TB be detected directly within hours using nucleic acid ampli cation
≥10 mm Young ag e (< 4 ye ars old )
Chronic me d ical cond itions
He alth care p rovid e r children with clinical diagnosis of pulmonary TB.
Re sid e nce /b irth in country with hig h
p re vale nce liver, pleura, and peritoneal mesentery with demonstration of
≥15 mm All consid e re d p ositive AFB and granulomas can be very supportive of TB diagnosis
(Figures 186-19 and 186-20).
PART 16
1088 CHAPTER 186
FIGURE 186-18 Tan crumb -like colonie s of M. tub e rculosis on Lowe n- FIGURE 186-20 Acid fast b acilli (arrows) associate d with case ous
ste in-Je nse ag ar. (Use d with p e rmission from Jose ph Tomashe fksi, MD.) ne crosis shown on Zie hl-Ne e lse n staining . (Use d with p e rmission from
Jose p h Tomashe fski, MD.)
IMAGING
IGRA. pulmonary TB needs to be ruled out in the caregivers before they

are allowed on the pediatric ward.
other specialized radiographic studies. they have a cough.
obtained in every child with suspected TB especially in the pres-

DIFFERENTIAL DIAGNO SIS ence of:
~
The presenting differential diagnosis of TBis elucidated in Table 186-4. ~ Possible exposure to a source case with multiple drug resistant
TB (MDR-TB).
~
6–9
MANAGEMENT ~ Child is suspected to have MDR-TB based on a history of travel
or birth in areas with high TB prevalence.
-
require respiratory isolation when hospitalized. However,
ent areas of the world, especially in foreign-born children. All
TB cases should be reported to the local TB program, and contact
investigation of all family members and close contacts should be
performed.
to ensure compliance with treatment.
PHARMACO LO GIC
~ The type of TB disease.

~
(if available).
~ The countries TB resistance pattern.
Table 186-5 for a summary of treatment recommendations.
meningitis and may be considered in endobronchial disease, or

SO R
FIGURE 186-19 A case ating g ranuloma with ce ntral case ous ne crosis,
p e rip he ral e p ithe lioid ce lls, Lang hans g iant ce lls, and a lymp hocyte
cuff. (Use d with p e rmission fro m Jose p h Tomashe fski, MD.) SO R
PART 16
TABLE 186-4 Pre se nting Diffe re ntial Diag nosis of TB
Pre se nt ing Diag no sis

Pne umonia
Stre p tococcus p ne umoniae , Stre p tococcus p yog e ne s, Stap hylococcus aure us,
Nocard ia
Me ning itis
Stre p tococcus p ne umoniae , Ne isse ria me ning itid e s, Bruce llosis
Brain Tub e rculoma
Lymp had e nop athy
Bartone lla he nse lae , Stap hylococcus aure us,

Stre p tococcus p yog e ne s Toxop lasma g ond ii
Pe ritonitis
TB Ente ritis
Streptococcus, Stap hylococcus aure us
Miliary
TABLE 186-5 Tre atme nt Re comme nd ations for Tub e rculosis
Primary Tre at me nt Re co mme nd at io ns fo r Drug Re sist ance

TB Exp osure
re sistance 1
rifamp in the rap y until se cond te sting .
Late nt Tub e rculosis
1
Infe ction
Pulmonary and Extrap ul-
monary Dise ase e thamb utol for 2 months followe d b y 6 months of isoniazid and rifamp in
Exclud ing Me ning itis isoniazid and rifamp in for 4 months 2 1
Me ning itis
an aminog lycosid e or e thamb utol or kanamycin, amikacin, or cap re omycin
e thionamid e for 2 months followe d
b y 7 to 10 months of isoniazid and re sistance 1
rifamp in
1
2
In the initial CXR shows cavitary le sions, and sp utum re mains p ositive afte r 2 months of the rap y, the d uration of the rap y is
PART 16
1090 CHAPTER 186
SURGERY -
apy, TB meningitis and miliary TB could be associated with high
sample when needed for diagnosis. morbidity and mortality.
shunt to be placed.
FO LLO W-UP
REFERRAL
clinically indicated for patients with pulmonary tuberculosis.

or infectious disease specialist.
patient with central nervous system involvement. Ophthalmology

to rule out optic neuritis.
will need to follow up patients with ocular involvement.
appropriate surgical specialist.

child has history of hepatitis or has signs or symptoms such as
jaundice, vomiting and abdominal pain.
PATIENT RESO URCES8
www.cdc
health care workers and public health of cials. Health care workers .gov/ tb/ publications/ factsheets/ general/ tb.htm.
are required to report all suspected TB cases to their local TB pro-
gram. In turn, it is the responsibility of the TB program to:
PRO VIDER RESO URCES9
www.cdc.gov/ tb/ programs/ Evaluation/ Default.htm.

age of 4 years until the second TB test results are available.
www
.cdc.gov/ tb/ publications/ factsheets/ general/ tb.htm.
are young, newly converted, or immunocompromised.
The American Association of Pediatrics (AAP) has recommendations
REFERENCES
for screening children who are at risk for TB (2):
1. World Health Organization. Tuberculosis.
Immediate Testing
2. Red Book Online. Tuberculosis
3. Centers for Disease Control. Tuberculosis

Non-Urgent Testing
4. Marais, BJ, Gie, RP, Schaaf, HS, et al: The natural history of child-
hood intra-thoracic tuberculosis: A critical review of the pre-
than 1 week or immigrated from a high risk country. chemotherapy literature. Int. J. Tuberc. Lung Dis
Annual Testing 5. Center for Disease Control: Updated Guidelines for Using Inter-
feron Gamma Release Assays to Detect Mycobacterium tuberculosis
adolescents that are incarcerated.
rr5905.pdf.
6. Fitzgerald, DW, Sterling, TR, Haas, DW: Mandell: Mandell,
worldwide except in the US and the Netherlands. In general it has
Douglas, and Bennett’s Principles and Practice of Infectious
low ef cacy, with the primary value of the vaccine being in the pre-
Diseases. In: Mycobacterium Tuberculosis, 7th ed. Philadelphia, PA:
vention of miliaryTB and tuberculous meningitis in young infants.
PRO GNO SIS eds. Tuberculosis

8. Newton SM, Brent AJ, Aderson S, et al. Pediatric Tuberculosis.
Lancet Infect Dis
effective in preventing future TB disease.
with antituberculous therapy is usually excellent, with cure rates of 9. Cruz, AT, Starke, JR: Pediatric Tuberculosis. Pediatrics in Review.
95 to 100 percent.
PART 16
CO NGENITAL AND PERINATAL INFECTIO NS 1091
187 CO NGENITAL AND Streptococcus agalactiae (Group B Streptococci)
PERINATAL INFECTIO NS life) is 0.3/ 1000 live births. 1,2

organism.
organism in the genital and/ or gastrointestinal tract.

PATIENT STO RY -
ism to their infants; 1 to 2 percent of colonized infants develop
A 7-day-old infant is seen in the emergency department because of a early-onset sepsis (if intrapartum antimicrobial prophylaxis is not
rash that was noted on the infant’s trunk and back. The rash consisted provided); risk higher if risk factors are present (see the following
of crops of vesicular lesions on an erythematous base (Figure 187-1). section “Risk Factors”).
The infant was born at term gestation to an 18-year-old mother who
had poor prenatal care. The mother denied a history of herpes sim-
since the implementation of maternal intrapartum antibiotic
plex infection or other sexually transmitted infections. A direct uo-
prophylaxis. 3
rescent antibody test for herpes simplex virus (HSV) was positive and
an HSV culture from the lesion was positive. A lumbar puncture was Herpes Simplex Virus (HSV)
normal, and blood and CSF tests for HSV DNA were negative. The 4
infant was admitted and treated with intravenous acyclovir for 14 days
and recovered without sequelae.
tract at the time of delivery. 5
INTRO DUCTIO N accounts from 30 percent of cases.
Many microbiological agents can cause infection in the newborn 60 to 80 percent of neonates who have HSV infection are born
infant. These infections may be acquired in utero, at the time of deliv- to mothers who have no history of current or past genital HSV
ery, or in the immediate newborn period. Although the majority of infection. 5
congenital infections result in inapparent infection, it is imperative to
recognize infections that manifest symptomatically. Although the
primary infection is 35 to 50 percent, while the transmission rate
clinical manifestations of these infections may be similar regardless of
during a recurrence of HSV is 2 to 5 percent.
the pathogen, speci c clinical ndings and patterns may serve as
important clues for speci c microorganisms. Enteroviruses
EPIDEMIO LO GY viruses at the time of delivery.

-
tions in late summer and early autumn.
for the infection: -
cal complications, and summertime or autumn illness may serve as
clues to the diagnosis. 6
Cytomegalovirus (CMV)
1 percent of all newborns in the US. 7
breastfeeding or blood transfusion.

-
tion; risk considerably higher if infection is a result of a primary
maternal infection.
Toxoplasma infection
8
FIGURE 187-1 Ve sicular le sions of HSV in an infant. (Use d with of food containing cysts or by exposure to oocytes excreted
p e rmission from Johanna Gold farb , MD.) by cats.
PART 16
1092 CHAPTER 187
primary infection. serve as an important source of primary Toxoplasma maternal

- infection.
tional age; however, neonatal manifestations are more severe when
the fetus is infected early in pregnancy (i.e., rst trimester). 9
rubella infection.
Rubella
syphilis.
because of widespread immunization against the virus.
pregnancy. DIAGNO SIS
maternal infection occurs during the rst trimester. Risk is CLINICAL FEATURES
signi cantly lower if maternal infection occurs in the second or Pe rinatally acq uire d infe ctions
third trimester. 10
Syphilis of delivery usually become apparent soon after birth but may occur
include S. agalactiae E. coli, L. monocytogenes, herpes

reported levels in 2000. Since that time, the rate of primary and
simplex virus, and enteroviruses.
secondary syphilis has increased among women, with a concomi-
tant increase in cases of congenital syphilis since 2005. 11 -
natally acquired infections; brain abscess may complicate meningitis
caused by neonatal pathogens, especially gram negative organisms
ETIO LO GY AND PATHO PHYSIO LO GY (Figure 187-2).
Streptococcus agalactiae be subtle and are similar regardless of etiology; meningitis is clini-
Escherichia coli, and Listeria monocytogenes. cally indistinguishable from sepsis in this age group.
-
commonly transmitted to the infant at the time of delivery. tory distress, apnea, feeding intolerance, lethargy, and jaundice.
-
ery; infection of the neonate may occur in utero (very rare) or may
occur after postnatal acquisition from an oro-labial HSV infection.
maternal infection and may be acquired in utero, at the time of

delivery or postnatally, through breastfeeding or blood transfusion.
Toxoplasma gondii and Rubella congenital infections are a result of
maternal primary infection.
Treponema pallidum may result in
congenital syphilis; because the fetus acquires the infection from
hematogenous spread, the clinical manifestations in the newborn
are similar to those of secondary syphilis.
RISK FACTO RS
~ Maternal colonization at the time of delivery.

~ Prematurity (less than 37 weeks gestation).
~ Prolonged rupture of membranes (> 18 hours).
~ Chorioamnionitis/ maternal fever.
~
FIGURE 187-2 Multip le b rain ab sce sse s se e n on MRI in a 3-we e k-old

pregnant mother to a contact who is shedding enterovirus. infant. Brain ab sce ss is a comp lication of me ning itis in ne onate s, and
most commonly is cause d b y g ram-ne g ative org anisms like Citrob acte r
kose ri, Se rratia marce sce ns, and E. coli. (Use d with p e rmission from
is a risk factor for primary CMV infection during pregnancy. 12 Camille Sab e lla, MD.)
PART 16
TABLE 187-1 Common Clinical Manife stations of Intraute rine Infe ction
He p atosp le nome g aly

Jaund ice
Rash
Microce p haly
Intracranial calci cations
Me ning oe nce p halitis
Choriore tinitis
Cataracts
Microp hthalmia
Bone le sions
FIGURE 187-3 Crop s of ve sicular le sions on an e rythe matous b ase ,
characte ristic o f HSV infe ctions in a 10-d ay-old infant. (Use d with Ad e nop athy
p e rmission from Blanca E. Gonzale z, MD.)
Card iac ab normalitie s
Pne umonitis
localized disease (con ned to the skin, eyes, or mucous mem- Thromb ocytop e nia
branes), disseminated infection, or infection con ned to the central
Ane mia
nervous system. 13
- Se nsorine ural he aring loss
tous base (Figure 187-3) are the hallmark features of localized
HSV infection in the newborn.
-
or may be severe and life-threatening; a macular, maculopapular, genital abnormalities:
vesicular, or petechial rash may be present in these infants
~ -
(Figure 187-4). 6 sion disease consisting of intrauterine growth retardation, hepa-
tosplenomegaly, jaundice, thrombocytopenia, lymphadenopathy,
Intraute rine infe ctions petechial/ purpuric rash, and microcephaly (Figure 187-5). 14
~ Common manifestations of rubella infection include hepato-
shortly after birth, or they may become apparent months to years splenomegaly, jaundice, cataracts (Figure 187-6), blueberry
later.
the etiology and are listed in Table 187-1.
FIGURE 187-5 Infant with the “b lue b e rry muf n” rash re p re se nting
e xtrame d ullary he matop oie sis. This is classically d e scrib e d for cong e ni-
FIGURE 187-4 Ente roviral infe ction in a critically ill infant. Note the tal rub e lla b ut can b e se e n with cong e nital CMV as we ll. (Use d with
sub tle maculop ap ular rash which can se rve as a clue to the d iag nosis. p e rmission from Shah SS. Pe d iatric Practice : Infe ctious Dise ase s. Fig ure
(Use d with p e rmission from Camille Sab e lla, MD.) 50-1. www.acce ssp e d iatrics.com.)
PART 16
1094 CHAPTER 187
FIGURE 187-6 Bilate ral cataracts in an infant with cong e nital rub e lla
synd rome . (Use d with p e rmission from CDC.)
muf n lesions (dermal erythropoiesis; Figure 187-7), and

congenital heart disease.
~ The classic triad of congenital toxoplasma infection include
chorioretinitis, hydrocephalus, and cerebral calci cations. 15
~
include syphilitic rhinitis (snuf es), maculopapular, or vesicobul-

lous rash on the palms, soles, mouth or anus, and long bone peri- FIGURE 187-8 A ne wb orn infant with cong e nital syp hilis. No te the
ostitis (Figures 187-8 and 187-9; see Chapter 181, Syphilis). 16 he p atosp le nome g aly as outline d , rig ht sid e d axillary ad e nop athy, and
the b lood y, muco usy nasal d ischarg e (snuf e s). (Use d with p e rmission
uorescent antibody testing of cells from a skin lesion can also be
an organism from the blood or cerebrospinal uid. utilized to provide a rapid diagnosis. 17,18
-
sensitive nor speci c for the diagnosis of neonatal sepsis. tivae, and rectum is used to diagnose disseminated HSV infection.
-
diagnosing localized HSV infection in the newborn; direct clear cells is recommended for diagnosing disseminated infection. 19
FIGURE 187-7 A ne onate with cong e nital rub e lla synd rome . Note the FIGURE 187-9 Infant with cong e nital syp hilis. Note the scaly, b ullous
“b lue b e rry muf n” rash, which re p re se nts site s of e xtrame d ullary rash on the rash and e xtre mitie s, includ ing the p alms in this infant.
he mato p oie sis. Also note the microce p haly. (Use d with p e rmission (Use d with p e rmission from We inb e rg SW, Prose NS, Kristal L. Color
from We inb e rg SW, Prose NS, Kristal L. Color Atlas of Pe d iatric De rma- Atlas of Pe d iatric De rmatolog y, 4th e d ition, Fig ure 4-1, Ne w Yo rk, NY:
tolog y, 4th e d ition, Fig ure 5-51, Ne w York, NY: McGraw-Hill, 2008.) McGraw-Hill, 2008.)
PART 16
-
nal uid is the diagnostic test of choice for diagnosing central
nervous system infection. 20
is helpful in diagnosing neonatal enteroviral infection; Polymerase

chain reaction for enterovirus RNA from cerebrospinal uid is
more sensitive than viral culture for the diagnosis of enteroviral
meningoencephalitis. 21
con rms congenital infection.
urine, cerebrospinal uid or nasopharynx in suspected cases;
the diagnosis.
FIGURE 187-11 X-ray of the arm of an infant with cong e nital syp hilis.
The re are transve rse me tap hyse al luce nt b and s se e n involving the d is-
relies on serologic assays on the infant and mother; persistent or tal rad ius and ulna and smooth o rg anize d lame llate d p e rioste al ne w
b one se e n involving the ulnar d iap hysis and me tap hysis. (Use d with
help establish the diagnosis; nucleic acid assays, histopathology of
the placenta or infected tissues and mouse inoculation assays on the
infant’s blood or placenta may also be helpful. and is a relatively common complication of gram negative meningi-
tis (Figure 187-2).
treponemal and treponemal antibody testing in the mother and the -
infant is recommended; A positive result of a nontreponemal anti- genital infection, and is a common nding in infants with congenital
body test in an infant that does not disappear by 6 months of age, a syphilis (Figure 187-11).
rising titer after birth, or a titer in an infant that is fourfold higher
than the mother’s titer are highly suggestive of congenital infection. 22 by CMV and Toxoplasma; calci cations caused by CMV are often
periventricular in distribution (Figure 187-12) while those caused
IMAGING by Toxoplasma are commonly intraparenchymal (Figure 187-13).
-
cus, is indistinguishable from respiratory distress syndrome of the
newborn (Figure 187-10).
indistinguishable for other newborn illnesses, such as respiratory dis-

tress syndrome, congenital heart disease, and metabolic disorders.
FIGURE 187-10 X-ray of ne onatal p ne umonia. (Use d with p e rmission FIGURE 187-12 Perive ntricular calci cations in an infant with congenital
from Camille Sab e lla, MD.) CMV. (Use d with p e rmission from Camille Sab e lla, MD.)
PART 16
1096 CHAPTER 187
recommended for mothers who have:

~
time of delivery, maternal intrapartum prophylaxis is indicated if

any of the following are present:
~ Delivery at less than 37 weeks gestation.
~ Membranes ruptured for 18 hours or longer.
~ ≥38°C [100.4°F]).
~
streptococcus.
pregnancy and preferably again at delivery; no newborn should be

discharged from the hospital without determination of the mothers
syphilis serologic status at least once during pregnancy. 27,31
PRO GNO SIS
FIGURE 187-13 Pare nchymal calci cations se e n on CT in the b rain an

infant with cong e nital toxop lasmosis. (Use d with p e rmission from meningitis is 10 to 25 percent.
survivors of neonatal bacterial meningitis.

MANAGEMENT
among neonates with disseminated HSV infection; those with local-
NO NPHARMACO LO GIC ized infections that are appropriately treated with antiviral therapy
all survive. 24
for every newborn suspected of having or proven to have an infection. -
inated and central nervous system HSV infection. 13,24
MEDICATIO NS
long-term neurologic sequelae, despite appropriate treatment. 24
sepsis should be initiated empirically and must include coverage for
E. coli, and L. monocytogenes.
and dependent upon the agent, the extent of involvement, and the
organ systems affected.
more speci c therapy directed against a particular pathogen can be
undertaken once a pathogen is identi ed. SO R
30 percent, whereas the overall mortality of symptomatic CMV
congenital infection is 10 to 15 percent. 14
infection. 23,24 SO R
-
tual de cits, occur in approximately 5 to 10 percent of infants who
currently under study; antiviral therapy for infants with congenital have asymptomatic congenital CMV infection. 32–34
CMV infection is not routinely recommended at this time. 25 SO R
congenital Toxoplasma infection decreases the severity of disease FO LLO W-UP

and the frequency of sequelae. 26 SO R
proven or suspected congenital syphilis. 27,28 SO R congenital infection is mandatory, with particular attention to neu-
rodevelopment, hearing, and vision.

PATIENT EDUCATIO N
should be performed in all pregnant women at 35 to 37 weeks’

gestation. 29,30 risk of transmission of infection to their infants.
PART 16
PATIENT RESO URCES 11. Centers for Disease Control and Prevention. Congenital syphilis–
www.congenitalcmv.org/ public.htm. United States, 2003-2008. MMWR. 2010;59:413-417.
www.cmvfoundation.org. -
miology of congenital cytomegalovirus (CMV) infection. Rev
www.bcm.edu/ pediatrics/ cmvregistry. Med Virol. 2007;17(4)253-276.
www.cdc.gov/ features/ pregnancy. -
www.cdc.gov/ Features/ PrenatalInfections. tal herpes simplex virus infections in the acyclovir era. Pediatrics.
2001;108:223-229.
- atic congenital cytomegalovirus infection: neonatal morbidity
Red Book: 2012 Report of the Committee and mortality. Pediatr Infect Dis J. 1992;11:93-99.
on Infectious Diseases
of Pediatrics; 2012. neonatal toxoplasmosis exposure and sensorineural hearing loss.
Int J Pediatr Otorhinolaryngol. 2009;73:707-711.
infections. N Engl J Med. 2009;361:1376-1385. -
malities as a sign of active congenital syphilis in asymptomatic
herpesvirus central nervous system infections: Neonatal herpes newborns. Pediatrics. 1991;88:1037-1040.
simplex virus infection, herpes simplex encephalitis, and congeni- -
tal cytomegalovirus infection. Antiviral Res. 2009;83:207-213. bodies to herpes simplex viruses: Use in antigenic typing and
rapid diagnosis. J Infect Dis. 1983;147:829.
REFERENCES
simplex virus in direct specimens by immuno uorescence assay
- using a monoclonal antibody. J Clin Microbiol. 1987;25:958.
Red Book: 2012 Report

reports- ndings/ survreports/ gbs10.pdf.
of the Committee on Infectious Diseases
- 398-408.
natal sepsis at Yale: 1928–2003. Pediatrics 2005;116:595-602.
-
tis: application of polymerase chain reaction to cerebrospinal uid
from brainbiopsied patients and correlation with disease. J Infect
intrapartum antibiotic prophylaxis. N Engl J Med. 2000;342(1): Dis. 1995;171:857.
15-20.
21. Sawyer M, Holland D, Aintablian N, et al. Diagnosis of enteroviral
central nervous system infection by polymerase chain reaction
serologic status and cesarean delivery on transmission rates of her- during a large community outbreak. Pediatr Infect Dis J. 1994;13:
pes simplex virus from mother to infant. JAMA. 2003;289:203-209. 177-182.
-
plex virus during pregnancy. N Engl J Med. 1997;337:509-515. Red Book: 2012 Report
of the Committee on Infectious Diseases
J Pediatr. 1976;89:787-791. 690-703.
the epidemiology and outcome. Obstet Gynecol Surv. 2002;57: with acyclovir in neonatal herpes simplex virus infection. N Engl
245-256. J Med. 1991;324:444-449.
Toxoplas- -
mosis
intravenous acyclovir in the management of neonatal herpes
simplex virus infections. Pediatrics. 2001;108:230-238.
9. Dunn, MWallon, Peyron F. Mother-to-child transmission of
toxoplasmosis: risk estimates for clinical counseling. Lancet. Red Book:
1999;353:1829-1833. 2012 Report of the Committee on Infectious Diseases
-
rmed maternal rubella at successive stages of pregnancy. Lancet
1982; 8302:782-784. congenital toxoplasmosis, 1981–2004: the National Collaborative
PART 16
1098 CHAPTER 187
Clin Infect Dis.

2006;42:1383-1394. infection in pregnant women: evidence for the US Preventive
Services Task Force reaf rmation recommendation statement.
Red Book: 2012 Report of the Com- Ann Intern Med. 2009;150(10):710-716.
mittee on Infectious Diseases -
28. Centers for Disease Control and Prevention. Sexually transmitted natally acquired cytomegalovirus infections: long term follow-up.
MMWR J Pediatr. 1984;104:674-679.
Recomm Rep. 2010;59:1-110.
29. Centers for Disease Control and Prevention. Prevention of congenital cytomegalovirus infection: a longitudinal follow-up
study. Am J Dis Children. 1982;136:896-901.
CDC, 2010. MMWR Recomm Rep. 2010;59:1-36. -
- Progress
in Cytomegalovirus Research
Publishers; 1991:3-10.
PART 16
ZO O NO SES 1099
188 ZO O NO SES
Lara Danzig e r-Isakov, MD, MPH
PATIENT STO RY
A 12-year-old boy developed fever to 38.9ºC and felt ill. Over the
next 2 days, he developed a red spots on his hands and arms, which
became petechial (Figure 188-1) and spread to involve his entire
upper extremities and trunk. He also developed abdominal pain and a FIGURE 188-1 Pe techial rash characte ristic of late Rocky Mountain Spot-
headache. History was signi cant for a recent camping trip with his ted Fever (RMSF). (Used with permission from Johanna Goldfarb, MD.)
family to the Southeastern coast of the US. The parents report that he
did sustain several tick bites while camping. He was treated presump-
tively for Rocky Mountain Spotted Fever (RMSF) with doxycycline, EPIDEMIO LO GY
and his symptoms resolved over several days.
~ Incidence is highest (19 to 77 cases/ 1 million people in 2008)

INTRO DUCTIO N in Southeastern (Virginia, Carolinas) and Central (Tennessee,
Missouri, Arkansas and Oklahoma) US (Figure 188-2). 1
Zoonoses are infectious agents spread to humans by animals. Infec-
~ Approximately 2,000 cases are reported annually in the US.
tion may occur through direct contact with the animal or via vectors
~ 1/ 3 of all cases are in the pediatric age group. 2,3
such as ticks (Table 188-1). Examples of zoonotic diseases include
RMSF, Ehrlichiosis, Tularemia, Cat-scratch disease, and Rat-bite ~ Incidence is highest (14 to 33 cases/ 1 million people in 2008) in
fever. Central States (Missouri, Arkansas and Oklahoma) with moderate
TABLE 188-1 Ep id e miolo g ic Characte ristics of Se le cte d Zoo no se s
Dise ase Infe ct io us Ag e nt Se aso nalit y Re se rvo ir Ve ct o r/ Exp o sure Risk Are a
RMSF Rickettsia rickettsia Late sp ring Wild mammals, Ticks: De rmace ntor Southe aste rn US
throug h such as sq uir- and e rsoni, in we ste rn
e arly fall re ls, op ossums, US; De rmace ntor
rab b its, d og s, variab ilis in the e ast-
and mice e rn US; Rhip ice p halus
sang uine us in Arizona
and Me xico
Ehrlichiosis/ E. chaffe e nsis; Late sp ring De e r Ticks: Ixod e s scap ularis Easte rn se ab oard ,
Anap lasmosis E. e wing ii; throug h and Amb lyomma South Ce ntral,
Anap lasma e arly fall ame ricanum Mid we st and
p hag ocytop hila Northe rn California
Tulare mia Francise lla Late sp ring Rabbits, hare s and Dire ct e xp osure or Ticks Ce ntral US
tulare nsis throug h small rod e nts
e arly fall
Rat-b ite Fe ve r Stre p tob acillus None Rats, mice , Dire ct e xp osure /b ite
moniliformis in sq uirre ls
the US
Sp irillum minus
Cat-scratch Bartone lla Cats Dire ct e xp osure
d ise ase he nse lae
PART 16
1100 CHAPTER 188
FIGURE 188-2 Rocky Mountain Sp otte d Fe ve r. Numb e r of re p orte d case s, b y county, US, 2010. (Use d with
p e rmission from the National Noti ab le Dise ase Surve illance Syste m, Ce nte rs for Dise ase Control and
Pre ve ntion. MMWR Mo rb Mortal Wkly Re p . 2012 Jun 1;59(53):1-111.)
incidence (1.7 to 14 cases/ 1 million people in 2008) in Upper

Midwest and Southeastern states (Figure 188-3). 1 ~ Francisella tularensis is the etiologic agent.
~ Approximately 2500 cases were reported in 2010.
~ Number of reported cases as well as size of endemic regions ~ Bartonella henselae is the etiologic agent.
appears to be growing with spread of tick vectors.
~ In the US, Streptobacillus moniliformis is the etiologic agent,
1
~ Rare; only 124 cases were reported in the US in 2010. whereas Spirillum minus is found in Asia.
~ Uncommon, although not routinely reported through National

Noti able Disease Surveillance System (NNDSS) at the Centers
RISK FACTO RS
of Disease Control and Prevention (CDC).
~ Rare, but not routinely reported to NNDSS. ~ Tick exposure in endemic areas and younger age are risk factors
for infection.
~ Exposure to infected rabbits, including skinning, is a risk factor
for infection.
~ Etiologic agent is Rickettsia rickettsii, which produces endothelial ~ Tick bite in endemic area is common mode of spread.
cell infection resulting in a systemic small-vessel vasculitis.
~ Ticks are the natural hosts, reservoirs and vectors. Rocky Moun- ~ Exposure to cats, particularly kittens, is the main risk factor.
tain wood ticks (Dermacentor andersoni) are the most common ~ Can occur following a recent scratch or bite.
vector for RMSF in Western North America (Figure 188-4). ~ About 20 to 30 percent of patients who have cat scratch disease
There are 3 other ticks that have been identi ed as vectors of have no cat or kitten exposure.
Rickettsia rickettsii in North America.
~ Infected rodents serve as vectors.
~ Etiologic agents are obligate intracellular gram-negative bacteria ~ May also be acquired from ingestion of unpasteurized milk,
Ehrlichia chaffeensis, E. ewingii, and Anaplasma phagocytophilum, water or other food contaminated with S. moniliformis (Haverhill
which have tropisms for different white blood cells. fever).
PART 16
ZO O NO SES 1101
B
FIGURE 188-3 A. Ehrlichiosis. Number of rep orte d case s, by county, US, 2010. Anap lasma p hag ocytop hilia and
B. Ehrlichia chag gee nsis (Use d with permission from the National Noti ab le Disease Surve illance System, Centers
for Disease Control and Pre ve ntion. MMWR Morb Mortal Wkly Re p . 2012;59(53):1-111.)
DIAGNO SIS I Serological evidence of a fourfold change in immunoglobulin G

(IgG)-speci c antibody titer reactive with R. rickettsii or other
spotted fever group antigen by indirect immuno uorescence
~ De nitive diagnosis is dif cult, as there are no widely available assay (IFA) between paired serum specimens (one taken
sensitive laboratory assays to con rm the diagnosis. in the rst week of illness and a second 2 to 4 weeks later).,
~ Treatment should be presumptive, pending testing results, as a OR
delay in therapy is associated with a poor outcome. 4 I Detection of R. rickettsii or other spotted fever group DNA in a
~ A con rmed case, as de ned by the CDC, 4 includes the appropri- clinical specimen (skin biopsy) via ampli cation of a speci c target
ate clinical symptoms and: by polymerase chain reaction (PCR) assay, or demonstration of
PART 16
1102 CHAPTER 188
FIGURE 188-4 Rocky Mountain wood ticks (De rmace ntor and e rsoni). A North Ame rican ve ctor of Ricke ttsia ricke ttsii, the e tiolog ic ag e nt of
Rocky Mountain sp otte d fe ve r. Note the smalle r size of the fe male ’s scutum (shie ld ) comp are d to the male ’s larg e r scutum. The dorsal shie ld
cove rs only a small p art of the fe male ’s d orsal surface e nab ling he r ab d ome n to e xp and and b e coming e ng org e d d uring fe e d ing . (Use d with
p e rmission from CDC/ Dr. Christop he r Pad d ock.)
spotted fever group antigen in a biopsy or autopsy specimen by illness) can con rm the diagnosis. However, this is not helpful in
Immunohistochemical staining, OR acute clinical management because of the delay in diagnosis.
I Isolation of R. rickettsii or other spotted fever group rickettsia ~ A presumptive diagnosis of tularemia can be made when there is:
from a clinical specimen in cell culture. I Evidence of an elevated serum antibody titer to F. tularensis
antigen without evidence of a four-fold increase, 5 OR
~ A con rmed case, as de ned by the CDC, 4 includes the appropri- I A positive result using direct uorescent antibody, immunohis-
ate clinical symptoms and: tochemical staining, or PCR.
I Serological diagnosis with a fourfold change in speci c anti-
body titers between acute (at illness onset) and convalescent ~ The diagnosis is usually con rmed by demonstrating serological
sera (4 weeks after illness), OR evidence of antibodies to Bartonella antigens using an indirect
I Detection of Ehrlichia or Anaplasma DNA in a clinical specimen immuno uorescent antibody (IFA) assay. 6
via PCR assay, OR ~ PCR of body uids is available at CDC or reference laboratories.
I Demonstration of Ehrlichia antigen in a biopsy or autopsy sam-
ple by immunohistochemical methods, OR
I Isolation of E. chaffeensis from a clinical specimen in cell culture.
~ A probable case, as de ned by the CDC, 4 includes:
I Presence of morulae (clusters of phagocytized ehrlichial organ-
isms in vacuoles) in cytoplasm of peripheral blood granulo-
cytes, monocytes, or macrophages (Figure 188-5), OR
I Serologic evidence of IgG or IgM reactive to Ehrlichia antigen
by IFA, enzyme-linked immunosorbent assay (ELISA), dot-
ELISA, or assays in other formats.
~ Growth of the organism in culture is de nitive.

I Appropriate specimens include swabs or scrapping of skin
lesions, lymph node aspirates or biopsies, pharyngeal washings,
sputum specimens, or gastric aspirates, depending on the form
of illness.
I Paradoxically, blood cultures are often negative.
FIGURE 188-5 Pe rip he ral b lood sme ar showing intrale ukocytic moru-
~ Serological diagnosis with a fourfold change in speci c antibody titers lae in g ranulocytic ce ll. This is sup p ortive e vid e nce of the d iag nosis of
between acute (at illness onset) and convalescent sera (4 weeks after Ehrlichiosis. (Use d with p e rmission from Camille Sab e lla, MD.)
PART 16
ZO O NO SES 1103
~ Histopathologic evidence of organisms on Warthin-Starry silver

staining is not speci c for B. henselae infection.
I The diagnosis of S. moniliformis infection is made via culture of

blood, synovial uid, or other body uids using speci c media;
cultures should be held for 3 weeks because of the slow growth
of this agent.
I The diagnosis of S. minus infection is made with dark eld
microscopy of blood or infected body uids.
CLINICAL FEATURES
~ Fever, headache, malaise, myalgias, nausea, and vomiting are the

initial symptoms.
~ These symptoms are followed several days later by a maculopap-
ular rash that evolves into petechial rash (late nding), spreading
from the extremities (wrists/ ankles) centrally (Figure 188-1). FIGURE 188-7 Cat-scratch ad e nitis with ce ntral uctuance . (Use d with
~ If untreated, RMSF progresses to involve the central nervous, p e rmission from Camille Sab e lla, MD.)
renal, cardiac, pulmonary, and gastrointestinal systems, and
often includes disseminated intravascular coagulation and shock.
~ Delays in therapy are associated with increased risk of death. I Oropharyngeal.
I Intestinal.
I Pneumonic.
~ Fever, headache, malaise, and myalgia are the most common
features.
~ Vomiting, abdominal pain, and arthralgia are less common. ~ Regional lymphadenopathy with overlying erythema, tenderness,
~ Rash occurs less frequently than with RMSF, but is more com- warmth, and induration is the most common presentation
mon in children than adults. (Figure 188-7).
~ A primary papule at the inoculation site may be present at diagnosis
(Figure 188-8).
~ There are multiple syndrome pro les depending on the site of ~ Less common presentations including fever of unknown origin,
inoculation:
hepatitis, splenic calci cations, neuroretinitis, and aseptic
I Ulceroglandular (ulceration at inoculation site followed
meningitis. 7,8
by healing and localized regional lymphadenopathy; ~ Parinaud oculoglandular syndrome with conjunctivitis and ipsi-
Figure 188-6).
lateral preauricular lymphadenopathy is a distinctive manifesta-
I Glandular (without ulceration).
tion (Figure 188-9).
I Oculoglandular.
~ Abrupt onset of fever, malaise, myalgia with swelling, erythema,
and purulence from the inoculation site are common manifes-
tations.
FIGURE 188-6 Ulce ration with e schar at the site of inoculation with
re g ional lymp had e nop athy. This is characte ristic of the ulce ro g land ular FIGURE 188-8 Cat-scratch ad e nitis. Note the p rimary p ap ule at the
p re se ntation of tulare mia or cat scratch ad e nitis. (Use d with p e rmission inoculation site with ad jace nt ad e nitis. (Use d with p e rmission from
from Charle s B. Foste r, MD.) Johanna Gold farb , MD.)
PART 16
1104 CHAPTER 188
FIGURE 188-10 Maculop ap ular and p e te chial rash in 9-ye ar old g irl
who d e ve lop e d rat-b ite fe ve r afte r b e ing b itte n b y he r p e t rat. Inocula-
tion site with swelling and e rythema see n on the ind ex nge r. (Used with
p ermission from Camille Sabella, MD.)
ADDITIO NAL LABO RATO RY FINDINGS
hepatic transaminases are common laboratory ndings in RMSF,

but may not be apparent until later in the course of the illness.
hepatic transaminases are common ndings in Ehrlichiosis.
IMAGING
~ Ultrasound is often utilized to assess for suppuration of lymph

nodes in patients who are suspected of having cat scratch disease.
~ Ultrasound or Computed Tomography of the liver and spleen may
demonstrate granulomatous lesions in patients with cat scratch dis-
ease. These patients may present with fever of unknown origin. 8

B -
cussed may mimic the rash of Meningococcemia, Kawasaki, Rubeola
FIGURE 188-9 Parinaud oculog land ular synd rome with (A) conjuncti-
vitis and (B) p re -auricular lymp had e nitis. This child had cat scratch d is- (measles), and Henoch Schonlein Purpura (see Chapters 177,
e ase , p rove n b y se rolog y, b ut the d iffe re ntial d iag nosis includ e s tulare - Kawasaki Disease, Chapter 111, Measles, and Chapter 175, Henoch
mia, ad e novirus and H in ue nzae infe ction. (Use d with p e rmission from Schonlein Purpura). The epidemiology and route of acquisition of
Camille Sab e lla, MD. From Sab e lla C, Cunning ham RJ III. Inte nsive
Re vie w of Pe d iatrics, 4th e d ition. Lip p incott Williams Wilkins, p 448, the zoonoses serve as important clues in differentiating these entities.
Fig ure 53-2, 53-3.) -
times dif cult to differentiate from other causes of lymphadenitis,
~ A maculopapular or petechial rash spreading from extremities such as pyogenic (Staphylococcal and streptococcal), mycobac-
(palms/ soles) centrally is most common (Figure 188-10). terial, and toxoplasma infections. A thorough history of exposures
~ Fifty percent of patients develop migratory polyarthritis after the and the nding of an inoculation site can be helpful in the diagnosis
rash has appeared when due to S. moniliformis infection; arthritis of cat scratch disease and tularemia.
is uncommon in S. minus infections.
~ A relapsing course over several weeks can occur in untreated (named after Henri Parinaud) includes tularemia, cat-scratch
patients. disease, adenovirus, and H. in uenzae infection. A thorough expo-
~ Complications include septic arthritis, endocarditis, meningitis sure history and appropriate diagnostic cultures for adenovirus and
and abscesses. 9 H in uenzae can help to differentiate these infections.
PART 16
ZO O NO SES 1105
MANAGEMENT PREVENTIO N AND SCREENING
zoonoses such as rat bite fever, cat scratch disease, and tularemia.
is essential.
at-risk areas will help prevent tick-borne infections.
management is aimed at symptom relief.
is recommended.
expel its contents into the patient during removal. -
mal contacts is important in decreasing the risk of infection.
MEDICATIO NS
PRO GNO SIS
~ Doxycycline is the drug of choice for all patient with these infec-
tions, including those who are less than 8 years of age. 10 SO R
~ A delay of disease suspicion and treatment after the fth day of
illness is association with an increased risk of death. 15,16
~ Gentamicin or streptomycin for 10 days is the recommended
treatment of choice for tularemia. 11 SO R
~ Alternatively, doxycycline for 14 days can be given for patients ~ The case fatality rate is reported to be from 1 to 3 percent
8 years of age and older who do not have severe illness. (E. chaffeensis) to < 1 percent (A. phagocytophilum), although this
may be overestimated because many individuals who are infected
are asymptomatic. 17
~ Azithromycin may decrease the size of lymphadenopathy in the
rst month of therapy, but does not impact the overall out-
come. 12 SO R ~ Suppuration of lymph nodes may occur despite adequate therapy.
~ Antimicrobial therapy may hasten recovery of systemic manifes-
tations, such as hepatic or splenic granulomas, and in immuno- ~ Lymphadenopathy is usually self-limited and resolves over 1 to
compromised hosts, 13 although the role of such therapy in these 2 months.
patients is not clear. SO R ~ Suppuration of lymph nodes may occur in up to 25 percent of cases.
~ Azithromycin, gentamicin, cipro oxacin, trimethoprim-
sulfamethoxazole, and rifampin are possible treatment options ~ The course of rat bite fever can be rapid and fatal.
for these patients. SO R
PATIENT EDUCATIO N
~ Penicillin G for 7 to 10 days is the treatmentof choice. 14 SO R
14
~ Four weeks of penicillin G recommended for endocarditis.
Parents should seek medical attention if symptoms of infection
~ Doxycycline, gentamicin, or streptomycin recommended for
develop after zoonotic exposures.
those with severe penicillin allergy.

www.cdc.gov.
~ Needle aspiration of the involved lymph node(s) can be per- Offers many resources on zoonoses including the following:
formed for symptom relief. SO R
~ www.cdc.gov/
~ Incision and drainage of the involved lymph node(s) may result rmsf/ .
in the development of a draining sinus, and is not recommended.
~ http:// www.cdc.gov/ healthypets/ .
SO R PRO VIDER RESO URCES
~ Surgical excision is rarely necessary for enlarged lymph nodes but www.cdc.gov.
if performed, should be undertaken prior to the development of
spontaneous drainage, if possible. SO R
www.cdc.gov/ mmwr.
REFERRAL
wwwn.cdc.gov/ nndss.
management of zoonoses, depending on the speci c infection and

Kimberlin DW, Long SS, eds. Red Book: 2012 Report of the
the severity of the manifestations.
Committee on Infectious Diseases. Elk Grove Village, IL: American
Academy of Pediatrics; 2012.
drainage of a pyogenic focus of infection may be required.
PART 16
1106 CHAPTER 188
REFERENCES 10. American Academy of Pediatrics. Rocky Mountain Spotted Fever.

1. Centers for Disease Control and Prevention (CDC). MMWR Morb Red
Mortal Wkly Rep. 2012;59(53):1-111. Book: 2012 Report of the Committee on Infectious Diseases. Elk Grove
Village, IL: American Academy of Pediatrics; 2012:623-625.
spotted fever in the United States 1993-1996. Am J Trop Med Hyg. 11. American Academy of Pediatrics. Tularemia. In: Pickering LK,
2000;63:21-26. Red Book: 2012 Report of
the Committee on Infectious Diseases. Elk Grove Village, IL: American
Academy of Pediatrics; 2012:768-769.
spotted fever in the United States, 1997-2002. Vector Borne
Zoonotic Dis. 2006;6:170-178.
double blind placebo-controlled evaluation of azithromycin for
4. Centers for Disease Control and Prevention. Diagnosis and
treatment of cat-scratch disease. Pediatr Infect Dis J. 1998;17:
management of tickborne rickettsial diseases: Rocky Mountain
147-152.
practical guide for physicians and other health care and public
health professionals. MMWR Morb Mortal Wkly Rep. 2006;
55(RR-4):1-29. eds. Red Book: 2012 Report of the Committee on Infectious Diseases.
Elk Grove Village, IL: American Academy of Pediatrics; 2012:
269-271.
Manual of Clinical Microbiology,
8th ed. Washington, DC; American Society for Microbiology;
2003:789-808. Red Book: 2012 Report
of the Committee on Infectious Diseases. Elk Grove Village, IL: American
6. Murakami K, Tsukahara M, Tsuneoka H, et al. Cat scratch disease:
Academy of Pediatrics; 2012:608-609.
analysis of 130 seropositive cases. J Infect Chemother. 2002;8:686-691.
7. Arisoy ES, Correa AG, Wagner ML, et al. Hepatosplenic cat-
mortality in cases of rocky mountain spotted fever. Clin Infect Dis.
scratch disease in children: selected clinical features and treat-
1995;20(5):1118.
ment. Clin Infect Dis. 1999;28:778-784.
-
Bartonella henselae as a cause of prolonged
oratory features, hospital course, and outcome of rocky mountain
fever and fever of unknown origin in children. Clin Infect Dis.
spotted fever in children. J Pediatr. 2007;150(2):180.
1998;26:80-84.
Clin
9. Hagelskjaer L, Sorensen I, Randers E. Streptobacillus moniliformis
Infect Dis. 2000;31(2):554.
infection: 2 cases and a literature review. Scand J Infect Dis.
1998;30:309.
PART 17
ENDO CRINO LO GY
St re ng t h o f
(SO R) De nit io n

PART 17
1108 CHAPTER 189
ENDO CRINO LO GY
189 DIABETES O VERVIEW SYNO NYMS

Tod d D. Ne b e sio, MD
T1DM has also been called insulin-dependent diabetes, juvenile-onset
diabetes, and immune-mediated diabetes.
PATIENT STO RY
EPIDEMIO LO GY
A 7-year-old girl presents with increased thirst and urination over the
last 2 weeks. Despite previously being dry at night, she has wet the
for unknown reasons.
bed a few times over the past week. She has not been ill and has had a
good appetite. She has had no abdominal pain or vomiting. Physical
examination is remarkable for dry, tacky oral mucous membranes. type 2 diabetes (T2DM), cystic brosis related diabetes (CFRD),
Her weight is down 3 kg since her last well-child visit. A blood sugar steroid-induced diabetes, and rare genetic forms of diabetes. 1
is checked (Figure 189-1) on a meter and is “high” or too elevated to
be read by the meter. A urinalysis shows positive glucose and ketones 3 per 1,000 individuals. 2
in his urine. A basic metabolic pro le reveals sodium of 131 mEq/ L,
bicarbonate of 20 mEq/ L, and plasma glucose of 652 mg/ dL. Hemo-
globin A1c is 10.8 percent. She is admitted to the hospital with the
start school (4 to 6 years) and early adolescence (10 to 14 years).
diagnosis of new onset diabetes. She is treated with intravenous uids
and insulin. While in the hospital, she is started on SQ insulin injec-
tions and she and her family receive diabetes education. With her age, rise in childhood obesity. T2DM most often occurs in pubertal
the patient most likely has type 1 diabetes mellitus (T1DM). adolescents.
INTRO DUCTIO N ETIO LO GY AND PATHO PHYSIO LO GY

The classic symptoms of new onset diabetes are polydipsia, polyuria,
and unexpected weight loss. resulting in absolute insulin de ciency.
RISK FACTO RS
mother with T1DM. 2
insulin resistance are common risk factors for T2DM.
DIAGNO SIS
CLINICAL FEATURES
features of new onset diabetes.
features include nausea, vomiting, abdominal pain, mental status
sign of insulin resistance seen in T2DM and obese individuals

(Figure 189-2
FIGURE 189-1 Blo od sug ar te sting in a g irl with susp e cte d d iab e te s. defects in insulin action can result in extreme insulin resistance
(Use d with p e rmission from Tod d D. Ne b e sio, MD.) (Figure 189-3).
PART 17
DIABETES O VERVIEW 1109
ENDO CRINO LO GY
FIGURE 189-2 Acanthosis nig ricans on the ne ck of an ob e se African

Ame rican te e nag e r with insulin re sistance . (Use d with p e rmission from
Tod d D. Ne b e sio, MD.)
(Figure 189-4).
diabetes and a random plasma glucose ≥200 mg/ dL, a fasting plasma
glucose ≥126 mg/ dL, a 2-hour plasma glucose ≥200 mg/ dL
FIGURE 189-4 A. Ne crob iosis lip oid ica d iab e ticorum (NLD) in an ad o-
le sce nt g irl with typ e 1 d iab e te s. Althoug h rare , it commonly occurs
along the p re tib ial re g ion of the lowe r le g s. B. Close r vie w of NLD on
he r rig ht le g . (Use d with p e rmission fro m Tod d D. Ne b e sio, MD.)
≥6.5 percent (3). If there are no classic symptoms of hyperglycemia,

testing needs to be repeated on a second day.
higher risk of developing diabetes in the future.

FIGURE 189-3 Se ve re insulin re sistance and acanthosis nig ricans in a
child with Rab son-Me nd e nhall synd rome , which is d ue to d e fe cts in the
insulin receptor gene. (Used with permission from Tod d D. Neb esio, MD.)
PART 17
1110 CHAPTER 189
ENDO CRINO LO GY
new onset patients with T1DM can be obese, which confuses the
diagnosis between T1DM versus T2DM. 4,5
increase in the plasma glucose above 100 mg/ dL, a 1.6 mEq/ L
decrease occurs in the measured serum sodium level.
which is the most common cause of death in children with T1DM.
-
sis is typically straightforward. However, differentiating the type of
diabetes can sometimes be dif cult.
insipidus, psychogenic, hypercalcemia, hypokalemia, and hyperthy-

roidism.
MANAGEMENT
NO NPHARMACO LO GIC
FIGURE 189-5 Evid e nce of b lood sug ar te sting at the e nd s of the
ng e rs in a te e n with typ e 1 d iab e te s. (Use d with p e rmission from
normal weight and growth. Tod d D. Ne b e sio, MD.)
speci cally before meals and at bedtime (Figure 189-5).
elevated or the patient is sick, feels nauseated, or is vomiting, or

has abdominal pain.
MEDICATIO NS
sites, including the arms, thighs, abdomen, hips, and buttocks, need
to be rotated to avoid localized areas of hypertrophy (Figure 189-6).
correction of the blood sugar to a certain goal level.

-
presses ketone body production.
CO MPLIMENTARY THERAPY
a pump site that is changed every 2 to 3 days (Figure 189-7).
FIGURE 189-6 Re p e ate d insulin inje ctions in the same location on the
and a positive family history of T2DM, lifestyle intervention can arm can cause hyp e rtrop hy, which re sults in slow and e rratic insulin
prevent the development of T2DM. ab sorp tion. (Use d with p e rmission from Tod d D. Ne b e sio, MD.)
PART 17
DIABETES O VERVIEW 1111
ENDO CRINO LO GY
shortly after diagnosis of T2DM.

-
tension, dyslipidemia, microalbuminuria, psychiatric disorders
(e.g., depression and eating disorders), hepatic steatosis (in
T2DM), and hypothyroidism and celiac disease (in T1DM).
PATIENT EDUCATIO N
prevent and control the onset and course of T2DM.
nutrition, exercise, and blood sugar testing.
PATIENT RESO URCES

www.childrenwithdiabetes.com.
www.jdrf.org.
www.diabetes.org.

www.cdc.gov/ diabetes/ projects/ cda2.htm.
FIGURE 189-7 An insulin pump site. At the top is where a previous pump
site was place d . (Use d with p e rmission from Tod d D. Ne b e sio, MD.)
-
public health perspective. J Pediatr
developing T2DM should begin at 10 years or at the onset of

puberty and then every 3 years. 6 REFERENCES
Curr Opin
Endocrinol Diabetes Obes.
PRO GNO SIS
2. Cooke DW, Plotnick L. Type 1 diabetes mellitus in pediatrics.
6,7 Pediatr Rev.
3. American Diabetes Association. Diagnosis and classi cation of
diabetes mellitus. Diabetes Care.
potentially lead to neuropsychological impairment. 7
diagnosis and treatment of diabetes in children. Pediatrics.

from not taking their insulin injections.
-
-
lems, nephropathy, retinopathy, and neuropathy. 2,5,7 Diabetes
Pediatr
complications are decreased with intensive therapy and improved
Diabetes.
blood sugar control. 8
6. American Diabetes Association. Standards of medical care in
diabetes—2013. Diabetes Care.
most commonly thyroid disease and celiac disease.
adolescents with type 1 diabetes. Diabetes Care.

FO LLO W-UP 8. The Diabetes Control and Complications Trial (DCCT) Research
-
opment and progression of long-term complications in insulin-
every 3 months at clinic visits. dependent diabetes mellitus. N Engl J Med.
PART 17
1112 CHAPTER 190
ENDO CRINO LO GY
190 ACANTHO SIS

NIGRICANS
PATIENT STO RY
A 10-year-old girl with obesity and recently diagnosed type II diabe-

tes mellitus (DM) presents to her pediatrician with concerns about
a “dirty area” under her arms and on her neck that “couldn’t be
cleaned” (Figure 190-1). The pediatrician makes the diagnosis of
acanthosis nigricans and explains to the mother the importance of
weight loss, good diet, and exercise. She uses this as a teachable
moment to explain how the obesity and diabetes are adversely affecting FIGURE 190-2 Acanthosis nig ricans on the ne ck and in the axilla of an
the daughter and how this is visible on the skin. The role of genetics ove rwe ig ht 13-ye ar-old Hisp anic fe male with insulin re sistance , hirsut-
is discussed too but there is emphasis on the risk factors that can be ism, and se cond ary ame norrhe a. She was d iag nose d with HAIR-AN
synd rome and tre ate d accord ing ly. (Use d with p e rmission from Richard
altered. P. Usatine , MD.)
INTRO DUCTIO N
resistance and usually seen in patients with endocrine disorders percent of black and Hispanic children with diabetes. 4
(e.g., type 2 DM, Cushing syndrome, acromegaly), obesity, and -
polycystic ovary syndrome. genic sarcoma. 4
-
EPIDEMIO LO GY notype of the polycystic ovary syndrome (Figure 190-2). It is
one of the most common causes of menstrual problems, hyper-
androgenic symptoms, and insulin resistance among adolescent
patients.
of children and 21 percent of adults. 1 clinic, the mean age of affected patients was 15.5, initial mean weight
is an indicator of insulin sensitivity independent of body mass index

4
other autoimmune diseases. 4
their surface and the pathogenesis of this condition is linked to

insulin binding to insulin-like growth receptors in the epidermis.
FIGURE 190-1 Acanthosis nig ricans in the le ft axilla of an ove rwe ig ht

Hisp anic 10-ye ar-old g irl. Note are as of d ark ve lve ty d iscoloration
and p ink liform hyp e rtrop hy. (Use d with p e rmission from Richard P. dysplasia (e.g., thanatophoric dysplasia, severe achondroplasia with
Usatine , MD.)
PART 17
ACANTHO SIS NIGRICANS 1113
ENDO CRINO LO GY
10
Insulin receptor mutations have
also been described. 4
peptides that enhance proliferation of transforming growth factor-a

and epidermal growth factor. 4
DIAGNO SIS
CLINICAL FEATURES
velvety lesions to leathery verrucous papillomatous lesions

(Figures 190-1 to 190-6). FIGURE 190-4 Acanthosis nig ricans on the ne ck of a 15-ye ar-old
ob e se Hisp anic male . (Use d with p e rmission from Richard P. Usatine ,
MD.)
(e.g., increased body hair in male distribution, enlarged clitoris) in
Figures BIO PSY

190-3 and 190-4) and hypertension. 11
-
TYPICAL DISTRIBUTIO N trophy, although the epidermis is only mildly thickened.
Figures 190-4 to 190-6) or skin
Figures 190-1 to 190-3
groin, and perineum). DIFFERENTIAL DIAGNO SIS
and extensor surfaces of the legs.
Dermatitis).
distribution of lesions is more widespread and may include the
periorbital skin and the palms and soles. 12
FIGURE 190-5 Acanthosis nig ricans on ne ck of a 12-ye ar-old African

Ame rican b oy with a strong family history of d iab e te s. Note that this
FIGURE 190-3 Acantho sis nig ricans in the axilla of an 11-ye ar-old child is not ove rwe ig ht and curre ntly d oe s not have d iab e te s. The
ob e se Hisp anic g irl. (Use d with p e rmission from Richard P. Usatine , acanthosis nig ricans make s the ne ck ap p e ar d irty b ut this child has ve ry
MD.) g ood hyg ie ne . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 17
1114 CHAPTER 190
ENDO CRINO LO GY
oral contraceptive pills, and metformin (in most cases) in one large
series. All the girls who took their oral contraceptive pills began to
improved or remained unchanged. Only 20 percent of the adoles-

cents had improvement in their acanthosis nigricans with treatment.
CO MPLEMENTARY AND ALTERNATIVE THERAPY
SO R
PRO GNO SIS
However, in one series

FIGURE 190-6 Acantho sis nig ricans on the ne ck of a 15-ye ar-old b oy
with no ob e sity or d iab e te s. His mothe r has ve ry p romine nt acanthosis had improvement in their acanthosis nigricans with treatment.
nig ricans. (Use d with p e rmission from Richard P. Usatine , MD.)
PATIENT EDUCATIO N
greater body distribution including palmar and plantar keratoderma
and resolution in the summer months. 4
- through diet and exercise because weight loss may help diminish
pathological evidence of both lesions (see Chapter 145, Epidermal this condition.
-
mal nevi). 14
PATIENT RESO URCES
MANAGEMENT www.nlm.nih.gov/ medlineplus/ ency/ article/ 000852
.htm.
NO NPHARMACO LO GIC
lipid screening should be considered along with consideration of
testing for DM. There is controversy about whether children Disease Prevention and Health Promotion of the Centers for
Disease Control and Prevention—www.cdc.gov/ diabetes/
news/ docs/ an.htm.
15
and the Centers for Disease Control and Prevention
Pediatrics recommends screening children with obesity for hyper-

lipidemia and hyperglycemia. REFERENCES
-
linemia and can improve the condition in obese patients. southwestern US primary care practices. Ann Fam Med.
202-208.
-
4
acanthosis nigricans in newly-diagnosed type 2 diabetes. Endocr
MEDICATIO NS Pract.
appearance. Other topical therapies, including 0.1 percent treti-

noin cream (to lighten the lesion), combination tretinoin cream adolescents. Acta Paediatr.
with 12 percent ammonium lactate cream, or topical vitamin D J Am Acad
ointments, may be useful. SO R Dermatol
18
SO R
PART 17
ACANTHO SIS NIGRICANS 1115
ENDO CRINO LO GY
- Endocrinol
Metab Clin North Am.
-
- tal acanthosis nirgricans form of epidermal nevus. Dermatol Online
drome. Scienti cWorldJournal J
-
remission in a 15-year-old girl. J Am Acad Dermatol American children for diabetes risk. J Natl Med Assoc
nigricans. Br J Dermatol. prevention, assessment, and treatment of child and adolescent

Pediatrics
mutation, acanthosis nigricans, hypochondroplasia and

hyperinsulinemia and review of the literature. Dermatology. -
ment. Am J Clin Dermatol.
-
nigricans and insulin sensitivity in patients with achondroplasia sis nigricans under prolonged metformin treatment in an adoles-
J Clin Endocrinol cent with normal weight. J Endocrinol Invest.
Metab
Arch Dermatol.
pressure, body mass index and acanthosis nigricans in school-age
children. J Sch Nurs
axillae using a long-pulsed (5-msec) alexandrite laser. Dermatol
II. Am Fam Physician. Surg.
PART 17
1116 CHAPTER 191
ENDO CRINO LO GY
191 HYPO THYRO IDISM hypothyroidism in both children and adults is chronic lymphocytic
(Hashimoto) thyroiditis, also called autoimmune thyroiditis. 1
function and thyroid hormone production that is present at birth.
Historically this was due to lack of iodine. In iodine-replete coun-
-
PATIENT STO RY opment (e.g., congenitally absent, underdeveloped, or ectopic thy-
roid gland). Other causes include inherited enzymatic defects in the
A 6-week-old girl, who was born at home and was not screened at synthesis of thyroxine (T4), prematurity, and anti-thyroid drugs
birth for congenital hypothyroidism, presented to her pediatrician taken during pregnancy.
with signs of jaundice and was found to be hypothyroid with an ele-
vated TSH (Figure 191-1). She was started on levothyroxine and her diffuse enlargement to nodular enlargement depending on the
dose was titrated until her TSH was normal. At her 1 year old visit cause. In the US, the most common cause of goiter with normal
she was a normal healthy child with a normal developmental exam. thyroid function or transient dysfunction is thyroiditis.
thyroid-related symptoms but abnormal laboratory values (elevated

INTRO DUCTIO N TSH and thyroxine level within the normal range).
and usually develops as a result of thyroid failure from intrinsic thy- EPIDEMIO LO GY
roid disease. The most common cause of nonendemic goitrous
-
thyroidism in children (< 22 years of age) is 0.135 percent; the
prevalence is 0.113 percent in children aged 11 to 18 years. 2 These
values are twice those of previous estimates. The most common
cause of acquired hypothyroidism was autoimmune disease.
female to male ratio of 2: 1. It is the most preventable cause of cog-

nitive impairment in children. 3
(1 per 918 in Northern England). 4,5
rose from 2.6 to 3.6 per 10,000 live births over an 18-year period
thought to be due to a shift in population with proportionately
more Asian and Paci c Island births. 6
rates of 4 to 15 percent in areas of adequate iodine intake and more

than 90 percent where there is iodine de ciency. 7 Endemic goiter is
de ned as goiter that affects more than 5 percent of the population
(Figure 191-1).
-
cent of the population. Among adolescents, the incidence of Hashimoto
thyroiditis during adolescence is approximately 1 to 2 percent. 3
groups. 8,9
are higher for children with certain conditions including Down syn-
drome (10.8% of children with Down syndrome in one 11-year
population study lled a new prescription for thyroid medica-
tion), 10 Turner syndrome, type 1 diabetes mellitus (7.2% of chil-
dren in one study had subclinical hypothyroidism), 11 celiac disease,
FIGURE 191-1 Cong e nital hyp othyroid ism in a 6-we e k-old g irl with
sig ns of jaund ice and an e le vate d TSH. (Use d with p e rmission from the were iodine de cient and 11.6 percent had subclinical hypothyroid-
CDC/ Dr. Hud son.) ism). 12 Autoimmune thyroid disease is also more common in
PART 17
HYPO THYRO IDISM 1117
ENDO CRINO LO GY
individuals with vitiligo. In a recent report of 104 Iranian children

age 5 to 15 years referred with migraine headache, 24 percent had
subclinical hypothyroidism. 13
Hypothyroidism can be caused by disease of the thyroid gland itself

(e.g., Hashimoto thyroiditis or thyroid dysgenesis), treatment of
hyperthyroidism (e.g., anti-thyroid medication or radioiodine thyroid
ablation in the patient or mother during pregnancy, or thyroidec-
tomy), high-dose head and neck radiation therapy, medications (e.g.,
lithium or alpha-interferon) or, rarely, by pituitary or hypothalamic
disorders (e.g., tumors, in ammatory conditions, in ltrative dis-
eases, infections, pituitary surgery, pituitary radiation therapy, and
head trauma). 8
Hashimoto thyroiditis is caused by thyroid peroxidase (TPO)
FIGURE 191-2 Goite r d e ve lop ing in a 12-ye ar-old g irl in an e nd e mic
antibodies. are a for g oite rs. (Use d with p e rmission fro m Richard P. Usatine , MD.)
-
- DIAGNO SIS
ing in congenitally absent, underdeveloped, or ectopic thyroid
gland (85%); inherited enzymatic defect in the synthesis of thyrox- CLINICAL FEATURES
ine (T4) caused by an autosomal recessive gene (10%); abnormal
function of hypothalamus or pituitary, or thyroid hormone resis-
diagnosis. 15 3
:
scintiscan of which 67 percent showed thyroid dysgenesis (female

to male ratio 5:1), and 33 percent demonstrated dyshormonogen-
esis (female to male ratio 0.9:1.0). 6 Figure 191-4).
TSHR was found to be the main causative locus in autosomal reces-

sively inherited thyroid dysgenesis. 14
drugs taken during pregnancy, prematurity, and iodine de ciency

or excess.
α -interferon.
RISK FACTO RS
Other risk factors for hypothyroidism include2:

FIGURE 191-3 Massive g oite r in an Ethiop ian woman who live s in an
e nd e mic are a for g oite rs. Many ad ults have larg e g oite rs in Ethiop ia
whe re the re is little iod ine in the ir d ie ts. (Use d with p e rmission from
PART 17
1118 CHAPTER 191
ENDO CRINO LO GY
FIGURE 191-4 Myxe d e ma with p uf ne ss of the face , d ry skin, some

hair loss of the scalp , and e ye b rows. (Use d with p e rmission from the
Unive rsity of Te xas He alth Scie nce s Ce nte r, Division of De rmatolog y.)
B
FIGURE 191-5 Cong e nital hyp othyroid ism in a 3-ye ar-old child in
Pe ru. The child was d e ve lop me ntally d e laye d and was not d iag nose d
until a me d ical mission te am p rovid e d acce ss to he alth care for this
child . A. Note the p uf ne ss of the che e ks and the incre ase d facial hair
on the fore he ad . B. Note the p e rsiste nt umb ilical he rnia and the fact
that the child is still in d iap e rs. (Use d with p e rmission from Sang e e ta
Krishna, MD.)
16
defects, or ophthalmoplegia. 8
3 3
Figures
manifestations. 191-2 and 191-3). In a case series of children with autoimmune
thyroiditis (N = 61), the vast majority of patients had a goiter;
approximately half were euthyroid (N = 29), nine had hypothy-
roidism and seven had hyperthyroidism. 17
extension (Figure 191-6), observation from the side, palpation by

locating the isthmus rst, and having the patient swallow. 18
Figure 191-5).
PART 17
ENDO CRINO LO GY
of antibodies helps to con rm this diagnosis.
cystic and may be uctuant; focal (e.g., erythema and warmth) and
systemic symptoms of infection (e.g., fever) may be present. Even
a noninfected thyroglossal duct cyst can be confused for an enlarged
thyroid.
and warmth) and systemic symptoms of infection (e.g., fever) are

usually present.
Painless goiter and hypothyroidism are most often caused by
Hashimoto thyroiditis, but may also be caused by the following:
FIGURE 191-6 Child with g oite r and kwashiorkor (p rote in malnutri- cassava, cabbage, and soybeans).
tion) in Africa. Note how the g oite r is e asily visib le whe n she e xte nd s
he r ne ck. (Use d with p e rmission from Richard P. Usatine , MD.)
-
rone, and interferon-α .
LABO RATO RY AND IMAGING STUDIES
Painless goiter and hyperthyroidism may be caused by the following:
Laboratory tests include an erythrocyte sedimentation rate (ESR) if
thyroiditis is suspected, and TSH (elevated in hypothyroidism and
4 levels (low in hypothyroidism).
Hyperthyroidism).
4 are usually normal.
- MANAGEMENT
mune thyroiditis are euthyroid at diagnosis. 15,17
NO NPHARMACO LO GIC
the diagnosis of Hashimoto thyroiditis but is unnecessary for treat-
ment. TPO antibodies will be positive in 90 to 95 percent of adult
patients and the majority of children. 3,15 MEDICATIO NS
function testing is a matter of urgency. 19 SO R SO R
with ultrasound will identify thyroid dysgenesis (accounts for 85% euthyroidism by treating with levothyroxine. 3 SO R Dose ranges
of cases). Radionuclide scintigraphy is considered the ‘gold standard’
for visualizing ectopic thyroid tissue. In one study (N = 174 screen-
ing-referred infants),151 had normally located thyroid on scintigra-
10 to 18 years. 3 Dosing should be titrated to achieve the treatment
76.8 to 99.7), and 99.3 percent speci c (95.8 to 100) for absence of goal of a normal TSH.
normal thyroid.20
euthyroidism. SO R In the rst year of life, target serum T4 level
4 will be low. 8
- T4
3
tion and reference limits have been shown to shift to higher concen- Oral levothyroxine is administered daily
21 -
of cognitive abilities. 3
DIFFERENTIAL DIAGNO SIS found only a single randomized clinical trial and therefor insuf -
cient evidence to support high versus low dose initial thyroid
replacement. 22 Parents can crush and mix tables with a small vol-
by subacute granulomatous (de Quervain) thyroiditis (likely viral) ume of human milk, formula, or water; soy formulas or prepara-
or hemorrhage into a thyroid cyst or adenoma. Other causes include tions containing concentrated iron or calcium should be avoided as
the following: they can reduce thyroxine absorption.
PART 17
1120 CHAPTER 191
ENDO CRINO LO GY
(Synthroid) performs better than generic medication in normalizing PREVENTIO N AND SCREENING
23,24
SO R Screening is done with TSH with backup

serum T4, primary T4 with backup TSH, or both tests in initial
systematic literature review, overt hypothyroidism is more likely
screening, optimally at 2 to 4 days of age.
to develop in children with goiter and elevated thyroglobulin
antibodies, children with celiac disease, and children demonstrat-
ing a progressive increase in thyroperoxidase antibodies and TSH an observational study of children with Down syndrome, early
value (see Prognosis);25 administration of levothyroxine for hypothyroidism appeared to
to predict subsequent hypothyroidism. improve growth. 31
~ It is reasonable to treat children at high likelihood of progression -
or if they have symptoms of thyroid de ciency or are preg- ism in pregnant and nonpregnant patients;32 however, pregnant
nant. 8,26 SO R patients with subclinical hypothyroidism are more likely to have
~ In children with subclinical hypothyroidism, an increased growth placental abruption (three-fold increase) and preterm delivery
velocity with treatment was observed in two studies and reduced (two-fold increase) and their infants are at higher risk for intraven-
thyroid volume was seen in 25 to 100 percent of children with tricular hemorrhage and respiratory distress syndrome. 33 Authors
subclinical hypothyroidism and autoimmune thyroiditis in two of a literature review found a single intervention trial demonstrat-
studies. 25 There were no observed effects on neuropsychological ing a decrease in preterm delivery among thyroid antibody-positive
functions (one study) or posttreatment evolution of hypothyroid- women treated with levothyroxine. 34
ism (one study). 25
~
- PRO GNO SIS

thyroidism did not improve survival or decrease cardiovascular
morbidity. 27 -
ter of Hashimoto thyroiditis and should be continued inde nitely.
in children and can be considered for the treatment of goiter In one study of adults, withdrawal of medication after 1 year
caused by autoimmune thyroiditis, even in children who are resulted in only 11.4 percent remaining euthyroid. 35
euthyroid. 28
- cognitive problems. 36
- reported health-related quality of life and self-worth were lower
tion cephalosporin) for 7 to 10 days against the most common than general population ratings, independent of disease factors, IQ
pathogens (i.e., Staphylococcus aureus, Streptococcus pyogenes, and and motor skills. 37
Streptococcus pneumoniae). In patients with subacute thyroiditis,
oral corticosteroids can reduce pain and swelling. SO R England), goiter was present in 15.5 percent of the population. 38
Symptoms of hyperthyroidism can be treated with β -blockers. At the 20-year follow-up, 20 percent of women and 5 percent of
SO R men no longer had goiter and 4 percent of women and no men had
acquired a goiter.
CO MPLICATIO NS AND REFERRAL -
cally overt hypothyroidism is 2.6 percent each year if TPO antibod-
medications can be treated with surgery. ies are absent and 4.3 percent if they are present. 39 In a review of
pediatric patients with subclinical hypothyroidism, most children
reverted to euthyroidism or remained with subclinical hypothyroid-
endocrinologist.
ism; overt hypothyroidism occurred in between 0 and 28.8 per-
cent. 25 In a 2-year follow-up study of 92 children with subclinical
intensive care unit; without treatment, mortality approaches hypothyroidism, TSH normalized or remained unchanged in 88
100 percent. -
oped overt hypothyroidism. 40
case series of patients (all girls) with HE (N = 8), all had high
levels of antithyroid peroxidase (TPO) antibodies at onset
FO LLO W-UP
levels in six of them. Relapses were observed in ve children
despite steroid therapy and four subsequently developed or free T4 and
4
hypothyroidism. 29 TSH concentrations at 2 and 4 weeks after the initiation of treat-
ment, every 1 to 2 months during the rst 6 postnatal months, and
puberty (24% of 33 children in one case series). 30 every 3 to 4 months between 6 months and 3 years of age. 3 If
PART 17
ENDO CRINO LO GY
hypothyroidism is permanent (expected in about 80%), serum tests

should continue every 6 to 12 months until growth is complete or
more frequently if adherence is questioned or abnormal results are 1993-2010. J Clin Endocrinol Metab. 2012;3155-3160.
obtained. If the medication dose is altered, test in 2 weeks.
4
and TSH should be rechecked in children approxi- implications for screening. Endocrinol Metab Clin North Am. 1997;
mately 6 to 8 weeks after initiation of levothyroxine therapy and 26(1):189-218.
again in 4 to 6 months, with dosing adjustments made as needed. If Ann Intern Med.
normal, testing should continue every 3 to 6 months thereafter
until growth is complete unless otherwise clinically indicated, then
annually. 3,20 SO R
care physicians. Mayo Clin Proc. 2009;84(1):65-71.
incidence of medically treated thyroid disease in children with

dose may need to be increased during pregnancy (20% to 40%),
Down syndrome after rerelease of American Academy of
with use of estrogens, or in situations of weight gain, malabsorp-
Pediatrics Health Supervision guidelines. Pediatrics. 2008;
tion, Helicobacter pylori-related gastritis and atrophic gastritis and
122(2):e493-498.
with use of some medications. Requirements may decrease with
development of autonomous thyroid nodules. 8 and dyslipidemia in children and adolescents with type 1 diabetes
mellitus. Eur J Endocrinol
with Hashimoto thyroiditis (14.3% in one study), including rheu-
matoid arthritis, pernicious anemia, systemic lupus erythematosus, de ciency and subclinical hypothyroidism are common in cystic
Addison disease, celiac disease, and vitiligo, and increased monitor- brosis patients. J Trace Elem Med Biol. 2012 Oct 26. [Epub ahead
ing should be considered. 41
PATIENT RESO URCES of subclinical hypothyroidism in 5- to 15-year-old children with

migraine headache. J Pediatr Endocrinol Metab. 2012;25(9-10):
859-862.
www.thyroid.org/ patients/ brochures.html.
www.nlm.nih.gov/
locus in autosomal recessively inherited thyroid dysgenesis.
medlineplus/ thyroiddiseases.html.
J Pediatr Endocrinol Metab. 2012;25(5-6):419-426.
-
PRO VIDER RESO URCE
teristics of children with autoimmune thyroid disease. Hormones
http:// reference.medscape.com/ article/ 922777. (Athens). 2011;10(3):207-214.
Pediatr Rev. -
2009;30(7):251-257. roidism by a new clinical score: Evaluation of patients with
various grades of hypothyroidism and controls. J Clin Endocrinol
REFERENCES Metab. 1997;82:771-776.
Thyroid diseases of Italian Society for Pediatric Endocrinology. childhood-epidemiology, clinical and laboratory ndings in 61
Acute suppurative thyroiditis in childhood: relative frequency patients. Exp Clin Endocrinol Diabetes. 1997;105(4):66-69.
among thyroid in ammatory diseases. J Endocrinol Invest. JAMA. 1995;
2007;30:346-347. 273(10):813-819.
19. American Academy of Pediatrics, Rose SR; Section on
and aetiology of hypothyroidism in the young. Arch Dis Child.
2000;83:207-210.
Pediatr Rev.
2009;30(7):251-257.
therapy for congenital hypothyroidism. Pediatrics. 2006;117:
-
2290-2303.
of the neonatal screening program 1990-2000. J Pediatr Endocrinol
Metab. 2005;18:453-461. ultrasonography in the diagnosis of congenital hypothyroidism.
Endocr J. 2002;49:293-297.
-
ism: increased incidence in Asian families. Arch Dis Child -
1988;63:790-793. ence limits. J Clin Endocrinol Metab. 2010;95(2):496-502.
PART 17
1122 CHAPTER 191
ENDO CRINO LO GY
Screening for Thyroid

thyroid hormonr replacement for congenital hypothyroidism. Disease
Cochrane Database Syst Rev uspsthyr.htm, accessed November 2011.
name L-thyroxine are not bioequivalent for children with severe isolated maternal hypothyroxinemia identi ed in the rst half of
congenital hypothyroidism. J Clin Endocrinol Metab. 2013;98(2): pregnancy. Obstet Gynecol. 2007;109:1129-1135.
610-607.
J Clin Endocrinol Metab. 2009;94(1):21-25.
compared with Synthroid in young children with congenital
hypothyroidism. J Clin Endocrinol Metab. 2013;98(2):653-658. cause by Hashimoto’s thyroiditis. Arch Intern Med. 1995;155(13):
- 1404-1408.
hood and adolescence. Natural history of subclinical hypothyroid-
ism in children and adolescents and potential effects of replace- of cognitive and motor development in toddlers with congenital
ment therapy: a review. Eur J Endocrinol. 2012;168(1):R1-R11. hypothyroidism diagnosed by neonatal screening. J Dev Bahv Pediatr.
2012;33(8):633-640.
care physicians. Mayo Clin Proc. 2009;84(1):65-71.
- Health-related quality of life and self-worth in 10-year old
mone replacement for subclinical hypothyroidism. Cochrane children with congenital hypothyroidism diagnosed by neonatal
Database Syst Rev. screening. Child Adolesc Psychiatry Ment Health. 2012;6(1):32.
reduces thyroid size in children and adolescents with chronic implications for screening. Endocrinol Metab Clin North Am. 1997;
autoimmune thyroiditis. J Clin Endocrinol Metab. 2006;91(5): 26(1):189-218.
1729-1734.
- of thyroid disorders in the community: a twenty-year follow-up
athy: identi cation and long-term outcome in children. Eur J Clin Endocrinol (Oxf). 1995;43(1):55-68.
Paediatr Neurol
- of the natural course of idiopathic subclinical hypothyroidism in
istics of pseudoprecocious because of severe primary hypothy- childhood and adolescence. Eur J Endocrinol. 2009;160(3):417-421.
roidism. J Pediatr. 2013;162(3):637-639.
relative risk of other autoimmune diseases in subjects with
therapy and growth processes in children with Down syndrome. autoimmune thyroid disease. Am J Med. 2010;123(2):
Adv Clin Exp Med. 2013;22(1):85-92. 183.e1-183.e9.
PART 17
ENDO CRINO LO GY
192 HYPERTHYRO IDISM

PATIENT STO RY
A 12-year-old girl presents with fatigue, palpitations, and inability to

sleep. She has been an excellent student in school but has had increasing
dif culty concentrating in class and dif culty focusing her eyes. Family
history was signi cant for thyroid disease in her mother (hypothyroid)
and maternal aunt (Graves’ disease [GD]). On examination, her pulse is
105 beats per minute, blood pressure 112/ 60 mm Hg, and she is
mildly underweight with a BMI of 15. She has a mild resting tremor,
proptosis (R >L), and her thyroid exam reveals a slightly enlarged but
symmetric gland (Figure 192-1). You obtain blood work that reveals a
low thyroid-stimulating hormone (TSH) and an elevated free thyroxin
level (T4). A thyroid scan and uptake shows a diffusely increased intake
of 54 percent with no nodules (Figure 192-2). The patient was diag-
nosed with GD and the therapeutic options are presented to the family. FIGURE 19 2-2 Nucle ar scan o f the thyro id in Grave s d ise ase sho wing
incre ase d up take (54%) in a d iffuse ly e nlarg e d thyroid g land (with a
homog e ne o us p atte rn). (Use d with p e rmissio n fro m Richard P. Usatine ,
MD.)
INTRO DUCTIO N
GD is an autoimmune thyroid disorder characterized by circulating SYNO NYMS

antibodies that stimulate the thyroid-stimulating hormone (TSH)
receptor and resulting in hyperthyroidism. 1 Thyrotoxicosis (clinical state resulting from inappropriately high thy-
roid hormone levels); hyperthyroidism (thyrotoxicosis caused by ele-
vated synthesis and secretion of thyroid hormone), autoimmune
hyperthyroidism, von Basedow’s disease (in Europe).
EPIDEMIO LO GY
95 percent of cases), with a prevalence in children and adolescents

of between 1:2000 and 1:10,000 and an incidence between 0.1 and
3 per 100,000. 2,3 The incidence peaks in adolescence; only 1 to
5 percent of cases of childhood hyperthyroidism begin before the
age of 16 years. 4
to 5:1. 4
infants born to mothers with GD, but is usually transient (resolving

in 3 to 12 weeks). 4,5 Cases of persistent congenital hyperthyroidism
and non-autoimmune familial hyperthyroidism due to mutations in
the TSH-receptor gene have been reported. 4
-
mas, functioning thyroid nodules, pituitary resistance to thyroid hor-
mones, and ingestion thyroid hormone or iodine. 4 Thyrotoxicosis of
variable duration can also occur as part of Hashimoto thyroiditis
(see Chapter 191, Hypothyroidism). Authors of one small case series
FIGURE 192-1 Grave s d ise ase p re se nting in a 12-ye ar-old g irl. Note (N = 14) reported resolution of hyperthyroidism by 8.3 ± 6.3
the lid re traction and p rop tosis (e xop hthalmos), p articularly e vid e nt on
the rig ht e ye . (Use d with p e rmission from Cle ve land Clinic Child re n’s months after diagnosis (range 3 to 23 months); duration was positively
Hosp ital Photo File s.) correlated with thyroid peroxidase autoantibody level at presentation.6
PART 17
1124 CHAPTER 192
ENDO CRINO LO GY
premature craniosynostosis can occur if diagnosis is delayed. 4

Features”) occurs in more than 80 percent of patients within Common symptoms of Graves’ disease are:4,7
18 months of diagnosis of GD. The ophthalmopathy is clinically
apparent in 30 to 50 percent of patients, including children. 4,7
-
tion, cardiomyopathy, and congestive heart failure; thyrotoxicosis
(thyroid storm) has an associated mortality rate of 20 to 50 percent. 8
In newborns, untreated hyperthyroidism can cause irreversible
nervous system damage and developmental delay. 4
restlessness and irritability, and nocturia.
ETIO LO GY AND PATHO PHYSIO LO GY Signs of disease include:
-
lin (Ig) G antibodies that stimulate the TSH receptor. 7 These anti-
thyroid bruit (Figures 192-3 to 192-5).
bodies are synthesized in the thyroid gland, bone marrow, and
lymph nodes. Activation of the TSH receptor stimulates follicular
hypertrophy and hyperplasia causing thyroid enlargement (goiter)
and an increase in thyroid hormone production with an increased
fraction of triiodothyronine (T3) relative to T4 (from approximately ~
20 to up to 30 percent). 7 circulation).
~ Palmer erythema.
including human leukocyte antigen-D related [HLA-DR] and cyto-
toxic (T-lymphocyte antigen 4 [CTLA-4] polymorphisms) and envi- patients) and gradually progresses with only mild discomfort (a
ronmental factors, including physical and emotional stress (e.g., gritty sensation with increased tearing is the earliest manifestation).
infection, childbirth, life events). 4,7 In addition, insulin-like growth The eye ndings in GD are less severe in children and include:4,7,11
factor-1 receptor (IGF-1R)-bearing broblasts and B-cells exhibiting ~ Lid retraction (drawing back of the eyelid allowing more sclera
the IGF-1R(+) phenotype may be involved in the connective tissue to be visible; Figures 192-1 and 192-5).
manifestations. 9 Siblings have a higher incidence of both GD and
Hashimoto thyroiditis (Chapter 191, Hypothyroidism).
response directed toward an antigen shared by the thyroid and the

eye’s orbit. There is in ltration of the extraocular muscles by acti-
vated T cells, which release cytokines, activating broblasts ( bro-
sis can lead to diplopia) and increasing the synthesis of glycosami-
noglycans (water trapping causes swelling). 7
RISK FACTO RS
hyperthyroidism and nodular goiter. 10
of GD. 3
DIAGNO SIS
CLINICAL FEATURES
Symptoms depend on the severity of thyrotoxicosis, duration of dis-
ease (initial symptoms can be nonspeci c), and age. Children with
FIGURE 192-3 This young woman has Grave s d ise ase and a loud b ruit
congenital hyperthyroidism may be born prematurely and postnatally ove r he r e nlarg e d hyp e ractive thyroid g land . She was thyrotoxic at this
can display restlessness, irritability, failure to thrive, and tachycardia; time . (Use d with p e rmission from Richard P. Usatine , MD.)
PART 17
ENDO CRINO LO GY
~ Frank proptosis (displacement of the eye in the anterior direc-

tion; Figures 192-1 and 192-5).
~ It is possible to have unilateral or asymmetric eye involvement
with Graves ophthalmopathy (Figure 192-1).
~ Extraocular muscle dysfunction (e.g., diplopia), severe strabis-
mus, and optic neuropathy are rare in children.
LABO RATO RY TESTING AND IMAGING
with a low or undetectable sensitive assay for TSH and an elevated

free T4 level or T3 level (T3 thyrotoxicosis is more common in
children, especially prepubertal children). 4
of adult patients at diagnosis) has a positive and negative likelihood

ratio of 247 and 0.01, respectively. 12 TSH-receptor antibodies have
been reported to be higher in younger (age 5 years or younger)
compared to older children. 13 These antibodies are not usually
required for diagnosis.
author recommends measurements of iodothyronines and antibodies

at birth (in cord blood), after one week when the effects of maternal
antithyroid drugs have disappeared, and after 6 to 8 weeks of life
because TSH-stimulating immunoglobulins persist. 4
-
FIGURE 192-4 Flushe d skin and te mp oral wasting in this thyrotoxic ment or to detect nodules in an asymmetric or irregular gland.
young woman with ne w-onse t Grave s d ise ase . He r thyroid g land was
d iffuse ly e nlarg e d . (Use d with p e rmission from Richard P. Usatine , MD.) Consider a RAI scan and uptake if there is thyroid nodularity or if
the diagnosis is uncertain in the face of a suppressed TSH to rule
out toxic multinodular goiter, thyroiditis, or autonomous function-
ing nodules. 2,4 Distinguishing between the toxicosis that can occur
with Hashimoto thyroiditis and GD can be dif cult (see Chapter
191, Hypothyroidism).
differentiated thyroid cancer can be seen in children and adoles-

cents with GD. 2
Other causes of hyperthyroidism:
thyrotoxicosis and most nodules do not cause hyperthyroidism.

These present as a discrete swelling in an otherwise normal thyroid
gland, and thyroid scan would show a discrete nodule.
cause visual disturbance (in the absence of exophthalmos), and other

hormonal stimulation may occur (e.g., elevated serum prolactin).
update on RAI scan.
prescribed or acquired thyroid medication.

The differential diagnoses for the eye ndings include the following:
FIGURE 192-5 Grave s d ise ase p re se nting in a young b oy with a

d iffuse ly e nlarg e d thyroid g land and p rop tosis (e xop hthalmos). (Use d
with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.) it from Graves ophthalmopathy.
PART 17
1126 CHAPTER 192
ENDO CRINO LO GY
by one author for children. 1 Another author recommended doses of

MANAGEMENT between 220 and 275 µCi/ g, increased to 300 µCi/ g for larger
goiters or less elevated radioiodine uptake. 2
-
roid drugs (ATD), RAI therapy, and surgery, as discussed in the
these drugs should be discontinued for 3 to 7 days before treatment.7
following section. 4,7
NO NPHARMACO LO GIC concerns about subsequent thyroid cancer, treatment is generally

avoided in children under age 5 years, 2,4 although several long-term
follow-up studies (up to 36 years) did not nd adverse effects on
tears, propping up the head and taping the eyelids closed at night.
fertility, congenital abnormalities or miscarriage, or increased
cancer above the general population. 2
MEDICATIO NS
β -adrenergic
2 approximately 1 percent of patients; this condition can be treated
blockers (e.g., propranolol, 1 to 2 mg/ kg divided twice daily).
β -blockers, and possibly
SO R
steroids. 8
-
1,2,4,7 SOR -
Poten-
mopathy. This side effect can be minimized by an oral glucocorti-
coid starting on or 1 day after RAI treatment and tapering over the
agranulocytosis.7
next 1 to 3 months). 2
every 8 hours) can be considered for children allergic or intolerant to
1,14
Base-
line liver enzymes and complete blood count (CBC) (including white SURGICAL TREATMENT
15
- surgeon is recommended as one treatment option for patients

cally by one third or one half to maintain a normal serum thyrox- with GD. 15
ine level). Alternatively, the initial dosage can be continued to
induce hypothyroidism and initiating L-thyroxine therapy. 4 This nodules, pregnant women requiring high doses of ATDs, and allergy
approach may reduce frequency of monitoring for development of or failure of other therapies.
hypothyroidism.
-
- ume surgeon practicing in a hospital capable of providing pediatric
nancy as congenital malformations have been reported approximately anesthesia and post-operative care is available. 2 One author prefers
three times more often with prenatal exposure to methimazole. 14 surgery over RAI for children under age 10 years, those with
severe ophthalmopathy or large thyroids (more than two times
patients with GD who are at high risk for complications of extreme normal), adolescents considering pregnancy, and in cases where
hyperthyroidism. 15 adherence with RAI and follow-up are questionable. 2
-
15
zole until euthyroid is recommended prior to surgery and levothy-
SO R If remission (de ned as normal thyroid function off ATDs ) roxine is started following surgery. 15 A 7- to 10-d course of con-
is not seen, other treatments are considered. 1 centrated iodine solution (three to ve drops [50 to 150 mg/ dose]
three times daily), given the week before surgery can help to
were non-Caucasian race, young patients, and patients with severe decrease thyroid hormone production with the added bene t of
disease at diagnosis (high serum TSH-receptor antibodies and free decreasing thyroid vascularity. 2
T4 levels). 16
rates of hypothyroidism of greater than 50 percent; large remnants
than adults, perhaps related to less smoking exposure. Graves’
ophthalmopathy can be treated with a course of prednisone (2 to -
20 g daily) depending on severity; side effects of prolonged treat-
ment can include weight gain, immune suppression and growth 1
Complication rates may be
failure. 17 Somatostatin-analogs have been investigated in adults higher for young children; Rivkees reported postoperative compli-
with limited success. cation rates for children aged 0 to 6 years of 22 percent using a
national database, which was twice the rate for older children. 1
RADIO THERAPY Postoperative rapid PTH testing, drawn at the end of the proce-
- dure, is helpful in predicting postoperative hypocalcemia. 2
- -
feeding. A dose of > 150 µCi/ g of thyroid tissue is recommended ptosis improve with control of the hyperthyroidism.
PART 17
ENDO CRINO LO GY
REFERRAL 4 to 6 weeks if hyperthyroidism continues; consider retreatment

with RAI if there is minimal response at 3 months or hyperthyroid-
should be referred to a pediatric endocrinologist for diagnosis and ism persists at 6 months. 7
management.
recurrence of hyperthyroidism, depending on the size of the remnant
referred to a pediatric ophthalmologist. remaining; patients should be monitored with periodic blood tests
and for symptoms. For those with GD following surgery and levo-
thyroxine, a TSH is recommended at 6 to 8 weeks postoperation.15
PRO GNO SIS In cases where hyperthyroidism recurs after surgery, RAI is consid-
ered as repeat surgery is associated with increased complications.13
(about 4.5 kg) often occurs as metabolism normalizes. 7 Cortical prominence over time.
bone density has also been shown to normalize by 2 years in chil- -
dren rendered euthyroid on ATDs. 18 Remission rates following
ATDs vary from 37 to 70 percent and remission usually occurs of patients attending a thyroid clinic, the frequency of another
within 6 to 8 weeks. -
cious anemia, systemic lupus erythematosus, Addison disease,
after 5 to 8 weeks, but 50 to 90 percent of patients with GD even- celiac disease, and vitiligo) was 9.67 percent in patients with GD. 21
afterward). 8 Transient hypocalcemia has been reported following

RAI for GD. 19 Retreatment with radioiodine may be needed in PATIENT EDUCATIO N
14 percent of patients with GD, 10 to 30 percent of patients with
toxic adenoma, and 6 to 18 percent of patients with toxic nodular
goiter. 8 In one large Chinese case series (N= 1,874 children with symptoms of thyroid excess and to restore the thyroid function to
GD), the cure rate for RAI was half with an incidence of hypothy- normal.
roidism of 37.8 percent. 20 The relapse rate was 6.3 percent and
adverse effects were reported in less than 2 percent. and disadvantages; treatment should be individualized.
height, advanced bone age, and lower weight; with appropriate monitor thyroid status; there is a high risk of becoming hypothy-
treatment, pubertal progression can be maintained and nal pre- roid in the future or to relapse again into hyperthyroidism. Patients
dicted height preserved. 2 should be made aware of symptoms to watch for and to report any
recurrent symptoms.
FO LLO W-UP
kissing) and contact with other children for 5 days; avoid contact
with pregnant women for 10 days (maintain distance of approxi-
mately 6 feet); limit close contact with other adults to 2 hours for
restore the euthyroid state. Close follow-up is needed in the initial
treatment period; medications for symptoms of hyperthyroidism
share toothbrushes, utensils, dishes, towels, or clothes, and wash
can be withdrawn slowly following treatment.
these separately. 8
but drugs should be continued for 12 to 18 months to minimize

thyroid function. Additional treatment may be needed in consulta-
relapse. SO R Follow-up blood tests (T4 or T3, because prolonged
tion with an ophthalmologist.
suppression of TSH is common) are recommended at 4 to 6 weeks
after initial treatment and every 2 to 3 months after the appropriate
dose is determined.2 Despite initial remission, relapse rates are high ophthalmopathy.
5
Longer duration of treatment reduces relapse rates,
but about half of children require additional treatment. 5 of developing thyroid disease or associated disorders and should
monitor themselves for symptoms.
myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA)
vasculitis potentially involving the kidneys, respiratory tract, joints, PATIENT RESO URCES
eyes, gastrointestinal tract, and brain.2 An MPO-ANCA level can be
www.thyroid.org/ patients/ brochures.html.
www.nlm.nih.gov/
medlineplus/ thyroiddiseases.html.
of thyroid function is important. Follow-up blood testing within www.ngdf.org.
the rst 1 to 2 months (free T4 and T3) is recommended and then at
PART 17
1128 CHAPTER 192
ENDO CRINO LO GY

orbitopathy. Pediatr Endocrinol Rev. 2010;7(2):234-244.
other causes of thyrotoxicosis: management guidelines of the 12. Costagliola S, Marganthaler NG, Hoermann R, et al. Second
American Thyroid Association and the American Association of generation assay for thyrotropin receptor antibodies has superior
Clinical Endocrinologists. Thyroid. 2011;21(6):593-641. diagnostic sensitivity for Graves’ disease. J Clin Endocrinol Metab.
- 1999;84:90-97.
ease: when is de nitive therapy warranted? J Clin Endocrinol
Metab. 2011;96(3):580-588. advances in management with antithyroid drug therapy. Horm Res.
2009;71:310-317.
REFERENCES antithyroid drugs in children. Expert Opin Drug Metab Toxicol.

1. Rivkees SA. Pediatric Graves disease: controversies in manage- 2011;7(4):399-410.
ment. Horm Res Paediatr. 2010;74:305-311. 15. Bahn RS, Burch HB, Cooper DS, et al. Hyperthyroidism and
other causes of thyrotoxicosis: management guidelines of the
when is de nitive therapy warranted? J Clin Endocrinol Metab. American Thyroid Association and the American Association of
2011;96(3):580-588. Clinical Endocrinologists. Thyroid. 2011;21(6):593-641.
3. Lombardo F, Messina MF, Salzano G, et al. Prevalence, presenta- -
tion and clinical evolution of Graves’ disease in children and ado- mune hyperthyroidism relapse in children after discontinuation
lescents with type 1 diabetes mellitus. Horm Res Pediatr. 2011; of antithyroid drug treatment. J Clin Endocrinol Metab. 2008;
76(4):221-225. 93:3817-3826.
4. Bettendorf M. Thyroid disorders in children from birth to adoles-
cence. Eur J Nucl Med. 2002;29(2):S439-S446.
aspects. J Pediatr Endpcrinol Metab. 2006;19(10):1190-1206.
and how to treat. J Clin Res Pediatr Endocrinol. 2012 Nov 15. 18. Numbenjapon N, Costin G, Pitukcheewanont P. Normalization of
[Epub ahead of print] cortical bone density in children and adolescents with hyperthy-
- roidism treated with antithyroid medication. Osteoporos Int.
dren with hashitoxicosis. Horm Res Paediatr. 2012;77(1):36-40. 2012;23(9):2277-2282.
7. Brent GA. Graves’ disease. N Engl J Med. 2008;358(24):2594-2605.
with radioiodine in a child with Graves’ disease. Thyroid. 2012;
8. Ross DS. Radioiodine therapy for hyperthyroidism. N Engl J Med. 22(2):218-222.
2011;364:542-550.
pediatric hyperthyroid Graves’ disease. Eur J Pediatr. 2009;
Graves’ disease aberrantly express the IGF-1 receptor: implications 168(10):1165-1169.
for disease pathogenesis. J Immunol. 2008;181(8):5768-5774.
-
10. Tessaris D, Corrias A, Matarazzo P, et al. Thyroid abnormalities in tive risk of other autoimmune diseases in subjects with autoim-
children and adolescents with McCune-Albright syndrome. Horm mune thyroid disease. Am J Med. 2010;123(2):183.e1-183.e9.
Res Paediatr. 2012;78(3):151-157.
PART 17
HYPERLIPIDEMIA AND XANTHO MAS 1129
ENDO CRINO LO GY
193 HYPERLIPIDEMIA AND INTRO DUCTIO N

XANTHO MAS Hyperlipidemia refers to an elevated concentration of one or more of
Alia Chauhan, MD, FAAP the measured serum lipid components (total cholesterol [TC], low-
Mind y A. Smith, MD, MS density lipid [LDL], high-density lipoprotein [HDL], and triglycerides
[TGs]). Xanthomas are a skin manifestation of familial or severe
secondary hyperlipidemia, although they can occur in patients with
normal lipid levels. Hyperlipidemia is a major modi able risk factor
PATIENT STO RY for cardiovascular disease.
A 5-year-old boy is undergoing a complete physical exam prior to

starting kindergarten and the pediatrician notes some papules over EPIDEMIO LO GY
the right Achilles tendon (Figure 193-1A). She also notes rings
around the peripheral corneas of both eyes that could be arcus juveni- -
lis (Figure 193-1B). The mom noticed the papules near the foot mal lipids; boys are more likely than girls to have at least 1 lipid
about 2 months ago but had not noticed anything unusual about the 1
eyes. The pediatrician suspects that these ndings could be secondary

to elevated lipids and discovers that the mother has type 2 diabetes
(1 in 1 million persons worldwide) present in childhood with
along with high cholesterol. The child is sent for a fasting lipid panel
cutaneous xanthomas on the hands, wrists, elbows, knees, heels,
and blood sugar. The results con rm familial hypercholesterolemia
or buttocks. 2
(total cholesterol of 810 mg/ dL and a low density lipoprotein of
507 mg/ dL). The papules over the Achilles tendon are tendinous
xanthomas and the eyes do show arcus juvenilis secondary to the disease were more likely to be overweight and have dyslipidemia
elevated lipids. The child is referred to endocrinologist and the mother in childhood.
is told that all the family should be tested and everyone should be eating
a low fat diet. correlate with their adult family members levels. 4
A B
FIGURE 193-1 A. Te nd inous xanthomas ove r the Achille s te nd on of a 5-ye ar-old b oy with familial hyp e rchole ste role mia. B. Arcus juve -
nilis se cond ary to e le vate d lip id s in the same b oy with familial hyp e rchole ste role mia. The white ring is d ue to lip id in ltration of the
corne al stroma and le ave s some normal corne a at the limb us. (Use d with p e rmission from John Browning , MD.)
PART 17
1130 CHAPTER 193
ENDO CRINO LO GY
Figure 193-1). Secondary causes include obesity,

metabolic syndrome, hypothyroidism, hypopituitarism, diabetes
mellitus (type 1 and type 2), polycystic ovary syndrome, juvenile
rheumatoid arthritis, chronic renal disease including nephrotic
syndrome, Kawasaki disease, and hepatitis.
transporting cholesterol, TGs, and fat-soluble vitamins.
lipid metabolism and/ or transport or from secondary causes (listed

above), cigarette smoking, obesity, or drugs (e.g., corticosteroids, A
estrogens, retinoids, and high-dose β -blockers).
-
rotic plaques. These plaques can grow to block blood supply and
the plaque ruptures, it can precipitate a clot, causing for example

myocardial infarction.
risk of hepatomegaly, splenomegaly, hepatic steatosis, and pancreatitis.

Contributing factors include obesity, physical inactivity, cigarette smok-
ing, excess alcohol intake, medical diseases (e.g., type 2 DM, chronic
renal failure, nephrotic syndrome), drugs (as previously discussed),
and genetic disorders (e.g., familial combined hyperlipidemia). 5
fat disposition in young adults and children. 6,7
usually occurring as a consequence of primary or secondary hyper- B

lipidemia. Xanthomas can also be seen in association with monoclo-
nal gammopathy. 8 There are ve basic types of xanthomas: FIGURE 193-2 A. Erup tive xanthomas on the back of young man with
~
uncontrolled diabetes (BS = 350) and elevated lipids (triglycerides >9000
mg/dL, total cholesterol >800 mg/dL) B. Eruptive xanthomas on the arm
common form. These appear as crops of yellow or hyperpig- of the same patient. (Used with p ermission from Richard P. Usatine, MD.)
mented papules with erythematous halos in white persons
(Figure 193-2), appearing hyperpigmented in black persons.
~ Tendon xanthomas are frequently seen on the Achilles (Figure
193-1) and extensor nger tendons.
~
creases, face, upper trunk, and on scars.

~ Tuberous xanthomas are found most frequently on the hand
or over large joints.
~ Xanthelasma are yellow papules found on the eyelids (Figure
193-3
normal lipid pro les.
RISK FACTO RS/ CO NDITIO NS
Risk factors and high-risk conditions to consider for treatment deci-

sions in children with hyperlipidemia include:
myocardial infarction; angina; coronary FIGURE 193-3 Xanthe lasma around the e ye s (xanthoma p alp e b rarum);
artery bypass graft/ stent/ angioplasty; sudden cardiac death in parent, most ofte n se e n on the me d ial asp e ct of the e ye lid s, with up p e r lid s
b e ing more commonly involve d than lowe r lid s. This p atie nt has a total
grandparent, aunt, or uncle (if male at age < 55 years and female at chole ste rol of ove r 300 mg /d L. (Use d with p e rmission from Richard P.
age < 65 years). Usatine , MD.)
PART 17
ENDO CRINO LO GY
-
≥
chronic kidney disease/ end-stage renal disease/ post renal trans-

plant, post orthotopic heart transplant, and Kawasaki disease with
current aneurysms.
(e.g., systemic lupus erythematosus, juvenile rheumatoid arthritis),

nephrotic syndrome, and human immunode ciency virus infection.
DIAGNO SIS
CLINICAL FEATURES
-
thomas or lipemia retinalis (white appearance of the retina; also
seen with isolated high TG). Very high LDL can lead to the forma-
tion of tendinous xanthomas.
tumors (Figure 193-1). FIGURE 193-5 Close -up of e rup tive xanthomas in a p atie nt with
untre ate d hyp e rlip id e mia and d iab e te s. (Use d with p e rmission from
Figures 193-4 to 193-5) begin as clusters of Richard P. Usatine , MD.)
small papules on the elbows, knees, and buttocks that can grow to
Xanthomas are most commonly found in super cial soft tissues, such
as skin and subcutis, or on tendon sheaths.

-
-
shown in Table 193-1. 10 The cut points for high and borderline
-
tively. 11,12 Low cut points for HDL-C represent approximately the
10th percentile.
hormone level to determine whether thyroid dysfunction is con-

tributing to the lipid abnormalities.
BIO PSY
Biopsy is rarely needed and shows collections of lipid- lled macro-
phages.
Other skin papules that can be mistaken for xanthomas include the
following:
-
FIGURE 193-4 Erup tive xanthomas on the arm and trunk in an ob e se
p atie nt with untre ate d hyp e rlip id e mia and d iab e te s. (Use d with p e r- lar and widespread but generally have a central depression (see
mission from Richard P. Usatine , MD.) Chapter 115, Molluscum Contagiosum).
PART 17
1132 CHAPTER 193
ENDO CRINO LO GY
TABLE 193-1 Acce p tab le , Bord e rline , and Hig h Plasma Lip id , identi ed dyslipidemia, overweight and obesity, children with a
Lip op rote in Conce ntrations (mg /d L) for Child re n and risk factor/ high-risk medical condition, and children with a pos-
Ad ole sce nts 1,2,3
itive family history of early cardiovascular disease. Dietary com-
Bo rd e rline
Cat e g o ry Acce p t ab le Hig h Hig h+ sugar sweetened beverages, encourage water; fat content: Total
TC < 170 170–199 ≥200 -
LDL-C < 110 110–129 ≥130 monounsaturated and polyunsaturated fat up to 20 percent of
No n–HDL-C < 120 120–144 ≥145
ber intake from foods.
Ap o B < 90 90–109 >110 ~ -
TG cent of calories from fat, ≤7 percent from saturated fat, 10 per-
0 t o 9 ye ars < 75 75–99 ≥100 cent from monounsaturated fat, < 200 mg/ day of cholesterol and
10 t o 19 ye ars < 90 90–129 ≥130 avoid trans fat as much as possible, plant sterol esters and/ or
plant stanol esters up to 2 g/ day as replacement for usual fat
HDL-C > 45 40–45 <40
Ap o A-1 > 120 115–120 <115 soluble ber psyllium can be added to a low-fat, low saturated fat
diet as cereal enriched with psyllium at a dose of 6 g/ day for
1
Value s fo r p lasma lip id and lip o p ro te ins le ve ls are from the children 2-12 years, and 12 g/ day for those ≥12 years.
National Chole ste rol Ed ucation Prog ram (NCEP) Exp e rt Pane l ~
on Chole ste rol Le ve ls in Child re n. Non–HDL-C value s from ≥500 mg/ dL or any single measurement ≥1,000 mg/ dL related to
the Bog alusa He art Stud y are e q uivale nt to the NCEP Pe d iatric a primary hypertriglyceridemia]). Dietary components: -
Pane l cut p oints for LDL-C. Value s for p lasma Ap oB and
cent of calories from fat, ≤7 percent from saturated fat, 10 percent
Ap oA-1 are from the National He alth and Nutrition Examination
from monounsaturated fat; <200 mg/ d of cholesterol, avoid trans
Surve y III.
2
Ab b re viations: TC, total chole ste rol; LDL-C, low d e nsity lip id fat, decrease sugar intake (e.g., no sugar-sweetened beverages),
chole ste rol; HDL-C, hig h d e nsity lip id chole ste rol; TG,
trig lyce rid e s. should be treated in conjunction with a lipid specialist.
3
From: Exp e rt Pane l on Inte g rate d Guid e line s for Card iovascu- -
lar He alth and Risk Re d uction in Child re n and Ad ole sce nts sition, and exercise. Most importantly, in overweight and obese
Summary Re p ort. National He art Lung and Blood Institute . children and adolescents with elevated TG levels, even small
NIH p ub lication No. 12-7486A. O ctob e r 2012 (re fe re nce 33).
amounts of weight loss are associated with signi cant decreases in
TG levels and increases in HDL-C levels. 14–16
-
deposits of calcium on the elastic bers of the skin and eye (see lipidemia (when present).
MEDICATIO NS
Decisions regarding the need for medication therapy should be based
MANAGEMENT
on the average of results from at least two fasting lipid pro les
obtained at least 2 weeks but no more than 12 weeks apart. SO R
The cut points used to de ne the level at which drug therapy should be
treatment. Referral to a pediatric endocrinologist or dietician may be
NCEPPediatric Guidelines which have
bene cial.
been used as the basis for multiple drug safety and ef cacy trials in dys-
lipidemic children. 10 The goal of LDL-lowering therapy in childhood
NO NPHARMACO LO GIC ≤
supported; cessation lowers both cardiovascular risk and lipid

elevated LDL:10
levels. SO R ~ -
cation should only be used if LDL-C is ≥ -
physical activity for 1 hour/ day and < 2 hours/ day of sedentary gous hypercholesterolemia), TG is ≥500 mg/ dL (primary hyper-
screen time. triglyceridemia), or the child has a high-risk condition that is
Dietary Guidelines for Americans associated with serious medical morbidity. SO R
(2010 DGA) as appropriate recommendations for diet and nutrition ~ LDL-C ≥250
in children 2 years of age and older. Consider referral to a registered
dietician. after a 6-month trial of lifestyle/ diet changes, the LDL-C
10
~ remains ≥
SO R
PART 17
ENDO CRINO LO GY
~ toxicity did not differ between the statin and placebo groups in
with a negative family history of premature CVD in rst-degree the meta-analysis of statin use in children. 22
relatives and no high-level or moderate-level risk factor or risk ~ Drug interactions with statins occur primarily with drugs that are
condition, management should continue to focus on diet changes -
≥85th percentile. Treatment with -
bile acid sequestrants can be considered in consultation with a rolide antibiotics, antiarrhythmics, and protease inhibitors.
lipid specialist. 10 SO R
~ - in the original NCEPPediatric Guidelines. Studies of bile acid seques-
style/ diet management in children with a positive family history trants (cholestyramine, colestipol, or colesevelam) in children and
of premature CVD/ events in rst-degree relatives or at least one
high-level risk factor or risk condition or at least two moderate- levels, show 10 to 20 percent reductions of LDL-C levels and
level risk factors or risk conditions, statin therapy should be con- sometimes a modest elevation in TG levels.
sidered. 10 SO R ~ The primary adverse effects of the bile acid sequestrants are
~ - gastrointestinal including bloating, nausea, diarrhea, and con-

style/ diet management in a child with at least two high-level risk stipation; these signi cantly affect adherence.
factors or risk conditions or at least one high-level risk factor or risk ~ The bile acid-binding sequestrants can be used in combination
condition together with at least two moderate-level risk factors or with a statin for patients who fail to meet LDL-C target levels
risk conditions, statin therapy should be considered. 10 SOR with either medication alone. One pediatric study that assessed
~ ≥ the ef cacy of the two agents together found the combination to
dL after a trial of lifestyle/ diet management together with multiple be additive without increasing adverse effects. 26
rst-degree family members with premature CVD/ events or the
presence of at least one high-level risk factor or risk condition or CO MPLEMENTARY AND ALTERNATIVE THERAPY
the presence of at least two moderate-level risk factors or risk con-
ditions, statin therapy might be considered.10 SOR control margarine as replacement for 20 g/ day of dietary fat intake
- was found to decrease TC and LDL-C levels by 5.4 and 7.5 percent,
vated triglycerides (TG; average fasting levels of TG ≥ 500 mg/ dL respectively, in subset of 81 children. 27 There was no effect on
or any single measurement ≥1,000 mg/ dL related to a primary HDL-C or TG levels. Safety was judged to be excellent.
hypertriglyceridemia) or elevated non-HDL-C:10
~
reduces mortality when combined primary and secondary preven-
-
brate, or niacin to prevent pancreatitis. 10 SO R tion in overall mortality or cardiovascular events in adults. 28
~ mg/ dL
-
after a trial of lifestyle/ diet management, should have non-HDL
recalculated and be managed to a goal of < 145 mg/ dL. 10 SO R
~
healthy diet signi cantly lowered serum cholesterol and triglycer-
ide concentrations, respectively. -
-
tion (67 g) reduced lipid levels.
ment, consider sh oil supplementation. 10 SO R
~ Children ≥10 years with non-HDL-C levels ≥145 mg/ dL after SURGICAL PRO CEDURES
the LDL-C goal is achieved can be considered for further intensi-
cation of statin therapy or additional therapy with a brate or
niacin, in conjunction with referral to a lipid specialist. 10 SO R of treatment include surgery, electrosurgery, cryotherapy, and
laser therapy. SO R
children with elevated LDL-C or non–HDL-C levels as noted
above. The ef cacy and tolerability of statins has been demonstrated with subsequent regression of tendon xanthomas in patients with
SO R
in number of well-designed, short-term trials in children and adoles-
cents.17–21
REFERRAL
may increase HDL-C levels and lower TG modestly.
~
initial attempts at dietary control fail. Dietary advice has been shown
of adherent use, the dose can be increased by one increment. to result in modest improvements in cardiovascular risk factors, such
~ Adverse effects from statins are uncommon at standard doses but as blood pressure and total and LDL-cholesterol levels. SOR
-
did not differ between the statin and placebo groups. 22 Myopathy PREVENTIO N AND SCREENING
(muscle pain and weakness with creatine kinase elevations more
than 10 times the upper limits of normal range) typically occurs
PART 17
1134 CHAPTER 193
ENDO CRINO LO GY
Reduction in Children and Adolescents, updated in 2012 by PRO VIDER RESO URCES
~ SO R
Health and Risk Reduction in Children and Adolescents Sum-
~ SO R Measure
fasting lipid pro le twice (as previously discussed for an average publication No. 12-7486A. October 2012, http:// www
level) if the family history is positive for elevated cardiovascular .nhlbi.nih.gov/ guidelines/ cvd_ped/ peds_guidelines_
risk or the child has a high level risk factor or condition (see the sum.pdf. Also available at: http:// www.nhlbi.nih.gov/
guidelines/ cvd_ped/ index.htm.
~
pro le and calculate non-HDL-C (TC-HDL-C). SO R

HDL-C is ≥145 mg/ dL and HDL < 40 mg/ dL, repeat fasting
lipid pro le twice as discussed above to obtain average level.
~ SO R Levels in Children and Adolescents. Pediatrics
knowledge of positive family history, new risk factor or new high http:// www.nhlbi.nih.gov/
risk condition is identi ed in the patient, obtain fasting lipid guidelines/ cvd_ped/ chapter9.htm.
panel (twice and average).
~
time period, obtain non-fasting lipid pro le and calculate non– REFERENCES
HDL-C; if non–HDL-C ≥145 mg/ dL, HDL-C < 40 mg/ dL,
obtain fasting lipid panel (twice and average). SO R
MMWR Morb Mortal Wkly Rep. 2010;
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2. Rader DJ, Hobbs HH. Disorders of lipoprotein metabolism.
PRO GNO SIS Jameson JL, eds. Harrison’s Principles of Internal Medicine. New
cardiovascular risk from childhood to young adulthood in off

spring of parents with coronary artery disease: Bogalusa Heart
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often results in regression of xanthomas. xanthomatosis associated with monoclonal gammopathy. Blood.
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www.nhlbi
Heart Association Council on Cardiovascular Disease in the
.nih.gov/ health/ public/ heart/ chol/ wyntk.htm.
www.nlm.nih.gov/
medlineplus/ cholesterol.html.
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ENDO CRINO LO GY
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dence of obese adolescents: reduction by exercise plus diet
intervention. Pediatrics
advice for reducing cardiovascular risk. Cochrane Database Syst Rev.

statin therapy in children with familial hypercholesterolemia: a
2007;(4):CD002128.
JAMA
and Risk Reduction in Children and Adolescents Summary Re-

-
ial hypercholesterolemia. Acta Paediatrica
No. 12-7486A. October 2012, http:// www.nhlbi.nih.gov/
guidelines/ cvd_ped/ peds_guidelines_sum.pdf, accessed
hypercholesterolemia. Pediatrics
-
trolled trial with simvastatin. Circulation
hypercholesterolemia in children with dietary interventions based
- in pediatric practice. Prev Med
astatin therapy for children with familial hypercholesterolemia.
J Am Coll Cardiol. 2010;55:1121-1126.
PART 17
1136 CHAPTER 194
ENDO CRINO LO GY
obese. 1
194 O BESITY of all included ages in the study. Since 1980, the prevalence of
Stacy McConke y, MD, FAAP obesity in children has tripled. 1
Ang e la M. Fals, MD, FAAP
are 14.1 billion dollars annually. 2

-
PATIENT STO RY bers of obese children, with 1 in 7 lowincome preschool children
being obese. 3,4
A 13-year-old Hispanic female is brought to her pediatrician with var-
ious concerns, including that her neck always appearing dirty no mat- with lower household income. 4
ter how much she washes and scrubs it. The pediatrician notes that
the child has acanthosis nigricans of the neck and axillae along with 3
obesity (Figure 194-1). The mother is obese and admits to having (2007 to 2008), Hispanic boys, aged 2 to 19 years, were signi -
type 2 diabetes. A diet history reveals that the mother cooks tradi- cantly more likely to be obese than non-Hispanic white males and
tional Mexican cuisine and the daughter is very fond of tortillas. She non-Hispanic black girls aged 2 to 19 years were signi cantly more
also loves to eat pizza, french fries, and other fast food. The girl is a likely to be obese than non-Hispanic white girls. 5
good student but does not like to exercise or play sports. The pedia-
trician is concerned that the girl may have insulin resistance or type 2
income; Caucasian teenage girls from the lowest income quintile
diabetes so she plans to send the patient for screening labs including
had relative risks for obesity of 2.72 compared to teens in the
hemoglobin A1c and fasting blood sugar. She also recommends a
highest quintile. 4
healthier diet with less calories and increased physical activity. A
referral to a nutritionist is offered.

INTRO DUCTIO N
Obesity is a complex problem involving genetics, health behaviors
Obesity in children is de ned as a BMI greater than or equal to the (e.g., diet or exercise), environment, culture, and sometimes medi-
age- and sex-speci c 95th percentiles of the 2000 Centers for Disease cal diseases (see differential diagnosis) or drugs (e.g., steroids or anti-
Control (CDC) growth charts; a child is considered overweight at the depressants). The simplest explanation of obesity is an imbalance
85th to 95th percentile. between intake (calories eaten) and output (physical activity).
EPIDEMIO LO GY show that the genetic component of obesity is somewhere between
Studies have identi ed 42 different genes likely associated with obe-

sity. Most of these genes only make a small contribution to the
overall elevation of BMI (around 0.17 kg/ m2). The cumulative risk
for developing obesity not only relies on the individuals genotype,
but also on the environment and a wide variety of other factors.
supermarkets with fresh produce or healthy choices. Calorie dense

“junk food” or fast food is more readily available and less expensive
than healthier options. Daycares and schools are not regulated or
monitored on their ability to provide healthy options for children.
machines may lead to increased consumption of calorie dense

foods. 7 In addition, portion size is commonly much larger than
what typical serving sizes for children should be. This leads to
overeating and the expectation for increased food consumption
at meals and snacks.
and exercise, and exposes children to targeted advertising. 8
FIGURE 194-1 Acanthosis nig ricans of the ne ck in a 13-ye ar-old ob e se 9

g irl with a family history of ob e sity and typ e 2 d iab e te s. She e ats a
hig h-calorie high fat diet and g ets little physical activity. (Used with -
p ermission from Richard P. Usatine , MD.)
PART 17
O BESITY 1137
ENDO CRINO LO GY
higher BMI in adulthood. 8

an independent risk factor for obesity. 8
time devoted to exercise, which falls well below the recommended
areas, parks, and recreation facilities may be limited, especially in

urban and rural areas.
RISK FACTO RS
children, children aged 1 to 2 year olds with non-obese parents had

an 8 percent chance of being obese adults while children aged 10 to
14 years with one obese parent had a 79 percent chance of being
obese as adults. 10
snack foods, and fast food consumption.
Being Study found that cumulative social stressors between the ages
of 1 to 3 years were associated with increased odds of early onset
FIGURE 194-2 Acanthosis nig ricans in the axilla of on ob e se Hisp anic
obesity among girls. 11 The greater the number of stressors at one te e nag e g irl. (Use d with p e rmission from Richard P. Usatine , MD.)
time predicted a greater risk for obesity at the age of 5 years.
higher), insulin resistance, and type 2 diabetes mellitus
DIAGNO SIS (2.9 times higher).
and may suffer from sleep apnea.

kilograms divided by the standing height in m2. That number is
charted on the 2000 CDC growth chart for BMI to determine if the
child is normal (< 85th percentile), overweight (85 to 94th percen- in obese children (Figures 194-1 and 194-2; see Chapter 190,
19 years, the adult de nition for obesity of 30 kg/ m2 can be uti-

Figure 194-3).
lized. The 2007 expert committee of the American Academy of
category of severe obesity, de ned as BMI of 30 to 32 kg/ m2 for

10 to 12 year olds and > 34 kg/ m2 12
BMI are not available for children < 2 years of age. The BMI as a
percentage usually peaks in the rst 8 months and then falls to a
-
dren are at the percentile that they will follow into adolescence. In
general, the earlier a child reaches their nadir, the more likely the
child will have an elevated BMI later.
predictors for obesity and are not followed routinely.
CLINICAL FEATURES
Figure 194-1) are more likely to have FIGURE 194-3 Striae cause d b y ob e sity in this g rowing te e nag e r.
hypertension (2.9 times higher), high cholesterol (2.1 times (Use d with p e rmission from Richard P. Usatine , MD.)
PART 17
1138 CHAPTER 194
ENDO CRINO LO GY

-
sity and recommendations are based on BMI percentile. 12
testing is recommended.
≥ age 10 years and
have other risk factors and children with a BMI > 95th percentile,
with a BMI > 85 percent (baseline and every 2 years if BMI remains
The differential diagnosis of a patient with obesity includes the fol-

FIGURE 194-4 Pse ud og yne comastia in an ob e se b oy who also has
g uttate p soriasis. (Use d with p e rmission from Richard P. Usatine , MD.)
lowing medical conditions:
growth has slowed or stopped; laboratory testing (thyroid stimulat-

ing hormone and free thyroxine) con rms the diagnosis (see Chap-
(Figures 194-4 and 194-5). This appears similar to gyneco- ter 191, Hypothyroidism).
mastia but this is not real breast development just increased
adipose tissue.
include truncal obesity, purple striae, and linear growth cessation.
Diagnosis is con rmed with inappropriately high serum or urine
cortisol levels (see Chapter 195, Cushing Disease).
self-esteem, discrimination, and bullying. -
tion or anovulation, hyperandrogenism, and polycystic ovaries.
Biedel syndrome, Albright Hereditary Osteodystrophy, Carpenter

syndrome, Cohen syndrome; these obesity syndromes in children
-
demann syndrome is associated with fasting hypoglycemia and
Alstrom syndrome with blindness and deafness. If any of these syn-
dromes are suspected, consult a geneticist.
stabilizers, and glucocorticoids can cause weight gain.
MANAGEMENT
is improvement of long-term physical and mental health through

permanent lifestyle and habit changes leading to and maintaining a
healthy weight and BMI for life. Depending on age and starting
BMI values, this may be accomplished through either gradual,
steady weight loss or decreased weight velocity and maintenance
-
tions such as hypertension, diabetes, steatohepatitis, and metabolic
syndrome.
-
-
ment of childhood obesity in children ages 2 to 19 years. 12 The rst
FIGURE 194-5 Pse ud og yne comastia in this ob e se b oy with p ityriasis three involve nonpharmacologic approaches. Additional nutritional
alb a. (Use d with p e rmission from Richard P. Usatine , MD.) and activity recommendations by age group are displayed in
PART 17
O BESITY 1139
ENDO CRINO LO GY
TABLE 194-1 Nutritional and Activity Re comme nd ations b y Ag e Group 1
Ag e Gro up Nut rit io n Act ivit y

Infants Bre astfe e d ing re d uce s the incid e nce of ob e sity N/A
and should b e e ncourag e d from b irth throug h
6 months of ag e ; id e ally, continue d throug h
1 ye ar of life . Mothe rs should le ad b y e xamp le
and mod e l he althy e ating hab its to maximize
he r child ’s he alth.
Tod d le rs and Introd uce a varie ty of food s and te xture s e arly in Promote routine s of e ating more than
p re school-ag e d life (e sp e cially fruits and ve g e tab le s) as food 5 nig hts p e r we e k tog e the r as a family,
child re n p re fe re nce s d e ve lop e arly. Allowing the child to ob taining at le ast 10.5 hours of sle e p
stop e ating whe n full, te ach the m to liste n to p e r nig ht, and limiting scre e n time to
the ir inte rnal “hung e r cue s” to d e te rmine le ve l le ss than 2 hours p e r d ay d e cre ase s
of satiation as a me ans of p ortion-control. ob e sity p re vale nce .
O ld e r child re n Child re n are e ncourag e d to e at a b alance d d ie t Fun and e ng ag ing p lay is most e ffe ctive for
with e mp hasizing ap p rop riate p ortions of fruits, p romoting e xe rcise in child re n. Sle e p
ve g e tab le s, whole g rains, low-fat d airy, and le an 9 hours nig htly and avoid d isrup tion of
p rote in; Choose My Plate is a mod e l that can the normal sle e p cycle with ove rly b usy
b e use d to und e rstand p ortion size s. sche d ule s, e ating p rior to b e d time , and
the use of e le ctronics.
1
Data from Information from Ame rican Acad e my of Pe d iatrics: The rst ye ar in A Pare nt’s Guid e to Child hood O b e sity: A Road map
to He alth, e d ite d b y SG Hassink, USA, Ame rican Acad e my of Pe d iatrics, 2006 p .141; Hassink SG: Tod d le r in Pe d iatric O b e sity—
Pre ve ntion, Inte rve ntion, and Tre atme nt Strate g ie s for Primary Care . USA, Ame rican Acad e my of Pe d iatrics, 2007 p .53; Jakicic JM,
Clark K, Cole man E, e t al. Ame rican Colle g e of Sp orts Me d icine p osition stand : ap p rop riate inte rve ntion strate g ie s for we ig ht loss
and p re ve ntion of we ig ht re g ain for ad ults. Me d Sci Sp orts Exe rc. 2001;33(12):2145-2156; And e rson SE, Whitake r RC. House hold
routine s and ob e sity in US p re school-ag e d child re n. Pe d iatrics. 2010;125(3):420-428.
Table 194-1. Tools available to assist primary-care providers in

screening and basic strategies for addressing health and wellness Stage 1 interventions, consider moving to Stage 2.
12
with Support. This stage combines Stage 1 recommendations for

NO NPHARMACO LO GIC nutrition and activity education with added family support and
accountability.
for obese children can be undertaken in the of ce setting by any
appropriately-trained provider or clinical staff. It is important to dietician, staff trained in motivational interviewing for follow up
involve the entire family in making permanent lifestyle changes.
Changes may need to be slow and in a stepwise fashion, and should considered.
be tailored to family behaviors, cultural values, norms, and usual
foods.
incorporate a daily eating plan with balanced macronutrients (fats,
carbohydrates, and protein), planned snacks, and age-appropriate
beverages; encourage 5 to 9 daily servings of fruits and vegetables; portions. In 2011, the well-known food pyramid was replaced by
provide a healthy daily breakfast; limit eating out (especially fast Choose My Plate as
food), engage in meal planning and preparation at home; provide a way to simplify and facilitate healthy eating to the public. 14 The
“plate” emphasizes appropriate portions for fruits, vegetables,
meals, and avoid restrictive feeding behaviors. whole grains, low-fat dairy, and lean protein.
behaviors such as through use of a journal is an effective means of

schedule is very important in long-term weight maintenance and regulating behavior change; 15 planned reinforcement is important
helps avoid weight regain. 13,22 for achieving goals and continued motivation.
PART 17
1140 CHAPTER 194
ENDO CRINO LO GY
O THER INTERVENTIO NS
Stage 2 interventions, consider moving to Stage 3.
overweight and obesity in children including depression, low
- self-esteem, distorted body image, and bullying.
dations for nutrition and activity education at a pediatric weight
management center run by a trained multidisciplinary team. The behaviors including the use of food for non-nutritive purposes
team includes a physician, behavioral counselor, registered dieti- (e.g., using food as a reward or punishment and using food for
cian, and exercise specialist. Implement a structured program comfort). 21
with features of behavior modi cation, monitoring of nutrition
and activity behaviors, short-term diet (if indicated), regular
health and social function in children and adolescents struggling
(weekly or monthly) visits, and goal setting. Systematic evaluation
with obesity.
of body measurements should be performed at baseline and speci- ~ -
ed intervals.
times, not only savoring the food but also enjoying mealtime
ages 2 to 5 years is < 1 pound per month and for children > 5 years reach the goal of eating slowly to promote satiation, tune into
internal cues of fullness, and minimize overeating. 22
shown to be an effective means to allay teen fears and help them
to deal with anxiety. 23
comprehensive, intensive behavioral interventions to promote motivational interviewing describe a set of counseling techniques
improvement in weight status. This recommendation is based in directed towards motivating families to make necessary changes
part on data showing that moderate- to high-intensity programs towards healthy lifestyles. Key characteristics include: (1) nondi-
(> 25 hours of contact with the child and/ or the family over a
combining family values and current health practices; (4) assess-
14
with obesity.
successful. 12
teens, intensive interventions are reserved for those who have repeat-
edly had unsuccessful attempts at medical weight management in the PREVENTIO N AND SCREENING
prior 3 stages, have the maturity to make life-altering decisions, and
have reached skeletal maturity (for bariatric surgery). Obesity prevention should be a priority for the pediatrician since
it is much more dif cult to treat rather than prevent child and
MEDICATIO NS adolescent obesity. Active involvement and engagement of the
entire family is key to successful obesity prevention. The basic
and adolescents, but currently only Orlistat is available. Orlistat approach to prevention and screening of childhood obesity is to
can be given to adolescents aged 12 to 18 years under the supervi- identify particular challenges and barriers that a particular family
sion of a physician and by prescription only. Orlistat prevents fat has to changing lifestyles and assess level of readiness to change to
absorption. Daily exercise and healthy lifestyle must continue as
medication alone has demonstrated only modest weight loss effects achieve success.
and discontinuing diet and exercise can result in a major setback
with weight regain.
today. 24 There are six proposed stages: precontemplation, con-
diabetes and appears effective for decreasing BMI while preventing templation, preparation, action, maintenance, and termination.
progression to diabetes in children. 17 Depending on level of readiness to change, it may be appropriate
to discuss the risks obesity and the bene ts of maintaining a
SURGERY healthy weight.
-
25 to 75 kg of weight loss after 2 to 4 years in adults. 18 quently through ambivalence towards change, there are ve general
outcome data are not available in children, but short-term results principles of effective motivational interviewing that can be used:
appear to be similar to those in adults. 19 (1) effective empathy, (2) developing discrepancy between present
behavior and goals, (3) avoiding argumentation, (4) rolling with
resistance, and (5) supporting self-ef cacy. 25
adjustable gastric banding or sleeve). 20 These include being at -
Tanner Stage 4 or 5 and at nal or near- nal height with a BMI ing percentile, and plot it on standard growth charts at every
> 50 or BMI > 40 and having comorbidities. Surgery is best per- annual visit for well child checks. 9 In addition, blood pressures
should be taken frequently as well as consideration of family history
and medical risks assessment.
PART 17
O BESITY 1141
ENDO CRINO LO GY

four parenting styles (authoritarian, authoritative, permissive, and
www.eatright.org.
neglectful), authoritarian parenting was associated with the highest
risk of overweight in children in the rst grade.
www.healthiergeneration.org.
www.aap.org.
~
-
~
PRO GNO SIS

www.acsm.org.
www.asbp.org.
peers to hypertension, type 2 diabetes mellitus, dyslipidemia, lung www.obesity.org.
problems (e.g., asthma or obstructive sleep apnea), orthopedic
problems (e.g., genu varum or slipped capital femoral epiphysis)
and nonalcoholic steatohepatitis. Obese adolescents may also suffer
from depression and low self-esteem. www.cdc.gov/ obesity/ index.html.
-
ent ages as follows:2 infancy, 14 percent; preschool, 25 percent; REFERENCES
age 7 years, 41 percent; age 12 years, 75 percent; adolescence,
90 percent. In addition, over half of obese adolescents remain
overweight as young adults. 27 www.cdc.gov/ nchs/ data/ databriefs/ db82.pdf, accessed March
2012.
can reduce or eliminate comorbidities such as hypertension, Pediatr Rev. 2011;
noninsulin-dependent diabetes, and coronary heart disease. 28
Similar results could be anticipated for children as well. 3. Centers for Disease Control. Overweight and Obesity. Available
at http:// www.cdc.gov/ obesity/ data/ index.html, accessed
March 2013.
FO LLO W-UP
growth and maturation of children. Pediatr Rev
290-294.
percentile) yearly and watch for excessive weight gain compared
with linear growth, identify and track patients at risk of obesity
based on risk factors, encourage and support breastfeeding, rou-
tinely promote healthy diets and levels of physical activity, and
monitor changes in obesity-associated risk factors. 28 Available at http:// www.cdc.gov/ nchs/ data/ hestat/ obesity_
child_07_08/ obesity_child_07_09.htm, accessed March 2013.
Pediatrics.
PATIENT EDUCATIO N 2012;130(1):123-133.
for a healthy life style with a diet that is high in fruits and vegeta- obesity/ downloads/ childrensfoodenvironment.pdf, accessed
bles, ber, and calcium while adhering to appropriate portion March 2013.
sizes, and to pursue daily physical activity in the form of different,
engaging activities for children and adolescents. Maintaining nor- Pediatrics. 2011;128(1):201-208.
mal weight and treating obesity-related comorbidities will not Food for Thought:
only maximize health but also improve quality of life. Television Food Advertising to Children in the United States. Menlo
PATIENT RESO URCES

young adulthood from childhood and parental obesity. N Engl
www.nlm.nih.gov/ medlineplus/ obesity.html. J Med
www.choosemyplate.gov.
www.letsmove.gov. social risk and obesity in early childhood. Pediatrics. 2012;129(5):
e1173-e1179.
PART 17
1142 CHAPTER 194
ENDO CRINO LO GY
- 19. Ciangura C, Basdevant A. Bariatric surgery in young massively

mendations regarding the prevention, assessment, and treatment obese diabetic patients. Diabetes Metab
of child and adolescent overweight and obesity: summary report.
Pediatrics Consultant for Pediatricians. 2009;8(12):430-431.
Sports Medicine position stand: appropriate intervention strate- in youth, 2nd edition. Eur Eat Disord Rev. 2010;18(3):244.
gies for weight loss and prevention of weight regain for adults.
Med Sci Sports Exerc
related to the nutritional health of children and adolescents?
Pediatrics
Available at http:// www.choosemyplate.gov, accessed March
J Dev Behav Pediatr. 2012;
2013.
33:193-201.
systematic review of the literature. J Am Diet Assoc. 2011;111(1):

behavior change. Am J Health Promot. 1997;12(1):38-48.
92-102.
recommendation statement. Pediatrics

Pediatrics.
adolescents: the MOCA trial. J Clin Endocrinol Metab. 2013;
98(1):322-329.
and obesity. Pediatrics. 2003;112(2):424-430.

review of long-term weight loss studies in obese adults: clinical
signi cance and applicability to clinical practice. Int J Obes (Lond).
Obes. Res
PART 17
CUSHING SYNDRO ME 1143
ENDO CRINO LO GY
195 CUSHING SYNDRO ME EPIDEMIO LO GY

and autoimmune disorders are at risk for developing exogenous

Cushing syndrome.
PATIENT STO RY
A 21-month-old girl is brought to the pediatrician for a routine physi- type 2 diabetes, occurring in 2 to 5 percent of these patients. 1
cal examination. The mother notes that the child has recently gained
an excessive amount of weight. Examination shows an obese toddler boys.
who has a blood pressure of 130/ 90 mm Hg. The linear growth is
noted to be abnormal and her weight has jumped from the 50th per-
centile at the last visit 6 months ago to above the 90th percentile. ETIO LO GY AND PATHO PHYSIO LO GY
The girl has hirsutism and acne on the forehead (Figure 195-1).
Urinalysis shows glycosuria. The pediatrician is suspicious for hyper-
cortisolism and refers the child to a pediatric endocrinologist. A of oral, parenteral, or topical glucocorticoids (exogenous or iatro-
dexamethasone suppression test reveals lack of suppression of corti- genic Cushing syndrome).
sol, consistent with Cushing syndrome. A CT scan of the abdomen -
reveals an adrenal tumor, which is surgically resected and found to be tion of pituitary ACTH causing adrenal hyperplasia) is the most
an adrenal adenoma. The girl is maintained on glucocorticoid therapy common cause of Cushing syndrome. 2
and recovers.
hypercortisolism along with signs of hypersecretion of other ste-

INTRO DUCTIO N
roids such as androgens, estrogens, and aldosterone. 3–5
Cushing syndrome occurs as a result of cortisol or glucocorticoid
excess from any cause. Excess plasma cortisol production in endog- production of ACTH, although this is uncommon in children. Ectopic
enous Cushing syndrome may be caused by either excess ACTH ACTH secretion in children has been associated with islet cell car-
secretion from the pituitary gland (Cushing disease) or adrenal over- cinoma of the pancreas, neuroblastoma, hemangiopericytoma,
production of plasma cortisol from adrenal tumors. Cushing syn- Wilms tumor, and thymic carcinoid. 6
drome can also be the result of exogenous administration of ACTH or
glucocorticoids (iatrogenic).
RISK FACTO RS
SYNO NYMS
Hypercortisolism.
DIAGNO SIS
The diagnosis is made by the combination of clinical features and

speci c lab tests.
CLINICAL FEATURES
indicators of hypercortisolism in children (Figure 195-2). 3–5
may take years before they are fully apparent.

(Figure 195-3).
FIGURE 195-1 Acne , milia, and hirsutism on the fore he ad of a g irl
with Cushing synd rome cause d b y an ad re nal ad e noma. (Use d with
p e rmission from Elumalai Ap p achi, MD.)
PART 17
1144 CHAPTER 195
ENDO CRINO LO GY
FIGURE 195-2 Growth chart of a g irl with Cushing synd rome . Note the g rowth
arre st in the face of sig ni cant we ig ht g ain, which is typ ical of Cushing synd rome .
(Use d with p e rmission from Camille Sab e lla, MD.)
of the voice, and enlargement of the clitoris in girls can occur

(Figure 195-1).
failure.
(Figure 195-4).
in girls past menarche.

FIGURE 195-3 Round e d face and p romine nt che e ks in a b oy with
Cushing synd rome . (Use d with p e rmission from Cle ve land Clinic
Child re n’s Ho sp ital Photo File s.)
PART 17
ENDO CRINO LO GY
MANAGEMENT
cause of the excess corticosteroids.
removed.
the management of Cushing disease in children is not well established.
removal of the source of corticosteroids until normal adrenal

function returns.
MEDICATIO NS
ACTH release, has been used to treat Cushing disease in adults but
FIGURE 195-4 Striae d ue to Cushing synd rome cause d b y e xo g e nous
g lucocorticoid ad ministration in a 13-year-old b oy. (Use d with permission is rarely successful in children and has unacceptable adverse effects
from Richard P. Usatine , MD.) (weight gain, irritability, and hallucinations).
LABO RATO RY TESTING aminoglutethimide, and etomidate) have been used preoperatively
-
rience using these agents in the treatment of Cushing disease in
usually the rst laboratory ndings in Cushing disease.
children.
suggests the diagnosis. SURGERY
for pituitary Cushing disease in children. 9,10
micrograms of cortisol excreted per gram of creatinine. 11
12
-
sected pituitary adenoma, which can expand and impinge on the
optic nerves and produce melanocyte stimulating hormone to pro-
will not be suppressed in children who have Cushing syndrome.
duce profound hyperpigmentation of the skin; this condition is
patients with cortisol-secreting tumors, but may be normal in

patients with ACTH-secreting pituitary adenomas. 8 REFERRAL
IMAGING
to a pediatric endocrinologist for work-up and close follow-up.
glands and detects virtually all adrenal tumors larger than 1.5 cm in
diameter. PREVENTIO N AND SCREENING
adenomas. -
drome in healthy asymptomatic patients, there may be a role for pru-
dent screening in speci c clinical situations as in patients with growth
cocorticoid therapy are at risk and should be closely monitored.
Children with simple dietary obesity may have similar clinical fea-
tures, such as striae and hypertension, but do not have growth failure.
These children grow more rapidly and are usually tall for their age PRO GNO SIS
(Figure 195-5). Furthermore, the urinary excretion of cortisol is
also often elevated in simple obesity, but salivary nighttime levels of
cortisol are normal and cortisol secretion is suppressed by oral
administration of low doses of dexamethasone. 5-year survival rate.
PART 17
1146 CHAPTER 195
ENDO CRINO LO GY
FIGURE 195-5 Growth chart of a g irl with e xog e nous d ie tary ob e sity. Note the sig -
ni cant incre ase in g rowth ve locity as we ll as we ig ht, which d isting uishe s e xog e nous
ob e sity from Cushing synd rome . (Use d with p e rmission from Camille Sab e lla, MD.)
but about 20 percent of children will have a relapse within 5 years. replacement therapy. These patients should wear medical
alert labels and carry with them a prefilled glucocorticoid
syringe for intramuscular injection when illness develops
FO LLO W-UP
unexpectedly and oral medication administration is not an
option.
required for nonexogenous causes of Cushing syndrome.
PATIENT RESO URCES

PATIENT EDUCATIO N
www.cushingsdisease.com.
www.nlm.nih.gov/ medlineplus/ ency/ article/ 000348
including hypertension, glucose intolerance and emotional distur- .htm.
bance may persist after treatment.
PART 17
ENDO CRINO LO GY

proopiomelanocortin. J Clin Endocrinol Metab.
www.csrf.net/ . -
J Clin Endocrinol Metab

http:// endocrine.niddk.nih.gov/ pubs/ cushings/
cushings.htm. -
dren who are referred for the investigation of Cushing syndrome.
http:// www.pituitary
Pediatrics
.org/ disorders/ cushings_disease.aspx.
transcriptional microadenomectomy. N Engl J Med.

REFERENCES
- -
drome in type-2 diabetes. J Clin Endocrinol Metab. 2003;88:
5808-5813. therapy. N Engl J Med.
disease in children. Findings in 13 cases. Mayo Clin Proc. Transsphenoidal surgery for pituitary tumors. Arch Dis Child.
and adolescents: 20 years of experience in a single neurosurgical

center. Neurosurgery. micronodular adrenal hyperplasia. Surgery
J Neurosurg.
J Clin
children and adolescents following transsphenoidal surgery for Endocrinol Metab.
Cushing disease. J Clin Endocrinol Metab.
biochemical studies of adrenocorticotropin-producing islet cell disease. Eur J Endocrinol. 2005;152:825-833.

PART 17
1148 CHAPTER 196
ENDO CRINO LO GY
196 ADDISO N’S DISEASE

Swathi Ap p achi, BS
PATIENT STO RY
A 14-year-old girl with a history of type I diabetes mellitus is brought

to her pediatrician because of a 2-month history of fatigue, dizziness,
and nausea. On physical exam, she is found to have orthostatic hypo-
tension and the pediatrician notes that she has hyperpigmentation of
dorsum of her hands and over her knees (Figures 196-1 and 196-2).
The pediatrician is concerned about adrenal insuf ciency and
promptly refers the girl to an endocrinologist. The girl is found to
have a low early morning serum cortisol, high serum adrenocortico-
tropin hormone level, and anti-adrenal antibodies, con rming the
diagnosis of primary adrenal insuf ciency.
INTRO DUCTIO N
Addison’s disease refers to dysfunction or hypofunction of the adrenal

cortex which leads to primary adrenal insuf ciency. The adrenal cor-
FIGURE 196-2 Hyp e rp ig me ntation of the skin ove rlying the kne e s in
tex is unable to produce and secrete glucocorticoids (cortisol) and the same g irl as in Fig ure 196-1. (Use d with p e rmission from Cle ve land
mineralocorticoids (aldosterone), leading to an increase in adrenocor- Clinic Child re n’s Hosp ital Photo File s.)
ticotropin hormone (ACTH) and systemic effects in children, such as
fatigue and gastrointestinal symptoms. Hyperpigmentation of the skin
is a distinguishing feature. In children, congenital adrenal hyperplasia
is the most common cause of Addison’s disease (see Chapter 197, EPIDEMIO LO GY
Congenital Adrenal Hyperplasia). The second most common cause of
Addison’s disease worldwide is tuberculosis and other granulomatous 1
disorders. In developed countries, the second most common cause is
autoimmune disease, which is the focus of this chapter. 1
primary adrenal insuf ciency and usually presents during childhood.
~ Other causes include infection, adrenal hypoplasia congenital
SYNO NYMS (congenital adrenal hypoplasia caused by a mutation in the DAX1

gene), and adrenoleukodystrophy. 2
Primary adrenal insuf ciency, adrenocortical hypofunction.
-
mune disorders of other endocrine glands. This condition is known
as autoimmune polyglandular syndrome (APS) and occurs more
~
2
the adrenal gland, leading to destruction of the cortical parenchyma.

~ There is evidence that both humoral and cell-mediated immunity
are involved. 2
-
immune phenomena, especially polyglandular syndromes.
~ APS1 (also known as autoimmune polyendocrinopathy-candidiasis-
FIGURE 196-1 Hyp e rp ig me ntation ove r the d orsal asp e ct of the hand s
in a te e nag e r with p rimary ad re nal insuf cie ncy. (Use d with p e rmission ectodermal dystrophy, or APECED)—This syndrome includes
from Cle ve land Clinic Child re n’s Hosp ital Photo File s.) adrenal insuf ciency, hypoparathyroidism, and chronic
PART 17
ADDISO N’S DISEASE 1149
ENDO CRINO LO GY
mucocutaneous candidiasis. Autosomal recessive mutations in the

autoimmune regulator (AIRE) gene are responsible.
~ APS2 (also known as Schmidt syndrome)—This entity consists
of adrenal insuf ciency, thyroiditis, and diabetes mellitus type 1.

It is more prevalent than APS1. 3
-
sterone, producing the symptoms of Addison’s disease. Low cortisol
also leads to increased synthesis of the prohormone pro-opiomela-
nocortin, which is cleaved to form ACTH and melanocyte stimulat-
ing hormone (MSH). Increased MSH levels in turn lead to increased
melanin synthesis in melanocytes causing hyperpigmentation. 2
RISK FACTO RS
3 FIGURE 196-3 Hyp e rp ig me ntation of the lip , skin, and nails in a child
with p rimary ad re nal insuf cie ncy. (Use d with p e rmission from Strang e
GR, Ahre ns WR, Schafe rme ye r RW, Wie b e RA: Pe d iatric Eme rg e ncy
~ Diabetes mellitus type 1. Me d icine , 3rd e d itio n: http ://www.acce sse me rg e ncyme d icine .com.
Fig ure 77-2.)
~ Graves disease.
~ Hypoparathyrodism.
~ Hypopituitarism.
~ Vitiligo. between primary and secondary adrenal insuf ciency. High ACTH
levels indicate primary adrenal insuf ciency. 4
DIAGNO SIS
of anti-adrenal antibodies, such as adrenal cortex autoantibody or
CLINICAL FEATURES 21-hydroxylase autoantibody, should be measured. 3,4
~ If positive, antibodies against other glands (such as the parathy-
-
roid or thyroid) should be measured to test for APS.
dren are fatigue, nausea, and vomiting. Clinical features of Addi-
~ If negative, the other causes of primary adrenal insuf ciency,
son’s disease are due to hormonal de ciencies. 2–4
such as tuberculosis, adrenoleukodystrophy, or adrenal hypoplasia
congenita, should be ruled out.
hypotension, dizziness, anorexia, weight loss, salt craving, electro-
lyte abnormalities, and dehydration. 2–4
vomiting, diarrhea, and failure to thrive. Severe hypoglycemia can
occur as well. 1,2,4
vomiting, hyponatremia, and hyperkalemia, these symptoms can
exposed to sunlight or pressure, as well as the tongue, gingiva, also be seen in obstructive uropathy, pyelonephritis, or tubuloint-
axillary creases, and scars (Figures 196-1 to 196-3). erstitial nephritis. These can especially occur in infants and occurs
as a result of secondary aldosterone resistance in the kidneys. 4
-
tion of melanocytes that is sometimes seen in autoimmune Addi-
son’s disease, vitiligo and hypopigmentation may actually occur. 2 other causes of primary adrenal insuf ciency, such as congenital
adrenal hyperplasia, infection, drugs, hemorrhage, adrenoleuko-
dystrophy, or adrenal hypoplasia congenita. 2
- MANAGEMENT
ease. Adrenal insuf ciency must be proven with tests of adrenocor-
tical function.
but it can be managed by physiological replacement of cortisol and
be done to establish adrenal suf ciency. In the former, serum corti- aldosterone.
sol is measured at 8 AM, which corresponds with a peak in cortisol
production. Low cortisol indicates adrenal insuf ciency. In the MEDICATIO NS
-
administration of synthetic ACTH (cosyntropin). A low cortisol methasone. In children, the former two are used more often.
response demonstrates adrenal insuf ciency. 4 Hydrocortisone is less potent than prednisone and has a shorter
PART 17
1150 CHAPTER 196
ENDO CRINO LO GY
half-life, allowing for better titration. However, prednisone can be

given less frequently. Normal cortisol secretion in children is esti- PATIENT EDUCATIO N
2
followed closely. 3 -
~ Doses must be increased in times of physiologic stress, such as ill- roids in case of emergency or sudden physiologic stress. A Medic
ness or surgical procedures. Children may not be able to take the Alert bracelet should also be considered.
medication orally during these times, and thus injection of
hydrocortisone is the preferred method of administration. PATIENT RESO URCES
www.nlm.nih.gov/
infants younger than 1 year may require supplementation with www.nadf.us/
sodium chloride. Again, somatic growth should be monitored. 3 diseases/ addisons.htm.
REFERRAL
PMH0001416/ .
PREVENTIO N AND SCREENING http:// emedicine.medscape.com/ article/ 919077.
high index of suspicion in children presenting with nonspeci c REFERENCES

symptoms such as fatigue and gastrointestinal symptoms.
2. Neiman LK, Chanco Turner ML. Addison’s Disease. Clinics in
PRO GNO SIS Dermatology
-
ticoids, most patients with autoimmune Addison’s disease can live and treatment. Curr Opin Endocrinol Diabetes Obes
normal lives. 217-223.
4. Primary adrenal insuf-
FO LLO W-UP management. J Pediatr Child Health
-
gist should be involved with the patient’s care.
PART 17
CO NGENITAL ADRENAL HYPERPLASIA 1151
ENDO CRINO LO GY
197 CO NGENITAL ADRENAL the disorder and may not be apparent until later in life. This chapter
will focus on classic CAH caused by 21-hydroxylase de ciency.
HYPERPLASIA Patients with the salt-wasting variety of congenital adrenal hyperpla-
sia present with failure to thrive, dehydration, vomiting, and
Elumalai Ap p achi, MD, MRCP anorexia. In female infants, virilization of the external genitalia leads
to an early diagnosis; the condition is often diagnosed later in male
infants with the salt-wasting variety (2 to 3 weeks of life) because the
external genitalia may appear normal.
PATIENT STO RY
A 3400-gram infant is being evaluated by the pediatrician after an

SYNO NYMS
uncomplicated term gestation and vaginal delivery. The infant is noted
to have ambiguous genitalia, characterized by clitoromegaly, enlarged Primary adrenal insuf ciency, 21-hydroxylase de ciency, pseudoher-
labia, and no palpable testes. A single urethral/ vaginal opening is present maphroditism.
(Figure 197-1). A diagnosis of congenital adrenal hyperplasia is
suspected based on these ndings. A pediatric endocrinologist is EPIDEMIO LO GY
consulted, who orders a serum 17-hydroxyprogesterone level, which
is markedly elevated, and a rapid karyotype, which reveals a 46 XX
karyotype, con rming the diagnosis of CAH caused by 21-hydroxylase CAH.
de ciency. The infant is treated with glucocorticoids and the parents
receive psychosocial and genetic counseling regarding the diagnosis.
and is one of the most common inborn errors of metabolism. 1–3
INTRO DUCTIO N about fourfold less common in African Americans. 3
Congenital adrenal hyperplasia (CAH) is an autosomal-recessive dis-

order most commonly (95%) caused by 21-hydroxylase de ciency. ETIO LO GY AND PATHO PHYSIO LO GY
Classic CAH refers to the salt wasting and simple virilizing form,
while nonclassic, or late onset CAH, refers to a less severe form of
(steroidogeneses) result in congenital adrenal hyperplasia.
adrenocorticotropic hormone (ACTH), thereby stimulating the

production of adrenal steroids up to and including the substrate for
the defective enzyme. This chronic ACTH stimulation results in
hyperplasia of the adrenal cortex (Figure 197-2).
FIGURE 197-2 Classic ad re nal hyp e rp lasia (CAH) showing loss of the
ne g ative fe e d b ack loop cause d b y imp aire d g lucocorticoid synthe sis,
FIGURE 197-1 Amb ig uous g e nitalia, manife ste d b y clitorome g aly, re sulting in ad re nocorticotrop ic hormone (ACTH) e xce ss re sulting in
e nlarg e d and hyp e rp ig me nte d lab ia, fuse d urog e nital op e ning , in a and rog e n ove rp rod uction. HPA = hyp o thalamic-p ituitary axis. (Use d
female infant with cong enital adrenal hyperplasia. (Use d with p ermission with p e rmission from Kap p y, MD, Alle n DB, Ge ffne r ME: Pe d iatric
from Elumalai Ap p achi, MD.) Practice : End ocrinolo g y: www.acce ssp e d iatrics.com. Fig ure 8-6.)
PART 17
1152 CHAPTER 197
ENDO CRINO LO GY
FIGURE 197-3 Ad re nal ste roid og e ne sis p athway. 21-hyd roxylase e nzyme d e cie ncy le ad s
to accumulation of 17-hyd roxyp rog e ste rone and othe r p re cursors causing ove rp rod uction
of and roste ne d ione and und e rp rod uction of ald oste rone . Ab b re viations: 11O H,
11-Hyd roxylase ; 17O H, 17-hyd roxylase ; 18O H, 18-hyd roxylase ; 21O H, 21-hyd roxylase ;
3β HSD, 3β -hyd roxyste roid d e hyd rog e nase ; 17HSD, 17-hyd roxyste roid d e hyd rog e nase
(17-ke toste roid re d uctase ); DHEA, d e hyd roe p iand roste rone ; DHT, d ihyd rote stoste rone .
(Use d with permission from Cunning ham MD, Eyal FG, Tuttle D: Neonatolog y: Manag eme nt,
Proce d ure s, O n-Call Prob le ms, Dise ase s, and Drug s, 6th e d ition. www.acce ssp e d iatrics
.co m. Fig ure 82-1.)
precursors results in shunting into a pathway for androgen bio- RISK FACTO RS
synthesis, leading to high levels of androstenedione that are
converted outside the adrenal gland to testosterone. The effects
of this shunting begin in affected fetuses by 8 to 10 weeks of
gestation and leads to abnormal genital development in females
(Figure 197-3).
DIAGNO SIS
both of the following pathologic processes:
~ Impaired synthesis of cortisol—Results in increased ACTH
secretion causing accumulation of 17-hydroxyprogesterone and routine test in the neonatal screening program. This is performed
other steroids that can be converted to testosterone. In the male by screening for 17-hydroxyprogesterone (17OHP), which is mea-
fetus with 21 hydroxylase de ciency, the additional testosterone sured using a lter paper blood sample obtained by a heel puncture,
produced in the adrenals has no phenotypic effect. In a female preferably at 2 to 4 days of age. 5
fetus, the testosterone inappropriately produced by the adrenals
of the affected female fetus causes varying degrees of virilization who may be missed on clinical examination. This may prevent
of the external genitalia. adrenal crisis and death and allows earlier gender assignment.
~ Impaired synthesis of aldosterone—Resulting in severe hypona-
tremia, hyperkalemia, and acidosis with concomitant hypoten- CLINICAL FEATURES

sion, shock, cardiovascular collapse, and death in an untreated
newborn infant; this usually develops during the second week
(Figures 197-1 and 197-4). This is manifested by enlargement
of life.
of the clitoris and by partial or complete labial fusion. The
- vagina usually has a common opening with the urethra (urogeni-
sive synthesis of mineralocorticoids such as deoxycorticosterone, tal sinus). The clitoris may be so enlarged that it resembles a
which can cause hypertension. 1,2 penis; because the urethra opens below this organ, some affected
- females may be mistakenly presumed to be males with hypospa-
version or point mutation in CYP21A2 (termed 21b) gene. The dias and cryptorchidism. Hyperpigmentation of the labioscrotal
severity of the manifestations is related to whether the genetic folds is common. The severity of virilization is usually greatest in
mutations are heterozygous or homozygous. 4 females with the salt-losing form of 21-hydroxylase de ciency.
PART 17
CO NGENITAL ADRENAL HYPERPLASIA 1153
ENDO CRINO LO GY
they are rarely used in the diagnostic work-up. 5
IMAGING
absence of a uterus and can often locate the gonads in infants with
ambiguous genitalia.
thorough physical examination to de ne the anatomy of the genita-

lia, locate the urethral meatus, and palpate the scrotum or labia and
the inguinal regions for testes. Palpable gonads almost always indi-
cate the presence of testicular tissue and thus a genetic male infant.
-
tion, and abnormal electrolytes, and should be ruled out by obtain-
ing appropriate cultures (see Chapter 187, Congenital and Perinatal
Infections).
-
tremia and acidosis and can be confused with CAH. Renal work up
FIGURE 197-4 Clitorome g aly and e nlarg e d lab ial fold s in a g irl with including renal ultrasound usually points towards the diagnosis.
cong e nital ad re nal hyp e rp lasia. (Use d with p e rmission from Cle ve land
Clinic Child re n’s Hosp ital Photo File s.)
MANAGEMENT
The internal genital organs are normal, because affected females
have normal ovaries and not testes and thus do not secrete anti-
müllerian hormone. pediatric endocrinologist. 1,2,6,7
anorexia, vomiting, dehydration, shock, hyponatremia, hyperkale- also suppress excessive production of androgens by the adrenal cor-
mia, and azotemia typically at 10 to 14 days of age. Thus, the diag- tex and will minimize problems such as excessive growth, skeletal
nosis may not be made in boys until signs of adrenal insuf ciency maturation, and virilization.
develop. Because patients with this condition can deteriorate
MEDICATIO NS
- doses than are needed in other forms of adrenal insuf ciency.
cortical hormones, due to a highly stimulated adrenal cortex. A very
high serum concentration of 17-hydroxyprogesterone (random or
ACTH-stimulated) is diagnostic of classic 21-hydroxylase de ciency.
7
the genetic sex of the infant, and is an important rst step in diag- SURGERY
nosis and gender assignment.
6 months of age. If there is severe clitoromegaly, the clitoris is
losing type of disease. They are often normal in patients with reduced in size, with partial excision of the corporal bodies and
simple virilizing disease but inappropriately low in relation to the preservation of the neurovascular bundle; however, moderate cli-
ACTH and 17-hydroxyprogesterone levels. toromegaly may become much less noticeable even without surgery
as the patient grows.
testosterone are elevated in affected females; although testosterone
levels in affected males are high in relation to levels seen later in child- performed at the time of clitoral surgery; revision in adolescence
hood, they are not elevated in relation to normal unaffected infants. is often necessary. 8
PART 17
1154 CHAPTER 197
ENDO CRINO LO GY
PREVENTIO N AND SCREENING monitoring.
CAH. This should be discussed with patients at the appropriate age.

affected males until they have severe adrenal insuf ciency, all
-
born screening programs. These programs analyze 17-hydroxy- stress should be discussed with parents and patients.
progesterone levels in dried blood obtained by heel-stick and
absorbed on lter paper cards; the same cards are screened in should be able to administer this in emergency situations (e.g., if
parallel for other congenital conditions such as hypothyroidism the patient is unconscious or has severe diarrhea).
and phenylketonuria. The parents of potentially affected infants
details of their condition and medication.
(electrolytes and repeat 17-hydroxyprogesterone determination)
at approximately 2 weeks of age.
PATIENT RESO URCES
-
www.magicfoundation.org/ www/ docs/ 100.
both parents are known to be heterozygotes) may be given dexa-
methasone as soon as pregnancy is diagnosed, which can suppress www.congenitaladrenalhyperplasia.org.
secretion of steroids by the fetal adrenal, including secretion of www.nadf.us/
adrenal androgens, and may ameliorate virilization of the external diseases/ cah.htm.
genitals in affected females. 9 Chorionic villus biopsy is then per-
formed to determine the sex and genotype of the fetus; therapy is PRO VIDER RESO URCES
continued only if the fetus is an affected female.
PMH0001448/ .
determination and CYP21 gene analysis may permit earlier identi -
www.ncbi.nlm.nih.gov/ pmc/ articles/ PMC3329455/ .
cation of the affected female fetus.
REFERENCES
PRO GNO SIS N Engl J
Med. 2003;349:776-788.
Lancet.
infants will have minimal morbidity and normal longevity with 2005;365:2125-2136.
appropriate medical therapy and surgical restoration, if needed.
screening 1.9 million Texas newborns for 21-hydroxylase-de cient
FO LLO W-UP congenital adrenal hyperplasia. Pediatrics. 1998;101:583-590.
steroid 21-hydroxylase (CYP21). Hum Mutat.1994;3:373-378.

pediatric endocrinologist.
congenital adrenal hyperplasia due to 21-hydroxylase de ciency.
of stress. Hum Reprod Update. 2004;10:469-485.
analysis of growth and puberty in 21-hydroxylase de ciency pa-

PATIENT EDUCATIO N tients. Arch Dis Child. 2002;87:139-144.
-
ment at diagnosis and during infancy in children with salt-losing
on con rmation of diagnosis. 21-hydroxylase de ciency. Eur J Pediatr. 1990;150:22-25.
- -
priate to their age and development, by both their physicians and nal hyperplasia. Endocrinol Metab Clin North Am. 2001;30:137-154.
parents. Information should be communicated sensitively, simply,
and should be repeated at appropriate intervals.
dexamethasone use for the prevention of virilization in pregnancies
at risk for classical congenital adrenal hyperplasia due to 21-
tendency toward male gender role behavior in affected girls. hydroxylase (CYP21A2) de ciency: a systematic review and
meta-analyses. Clin Endocrinol (Oxf). 2010;73:436-444.
PART 17
RICKETS 1155
ENDO CRINO LO GY
198 RICKETS
Di Sun, BS, MPH
PATIENT STO RY
A 2-year-old boy is brought to the pediatrician by his mother, who

reports that the boy appears more irritable lately and does not
seem to be growing. After further questioning, the mother men-
tions that her child has also complained of leg pain and a “wad- FIGURE 198-2 Pro mine nce of the costochond ral junction (rachitic
rosary) in the same child as in Fig ure 198-1. (Use d with p e rmission
dling” gait. On exam, the boy has widening of the wrists and bow- from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
ing of his legs and prominence of the costochondral junctions
(rachitic rosary; Figures 198-1 and 198-2). The pediatrician asks
about the child’s diet, and the mother reveals that the patient is a
very picky eater and drinks only fruit juice that is not forti ed with
INTRO DUCTIO N
vitamin D. The pediatrician is concerned about rickets and orders
a serum alkaline phosphatase, which is elevated, and vitamin D
level (25-OH Vitamin D), which is low. X-ray of the tibia and prior to epiphyseal fusion, resulting in widening of the growth
femur demonstrated widening of the growth plate and metaphysis plates, bone pain, decreased strength of bone, bone deformities, and
(Figure 198-3). The pediatrician prescribes vitamin D and cal- signs of hypocalcemia. 1–3 This condition is primarily due to nutri-
cium supplementation for the child. After 3 months of supplemen- tional de ciency, speci cally vitamin D de ciency, but can also
tation, the boy’s symptoms have resolved and repeat x-ray showed occur with calcium or phosphorus de ciency. There are also heredi-
a dense zone of calci cation at the metaphysis with improvement tary and secondary (renal losses of calcium and phosphate) causes of
in the widened growth plate. rickets. Management of rickets depends on the speci c etiology.
Nutritional de ciencies can be treated with supplementation.
SYNO NYMS
EPIDEMIO LO GY
reports published between 1986 to 2003, there were 166 cases of

documented rickets. 4
78 percent with breastfed infants born in the winter being the most
likely to be vitamin D-de cient. Vitamin D de ciency was associated
with older age, winter season, higher body mass index, African-
American race, and elevated parathyroid hormone as a result. 5
X-linked hypophosphatemic rickets (XLH), which has a prevalence

of 1/ 20,000. 6
or protein matrix, of growing bone (prior to epiphyseal fusion).

The mineral component of bone consists of calcium and phosphate
hydroxyapatite crystals. When there is inadequate mineralization of
FIGURE 198-1 Wid e ning of the wrists, b owe d le g s, b owing of the fore -
arms, and frontal b ossing in a young child with nutritional ricke ts. (Use d growing bone, there is impaired growth at the metaphysis and a
with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.) general decrease in bone strength. 1
PART 17
1156 CHAPTER 198
ENDO CRINO LO GY
A B
FIGURE 198-3 Cup p ing and fraying of the me tap hyse s and b owing of the tib ia and fe mur on (A) b ilate ral and
(B) unilate ral vie ws. (Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
calcium*phosphorus product, which is modulated by vitamin D, disorders such as Crohn disease or other disturbances impairing
parathyroid hormone (PTH), and phosphatonin. fat absorption and thus vitamin D absorption. Chronic kidney
~ The majority of vitamin D is generated from skin following ultra- disease manifests with impaired synthesis of 1,25(OH)2-D,
violet B exposure. Vitamin D can also be obtained from vitamin resulting in vitamin D de ciency.
D2 found in plants and vitamin D3 found in animal products such ~ Vitamin D-dependent rickets type 1 is an autosomal recessive
as milk. Vitamin D is converted to Calcidiol (25(OH)-D) via disorder resulting in a mutation in 1-α -hydroxylase that impairs
25-hydroxylase in the liver. 25(OH)-D is then converted to Cal- 1,25(OH)2-D synthesis. Vitamin D-dependent rickets type 2 is
citriol (1,25(OH)2-D) by 1-α -hydroxylase in the kidneys. also an autosomal recessive disorder characterized by a defect in
1,25(OH)2-D is the active form of vitamin D and upregulates the vitamin D receptor preventing patients from responding
calcium and phosphorus absorption. 2 appropriately to 1,25(OH)2-D. 8
~ Low ionized calcium stimulates PTH release. To maintain cal-
cium homeostasis, PTH increases bone resorption to release cal- products, typically arises in children who are on unconventional
cium from bone, upregulates 1,25(OH)2-D synthesis, and diet or have milk allergies. Phosphorus de ciency rarely occurs
increases phosphorus excretion to decrease the in healthy children, but can arise in anorexics and malabsorptive
calcium*phosphorus product to promote calcium release. 2 processes.
~ Phosphatonins, speci cally broblast growth factor-23 (FGF-23),
are proteins secreted by osteocytes in bone that decrease renal

can also be classi ed into hereditary (X-linked hypophosphatemic
tubular reabsorption of phosphate and 1-α -hydroxylase activity. 7
rickets, autosomal dominant hypophosphatemic rickets, autosomal
recessive hypophosphatemic rickets, and hereditary hypophospha-
in mineralization: vitamin D disorders, calcium de ciency, phos- temic rickets with hypercalciuria) and secondary causes (Fanconi
phorus de ciency, and defects in renal regulation.
PHEX, which inacti-
de ciency), secondary (due to malabsorption or chronic kidney dis- vates the phosphatonin FGF-23. Consequently, there is an increase
ease), or hereditary (vitamin D-dependent rickets type 1 and 2). in FGF-23 expression, which normally inhibits phosphate reabsorp-
~ Nutritional vitamin D de ciencies are due to inadequate sun
tion and 1-α -hydroxylase. This leads to decreased phosphate reab-
exposure; darker-skinned children, and those with decreased sorption and decreased 1,25(OH)2-D production.
dietary intake, are more at risk.
PART 17
RICKETS 1157
ENDO CRINO LO GY
to XLH, increased FGF-23 levels results in decreased reabsorption

of phosphate and decreased 1,25(OH)2-D production.
-
der due to a mutation in dentin matrix protein 1 that also leads to
elevated FGF-23. This is characterized by decreased reabsorption
of phosphate and decreased 1,25(OH)2-D production.
is an autosomal recessive disorder due to a mutation in the sodium-

phosphate channel in the proximal tubule. The subsequent decrease
in serum phosphate stimulates 1,25(OH)2-D production, which
suppresses PTH and increases calcium absorption in the gut result-
ing in hypercalciuria.
proximal tubule reabsorption. These disorders include Fanconi syn-

drome, characterized by generalized dysfunction of the proximal
tubules that cause hypophosphatemia, and renal tubular acidosis,
which can cause impaired calcium reabsorption. 1
can occur when mesenchymal tumors secrete phosphatonins lead-

ing to increased phosphate excretion and low 1,25(OH)2-D.
FIGURE 198-4 Bow-le g g e d ap p e arance of a child with ricke ts. (Use d

RISK FACTO RS with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
factors for developing vitamin D de ciency in children include LABO RATO RY TESTING
being exclusively breastfed, living at higher latitudes (above 40°),
darker skin, decreased sun exposure, older age (adolescence), and
higher body mass index. 2,4,5
phosphatase, a marker of bone turnover, which is increased in all
occur in children with milk allergies, malabsorptive disorders, or forms of rickets.
with unconventional diets. 1
should be ≥50 nmol/ L. If the patient is vitamin D de cient,
disorders, or in children using aluminum-containing antacids. 25(OH)-D will be low while 1,25(OH)2-D ranges from low to
DIAGNO SIS
CLINICAL FEATURES
deformities such as prominence of the costochondral junction

(rachitic rosary), delayed fontanelle closing, softening of cranial
bones (craniotabes), bowing of the legs (genu varum), horizontal
groove demarcating the diaphragmatic insertion (Harrison
groove), waddling gait, and widening of the wrists and ankles
(Figures 198-1, 198-2, and 198-4 to 198-6).
~ Children may complain of bone pain, weakness, or an inability to
walk. Parents may notice failure to thrive or delayed teething.

~ If rickets is due to vitamin D de ciency, children may also be
more irritable and present with signs of hypocalcemia. In infants,

this can include seizures or tetany. In older children, hypocalce- FIGURE 198-5 Pro mine nce of the costochond ral junction (rachitic
rosary) and ind e ntatio n of the lowe r ante rior thoracic wall (Harrison
mia can manifest with apneic spells, hypotonia, hyperre exia, g roove ) in a child with ricke ts. (Use d with p e rmission from Cle ve land
cardiomyopathy, or stridor and wheezing. 2 Clinic Child re n’s Hosp ital Photo File s.)
PART 17
1158 CHAPTER 198
ENDO CRINO LO GY
FIGURE 198-6 Wid e ning of the wrist in the same child as in Fig ure
198-5. (Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital
Photo File s.)
elevated, phosphate is decreased, PTH is increased, and calcium

can be normal to decreased. 2
2-D values should be obtained.
This is elevated in vitamin D-dependent rickets type 2 and
decreased in vitamin D-dependent rickets type 1. 2
PTH, and decreased 1,25(OH)2-D. 2

-
vated PTH, and a compensatory increase in 1,25(OH)2-D. Calcium
is normal to decreased. In phosphorus de ciency, there is normal
calcium, decreased phosphate, decreased to normal PTH, and ele-
vated 1,25(OH)2-D. 2 FIGURE 198-7 Diffuse d e mine ralization of the hand b one s and se ve re
fraying of the me tap hyse s of the wrist b one s in a child with ricke ts.
(Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo
phosphate homeostasis, there is usually normal calcium, decreased File s.)
phosphate with no compensatory increase in 1,25(OH)2-D, normal
PTH, and normal 25(OH)-D. To differentiate among these disor-
elevated creatinine kinase levels (see Chapter 208, Duchenne
phosphate will be elevated in all of these conditions and urinary cal- Muscular Dystrophy).
2
- apparent, along with abnormal thyroid function tests (see Chapter

sis are characterized by decreased phosphate with no compensatory 191, Hypothyroidism).
increase in 1,25(OH)2-D and increased urinary phosphate. 2
towards the diagnosis.
IMAGING
-
and blurring of the demarcation between the metaphysis and growth
plate. As rickets progresses, there is widening of the growth plate
and then of the metaphysis (Figures 198-3 and 198-7). 2
MANAGEMENT

should be made to educate the family regarding the cause.
-
ness, and fracture. However, these patients have joint swelling and NO NPHARMACO LO GIC
Arthritis). help ameliorate the vitamin D de ciency. This needs to be balanced

PART 17
RICKETS 1159
ENDO CRINO LO GY
against the recommendation to keep young infants out of direct

sunlight and using protective clothing to limit direct sunlight nature.
exposure.
hereditary cause.
MEDICATIO NS
≤37.5 nmol/ L) should be suspected.
treated with ergocalciferol and calcium supplementation as per
American Academy of Pediatrics recommendations:2
~ Ergocalciferol (Vitamin D2).
I
-
I
min D de ciency, especially if children are at higher risk or are pre-
I - involves measurement of serum 25(OH)-D and alkaline phospha-
tase. If these return normal, but clinical suspicion is high, x-ray of
I
distal ends of the radius and ulna and the tibia and femur should be
I Calcium obtained. 2
I Thirty to 75 mg/ kg per day calcium divided in 3 doses and
wean toward lower dose of 30 mg/ kg over 2 to 4 weeks.
vitamin D should be initiated. Darker-skinned infants at higher
vitamin D de ciency in adults, is three times more potent than latitudes (above 40° 3 SO R
ergocalciferol and has been suggested as an alternative for the treat-
ment of vitamin D de ciency in children. 9 However, because of
concerns regarding toxicity and the lack of safety data in infants and PRO GNO SIS
children, this is not the standard recommended formulation at this
time.
de ciency will respond well to treatment with correction of radio-
with calcitriol (1,25(OH)2-D) supplementation (0.25 to 2 µg/ day) graphic abnormalities and clinical symptoms.
to maintain a low-normal calcium and high-normal PTH (target
urinary calcium < 4 mg/ kg/ day). 10 depends on the speci c condition.
with high doses of ergocalciferol, calcidiol, or calcitriol (2 µg/ day).

If there is no response to treatment, patients can be treated with IV FO LLO W-UP
calcium. 10
low-phosphate diet, and phosphate binders. 10 follows:

~
2 phosphatase, 25(OH)-D, urine calcium/ creatinine, and x-ray.

1000 mg/ day; ages 9 to 18: 1300 mg/ day ~
- -
temic rickets should be treated with calcitriol (30 to 70 ng/ kg/ day mended by pediatric endocrinology or other specialist.
divided into two doses) and phosphorus supplementation (1 to 3 g
divided into four to ve doses). 11
PATIENT EDUCATIO N
SURGERY
-
be necessary to correct these deformities (e.g., scoliosis). vided regarding the importance of a well-balanced diet with vita-
min D forti ed milk (including soy-milk), green leafy vegetables
REFERRAL (calcium), and adequate dairy products.
if there is no radiographic evidence of healing with current therapy sun exposure with the risk of skin cancer. While children should
after 3 months of vitamin D and calcium supplementation. Always be encouraged to play outdoors and participate in outdoor sports,
consider compliance with therapy, concurrent malabsorptive dis- sun protection can be sensibly applied with sunscreens and protec-
ease, or interactions with other medications (e.g., anticonvulsants,
glucocorticoids). and photoaging. There are many foods and high quality vitamin
PART 17
1160 CHAPTER 198
ENDO CRINO LO GY
supplements for children that include vitamin D, so there is no

reason to send children outside without sun protection to get on Breastfeeding, American Academy of Pediatrics Committee on
vitamin D. Nutrition. Prevention of rickets and vitamin D de ciency in infants,
children, and adolescents. Pediatrics. 2008;122(5):1142-1152.
PATIENT RESO URCES
www.nlm.nih.gov/ medlineplus/ rickets.html.
between 1986 and 2003. Am J Clin Nutr
www.healthychildren.org/ English/ news/ Pages/
Preterm-Infants-Need-Vitamin-D-and-Calcium-
Supplements-Says-AAP.aspx. in the united states: A review of the current evidence. Arch Pediatr
Adolesc Med. 2008;162(6):513-519.
http:// ods.od.nih.gov/ factsheets/
VitaminD-QuickFacts. -
order in humans and mice. Nephrol Dial Transplant. 1999;14(2):
http:// ods.od.nih.gov/ factsheets/
333-341.
Calcium-QuickFacts.
www.choosemyplate.gov/
and phosphate homeostasis: concerted interplay of new regula-
food-groups/ downloads/ MyPlate/ DG2010Brochure
tors. Ann Med. 2008;40(2):82-91.
.pdf.
Proc
Natl Acad Sci. 2004;101:7711-7715.
http:// pediatrics.aappublications.org/ content/ 122/ 2/
398.long.
http:// pediatrics.aappublications.org/ content/ toddlers. J Clin Endocrinol Metab. 2008;93(7):2716-2721.
122/ 5/ 1142.long.
hormone resistance: pseudovitamin D de ciency rickets and he-
Primer on the
REFERENCES
Metabolic Bone Diseases and Disorders of Mineral Metabolism, 6th ed.
Lancet. 2003;362:1389-1400.
and Therapeutics Committee of the Lawson Wilkins Pediatric

- growth and biochemical and radiographic outcome in X-linked
agement: review of current knowledge and recommendations. hypophosphatemic rickets. J Clin Endocrinol Metab. 2003;88:
Pediatrics. 2008;122(2):398-417. 3591-3597.
PART 17
DELAYED PUBERTY 1161
ENDO CRINO LO GY
199 DELAYED PUBERTY testes or ovaries, and autoimmune ovarian function. The diagnosis
is based on demonstrating very high levels of Follicle stimulating
Elumalai Ap p achi, MD, MRCP hormone (FSH).
percent of boys and girls referred for delayed puberty. Underlying

conditions include eating disorders (anorexia or bulimia) and
PATIENT STO RY other chronic systemic illnesses such as in ammatory bowel dis-
ease, celiac disease, cystic brosis, and hypothyroidism. Excessive
A 14-year-old boy with an unremarkable medical history presents to exercise is a relatively common cause of delayed menarche in girls.
his pediatrician with concerns about his short height and lack of Although body fat is decreased in those affected, BMI is often in the
pubertal development as compared to his peers. His father relates to normal range because of an increase in muscle mass.
the pediatrician that he was a “late bloomer.” His height has been pro-
gressing along the 5th percentile and his weight has been at the 10th
percentile. His physical exam reveals Tanner stage 1 and prepubertal Two types occur: (1) Isolated gonadotrophin de ciency (IGD) or
sized testes, but is otherwise normal. The pediatrician makes the
diagnosis of constitutional delay of growth and puberty, reviews the ~ Most boys who have not had spontaneous pubertal development
expected growth and development with the family, and recommends by 18 years or girls by 16 years have PHH, if they do not have
watchful waiting (Figure 199-1). The boy begins spontaneous sexual risk factors for FHH.
development at 15 years of age and his growth velocity increases ~ About half of boys with delayed puberty due to PPH also have
shortly thereafter. defective smell (anosmia or hyposmia), which is called Kallman
syndrome. The most common form is due to a mutation in a
gene on the X chromosome.
INTRO DUCTIO N ~ Acquired MPHD is caused by tumors of the hypothalamic-
pituitary axis or a head and neck tumor requiring radiation
Delayed puberty is de ned as a lack of initiation of secondary sexual therapy with the pituitary gland in eld of radiation. Rarely an
development in boys 14 years or older and in girls 13 years or older. in ltrative process such as Langerhans cell histiocytosis can be a
The majority of boys with delayed puberty have constitutional delay cause of acquired MPHD.
of growth and puberty (CDGP), de ned on the basis of a normal
physical examination and a growth chart showing short stature but
normal growth velocity. Pathologic delayed puberty may be due RISK FACTO RS
to primary endocrine disorders such as gonadal failure, isolated
gonadotrophic de ciency, panhypopituitarism, or chronic underlying
diseases. CDGP has at least one parent with pubertal delay and inheritance is
often autosomal dominant. 1
EPIDEMIO LO GY
pubertal delay.
sexes, but it can be diagnosed only after any underlying pathologic

causes have been ruled out. 1 delay.
gonadal failure, is more common in girls. DIAGNO SIS
risk for functional hypogonadotrophic hypogonadism.

teenagers about eating habits, pubertal delay and chronic illnesses.
A complete physical examination including Tanner staging of breast
ETIO LO GY AND PATHO PHYSIO LO GY development in girls and genital development in boys must be
done.
puberty in both sexes. The cause is unknown but a genetic predis- visit is important.
position with an autosomal dominant effect as well as environmen-
tal modi ers is likely. 1–3 provided in Figure 199-2.
- -
drome, gonadal dysgenesis, chemotherapy, or radiation therapy to tic testing, especially to rule out primary gonadal failure.
PART 17
1162 CHAPTER 199
ENDO CRINO LO GY
FIGURE 199-1 Gro wth chart of a b oy with classic constitutional d e lay in g rowth and p ub e rty
(CDGP). (Use d with p e rmission from Camille Sab e lla, MD.)
CLINICAL FEATURES
eating disorder or may be due to high level of exercise.
growth chart but have normal growth velocity of 4 to 6 cm per
year (Figure 199-1). re ects adrenal androgen secretion. Girls who have not had men-
arche within 3 years of breast development require an evaluation
growth velocity and have delayed puberty (Figure 199-3). for delayed puberty.
High arched palate, webbing of neck, shield-like chest, and wide
spaced nipples are the most common associated ndings (Figure LABO RATO RY TESTING
199-4). -
izing hormone [LH]), FSH for all and testosterone in boys and
PART 17
ENDO CRINO LO GY
FIGURE 199-2 Diag nostic e valuation of d e laye d p ub e rty among b oys at 14 ye ars and g irls at 13 ye ars. (Use d with p e rmission from Rud olp h CD,
Rud olp h AM, Liste r GE, First LR, Ge rshon AA: Rud olp h’s Pe d iatrics, 22nd e d ition: www.acce ssp e d iatrics.com. Fig ure 541-4.)
estradiol in girls) may be indicated depending on the speci c clini-

cal features. 3 start and can be offered a brief course of sex steroids (intramuscu-
lar testosterone for boys and oral estradiol for girls) to trigger
and cystic brosis are useful testing for children with underlying growth spurt and pubertal development. This is a safe and effec-
chronic illness. tive approach that appears to have no negative impact on adult
height. 4,5
~ The largest published randomized trial of testosterone for
IMAGING
CDGP was done in Egypt and included 148 boys aged 14 to
-
18 years who were given monthly injections of testosterone
tiate benign from pathologic short stature and to predict adult height.
enanthate for 6 months and a control group of 50 untreated
DIFFERENTIAL DIAGNO SIS which time the treated group had a more advanced growth rate,
more advanced genital development, and a larger mean testicu-
lar diameter, than the control group. All of the treated boys,
Figure 199-2. but only 40 percent of the untreated boys, reported satisfaction
with the result. 6
~ A randomized, placebo-controlled trial involving 40 patients
MANAGEMENT with constitutional delay of growth and puberty treated with pla-
cebo or oxandrolone for 1 year reported that the treated group
- grew an average of 9.5 cm versus 6.8 cm in the placebo group
7
lescents with CDGP.
option, especially if the child is not distressed about his or her primary gonadal failure can be treated with long-term sex steroid
8
delayed development or short stature.
PART 17
1164 CHAPTER 199
ENDO CRINO LO GY
FIGURE 199-3 Growth chart of a g irl with Turne r synd rome who has d e laye d p ub e rty.
Note the d e cre ase in g rowth ve locity, which is characte ristic of a p atholog ic e tiolog y.
(Use d with p e rmission from Camille Sab e lla, MD.)
~ Boys and girls with pubertal delay and severe short stature or
ongoing treatment with sex steroids to maximize nutrition and growth failure.
development.
CO NSULTATIO N
FO LLO W-UP
an endocrinologist for further evaluation:
~ Boys who have not started puberty by age 16 to 17 years old, as -
they are less likely to have CDGP. ment, to make sure that they are still growing appropriately and to
~ Boys who have CDGP but do not start puberty within 6 months verify that puberty is progressing (breast enlargement in girl; penis
of receiving testosterone therapy. and testicular enlargement in boys).
~ Girls who have not started puberty by age 14 or 15 years or who
have gonadal failure or elevated FSH levels. for pubertal changes.

PART 17
ENDO CRINO LO GY
radiograph to reassure the family and patient that there is still

ample time to grow.
growth and jump start puberty for boys anxious to start growing
and developing sooner.
the family may be advised that puberty is likely to progress if the

child is able to gain signi cant weight.
PATIENT RESO URCES

www.healthychildren.org/ English/ ages-stages/ grade-
school/ puberty/ Pages/ Delayed-Puberty.aspx.
http:// children.webmd.com/ growth-delay-
constitutional.
http:// kidshealth.org/ teen/ sexual_health/ changing_
body/ delayed_puberty.html.

www.nejm.org/ doi/ full/ 10.1056/ NEJMcp1109290.
www.ncbi.nlm.nih.gov/ pubmed/ 11932291.
FIGURE 199-4 De laye d p ub e rty in a g irl with Turne r synd rome . Note
the short stature , b ro ad shie ld like che st, wid e sp ace d nip p le s, and REFERENCES
mild we b b ing of the ne ck. (Use d with p e rmission from Cle ve land Clinic
Child re n’s Hosp ital Photo File s.) 1. Sedlmeyer IL, Palmert MR: Delayed puberty: analysis of a large
case series from an academic center. J Clin Endocrinol Metab.
Pediatr Rev
3. Palmert MR, Dunkel L: Clinical practice. Delayed puberty.
PRO GNO SIS
N Engl J Med
- 4. Harrington J, Palmert MR: Clinical review: Distinguishing consti-
longed follow-up or more quickly after a brief course of sex tutional delay of growth and puberty from isolated hypogonado-
steroids. tropic hypogonadism: critical appraisal of available diagnostic tests.
or history of gonadal failure and supported by increased FSH levels 5. Crowne EC, Shalet SM, Wallace WH, Eminson DM, Price DA:
will generally need long term sex steroid replacement. They will Final height in boys with untreated constitutional delay in growth
usually grow well and develop appropriate secondary sexual char- and puberty. Arch Dis Child.
acteristics but are unlikely to be fertile. 6. Soliman A, Abdul Khadir MM, Asfour M: Testosterone treatment
in adolescent boys with constitutional delay of growth and
puberty. Metabolism. 1995;44:1013-1015.
7. Wilson DM, McCauley E, Brown DR, et al. Oxandrolone therapy
PATIENT EDUCATIO N in constitutionally delayed growth and puberty. Pediatrics 1995;
96:1095-1100.
8. Richman RA, Kirsch LR: Testosterone treatment in adolescent
be reassured that the condition is a variation of normal develop- boys with constitutional delay in growth and development.
ment and that, in most cases, it resolves with time. N Engl J Med. 1988;319:1563-1567.
PART 17
1166 CHAPTER 200
ENDO CRINO LO GY
200 PRECO CIO US PUBERTY gonadal axis leading to secondary sexual characteristics. Peripheral
precocious puberty refers to GnRH-independent activation.
SYNO NYMS
PATIENT STO RY Early puberty.
A 4-year-old Caucasian girl presents to her pediatrician because of

early development of breast buds, pubic hair, and body odor. On EPIDEMIO LO GY
exam, the girl is noted to have Tanner stage 3 breast buds and pubic
hair. She is also noted to have clitoromegaly (Figure 200-1). The
pediatrician refers the girl to a pediatric endocrinologist, who orders
a bone age, estradiol levels, and an MRI of the brain. The girl is found
to have an advanced bone age of 7 years, and levels of estradiol con-
sistent with her stage of sexual development. An MRI of the brain is an earlier age than Caucasian girls. Thus, age of evaluation of pre-
normal. She is diagnosed with idiopathic central precocious puberty. cocious puberty in girls depends on ethnicity and race.
The options for management are discussed with the family.
-
INTRO DUCTIO N ogy; it can present as early as the rst month of life.
The age at which puberty begins in normal children varies among the
different ethnic groups. Early, or precocious puberty, is de ned as the ETIO LO GY AND PATHO PHYSIO LO GY
onset of sexual development occurring before the age of 7 years in
Caucasian girls, 6 years in African American girls, and 9 years for all Central or GnRH-dependent precocious puberty may be idiopathic
boys. Central precocious puberty refers to gonadotropin-releasing hor- or may be caused by a central nervous system (CNS) abnormality. 3,4
mone (GnRH)-dependent activation from the hypothalamic-pituitary-
This diagnosis is one of exclusion, in that no clinical, biochemical,
or radiologic abnormalities are present other than those of preco-
cious puberty.
-
cent of boys with precocious puberty.
a hypothalamic hamartoma. This is a GnRH-producing nonmalig-

nant congenital mass that causes pulsatile secretion of gonadotro-
pins leading to stimulation of the gonads during childhood.
-
loma, astrocytoma, ganglioneuroma, ependymoma, and optic glioma,
or congenital malformations such as ventricular and arachnoid cysts.
such as acute head injury, hydrocephalus, CNS infection, or cranial

radiation therapy can cause central precocious puberty.
Causes of GnRH-independent precocious puberty include:6
encoding the α -subunit of the stimulatory G-protein resulting in

autonomous hypersecretion of hormones. It may be associated with
other endocrine abnormalities including hyperthyroidism, hyper-
cortisolism, hypersomatotropism, and hypophosphatemia.
FIGURE 200-1 Pub ic hair d e ve lop me nt and clitorome g aly in a 4-ye ar-
old g irl with ce ntral id iop athic p re cocious p ub e rty. (Use d with p e rmis- for same sex) or heterosexual (changes appropriate for opposite
sion from Elumalai Ap p achi, MD.) sex) pubertal changes.
PART 17
PRECO CIO US PUBERTY 1167
ENDO CRINO LO GY
tumor, may manifest as isosexual precocious puberty in young

boys.
-
izing hormone receptor-activating mutation resulting in signi cant
enlargement of penis without enlargement of testes.
β -hydroxylase), or 3β -HSD enzyme. Can presents in

early childhood with bone age advancement; usually isosexual in
boys and manifests as pubic hair development, acne, body odor,
and increased penis size without testicular enlargement; usually
heterosexual (virilizing features) in girls.
isosexual in boys and heterosexual (virilizing) in girls.
such as chorioblastoma, hepatoblastoma, germinoma of the pineal

gland. Mainly occur in boys and result in testosterone production
in the testes.
anabolic steroids) or topical agents. Estrogens are readily absorbed
breast-augmentation creams can cause breast development in girls FIGURE 200-2 Enlarg e me nt of the p e nis and p ub ic hair d e ve lop me nt
and gynecomastia in boys. in a 5-ye ar-old b oy with p re cocious p ub e rty. (Use d with p e rmission
from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
boys and girls.
RISK FACTO RS 9 years are signs of early puberty in boys (Figures 200-2 and
200-3).
~ Enlargement of the testes is followed by enlargement of the
penis, appearance of pubic hair, and acne. Erections are common

and nocturnal emissions may occur. The voice deepens and linear
growth is accelerated.
~ In boys with central precocious puberty testicular size is dispro-
early malnutrition followed by normal or excessive nutrition with portionately greater than penile size. In peripheral precocious
resultant advancement of pubertal age. puberty penile dimensions are disproportionately greater than
testicular size.
DIAGNO SIS adult height is reduced owing to premature fusion of epiphyses (tall
child but short adult).
clues as to the etiology and guide the evaluation. Tanner (sexual mat-
uration rating) charts should be used to stage pubertal development.
if a CNS abnormality is the cause.
CLINICAL FEATURES
Caucasian girls or age 6 years in African American girls, or the be present.

onset of menarche before age 9 years are the signs of early puberty.
~ The rst sign of early puberty in girls is breast development; ~ Myxedema in hypothyroidism.
pubic hair may appear simultaneously, but more often appears ~ Café-au-lait spots in neuro bromatosis.
later. Maturation of the external genitals, the appearance of axil- ~ -
lary hair, and the onset of menstruation follow. Clitoromegaly cious puberty in affected girls is 3 years and may present with
may be present. The early menstrual cycles may be more irregu- breast development and vaginal bleeding. Patients have
lar than with normal puberty (Figure 200-1).
PART 17
1168 CHAPTER 200
ENDO CRINO LO GY
precocious puberty. This should be done in all boys and girls less
than 6 years of age.
evaluate the adrenal glands and ovaries for tumors and cysts if non-
central precocious puberty is suspected based on the physical exam.
development, but without any other features of puberty such as pubic

or axillary hair, or linear growth acceleration (Figure 200-4). Typi-
-
lated pubic or axillary hair and odor, but without any other evidence
-
vanced.
periods) without any other manifestations of puberty. This is a benign

process of unclear etiology.
is present at birth and persists.

FIGURE 200-3 Enlarg e d p e nis and te ste s in a 2-ye ar-old b oy with
p re cocious p ub e rty. (Use d with p e rmission from Cle ve land Clinic
Child re n’s Hosp ital Photo File s.)
estradiol in girls) levels are generally determined.

~
must be interpreted in relation to clinical ndings, bone age,

and sex hormone levels. Single determinations are usually
inadequate.
~ Gonadotropin-releasing hormone (GnRH) stimulation test with
gonadal hormones (estradiol in girls; testosterone in boys) are

generally more useful than single random measurements.
~ In precocious puberty, serum levels of testosterone and estradiol
are appropriate for the child’s level of sexual development but
not appropriate for the chronological age.
suspected.
pathology is suspected.
is suspected.
IMAGING
FIGURE 200-4 Pre mature the larche (e arly b re ast b ud s) in a 2-ye ar-old
g irl who has no othe r sig ns of se xual d e ve lop me nt or p ub e rty. (Use d
chronologic age in children who have true precocious puberty. with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
PART 17
PRECO CIO US PUBERTY 1169
ENDO CRINO LO GY
in children who have been diagnosed before age 6 years. These
between ages 6 and 8 years. With GnRH analog treatment, the

estradiol are generally low and not diagnostic.
adult height of children with central precocious puberty is 8 to
prepubertal.
-
mas, as these congenital lesions generally do not require
- surgery.
cocious puberty, so continued observation is important.
puberty do not respond to GnRH agonist therapy. Treatment of
or acne without other signs of puberty or virilization before the age these children relies on eliminating the underlying cause of estro-
gen or androgen excess.
without other evidence of maturation.
and scrotal area in boys; axillary hair generally appears later. It is have been conducted. Most of the agents have shown inadequate
more frequent in children with CNS abnormalities. ef cacy or have been associated with increased ovarian or uterine
size.
-
ration. precocious puberty may help preserve bone mass density. SO R
-
stenedione) level may be slightly elevated, but appropriate for SURGERY
pubic Tanner stage. -
tion, size, and type of lesion.
follow-up suggests that girls with premature adrenarche are at a -
gically.
hyperandrogenism, and polycystic ovarian syndrome as adults. -
gery, radiation and chemotherapy.
MANAGEMENT REFERRAL
and treatment of children with precocious puberty.

on delaying sexual maturation until the normal age of onset of
puberty, and prevent short stature in adulthood by delaying the
premature epiphyseal fusion.
when the source is removed. sexual maturation are important in detecting early puberty.
-
ously without treatment.
PRO GNO SIS
MEDICATIO NS
puberty. These drugs provide constant serum concentrations of

GnRH activity, which in turn overrides the pulsatility of endoge- of the predicted height, although the actual adult height of patients
nous GnRH. SO R followed to epiphyseal closure is approximately one standard devi-
ation below the midparental height.
administered by injection or subcutaneous implant. Injections are -
painful and a common complication is the development of sterile quately suppressed because of noncompliance, inappropriate dose,
abscesses. or frequency of administration.
PART 17
1170 CHAPTER 200
ENDO CRINO LO GY
REFERENCES
FO LLO W-UP
Pediatr Rev
N Eng J
follow-up is required to ensure suppression of the hypothalamic- Med.
pituitary-gonadal axis, tolerance to the medication, and adherence
to the medication regimen. evaluation of precocious puberty. J Clin Endocrinol Metab
-
sion of the problem.
review of literature. J Obstet Gynecol Neonatal Nurs.
-
logical and surgical aspects. Childs Nerv Syst
PATIENT RESO URCES precocious puberty: neoplastic causes and endocrine consider-
/ ations. Int J Pediatr Endocrinol
.
. the use of gonadotropin-releasing hormone analogs in children.
Pediatrics.
.
depot leuprolide doses in the treatment of central precocious
puberty. J Pediatr
/ histrelin subdermal implant in children with precocious puberty:
. a multicenter trial. J Clin Endocrinol Metab
/ . J Clin
Endocrinol Metab
PART 18
NEURO LO GY
St re ng t h o f
(SO R) De nit io n

PART 18
1172 CHAPTER 201
NEURO LO GY
201 HEADACHE in children. 1

1
PATIENT STO RY 1
A 15-year-old girl presented to the of ce with her mother to

discuss her migraines. She has episodic unilateral throbbing headaches
accompanied by nausea, photophobia, and phonophobia. She also ETIO LO GY AND PATHO PHYSIO LO GY
reports a visual prodrome, characterized by a jagged line pattern
(Figure 201-1). She used to have a migraine about every 3 months,
but is now having one almost every week. She misses a day of school are migraine and TTH. 3
with each migraine. She is not under any unusual stressors. Her mother
has migraines and bene tted greatly from taking a prophylactic peripheral afferent neurons in head and neck muscles.
medication. -
cessing dysfunction, which is genetically in uenced. 5 Nociceptive
input from the meningeal vessels is abnormally modulated in the
INTRO DUCTIO N dorsal raphe nucleus, locus coeruleus, and nucleus raphe magnus.
More than 50 percent of children report a headache in the past year. scan during an acute attack.
Headaches are either primary or secondary and the presence or -
absence of red ags is useful to distinguish dangerous causes of sec- lamic involvement, but the inciting mechanism is unknown. 6
ondary headaches. The most common primary headaches are tension
and migraine headaches. Medication overuse can complicate headache
therapy. Treatment and prognosis is dependent on type of headache.
RISK FACTO RS
EPIDEMIO LO GY
peaking between ages 11 and 13. DIAGNO SIS
A headache diary is helpful for diagnosis and follow-up.

year. 1
CLINICAL FEATURES
3
~ Worst headache of life.

~
~ Increase in severity or frequency of headache.

~ Headache occurring only in the morning with severe vomiting.
~ Headache worsened with Valsalva.
~
(Figures 201-2 to 201-4).

~ Headache located in the occipital region.
pressure (nonpulsating) type pain without nausea or vomiting, not

aggravated by exertion, and rare photophobia or phonophobia,
occurring less than 15 days per month. 7
moderate-to-severe headache, often with visual prodrome or visual

eld defects, lasting 13
FIGURE 201-1 Jag g e d line p atte rn p rod rome ofte n d e scrib e d in accompanied by nausea or emesis or photophobia and phonopho-
p atie nts with mig raine he ad ache s. This is calle d te ichop sia and may
re se mb le the forti cation p atte rn of a me d ie val to wn. (Use d with p e r- bia. 7
mission from Richard P. Usatine , MD.) lightheadedness, dif culty thinking, or fatigue. 3
PART 18
HEADACHE 1173
NEURO LO GY
FIGURE 201-2 Intracranial ab sce ss in the le ft frontal p ole on b rain MRI FIGURE 201-4 Diffuse ische mic chang e s in the rig ht ce re b ral he mi-
as a comp lication of sinusitis in a 14-ye ar-old b oy who p re se nte d with a sp he re s with p atchy are as of ische mia in the le ft frontal and te mp oral
se ve re he ad ache and focal ne urolog ical sig ns. (Use d with p e rmission lob e s on b rain MRI in a young child with p ne umococcal me ning itis.
from Camille Sab e lla, MD.) This child p re se nte d with fe ve r, se ve re he ad ache and le tharg y. (Use d
with p e rmission from Camille Sab e lla, MD.)
in patient without a history of a headache disorder; patient often

remembers exactly where and when the headaches started.
~ ~ -
while associated symptoms decrease; resembles tension headache tions, often associated with ipsilateral autonomic features.
with occasional typical migraine; often accompanied by medica-
tion overuse. acute medications, such as triptans or opiates are taken more than
~
10 days a month, or analgesics more than 15 days a month, for
more than 3 months. 7
-
nomic cephalgias; can be episodic or chronic; sharp stabbing unilat-
eral pain in trigeminal distribution, lasting 15 minutes to 3 hours,
with ipsilateral autonomic features. Typically occurs in children
over age 10 years, but has been reported in younger children. 3
headache localized to facial and cranial areas.
-
pected.
IMAGING
FIGURE 201-3 Pap ille d e ma on fund oscop ic e xaminatio n in an ad ole s-
ce nt, sig nifying incre ase d intracranial p re ssure . (Use d with p e rmission
from Paul Rychwalski, MD.) Figures 201-2 to 201-4).
PART 18
1174 CHAPTER 201
NEURO LO GY
frequency. 8
DIFFERENTIAL DIAGNO SIS asthma in children with atopic disorders. 8
music therapy, and lifestyle modi cation may also be useful.

chronic daily headache.
Cluster Headache
substance use, systemic illnesses/ infections, metabolic disorders,
or sinus or eye disorders. ~ Inhaled high- ow oxygen 10 to 15 L per minute. 6
~ Sumatriptan nasal spray or subcutaneous is an off-label use in
headache, but may also accompany a secondary headache. children, but may be effective. 8
~
8
MANAGEMENT
8 surgical therapies.
Medication Overuse Headaches
their daily headaches. 10

10
REFERRAL
stress. is inadequate.
dif cult to treat.

Episodic TTH
~
PREVENTIO N
8
effective treatments for acute episodes.
~ Avoid opiates.
~ Limit acute medications to less than 3 times a week to reduce the patients to limit simple analgesics to less than 15 days per month;
risk of medication overuse headache. limit triptans and combination medications to less than 10 days per
month.
~ Amitriptyline 1 mg/ kg/ day may be effective.
~
~Acupuncture may be helpful.

Migraine Headache
PRO GNO SIS
~ Start with simple analgesics. Acetaminophen and ibuprofen are
often effective. 8
8
~
often reduced with prophylactic treatment.
~
-
fail the preceding therapies. Sumatriptan nasal spray, rizatriptan aches as adults.
5 mg tablets and wafers, and zolmitriptan have been shown to be
effective. 8
chronic form. 6
3 times a month and have a negative impact on their lives or to

decrease risk of developing medication overuse headache when fre-
quency requires use of simple analgesics more than 15 days a month
FO LLO W-UP
or use of opioids, triptans, or combination analgesics more than
10 days a month. -
~
ation and management.
each demonstrated greater than 50 percent reduction in migraine type and severity of headache and response to therapy.
PART 18
HEADACHE 1175
NEURO LO GY
REFERENCES
PATIENT EDUCATIO N
J Headache Pain.
Advise patients to limit frequency of acute medications to less than
headache. J Headache Pain.
PATIENT RESO URCES

National headache foundation has information for patients on
J Headache Pain
www.headaches.org/ education/ Headache_ BMJ
Topic_Sheets/ Migraine.
www.headaches.org/
education/ Headache_Topic_Sheets/ Analgesic_ pharmacological treatment options. BMC Med.
Rebound. Orphanet J Rare Dis.
www.headaches.org/ education/
Headache_Topic_Sheets/ Cluster_Headaches. -
www.headaches.org/ -
education/ Headache_Topic_Sheets/ New_Daily_Per- Cephalalgia.
sistent_Headache.
J Headache Pain.
-
www.icsi.org/ guidelines_and_more/ gl_os_prot/

impairment, common comorbidities, and quality of life. Mayo Clin
other_health_care_conditions/ headache/ headache__
Proc.
diagnosis_and_treatment_of__guideline_.html.
Eur J Neurol.
http:// ihs-classi cation.org/ en/ 02_klassi kation/ .
PART 18
1176 CHAPTER 202
NEURO LO GY
202 BELL’S PALSY mouth. Treatment is eye protection. Treatment with oral steroids is
standard of care in adults, but controversial in children. Prognosis for
He id i Chumle y, MD full recovery is excellent.
SYNO NYMS
PATIENT STO RY
Idiopathic facial paralysis.
A teenage girl was brought in by her parents because she was unable
to move the left side of her face for the past 2 days. She had no his-
tory of trauma or recent ear infections and was otherwise well. On
EPIDEMIO LO GY
examination it was found that she had absent brow furrowing, weak
eye closure, and dropping of the angle of her mouth (Figure 202-1).
She had a normal complete blood count and serum glucose. She was children.
diagnosed with Bell’s palsy and was provided eye lubricants and guid-
ance on keeping her left eye moist. Her physician discussed the avail-
able evidence about treatment with steroids and the excellent prog-
nosis without treatment in children. She (with her parents in such as trauma, diabetes mellitus, polyneuritis, tumors, or infec-
agreement) chose not to take the steroids. She had a full recovery tions such as herpes zoster, leprosy (Figure 202-2), or Borrelia. 2
over the next several weeks.

INTRO DUCTIO N
Bell’s palsy is an idiopathic paralysis of the facial nerve resulting in the prevailing theory suggests a viral etiology from the herpes
loss of brow furrowing, weak eye closure, and dropped angle of family.
expression, taste bers to the anterior tongue, pain bers, and

secretory bers to the salivary and lacrimal glands.
of the face are affected (Figure 202-1). In upper motor neuron

lesions (e.g., cortical stroke), the upper third of the face is spared,
FIGURE 202-2 Be ll’s p alsy se cond ary to le p rosy. The hyp op ig me nte d
FIGURE 202-1 Be ll’s p alsy for 2 d ays in a te e nag e g irl. Note the loss of p atche s on his face are furthe r sig ns of the le p rosy. He also is Cushin-
b row furrowing and d rop p e d ang le of the mouth on the affe cte d le ft g oid from the p re d nisolone b e ing use d to tre at the immunolog ical
sid e of he r face d e monstrate d d uring a re q ue st to smile and raise he r re action to his le p rosy tre atme nt. (Use d with p e rmissio n from Richard P.
e ye b rows. (Use d with p e rmission from Richard P. Usatine , MD.) Usatine , MD.)
PART 18
BELL’S PALSY 1177
NEURO LO GY
-
tion of the orbicularis, frontalis, and corrugator muscles, which MANAGEMENT
allows sparing of upper face movement.
NO NPHARMACO LO GIC
DIAGNO SIS the eyelid. SO R

CLINICAL FEATURES
MEDICATIO NS
furrowing, weak eye closure, and dropped angle of mouth.
palsy found no controlled trials and recommended further trials to
determine the role of steroids in children. 3
patients with systemic corticosteroids. Steroids signi cantly

decrease a patient’s risk for incomplete recovery from 33 to
SO R
~
-
-
intravenously.
factors.
medications. There is no signi cant bene t from acyclovir or vala-
IMAGING cyclovir when compared to placebo. Antivirals are less likely than
steroids to produce complete recovery. SO R
presentations.
REFERRAL

treating Bell’s palsy with surgery. It is possible to restore some
facial movement with specialized surgical procedures including
regional muscle transfer and microvascular free tissue transfer.
~
SO R
~
PRO GNO SIS
middle ear.
~
Prognosis for full recovery is excellent.
~
facial nerve tumor.

- FO LLO W-UP
rowing, eye closure, and blinking.
in diabetes mellitus. reconsider diagnosis if there has been no recovery.
drooping of the upper eyelid (ptosis). The affected eye may deviate
out and down in straight-ahead gaze; adduction is slow and cannot PATIENT EDUCATIO N
-
ward gaze is attempted, the superior oblique muscle causes the eye
to adduct. The pupil may be normal or dilated; its response to for adults but remains controversial in children.
direct or consensual light may be sluggish or absent (efferent
defect). Pupil dilation (mydriasis) may be an early sign. 3 weeks.
PART 18
1178 CHAPTER 202
NEURO LO GY
PATIENT RESO URCES REFERENCES
and clinical features of Bell’s palsy among children in Northern

www.familydoctor.org. Neuroepidemiology
Bell’s Palsy Overview http:// familydoctor
.org/ familydoctor/ en/ diseases-conditions/ Sunnybrook, House-Brackmann, and Yanagihara facial nerve
bells-palsy.html. grading systems in Bell’s palsy. Otol Neurotol.
http:// www.ninds.nih.gov/ disorders/ bells/ bene t from steroid treatment? A systematic review. Int J Pediatr
bells.htm. Otorhinolaryngol
PRO VIDER RESO URCES Bell’s palsy (idiopathic facial paralysis). Cochrane Database Syst Rev.
http:// onlinelibrary.wiley.com/ doi/ 10.1002/ Bell’s palsy (idiopathic facial paralysis.) Cochrane Database Syst Rev.
14651858.CD001942.pub4/ full.
// onlinelibrary.wiley.com/ doi/ 10.1002/
14651858.CD001869.pub4/ full. paralysis. Facial Plast Surg.
PART 18
SUBDURAL HEMATO MA 1179
NEURO LO GY
203 SUBDURAL HEMATO MA

PATIENT STO RY
A 2-month-old previously healthy male infant was brought in by his

mother after a seizure. She noted that he had seemed irritable and
was not feeding well several hours prior to the seizure. She denied
any trauma or fever. On examination, retinal hemorrhages were
noted, but there were no other signs of trauma, and no signs of infec-
tion. The child was irritable, lethargic, and had poor tone. An emer-
gent non-contrast CT was obtained and demonstrated a subdural
hematoma (Figure 203-1). Neurosurgery was consulted and the
infant underwent emergency craniectomy and evacuation of the sub-
dural hematoma (Figure 203-2). An evaluation for child abuse was
initiated.
FIGURE 203-2 CT of the b rain of the same 2-month-old infant as in
Fig ure 203-1 afte r cranie ctomy and e vacuation o f the sub d ural he ma-
INTRO DUCTIO N toma. Note the marke d d e cre ase in mass e ffe ct. (Use d with p e rmission
Subdural hematomas (SHs) can occur at any age, but are most com-
mon in infants. Most SHs are caused by trauma. Symptoms are gener-
ally nonspeci c such as irritability or poor feeding in infants and con-
fusion or headaches in older children. Treatment is prompt EPIDEMIO LO GY
consultation with a neurosurgeon.
1
Kingdom population studies. 2
approximately 22 percent. 3
from a direct injury to the head or shaking injury in an infant.
most common causes of traumatic SH.
cortical surface and interhemispheric bridging veins. 2

-
ral space, resulting in an acute SH as seen in Figure 203-1. 2
blood in an SH; water is drawn into the collection causing hemodi-

lution, which appears less white and more gray on noncontrast
FIGURE 203-1 Larg e acute le ft he misp he ric sub d ural he matoma CT. 2
with le ft to rig ht mid line shift on CT scan of the b rain in a 2-month-
old infant susp e cte d of b e ing the victim of child ab use . (Use d with
p e rmission from Camille Sab e lla, MD.) content of water and appears darker on a noncontrast CT; it may
PART 18
1180 CHAPTER 203
NEURO LO GY
have fresh bleeding or may calcify (chronic SH). 2 This is often of

the same color as brain parenchyma on noncontrast CT.
bleeding because of bleeding disorders or anticoagulation, meningi-

tis, and complications of neurologic procedures, including spinal
anesthesia.
RISK FACTO RS
Poor prognosis is seen in children with:4
DIAGNO SIS FIGURE 203-3 He morrhag ic infarct on CT scan of the b rain in a young
infant with he morrhag ic d ise ase of the ne wb orn. (Use d with p e rmission
The clinical features are often nonspeci c, making the diagnosis
dif cult in the absence of known trauma.
Figure 203-4
feeding, or new seizures. 2 bright white density that resembles the shape of the lens of the eye.
Figure 203-5
confusion. outlines cerebral sulci.
TYPICAL DISTRIBUTIO N dura.

SHs by de nition occur in the subdural space, most commonly seen
in the parietal region.
IMAGING
Acute SHs are seen easily on a noncontrast CT scan (Figure 203-1).
Subacute and chronic SHs can be similar in color to the brain paren-
Other causes of nonspeci c symptoms seen with SH can be differenti-

ated by neuroimaging and include the following:
blood cells, positive blood cultures, and cerebral spinal uid consis-
tent with meningitis.
Figure 203-3) or ischemic stroke or transient
-
genital heart malformations, hemolytic anemias, collagen vascular
Accident).
FIGURE 203-4 Ep id ural he matoma on MRI of the b rain. Note the typ i-
factors for cancer. cal le nticular b iconve x ap p e arance . (Use d with p e rmission from
Strang e GR, Ahre ns WR, Schafe rme ye r RW, Wie b e RA. Pe d iatric Eme r-
Other causes of intracranial bleeding can also be differentiated by g e ncy Me d icine , 3rd e d ition: http ://www.acce sse me rg e ncyme d icine .
neuroimaging and include the following: com. Fig ure 29-2, with p e rmission.)
PART 18
SUBDURAL HEMATO MA 1181
NEURO LO GY
PRO GNO SIS
22 percent. 3
range from learning dif culties to severe cognitive and physical

impairment. 4
and over half have a good outcome. 4
resolve without treatment within 4 weeks. 4
FO LLO W-UP
and primary care physician to ensure resolution of the SH and max-

FIGURE 203-5 A sub arachnoid he morrhag e ap p e aring as an are a of
hig h d e nsity (more white like b one rathe r than the g ray of b rain tissue ) imal return of function.
in the same infant as in Fig ure 203-3. (Use d with p e rmission from
PATIENT EDUCATIO N
which can cause several emergencies including an SH.

MANAGEMENT -
tion for child abuse and neglect in infants with an SH.
Most SHs are managed surgically, and there is little evidence about
conservative management (Figure 203-2). PATIENT RESO URCES
Subdural Hematoma www.nlm.nih.gov/
trauma and consider airway protection in patients with a score less medlineplus/ ency/ article/ 000713.htm.
than 12.
having an SH. http:// emedicine.medscape.com/ article/ 1137207.
www.mdcalc.com/
glasgow-coma-scale-score.
status or evidence of brain edema or midline shift to a hospital with

neurosurgeons. REFERENCES
-
ble focal neurologic signs. history of subdural haemorrhages in babies and relation to obstet-
2,4 SO R ric factors. Lancet.
infancy. Arch Dis Child.

PREVENTIO N
costs, incidence, and inhospital mortality rates of traumatic subdu-
J Neurosurg
activities and follow guidelines for return to play after a head 4. Jayawant S, Parr J: Oucome following subdural haemorrhages in
injury. infancy. Arch Dis Child.
PART 18
1182 CHAPTER 204
NEURO LO GY
204 CEREBRAL VASCULAR SYNO NYMS

ACCIDENT Stroke.
EPIDEMIO LO GY
1
PATIENT STO RY
are hemorrhagic. 1
A 16-year-old boy with a history of idiopathic dilated cardiomyopathy
and severe ventricular dysfunction was admitted to the hospital for
thrombosis.
vomiting, confusion, involuntary movements, and slurred speech. On
physical examination, he was found to be lethargic and to have dys-
metria with the nger-to-nose test, ataxia, and incoordination of have a previously identi ed risk factor for stroke. 3
rapid alternating movements. He was found to have decreased biven-
tricular systolic dysfunction and a large thrombus at the apex of the ETIO LO GY AND PATHO PHYSIO LO GY
left ventricle on cardiac echocardiogram, and a left cerebellar stroke
on CT scan of the brain (Figure 204-1). He was treated with antico-
agulation and supportive care, with improvement of his neurologic
causes.
symptoms. He eventually underwent a successful orthotopic heart ~
transplant.
patients.
~ Major causes include congenital heart disease, sickle cell disease,
infections, and prothrombotic states.
INTRO DUCTIO N ~ Moyamoya is rare in the US, but the most common cause in
Japan.
Cerebral vascular accidents are uncommon in children. Ischemic and ~
hemorrhagic strokes are often due to an underlying cause which adults.

should be identi ed and addressed. Acute treatment is largely sup-
portive. Prevention of recurrence is critical. -
ally as the result of a vascular abnormality or clotting disorder.
RISK FACTO RS
Ischemic Stroke
Figure 204-1).
years; Figure 204-2).
and anti-phospholipid antibodies).
contraceptive use.
Hemorrhagic Stroke
Figure 204-3).
FIGURE 204-1 Acute /sub acute le ft ce re b e llar infarct on b rain CT of a
16-ye ar-old with d ilate d card iomyop athy and se ve re ve ntricular d ys-
function. (Use d with p e rmission from Camille Sab e lla, MD.)
PART 18
CEREBRAL VASCULAR ACCIDENT 1183
NEURO LO GY
CLINICAL FEATURES
or stroke.
neurological function. In younger children, headaches, emesis, and

seizures with hemiparesis are less common.
TIA or stroke can occur in any area of the brain; common areas with
typical symptoms include the following:
~ Superior branch occlusion causes contralateral hemiparesis and

sensory de cit in face, hand, and arm, and an expressive aphasia
if the lesion is in the dominant hemisphere.
~ Inferior branch occlusion causes a homonymous hemianopia,
impairment of contralateral graphesthesia and stereognosis,
anosognosia and neglect of the contralateral side, and a receptive
aphasia if the lesion is in the dominant hemisphere.
FIGURE 204-2 Brain MRI showing re mote infarction in the d istrib ution
of the mid d le ce re b ral arte ry and volume loss at the rig ht frontop arie tal
corte x in a p atie nt with sickle ce ll d ise ase . (Use d with p e rmission from
strokes) occlusion causes contralateral hemiplegia, hemisensory
Ste fanie Thomas, MD.) de cit, and homonymous hemianopia; aphasia is also present with
dominant hemisphere involvement.
-
DIAGNO SIS pia affecting the contralateral visual eld.

and morbidity. (INCLUDE ANCILLARY TESTING)
These tests may be helpful in the context of an acute stroke, particu-
larly when the cause of the stroke is not immediately evident:
when suspected.
-
logic symptoms.
common prothrombotic factors may be considered.
IMAGING
-
-
invasively identi es the majority of vascular lesions.

FIGURE 204-3 Le ft mid d le ce re b ral and p oste rior ce re b ral arte ry
he morrhag ic infarct in a p atie nt with he mo rrhag ic d ise ase of the ne w- Other causes of acute neurologic dysfunction include the following:
b orn. This CT was p e rforme d afte r cranie ctomy for e vacuation of multi-
focal he morrhag e s and mass affe ct. (Use d with p e rmission from
Camille Sab e lla, MD.) however, may present with focal neurologic signs based on
PART 18
1184 CHAPTER 204
NEURO LO GY
-
entiate this from stroke. ~ Ischemic.
I Anticoagulation for children with substantial risk of recurrent
SO R
nausea; hemiparesis or aphasia may be part of the aura.
I -
-
dromes but is easily differentiated by a blood glucose measure-
embolism or severe hypercoagulable disorder. SO R
ment. I
SO R
and symptoms that occur over time and resolve; vision is often I Avoid oral contraceptives in adolescents with history of acute
ischemic stroke
~ If a severe coagulation factor de ciency is present, provide

appropriate factor replacement therapy.
MANAGEMENT ~
for surgical correction.

Acute Ischemic Stroke (AIS)
provide oxygen if hypoxic, correct systemic hypertension or PRO GNO SIS

hypotension, correct glucose levels, treat dehydration and anemia.
SO R
hemorrhage, time to recognition, and institution of appropriate
management.
necessary.
unfractionated heparin for up to 1 week while evaluating for under-

lying risk factors that would be mitigated by anticoagulation.
states.
FO LLO W-UP
Acute Hemorrhagic Stroke
-
vent epileptic seizures, medically manage increased intracranial evaluated immediately for treatment of reversible causes, and
pressure.
associated with these units.
- regular intervals based on appropriate strategies for secondary

lar abnormalities and clotting disorders. An underlying treatable prevention.
cause can be found in most cases.
Special Situations
PATIENT EDUCATIO N
~
disease at high risk for stroke. Children with cerebral blood ow

to identify underlying causes, the high risk of having a second stroke,
and the need for secondary prevention strategies to reduce this risk.
per year. 4
~

cent. 4 SO R
www.stroke.org/ site/
PageServer?pagename=PEDSTROKE.
PREVENTIO N
www.chasa.org/
wp-content/ uploads/ 2011/ 06/ chasa_pediatric_
and refer for exchange transfusion when indicated) and congenital stroke_fact_sheet_2012.pdf.
heart disease (refer for repair).
PART 18
CEREBRAL VASCULAR ACCIDENT 1185
NEURO LO GY
PRO VIDER RESO URCES group of the American Heart Association Stroke Council and the
- Stroke
http:// stroke.ahajour-
nals.org.proxy.kumc.edu:2048/ content/ 39/ 9/ 2644.
full.pdf+html. Investigation of risk factors in children with arterial ischemic
stroke. Ann Neurol
REFERENCES by transfusions in children with sickle cell anemia and abnormal

- N Engl J Med.
dren: ethnic and gender disparities. Neurology
Arch
Infants and Children: A Scienti c Statement from a special writing Dis Child.
PART 18
1186 CHAPTER 205
NEURO LO GY
205 TUBERO US SCLERO SIS

PATIENT STO RY
A 2-year-old girl was brought to her pediatrician for her well child
visit. On exam, she was noted to have several hypomelanotic lesions
over her trunk (Figures 205-1 to 205-3). Based on the presence of
these lesions, the pediatrician orders an MRI of the brain, which
revealed subependymal tubers, which also projected into the ventri-
cles. She was diagnosed with Tuberous sclerosis, and a renal ultra-
sound and cardiac echocardiogram were obtained, which did not
reveal any abnormalities. A multidisciplinary approach to her care FIGURE 205-2 Hyp ome lanotic, or “ash le af” le sion on the b ack of the
same child as in Fig ure 205-1. (Use d with p e rmission from Richard P.
was planned and included a pediatric neurologist, developmental Usatine , MD.)
pediatrician, and dermatologist.
EPIDEMIO LO GY
INTRO DUCTIO N
Tuberous sclerosis (also called Tuberous sclerosis complex-TSC) is an

inherited neurocutaneous and multisystemic disorder characterized
by hamartomas (sclerotic tubers), which most notably affect the skin, individuals. 3
brain, kidneys, heart and eyes. 1,2 TSC results in a wide spectrum of
clinical manifestations and neurologic sequelae. both parents appear to be unaffected, the recurrence risk is 1 in
22 after one affected offspring and 1 in 3 after two affected offspring.
SYNO NYMS of TSC.
Tuberose sclerosis, Tuberous Sclerosis-1, and Tuberous Sclerosis ETIO LO GY AND PATHO PHYSIO LO GY
Complex (TSC).
Only one of the genes needs to be affected for TSC to be present.
FIGURE 205-1 Hyp ome lanotic, or “ash le af” le sion on the ab d ome n
of a 2-ye ar-old g irl found to have tub e rous scle rosis. She p re se nte d
with ove r ve hyp ome lanotic le sions on e xam. This p romp te d the p hy-
sician to ord e r an MRI of the b rain. Tub e rs we re found to con rm the FIGURE 205-3 Hyp ome lanotic or “ash le af” le sion in axilla of the child
d iag nosis. (Use d with p e rmission from Richard P. Usatine , MD.) in Fig ure 205-1. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 18
TUBERO US SCLERO SIS 1187
NEURO LO GY
complete penetrance, but a variable expressivity range in terms of

the age of onset, severity of disease, and different signs and symp-
toms that result from a speci c genotype.
mosaicism, differences between TSC1 and TSC2 genes, a variety of

mutation types found in each gene, and the requirement for a sec-
ondary somatic mutation in the wild-type copy of the gene for the
development of many pathologic features of TSC.
mutation.
TSC1 is located on the long arm of chromosome 9 (9q34) and
These loci encode for hamartin and tuberin, respectively. Hamartin

and tuberin are thought to function together as a protein complex
FIGURE 205-5 Ang io b romas on the nose and face of a te e nag e r
or as adjacent steps within the same intracellular pathway, which with tub e rous scle rosis. The se le sions can b e e asily confuse d with acne
may explain why the phenotypic expression of either mutation in ad ole sce nts. (Use d with p e rmission from Emily Be cke r, MD.)
leads to almost identical disease. 2,4
individuals, these lesions often are dif cult to visualize without
not activated, leads to uncontrolled cell cycle progression and the
proliferation of hamartomas throughout the body. ~ Facial angio bromas (adenoma sebaceum) are comprised of vas-
cular and connective tissue elements and are found in approxi-
RISK FACTO RS appear during the preschool years in the malar area as small
pink to red dome-shaped papules in a “butter y distribution”
(Figures 205-4 to 205-6).
inheritance). ~
patients with TSC. They result from accumulation of collagen,

and are typically is found in the lumbosacral area. The lesion
DIAGNO SIS presents as an irregularly shaped, grayish-green, or light brown,
unevenly thickened plaque with a cobblestone or orange-peel
CLINICAL FEATURES appearance (Figure 205-7).
~
~ Hypomelanotic macules or “ash leaf” spots are found in more eshy lesions that are adjacent to or underneath the nails. These
usually appear later in life and are not typically apparent in the
the rst 2 years of life, and become more evident with age pediatric age-group (Figures 205-8 to 205-10).
(Figures 205-1 to 205-3). In newborn infants and in fair-skinned
FIGURE 205-4 Facial ang io b romas (ad e noma se b ace um) in a typ ical FIGURE 205-6 Ang io b romas on the nose and face of a te e nag e r
b utte r y d istrib ution in a child with tub e rous scle rosis. (Use d with p e r- with tub e rous scle rosis. This is also calle d ad e noma se b ace um. (Use d
mission from Elumalai Ap p achi, MD.) with p e rmission from Marisa Pong p rutthip an, MD)
PART 18
1188 CHAPTER 205
NEURO LO GY
FIGURE 205-9 Pe riung ual b roma (Koe ne n tumor) in a young ad ult

with tub e rous scle rosis. (Use d with p e rmission from Richard P. Usatine ,
MD.)
~ Seizures are the most common neurologic complication and are
FIGURE 205-7 Shag re e n p atch (collag e noma) is a slig htly e le vate d commonly present as infantile spasms, partial motor seizures,
skin-colore d conne ctive tissue p laq ue found in tub e rous scle rosis.
The se collag e nomas are on the b ack of a young p atie nt with tub e rous and generalized tonic clonic seizures. 3,4
scle rosis. (Use d with p e rmission from Richard P. Usatine , MD.) ~ Autism, attention de cit, hyperactivity, and sleep problems are
the most frequent behavioral disorders.
~ Intracranial abnormalities include tubers, subependymal nodules,
~ and subependymal giant cell astrocytomas (Figure 205-11).
TSC. Most patients have fewer than six lesions whereas patients ~ -
tive impairment and more dif culty with seizure control.
Neuro bromatosis). ~
of patients and may lead to obstructive hydrocephalus.

~ There is a wide spectrum of neurological manifestations.
~ About half of persons with TSC will have normal intellect. ~ Renal complications are the second most common cause of
~ Neurologic complications, when present, are the most common mortality.
causes of mortality and morbidity, and the most likely to affect ~ The most common renal lesion is an angiomyolipoma, which
the quality of life.
FIGURE 205-8 Pe riung ual b roma (Koe ne n tumor) in a p atie nt with FIGURE 205-10 Pe riung ual b roma d istorting the toe nail archite cture
tub e rous scle rosis. The se ap p e ar late r in life and are not typ ically se e n of a te e nag e r with tub e rous scle rosis. (Use d with p e rmission from
in child re n. (Use d with p e rmission from Richard P. Usatine , MD.) Marisa Pong p rutthip an, MD.)
PART 18
NEURO LO GY
FIGURE 205-12 Multip le re nal cysts found in b oth kid ne ys at autop sy

from a te e nag e r who succumb e d to the comp lications of tub e rous
scle rosis. (Use d with p e rmission from Elumalai Ap p achi, MD.)
~ Shagreen patch (connective tissue nevus; Figure 205-7).

~ Three or more hypomelanotic macules (Figures 205-1 to 205-3).
FIGURE 205-11 Bilate ral sub e p e nd ymal calci e d tub e rs on CT ~ Nontraumatic ungual or periungual bromas (Figures 205-8 to
scan of a te e nag e r with tub e rous scle rosis. (Use d with p e rmission from 205-10).
Elumalai Ap p achi, MD.)
~ Lymphangioleiomyomatosis (also known as lymphangiomyomatosis).
~ Renal angiomyolipoma.
is usually present in older children and adults. These are benign ~ Cardiac rhabdomyoma.
vascular, smooth muscle, and adipose tissue tumors. The lesions ~ Multiple retinal nodular hamartomas.
are often multiple and bilateral, and increase in size and number ~ Glioneuronal hamartomas (i.e., cortical tubers).
with age. ~ Subependymal nodules (Figure 205-11).
~ Renal cysts are the second most frequent renal manifestation ~ Subependymal giant cell astrocytoma.
(Figure 205-12). Cysts greater than 4 cm in diameter are more
pain, gross hematuria, or a tender mass.

~ Confetti skin lesions (multiple 1 to 2 mm hypomelanotic
macules).
~ Gingival bromas.
~ Cardiac rhabdomyomas are usually asymptomatic but can result ~ Multiple randomly-distributed pits in dental enamel.
in out ow obstruction, valvular dysfunction, arrhythmias ~ Hamartomatous rectal polyps.
~ Multiple renal cysts (Figure 205-12).
thromboembolism. ~ Nonrenal hamartomas.
~ The most common presentation of cardiac dysfunction is heart ~ Bone cysts.
failure soon after birth. The lesions often regress over the rst ~ Retinal achromic patch.
few years of life. ~ Cerebral white matter radial migration lines.
~
any individual depends upon the number of major and minor
asymptomatic, visual impairment as a result of a large macular ~ De nite
lesion do occur in some patients. with only renal angiomyolipoma and pulmonary lymphangioleio-
myomatosis) or one major and two minor features.
~ ~ Probable
in only approximately 1 percent of patients with TSC. This can ~ Suspected
manifest as spontaneous pneumothorax and progressive lung minor features but no major features.
disease seen mainly in adult females.
DIAGNO STIC CRITERIA
The diagnostic criteria for TSC are based upon speci c clinical and TSC2 genes is clinically available.
features. -
rming the diagnosis in any individual with probable or possible TSC
~ Facial angio bromas or forehead plaques (Figures 205-4 to 205-6). who does not meet the criteria for de nite TSC by clinical evaluation.
PART 18
1190 CHAPTER 205
NEURO LO GY
IMAGING
of TSC and can be treated with dermabrasion or laser surgery.
SO R
cell astrocytomas and is best detected on a CT scan (Figure 205-11).
tubers, areas of heteropia, and small subependymal nodules, espe- REFERRAL

cially when they not calci ed. -
tions with a dermatologist, neurologist, nephrologist, cardiologist,
are present. and ophthalmologist should be strongly considered for patients who
are diagnosed or suspected of having TSC.
the patients with TSC to identify abnormalities.

to use preimplantation genetic diagnosis. This involves single cell

impairment. Clinical evaluation will usually reveal the diagnosis analysis after biopsy of an embryo obtained through in vitro fertil-
based on the diagnostic criteria previously outlined. ization and subsequent implantation of embryos at low risk of
carrying the mutation.
for TSC.
obtained during pregnancy through either chorionic villus sampling
CMV infection. These infants will not have the cutaneous manifes- or amniocentesis is also available. 9
tations noted in children with TSC, and may have other manifesta-
tions of congenital infection. can be performed in families in which a speci c mutation in the
TSC1 or TSC2 gene has been identi ed in an affected family
In these cases, the common presence of neurologic manifestations member.
will point to the diagnosis of TSC.
within families and that establishing the diagnosis prenatally cannot
predict the severity or outcome.
MANAGEMENT
NO NPHARMACO LO GIC
the neonatal period because it provides a better assessment than
fetal echocardiography. An electrocardiogram should be performed
speci c organ(s) involved and the spectrum of the manifestations. to look for arrhythmias.
disorder, both parents should be evaluated. This evaluation should

-
developmental problems are evident. ~ A thorough examination of the skin (in normal light and a
paramount. ~ Ophthalmic examination.

~ Cranial CT or MRI.
MEDICATIO NS
~ Renal ultrasound.
recommendations depend on the speci c seizure types. providing appropriate follow-up for the parent, that is, screening
for renal disease, and in providing an appropriate risk estimate of
having a subsequent child with TSC.
spasms, and may help prevent more severe cases of cognitive
dysfunction. SO R
9
PRO GNO SIS
SURGICAL -
current infection, uncontrolled seizures, or other complications.
seizures, increased intracranial pressure, and giant cell astrocy-
tomas. SO R life and life expectancy of patients with TSC.
PART 18
NEURO LO GY
-
FO LLO W-UP plex. N Engl J Med.
-
sclerosis. Ann N Y Acad Sci.
tions of the condition and the organ systems involved is important.
-
-
nary tumors is recommended.
ment. J Am Acad Dermatol.
PATIENT RESO URCES

tuberous sclerosis. Ann N Y Acad Sci.
-
www.tsalliance.org.
logical study of renal pathology in tuberous sclerosis complex.
- BJU Int.
www.ninds.nih.gov/
disorders/ tuberous_sclerosis/ tuberous_sclerosis.htm.
J Child Neurol
http:// ghr
.nlm.nih.gov/ condition/ tuberous-sclerosis-complex.
infantile spasms. Eur J Paediatr Neurol.
Lancet.
www.rarediseases.org.
http:// emedicine.medscape.com/ article/ 1177711. needs in tuberous sclerosis complex with neurological manifesta-
Curr Med Res Opin
REFERENCES
-
Signs. Pediatrics
PART 18
1192 CHAPTER 206
NEURO LO GY
206 NEURO FIBRO MATO SIS SYNO NYMS

Café-au-lait spots and café-au-lait macules are synonyms.
A 12-year-old asymptomatic girl was noted to have six café-au-lait 1

macules (Figure 206-1A) and axillary freckles (Figure 206-1B)
during a general physical examination. No neuro bromas were noted
at the time. Although neither parent had neuro bromatosis, that cases are sporadic. 1
diagnosis was entertained. She was referred to an ophthalmologist
and monitored closely for scoliosis. In time, she began to develop
neuro bromas and was eventually diagnosed with sporadic neuro -
bromatosis type 1 (NF-1). ETIO LO GY AND PATHO PHYSIO LO GY
INTRO DUCTIO N result in loss of function of neuro bromin, which helps keep proto-
oncogene ras (which increases tumorigenesis) in an inactive form.
NF-1 is a common autosomal dominant disorder that predisposes to
tumor formation. Café-au-lait spots are often the rst clinical sign. -
Other clinical signs include neuro bromas, axillary or inguinal ity in neurocutaneous tissues, leading to tumorigenesis. 1
freckling, optic gliomas, Lisch nodules, and sphenoid bone dysplasia.
Treatment at present is early recognition and monitoring for
complications such as cognitive dysfunction, scoliosis or other RISK FACTO RS
orthopedic problems, tumor pressure on vital structures, or malig-
nant transformation. A rst-degree relative with NF-1.
A B
FIGURE 206-1 A. A 12-ye ar-o ld g irl p re se nting with ove r six café -au-lait macule s (0.5 cm or larg e r) and B. axillary fre ckling (Cro w
sig n). She d oe s not have any ne uro b romas visib le b ut d oe s me e t crite ria for ne uro b romatosis. (Use d with p e rmission from Emily
Scott, MD.)
PART 18
NEURO FIBRO MATO SIS 1193
NEURO LO GY
FIGURE 2 0 6-4 Ne uro b ro mato sis (NF-1) in a child with a p le xifo rm

FIGURE 206-2 Close -up of ne uro b romas on the ne ck and up p e r ne uro ma o n the so le o f the fo o t. This sub cutane o us mass is so ft and
che st. The se are soft and round . (Use d with p e rmission from Richard asymp tomatic. The child also has café -au-lait macule s and multip le ne u-
P. Usatine , MD.) ro b romas. (Use d with p e rmission from Fitzp atrick d e rmatolog y Atlas.)
CLINICAL FEATURES
DIAGNO SIS
History and p hysical
For a diagnosis of NF-1, patients need to have at least 2 of the following:2
age of 1 year.
Figures 206-2 and 206-3) or one or
more plexiform neuro bromas (Figures 206-4 and 206-5). Figures 206-1
and 206-9).
1.5 cm or larger after puberty (Figures 206-6 to 206-9).
disorder, attention de cit hyperactivity disorder, or mild cognitive
impairment.
Figures 206-2 to
Figure 206-10).
206-3).
bone cortex.
bones, scoliosis, or short stature (Figure 206-9).
FIGURE 206-5 Ple xiform ne uro b roma on the the nar e mine nce fe e ls
FIGURE 206-3 Larg e ne uro b roma on the b ack of his te e nag e like a b ag of worms in this p atie nt with ne uro b romatosis. This is a
p atie nt with ne uro b romatosis. (Use d with p e rmission from Richard P. b e nig n tumor of the p e rip he ral ne rve she ath and is most ofte n asymp -
Usatine , MD.) tomatic. (Use d with p e rmission from Richard P. Usatine , MD.)
PART 18
1194 CHAPTER 206
NEURO LO GY
FIGURE 206-6 Ne uro b romatosis in a 7-ye ar-old b oy with café -au-lait FIGURE 206-8 Ne uro b romatosis with visib le café -au-lait macule and
macules on the face . (Used with p ermission from Richard P. Usatine , MD.) small ne uro b romas o n the trunk. (Use d with p e rmission from Richard
P. Usatine , MD.)
(Figure 206-10). history of NF-2, meningioma, glioma, schwannoma, juvenile poste-

rior subcapsular lenticular opacities, or juvenile cortical cataracts.
IMAGING Tuberous Sclerosis).

-
tumor compression of vital structures is suspected. crine gland hyperactivity.
DIFFERENTIAL DIAGNO SIS stature, upper limb anomalies, genital changes, skeletal anomalies,
NF-1 is the predominant cause of café-au-lait spots, which can also be

seen in the following cases:
of cancer, telangiectatic erythema on the face, cheilitis, narrow

face, prominent nose, large ears, and long limbs.
-
lar ataxia, immunode ciency, impaired organ maturation, ocular
and cutaneous telangiectasia, and a predisposition to malignancy.
elephant man”) is now, in retrospect, thought by clinical experts
MANAGEMENT
-
festations.
SO R
FIGURE 206-7 Ne uro b romatosis with visib le café-au-lait macule in a SO R

b oy with leprosy in Africa. (Used with p ermission from Richard P. Usatine ,
MD.)
PART 18
NEURO FIBRO MATO SIS 1195
NEURO LO GY
A B
FIGURE 206-9 A. Neuro b romatosis in a te enag e g irl with se vere scoliosis and a visib le café-au-lait macule on the back. B. Axillary
fre ckling (Crow sig n) in the same te e n with ne uro b romatosis and scoliosis. (Use d with p e rmission from Richard P. Usatine , MD.)
off-label to patients disturbed by their hyperpigmented macules. 4,6

SO R
analogs (calcipotriene SO R
appearance of café-au-lait spots. 4,5 SO R One small study suggests structures (i.e., spinal cord impingement, and optic glioma) or
when characteristics such as rapid enlargement are worrisome for
ointment may lighten small- malignant transformation.
pigmented lesions in patients with NF-1. 6 SO R Although calci-
potriene is approved for use in psoriasis, it can be prescribed
PRO GNO SIS
prognosis.
peripheral nerve sheath tumor.
FO LLO W-UP
-
ing of blood pressure.
-
tion of optic gliomas and glaucoma. Neuro bromas and plexiform
neuromas can occur on the eyelids. Neuro bromas on the eyelids
FIGURE 206-10 Lisch nod ule s (me lanotic hamartomas of the iris) are usually are not a problem (Figure 206-10) but a plexiform neu-
cle ar ye llow-to-b rown, d ome -shap e d e le vations that p roje ct from the roma can present with ptosis and need surgical intervention.
surface of this b lue iris. The se hamartomas are the most common typ e
of ocular involve me nt in ne uro b romatosis typ e 1 and d o not affe ct
vision. (Use d with p e rmission from Paul Come au.) having other children.
PART 18
1196 CHAPTER 206
NEURO LO GY
PRO VIDER RESO URCE

presentations and anaesthetic implications. Br J Anaesth
86(4):555-564.
www.n nc.org.
PATIENT RESO URCES

cognitive de cits in children with neuro bromatosis type 1.
Neurology
-
rials, information about local support groups, ongoing clinical
www.n nc.org. disease: experimental and clinical studies. Eur J Dermatol
patient information at its Neuro bromatosis Information Page

www.ninds.nih.gov/ disorders/ NF/ NF.htm. in treatment of solar lentigo and café-au-lait macules with
Q-switched ruby laser. Aesthetic Plast Surg
-
REFERENCES mented lesions of neuro bromatosis 1 with intense pulsed-radio
1. Yohay K: Neuro bromatosis types 1 and 2. Neurologist
ointment. J Dermatol.
PART 18
STURGE-WEBER SYNDRO ME 1197
NEURO LO GY
207 STURGE-WEBER and choroidal hemangioma, and leptomeningeal angiomas. Seizures,

developmental delay and glaucoma comprise the major clinical fea-
SYNDRO ME tures. SWS is associated with mutations in the GNAQ gene.
Swathi Ap p achi, BS
Elumalai Ap p achi, MD, MRCP SYNO NYMS
Encephalotrigeminal angiomatosis and encephalofacial angiomatosis.

Port-wine stains are also called nevus ammeus.
PATIENT STO RY
A 3-year-old girl is referred to a pediatric neurologist because of a EPIDEMIO LO GY

history of developmental delay and focal seizures since birth that are
no longer being well controlled with two antiseizure medications. On
physical exam, the neurologist notes a large bilateral port-wine stain newborns and in equal frequency in both genders.
on the face (Figure 207-1). The neurologist suspects that the child
has Sturge-Weber syndrome and orders brain imaging and an oph-
thalmologic exam. The MRI reveals leptomeningeal angiomas and the ETIO LO GY AND PATHO PHYSIO LO GY
ophthalmologist diagnoses glaucoma. The diagnosis of Sturge-Weber
syndrome is con rmed and education is provided to the parents on
this condition. The child’s anti-epileptic medications are maximized con rmed by a whole-genome sequencing study that examined skin
and her glaucoma is treated by the ophthalmologist. and brain tissue samples.
INTRO DUCTIO N as a mediator between G-protein coupled receptors and down-

stream signaling molecules.
Sturge-Weber syndrome (SWS) is a sporadic congenital neurocutane- -
ous syndrome that is characterized by facial capillary malformation propriate maturation of capillaries, thus leading to capillary malfor-
known as a port-wine stain, ocular abnormalities including glaucoma mations. The port-wine stain is due to a dilation of capillaries and
A B
FIGURE 207-1 Port-wine stain on frontal (A) and rig ht late ral (B) vie ws in a young g irl with Sturg e -We b e r syn-
d rome . Althoug h b ilate ral involve me nt is not common, it is associate d with intracranial nd ing s such as le p tome n-
ing e al ang iomas. (Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
PART 18
1198 CHAPTER 207
NEURO LO GY
venous blood vessels in the dermis rather than a proliferation of the

capillaries.
DIAGNO SIS
CLINICAL FEATURES
ocular, and neurologic. The diagnosis is usually made based on the

presence of the facial capillary malformations and leptomeningeal
angiomas.
~ The most obvious sign of SWS is the facial capillary malforma-

tion, known as a port-wine stain, due to its color (Figures
207-1 to 207-3).
~ Note that a capillary malformation is not the same as a cutaneous
hemangioma even though these are often confused as the same
SWS, the port-wine stain is not a hemangioma.

~ It normally involves at least the distribution of the ophthalmic
branch of the trigeminal nerve, overlying the forehead and the
upper eyelid.
~ Although it usually does not cross the midline, those with bilateral
port-wine stains are more likely to have cerebral involvement.
FIGURE 207-2 Port-wine stain in a young infant with se izure s and
d e ve lop me ntal d e lay d ue to Sturg e -We b e r synd rome . (Use d with
p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
~ Leptomeningeal capillary-venous malformations, or angiomas
can occur in children with SWS, usually ipsilaterally to the
A B
FIGURE 207-3 Bilate ral p ort-wine stain on frontal (A) and late ral (B) vie ws in a young child with Sturg e -We b e r
synd rome . This is the same child as se e n in Fig ure 207-2 at an old e r ag e . (Use d with p e rmission fro m Cle ve land
PART 18
NEURO LO GY
FIGURE 207-4 Le p tome ning e al ang ioma on CT scan in a child with a

p ort-wine stain, se izure s, and d e ve lop me ntal d e lay. (Use d with p e rmis- FIGURE 207-5 Choriod al he mang ioma in a p atie nt with Sturg e -We b e r
sion from Cle ve land Clinic Child re n’s Hosp ital Photo File s.) synd rome . The arrows p oint to the sup e rior b ord e r of the he mang i-
oma. The p oste rior re tina, includ ing the fove a, is e le vate d . (Use d with
p e rmission from Lue d e r GT. Pe d iatric Practice O p hthalmolog y: Fig ure
32-19, and www.acce ssp e d iatrics.com.)
port-wine stain in the parietal or occipital areas (Figure 207-4).

Underlying brain parenchyma may be atrophic and calci ed.
~ Seizures are the usual presenting neurologic manifestation of this Figure 207-6). These repre-
sent calci cation of the cortex.
-
zures are typically focal motor seizures, but secondary general- (Figure 207-4).
ization can occur. Infantile spasms are less common but can also
occur. Seizures often present initially during a febrile episode.
They can be more severe in patients with bilateral leptomenin- DIFFERENTIAL DIAGNO SIS
geal angiomas.
~ Developmental delay is present in approximately half of these
patients. Degree of handicap is usually correlated with younger
age at onset of seizures. of neurological symptoms. Many children with facial port-wine
~ Recurrent headaches are also common in these patients. stains do not have SWS (Figures 207-7 and 207-8).
~ Stroke-like episodes can occur, with hemiparesis or visual eld
defects. with port-wine stains (Figure 207-9). Port-wine stains are usually
~ Glaucoma, the most common ocular manifestation of SWS,

-
ies, and is usually ipsilateral to the port-wine stain. It can occur
early in childhood and has an insidious onset. For this reason, any
-
tribution of the trigeminal nerve should be referred for a com-
plete ophthalmologic exam.
~
also usually ipsilateral to the port-wine stain (Figure 207-5). Over

time, these lesions can cause retinal pigment epithelium degenera-
tion, brous metaplasia, or cystic retinal degeneration, leading to
vision loss. The presence of a choroid hemangioma almost always
indicates presence of leptomeningeal hemangiomas.
IMAGING
brain MRI with gadolinium contrast. FIGURE 207-6 Intracranial calci cations on skull x-ray in a p atie nt with
Sturg e -We b e r synd rome . Note the tram track or railroad track p atte rn,
~
sig nifying atrop hic and calci e d b rain p are nchyma, which is characte ris-
or with onset of symptoms such as seizure or glaucoma. 4 tic of this synd rome . (Use d with p e rmission from Elumalai Ap p achi, MD.)
PART 18
1200 CHAPTER 207
NEURO LO GY
FIGURE 207-7 Port-wine stain in the V1 d istrib ution in an infant with- FIGURE 207-9 Larg e facial he mang ioma in an infant without PHACE
out Sturg e -We b e r synd rome . The child has had no se izure s and was synd rome . Note that this is a he mang ioma and not a p ort-wine stain.
d e ve lop ing normally. (Use d with p e rmission from Richard P. Usatine The he mang ioma is not at like a p ort-wine stain. This he mang ioma
MD.) re solve d with p rop anolol and time . (Use d with p e rmission from John
Browning , MD.)
atter than hemangiomas and will not resolve over time as many
hemangiomas do. Hemangiomas are benign vascular tumors that
Hemangiomas and Vascular Malformations). Large facial hemangio-
malformations, venous and lymphatic malformations, and limb

hypertrophy have Klippel-Trenaunay syndrome. 3
MANAGEMENT
seizures and ocular manifestations such as glaucoma.
NO NPHARMACO LO GIC
stopping seizures refractory to pharmacological treatment. 3
MEDICATIO NS
FIGURE 207-8 Port-wine stain on the face of a he althy young g irl. requires more than one anti-epileptic drug (AED). However, man-
She is d oing we ll in school, has ne ve r had a se izure and has always had
normal cog nitive d e ve lop me nt. (Use d with p e rmission from Richard P. agement is crucial as increased seizure activity is thought to lead to
Usatine MD.) neurocognitive deterioration. 3
PART 18
NEURO LO GY
~ Patients should be aggressively started on an AED to prevent sei- -

zure activity from occurring and have an AED prescribed as abor- omas can cause developmental delay and neurocognitive decline.
tive therapy. Thus careful control of seizure activity is necessary. However, cog-
~ nitive deterioration can still occur as the patient ages. 3
at their maximum doses, other routes of therapy, such as a keto-
genic diet or surgery, should be considered.
FO LLO W-UP
SURGERY
-
patients with SWS. Surgical treatments include cryocoagulation of gist and neurologist should be closely involved in care of the child
the ciliary body, goniotomy, or trabeculotomy. with SWS.
resection of the affected portion of the brain or hemispherectomy PATIENT RESO URCES
can achieve long-term seizure control. However, there is signi - www.sturge-weber.org.
cant morbidity associated with these procedures, especially hemi- www.ninds.nih.gov/
spherectomy (which is associated with hemiparesis and homony- disorders/ sturge_weber/ sturge_weber.htm.
mous hemianopsia), and these should be discussed with the family. 3
This is a PRO VIDER RESO URCES
cosmetic procedure that is usually not covered by health insurance.
www.rarediseases.org/ .
REFERRAL http:// emedicine.medscape.com/ article/ 1177523.
-
REFERENCES
of the child is necessary as onset of glaucoma can be insidious.
be consulted for neuroimaging recommendations and possible man-

syndrome and port-wine stains caused by somatic mutation in
agement of seizures, especially if leptomeningeal angiomas are seen
GNAQ. N Engl J Med
on imaging.
-
should be consulted for surgical planning and decision-making.
PREVENTIO N AND SCREENING Sturge-Weber Syndrome Workgroup. Updates and future

horizons on the understanding, diagnosis, and treatment of
Sturge-Weber syndrome brain involvement. Dev Med Child Neurol.
face, a careful ophthalmologic exam with close follow-up is highly

recommended. the neuroradiologic evaluation of neuro bromatosis, tuberous
sclerosis, and Sturge-Weber syndrome. Arch Dermatol
of glaucoma in children with Sturge-Weber syndrome. J Pediatr

PRO GNO SIS Ophthalmol Strabismus
trabeculotomy in early-onset glaucoma associated with the Sturge-

manifestations and leptomeningeal angiomas. Weber syndrome. J AAPOS
-
tive for a good prognosis.
PART 18
1202 CHAPTER 208
NEURO LO GY
208 DUCHENNE MUSCULAR exam. He initially presented at 3 years of age for evaluation of toe
walking and excessive falling, and was diagnosed with DMD. He
DYSTRO PHY started walking independently between 12 to 14 months of age. He
had always been slower than his peers and has dif culty keeping up
Ne il Frie d man, MBChB with them. At the time of diagnosis, the family reported increasing
dif culty going up steps which he can only do one step at a time.
He also had dif culty getting up from the oor, needing to push
on his knee or use furniture for assistance (Gower sign), which has
PATIENT STO RY continued and is pronounced at the current visit (Figure 208-1).
He also tends to be clumsy with excessive falling and
A 9-year-old boy with a history of Duchenne muscular dystrophy has an awkward appearing waddling gait, exacerbated by
(DMD) is being seen by his pediatrician for a routine maintenance running.
A B C
D E F
FIGURE 208-1 Gowe r sig n. In ord e r to stand up , the child g e ts into a p rone crawl p ositio n with hand s on the oor (A-D), e xte nd s and locks the
le g s in a wid e ne d stance (E-F), the n using e xte nd e d arms the y shift the ir we ig ht b ackward s and use the ir hand s on the ir kne e s and thig hs until the y
can achie ve an up rig ht p osition (G-H). (Use d with p e rmission from Ne il Frie d man, MD.) (continue d )
PART 18
DUCHENNE MUSCULAR DYSTRO PHY 1203
NEURO LO GY
G H
FIGURE 208-1 (Continue d )
INTRO DUCTIO N hypothesis).
mutation.
~ Absence of dystrophin results in the severe Duchenne muscular
proximal weakness manifesting as dif culty getting up from the dystrophy (DMD) phenotype.
oor, dif culty climbing stairs, a waddling gait, and excessive ~
tripping and falling. milder Becker muscular dystrophy (BMD) phenotype or a

dilated cardiomyopathy (DCM) in which the heart is primarily
affected with little or no skeletal muscle involvement (Table
and progressive respiratory failure due to weakness. 208-1).
DMD gene; dystrophin is the gene
product. medical literature.
but female carriers may manifest disease characteristics series of children with the disease that would later bear his name.
TABLE 208-1 Comp arison of Duche nne and Be cke r Muscular Dystrop hy
Duche nne Be cke r

Ag e o f p re se nt at io n 3–5 ye ars 5–10 ye ars, some time s ad ole sce nce
Lo ss o f amb ulat io n Be fore 13th b irthd ay Be yond 16th b irthd ay
De at h Early 20’s—from card iop ulmonary failure Variab le —long -te rm survival p ossib le
CK Massive ly e le vate d Massive ly e le vate d
> 10-100 × normal > 10–100 × normal
Card io myo p at hy Late —e nd stag e Early, d isp rop ortionate to muscle we akne ss
May b e p re se nting fe ature
Dyst ro p hin Ab se nt (< 5%) Re d uce d in q uantity or q uality (> 10%)
Ge ne d e le t io n Larg e De le tions: ab out 2/3 of case s Larg e De le tions: ab out 2/3 of case s
Small d e le tions, p oint mutations and Small d e le tions, p oint mutations and
d up lications: ab out 1/3 of case s d up lications: ab out 1/3 of case s
PART 18
1204 CHAPTER 208
NEURO LO GY
of protein; whereas BMD results from an in-frame deletion or

muscular dystrophies based on clinical and inheritance factors. duplication in the DMD gene resulting in the expression of an
DMD altered size, but partially functional dystrophin protein. 2
“reverse genetics”). ~
mutations or rarely duplications.

SYNO NYMS De novo mutations occur in approximately 1/ 3 of cases, while 2/ 3
of cases are inherited from the mother.
DMD
EPIDEMIO LO GY1
major structural role in muscle as it links the internal actin cyto-
skeleton to the dystrophin-associated glycoproteins (DAG) in the
sarcolemmal membrane (Figure 208-2). 3
in muscle injury, in ammatory changes and ultimately degeneration

of the muscle bers with resultant replacement of muscle bers by
in childhood. connective tissue and fatty in ltration, which is irreversible. 4
ETIO LO GY AND PATHO PHYSIO LO GY RISK FACTO RS
duplication in the DMD gene leading to a complete absence ~
FIGURE 208-2 Dystrop hin-associate d g lycop rote in comp le x. (Re p rinte d b y p e rmission from Macmillan Pub lishe rs Ltd :
Mole cular The rap y (Mol The r.2012 Fe b ;20(2):462-7), Cop yrig ht 2012.)
PART 18
NEURO LO GY
Figure 208-1
DMD, this is suggestive of proximal girdle muscle weakness.
and slower, more variable progression of symptoms.
DISTRIBUTIO N
to involve proximal shoulder girdle muscles, neck exor and

extensor muscles, and distal upper and lower extremity muscles.
is not discriminatory for DMD versus BMD or from other forms of

neuromuscular disease.
DMD versus BMD or from other forms of muscular dystrophy.
~
FIGURE 208-3 Calf hyp e rtrop hy in p atie nt with Duche nne muscular
d ystrop hy. (Use d with p e rmission from Ne il Frie d man, MBChB.) commonly deleted, which will pick up about 2/ 3 of cases but
misses small deletions, point mutations and duplications;
~ Mother is found to be a carrier in approximately 2/ 3 of cases;
remaining cases due to spontaneous mutations.
array comparative genomic hybridization (array-CGH).
~
DIAGNO SIS
need for muscle biopsy, which shows dystrophic features including
variation in muscle ber size, increased internal nuclei, muscle
CLINICAL FEATURES
replacement by fat and connective tissue, and whirling or splitting
- of muscle bers.
vic girdle muscles and later shoulder girdle muscles; with disease ~ -
progression, neck muscles and distal muscles also become trophin protein will be absent in DMD (rare revertent bers
involved. may be seen) and show patchy and incomplete staining in BMD
Figure 208-3). (Figure 208-4).
FIGURE 208-4 Duche nne muscular d ystrop hy. (Le ft) He matoxylin and e osin staine d se ction d e monstrating d ystrop hic p atte rn of injury. The re is a
marke d variation in b e r size and e nd omysial b rosis and fat. Many larg e b e rs are hyalinize d consiste nt with e arly ne crosis. So me have ce ntrally
locate d myocyte nucle i. Some small b e rs are slig htly b asop hilic and have p lump nucle i consiste nt with b e r re g e ne ration. (Ce nte r) Immunop e roxi-
d ase stain with antib od y to d ystrop hin. The re is no e vid e nce of d ystrop hin e xp re ssion. (Rig ht) Positive control se ction d e monstrating the no rmal
p atte rn of d ystrop hin immunore activity. Scale b ar = 100 µm. (Use d with p e rmission from Susan M. Staug aitis, MD, PhD.)
PART 18
1206 CHAPTER 208
NEURO LO GY
~ present, including individualized educational plans as needed; autism

has also been reported in association with DMD in some instances
and should be screened for in the appropriate clinical setting.
~
IMAGING I
prevent contractures.
replacement of muscle and brosis I
MEDICATIO NS
~ SO R
I
available that can slow the progression of the muscle weakness

but cannot cure the disease.
and involvement of joint contractures can help to differentiate this I Appears bene cial in reducing the risk of scoliosis, and may
group of disorders. help to stabilize pulmonary and cardiac function.
I
(anterior horn cell involvement), pattern of muscle involvement, corticosteroid therapy.

and early age of onset differentiate this from DMD. I
symptoms, presence of muscle pain or discomfort, and presence of

heliotrope rash, capillary telangiectasias of nail folds or Gottron
that shows some bene t (albeit not to the maximum extent
Dermatomyositis).
MANAGEMENT ~
mutation suppression.
NO NPHARMACO LO GIC ~
~ SO R REFERRAL
~
~ pulmonology, orthopedic surgery, endocrinology, medical genet-

~ ics, physical therapy, occupational therapy, nutrition, social
early morning headache, fatigue, nausea is effectively treated worker, and/ or case manager.
failure and/ or myocardial brosis with anti-failure medications PREVENTIO N AND SCREENING
can provide symptomatic relief and prolong life. SO R
~
repair of scoliosis to preserve lung function and facilitate sitting

posture and care. SO R
~ -
carriers is possible, if the speci c gene mutation is known.
tion and/ or use of corticosteroid therapy.
~ Measurement of serum concentrations of calcium and phosphorus,
and activity of alkaline phosphatase. kinase screening of the newborn blood screen to facilitate the
~ diagnosis of DMC.
~ Magnesium and parathyroid hormone levels may be considered.
Urine (calcium, sodium, or creatinine). PRO GNO SIS
~
I At baseline (age ≥3 years) or at start of corticosteroid therapy.

I
−2.
~ - aggressive management and appropriate care.
tion with DMD and should be appropriately addressed when
PART 18
NEURO LO GY
-
muscle weakness and may occur early; may be amenable to heart
transplantation. with type of deletion. Am J Hum Genet
-
FO LLO W-UP esis. Curr Opin Genet Dev.
- Pediatr Neurol
low up with multi-disciplinary team. -
ment of Duchenne muscular dystro
PATIENT RESO URCES pharmacological and psychosocial management. Lancet Neurol.
www.mda.org.
-
www.muscular-dystrophy.org.
of multidisciplinary care. Lancet Neurol.
www.parentprojectmd.org.
individuals affected by Duchenne or Becker muscular dystrophy.
PRO VIDER RESO URCES Pediatrics.
www.mda.org.
www.enmc.org.
Neurology
REFERENCES -
roid therapy in Duchenne muscular dystrophy. Cochrane Database
diseases—a world survey. Neuromuscul Disord. Syst Rev
PART 19
HEMATO LO GY-
O NCO LO GY
St re ng t h o f
(SO R) De nit io n

PART 19
1210 CHAPTER 209
HEMATO LO GY-O NCO LO GY
209 IRO N DEFICIENCY EPIDEMIO LO GY

ANEMIA
Marg are t C. Thomp son, MD, PhD infants.
until 4 to 6 months of age. Children between 9 and 18 months of

age are at highest risk for developing iron de ciency due to rapid
PATIENT STO RY growth combined with insuf cient intake.
A 24-month-old well appearing girl who is at the 50th percentile for 2 years and 9 percent of adolescent girls. 2
height and 95th percentile for weight is being evaluated by her pedia-
-
trician. Her vital signs reveal a heart rate of 150 per minute, blood
tion of more than 24 ounces of day of milk per day.
pressure 85/ 50 mm Hg, and respiratory rate of 15 per minute. She is
noted to be an active toddler sucking on a bottle and upon question- -
ing the mother reveals that the girl drinks 38 ounces of whole milk a sive milk intake. The iron in milk is poorly absorbed. Further, the
day. She is not jaundiced or icteric but the pediatrician notes that she child may forego intake of other calorie sources because he or she
has conjunctival pallor (Figure 209-1). No hepatosplenomegaly is is full from the milk. In addition, the child may develop mild
appreciated. Because of the conjunctival pallor and the dietary his- blood loss from the gastrointestinal tract associated with the
tory, the pediatrician obtains a complete blood count, which shows a
white blood cell count of 5100/ mm3, hemoglobin 6.1 g/ dL, and
platelet count of 499,000/ mm3. The lab reports microcytosis, hypo- because of lower iron stores at birth and greater requirements due
chromia, mild anisocytosis, and polychromasia. There is no basophilic to faster growth rate.
stippling. A diagnosis of iron de ciency anemia is made and the girl is
treated with oral ferrous sulfate. The pediatrician suggests that the
amount of milk intake should be limited to 20 ounces per day. One
month later, her hemoglobin increased to 8 g/ dl and she is continued
on iron supplementation for 3 months after her hemoglobin is normal
for age.
the hemoglobin of circulating red blood cells.
INTRO DUCTIO N -
lular protein found in all cells but primarily in the bone mar-
Iron de ciency is the most common cause of anemia in the United -
State and worldwide. 1 Although iron de ciency has decreased with mary physiologic source of reserve iron in the body. A small
the use of iron supplements and with iron forti cation of foods, espe- amount of iron (0.1%) is found circulating and bound to
cially infant formula, it remains a common problem. transferrin.
iron is ef ciently scavenged by macrophages and reused for

production of new red cells. Only a small amount of iron is lost
each day and is usually replaced by dietary absorption.
-
ment), iron stores decrease and iron de ciency anemia may occur.
This may occur in the following settings:
~ Blood loss.
peptic ulcers, varices, or hookworm infection.

I Uterine blood loss with menses.
I Urinary loss.
~ Inadequate dietary intake.
~ Impaired absorption.
I Celiac disease.
I Crohn disease.
I After surgery involving the duodenum.
I
FIGURE 209-1 Conjunctival p allor in a tod d le r with se ve re ane mia d ue
I
to iron d e cie ncy. (Use d with p e rmission from Marg are t C Thomp son,
MD PhD.) I Consumption of foods such as calcium, phytate, and tannins.
PART 19
IRO N DEFICIENCY ANEMIA 1211
FIGURE 209-2 Conjunctival p allor in an African child with iron d e - FIGURE 209-3 Koilonychia (sp oo n-shap e d nails) in the same African
cie ncy ane mia. This child live s in e xtre me p ove rty in rural Africa with child with iron d e cie ncy ane mia as in Fig ure 209-2. Child re n in he r
limite d acce ss to iron in he r d ie t. (Use d with p e rmission from Richard P. villag e may only have one to 2 me als p e r d ay and are lucky if the y
Usatine , MD.) re ce ive me at once a ye ar in the ir d ie t. (Use d with p e rmission from Rich-
ard P. Usatine , MD.)
RISK FACTO RS
and the liver. A low serum ferritin is the most speci c laboratory
test for iron de ciency anemia. Ferritin, however, is an acute phase
and poor maternal iron status. 3,4 reactant and may be increased in the settings of infection or chronic
in ammation. As a result, its sensitivity is decreased, and a normal
the age of one year). ferritin does not completely rule out iron de ciency anemia.
binding capacity (TIBC) is increased.

non-food substances).
is another nonspeci c marker of the iron status and is elevated in
iron de ciency, and can be used to help distinguish iron de ciency
DIAGNO SIS from anemia of chronic in ammation. 5
CLINICAL FEATURES occurs. In this state, a very mild decrease in hemoglobin may be
observed without a decrease in MCV. This decrease in hemoglobin
anemia and depend on severity of the anemia as well as the rapidity
of onset.
Figures 209-1 and 209-2), and blue sclerae.

Figure 209-3) and atro-
phy of the papillae of the tongue are rare ndings in children.
red blood cells on peripheral smear (Figure 209-4). This is

re ected by a low mean corpuscular volume (MCV) and low mean
corpuscular hemoglobin (MCH).
FIGURE 209-4 Microcytic, hyp ochromic re d b lood ce lls, which are

characte ristic of iron d e cie ncy ane mia, on p e rip he ral sme ar. (Use d
with p e rmission from Lichtman MA, Shafe r MS, Fe lg ar RE, Wang N.
degree of anemia. Lichtman’s Atlas o f He matolog y. http ://www.acce ssme d icine .com.)
PART 19
1212 CHAPTER 209
TABLE 209-1 Lab oratory Diffe re ntiatio n of the Cause s of Microcytic Ane mia
Thalasse mia (includ ing

St ud y Iro n De cie ncy t halasse mia t rait ) Chro nic In ammat io n
Fe rritin Low Normal Low to Ele vate d
Se rum Iron Low Normal to Incre ase d Low
Total iron b ind ing cap acity Hig h Normal Low
(TIBC)
Transfe rrin-re ce p tor Incre ase d Normal to Incre ase d Normal
Me an corp uscular volume Low Low and may b e out or p rop or-
(MCV) tion to d e g re e of ane mia
Re d b lood ce ll count Low Low to Hig h (hig h if ad e q uate Low
comp e nsation occurs)
- MEDICATIO NS
ability, true iron de ciency anemia occurs, with concomitant
abnormalities in the MCV and hemoglobin.
generally seen within 3 or 4 days.
cause of iron de ciency is not readily available based on history and -
rect the anemia.
comprehensive metabolic pro le may show signs of liver or renal
-
disease. If gastrointestinal blood loss is a concern, stool heme stud-
apy. For all forms, the dose is 3 to 6 mg/ kg of elemental iron
ies may be added to the workup.
divided into 3 or 4 doses daily. This should be continued for at least
DIFFERENTIAL DIAGNO SIS should be taken with vitamin C to increase absorption. Some
-
in ammation) also cause a microcytic anemia. These can be distin- min C juice, to increase absorption. 6 SO R
guished from iron de ciency based on family and dietary history,
current medical condition of the patient, and laboratory studies constipation are unusual in children. Temporary staining of the
(Table 209-1). teeth can occur but is temporary and can be avoided by rinsing the
mouth after the medication is given.
impaired absorption, when there are concerns of adherence, and

when rapid replacement therapy is required. Three commonly
of transferrin, copper de ciency, and lymphoid hamartoma syn- used parenteral forms of iron are:
drome (Castleman disease). ~ may be given intravenously and is also the only form
of iron that may be given intramuscularly. The bene t of iron
MANAGEMENT patient may be able to receive a full replacement dose in a single
NO NPHARMACO LO GIC -
with the Z-track method of administration. It is associated with

- pain, staining of the skin and inconsistent absorption of the iron.
equate dietary intake of iron.
-
ated iron de ciency anemia.
- result, full replacement frequently requires several doses given
use in hemodialysis patients is 0.12 mL/ kg or 1.5 mg/ kg of ele-

(or equal) bone marrow production after appropriate iron therapy.
PART 19
IRO N DEFICIENCY ANEMIA 1213
PATIENT EDUCATIO N
but based on use in hemodialysis patients is 0.05 mg/ kg, with a
caregivers regarding the appropriate modalities of nutrition that

REFERRAL will avoid iron de ciency in the rst year of life.
be appropriate. intake in the toddler years.
needed to identify potential sources of blood loss. PATIENT RESO URCES

http:// patiented.aap.org/ content.aspx?aid=6578.
PREVENTIO N AND SCREENING http:// emedicine.medscape.com/ article/ 202333-
overview.
- www.healthychildren.org/ English/ News/ pages/
rics8 has made the following recommendations for the prevention AAP-Offers-Guidance-to-Boost-Iron-Levels-in-
of iron de ciency anemia in term infants: Children.aspx?nfstatus=401&nftoken.
~ Breast milk should be given for at least 6 months, if possible.
Iron supplementation (1 mg/ kg/ day) should be provided for PRO VIDER RESO URCES
http:// pediatrics.aappublications.org/ content/ 108/
and continuing until appropriate iron containing complementary 3/ e56.full.
foods have been introduced.
~
infants who are weaned from breast milk before 12 months of age. REFERENCES
~ An iron-supplemented formula for the rst year of life should be
provided for infants who are not breast-fed.
1. Cogswell et. al. Assessment of iron de ciency in US preschool
children and nonpregnant females of childbearing age: National
~ Iron enriched cereals and other foods rich in iron should be
introduced gradually to infants starting at 4 to 6 months of age.
American Journal of Clinical Nutrition. Am J Clin Nutr.
~ All preterm infants who are fed human milk should receive an iron
supplement of 2 mg/ kg per day by one month of age and contin-
.
ued until the infant is weaned to iron forti ed formula or begins 2. Iron de ciency in the United States, 1999-2000. MMWR Morb
eating complementary foods that supply the 2 mg/ kg of iron. Mortal Wkly Rep.
concentration and assessment of risk factors for iron de ciency, iron de ciency anemia by dietary history in a high-risk popula-
should be performed at 12 months of age. tion. Pediatrics.
in toddlers should be avoided. early childhood in the United States: risk factors and racial/ ethnic
disparities. Pediatrics.
PRO GNO SIS
and its ratio to serum ferritin in the diagnosis of iron de ciency.
Blood.
and development in infants, poor school performance in older Pediatr Res

children, and decreased physical endurance. 9,10
American Journal of Hematology
FO LLO W-UP
and prevention of iron de ciency and iron de ciency anemia in
Pediatrics.
weeks of treatment to assess response. 126:1040-1050.
diagnostic of iron de ciency. underestimated and undertreated problem. Paediatr Drugs.
retested every 2 to 3 months until the hemoglobin is normal for age. -

ioral and developmental outcome more than 10 years after treat-
continued for 3 more months to replenish iron stores. ment for iron de ciency in infancy. Pediatrics.
PART 19
1214 CHAPTER 210
210 IMMUNE
THRO MBO CYTO PENIA
PURPURA
Marg are t C. Thomp son, MD, PhD
PATIENT STO RY
A 22-month-old boy is brought to his pediatrician by his parents

because he has developed several dark purple bruises on his back and
spine (Figure 210-1). He has additional bruises over both legs (Fig-
ure 210-2) along with smaller bruises over his neck and cheeks. He
developed these over the past 2 to 3 days, and his mother reports that
3 weeks prior to this presentation, he had an illness characterized by
vomiting, nausea, and diarrhea. The pediatrician suspects immune
thrombocytopenic purpura (ITP) and orders a CBC, which shows a
normal white blood cell count, differential count, and hemoglobin,
but a platelet count of 7,000 microL. His liver function studies, pro-
thrombin time (PT), and partial thromboplastin time (PTT) are all
normal. A diagnosis of ITP is made and the child is admitted to the
hospital, where his activity is restricted and he is treated with intrave-
nous immunoglobulin. His platelet count increases rapidly over 3
days and he is discharged home with close follow-up. FIGURE 210-1 Purp uric and e cchymotic le sion ove r the b ack, and
p e te chial le sions on the face of a child with immune thromb ocytop e nic
p urp ura. (Use d with p e rmission from Marg are t C Thomp son, MD, PhD.)
A B
FIGURE 210-2 A. Larg e p urp uric le sions on the le g s of the child in Fig ure 210-1. B. Close -up of an e cchymotic le sion o n the
same child . (Use d with p e rmission from Marg are t C Thomp son, MD, PhD.)
PART 19
IMMUNE THRO MBO CYTO PENIA PURPURA 1215
uncommon, the incidence of clinically signi cant thrombocytope-

INTRO DUCTIO N nia (< 50,000 microL) is between 1:30,000 and 1:40,000 vaccina-
tions. The onset is within 6 weeks of vaccination and the majority
Immune thrombocytopenia purpura (ITP), formerly called idiopathic of cases resolve within 1 month and in 93 percent of the children,
thrombocytopenic purpura, is an acquired disorder in which there is the thrombocytopenia resolves within 6 months. 6,7
increased destruction of platelets causing thrombocytopenia (platelet
count < 100,000 microL). ITP may be divided into acute and chronic
a history of non-vaccine associated ITP but revaccination may be
forms. Acute ITP is de ned as having duration less than 6 months
associated with relapse in children with vaccination associated dis-
while chronic ITP is de ned as lasting more than 6 months.
ease.
SYNO NYMS
Idiopathic Thrombocytopenic Purpura. DIAGNO SIS
The diagnosis is suggested by the nding of isolated thrombocytope-

EPIDEMIO LO GY nia in an otherwise healthy child. A history of a recent viral illness,
especially in children under the age of 10 years, is common.
100,000 per year. 1–3 CLINICAL FEATURES
an otherwise healthy child is the most common presentation.

10 years with a peak occurring between 2 and 5 years of age. 2
present.
2
purpura and ecchymoses (Figures 210-1 to 210-4).
genitourinary, or vaginal tract may be present.

weeks of a recent viral illness. 4
for longer than 6 months from the initial presentation. This occurs
in 10 to 20 percent of children with ITP.
than in young children. It affects females more than males and may
be associated with underlying autoimmune disorders such as
collagen-vascular diseases.
membranes. 5
-
body coated platelets.
ITP with respect to pathophysiologic mechanisms. It is believed

that acute ITP occurs when antibodies produced in response to a
viral or bacterial infection cross-react with platelet antigens. On
the other hand, chronic ITP may be the result of an underlying
defect in immune regulation. There is also evidence of decreased
thrombopoietin level in chronic ITP patients and megakaryocytes
from patients with chronic ITP may demonstrate decreased growth
in vitro.
FIGURE 210-3 Nume rous p e te chial le sions on the lowe r e xtre mitie s
of a young child with immune thromb ocytop e nic p urp ura. (Use d with
Although mild thrombocytopenia after such vaccination is not p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
PART 19
1216 CHAPTER 210
leukemia.
~
~ Liver failure that results in decreased thrombopoietin

synthesis.
~ Genetic disorders that cause impaired thrombopoiesis—
amegakaryocytic thrombocytopenia, and Wiskott-Aldrich

syndrome.
FIGURE 210-4 Pe te chial and p urp uric le sions in a child with immune ~
thromb ocytop e nic p urp ura following chicke np ox infe ction. The p late - decreased production of at least one other cell line and this helps
le t count d rop p e d to 10,000 and the child was also b le e d ing from he r
g ums. (Use d with p e rmission from Richard P. Usatine , MD.) to differentiate these disorders from ITP.
~ Neonatal alloimmune thrombocytopenia (NAIT)—Occurs in

neonates.
- ~ Drug induced (e.g., anti-epileptic agents).
topenia. ~ Platelet consumption such as Hemolytic uremic syndrome
-
-
ally appears well. Lymphadenopathy, hepatomegaly and spleno-
syndrome, thrombosis—These entities result in more systemic
megaly are not present, although the spleen tip may be palpated in
manifestations than seen with ITP.
a minority of cases. ~
~ Platelet sequestration associated with hypersplenism as in sickle

3 percent of patients. These are usually associated with platelet cell, chronic liver disease, and type 2B and platelet-type von
Willebrand disease.
occurs in 0.1 to 1.0 percent of patients.

TREATMENT AND MANAGEMENT
LABO RATO RY FEATURES
-
nosis but counts of less than 20,000 microL are frequently present
at the time of clinical presentation.
diagnosis, platelet counts usually improve within 6 weeks.
there is signi cant hemorrhage.
for all children with ITP.
hypogranulation and morphologically normal red and white blood
cells.
- risk of hemorrhage is decreased while waiting for spontaneous
eage hematopoiesis with normal or increased megakaryocytes. remission, it is unclear whether intervention actually
prevents clinically signi cant bleeding, including intracranial
is poor and is not required for diagnosis. hemorrhage.
- -
ther a sensitive nor speci c nding. tion in the management of ITP. Thus, management is highly physi-
cian dependent.
observe non-bleeding patients with close follow-up.

counts less than 20,000 microL or 10,000 microL.
increased destruction. any child with ITP and either severe bleeding or platelet count of
less than 10,000 microL. 9
PART 19
IMMUNE THRO MBO CYTO PENIA PURPURA 1217
MEDICATIO NS
mucous membrane bleeding, petechiae and bruising at the time of
regardless of treatment, there is some evidence that the duration of diagnosis, only 2.9 percent of patients will have severe hemorrhage.
symptomatic thrombocytopenia is shortened by pharmacologic
therapy, such as corticosteroids, intravenous immune globulin and the incidence is very low (0.1 to 1%) with the greatest risk felt
10–16 SO R
to be in patients with platelet counts less than 10,000 microL.
-
ments are commonly used:
~ Corticosteroids—Oral prednisone therapy can be administered FO LLO W-UP
and weaned over several weeks as the platelet count allows.
Because of the risk of pretreating a patient with a missed diagno-
sis of acute leukemia, many pediatric hematologists will not use of ITP.
corticosteroids as a rst line treatment or will perform a bone -
marrow evaluation prior to initiating steroids. However, current taneous resolution, response to therapy, and risk of severe bleeding.
and smear evaluation are not consistent with ITP or there are any PATIENT EDUCATIO N
ndings suggestive of an alternative diagnosis. SO R
~ -
ment particularly in the setting of severe acute bleeding. The should be discussed at length with the family.
response is usually within 24 hours with a continued rise over the
new few days. The response may be transient lasting only a few depend on the platelet count and risk of bleeding.
weeks or may be suf cient as a one-time treatment. Adverse
effects include headache, nausea, and aseptic meningitis, which
PATIENT RESO URCES
may mimic acute intracranial hemorrhage. SO R
~ Winrho or Anti D antibody—Use of this treatment is limited to www.nlm.nih.gov/ medlineplus/ ency/ article/ 000535.
htm.
of Winrho causes a hemolytic anemia competitively sparing some www.nhlbi.nih.gov/ health/ health-topics/ topics/
platelets. As a result, a patient receiving Winrho usually sees a itp/ .
drop in hemoglobin. While this is usually mild, it can be severe. www.itpfoundation.org
Winrho should not be used in patients with evidence of hemo-
http:// pdsa.org/ about-itp/ in-children.html.
~ Platelet transfusion is used only in the case of acute signi cant PRO VIDER RESO URCES
bleeding. The transfused platelets are quickly destroyed with the http:// emedicine.medscape.com/ article/ 202158.
SURGERY
REFERENCES
treatments, whose thrombocytopenia lasts over a year, and whose -
baseline platelet count is at a level where there is signi cant bleed- penic purpura.CurrOpinHematol. 2007;14: 515-519. http://
Haemophi- -
lus in uenzae type b, Streptococcus pneumoniae, and Neisseria meningiti- topenic purpura in childhood in Norway: a prospective, popula-
dis, should be completed prior to splenectomy. tion-based registration. PediatrHematolOncol. 2000;17(7):551-
//
REFERRAL
analyses of administrative data. J ThrombHaemost.
management of ITP and in determining the need for admission, //
treatment, and follow-up.
-
parative study of 2540 infants and children with newly diagnosed
PRO GNO SIS idiopathic thrombocytopenic purpura (ITP) from the Interconti-
J Pediatr. 2003;143:605.
-
paenic purpura. Br J Haematol. 2006;133:364.
PART 19
1218 CHAPTER 210
6. , , , et al. The risk of immune

thrombocytopenicpurpura after vaccination in children and
adolescents. Pediatrics Pediatric Blood Cancer.
after measles-mumps-rubella vaccination: a systematic review of the with newly diagnosed idiopathic thrombocytopenic purpura. A
literature and guidance for management. J Pediatr. 2010;156(4):623- randomized clinical trial. Am J Pediatr Hematol Oncol.
13. Imbach P, Wagner HP, Berchtold W, et al. Intravenous immuno-
- globulin versus oral corticosteroids in acute immune thrombocy-
mune thrombocytopenia in children and adults: a comparative topenic purpura in childhood. Lancet
prospective observational registry of the Intercontinental Coop-
Haematologica. childhood acute immune thrombocytopenic purpura with anti-D
immune globulin or pooled immune globulin. J Pediatr.
1999;134:21.
practice guideline for immune thrombocytopenia. Blood.

2011;117:4190-4207. 272 patients. Blood
16. , . Approach to the investigation and man-
report on the investigation and management of primary immune agement of immune thrombocytopenicpurpura in children.
thrombocytopenia. Blood. Semin Hematol. 2000;37(3):299-314.
PART 19
SICKLE CELL DISEASE 1219
211 SICKLE CELL DISEASE condition in which affected individuals are homozygous for the sickle
mutated β chain gene. 1
Arunkumar Mod i, MD, MPH
SYNO NYMS
-
PATIENT STO RY ease (SCD-SS).
S β -thalassemia
A 4-year-old boy with known sickle cell disease is brought to the (SCD-S-β Thalassemia) are types of sickle cell disease with differ-
emergency department with worsening pain in his thighs, lower back, ent mutations than SCD-SS.
abdomen, and chest. He developed pain in both thighs 2 days ago,
and was treated with ibuprofen without improvement. His chest pain
began today and he refused to walk or eat. In the emergency depart- EPIDEMIO LO GY
ment, he was tachypneic and had an oxygen saturation by pulse oxim-
etry of 84 percent on room air, which increased to 95 percent on 2
liters oxygen by nasal canula. A chest x-ray showed bilateral in l-
trates (Figure 211-1). He was diagnosed with acute chest syndrome American births.
and admitted to the pediatric intensive care unit, where he was
treated with intravenous uids, pain medications, and antibiotics, and American births.
made a full recovery. 2
INTRO DUCTIO N
Sickle cell diseases (SCD) are a group of genetic disorders in which
the affected individual has at least one copy of the genes that encode
β -globin chains affected by the sickle cell mutation. This mutation
causes sickling of red blood cells with resultant hypoxia and acidosis position on the gene coding for β globin.
leading to a chronic progressive multisystem disorder. Sickle cell trait
(SCT) is a condition in which affected individuals have one normal cell membrane rigidity, increased red blood cell adhesion to the
copy of the β chain gene and one sickle mutated copy. These individ- vascular endothelium, venous occlusion, and a decreased red cell
uals are generally unaffected. Hemoglobin SS disease (SCD-SS) is a
-
globin structural defect that results from the substitution of lysine
β globin.
-
lular dehydration, causing increased blood viscosity and subsequent
vaso-occlusion.
-
sequence of hypoxia and acidosis, which are caused by tissue isch-
emia that results from vaso-occlusion by irreversibly sickled red
blood cells.
RISK FACTO RS
-
ciparum malaria. This includes western coastal Africa, central
Africa, India, Saudi Arabia, and the Mediterranean. It is also seen in
South America.
FIGURE 211-1 Acute che st synd rome on che st x-ray in a young child African descent.
with sickle ce ll d ise ase . (Use d with p e rmission from Arunkumar Mod i,
MD, MPH.)
PART 19
1220 CHAPTER 211
DIAGNO SIS
CLINICAL FEATURES
Sickle cell diseases are chronic progressive multisystem disorders.
The acute clinical manifestations may be grouped into three
categories:
spleen.
~
common form of acute pain crisis.

~ Diffuse or localized pain and tenderness, along with swelling and
limited range of motion, is common.
~ Dactylitis (hand-foot syndrome) is a painful swelling of the meta-
carpals, metatarsals and phalanges and usually occurs in children
under 2 years of age (Figures 211-2 and 211-3).
~ Cerebrovascular events include occlusive stroke in large vessels FIGURE 211-3 Acute sickle d actylitis cause d b y a vaso-occlusive crisis
and aneurysms in small vessels. in a young child with sickle ce ll d ise ase . (Re p rod uce d with p e rmission
from Knoop e t al., The Atlas of Eme rg e ncy Me d icine , 3rd e d ition,
~ Acute chest syndrome is de ned as a new in ltrate on chest x-ray McGraw-Hill, 2010, Fig ure 14-67.)
associated with one or more new symptoms including fever,
cough, sputum production, dyspnea, or hypoxia and may be the
result of sickling in the lungs with or without infection (Figure
211-1). 4 can be associated with many viral and bacterial infections, but
~ Priapism is a painful and persistent erection secondary to sickling
in the corpora cavernosa. (Figure 211-4).
~ Cholecystitis occurs due to gallstones and results from persistent
hemolytic anemia.
~ Hemolytic crises occur when the patient experiences an increase ~ Splenic sequestration is the acute pooling of blood within the
in their baseline level of hemolysis.
spleen with a resultant precipitous drop in the hemoglobin level
~ Aplastic crisis occurs when there is temporary suppression of the
and/ or platelet count.
markedly increased production of reticulocytes in the marrow. It
~ Patients with SCD are at increased risk for infection as a result of
functional asplenia. They are particularly susceptible to infection
with encapsulated organisms, such as Streptococcus pneumoniae,
Haemophilus in uenzae, and Neisseria meningitides.
FIGURE 211-4 Giant p ronormob last se e n on p e rip he ral sme ar of a

p atie nt with ap lastic crisis d ue to p arvovirus B19. This re p re se nts an
FIGURE 211-2 Dactylitis, characte rize d b y p ainful swe lling of the e arly e rythroid ce ll that has b e e n infe cte d with this virus, which has a
hand s and ng e rs, in a tod d le r with sickle ce ll d ise ase . (Use d with p e r- p re d ile ction to infe ct e rythroid p rog e nitor ce lls. (Use d with p e rmission
mission from http ://www.acce sse me rg e ncyme d icine .com.) from Camille Sab e lla, MD.)
PART 19
A B
FIGURE 211-5 Frontal b ossing (A) and stunte d g rowth (B) in a young child from Haiti with untre ate d sickle ce ll d ise ase . (Use d
~ Overwhelming sepsis from pneumococcal infection was espe-

cially common prior to universal antimicrobial prophylaxis in
young children and a major cause of early death in young chil-
dren with SCD. 5
~ Osteomyelitis most often occurs at the site of necrotic segments
of bone, and is most frequently caused by Salmonella and Staphy-
lococcus aureus.
-
tent ischemic damage and include pulmonary, cardiac, renal, cen-
tral nervous system, orthopedic, urinary, and ophthalmologic
complications.
Figure 211-5),
signs of chronic anemia (Figure 211-6), and delayed puberty are
possible manifestations of long standing sickle cell disease.
for organ damage from iron overload.
screening for sickle cell disease.
screening, which shows the presence of hemoglobin S.
expression of the different hemoglobins. In individuals without FIGURE 211-6 White nail b e d s in the same p atie nt as in Fig ure 211-5.
sickle cell, at birth, there is more fetal hemoglobin (Hb F) than (Use d with p e rmission from Richard P. Usatine , MD.)
PART 19
1222 CHAPTER 211
FIGURE 211-7 Nume rous cre sce nt shap e d and sickle d ce lls on a
b lood sme ar from a p atie nt with sickle ce ll d ise ase . (Use d with p e rmis-
sion from Gary Fe re nchick MD.)
FIGURE 211-8 Fe mo ral b one infarcts on p lain x-ray in a 14-ye ar-old

adult hemoglobin (Hb A) and the screening would report “FA.” g irl with sickle ce ll d ise ase . Note the “b one within b one ” ap p e arance
Individuals with sickle cell disease syndromes show hemoglobin S, p re se nt in the p roximal and mid -fe moral shaft. (Use d with p e rmission
hemoglobin F, and depending on the syndrome possibly hemoglo- from Marg are t C. Thomp son, MD, PhD.)
bin A or hemoglobin C.
some normal Hemoglobin A produced in addition to the Hemo-
which are the sickled red blood cells (Figure 211-7). Microcytosis globin S and Hemoglobin S β -thalassemia null (SCD-Sβ ) where
and target cells are also seen in patients with SCD-Sβ Thalassemia. there is no normal Hemoglobin A.
~ Hemoglobin SC (SCD-SC) disease is a condition in which affected
IMAGING individuals have one sickle mutated copy of the β chain gene and
- one copy with a mutation with Hemoglobin C.
elitis (Figure 211-8). Differentiating infarct from osteomyelitis
can be dif cult. In general, the higher the percentage of hemoglobin S, the more
Figure clinically severe the disease. Thus, SCD-SS and SCD-Sβ tend to be
211-1). clinically most severe while SCD-SC and SCD-Sβ+ tend to be less
severe.
velocities and may be helpful in evaluating the risk for cerebral
stroke. This study should be done annually.
-
cular necrosis or osteomyelitis (Figure 211-9).
related to chronic anemia.
with varying degrees of clinical severity associated with sickle

mutated β -chain genes.
~ Two of these conditions involve a combination of sickle cell dis-
ease and β thalassemia. In these disorders, one copy of the

β -chain gene contains the sickle cell mutation while the other
copy contains a qualitative defect resulting in normal but
FIGURE 211-9 Bilate ral fe moral he ad oste one crosis on MRI in a te e n-
decreased (or absent) β chains from that gene. These disorders ag e r with sickle ce ll d ise ase . (Use d with p e rmission from Arunkumar
are Hemoglobin S β -thalassemia plus (SCD-Sβ + ) where there is Mod i, MD, MPH.)
PART 19
REFERRAL
MANAGEMENT
for all patients with SCD at the time of diagnosis.
has been used successfully in patients with SCD. However, because
of signi cant complications and limitations associated with this PREVENTIO N AND SCREENING
intervention, it is currently not the standard of care for all patients.
medical intervention and education and care in specialty clinics have

decreased morbidity and mortality in individuals with SCD. sickle cell guidelines.
-
tion of families, infection prophylaxis, rapid response to signs of
infection, and anticipatory guidance has signi cantly increased the PRO GNO SIS
lifespan of individuals with SCD.
-
hensive sickle cell clinic under the guidance of a hematologist. approximately 42 years for males and 48 years for females. For
NO NPHARMACO LO GIC
Hemoglobin F percentage is a positive predictor for survival. 15
Haemophilus
in uenzae
polysaccharide vaccines, in addition to routine age-appropriate vac- FO LLO W-UP
cinations. They should also receive annual in uenza vaccine.
SO R Patients with SCD should be seen at least once per year by a hema-
tologist and once a year by their primary care physicians.
required intermittently, especially for acute chest syndrome,
stroke, splenic sequestration, and prior to anesthesia. SO R
PATIENT EDUCATIO N
apheresis are used in high-risk sickle cell patients to prevent or
decrease the risk of long-term morbidity. SO R of follow-up care and seeking immediate care whenever there are
signs of infection.
acquiring transfusion related iron overload and the development of
allo-antibodies. PATIENT RESO URCES
www.cdc.gov/
cautious hydration when admitted to the hospital. ncbddd/ sicklecell/ index.html.
MEDICATIO NS
www.nhlbi.nih.gov/ health/ health-topics/
topics/ sca/ .
in young children with SCD and should be given to all patients
starting at 2 months of age and continued until 5 years of age. 9–11 PRO VIDER RESO URCES
SO R
www.cdc.gov/ NCBDDD/ sicklecell/
recommendations.html.
increased red cell production. SO R
http:// pedsinreview.aappublications.org/
- content/ 28/ 7/ 259.extract.
e cial in preventing complications of SCD. 12–14 SO R
www.jpeds.com/ article/ S0022-3476(08)00861-5/
abstract.
with intravenous antibiotics until infection has been ruled out.
-
roidal anti-in ammatory agents and opioids. When possible, they REFERENCES
should be treated at home, but frequently require admission for 1. American Academy of Pediatrics Health Supervision for Children
intravenous administration. with Sickle Cell Disease, Section on Hematology/ Oncology and
Committee on Genetics. Pediatrics
SURGERY
-
tion, such as avascular necrosis and cholecystitis.
PART 19
1224 CHAPTER 211
// infections, including the use of pneumococcal conjugate and poly-

www.nhlbi.nih.gov/ health/ dci/ Diseases/ Sca/ SCA_WhoIsA- saccharide vaccine, and antibiotic prophylaxis. Pediatrics.
-
penicillin in children with sickle cell anemia. A randomized trial.
// www. N Engl J Med
nhlbi.nih.gov/ health/ prof/ blood/ sickle/ sc_mngt.pdf, accessed
children with sickle cell anemia. Changing trend of survival.
JAMA.
disease: etiology and clinical correlates. J Pediatr
prophylaxis in children with sickle cell anemia. J Pediatr.
and adolescents with sickle cell disease. Cooperative Study of

Sickle Cell Disease. Pediatrics. Hematology Hydroxyurea for Children with Sickle Cell Dis-
- ease. Hematology/ Oncology Clinics of North America
- 199-214.
// www.uspreventiveservicestaskforce.org/
frequency of painful crises in sickle cell anemia. N Engl J Med.
-
atricts. Policy statement: recommendations for the prevention of -
pneumococcal infections, including the use of pneumococcal con-
jugate vaccine (Prevnar), pneumococcal polysaccharide vaccine, study, a phase I/ II trial. Blood.
and antibiotic prophylaxis. Pediatrics.
8. Overturf GD, the American Academy of Pediatrics Committee on and risk factors for early death. N Eng J Med
Infectious Disease. Technical report: prevention of pneumococcal
PART 19
NEURO BLASTO MA 1225
212 NEURO BLASTO MA INTRO DUCTIO N

Me g han Drayton Jackson, DO
Neuroblastoma is a malignant embryonal childhood tumor of the sym-
pathetic nervous system derived from primordial neural crest cells.
A 3-year-old girl presents to the emergency department with

decreased appetite, fatigue, and irritability for 1 month. She has tumor of childhood and accounts for 8 to 10 percent of childhood
periorbital ecchymoses (raccoon eyes) without a history of trauma cancers in children under 15 year of age. 1
(Figure 212-1). A CT scan is ordered to look for a neuroblastoma.
The CT scan of her orbit shows bony erosions and periosteal reaction
of her orbits. An MRI scan of her abdomen reveals a primary adrenal
tumor. A biopsy is performed of the adrenal tumor con rming the
15 per year.
diagnosis of neuroblastoma. She responds well to several courses of
chemotherapy.
are diagnosed by 5 years of age. It is rare after the age of 10 years. 1
cells and include neuroblastomas, ganglioneuroblastomas, and gan-

gliomas. They may arise anywhere along the sympathetic ganglia
and in the adrenal medulla. The etiology of neuroblastoma in most
cases remains unknown, but certain recurrent molecular abnormal-
ities have been found including ampli cation of the oncogene
3
demonstrates an autosomal dominant pattern of inheritance with

incomplete penetrance. It is associated with an earlier presentation,
and bilateral adrenal or multifocal disease. It has been linked to
mutations in the Phox2B and ALK genes.
syndrome, a rare congenital neurocristopathy that includes

-
pathetic ganglia tumors.
and often regresses or differentiates without intervention.
RISK FACTO RS
FIGURE 212-1 Ne urob lastoma p re se nting with p e riorb ital e cchymo-

-
se s (raccoon e ye s) in a 3-ye ar-old g irl. In this case , the e ye tumor is tal etiologic risk factors. 1
me tastatic d ise ase from a p rimary ne urob lastoma of the ad re nal g land .
(Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo
File s.) genetic factors.
PART 19
1226 CHAPTER 212
DIAGNO SIS
Clinical presentation depends on the site of the primary tumor, the

-
at the time of diagnosis.
CLINICAL FEATURES
-
tomatic palpable abdominal mass along with constipation, hyper-
tension due to renal artery compression, and early satiety.
-
thetic chain may present with evidence of cord compression
movement.
vena cava syndrome, and those with a tumor originating in the supe-
Figure 212-2).
Figures 212-1 and

212-3) and bone pain with bone metastasis, hepatomegaly, and
result in signs and symptoms of anemia and thrombocytopenia

(Figure 212-4). FIGURE 212-3 Bilate ral p e riorb ital e cchymose s (raccoon e ye s) in an
11-month old infant with ne urob lastoma. (Use d with p e rmission from
Binita R. Shah, MD, Atlas of Pe d iatric Eme rg e ncy Me d icine , Fig ure 8-4,
www.acce sse me rg e ncyme d icine , McGraw Hill.)
-
amine production by the tumor and diarrhea as result of vaso-intes-
tinal peptide production by the tumor.
-
-
movements.
involvement but with limited bone marrow disease and a small pri-
include patients with bone or other metastatic lesions. These
FIGURE 212-2 Horne r synd rome in a p atie nt with ne urob lastoma.

Note the smalle r p up il and p tosis of the le ft e ye . (Use d with p e rmission FIGURE 212-4 Ne urob lasts in the b one marrow of a young child with
from Acce ss Pe d iatrics, Lue d e r, Pe d iatric Practice O p hthalmolog y, me tastatic ne urob lastoma. (Use d with p e rmissio n from Cle ve land Clinic
Fig ure 18-1, McGraw Hill.) Child re n’s Ho sp ital Photo File s.)
PART 19
NEURO BLASTO MA 1227
at diagnosis.
DISTRIBUTIO N
-
-
mary tumors while children over one year of age are more likely to
present with abdominal primaries.
one year of age at diagnosis, occurs through both lymphatic and

hematogenous routes. The most common sites are regional or dis-
tant lymph nodes, bone (long bones and skull), bone marrow, FIGURE 212-5 Larg e he te rog e nous up p e r ab d ominal mass on CT
liver, and skin. Lung and brain metastases are rare and occur in scan of a 2-ye ar-old g irl with ne urob lastoma. The mass d oe s not have
less than 3 percent of cases. we ll d e ne d b ord e rs, d isp lace s and e ncase s the aorta (re d arrow), com-
p re sse s the kid ne ys, and has p unctate calci cations (b lue arrow), which
are typ ical fe ature s of ne urob lastoma. (Use d with p e rmission from
LABO RATO RY TESTING Marg are t C. Thomp son, MD, PhD.)
marrow involvement.
-
dence of tumor lysis syndrome as well as liver and kidney function. -
sis or signi cant trauma.
- -
ogy will show a small round blue cell tumor. The tumor will be
graded as favorable or unfavorable based on degree of neuroblastic
MANAGEMENT
for evidence of metastatic disease in the bone marrow (Figure
-
212-4).
nosis, stage of disease at diagnosis, histology of the tumor prior to
treatment, and presence or absence of recurrent cytogenetic
IMAGING changes including ampli cation of NMYC in all tumors and DNA
ploidy for children under 18 months at diagnosis.
tumors are not encapsulated and often displace important struc-
tures (Figure 212-5).
- observed with resection performed only if they grow or the patient
static disease if the adrenal is the primary site. becomes symptomatic.
have spontaneous regression of their disease. In cases where the

patient is symptomatic, such as with large adrenal primary tumors
- causing hepatomegaly and respiratory compromise, chemotherapy,
3
ci c for catecholamine producing tumors and should be performed
to evaluate for sites of metastatic disease and to evaluate the pri-
5
-
logic factors. These patients may be treated with surgery alone
with a low risk for relapsed. Those who do relapse are effectively
PART 19
1228 CHAPTER 212
salvaged with chemotherapy. Survival for these patients is greater PATIENT RESO URCES
than 95 percent. http:// kidshealth.org/ parent/ medical/ cancer/
neuroblastoma.html.
www.cancer.gov/ cancertopics/ types/ neuroblastoma.
(including biopsy only) and whose tumor is MYCN non-ampli ed.
www.childrensoncologygroup.org/ index.php/
tumor shows favorable biologics may also be treated as intermedi- neuroblastoma.
ate risk. Treatment includes surgical resection plus radiation to
comes for this group of patients is greater than 95 percent. http:// emedicine.medscape.com/ article/ 988284.
whose tumor is MYCN ampli ed is treated on a high-risk protocol
chemotherapy, surgery, consolidation therapy with high dose che- REFERENCES

motherapy and stem cell rescue, radiation, immune therapy, and -
cis-retinoic acid as a differentiating agent. Despite such aggres-
treatment associated morbidities. (eds). Cancer Incidence and Survival among Children and Adolescents:
United States SEER Program 1975-1995, National Cancer Insti-
SURGERY
- 1999.
Biology, Prognosis, and Treatment,

Hematology/ Oncology Clinics of North America
Seminars in Cancer Biology

-
Stanton,
dence, because they detect tumors with good prognosis, there was
Nelson Textbook
no reduction of mortality rates due to neuroblastoma. Thus, rou-
of Pediatrics, 19th ed
tine screening for neuroblastoma is not recommended.
PRO GNO SIS

Therapy for Relapsed Neuroblastoma. JCO
PART 19
WILMS TUMO R 1229
under the age of 20 years. 1 Treatment may include surgery, chemo-

213 WILMS TUMO R therapy, and radiation. With multimodality therapy, long-term cure
Ste fanie Thomas, MD rates exceed 85 percent for children diagnosed with favorable histol-
Marg are t C. Thomp son, MD, PhD ogy, even in cases of higher stage disease.
SYNO NYMS
PATIENT STO RY
Nephroblastoma.
A 6-year-old previously healthy boy presented to his pediatrician with
abdominal fullness for one month. The child had no abdominal or
gastrointestinal complaints. On examination, he had left-sided EPIDEMIO LO GY
abdominal rmness. An ultrasound revealed a mass that appeared to
originate from the kidney. He was referred to pediatric oncology. CT
scan of the abdomen con rmed a large kidney mass with displace- age are diagnosed with renal tumors in the US each year and
ment of the structures within the left abdomen, most consistent with approximately 500 of these are Wilms tumor. 1
a Wilms tumor (Figure 213-1). Work-up for metastatic disease,
including a chest CT was negative. The patient underwent nephrec- cancers in children under 15 years of age.
tomy (Figure 213-2). Pathology of the mass revealed Wilms tumor
with favorable histology. The child received chemotherapy and has
5 years, with the highest incidence in the rst 2 years of life. 1
been tumor-free.
INTRO DUCTIO N ETIO LO GY AND PATHO PHYSIO LO GY
Renal cancer, including Wilms tumor, accounts for approximately

6.3 percent of cancer diagnosed in children under the age of 15 years
and 4.4 percent of cancer diagnosed in children and young adults foci of persistent embryonal kidney cells. Although nephrogenic
A B
FIGURE 213-1 Larg e le ft-sid e d re nal mass that is we ll circumscrib e d and without calci cations on transve rse (A) and coronal (B) CT scan
of the ab d ome n, in a 6-ye ar-old b oy with Wilms tumor. Note the normal ap p e aring rig ht kid ne y. (Use d with p e rmission from Ste fanie
Thomas, MD.)
PART 19
1230 CHAPTER 213
eyes, ear creases, large kidneys, pancreatic hyperplasia, and

hemihypertrophy).
I Perlman syndrome (Wilms tumor, fetal gigantism, viscero-
megaly, unusual face, and bilateral renal hamartomas with
nephroblastomatosis).
I
ISotos syndrome (cerebral gigantism).

ISimpson-Golabi-Behemel syndrome (Wilms tumor, organomeg-
aly, bulldog facies, congenital heart disease, and polydactyly).
~ Nonovergrowth syndromes include:
IWAGR syndrome (Wilms tumor, aniridia, genitourinary
anomalies, and mental retardation).
I
I Denys-Drash syndrome (Wilms tumor, progressive renal dis-

ease, and male pseudohermaphroditism).
A I Li-Fraumeni syndrome (Familial Wilms tumor).
and are usually inherited in a dominant pattern with incomplete

penetrance. 3
of Wilms tumor for both the sporadic form and those involving
inherited predispositions syndromes, including familial occur-
rences.
-
tions. These mutations may be inherited or de novo.
changes at several sites have been identi ed as involved in the

development of Wilms. 4
B DIAGNO SIS
FIGURE 213-2 Gross ap p e arance o f the larg e re nal mass in the ab d o-
me n (A) d uring lap arotomy and following re moval (B) from the child in
Fig ure 213-1. This mass was we ll-d e marcate d from the re nal p are n- -
chyma and we ll e ncap sulate d , and was con rme d to b e a Wilms tumor
with favorab le histolog y. (Re p rinte d with p e rmission, Cle ve land Clinic
nal mass that is detected by a caretaker.
Ce nte r for Me d ical Art & Photog rap hy © 2012-2013. All Rig hts
Re se rve d .) ~ Abdominal pain (20 to 30%).
~ Fever (20 to 30%)
rests may be seen in approximately 1 percent of kidneys at birth,
~ Hematuria (20 to 30%).
they usually regress or differentiate early in life. 2
~ Hypertension (25%).
~ Anemia (bleeding into the tumor).
to be precancerous lesions.
disease and 30 to 33 months for bilateral disease. 5
who do not have any identi able risk factors.
disease (stage V).
with congenital urinary tract anomalies and may be associated with -
an established phenotypic syndrome. position syndromes, the presence of nephrogenic rests, congenital
malformations, or may be familial. 6
hypospadias.
are rare.
and nonovergrowth syndromes.
~ Overgrowth syndromes include: sinus, renal vasculature, and ureter. 8
IBeckwith-Wiedemann (Wilms tumor and other manifestations
such as macrosomia, macroglossia, omphalocele, prominent 20 percent of cases. 8
PART 19
WILMS TUMO R 1231
and less commonly liver, bone, bone marrow, or brain.

-
trolytes, urinalysis, complete blood count, and liver function tests.
versus anaplastic, extent of the tumor, and completeness of

resection.
IMAGING
~ Commonly indicates an encapsulated mass originating from

within the kidney. Calci cations are usually absent. An encapsu-
lated tumor without calci cations helps to differentiate Wilms
tumor from neuroblastoma (Figure 213-1).
FIGURE 213-4 Bilate ral p ulmonary nod ule s, re p re se nting me tastatic
~ CT scan of the abdomen and pelvis also helps to evaluate for lymph d ise ase , on che st x-ray of the same child as in Fig ure 213-3. (Use d with
spread and for evidence of disease in the contralateral kidney. p e rmission from Ste fanie Thomas, MD.)
for evidence of thrombus.

- include:
monary disease (Figure 213-3). ~ Clear cell sarcoma of the kidney, malignant rhabdoid tumor of
the kidney, renal cell carcinoma, and neuroblastoma.

sensitive to identify metastatic disease for staging purposes
(Figure 213-4). to distinguish these lesions from Wilms tumor but the ultimate
- diagnosis is based on pathology.
ful in distinguishing between Wilms tumor and nephrogenic rests.
MANAGEMENT
anaplastic), and completeness of resection.
~ Congenital mesoblasticnephroma, diffuse hyperplastic perilobar-
nephrogenic rests (pre-cancerous lesions), nephrogenic rests avoided in lieu of initial complete excision if possible.
(pre-cancerous lesions), and polycystic kidney disease.
followed by chemotherapy based on margins, tumor spill, and
histology.
further chemotherapy.
either before or during surgery or those who had a biopsy of the
-
ron sparing approach and may have partial nephrectomies for local
need for radiation is based on the local stage of each primary kidney
tumor.
-
-
tional agents are used in patients with tumors with anaplastic
FIGURE 213-3 Exte nsive p ulmonary me tastatic d ise ase on che st CT
scan of a young child with Wilms tumor. (Use d with p e rmission from histology or those whose tumor demonstrates chemotherapy
Ste fanie Thomas, MD.) resistance.
PART 19
1232 CHAPTER 213

www.cancer.gov/ cancertopics/
- pdq/ treatment/ wilms/ HealthProfessional.
demann, WAGR, Denys-Drash, idiopathic hemihypertrophy, or http:// emedicine.medscape.com/ article/ 453076.
sporadic aniridia, and those with a family history of familial Wilms,
should be screened with an ultrasound every 3 months until age
8 years. 10 REFERENCES
PRO GNO SIS

11
2. Breslow, Alshan et al. Age distributions, birthweights, nephrogen-
ics rests and heterogeneity in the pathogenesis ofWilms tumor.
is greater than 80 percent, including those with metastatic disease Pediatric Blood Cancer
(stage 4) and/ or bilateral disease at diagnosis. 11
Tumor Gene FWT1, JNCI J Natl Cancer Inst.
stage 1 or 2 disease have a 4-year overall survival rate of approxi- 4. Dome JS, Huff, V. WilmsTumor Overview in GeneReviews ,
mately 80 percent while those with stage 4 disease have a 4-year
overall survival rate of only 33 percent. 11 www.geneclinics.org; www.genetests.org.
incidence of 65 percent for all chronic conditions at 25 years after

therapy with the cumulative incidence of severe chronic health Cancer Res.
conditions being 24 percent. The late effects include:12
~ Cardiomyopathy, arrhythmias, left ventricular dysfunction asso-
ciated with doxorubicin, and whole lung radiation. trends in Wilmstumour. PediatrRadiol
~
~ Secondary malignancies associated with doxorubicin, alkylating Oncology, 6th edition. Philadelphia, PA. Lippincott Williams &
agents, and radiation. Wilkins, 2010.
~ Acute ovarian failure and premature menopause associated with
pelvic radiation and exposure to alkylating agents.
~ Oligospermia/ azoospermia associated with alkylating agents. Cancer
~ Linear growth changes associated with radiation affecting the spine.
Oncologist. 2005;10(10):815-826.
PATIENT RESO URCES
www.curesearch.org/ HealthProfessional/ page1# Section_558
Wilms-Tumor-in-Children.
-
www.cancer.org/ cancer/ search: renal tumors. Pediatric Blood Cancer.
wilmstumor/ index.
and late effects of treatment. Nature Reviews Urology. 2013;10:15-25.
PART 19
LANGERHANS CELL HISTIO CYTO SIS 1233
214 LANGERHANS CELL

HISTIO CYTO SIS
Ste fanie Thomas, MD
Marg are t C. Thomp son, MD
PATIENT STO RY
A 3-month-old female infant presented to her pediatrician with a his-

tory of a rash that had been present from birth. Her parents report
that her rash initially involved her face and trunk, and the lesions had
a red base. The rash seemed to slightly improve over the rst 2 weeks
of her life, but then progressed into red and brown, rough lesions
involving her head, face, trunk, and spread to her back then bilateral FIGURE 214-2 Multip le e rythe matous p ap ule s, ve sicle s and cruste d
lower extremities (Figures 214-1 and 214-2). They have also noted p ap ule s on the b ack in the same infant as in Fig ure 214-1. Note the
that her right eye has been watering and she has not been able to open p re se nce of some are as of p ostin ammatory hyp op ig me ntation,
whe re p ap ule s we re p re viously p re se nt. (Use d with p e rmission from
it completely over the past few days. Based on the appearance and Ste fanie Thomas, MD.)
persistence of the rash, she was referred to a dermatologist, who per-
formed a skin biopsy, which showed CD1 positive immuno-histo-
chemical staining, consistent with the diagnosis of Langerhans Cell
SYNO NYMS
Histiocytosis. Further work-up included a skull lm, which revealed
an ocular bony lesion (Figure 214-3). She underwent treatment
with a chemotherapy regimen and has done well without evidence
lesion.
of recurrence.
Diabetes Insipidus, and skull lesions.

INTRO DUCTIO N
Langerhans Cell Histiocytosis (LCH) is characterized by clonal prolif-

eration of histiocytic cells that resemble Langerhans cells of the skin
and can result in widely variable organ involvement and extent of
disease. 1 Because of the wide spectrum of the disease, treatment
depends on extent of disease.
FIGURE 214-1 Multip le re d d ish- b rown p ap ule s on the face and scalp
of an infant with Lang e rhans ce ll histiocytosis. The se le sions can b e FIGURE 214-3 Lytic le sion of the late ral roof of the rig ht o rb it on skull
confuse d with chronic crad le cap (se b orrhe ic d e rmatitis). (Use d with x-ray in the same infant as in Fig ure 214-1. (Use d with p e rmission from
p e rmission from Ste fanie Thomas, MD.) Ste fanie Thomas, MD.)
PART 19
1234 CHAPTER 214
usually self-resolving.
EPIDEMIO LO GY
2
—
and clonality) and immune dysregulation. 1

3
RISK FACTO RS
FIGURE 214-4 Ve rte b ra Plana ( atte ning of the b od y of the ve rte b ra), a
fe ature of ve rte b ral b one involve me nt in a p atie nt with Lang e rhans ce ll
DIAGNO SIS histiocytosis. (Use d with p e rmission from Marg are t C. Thomp son, MD.)
CLINICAL FEATURES
painful or asymptomatic (Figures 214-1 to 214-3). CD1a are diagnostic. 1
fever, weight loss, diarrhea, edema, and dyspnea. 1 that are present in Langerhans cells) seen on electronic microscopy
- Figure
toms of diabetes insipidus, including polydipsia and polyuria, may 214-5).
also be present. 1
DISTRIBUTIO N
multiple sites of involved system.
organs. High-risk organs include the bone marrow, liver, spleen,

and lungs. Low-risk organs include skin, bones, lymph nodes,
gastrointestinal system, and the pituitary gland. The prognosis is
worse for children with involvement of any of the high-risk organs.
Figure 214-3), but can
also include the femur, ribs, humerus, and vertebrae (Figure 214-4).

FIGURE 214-5 Birb e ck g ranule s se e n on e le ctron microscop y of a
skin b iop sy in a p atie nt with Lang e rhans ce ll histiocytosis. (Use d with
skin biopsy is typically the least invasive diagnostic procedure. p e rmission from Me lissa Piliang , MD.)
PART 19
LANGERHANS CELL HISTIO CYTO SIS 1235
IMAGING
Figure 214-3).
infants without high-risk organ involvement have had signi cant
improvement in survival.
involvement.
outcome although this has improved with intensi ed treatment

treatment within 6 weeks have the highest mortality. 1

dermatitis, erythema toxicum neonatorum, mastocytosis, acroder-
matitis enteropathica, acropustulosis of infancy, and benign
should be monitored closely for development of other organ
cephalic histiocytosis (Figure 140-7). LCH should be considered
involvement. 4
when cutaneous manifestations do not resolve despite appropriate
treatment or observation for these entities.
PATIENT RESO URCES
which can be excluded with a good history and biopsy results. www.cancer.gov/
cancertopics/ pdq/ treatment/ lchistio/ Patient.
MANAGEMENT PRO VIDER RESO URCES

www.cancer.gov/ cancertopics/
pdq/ treatment/ lchistio/ HealthProfessional.
NO NPHARMACO LO GIC www.histiocytesociety.org/
sslpage.aspx?pid= 707.
alone may be an appropriate option.
REFERENCES
MEDICATIO NS
Principles and Practice of Pediatric Oncology
4 5 (Sixth edition)
but are rarely effective alone. may also be
used in this setting.
features of Langerhans cell histiocytosis in the UK and Ireland.

corticosteroids or injection of corticosteroids into the area that is Arch Dis Child.
involved. 6
- in Langerhans cell histiocytosis. Blood
bral body or skull should be treated with systemic chemotherapy.
cell histiocytosis in children under one year. Pediatr Blood Cancer.

should be treated with systemic chemotherapy to decrease the risk
of recurrence, particularly in the pituitary gland.
-
neous Langerhans cell histiocytosis with low-dose methotrexate.
treatment with systemic chemotherapy. Such treatment usually Br J Dermatol
Treatment duration is typically for 1 year.
chemotherapy reduce remission rates compared to cortisone alone
SURGICAL in unifocal or multifocal histiocytosis of bone? Clin Orthop Relat Res.
surgeon may be suf cient.

multisystem Langerhans cell histiocytosis is associated with therapy
REFERRAL intensi cation. Blood
PRO GNO SIS
-
ment have a very favorable outcome. 1
PART 20
ALLERGY AND
IMMUNO LO GY
St re ng t h o f
(SO R) De nit io n

PART 20
1238 CHAPTER 215
ALLERGY AND IMMUNO LO GY
215 ALLERGIC RHINITIS

Brian Schroe r, MD
PATIENT STO RY
A 9-year-old girl presents to her pediatrician for constant nasal con-

gestion, runny nose, and intermittent bouts of sneezing and itching.
Her symptoms occur year-round with increased symptoms in the
spring and fall. On examination she has dark circles under her eyes
(“allergic shiners”; Figure 215-1), bilateral conjunctivitis (Figure
215-2), swollen, pale, inferior turbinates, and a copious clear watery
nasal discharge (Figure 215-3). Over-the-counter antihistamines
have helped minimally so she is given a prescription for a nasal steroid
spray to use daily. This signi cantly improves but does not eliminate
the symptoms. She is seen by an allergist who obtains a history that
she sleeps on feather pillows, lives with two cats, and also has eye
itching and redness when outside in the spring. Skin prick testing to
local environmental allergens shows positive reactions to dust mites,
cats, and grass and ragweed pollens (Figures 215-4 and 215-5).
Recommendations for avoidance of the dust mites, cats, and the out-
door pollens were given. Her technique and adherence with the nasal
steroids was discussed and she was given nasal antihistamines to treat
breakthrough symptoms.
INTRO DUCTIO N FIGURE 215-1 Mouth b re athing and “alle rg ic shine rs” e vid e nt in a
young child with alle rg ic rhinitis. (Use d with p e rmission from Brian
Schroe r, MD.)
Allergic rhinitis is a syndrome of upper airway symptoms in patients who
are sensitive to aeroallergens including but not limited to animal dander,
dust mites, mold spores, pollen, cockroaches, and rodents. Many
patients have a history of atopic dermatitis, allergic rhinitis and asthma SYNO NYMS
that together make up the “atopic triad.”These symptoms may be present
in a seasonal pattern or year-round with seasonal exacerbations. Hay fever, Allergies, Pollinosis, the snif es.
Che mos is
Follicle s
FIGURE 215-2 Conjunctival inje ction and che mosis in a p atie nt with alle rg ic conjunctivitis. (Use d with p e rmission from Strang e GR, Ahre ns WH,
Schafe rme ye r RW, Wie b e R. Pe d iatric Eme rg e ncy Me d icine 3rd e d ition. Fig ure 69-1, Ne w York: McGraw-Hill; 2009.)
PART 20
ALLERGIC RHINITIS 1239
FIGURE 215-5 Positive whe al and are re actions to multip le te ste d

FIGURE 215-3 Rig ht infe rior turb inate hyp e rtrop hy with p rod uction of alle rg e ns on Skin Prick Te sting in a young child . (Use d with p e rmission
cle ar thin mucous typ ical of alle rg ic rhinitis on nasal e nd oscop y in a from Brian Schroe r, MD.)
young child . (Use d with p e rmission from Prashant Malhotra, MD.)
RISK FACTO RS
EPIDEMIO LO GY
are exposed to common aeroallergens.

1
allergic rhinitis by a physician.
higher in people who are raised in more modern/ western commu-
nities and occurs in all ethnic groups.
allergens can be present by the age of 1 year.
and adolescence.
genetic backgrounds, but it tends to occur more often in people
who have been raised in the urban/ suburban areas of Westernized -
countries or in higher socioeconomic classes. toms when they are exposed to allergens, which oat in the air,
A B
FIGURE 215-4 Skin p rick te sting showing whe al and are re action b e fore p rick (A) and afte r 15 minute s (B). (Use d with p e rmission from Brian
Schroe r, MD.)
PART 20
1240 CHAPTER 215
enter the nasal mucosa, and bind speci c allergic antibodies called
IgE.
and intracellular signaling causing the cells to release preformed

mediators such as histamine and start production of other in am-
matory cytokines such as leukotrienes.
itching.
present year-round and lead to perennial allergic rhinitis.
percent of plants, which use the wind to disperse their pollen. The
pollen is released into the air when these plants ower, leading to
seasonal allergic rhinitis. FIGURE 215-7 De nnie -Morg an line s (infraorb ital line s) in a g irl with
the atop ic triad . (Use d with p e rmission from Richard P. Usatine , MD.)
trees, do not cause allergic rhinitis as the pollen is too heavy to get
into the nose or eyes. These owers need the owers to attract pol- CLINICAL FEATURES
linators such as bees and insects to carry the pollen from one ower
to the other. allergic shiners.
down the throat.

DIAGNO SIS
The diagnosis of allergic rhinitis is based on a history of typical symp- allergen.

toms, which occur after exposure to known allergens. Response to
treatment with over-the-counter oral antihistamines can be helpful
but will not decrease symptoms of congestion and runny nose in
patients with severe allergy. Physical exam ndings may include
Eye redness, itching, swelling, watering, or asthma symptoms of
enlarged, pale colored turbinates (Figure 215-3) with clear rhinor-
coughing, chest tightness, shortness of breath, or wheezing.
rhea, mouth breathing (Figure 215-1), conjunctivitis (Figure 215-2),
allergic crease (Figure 215-6), Dennie Morgan lines (infraorbital
folds; Figure 215-7), or a gothic arch palate. Positive history of
physical exam ndings support but do not con rm a diagnosis.
quickly and easily. Positive skin tests lead to a small hive for each
allergen (Figures 215-4 and 215-5).
be obtained, although it is less sensitive than skin prick testing. 3
clinical history.
IMAGING
-
gestion such as polyps (Figures 215-8 and 215-9), anatomic
changes such as concha bullosa (middle turbinate pneumatization;
Figure 215-8), or Haller cells (infraorbital ethmoidal air cells) and
chronic rhinosinusitis.
FIGURE 215-6 Alle rg ic cre ase s on the nose of a te e nag e b oy with

alle rg ic rhinitis. He was ob se rve d p e rforming the alle rg ic salute in the weather changes, cold air, perfumes, tobacco smoke, air pollution,
of ce . (Use d with p e rmission from Richard P. Usatine , MD.) or strong odors such as cleaning agents or chemicals. Thirty-four
PART 20
ALLERGIC RHINITIS 1241
mucopurulent discharge, facial pain, or dysosmia, lasting over
-
-
toms include hyposmia or anosmia along with refractory nasal con-
gestion (Figures 215-8 and 215-9).
nasal congestion, rhinorrhea, snoring, and allergic shiners but with-

out sneezing and itching or other atopic diseases.
(Figure 215-8), or haller cells can cause obstruction leading to

the symptom of congestion.
MANAGEMENT
NO NPHARMACO LO GIC
FIGURE 215-8 Rig ht-sid e d nasal p olyp and le ft-sid e d concha b ullosa
with d e viate d se p tum in a child with nasal cong e stion. (Use d with p e r- should involve avoiding known triggers. Avoidance can be targeted
mission from Prashant Malhotra, MD.) based on the results of allergy testing to the aeroallergens including
animal dander, dust mites, cockroaches and rodents, mold spores,
and outdoor pollens from trees, grasses, and weeds.
percent of patients with allergic rhinitis also have nonallergic triggers -
and this can be called mixed rhinitis. mal from the home as there is no evidence that any cats or dogs are
rhinitis include vasomotor rhinitis, gustatory rhinitis, occupational “hypoallergenic.”7 SO R
rhinitis, or drug induced rhinitis. 5
pest control measures such as decreasing food sources or profes-
lead to acute nasal congestion and thick discolored discharge, which sional exterminator services. SO R
is different from the thin and watery mucous of allergic rhinitis.
-
ity levels, using special dust mite covers on the pillows, mattress,
and any stuffed comforter on the bed, replacing carpeting with a
solid surface oor, and frequent vacuuming/ cleaning. SO R
central air conditioning can decrease exposure. SO R Spore levels

are often dependant on outdoor spore production, which occurs
when it is warm and wet.
during the peak pollen seasons. These seasons are dependent on

geography with trees typically pollinating in the spring, grasses in
the spring/ early summer and weeds in the fall.
outdoor allergens but are not as helpful for most indoor allergens.
SO R
humidity levels allowing dust mites to survive and they may spread
mold spores. SO R
MEDICATIO NS
-
tions such as short or long acting oral antihistamines, nasal steroids,
FIGURE 215-9 Nasal p olyp s se e n on le ft sid e d nasal e nd oscop y in a or nasal antihistamines can be used. The nasal steroid medications
young child . P=p olyp ; S=nasal se p tum; IT= infe rior turb inate . (Use d
with p e rmission from Rud olp h’s Pe d iatrics 22nd e d ition, e -370-1, give the most relief for all of the typical symptoms including sneez-
www.acce ssp e d iatrics.com.) ing, itching, rhinorrhea, and congestion. They can be used daily
PART 20
1242 CHAPTER 215
and have few side effects with nose bleeding being the most
common. SO R PRO GNO SIS
which occur despite the nasal steroids or if the symptoms are not
-
tinue to experience symptoms into old age.
be minimized by using good technique when spraying. SO R
helpful for the symptoms of sneezing and itching but do not help FO LLO W-UP
for nasal congestion or rhinorrhea.
Allergy Immunotherapy
not fully effective then allergy immunotherapy can be considered. or during evaluation of co-morbid conditions such as asthma.
~ Allergy shots have long been proven to decrease symptoms and
the need for medications for allergic rhinitis, conjunctivitis, and PATIENT RESO URCES
asthma. SO R
~ This therapy is done by giving frequent subcutaneous injections
www.AAAAI.org.
containing increasing amounts of the naturally occurring puri ed www.ACAAI.org.
allergens speci c to each patient.
~ After 3 to 5 years, this therapy changes the immune response to
the allergens leading to decreased symptoms, which can last for www.AAAAI.org.
years after discontinuation. SO R ~ -
~ The drawbacks include the time and expense of frequent visits to
the doctor’s of ce, injection site reactions, or rarely anaphylaxis. ~
CO MPLIMENTARY/ ALTERNATIVE THERAPY ~
-
~ -
rhinitis and anaphylaxis has been reported when used to treat
allergic patients.
allergic rhinitis. Therefore, ingesting these pollens regularly would REFERENCES

not lead to desensitization as occurs in allergy immunotherapy.
However some may cross react and large oral doses may lead to local physician-diagnosed allergic rhinitis in childhood. Pediatrics
or systemic allergic reactions in highly sensitive individuals. SOR
SURGERY
rhinosinusitis if present.
second update. J Allergy Clin Immunol
REFERRAL
J Allergy
not responded to typical therapies such as oral antihistamines or
Clin Immunol
nasal steroid sprays.
and nonallergic. Clin Allergy Immunol

suspicion of adenoidal hypertrophy or other structural causes of the
symptoms have been identi ed.
chronic symptoms. Cleve Clin J Med
PREVENTIO N AND SCREENING chronic rhinosinusitis. Curr Allergy Asthma Rep

J Allergy
Clin Immunol
home prevent allergic rhinitis.
typical symptoms, especially if they have a history of other atopic

diseases such as atopic dermatitis, food allergy, or asthma.
PART 20
DIGEO RGE SYNDRO ME 1243
216 DIGEO RGE SYNDRO ME conotruncal cardiac anomalies, hypoplastic thymus, and hypocalce-
mia. However, there is a wide variation in phenotypic presentations.
Lisanne Ne wton, MD
Brian Schroe r, MD
SYNO NYMS
PATIENT STO RY
A newborn infant is noted to have micrognathia, a bulbous nasal tip,

a crumpled ear helix (Figure 216-1), hooded eyes, a high arched
palate, and a submucosal cleft palate. She was diagnosed prenatally
with Tetralogy of Fallot. Tetany due to hypocalcemia is noted in the
rst 48 hours of life and requires treatment. A chest x-ray obtained is
notable for absence of a thymic shadow (Figure 216-2). Immuno-
logic laboratory data reveal CD3+ T cells are <500/ mm3. Chromo-
somal analysis is sent and reveals a deletion of chromosome 22q11.2. EPIDEMIO LO GY
She undergoes surgical repair of her heart lesion at one week of age,
and requires close follow-up of her cardiac, immunological, and met-
abolic problems. -
mately 1:3,000 to 1:6,000 births. 1
INTRO DUCTIO N
their own children, and the incidence may be underestimated
because of under diagnosis of patients with mild phenotypic
DiGeorge Syndrome (DGS), also known as 22.q11 deletion syn-
features, particularly in African Americans. 2
drome, or velocardiofacial syndrome (VCFS), describes patients with
a distinct clinical phenotype. Patients classically present with a triad of
geographic location. 3
A B
FIGURE 216-1 Dysmorp hic facial fe ature s, includ ing a small chin, crump le d e ar he lix, and b ulb ous nasal tip in a ne wb orn g irl with Di Ge org e
synd rome on frontal (A) and late ral (B) vie w. (Use d with p e rmission from Brian Schroe r, MD.)
PART 20
1244 CHAPTER 216
in an autosomal dominant manner. 3
DIAGNO SIS
CLINICAL FEATURES
the diagnosis with identi cation in the 22q11 deletion.
hypoplasia of the thymus and parathyroid glands. The severity of

the immune disorder and hypocalcemia is determined by the level
of hypoplasia but neonates with partial DGS typically present with
non-life-threatening immunologic defects.
4
and comprises <1 per-
cent of patients. It is critical to con rm this diagnosis in a timely
manner as they have a combined immunode ciency similar to SCID
and are susceptible to opportunistic pathogens. They will die
within the rst year of life without treatment.
DIAGNO STIC CRITERIA FO R DIGEO RGE SYNDRO ME

In general, if a patient has 2 or more of the following features, testing
for chromosome 22q11.2 deletion should be sent:
+ T cells <1500/ ml).
~ Low set and posteriorly rotated ears, crumpled ear deformity

FIGURE 216-2 De cre ase d thymic shad ow and card iome g aly d ue to (Figures 216-1, 216-3, and 216-4).
Te tralog y of Fallot in a ne wb orn g irl with DiGe org e synd rome . O n
op e rative re p air of the card iac d e fe ct, e sse ntially no thymic tissue was
~ Tall nasal root and bridge (Figures 216-1, 216-3, and 216-5).
note d . (Use d with p e rmission from Brian Schroe r, MD.) ~ Bulbous nasal tip (Figures 216-1, 216-4, and 216-5).
~ Ocular hypertelorism (widely spaced eyes).
delayed in patients with partial DGS and mild phenotypes.

hyponasal speech.
of the 3rd and 4th pharyngeal pouches during embryogenesis, lead-

ing to thymus or parathyroid gland hypoplasia or aplasia. Related
anomalies involve structures forming around the same time,
including the great vessels, esophagus, uvula, heart, facial, and ear
anomalies. 4
from chromosome 22q11.2. 3

appear to correlate with the clinical phenotype.
and the degree to which they are affected.
RISK FACTO RS
FIGURE 216-3 Poste riorly rotate d , crump le d e ar he lix in a ne wb orn
>90%) are spontaneous mutations and therefore are b oy with chromosome 22q 11.2 d e le tion synd rome . (Use d with p e rmis-
not inherited. sio n from Gre g or Due cke rs, MD and Tim Nie hue s, MD.)
PART 20
A C
FIGURE 216-4 Hood e d e ye s, b ulb ous nasal tip , microg nathia, and
p oste riorly rotate d e ars on frontal (A), late ral (B), and ob liq ue (C) vie w
B in a 13-month-old b oy with DiGe org e synd rome . (Use d with p e rmission
from Brian Schroe r, MD.)

should include the following. The results will depend on the degree
of thymic and parathyroid hypoplasia:
22q11.2 deletion. ~
~ Parathyroid hormone.
uses a “gene chip” to detect multiple micro-deletion and -duplica- ~ TSH.
tion syndromes. It is more sensitive than FISH analysis. ~ CBC with differential.
~ Flow Cytometry for T and B cell Subsets (CD3, CD4, CD8, and
phenotype, consider sending testing for a point mutation in T-box CD19).
1 gene (TBX1), which is associated with 22q11.2 deletion. 1 ~
PART 20
1246 CHAPTER 216
FIGURE 216-6 Normal thymic shad ow on che st x-ray in a ne o nate

with DiGe org e synd rome and Te tralog y of Fallot. (Use d with p e rmis-
sio n from Lisanne Ne wton, MD.)
colobomas in the eye, heart defect, atresia of the choanae,

retarded growth and development, genital abnormality, and ear
FIGURE 216-5 A 6-ye ar-old g irl with DiGe org e synd rome , illustrating abnormality.
the d istinctive tall nasal root and b rid g e with a b ulb o us nasal tip and a
small mouth. (Use d with p e rmission from Jord e LB, Care y JC, Bamshad
MJ, White RL. Me d ical Ge ne tics. St. Louis, MO : Mosb y; 2006. Rud olp h’s
Pe d iatrics, 22nd e d ition. www.acce ssp e d iatrics.com. The McGraw Hill feeding, hearing, visual, and liver manifestations.
Comp anie s.)
facial features (arched eyebrows, long eyelashes, long palpebral

~ Total immunoglobulin levels and speci c antibody levels to infant protruding earlobes), microcephaly, and hypotonia.
vaccines at diagnosis and again at 6 and 12 months old.
synthesis that results in multiple congenital malformations, dys-
IMAGING morphic facial features, and developmental delay.
DiGeorge Syndrome (Figure 216-2 Genetic disorder resulting in malformations of the cheekbones,
jaw, mouth, ears, eyes, and/ or vertebrae (see Chapter 34, Con-
(Figure 216-6).
-
or echocardiography in the neonate. cemia early in life but without the abnormal facial features and
congenital heart disease.
obtained if there is abdominal distention, vomiting, or not passing -
stools or any other concerning clinical signs or symptoms. tures (widely set and narrow eyes, small upper jaw, and epicanthal
folds), growth problems and nervous system abnormalities, and
cardiac abnormalities (VSD and ASD; Figure 216-7).
anomaly, agenesis, dysplasia, hypoplasia, or hydronephrosis. A -
swallowing study may be needed if there are feeding dif culties. 2 pression in the neonatal period.
PART 20
humoral immunity should be treated with immunoglobulin

replacement if necessary.
combined immunode ciency (SCID) and must be placed in isola-

tion. Once identi ed, infants with complete DGS ideally should be
promptly referred to a center capable of cultured unrelated thymic
tissue transplants, or a center capable of bone marrow or hemato-
poietic cell transplants. Ideally, patients should be transplanted
for successful engraftment. Patients are at risk for opportunistic

infections including fungi, viruses, and Pneumocystis jiroveci pneumo-
nia (PJP) and should be on antimicrobial prophylaxis based on T
cell number and function. However, stable infants may be observed
for several weeks to monitor for T cell development.
CARDIAC
requires referral to cardiology/ cardiothoracic surgery.
ENDO CRINE
especially important in patients with heart failure before or during

surgery.
FEEDING
problems can be extremely dif cult in early infancy and can be dis-
tressing for parents. There can be poor coordination of pharyngeal
muscles, tongue, and esophageal muscles.
FIGURE 216-7 Wid e -se t and narrow e ye s, small up p e r jaw, and e p i- NO NPHARMACO LO GIC
canthal fold s in an infant with characte ristic fe ature s of fe tal alcohol
synd rome . (Use d with p e rmission from Cle ve land Clinic Child re n’s
Hosp ital Photo File s.) pharmacologic and medications vary greatly depending on the clini-
cal phenotype and associated behavioral and psychiatric anomalies.
MANAGEMENT MEDICATIO NS
parathyroid hormone replacement.

phenotype and associated anomalies and the age of the patient.
severe. SO R Otherwise, antibiotics should be targeted to

genetics, immunology, otolaryngology, urology, or endocrinology
speci c infections.
based on clinical presentation.
low. SO R
neonates, including severe immune de ciency in patients with
complete DGS, congenital heart disease if present, and signi cant
SURGERY
hypocalcemia.
IMMUNO LO GIC transplant for patients with complete DGS, and correction of
palatal defects if present.
-
ity inT cell production and function over time. In some DGS patients, REFERRAL
there is a progressive decrease in T cell production, suggesting that
patients may be at risk for increasing frequency of infections with age.5 anomalies.
-
should be treated with antibiotics as appropriate. Any de ciency in ogy, genetics, immunology, and otolaryngology is indicated.
PART 20
1248 CHAPTER 216
reproductive issues. only mild to moderate dif culty with infections that usually
improves with age.
presence and severity of heart disease.
SCREENING
doctors in different specialties to ensure the best health and quality
of life.
PATIENT RESO URCES

is being done in some states.
http:// primaryimmune
.org.
affected offspring the risk of future children being affected is
50 percent, similar to an autosomal dominant condition.
Diseases, 5th edition, IDF- Immune De ciency Foundation.
Chapter 13 DiGeorge Syndrome—http:// primaryimmune
a future sibling of an affected child is low, less than 1 percent.
.org/ wp-content/ uploads/ 2013/ 06/ IDF_Patient_
Family_Handbook_5th_Edition.pdf.
2nd trimester, a fetal echocardiogram, CVS sampling, and amnio-
-
centesis samples. 3
VACCINATIO N Immunology) on DiGeorge Syndrome—http:// www.aaaai

.org/ conditions-and-treatments/ primary-
immunode ciency-disease/ digeorge-syndrome.aspx.
depends on the degree of T cell dysfunction and should be made on
a case-by-case basis. with 22q11.2. Deletion Syndrome. J Pediatric. 2011;159:2.
http:// www.ncbi.nlm.nih.gov/ pmc/ articles/
until 1 year of age when immune function has been more rmly PMC3197829/ .
established and after referral to an immunologist.
Clin Immunol. 2010;135(2):236-246. http:// ncbi.nlm.nih
.gov/ pmc/ articles/ PMC3646264.
PRO GNO SIS
REFERENCES
other associated anomalies, especially congenital heart disease.
1
deletion syndrome (DiGeorge syndrome/ velocardiofacial
syndrome). Medicine (Baltimore). 2011;90(1):1-18.
about 75 percent. Causes of death in the majority of these patients
are infections. 6 syndrome: The chromosome 22q11.2 deletion syndromes. Lancet.
2007;370(9596):1443-1452.
FO LLO W-UP
Goldenberg P, Habel A, et al. Practical guidelines for managing
patients with 22q11.2 deletion syndrome. J Pediatr. 2011;
paid to developmental delays, learning disabilities, speech delays, 159(2):332,9.e1.
hearing, or vision dif culties. 4. Buckley RH: Primary cellular immunode ciencies. J Allergy Clin
Immunol. 2002;109(5):747-757.
depression. Long-term assessment of T-cell populations in DiGeorge syn-

drome. J Allergy Clin Immunol. 2003;111(3):573-579.
PATIENT EDUCATIO N et al. Spectrum of clinical features associated with interstitial

chromosome 22q11 deletions: A european collaborative study.
J Med Genet. 1997;34(10):798-804.
depending on their unique features and the degree to which their
organs are affected.
PART 20
PRIMARY CILIARY DYSKINESIA 1249
217 PRIMARY CILIARY

DYSKINESIA
Timothy Camp b e ll, MD
Brian Schroe r, MD
PATIENT STO RY
A 13-year-old boy presents for evaluation of a chronic productive

cough and fever. Since birth, he has had persistent rhinitis, thick nasal
drainage, and recurrent otitis media. He has been seen three times in
the past year for pneumonia each time diagnosed and treated without
a chest x-ray. On physical exam, heart sounds are greater on the right
side and point of maximal impulse is felt in the right 5th intercostals FIGURE 217-2 Soft tissue swe lling of the sinuse s on sinus CT scan in a
space. A chest x-ray shows situs inversus totalis with dextrocardia p atie nt with chronic sinusitis. (Use d with p e rmission from Camille
Sab e lla, MD.)
(Figure 217-1). Computed tomography of the sinuses shows chronic
sinusitis (Figure 217-2). The diagnosis of primary ciliary dyskinesia
was considered and he underwent a biopsy of his nasal epithelium,
which revealed abnormal ciliary structure and function. This con- INTRO DUCTIO N
rmed the diagnosis and the physician explained the meaning of pri-
mary ciliary dyskinesia and the situs inversus to the patient and his Primary Ciliary Dyskinesia (PCD) is a rare genetic disease associated
parents. He was told that he will need aggressive treatments for all with abnormal cilia structure and function causing impaired clearance
future infections. of bacteria from the lungs, paranasal sinuses, and middle ear, which
leads to recurrent infections. It can be associated with other develop-
mental abnormalities such as situs inversus totalis, nasal polyposis, and
frontal sinus agenesis. Clinical manifestations include chronic cough and
chronic rhinosinusitis and recurrent sinopulmonary and ear infections.
SYNO NYMS
bronchiectasis and paranasal sinusitis (secondary to PCD).
EPIDEMIO LO GY
approximately 1 in 10,000 to 30,000 births. 1–3
PCD is caused by genetic mutations on genes which code for proteins

found in the ciliary outer dynein arm which controls the cilia beat
force and frequency.
FIGURE 2 17 -1 De xtro card ia o n che st x-ray o f a 13-ye ar-o ld b o y Figure 217-3) contain a cylinder of 9 microtubule
with Kartag e ne r synd ro me . (Use d with p e rmissio n from McGraw-Hill doublets, arranged around a central pair of microtubules in the
Fig 30-6a . Cle me nt P, Fishe r BT. Chap te r 30. Rhino sinusitis. In: Shah
SS, e d . Pe d iatric Practice : Infe ctio us Dise ase . Ne w Yo rk: McGraw-Hill; characteristic “9 + 2” arrangement as viewed by cross-sectional
2009.) views on electron microscopy.
PART 20
1250 CHAPTER 217
FIGURE 217-3 Ele ctron microg rap h of motile cilia. Notice the long
curving cilia d e monstrating active move me nt. (Use d with p e rmission
from Ian Myle s MD, Ste ve Holland MD, and Harry Male ch, MD. Scans
we re o b taine d for d iag no stic and re se arch p urp o se s afte r informe d
conse nt und e r NIH IRB ap p rove d p rotocols.)
FIGURE 217-5 Situs inve rsus totalis on che st x-ray of a young woman.
Figure 217-4) resemble sensory or primary cilia, Note comp le te mirror imag e re ve rsal of org ans. (Use d with p e rmission
which lack a central microtubule doublet and outer dynein arms, from Ian Myle s MD, Ste ve Holland MD, and Harry Male ch, MD. Scans
thus creating a “9 + 0” arrangement and leaving these structures we re ob taine d for d iag nostic and re se arch p urp ose s afte r informe d
conse nt und e r NIH IRB ap p rove d p rotocols.)
immotile.
orientation abnormalities, such as situs inversus or situs inversus

totalis (Figures 217-1 and 217-5).
- DIAGNO SIS
tribute to poor mucous clearance resulting in more frequent and
severe infections. It can inhibit sperm motility leading to infertility -
in men or cause fallopian tube dysfunction and infertility in ci c ciliary ultrastructural defects identi ed by electron microscopy
women. 4 from biopsy samples of the respiratory epithelium such as from the
mucosa of the nasal turbinates.
by depositing small particles of saccharin (or radiotracer dye par-

ticles) in the inferior nasal turbinate and measuring the time
required for the patient to taste the sweet avor or for the dye to
become visible in the throat. 5
patients with PCD. Patients with PCD will have low or absent
exhaled nitric oxide. 6
CLINICAL FEATURES
7
-
chitis, bronchiectasis (Figure 217-6), pneumonia, or otitis media.
Bronchiectasis is the irreversible dilation of the bronchi secondary
to repeated infections damaging the elastic tissue and smooth mus-
cle within the bronchi.
FIGURE 217-4 Ele ctron microg rap h of d e fe ctive cilia. Notice the recurrent infections. 8
straig ht immotile cilia. (Use d with p e rmission from Ian Myle s MD, Ste ve
Holland MD, and Harry Male ch, MD. Scans we re ob taine d for d iag nos-
tic and re se arch p urp ose s afte r informe d conse nt und e r NIH IRB with no apparent physiologic consequences) is present in 50 per-
ap p rove d p rotocols.) cent of individuals with PCD (Figure 217-5). 9
PART 20
PRIMARY CILIARY DYSKINESIA 1251
involvement may present with chronic lung and sinus disease.

-
ings without ciliary dysfunction.
MANAGEMENT
Therapies are empiric and aimed at treating consequences of dys-

functional cilia and are extrapolated from treatments of other
lung diseases such as cystic brosis.
~ Pulmonary function tests (spirometry) to de ne severity of

obstructive impairment.
~ Chest percussion and postural drainage, oscillatory vest, and
breathing maneuvers to enhance mucus clearance.
FIGURE 217-6 Bro nchie ctasis on coronal CT scan of the lung s. (Use d
with p e rmission from Ian Myle s MD, Ste ve Holland MD, and Harry
Male ch, MD. Scans we re ob taine d for d iag nostic and re se arch p ur- hearing aids and speech therapy when necessary.
p ose s afte r informe d conse nt und e r NIH IRB ap p rove d p rotocols.)
the airways (bronchitis, sinusitis, and otitis media) is essential for

preventing irreversible damage.
abnormal sperm motility. Female infertility has also been reported be encouraged to cough and engage in activities that promote deep
due to dysfunctional fallopian tubes. 4 breathing and cough (e.g., vigorous exercise).
LABO RATO RY STUDIES including pertussis, Haemophilus in uenzae type b, pneumococcus,
determine the etiology of infections in order to be more precise

with antibiotic therapy. lung disease.
IMAGING unless physiologic dysfunction requiring surgical intervention is

present.
distribution and severity of airway disease and bronchiectasis.
male infertility.
obtained when symptoms suggest sinus disease.
FO LLO W-UP
cardiology specialists regularly and as the clinical presentation
excluded (see Chapter 51, Cystic Fibrosis). dictates.
ruled out with measurement of serum immunoglobulins and B- and

PATIENT EDUCATIO N
T-cell studies (see Chapters 218, B Cell Immunode ciencies, 219,
B and T Cell Immunode cienies, and 220, Chronic Granulomatous
Disease).
cough suppressants, avoid exposure to respiratory pathogens,
tobacco smoke, and other pollutants that may damage airway
usually responds well to standard therapies (see Chapters 49, mucosa and stimulate mucus secretion.
- neonatal respiratory distress despite term gestation, chronic sino-

ci c for re ux and does not usually lead to chronic infections. pulmonary disease, bronchiectasis, situs inversus totalis, other situs
abnormalities, and male infertility should undergo diagnostic evalu-
by inspissated secretions) with chronic sinopulmonary infection. 10 ation for PCD.
PART 20
1252 CHAPTER 217
PATIENT RESO URCES

Fertil Steril. 1986;46:412-416.
www.pcdfoundation.org.
Int J
http:// rarediseasesnetwork.epi.usf.edu/ gdmcc/
Pediatr Otorhinolaryngol. 1983;5:275-279.
learnmore/ faqs.htm.

measurements to screen children for primary ciliary dyskinesia.
Chest. 2004;126:1054-1059.
www.nhlbi.nih.gov/ health/ health-topics/ topics/
pcd/ . -
sia: Age at diagnosis and symptom history. Acta Paediatr.
http:// ghr.nlm.nih.gov/ condition/ primary-ciliary- 2002;91:667-669.
dyskinesia.
in children with primary ciliary dyskinesia. Arch Otolaryngol Head
REFERENCES Neck Surg. 2010;136:1121-1126.
-
syndrome and left-handedness. Int J Dev Biol. 2006;50:571-573. sia: Diagnostic and phenotypic features. Am J Respir Crit Care Med.
2004;169:459-467.
2. Ferkol T. Primary ciliary dyskinesia (immotile cilia syndrome). In:
-
Nelson Textbook of Pediatrics, 19th ed. Philadelphia: Saunders;
2011:1497. infections. N Engl J Med. 1984;310:3-9.
PART 20
B CELL IMMUNO DEFICIENCIES 1253
218 B CELL antibody vaccine titers. Genetic testing for BTK mutation con rms
the diagnosis of X-Linked Agammaglobulinemia (XLA). Treatment
IMMUNO DEFICIENCIES with intravenous immunoglobulin replacement is started for man-
agement of antibody de ciency. Over the next 12 months, the
Ahila Sub ramanian, MD, MPH boy has a signi cant decrease in infections and is noted to have
Brian Schroe r, MD improved growth.
INTRO DUCTIO N
PATIENT STO RY
Disorders of primary B cell immunode ciency comprise approxi-
A 13-month-old boy is hospitalized with high fever, cough, and mately half of all primary immunode ciencies. They are a group of
decreased oral intake. Diagnostic work up reveals pneumococcal heterogeneous disorders resulting from disruption of B cell matura-
pneumonia (Figure 218-1). He responds well to intravenous and tion and function at various stages of development. The main role of
oral antibiotic treatment with complete resolution of symptoms. B lymphocytes is production of antibodies for recognition and
His birth history is unremarkable with a normal full-term delivery destruction of foreign antigens. Dysfunction of B lymphocytes results
and birth weight (3.3kg). At 4 months of age, he developed otitis in impaired antibody production leading to illness characterized by
media successfully treated with oral antibiotics. Since then he has unusual susceptibility to recurrent infections, particularly by encapsu-
had numerous upper respiratory and ear infections. At 8 months lated bacterial pathogens.
of age, he was hospitalized for treatment of Staphylococcus aureus B cell immunode ciencies are distinguished phenotypically by clin-
cellulitis. Each infection responded well to short courses of anti- ical severity, mode of inheritance, and age of onset. As a group, they
biotic therapy. He has received all scheduled immunizations up to share common clinical features and strategies for evaluation and man-
12 months. Physical exam reveals a pale, thin child who is below agement that will be discussed in this chapter.
the 3rd percentile for height and weight. He has normal features
and developmental milestones. Further family history reveals a
maternal uncle with similar symptoms in childhood. Immunologic SYNO NYMS
work up is notable for severe hypogammaglobulinemia and low
-
linemia.
EPIDEMIO LO GY
primary immune de ciencies. 1
births). 2
profound hypogammaglobulinemia and markedly reduced or absent

B cells. 1
FIGURE 218-1 Rig ht mid d le lob e consolid ation on che st x-ray on an
infant with X-linke d ag ammag lob uline mia. Blood culture fro m this
infant g re w Stre p to co ccus p ne umonia. (Use d with p e rmission from
Camille Sab e lla, MD.) disease severity and time of presentation. Individuals with more
PART 20
1254 CHAPTER 218
severe hypogammaglobulinemia or agammaglobulinemia have

clinical presentation earlier in life. DIAGNO SIS
-
CLINICAL FEATURES
monly between 6 and 18 months of age. Their rst infections can
present as early as 4 months as protection from passive maternal
IgG wanes. -
isms (i.e., Haemophilus in uenzae, Streptococcus pneumoniae, Staphylo-
diagnosed as an adult with onset between the 2nd and 4th decade of coccus aureus, Neisseria meningitides).
life. Giardia lamblia, Campylo-
bacter jejuni)
-
globulin levels are low but increase over time. type and vaccine-associated polio virus).
ETIO LO GY AND PATHO PHYSIO LO GY (Figure 218-2).
peripheral lymphoid organs including the lymph nodes, spleen, and

autoimmune hepatitis, autoimmune hemolytic anemia, idiopathic
thrombocytopenic purpura, rheumatoid arthritis, interstitial lung
to disruption of B cell development or the interactions between B disease, in ammatory bowel disease, or uveitis).
inheritance and spontaneous mutation. PHYSICAL FINDINGS

Table 218-1 summarizes the modes of inheritance and known
genetic mutations of the major disorders of B cell immuno- defect disorders that result in severe hypogammaglobulinemia;
de ciency. 4 Figure 218-3).
TABLE 218-1 Mod e of Inhe ritance and Imp ortant Ge ne tic Mutatio ns of the Major B Ce ll Immunod e cie ncy Synd rome s
Mo d e o f
B Ce ll Immuno d e cie ncy Inhe rit ance Ge ne t ic Mut at io n
Common Variab le Immunod e cie ncy Variab le Variab le (TACI g e ne mutation - AD)
X-linke d ag ammag lob uline mia 1 XL BTK
Autosomal re ce ssive ag ammag lob uline mia AR BLNK, LRRC8, µ, λ 5, Ig α
Sp e ci c antib od y d e cie ncy Unknown Unknown
Hyp e rIg M synd rome 1 AR AID, UNG
Se le ctive Antib od y d e cie ncy Variab le For Ig A d e cie ncy: Failure of te rminal
d iffe re ntiation in Ig A-p ositive B ce lls
Transie nt hyp og ammag lob uline mia of infancy Unknown De fe ct in d iffe re ntiation: d e laye d maturation
of T he lp e r function
1
The X-linke d mutations causing Hyp e r Ig M synd rome involve ce ll me d iate d immune d ysfunction and are classi e d und e r
Comb ine d Immunod e cie ncie s.
AD – autosomal d ominant, XL – X-linke d , AR – autosomal re ce ssive , AID - activation-ind uce d ad e nosine d e aminase d e cie ncy,
UNG – uracil nucle osid e g lycosylase d e cie ncy.
Use d with p e rmission from Chatila TA: Immunolog ic Disord e rs, in Rud olp h’s Pe d iatrics, 22nd e d ition, e d ite d b y C Rud olp h, e t al.
McGraw-Hill, 2011. Se ction 13.
PART 20
FIGURE 218-2 Re calcitrant ve rrucae vulg aris on the d orsal hand s of a

g irl with common variab le immunod e cie ncy. (Use d with p e rmission FIGURE 218-4 Sp le nome g aly in a woman with common variab le
from RL Fule ihan, AS Palle r: Ge ne tic Immunod e cie ncy Dise ase , in immunod e cie ncy. (Use d with p e rmission from Jame s Fe rnand e z, MD.)
Fitzp atrick’s De rmatolog y in Ge ne ral Me d icine , 8th e d ition, e d ite d b y
LA Gold smith, e t al. McGraw-Hill, 2012. Chap te r 143).

teric lymph nodes, tonsils, liver, and spleen.
Figure 218-4).
~ Pneumococcal antigen serotypes (polysaccharide).
Figure 218-5). ~ H in uenza type B (polysaccharide).
~ Diphtheria (protein).
Figures 218-6 ~ Tetanus (protein).
and 218-7).
relevant vaccine followed by reevaluation of vaccine titers in 4 to

6 weeks to assess antibody response.
immunization series.
Table 218-2 summarizes the common lab ndings among B cell

immunode ciencies.
IMAGING
tissue, infection, granulomas, and bronchiectasis.

FIGURE 218-3 O rop harynx showing ab se nce of tonsils in a p atie nt
with X-linke d ag ammag lob uline mia. (Use d with p e rmission from David
Kosakowski, MD.) These children will have features of both B- and T-cell
PART 20
1256 CHAPTER 218
A B
FIGURE 218-5 Initial and follo w-up hig h re solution CTs of the che st of a 10-ye ar-old b oy with common variab le immunod e cie ncy. A. Initial stud y
d e monstrating b ilate ral d e nsitie s with are as of e arly b ronchie ctasis and tre e -in-b ud formations; B. Following 2 months of intrave nous g amma
g lob ulin the rap y and antib iotics, the re is a re solution of p are nchymal d ise ase . (Use d with p e rmissio n from Fiorino, EK, Panitch HB: Re curre nt
Pne umonia, in Pe d iatric Practice : Infe ctious Dise ase , e d ite d b y SS Shah, McGraw-Hill; 2009. Chap te r 35.)
FIGURE 218-6 Non-case ating g ranulomas on the le g s of a child with

common variab le immunod e cie ncy. Culture s and sp e cial stains
showe d no org anisms. (Use d with p e rmission from RL Fule ihan, AS
Palle r: Ge ne tic Immunod e cie ncy Dise ase , in Fitzp atrick’s De rmatolog y FIGURE 218-7 Bro nchie ctasis and lung g ranulomas in a p atie nt with
in Ge ne ral Me d icine , 8th e d ition, e d ite d b y LA Gold smith, e t al. common variab le immunod e cie ncy. (Use d with p e rmission from
McGraw-Hill; 2012. Chap te r 143). Jame s Fe rnand e z, MD.)
PART 20
TABLE 218-2 Lab oratory Fe ature s of the B Ce ll Immunod e cie ncy Synd rome s
Sp e ci c Ant ib o d y Re sp o nse
B Ce ll Immuno d e cie ncy B/ T Ce lls Se rum Ig Pro t e in Po lysaccharid e
Common Variab le Variab le : normal or Usually low Usually low
Immunod e cie ncy low B/T ce lls
X-linke d ag ammag lob ulin- Ve ry low or ab se nt All isotyp e s ve ry low or None None
e mia B ce lls ab se nt
Autosomal re ce ssive Ve ry low or ab se nt All isotyp e s ve ry low or None None
ag ammag lob uline mia B ce lls ab se nt
Sp e ci c antib od y d e cie ncy Normal Normal Usually normal Low
Hyp e r Ig M synd rome Normal Ig M only Ig M only
Se le ctive Antib od y d e cie ncy Normal Usually normal Variab le

Ig for re sp e ctive
cond ition
Transie nt hyp og ammag lob u- Normal Low Ig G Usually normal Usually normal
line mia of infancy
immunode ciency, rather than just B cell de ciency manifestations

~
~ Subcutaneous immunoglobulin given once a week.

the gut usually secondary to a chronic condition such as heart
disease. Will generally not respond to immunoglobulin in conjunction with a diagnostic workup to identify the organism
replacement. and its antibiotic susceptibilities if possible.
- -
tions. While the risk of antibiotic resistance should be considered,
prophylaxis may be indicated in individuals who continue to have
on history and physical examination. clinical symptoms while on immunoglobulin replacement. SO R
chronic steroids, immunosuppressants, and anti-B cell cytotoxic procedures. SO R

therapeutics) in children with chronic conditions.
have some bene t. Patients as well as close household contacts
should receive an annual in uenza vaccine. SO R
MANAGEMENT
immunode ciencies. SO R
progression of chronic disease (i.e., bronchiectasis). REFERRAL
NO NPHARMACO LO GIC 11
~ Four or more new ear infections within one year.

avoidance of sick contacts may be helpful for mitigating pathogen ~ Two or more serious sinus infections within one year.
exposure. ~ Two or more months on antibiotics with minimal effect or need
for intravenous antibiotics for clearing infections.
MEDICATIO NS ~ Two or more pneumonias in lifetime.
- ~
viduals with immunoglobulin de ciency and associated clinical ~ Family history of primary immunode ciency.
symptoms. SO R ~ Two or more serious infections including septicemia.
PART 20
1258 CHAPTER 218
REFERENCES
of primary B-cell immunode ciencies. Pediatr Allergy and Immunol-
ogy.
of infections at well child visits.
eds. Current Diagnosis &Treatment: Pediatrics 20th ed

PRO GNO SIS
3. Bonilla, F. Primary Humoral Immune De ciencies: An Overview.
-
ciency. Overall, individuals with B cell immunode ciencies who
are treated with immunoglobulin replacement have a reasonably
good prognosis. Rudolph’s Pediatrics, 22nd ed.
Section 13.
profound hypogammaglobulinemia is crucial for improved outcome.
of intravenous immunoglobulin in primary humoral immunode -
malignancy and autoimmune disease that in turn increase morbidity ciency disease. Ann Intern Med
and mortality. -
- spective controlled two-dose crossover study with intravenous
comes. immunoglobulin and comparison (retrospective) with plasma
treatment. Clin Immunol Immunopathol
FO LLO W-UP immunode ciency diseases. N Engl J Med

8. Schwartz SA. Intravenous immunoglobulin treatment of immuno-
de ciency disorders. Pediatr Clin North Am
regular follow-up with an immunologist.
secondary antibody de ciencies. Pediatr Infect Dis J
degree of immunoglobulin impairment and clinical severity.
PATIENT RESO URCES

http:// primaryimmune SS, eds. Red Book: 2012 Report of the Committee on Infectious Diseases,
.org. 29th ed
www.info4pi.org/ jmf/ .
Foundation. 10 Warning Signs of Primary Immunode ciency
www.aaaai.org.
B AND T CELL IMMUNO DEFICIENCIES—SEVERE CO MBINED
IMMUNO DEFICIENCY (SCID) AND O THER WELL PART 20
DEFINED PRIMARY IMMUNO DEFICIENCIES 1259
219 B AND T CELL

IMMUNODEFICIENCIES—
SEVERE CO MBINED
IMMUNO DEFICIENCY
(SCID) AND O THER
WELL DEFINED PRIMARY
IMMUNO DEFICIENCIES
Brian Schroe r, MD
Tim Nie hue s, MD
Gre g or Dücke rs, MD
FIGURE 219-2 Exfoliative d e rmatitis on the p alms of the same infant

as in Fig ure 219-1. (Use d with p e rmission from Tim Nie hue s, MD and
PATIENT STO RY Gre g or Dücke rs, MD. Re p rinte d from Clinical Immunolog y, 2010,
p . 187, with p e rmission from Else vie r.)
A 2.5-month-old-baby boy presented to his pediatrician because of a
10-day history of diarrhea, which began soon after his rst series of
immunizations, which included the oral rotavirus vaccine. He was
born via uncomplicated vaginal delivery and his birth weight and CBC with differential showed an absolute lymphocyte count of
height were at the 55 percent percentile. There were no known ill 1,200 cells/ microliter. A chest x-ray was performed which showed
contacts. His weight and height, which had been 15 percent at two diffuse in ltrates and the absence of a thymic shadow. He was
months, was now lower and he had a fever to 101F. Thrush was referred to an immunologist for immediate evaluation and treat-
noted on his tongue and throat, and he was noted to have a diffuse ment. T and B cell subsets were obtained, which revealed that 90
scaling rash on the face and hands (Figures 219-1 and 219-2). A percent of his lymphocytes are B cells and that he had very low num-
bers of T of maternal origin and NK cells. He was treated with intra-
venous immune globulin (IVIG), placed on trimethoprim-sulfa-
methoxazole for Pneumocystis jirovecii prophylaxis and referred to a
specialized immunology center for a bone marrow transplant. His
bone marrow transplantation was successful.
INTRO DUCTIO N
Combined immunode ciency syndromes arise from genetic defects

leading to T lymphocyte dysfunction. Because B cells require T cells
to produce antibodies, these patients are susceptible to opportunistic
infections as well as skin and sinopulmonary infections due to bacte-
rial, viral and fungal organisms. Immune dysregulation can lead to
autoimmune disease and auto-in ammation in some syndromes. A
diagnosis of a Severe Combined Immunode ciency (SCID) is fatal
before the age of 2 years if untreated and is a medical emergency.
Some well-de ned primary immunode ciencies including Wiskott-
Aldrich Syndrome, Hyper IgE syndrome, and Ataxia Telangiectasia
may present in older patients.
SYNO NYMS
FIGURE 219-1 Exfoliative d e rmatitis cause d b y mate rnal T-ce lls in a

young infant with se ve re comb ine d immunod e cie ncy. (Use d with
p e rmission from Tim Nie hue s, MD and Gre g or Dücke rs, MD.)
PART 20
1260 CHAPTER 219
TABLE 219-1 Rep resentative Combined Immunode ciency Synd romes with their Ge ne De fe cts, Mod e of Inheritance, and the Type s of Characteristic
Infe ctions the Patie nts are Susce p tib le to
Mo d e o f
Dise ase Ge ne De fe ct s Inhe rit ance -Ge ne Infe ct io ns
Se ve re Comb ine d
Immunod e cie ncy
(SCID)
T-B+ NK- Common g amma chain (Most XL-IL2RG Mucocutane ous cand id iasis,
common: 45 to 50% of case s) Pne umocystis, Chronic d iar-
Janus Kinase 3 AR-JAK3 rhe a, Se ve re Viral infe ctions
includ ing from atte nuate d
vaccine s
T-B+ NK+ Il-7 Re ce p tor Alp ha Chain AR-IL-7RA
CD3 comp one nts AR-CD3 De lta,
Ep silon, Ze ta
T-B-NK+ Re comb inase activating g e ne s AR-RAG1/RAG2
1/2
Arte mis AR-DCLER1C
DNA Lig ase IV AR-LIG4
T-B-NK- Ad e nosine De aminase AR-ADA
Re ticular Dysg e ne sis AR-AK2
ZAP70 De cie ncy Ze ta Chain Associate d Prote in AR-ZAP70 Similar to SCID
Kinase 70kd
T+B+NK+: CD8 De fe ctive T-ce ll re ce p tor– AR-P56lck
Lymp hop e nia, CD4 associate d tyrosine kinase
Dysfunction
Comp le te DiGe org e 22q 11 d e le tion AD. Sp ontane - Similar to SCID
Synd rome ous- 22q 11
Nijme g e n Bre akag e DNA Re p air Me chanisms AR-NBN Viral URI, UTI, Gastrointe stinal
Synd rome infe ctions.
DNA Lig ase IV DNA Re p air Me chanisms AR-LIG Variable severity- some similar to
De cie ncy SCID, othe rs le ss se ve re .
Hyp e r Ig E Synd rome Sig nal transd uce r and Activator AD-STAT3 Cold Ab sce sse s, Stap hylococcus
(HIES) of Transcrip tion- 3 aure us- Imp e tig o and lung
ab sce sse s, Asp e rg illus,
Pse ud omonas, Pne umocystis,
Mucocutane ous Cand id iasis
(Fig ure 219-3), Sinopulmonary-
Hae mop hilus, Stre p tococcus
p ne umoniae
De d icator of Cytokine sis- No AR-DO CK8 Se ve re viral skin infe ctions-
ske le tal anomalie s (Fig ure s 21 9-4 and 21 9-5)
mo lluscum, warts. Bacte rial
and fung al infe ctio ns. Do
no t fo rm ab sce sse s or
p ne umato ce le s
Tyrosine Kinase 2 AR-TYK2 Nontub e rculous Mycob acte ria
Infe ctions
TABLE 219-1 Repre sentative Comb ined Immunode ciency Synd romes with their Ge ne De fects, Mode of Inheritance, and the Typ es of Characteristic
Infe ctions the Patie nts are Susce p tib le to (Continue d )
Mo d e o f
Dise ase Ge ne De fe ct s Inhe rit ance -Ge ne Infe ct io ns
Hyp e r Ig M Synd rome s CD40 Lig and , and CD40 XL-CD40L, Comb ine d immune d e cie ncy:
AR-CD40 Sinop ulmonary infe ctions
(e ncap sulate d b acte ria), Pne u-
mocystis, Cryp tosp orid ium,
Histop lasma
AID- B ce ll class switching g e ne AR-AID Humoral Immune d e cie ncy:
sinop ulmonary infe ctions, no
Uracil DNA Glycosylase AR-UNG
op p ortunistic infe ctions
Ataxia Te lang ie ctasia Ataxia Te lang ie ctasia Mutate d AR-ATM Sinop ulmonary infe ctions, rare
op p ortunistic infe ctions or
infe ctions outsid e of the
re sp iratory tract.
Chronic Mucocutane ous Autoimmune Re g ular Ge ne AR-AIRE Invasive cand id al infe ctions in
Cand id iasis STAT1 AD-STAT1 mucosal surface s, skin, and
Rare - Lyp , De ctin-1, TLR3 AR nails.
Wiskott-Ald rich Synd rome Wiskott-Ald rich Synd rome XL- WAS S p ne umoniae , Ne isse ria me nin-
Prote in AD= Autosomal g itid is, H in ue nzae , Pne umo-
Dominant, cystis, Molluscum, Varice lla,
AR= Autosomal Fung al rare
Re ce ssive
XL= X-Linke d
-
EPIDEMIO LO GY tance and spontaneous mutation.
Table 219-1).
~ Spontaneous mutations—All forms of congenital immune
births per year. 1
de ciency can occur as a spontaneous mutation.
~ The rate of all combined immunode ciencies is likely an
found a rate of 1.64/ 100,000 tests in Wisconsin. Trec screening underestimate due to children who die at an early age before a
does miss some atypical forms of SCID. 2 diagnosis can be made.
Table 219-1 describes the gene defects and infections, which

occur with many primary immunode ciencies. The table does
not include every immunode ciency but is meant to highlight
representative examples.
RISK FACTO RS
death.
FIGURE 219-3 O nychomycosis of the toe s and se ve re e cze ma of the immune de ciency.
skin in a p atie nt with AD- Hyp e r Ig E synd rome . (Use d with p e rmission
from Tim Nie hue s, MD and Gre g or Dücke rs, MD.)
PART 20
1262 CHAPTER 219
A B
FIGURE 219-4 Disse minate d molluscum viral infe ction and g ranulomas on up p e r e ye lid s b ilate rally (A) and on close
up vie w (B) in a young b oy with AR-Hyp e r Ig E synd rome . (Use d with p e rmission from Tim Nie hue s, MD and Gre g or
Dücke rs, MD. Photo B is re p rinte d from Journal of Alle rg y and Clinical Immunolog y, 2009, p . 1296, with p e rmission
from Else vie r.)
DIAGNO SIS speci c ndings, which may help guide the diagnosis.
Pneumocystis
CLINICAL FEATURES (Se e Tab le 219-2)
jirovecii and mycobacteria, or unusually severe or complicated infec-
tions, may serve as clues to the underlying diagnosis.
as the rst physical exam nding.
may be present.
ndings.
Combined de ciency should be immediately suspected if

the total lymphocyte count is less than 2500/ cubic mm
or if the T cell percentage is <20 percent. Fluorescence
Activated Cell Sorting (FACS) is a type of ow
cytometry.
(HLA DR+ / CD45+ +

) maternal T-cells in the child’s blood,
that is, by HLA Typing
<10 percent of controls should prompt further evaluation.
be done by a center, which specializes in congenital immune

de ciencies.
FIGURE 219-5 Se ve re viral infe ction of the e ye lid s in a p atie nt with

AR-Hyp e r Ig E synd rome . (Use d with p e rmission from Tim Nie hue s, MD detect many but not all combined immune de ciencies
and Gre g or Dücke rs, MD.) (see Table 219-2).
TABLE 219-2 Comb ine d Immunod e cie ncie s, The ir Characte ristics, Clinical Find ing s, and Non-Infe ctious Comp lications
Sp e cial Physical Exam/ Lab / Se rio us No n-infe ct io us Tre c Ne wb o rn

Synd ro me Rad io lo g y Find ing s Co mp licat io ns Scre e ning
SCID Failure to thrive Malig nancy Will De te ct
Ecze matous rash d ue to g raft Graft vs. host d ise ase Exfoliative
vs host d ise ase from mate rnal De rmatitis (Fig ure s 219-1, 219-2,
immune ce ll e ng raftme nt 219-6 and 219-7)
ZAP70 De cie ncy Normal Thymic Shad ow, Normal Autoimmune d ise ase such as colitis Will De te ct
or e le vate d lymp hocyte count or cytop e nias
O me nn Syn- Erythrod e rma Eosinop hilia Malig nancy Will De te ct
d rome RAG1/ Lymp had e nop athy
RAG2 He p atosp le nome g aly
Exp and e d olig oclonal T ce lls
DNA Lig ase IV Microce p haly De ve lop me ntal d e lay Will De te ct
De cie ncy Narrow Bird like face Rad iose nsitivity
(Fig ure s 219-8) Pancytop e nia Photose nsitivity
Photose nsitivity Malig nancy
Psoriasis
Comp le te Low set and posteriorly rotated ears Conotruncal Card iac De fe cts Will De te ct
DiGe org e O cular Hyp e rte lorism Hyp ocalce mia
Synd rome Bulb ous Nasal Tip Autoimmunity
Palate and Laryng e al d e fe cts
Nijme g e n Bre ak- Microce p haly Mild me ntal re tard ation Malig nancy Will De te ct
ag e Synd rome Narrow Bird like face
Short Stature
AR HIES- DO CK8 No typ ical Physical e xam nd ing s Ne urolog ic Comp lications Will De te ct
as found in AD-HIES Autoimmune d ise ase
AD-HIES- STAT3 Broad nasal b ase and b rid g e Se ve re Atop ic De rmatitis Will Not De te ct
(Fig ure 219-9) Pne umatoce le s Bone fracture s
Frontal b ossing Vascular Ab normalitie s
Coarse facie s Lymp homa
Re taine d p rimary te e th
Scoliosis
Ataxia Telangiectasia Prog re ssive ce re b e llar ataxia. Rad iose nsitivity p hotose nsitivity May De te ct (3)
(Fig ure s 219-10 O culocutane ous te lang ie ctasias Diab e te s
and 219-11) Malig nancy
Ble e d ing
Hyp e r Ig M Lymp hoid hyp e rp lasia Autoimmune d ise ase Will Not De te ct
Synd rome AID Varie s b ase d on d e fe ct
De cie ncy May includ e Diarrhe a, live r
d ise ase , cholang itis and
cholang iocarcinoma
Chronic Mucocu- Mucocutane ous fung al infe ction Autoimmune d ise ase Will Not De te ct
tane ous ofte n e xte nsive End ocrinop athy
Cand id iasis O nychomycosis Malig nancy
(Fig ure 121-8) Vitilig o
Alop e cia Are ata
Wiskott-Ald rich Ecze ma Autoimmune Dise ase Will Not De te ct
Synd rome Lymp had e nop athy and Malig nancy
He p atosp e nome g aly Ble e d ing
Small Plate le ts
PART 20
1264 CHAPTER 219
FIGURE 219-6 Se ve re e xfo liative d e rmatitis in a 5-we e k-old infant

hig hly susp e cte d of having se ve re comb ine d immunod e cie ncy in
association with an unknown synd romatic d ise ase . (Use d with p e rmis-
sion from Tim Nie hue s, MD and Gre g or Dücke rs, MD.)
IMAGING
FIGURE 219-7 Exfoliative d e rmatitis on the b ack and scalp of the
immune de ciency and may show evidence of atypical pneumonia. same infant as in Fig ure 219-6. (Use d with p e rmission from Tim
Nie hue s, MD and Gre g or Dücke rs, MD.)
demonstrate increased radiosensitivity. x-ray imaging poses more

risk for malignancy in these patients. type and extent of involvement.
DIFFERENTIAL DIAGNO SIS Syndrome or CHARGE) will show decreased but present numbers
of T cells. These patients will have other characteristic congenital
defects (e.g., skeletal and conotruncal abnormalities, or hypocalcemia.
with a CBC and differential to identify the T and B lymphocyte The diagnosis can be con rmed with appropriate genetic testing for
subset pattern. 22q11 (see Chapter 216, DiGeorge Syndrome).
A B
FIGURE 219-8 Microce p haly and narrow face in a p atie nt with DNA Lig ase IV d e cie ncy on full (A) and close -up (B) vie ws. (Use d
with p e rmission from Tim Nie hue s, MD and Gre g or Dücke rs, MD. Re p rinte d from Wahn/Nie hue s Primäre Immund e fe kte , 2013,
p . 22, with p e rmission from Marse ille Ve rlag .)
FIGURE 219-9 Characte ristic facial fe ature s o f b ro ad nasal b rid g e ,

d e e p se t e ye s, e cze matous le sions on the che st and coarse ning of the
facial skin in an 18-ye ar-old woman with AD-Hyp e r Ig E d e cie ncy. (Use d FIGURE 219-11 Gait chang es in a young g irl with Ataxia Telangiectasia.
with p e rmission from Gre g or Dücke rs, MD and Tim Nie hue s, MD.) (Use d with permission from Tim Niehue s, MD and Gre g or Dückers, MD.)
-
maglobulinemia. These patients will have absent B cells and and normal or increased immunoglobulin levels and usually a
antibodies but normal T cell numbers, and usually present
from 1to 2-years-old due to initial protection from maternal
Immunode ciencies).
enteropathy and loss of immunoglobulins.
metabolic conditions (i.e., folate malabsorption; see Chapter 53,

lead to low immunoglobulins and lymphocyte counts.
Failure to Thrive).
A B
FIGURE 219-10 Characte ristic b ilate ral (A) and rig ht e ye (B) conjunctival te lang ie ctasias in a young b oy with Ataxia Te lang ie ctasia. (Use d with
p e rmission from Tim Nie hue s, MD and Gre g or Dücke rs, MD.)
PART 20
1266 CHAPTER 219
PATIENT RESO URCES

MANAGEMENT
http:// primaryimmune
.org.
immediately on suspicion of a combined immune de ciency.
Foundation—www.info4pi.org/ jmf.
NO NPHARMACO LO GIC
tory precautions should be considered.
Reference—http:// ghr.nlm.nih.gov.
residual lymphocytes entirely, because donor lymphocytes can
cause fatal GvHD. www.aaaai.org.
immune defects (Adenosine Deaminase [ADA] de ciency, www.ncbi.nlm.nih.gov.

Il-2RG). 4,5 SO R
6
www.esid.org.
SO R
-
cation from the internationalunion of immunological societies
MEDICATIO NS expert committee for primary immunode ciency.
Pjirovecii prophylaxis, Stem cell

transplant, and prophylactic antibiotics should be considered. REFERENCES
- -
cessfully in many types of combined immunode ciency. 7 -
REFERRAL
combined immunode ciency. J All Clin Immunol
referred to an immunologist or a center specializing in immunode ciency. 597-604.

Newborn screening for SCID identi es patients with ataxia telan-
giectasia. J Clin Immunol
combined and humoral immunode ciencies usingTrec and κ - deleting
recombination excision circles (Krec) respectively. This allows for early primary immunode ciency. Current opinion in pediatrics. Curr
diagnosis and intervention before infections can begin. Opin Pediatr
5. Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, et al. Gene
therapy for immunode ciency due to adenosine deaminase de -
PRO GNO SIS ciency. The New England Journal of Medicine.
marrow transplantation and an adjunct to gene therapy for adenos-

clinical situation. ine deaminase de ciency. Hum Mutat
-
cations of infection and in ammation. transplantation for primary immunode ciency. Expert Rev Clin
Immunol
FO LLO W-UP on the classi cation from the international union of immunological
societies expert committee for primary immunode ciency. Front
The patients should be followed in centers, which have experience Immunol.
dealing with primary immune de ciencies.
PART 20
CHRO NIC GRANULO MATO US DISEASE 1267
220 CHRO NIC SYNO NYMS

GRANULO MATO US CGD, Chronic Dysphagocytosis, Chronic Familial Granulomatosis,
DISEASE Septic Progressive Granulomatosis, Fatal Granulomatosis of Child-
hood, Impotent Neutrophil Syndrome, Congenital Dysphagocytosis,
Justin Gre iwe , MD
Bridges-Good syndrome, and Quie syndrome.
Gre g or Dücke rs, MD
Tim Nie hue s, MD
Brian Schroe r, MD
EPIDEMIO LO GY
PATIENT STO RY
disease presentation ranging from infancy into late adulthood.
A 4-year-old boy presents with a recent history of persistent pneumo-
nia. A detailed past medical history reveals several recurrent infec-
tions including pneumonia and lymph node abscesses growing Staphy-
lococcus aureus and Burkholderia cepacia. His parents claim that he has ETIO LO GY AND PATHO PHYSIO LO GY
been prescribed multiple courses of antibiotics over the last month
with no improvement in his respiratory symptoms. There is no family
history of immunode ciency. Examination of the child revealed mild oxygen compounds like superoxide, which is essential for direct
subcostal retractions and diffuse rales bilaterally. A chest x-ray dem- killing of certain catalase-positive bacteria and fungi.
onstrated bilateral in ltrates of the upper and middle lung elds and a
CT showed multifocal pneumonia (Figure 220-1). Diagnostic bron-
choalveolar lavage and serological tests con rmed the presence of is a complex made up of subunits. One of 4 subunits may be defec-
invasive pulmonary aspergillosis and the patient was placed on appro- tive in CGD.
priate antifungal treatment. Because of the history and types of infec-
tion, a work-up for immunode ciency was undertaken and the child
was found to have chronic granulomatous disease. recessive forms of CGD are caused by mutations in the remaining
fth subunit, p40phox, has been found to contribute to the autoso-

INTRO DUCTIO N mal recessive form of CGD as well.
Chronic granulomatous disease (CGD) is the result of impaired intra- subunits leads to susceptibility of infection from any number of
cellular microbial killing by phagocytes leading to formation of granu- microorganisms (most commonly Staphylococci, Aspergillus,
lomata and recurrent infections with bacteria and fungi. Phagocytes Serratia, Nocardia, and Burkholderia).
are unable to kill the microbes they ingest secondary to a defect in a
system of enzymes that produce reactive oxygen compounds. The
most common and severe form of CGD is the X-linked type (~ 70% RISK FACTO RS
of all CGD cases) seen only in boys.
the gene to their offspring in an autosomal recessive manner.
DIAGNO SIS
use or if the manifestations are less severe (as in the autosomal

recessive forms of the disease).
FIGURE 220-1 Multifocal p ne umonia on CT scan in a young b oy with
chronic g ranulomatous d ise ase . (Use d with p e rmission from Alison
Gre iwe , MD.) lyonization of the functional gene creating a mosaic pattern. This
PART 20
1268 CHAPTER 220
FIGURE 220-2 Lup us e xanthe ma in the mothe r of a p atie nt with

chronic g ranulomatous d ise ase , e xe mp lifying the conce p t of lio nization
of the functional g e ne in carrie rs. (Use d with p e rmission from Gre g or
Dücke rs, MD, and Tim Nie hue s, MD.)
can create a discoid lupus appearance (Figure 220-2).

female carriers are asymptomatic.
CLINICAL FEATURES
Infe ction
often manifesting as pneumonia, abscesses, suppurative adenitis

(Figure 220-3), osteomyelitis (Figure 220-4),
fungemia, super cial skin infections, and organ abscesses (liver,
spleen, brain; Figure 220-5). FIGURE 220-4 O ste omye litis of the le ft mand ib le in a young b oy with
S. chronic g ranulomatous d ise ase . (Use d with p e rmissio n from Gre g or
Dücke rs, MD and Tim Nie hue s, MD.)
aureus and Burkholderia. Fungi isolated in CGD are Aspergillus and
Nocardia species. 7
In ammation
FIGURE 220-3 Fluctuant ing uinal lymp had e nitis in a young p atie nt FIGURE 220-5 He p atic ab sce ss in live r, as a manife station of chronic
with chronic g ranulo matous d ise ase . (Use d with p e rmission from g ranulomatous d ise ase in a young p atie nt. (Use d with p e rmissio n from
Gre g or Dücke rs, MD and Tim Nie hue s, MD.) Gre g o r Dücke rs, MD and Tim Nie hue s, MD.)
PART 20
FIGURE 220-7 Ge osmithia fung us isolate d from a p atie nt with oste o-

mye litis and chronic g ranulomatous d ise ase . (Use d with p e rmission
from Gre g or Dücke rs, MD, and Tim Nie hue s, MD.)
IMAGING
abscesses in the lung, spleen, or liver (Figure 220-5).

FIGURE 220-6 Impaire d wound he aling afte r incision and d rainag e of
an infected lymph nod e in a child with chronic granulomatous d isease.
-
(Use d with permission from Greg or Dücke rs, MD and Tim Niehues, MD.) ganisms can be caused by any of the following and should be con-
~ Other primary immunode ciencies (B-cell de ciency, Hyper-

immunoglobulin E syndrome (HIES), leukocyte adhesion de -
including the gastrointestinal, genitourinary, pulmonary, and
central nervous systems.
Figure 220-6). B-cell Immunode ciencies.
~ Secondary immunode ciencies, that is, Human Immunode ciency
picture of in ammatory bowel disease.
~
PHYSICAL FINDINGS
~
In ammatory Bowel Disease.
MANAGEMENT
LABO RATO RY TESTING -
- ment of infections in CGD must be early and aggressive.
razolium as a more effective screening tool because it is easier to
use, more objective and more accurate. 9 NO NPHARMACO LO GIC
establish an inheritance pattern, and provide valuable information for the patient, family, and close contacts.
for family counseling.
(Figure 220-7 - on time as per the standard schedule. They may receive live virus
ology lab. vaccines.
PART 20
1270 CHAPTER 220
and may be appropriate in refractory or life-threatening PREVENTIO N AND SCREENING

infections. Gene therapy as a cure is still far from becoming a
reality.
be bene cial prior to conception.

MEDICATIO N
travel in tunnels due to the risk of exposure to Aspergillus
conidia.
trimethoprim-sulfamethoxazole and itraconazole remain rst-line
therapy and are commonly used. SO R
PRO GNO SIS
received subcutaneous interferon (IFN)-gamma had signi cant
reductions in the number of serious infections. SO R The
potential drawbacks for IFN-gamma include adverse side effects increased morbidity and mortality in their early teen years.
-
and cost. fungal prophylaxis as well as more successful stem cell transplanta-
tion, prognosis of patients with CGD has signi cantly improved
Tre atme nt of infe ctions over the past two decades.
biopsies) and targeted treatment (parenteral, several weeks

duration). SO R FO LLO W UP
be performed only in specialized centers who are experienced with

CGD. SO R patients with CGD because early and aggressive treatment of
infections and in ammation is essential to prevent severe
Tre atme nt of in ammation complications.
like the stomach, ureters, or urinary bladder can be relieved by

PATIENT RESO URCES
short-term steroid therapy. SO R
Organizations Providing General Support
SURGERY www.info4pi.org/ jmf.
-
mas are very often drained or removed surgically, if steroid therapy www.cgd.org.uk.
fails. SO R
www.cgdassociation.org.
Curative tre atme nt
www.geneticalliance.org.
SCT is a good option for children who suffer from serious infec-
tions despite prophylaxis. SO R www.rarediseases.org.
Social Networking Websites
remain to be determined. SO R
stories from people facing issues, making tough decisions, and
REFERRAL
www.dnaandu.org.
suspected to have an immunode ciency. www.madisonsfoundation.org.
treatment for fungal or severe bacterial infections.

- www.rareshare.org.
tion as a result of granuloma formation.
patient. Family members will receive counseling about the bene ts www.aaaai.org/ conditions-and-treatments/ primary-
and risks of testing for the carrier state. As the patient gets older, immunode ciency-disease/ chronic-granulomatous-
he or she may want to discuss the issues of childbearing and the risk disease.aspx.
of passing on CGD to their offspring.
PART 20
www.asgct.
org/ general-public/ educational-resources/ chronic granulomatous disease presenting in a female with a de
gene-therapy-and-cell-therapy-for-diseases/
immunode ciency-diseases. skewed X chromosome inactivation. Clin Immunol
http:// ghr.nlm.nih.gov/
condition/ chronic-granulomatous-disease.
disease-pathogenesis-clinical-manifestations-and-diagnosis?source=
(NIAID) supports scientists developing better ways to diagnose,
treat, and prevent the many infectious, immunologic, and aller-
www.niaid.nih
.gov/ topics/ immuneDe ciency/ Understanding/
Pages/ cgd.aspx. X-linked chronic granulomatous disease. Pediatr Dermatol.
www.rarediseases.org/ rare-disease-information/
rare-diseases/ viewSearchResults?term=Granulomat Curr Opin Hematol
ous%20Disease,%20Chronic.
involvement in chronic granulomatous disease. Pediatrics
http:// omim.org/ entry/ 306400.
9. N. Franklin Adkinson et al. Middleton’s Allergy: Principles and Practice,
7th Edition
REFERENCES
- Br J Haematol
Medicine (Baltimore).
infection in chronic granulomatous disease. N Engl J Med
Bernatowska E, et al. Chronic Granulomatous Disease: The European
Experience
overview and hematopoietic stem cell transplantation. J Allergy
granulomatous disease with autosomal recessive mutations in p40 Clin Immunol
phox and selective defects in neutrophil NADPH oxidase activity.
Blood
PART 21
GENETIC DISO RDERS
St re ng t h o f
(SO R) De nit io n

PART 21
1274 CHAPTER 221
GENETIC DISO RDERS
221 DO WN SYNDRO ME
Di Sun, BS, MPH
PATIENT STO RY
A 2-day-old baby boy is brought to the emergency department for vom-

iting. The patient’s mother is a 25 year-old single parent who did not
receive prenatal care, and the baby was born at home via vaginal delivery
at 39 weeks gestation. The mother reports that the baby vomits when-
ever she tries to breastfeed him and that the emesis appears green and
thick. The infant is noted to have epicanthal folds, upward-slanting pal-
pebral ssures, at nasal bridge, a single transverse palmar (simian) FIGURE 221-2 Sing le transve rse p almar cre ase in an infant with Down
crease, and small ears (Figures 221-1 and 221-2). The examining phy- synd rome (simian cre ase ). This is se e n in ab out 50 p e rce nt of infants
sician suspects the child has Down syndrome and orders an abdominal with Down synd rome and can b e se e n in infants and child re n who d o
not have Down synd rome . (Use d with p e rmission from Cle ve land Clinic
x-ray, which reveals a “double-bubble,” consistent with duodenal atresia, Child re n’s Ho sp ital Photo File s.)
and is associated with Down syndrome. (Figure 221-3). The baby
undergoes surgical correction of the atresia and recovers completely. A
phenotypic appearance. 1,2 Children commonly present with
chromosomal analysis con rms the diagnosis of Down syndrome.
congenital cardiac, hematologic, musculoskeletal, visual, and/ or
auditory defects. 3 4
INTRO DUCTIO N
SYNO NYMS
genetic material on chromosome 21, and results in a distinctive Trisomy 21.
FIGURE 221-1 Ep icanthal fold s, up slanting p alp e b ral ssure s, at FIGURE 221-3 “Doub le b ub b le ” sig n of d uod e nal atre sia on p lain
nasal b rid g e , and wid e g ap b e twe e n the rst and se cond to e in an x-ray in a child with Down synd rome . Infants with Down synd rome have
infant with Down synd rome . (Use d with p e rmission from Cle ve land an incre ase d incid e nce of inte stinal atre sias. (Use d with p e rmission
Clinic Child re n’s Hosp ital Photo File s.) from Elumalai Ap p achi, MD.)
PART 21
DO WN SYNDRO ME 1275
GENETIC DISO RDERS
EPIDEMIO LO GY decreased recombination or pericentromeric exchange, will

1
5
alcohol use, maternal irradiation, and low socioeconomic status.
However, these associations have not been con rmed. 7
higher since it is estimated that 67 percent women (range 61% to
-
nate the pregnancy. 6 DIAGNO SIS
21 live births was 0.77 among African American mothers and 1.12 CLINICAL FEATURES
among Hispanic mothers. These differences could re ect ethnic dif-
ferences in accessibility to prenatal screening, variation in the deci-
Figure 221-1).
sion to terminate the pregnancy, or reporting bias inherent to the
design of the study. 7 Figure 221-1).
-
gers, most commonly the fth nger toward the other four ngers;
<35 years of age. 4 Figure 221-4).
Figure 221-2).
ETIO LO GY AND PATHO PHYSIO LO GY Figure 221-5).

Figures
of chromosome 21, resulting in 3 complete copies of chromo- 221-6 and 221-7).
some 21. 2 Figures 221-6 and 221-7).
~ In 86 percent of these cases, the extra chromosome originated
Figure 221-8).
Patients can also have maxillary and pharyngeal hypoplasia, which
21 is derived from the father. Less than 5 percent of complete can lead to hearing loss and nasal obstruction. 2,3
trisomy 21 is due to mitotic errors. 1 -
~
ment of normal milestones in the low-normal timeframe, but their
maternal age, which is correlated with a decrease in genetic 3
recombination. 1
translocations, including balanced Robertsonian translocations of ~ Hearing loss (75%).

chromosome 21q paired most commonly with chromosome 14q. ~
In patients with balanced translocations, parents should be screened errors.

to ensure that one of them is not a phenotypically normal carrier of
a balanced translocation. 1
cell lines are expressed, one with trisomy 21 and the other with
normal cytogenetics. 1
-
type, the best studied of which being the central nervous system
decreased numbers of cortical neurons, stagnation of dendritic tree

development at 4 months of age, decreased number of synapses,
1
RISK FACTO RS
-
FIGURE 221-4 Clinod actyly (curvature of one ng e r toward the othe r
mulation of environmental insults to the oocyte and/ or gradual ng e rs) is commonly se e n in Down synd rome . (Use d with p e rmission
attrition of the meiotic machinery. 1 from Richard P. Usatine , MD.)
PART 21
1276 CHAPTER 221
GENETIC DISO RDERS
FIGURE 221-5 Small, low-se t e ars in a b oy with Down synd rome . This
b oy also has cruste d scab ie s, visib le on his scalp and ne ck. (Use d with
~ Congenital heart disease (50%) with the most common being

- FIGURE 221-7 Ep icanthal fold s, up ward -slanting p alp e b ral ssure s,
and at nasal b rid g e in a 3-ye ar-old g irl with Down synd rome . This g irl
ated with Heart Disease). was living in she lte r for child re n with d isab ilitie s in a re mote p art of
~ Gastrointestinal atresia (12%; Figure 221-3). Pe ru and was found to have a g rad e 4 p ansystolic murmur and sig ns of
~ Thyroid disease (4 to 18%). cong e stive he art failure , like ly from an und iag nose d ve ntricular se p tal
d e fe ct. (Use d with p e rmission from Sang e e ta Krishna, MD.)
~ Polycythemia (18 to 64%).
~
~ Transient myeloproliferative disorder (10%).
~ Celiac disease (5%).
~ Leukemia (1%).
~ Atlantoaxial instability (1 to 2%).
~ Autism (1%). detects trisomy 21 and is available within 1 to 2 days. A positive
~ Hirschsprung (<1%). 3 test requires con rmation with a complete cytogenetic analysis
~ - which detects translocations. 2
order (6.1%), conduct disorder (5.4%), or aggressive behavior
a thorough physical exam evaluating for duodenal and anorectal
disorder (6.1%). 3 -
racts using red re ex testing, and hearing loss via brainstem auditory
evoked response. 2
including transient myeloproliferative disorder, which increases the
free thyroxine should also be drawn to screen for congenital hypo-

thyroidism. 2
FIGURE 221-8 Sp e ckle d white sp ots on the iris (Brush e ld sp ots) in an

infant with Down synd rome . The se are p re se nt in 90 p e rce nt of infants
FIGURE 221-6 Ep icanthal fold s, up ward slanting p alp e b ral ssure s with Down synd rome b ut are also se e n in infants without Down syn-
and at nasal b rid g e in the same b oy as in Fig ure 221-5. (Use d with d rome . (Use d with p e rmission from Cle ve land Clinic Child re n’s Ho sp ital
p e rmission from Richard P. Usatine , MD.) Photo File s.)
PART 21
DO WN SYNDRO ME 1277
GENETIC DISO RDERS
IMAGING
for congenital heart disease. 2

corpuscular volume is elevated in up to 45 percent of patients, and
-
serum ferritin may be elevated from chronic in ammation. Thus,
culties, laryngoscopy can assess for airway abnormalities, and
neither of these are useful screening tools for iron de ciency. 2
abdominal x-ray can diagnose duodenal atresia (Figure 221-3). 2
-
chiatry if there is high suspicion for autism or attention-de cit/
DIFFERENTIAL DIAGNO SIS hyperactivity disorder, for early intervention. 2
help with behavioral and neurocognitive development of the patient. 2
MEDICATIO NS
testing may be useful.
-
tions with medications speci c to the condition.
which presents with typical clinical features including rocker
bottom feet and severe neurodevelopmental delay. SURGERY
-
tonia and abnormal elevation of very long chain fatty acids, espe- congenital heart disease may require surgical correction; those with
cially those with 26 carbon atoms, and an increased ratio of C26 to intestinal atresia require abdominal surgeries.
C22 fatty acids in the plasma, as well as broblasts and amniocytes.
surgeries, especially during intubations, and should be kept in mind.
MANAGEMENT
REFERRAL
family, early screenings to allow for early interventions for any ophthalmology for evaluation of strabismus, cataracts, and
amblyopia.
study to assess for obstructive sleep apnea.

NO NPHARMACO LO GIC
- should be referred to cardiology.
tract infections. Those with hemodynamically signi cant congenital

hematocrit should be referred to hematology/ oncology.
heart lesions or comorbid conditions should receive respiratory syn-
cytial virus prophylaxis between birth and 12 months old. 2 SOR
apnea, refer to pulmonology.
should warn providers to avoid excessive extension or exion of -
the cervical spine during procedures. 2 yngology.
-
dren have frequent ear infections, drainage from the ear, or hearing surgery.
loss. Patients should be referred to otolaryngology as necessary. 2
- aspiration pneumonia should be referred to pulmonology and may
tive sleep apnea. A sleep study can be ordered for symptomatic require gastrostomy tube placement by surgery to maintain feeds.
patients but it is recommended that all patients undergo a sleep
study by 4 years of age. Patients found to have obstructive sleep PREVENTIO N AND SCREENING
apnea should be referred to otolaryngology and/ or pulmonology. 2
referral to neurology as needed. 2 women of all ages.
ultrasound and maternal serum levels of β -hCG and pregnancy

with ophthalmology since 50 percent patients will develop refrac- associated plasma protein (PAPP-A). Increased nuchal translucency,
tive errors leading to amblyopia at <5 years of age. 2 high β
- factors and maternal age into account, the risk of the fetus having
tions of heart failure including failure to thrive, feeding dif culties,
2 6,8
PART 21
1278 CHAPTER 221
GENETIC DISO RDERS
have diagnostic testing via chorionic villus sampling in the rst tri-
mester or can proceed with the quad screen (maternal serum levels resources/ support groups that can help parents.
of β
for a revised risk assessment. 6,8 PATIENT RESO URCES
www.ndss.org.
risk assessment can undergo the quad screen in the second trimes-
www.ndsccenter.org.
and increased inhibin A and β
based on this data and patient data. The quad screen alone has a www.brightertomorrows.org.
sensitivity of 80 percent, but when combined with rst semester www.ndss.org/
screen, the two tests have a sensitivity of 95 percent with a 5 per- PageFiles/ 2981/ NDSS-NPP_English_LR.pdf.
cent false positive rate. 6,8 www.ndss.org/ Resources/
Local-Support.
(the risk of miscarriage with diagnostic testing) and who desire
a de nitive diagnosis can proceed with amniocentesis during the PRO VIDER RESO URCES
second trimester. Amniocentesis allows for de nitive chromo- www.guideline.gov/ content.
somal analysis. 6,8 aspx?id=10921.
PRO GNO SIS
Health supervision for children with Down syndrome. Pediatrics.
http:// pediatrics.aappublications.
org/ content/ 128/ 2/ 393.full.pdf.
activities of daily living. 9
3 REFERENCES
was highest among patients with congenital heart disease both in multifactorial disorder. Hum Mol Genet
the immediate post-natal period and through age 20 years. 9
with Down syndrome. Pediatrics
- Lancet. 2003;
natal period and through age 10 years. 9
FO LLO W-UP (AMA) and the impact on the predicted incidence of Down syn-
counseling. Am J Med Genet A

their pediatricians at least annually.
Prevalence estimates for selected birth defects in the United
-
Birt Defects Res A Clin Mol Teratol.
mined by the individual specialty depending on patient situation.
PATIENT EDUCATIO N
rates (1995–2011). Prenat Diagn
-
nia, delayed teething, and lower intelligence quotients. All parents
of Down syndrome. Ment Retard Dev Disabil Res Rev
should understand the importance of warning other providers
221-227.
about possible atlantoaxial instability during procedures.
N Engl J
Med
out for that may indicate development of conditions associated
obstructive sleep apnea, heart failure, vision problems, and

hematologic derangements including anemia and lymphoprolifera- in survival among children with Down syndrome in 10 regions of
tive disorders. Pediatrics
PART 21
TURNER SYNDRO ME 1279
GENETIC DISO RDERS
222 TURNER SYNDRO ME

PATIENT STO RY
A 6-year-old girl is brought to the pediatrician because of swelling in

her lower legs that was noted by her mother over the past few weeks.
The child has otherwise been well. Review of the growth parameters
showed the girl to be at less than the 5th percentile for height. The
girl exhibited edema of the lower extremities (right > left), low set
ears, ptosis, and mild micrognathia (Figures 222-1 and 222-2).
The pediatrician suspected Turner syndrome and referred the child to
a pediatric endocrinologist, who con rmed the diagnosis with a
karyotype (45, XO pattern). The child and family received counsel-
ing and education, and the girl was treated with growth hormones
and has done well. Screening tests for renal and cardiac abnormalities
were normal.
INTRO DUCTIO N FIGURE 222-2 Low se t e ars, low hairline , mild p tosis, and small lowe r
jaw in the same 6-ye ar-old g irl in Fig ure 222-1. (Use d with p e rmission
Turner syndrome is an absence of one of the X chromosome (partial
or complete) with a resultant female phenotype of short stature, lack
of normal sexual maturation, and diverse somatic ndings.
EPIDEMIO LO GY
SYNO NYMS
abnormality.
Gonadal dysgenesis, Haploinsuf ciency of the X chromosome
(45, XO karyotype), Bonnevie-Ullrich syndrome, and monosomy X.
abortions, accounting for approximately 20 percent of the sponta-
neous abortions caused by chromosomal defects.
of affected fetuses survive to birth.
-
plete or partial absence of the second sex chromosome in a woman
(most common karyotype is 45, XO) or mosaicism (e.g., karyo-
DIAGNO SIS
The diagnosis of Turner syndrome is suspected on clinical features

FIGURE 222-1 Lymp he d e ma in the lowe r e xtre mitie s, which is e sp e - and con rmed by chromosomal analysis. Any girl with pathological
cially p romine nt o n the rig ht, in a 6-ye ar-old g irl with Turne r synd rome .
This was the p re se nting fe ature of this synd rome in this g irl. (Use d with short stature should have a karyotype performed to rule out Turner
p e rmission from Camille Sab e lla, MD.) syndrome. 2,3
PART 21
1280 CHAPTER 222
GENETIC DISO RDERS
FIGURE 222-3 Lymp he d e ma in a ne wb orn infant who was found to

have Turne r synd rome . Thirty p e rce nt of infants with Turne r synd rome
will have lymp he d e ma at b irth. (Use d with p e rmission from Cle ve land
CLINICAL FEATURES
excessive skin folds in the neck—Present in 30 percent of cases

(Figures 222-3 and 222-4). 4
2
FIGURE 222-5 Pro mine nt we b b ing of the ne ck in an ad ole sce nt with

Turne r synd rome . Also note the low se t e ars, low hairline , and mild p to-
but may occur later, including during adolescence (Figures 222-1, sis. (Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital
222-3, and 222-4). Photo File s.)
Figure 222-5).
Figures 222-6
and 222-7).
50 percent of patients.
hairline, ptosis, and hypertelorism (Figures 222-2 and 222-5).
FIGURE 222-4 Loose skin fold s and we b b ing of the ne ck in a ne wb orn FIGURE 222-6 Wid e sp ace d nip p le s and b road , shie ld -like che st, in
with Turne r synd rome . (Use d with p e rmission from Cle ve land Clinic the same g irl with Turne r synd rome in Fig ure 222-5. (Use d with p e r-
Child re n’s Hosp ital Photo File s.) mission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
PART 21
TURNER SYNDRO ME 1281
GENETIC DISO RDERS
-
ated with other features of Turner syndrome and associated with a
normal karyotype.
MANAGEMENT
NO NPHARMACO LO GIC
for hearing defects.
of the management.
FIGURE 222-7 Wid e -sp ace d nip p le s and loose skin fold s in the ne ck MEDICATIO NS
visib le in an infant with Turne r synd rome . (Use d with p e rmission from
Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
instituted in early childhood to maximize growth potential.
SO R
adolescence when follicle-stimulating hormone and luteinizing

aortic root, or coarctation of aorta (50%), especially if there is
presence of webbed neck. 5
growth. SO R
obstruction, idiopathic hypertension, and renal infections. achieve sexual maturity and to maximize bone development,
including the prevention of osteoporosis.
6
for hypothyroidism.
with advice on diet and exercise must be included to prevent

complications such as diabetes, osteoporosis, and hypertension.
SURGERY
LABO RATO RY TESTING eliminate the risk of malignancy in the streak gonad.
- may need surgical repair.

function.
REFERRAL
Turner syndrome.
geneticists, and nutritionists, is recommended for the management
IMAGING
of patients with Turner syndrome.
-
malities.

- there is a cystic hygroma or edema of the limbs.
villus sampling or amniocentesis.

PART 21
1282 CHAPTER 222
GENETIC DISO RDERS
PRO GNO SIS J Pediatr.
Congenit Heart Dis

therapy.
-
drome. J Pediatr
although pregnancy has been achieved with the use of assisted
-
drome Study Group. J Clin Endocrinol Metab
FO LLO W-UP -
hearing defects.
- growth hormone treatment allows age-appropriate estrogen use
ally or twice a year. in Turner’s syndrome. J Clin Endocrinol Metab
follicle-stimulating hormone and luteinizing hormone levels should treatment of early growth failure in toddlers with Turner syn-
J Clin Endocri-
nol Metab
recombinant human growth hormone in Turner syndrome. J Clin

Endocrinol Metab
PATIENT RESO URCES
www.turner- after, what can we tell our patients? J Clin Endocrinol Metab.
syndrome-us.org.
http:// www.geneticalliance.org. on pubertal hormone replacement options in the United States.

J Pediatr Endocrinol Metab
http:// ghr.nlm.nih.gov/ condition/ turner-syndrome. estrogen gel for induction of puberty in girls with Turner syn-
http:// rarediseases.info.nih.gov/ gard/ 7831/ drome. J Clin Endocrinol Metab
resources/ resources/ 1.
levels of estradiol that mimic those seen at the onset of spontane-

REFERENCES ous puberty in girls. J Clin Endocrinol Metab
Management of Genetic Syndromes hormone-de cient growth disorders. Endocrinol Metab Clin North
Am
- -
tal disorders. Pediatr Clin North Am.
Growth Study experience. Pediatrics
the diagnosis and management of Turner syndrome. J Clin Endo-
crinol Metab
MARFAN SYNDRO ME
FIGURE 223-2
Use d with p e rmission from Elumalai Ap p achi, MD.
FIGURE 223-4
Use d with p e rmis-

sio n fro m Rud olp h CD, Rud olp h AM, Liste r G, First LR, Ge rshon AA:
Rud olp h’s Pe d iatrics, 22nd e d ition. www.acce ssp e d iatrics.com. Fig ure
181-1B, Ne w York: McGraw-Hill.
~ ≥ ~
≥ < ≥
>
~ ≥
~ ≥ ≥ < <
~
~
~
~ ≥ ~
~
FIGURE 223-3 ~
Use d with
p e rmissio n fro m Elumalai Ap p achi, MD. ~
FIGURE 223-5 FIGURE 223-7
Use d with p e rmission from Rud olp h CD, Rud olp h AM, Liste r
Use d with p e rmission from G, First LR, Ge rshon AA: Rud olp h’s Pe d iatrics, 22nd e d ition. www.
Rud olp h CD, Rud olp h AM, Liste r G, First LR, Ge rshon AA: Rud olp h’s acce ssp e d iatrics.com. Fig ure 181-1 F, Ne w York: McGraw-Hill.
Pe d iatrics, 22nd e d ition. www.acce ssp e d iatrics.com. Fig ure 181-1C,
Ne w York: McGraw-Hill.
A B
FIGURE 223-6 Use d

with p e rmission from Rud olp h CD, Rud olp h AM, Liste r G, First LR, Ge rshon AA: Rud olp h’s Pe d iatrics, 22nd e d ition. www.acce ssp e d iatrics.com.
Fig ure 181-1 D and E, Ne w York: McGraw-Hill.
FIGURE 223-8
Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital FIGURE 223-9
Photo File s.
Use d with p e rmission from Cle ve land Clinic
Child re n’s Ho sp ital Photo File s.
>
~
FIGURE 223-10
Use d with p e rmission from David Dre is, MD, in
Rud olp h CD, Rud olp h AM, Liste r LE, First LR, Ge rshon AA: Rud olp h’s
Pe d iatrics, 22nd e d ition. www.acce ssp e d iatrics.com. Fig ure 181-1H,
Ne w York: McGraw-Hill.
~
PART 21
EHLERS–DANLO S SYNDRO MES 1289
GENETIC DISO RDERS
224 EHLERS–DANLO S
SYNDRO MES
PATIENT STO RY
A 12-year-old boy presents to his pediatrician with pain in his knees

while walking. On physical examination, he is noted to be short, has
hyperextensibility of the skin, and hypermobile joints (Figures
224-1 and 224-2). His mother mentions that there are family mem-
bers who have hypermobile joints, and who have had problems with
dislocation and sprains of their joints. The pediatrician makes a clinical
diagnosis of Ehlers-Danlos Syndrome and orders an echocardiogram,
which is normal. FIGURE 224-2 Hyp e rmob ility of the ng e rs in the same b oy with
Ehle rs-Danlos synd rome . (Use d with p e rmission from Richard P.
Usatine , MD.)
INTRO DUCTIO N
The Ehlers–Danlos syndromes (EDS) constitute a genetically hetero- biochemical criteria. 2

geneous group of conditions, characterized by fragility of the connec-
tive tissues, resulting in skin, ligament, joint, blood vessels, and vis-
~
ceral organ manifestations. The clinical spectrum ranges from mild
~
skin and joint hyperlaxity to severe physical disability and life-threat-
~
ening vascular complications.
for about 5 percent of cases of EDS. Not often diagnosed until
adulthood.
SYNO NYMS ~
Hereditary collagen dysplasia. ~
-
EPIDEMIO LO GY ciated with spontaneous rupture of medium and large-sized arteries
and hollow organs, especially the large intestine and uterus; vascular
one in 5,000 individuals. 1

except the kyphoscoliosis and dermatosparaxis types (recessive
-
ces of multiple tissues (skin, tendons, blood vessels, and viscera)
are common to all forms of EDS.
-
FIGURE 224-1 Hyp e re xte nsib ility of the skin in a b oy with p rove n
Ehle rs-Danlos synd rome . (Use d with p e rmission from Richard P.
Usatine , MD.)
PART 21
1290 CHAPTER 224
GENETIC DISO RDERS
RISK FACTO RS
DIAGNO SIS
been established for the six major types of EDS.

FIGURE 224-3 Hyp e re xte nsib ility of the skin (le ft) and atrop hic scarring
presence of one or more major criteria is highly indicative and of the kne e in a p atie nt with the classic form of Ehle rs-Danlos synd rome .
(Use d with p e rmission from Cle ve land Clinic Child re n’s Photo File s.)
prolapsed pelvic organ, premature arthritis, and cervical insuf-

establish a diagnosis.
Figure 224-1) should be tested at a site ~ Often presents with joint pain, joint dislocations, and inability to
not subjected to mechanical forces or scarring, and measured by walk. Skin manifestations are less prominent.
pulling up the skin until resistance is felt. ~
involvement (hyperextensibility and/ or smooth velvety skin).

~
~ >90° (one point if present, chronic joint and limb pain.

2 points if bilateral).
~ Passive exion of thumb to the forearm (one point if present, ~
2 points if bilateral). ~
~ Hyperextension of the elbow beyond 10° (one point if present, I Arterial, intestinal, or uterine fragility or rupture.
2 points if bilateral). I Easy bruising.
~ Hyperextension of the knee beyond 10° (one point if present,
2 points if bilateral).
~ Ability to place the palms on the oor with extension of the
knees (one point if present).
located in the same areas, and causing a brownish discoloration.
CLINICAL FEATURES
~ Skin hyperextensibility, widened atrophic scars (tissue fragility),

and joint hypermobility are the major criteria (Figures 224-1
to 224-3).
~ Dermatologic features predominate, although the range of these
manifestations varies greatly.
~
I Smooth, velvety skin.

I
scars (Figure 224-4).

I
shins or forearms. FIGURE 224-4 Small e shy p se ud otumor on the e lb ow of a g irl with
I Ehle rs-Danlos synd rome . The se re p re se nt calci e d he rniations of fat
throug h the d e rmis. (Use d with p e rmission from We inb e rg S, Prose NS,
I Easy bruising. Kristal L: Color Atlas of Pe d iatric De rmatolo g y, 4th e d ition: www.
I acce ssp e d iatrics.com. Fig ure 11-10. Ne w York: McGraw-Hill, 2009.)
PART 21
EHLERS–DANLO S SYNDRO MES 1291
GENETIC DISO RDERS
IMAGING
forearms corresponding to the subcutaneous spheroids.
prolapse and aortic dilatation.
blue sclerae and bone fractures of osteogenesis imperfecta help to

FIGURE 224-5 Acrog e ria (frag ile , thin, p re mature ly ag ing skin) in a
child with the vascular form of Ehle rs-Danlos synd rome . (Use d with
p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.) -
malities limited to the skin, although visceral organs may also be
involved rarely.
I Thin, translucent skin.
I the hypermobility form of EDS. The diagnostic criteria from hyper-
hollow cheeks, prominent staring eyes). mobility type of EDS can help in differentiating these.
I Occurs in <
~ Small joint hypermobility.

~ Gingival recession.
~ Spontaneous pneumothorax/ hemothorax. MANAGEMENT
~ Tendon or muscle rupture.
~ Early-onset varicose veins.
~ inheritance of their EDS.
~
-
~ Acrogeria (Figure 224-5).
patients early for management.

~
~ friability.
hypermobility, progressive scoliosis, and optic globe fragility. ~ Patients should be advised to avoid contact sports especially if
~ Vascular involvement, such as mitral valve prolapse and aortic they have cardiac problems.
root dilatation, has been described. ~ Elevated blood pressure should be aggressively treated with beta-
blockers, given the risk of arterial dissection.
~ -
~ Women with vascular EDS should be counseled about the risk of
rent subluxations, congenital hip dislocation, skin hyperextensi- uterine, intestinal, and arterial rupture. Pregnancy is associated
bility, and tissue fragility, including atrophic scars. with up to a 25 percent mortality rate; however, successful
childbirth is possible.
~
NO NPHARMACO LO GIC
skin, easy bruising, and large hernias.
Physical therapy to strengthen muscles is helpful.
LABO RATO RY TESTING MEDICATIO NS
-
may be performed to aid in the diagnosis of classic EDS. cially aortic root dilatation, is often prescribed. SO R
EDS. SURGERY
-
PART 21
1292 CHAPTER 224
GENETIC DISO RDERS
PATIENT RESO URCES

www.medicinenet.com/ ehlers-danlos_syndrome/
article.htm.
strength of the tissues, which makes the tissue less suitable for
surgery; the fragility of the blood vessels, which can cause problems
PMH0002439/ .
during surgery; and wound healing is often delayed or incomplete.
www.ednf.org.
immobilization.
www.pathology.washington.edu/ clinical/ collagen/
index.php/ disorders/ ehlers-danlos/ .
who have experience with EDS. Wound healing and rupture of vis-
ceral organs during surgery is a concern. www.ncbi.nlm.nih.gov/ books/ NBK1494/ .
manage surgically as the vessels are often friable and not amenable
to anastomosis.
REFERENCES
REFERRAL // ghr.nlm.nih.gov/ condition/ ehlers-danlos-syndrome.
vascular EDS.
-
apy as needed. Am J Med Genet.
PRO GNO SIS type. N Engl J Med.

N Engl J Med.
~
vascular Ehlers-Danlos syndrome. Perspect Vasc Surg Endovasc Ther.
complication by the age of 25 years; >
consist of arterial dissections. Vascular events typically occur

Ehlers-Danlos syndrome. Ped Dermatol.
BMJ
review. Br J Haematol
FO LLO W-UP Am J
Forensic Med Pathol
orthopedic surgery, general surgery, dermatology, and physiotherapy

as needed.
PART 21
O STEO GENESIS IMPERFECTA 1293
GENETIC DISO RDERS
225 O STEO GENESIS

IMPERFECTA
PATIENT STO RY
A newborn infant is being evaluated by the pediatrician in the hos-

pital. On physical exam, the infant is noted to have blue sclerae
and deformities in the legs (Figure 225-1). X-rays of the long
bones of the legs reveal multiple fractures (Figure 225-2). Prena-
tal ultrasound screening in the second trimester showed bowing of
long bones, fractures, and shortened limbs, suspicious for osteo-
FIGURE 225-2 Multip le fracture s p re se nt at b irth in a ne wb orn with
genesis imperfecta (OI). The infant is treated with supportive care oste og e ne sis imp e rfe cta. (Use d with p e rmission from Cle ve land Clinic
and a referral to genetics and orthopedics is made. The diagnosis Child re n’s Ho sp ital Photo File s.)
of OI is formally established by identifying mutations in type 1
collagen.
EPIDEMIO LO GY
INTRO DUCTIO N -
Osteogenesis imperfecta (OI) is a genetic disorder characterized by 1
fragility of the skeletal system, and resulting in frequent fractures.
The four major types of OI are caused by structural or quantitative
defects in type 1 collagen, which is the primary component of the
extracellular matrix of bone and skin protein.
very rare.
SYNO NYMS
Brittle bone disease (type 1 OI), Osteogenesis imperfecta congenita

(type 3 OI).
predominantly in ethnic groups with consanguineous marriages.
other less-well characterized genes.
helical glycine residues or crucial residues in the C-propeptide

by other amino acids.
FIGURE 225-1 Blue scle rae and le g d e formitie s in a 3-d ay-old infant
with oste og e ne sis imp e rfe cta. The d iag nosis was susp e cte d b e fore
b irth b ase d on b ony ab normalitie s se e n d uring p re natal ultrasound mutations in one α 1(I) allele leading to a reduced amount of
imag ing . (Use d with p e rmission from Be tsy Tap ani.) normal collagen. 3
PART 21
1294 CHAPTER 225
GENETIC DISO RDERS
abnormal. The bone matrix contains abnormal type I collagen
RISK FACTO RS
DIAGNO SIS
CLINICAL FEATURES
features of OI (Figure 225-1).

FIGURE 225-3 Blue scle rae , macroce p haly, and triang ular facie s in a
- 10-month-old infant with oste og e ne sis imp e rfe cta typ e 3. (Use d with
tures with minimal trauma, and easy bruisability. p e rmission from Be tsy Tap ani.)
bowing of long bones, fractures, shortened limbs, and other bone I Nonlethal form but patients have severe physical disability.
abnormalities. I Usually presents in the newborn period with multiple fractures.
I Infants have low birth weight and in utero fractures are common.
I There is relative macrocephaly, triangular facies and blue
sclera (Figure 225-3).
I Postnatally, fractures occur from inconsequential trauma and
heal with deformity.
~ Osteogenesis Imperfecta Type 1 (Mild). I
IMajor features include blue sclerae, recurrent fractures in appearance at the metaphyses.
I The rib cage has aring at the base and pectal deformity is
frequent.
I - I Almost all patients have scoliosis and vertebral compression.
mon at birth, and decrease after puberty. I Pulmonary function can be affected due to associated scoliosis.
I I Figure 225-4).
I Short stature, compared with family members, may or may ~
not be present. I
I I In utero fractures can occur.

~ I Bowing of the tibia is the hallmark of this type of OI and can
I Most severe form of OI. occur even without fractures.
I Lethal in utero or in the majority of newborns because of I Children require orthopedic and rehabilitation intervention, but
they are usually able to attain community ambulation skills.
I I
I Multiple intrauterine fractures of long bones are evident, osteoporotic and have metaphyseal aring and vertebral
which have a crumpled appearance on radiographs. compressions.
I Limbs are short and bowed, and legs are held abducted at right IShort stature is common, like in other types of OI.
angles to the body creating a frog-leg position. ~ Osteogenesis Imperfecta Type 5 (Hyperplastic Callus) and
I Multiple rib fractures create a beaded appearance and the small
I
I A large, soft skull and open fontanelles are common.

PART 21
GENETIC DISO RDERS
the interosseous membrane of the forearm, and a radiodense

metaphyseal band.
I The absence of a collagen defect supports the distinct group-
I Caused by null mutations in proteins involved in posttransla-
including white sclerae, rhizomelia, and small to normal head
most proximal segment of the limbs (upper arms and thighs).

I Surviving children have severe osteochondrodysplasia with
extreme short stature.
mutations.
IMAGING
deformities (Figures 225-2 and 225-5).
FIGURE 225-4 Hap p y 2-ye ar-old b oy with oste og e ne sis imp e rfe cta DIFFERENTIAL DIAGNO SIS
typ e 3. His me asure d he ig ht is we ll b e low the normal for his ag e . He
succe ssfully use s a whe e lchair for mob ility. He is g re atly love d b y his
family. (Use d with p e rmission from Be tsy Tap ani.) -
A B
FIGURE 225-5 Se ve re d e formitie s and multip le fracture s o f the long b one s in a child with oste og e ne sis imp e rfe cta b e fore the ad ve nt of b isp hos-
p honate the rap y. A. Arms. B. Le g s. (Use d with p e rmission from Cle ve land Clinic Child re n’s Hosp ital Photo File s.)
PART 21
1296 CHAPTER 225
GENETIC DISO RDERS
other evidence of nonaccidental trauma (retinal hemorrhage, intra-

cranial hemorrhage) can help in distinguishing these entities from
-
guished from OI based on history, characteristic investigations
(elevated alkaline phosphatase and parathyroid hormone levels).
Typical radiologic features are also helpful in distinguishing these
MANAGEMENT
muscle strength.
FIGURE 225-7 Le g b owing and me tap hyse al b and s in an 8-month-old
NO NPHARMACO LO GIC child with oste og e ne sis imp e rfe cta und e rg oing p amid ronate the rap y
to p re ve nt frag ility fracture s. This child re ce ive d many cycle s of p ami-
d ronate , re sulting in me tap hyse al b and s, known as “ze b ra line s.”
and muscle strength development is critical (Figure 225-6). (Use d with p e rmission from Be tsy Tap ani.)
social integration, and educational achievement. MEDICATIO NS

-
tions of other forms, to reduce the incidence of fractures and
improve bone quality.
loss and for neurological, and cardiorespiratory complications. result in improvement in clinical symptoms (less pain), increased
mobility, and reduction in fracture frequency in children with OI. 5–7
produce an interesting pattern on radiographs (Figure 225-7).

-
is unclear whether either treatment decreases fractures.
investigation. 9
SURGERY
by insertion of a metal rod is recommended to control repeated

fractures and to improve bone deformities that interfere with
function (Figure 225-8).
may be required.
REFERRAL
better classify the type of OI, and for genetic counseling.
depending on the clinical spectrum of involvement and the severity

FIGURE 225-6 A 3-ye ar-8-month-old b oy with oste og e ne sis imp e r-
fe cta is using a sp e cial d e vice as p art of his home p hysical the rap y to
imp rove his motor function and b alance . (Use d with p e rmission from
Be tsy Tap ani.) and for monitoring and screening.
PART 21
GENETIC DISO RDERS
PATIENT RESO URCES

www.oif.org.
www.osteo.org.
www.osteogenesisimperfecta.org.

ACKNO WLEDGEMENT
We greatly thank Betsy Tapani for the photographs and radiographs of
her son with osteogenesis imperfecta (Figures 225-1, 225-3, 225-4,
225-6 to 225-8). One can learn more about their family story at
// www.oif.org/ site/ PageServer?pagename=meetbrennan.
Betsy and her family and she is committed to giving to those parents
who face similar challenges.
REFERENCES
Adv Pediatr
FIGURE 225-8 A me tal ro d has b e e n inse rte d into the hume rus o f a -
2-ye ar-old b oy with oste og e ne sis imp e rfe cta to control re p e ate d
fracture s and to imp rove b one d e formitie s that inte rfe re with function. J Bone
(Use d with p e rmission from Be tsy Tap ani.) Miner Res
cartilage-associated protein in recessive lethal osteogenesis

imperfecta. N Engl J Med
medical treatment. Am J Med Genet
forms of osteogenesis imperfecta in children. J Pediatr Endocrinol

or collagen mutations. Metab.
pamidronate treatment of children under 36 months of age with

PRO GNO SIS osteogenesis imperfecta. Bone
with osteogenesis imperfecta. J Pediatr Orthop B

upon the type of OI and severity of symptoms. In general, the
for osteogenesis imperfect. Cochrane database syst Rev
stem cells from individuals with osteogenesis imperfecta. Science.

concurrent problems such as respiratory infection and skull
fractures.
and correction of deformity in the lower limbs of children with
osteogenesis imperfecta. J Bone Joint Surg Br
FO LLO W-UP
11. Wilkinson JM, Scott BW, Clarke AM, Belle MJ. Surgical stabilisa-
tion of the lower limb in osteogenesis imperfecta using the Shef-
J Bone Joint Surg Br.
PART 21
1298 CHAPTER 226
GENETIC DISO RDERS
226 NO O NAN SYNDRO ME heart disease, renal anomalies, lymphatic malformations, and bleed-
ing dif culties. Mutations that cause Noonan syndrome alter genes
Elumalai Ap p achi, MD, MRCP encoding proteins with roles in the RAS–MAPK pathway, leading to
pathway dysregulation.
A 3-year-old boy is brought to see his pediatrician for a health main- Male Turner syndrome.
tenance visit. During the exam, the pediatrician notes that the child’s
face lacks expression, has a short neck with excessive skin, a low hair-
line, low set ears, and a short broad nose (Figure 226-1). The child EPIDEMIO LO GY
is appropriate for weight but his height is well below the third per-
centile. An audible systolic ejection murmur is heard. The pediatri-
cian refers the child to a pediatric cardiologist who makes the diagno- with pulmonary stenosis, short stature, chest deformities, and mild
sis of pulmonic stenosis from physical exam and echocardiogram. developmental delay. 1,2
Based on these ndings, the pediatrician and cardiologist make a clini- 2
cal diagnosis of Noonan syndrome, which is con rmed by genetic
testing. A multidisciplinary approach to the child’s care is planned.
Turner syndrome phenotype, it is now recognized in females as
well.
INTRO DUCTIO N -
able expressivity.
Noonan syndrome is an autosomal dominant, variably expressed,
multisystem disorder characterized by distinctive facial features,
developmental delay, learning dif culties, short stature, congenital syndromic cause of congenital heart disease.
syndrome or closely related conditions (PTPN11, SOS1, KRAS,

NRAS, RAF1, BRAF, SHOC2, and CBL).
signal transduction pathway through which extracellular ligands—

such as some growth factors, cytokines, and hormones—stimulate
cell proliferation, differentiation, survival, and metabolism.
PTPN11, which encodes the protein SHP2. Because

SHP2 has essential roles in signal transduction pathways that con-
trol several developmental processes, including cardiac semilunar
valvulogenesis, PTPN11 was deemed an excellent candidate gene.
caused by missense, gain of-function mutations in PTPN11.
RISK FACTO RS
FIGURE 226-1 Distinctive facial fe ature s, includ ing a short ne ck with

e xce ssive skin, a low hairline , low se t e ars, and a short b ro ad nose , in a
b oy with Noonan synd rome . This child also has hyp e rte lorism (wid e ly DIAGNO SIS
sp ace d e ye s). The lack of facial e xp re ssion re se mb ling a myop athy has
also b e e n d e scrib e d in the se p atie nts. (Use d with p e rmission from
Cle ve land Clinic Child re n’s Hosp ital Photo File s.) Diagnosis is made from the key clinical features and genetic testing.
PART 21
NO O NAN SYNDRO ME 1299
GENETIC DISO RDERS
growth hormone resistance. Mean age at puberty is delayed com-

pared to general population.
can lead to failure to thrive. Poor suck, prolonged feeding time, or
infants need to be fed by tube for 2 weeks or longer. Gastroesopha-

geal re ux is also common.
unilateral or bilateral cryptorchidism. Male gonadal dysfunction has

been reported and is suggested to be caused by primary Sertoli cell
dysfunction rather than cryptorchidism.
deformity (superior pectus carinatum and inferior pectus excava-

FIGURE 226-2 Hyp e rte lorism, p ointe d chin, acce ntuation of skin we b - tum), widely spaced nipples, cubitus valgus, and genu valgum have
b ing in the ne ck and p romine nce of the trap e zius muscle in an ad ole s- also been reported.
ce nt b oy with Noonan synd rome . (Use d with p e rmission from Cle ve -
land Clinic Child re n’s Hosp ital Photo File s.)
monocytosis, thrombocytopenia, and myeloproliferative disorders,
have been seen, the most common hematologic disorders are
CLINICAL FEATURES abnormalities of bleeding caused by coagulation defects. Hemato-
logical cancers, including juvenile myelomonocytic leukemia, acute
diagnosis of Noonan syndrome. Wide-spaced and prominent eyes, myelogenous leukemia, and B-cell acute lymphoblastic leukemia
epicanthal folds, ptosis, and down-slanting palpebral ssures are have been reported.
common. Other features include hypertelorism (widely spaced eyes),
low set posteriorly rotated ears, distinctive upper lip, short neck with -
excessive skin, and low posterior hairline (Figure 226-1).2 stantial morbidity. Peripheral lymphedema can occur in infants and
resolves in the rst few years of life or it can develop in adolescence
wide at the forehead and tapered to a pointed chin. The eyes or adulthood.
become less prominent, the neck is longer, and there is accentua-
tion of skin webbing or prominence of the trapezius muscle
(Figures 226-2 and 226-3).
most common are pulmonary stenosis (often with dysplastic valves;

structural abnormalities, including temporal bone abnormalities,
have been reported.
have growth hormone de ciency, neurosecretory dysfunction, and disease than in the general population and, when present, are
associated with a high risk of reading and spelling dif culties.
-
acteristic eye nding including strabismus, refractive errors,
amblyopia, or nystagmus. 2/ 3 of patients develop anterior cham-
optic head drusen, optic disk hypoplasia, colobomas, and myelin-
nevi, café-au-lait spots, and lentigines. Keratosis pilaris of the

upper arms and face is common and can impede hair and eyebrow
growth. Hair is often thick and curly, although thin, sparse hair has
also been reported.
which enables the simultaneous assessment of all genes related to

FIGURE 226-3 Promine nce of the trap e zius muscle and we b b e d ne ck
in the same b oy as in Fig ure 226-2. (Use d with p e rmission from Cle ve - diseases caused by changes in RAS, has reduced the cost compared
land Clinic Child re n’s Hosp ital Photo File s.)
PART 21
1300 CHAPTER 226
GENETIC DISO RDERS
can con rm the diagnosis but negative testing cannot exclude the -
diagnosis. ing an electrocardiogram and echocardiogram.
partial thromboplastin should be obtained at the time of diagnosis

failure and delayed puberty should be referred to a pediatric
in infancy. endocrinologist.
IMAGING
prior to surgical procedures.

time of diagnosis.
diagnosis.
MEDICATIO NS
hormone therapy. 11 SO R
-
- roidism.
nes, electrocardiogram abnormalities, hypertelorism, pulmonary
stenosis, abnormal genitalia, retardation of growth, and deafness. delay.
mainly caused by PTPN11 missense mutations and, less often, by SURGERY
-
tal anomalies and intellectual disability, failure to thrive and short
stature, congenital heart defects, and a characteristic facial appear- REFERRAL
ance. Patients have a rounder, more bulbous nasal tip, wider nasal
base, fuller lips, and coarser facial features. They also often have
follicular hyperkeratosis, sparse eyebrows and lashes, and ichthyosis
-
lectual disability. Molecular gene testing will distinguish this from in girls by the age of 13 years or no testicular enlargement in boys
Noonan syndrome. -
gist.
growth, developmental delay, coarse facial features, wide nasal
bridge, loose and soft skin, increased pigmentation over time, deep dif culties/ recurrent vomiting.
palmar and plantar creases, facial or perianal papillomata, premature
ageing and hair loss, moderate intellectual disability, exion or ulnar hematology consultation as needed for management of bleeding
deviation of the wrist and ngers, and cardiac abnormalities (most risk.
commonly pulmonic stenosis and hypertrophic cardiomyopathy).
helps in the diagnosis. Patients typically have left-sided heart lesions PREVENTIO N AND SCREENING
(compared with right-sided lesions in Noonan syndrome), have no or
arrested pubertal development, and have gonadal dysgenesis.
- suggestive of Noonan syndrome. 12
-
tions. These patients do not have congenital heart disease and affected
boys have a shawl scrotum (scrotum surrounds the penis like a shawl). PRO GNO SIS
MANAGEMENT
FO LLO W-UP
care of these patients is essential.
NO NPHARMACO LO GIC needed to address the medical and developmental complications of

Noonan syndrome.
PART 21
NO O NAN SYNDRO ME 1301
GENETIC DISO RDERS
PATIENT RESO URCES PTPN11,

encoding the protein tyrosine phosphatase SHP-2, cause Noonan
www.teamnoonan.org.
syndrome. Nat Genet.
http:/ / www.teamnoonan.org/ information/ .
Growth Genet Horm
www.teamrasopathies.org.
-
http:// pediatrics.aappublications.org/ Arch Dis Child
content/ 126/ 4/ 746.full.pdf+html.
http:/ / www.teamnoonan.org/ information/ .
expanded cardiac spectrum with high prevalence of atrioventricu-
lar canal. J Pediatr.
REFERENCES of Noonan syndrome. Arch Dis Child
in children with congenital heart disease. J Pediatr. syndrome. J Med Genet

Pediatr Rev
Pediatrics. Growth Study experience. J Pediatr.

PTPN11 analysis for the prenatal
mutations cause Noonan syndrome. Nat Genet diagnosis of Noonan syndrome in fetuses with abnormal ultra-
sound ndings. Clin Genet .
CHAPTER 227
PHACE SYNDRO ME
Joan Tamb urro, DO
Allison Vid imos, MD
Hyp o p lasia o f the rig ht ce re b e llum and sup e rio r

d isp lace me nt of the hyp op lastic rig ht he misp he re d ue to an arachnoid
cyst o n MRI b rain in a p atie nt with PHACE synd ro me . (Use d with
p e rmission from Carla Torre s-Ze g arra, MD.)
Le ft inte rnal carotid hyp op lasia (b lue arrow) and d up li-

cate d rig ht ve rte b ral arte ry (re d arrow) with marke d hyp op lasia on MRA
of the b rain in a p atie nt with PHACE synd rome . (Use d with p e rmission
from Carla Torre s-Ze g arra, MD.)
PHACE SYNDRO ME
A B
Multip le facial he mang iomas and microp hthalmia of the rig ht e ye in a 2.5-ye ar-old g irl with PHACE synd rome . A hyp e rtrop hic
scar is e vid e nt at the site of lase r the rap y for he r lip he mang ioma. (Use d with p e rmission from Carla Torre s-Ze g arra, MD.)
A B
Re sid ual he mang ioma on the arm ( ) and a ste rnal p it ( ), re p re se nting e vid e nce of a ve ntral d e ve lop me ntal d e fe ct, of the 2.5-ye ar-
old g irl in . (Use d with p e rmission from Carla Torre s-Ze g arra, MD.)
CHAPTER 227
Larg e se g me ntal he mang ioma on the face of a

5-month-old g irl with PHACE synd rome b e fore onse t of p rop ranolol
the rap y. (Use d with p e rmission from Ang e lPHACE.com.)
~
PHACE SYNDRO ME
Pro g re ssio n o f a larg e se g me ntal he ma ng io ma in

an infant with PHACE synd ro m e . (Use d with p e rm issio n fro m
Ang e lPHACE.co m.)
This infant g irl from has a colob oma

(hole ) of the corne a of the rig ht e ye . While she can d e te ct some lig ht
she d oe s not have use ful vision in that e ye . (Use d with p e rmission from
Ang e lPHACE.com.)
Diffe re nce s in Fe ature s Be twe e n PHACE Synd rome and Sturg e -We b e r Synd rome
He mang ioma Port-wine stain

Anomalous arte rie s Le p tome ning e al vascular malformation
Dand y-Walke r comp le x, p oste rior fossa Usually none
malformations, ce re b e llar hyp op lasia
Microp hthalmia, op tic ne rve hyp op lasia, Glaucoma, ↑ re tinal vascularity,
cataracts, ↑ re tinal vascularity, colob oma b up hthalmos
CHAPTER 227
Re g re ssion of a larg e se g me ntal he mang ioma in an infant with PHACE synd rome afte r ne arly 11 months of p rop ranolol the rap y. Ini-
tially p re d nisolone was b e ing use d simultane ously b ut that was stop p e d ap p roximate ly halfway throug h the tre atme nt with the p rop ranolol. Note
the p re se nce of a colo b oma of the rig ht e ye . (Use d with p e rmission from Ang e lPHACE.com.)
~
Am J
Med Genet A
to
Arch Dermatol
Am J Med Genet
Pediatr Dermatol
J Am Acad Dermatol.
Arch Dermatol
Pediatrics
PART 21
1308 CHAPTER 228
GENETIC DISO RDERS
2 2 8 INCO NTINENTIA including cutaneous tissue, teeth, eyes and the central nervous
PIGMENTI system (CNS), amongst other organs. 1

Elumalai Ap p achi, MD, MRCP SYNO NYMS
Bloch-Sulzberger syndrome.
PATIENT STO RY
A 6-day-old girl is brought by her parents to the emergency depart-

EPIDEMIO LO GY
ment for a rash on her arms and chest. The parents noted that over 1
the past 3 days, the baby has had intermittent episodes of right eye
deviation and upper extremity stiffening. These episodes lasted Caucasians than other ethnicities.
approximately 30 seconds, occurred approximately 3 times per day
and were associated with cyanosis. The family history was notable for usually do not survive, and therefore over 97 percent of living
seizures in a maternal aunt. On physical examination the infant was affected individuals are female.
quiet, seemingly withdrawn with stable vital signs. The infant had
erythematous papules and vesicles, some of which had eroded with phenotype within a few months of birth. 2
crusting on the arms and anterior chest (Figure 228-1). A direct
uorescent antibody test and culture from the lesions were negative
for herpes simplex virus. Skin biopsy of the lesions showed spongiotic ETIO LO GY AND PATHO PHYSIO LO GY
dermatitis with many eosinophils and large dyskeratotic cells. Based
on the skin lesions and the neurological manifestations, the infant was
diagnosed with incontinentia pigmenti. Genetic, neurologic, and
ophthalmology consults were obtained.
the function of various chemokines, cytokines, and adhesion
molecules, and is essential for protection against tumor necrosis
INTRO DUCTIO N factor induced apoptosis, in ammatory, and immune response3.
the body can overexpress chemotactic factors speci c for eosinophils,

usually lethal in males, and characterized by skin involvement
presents in the neonatal period.

factors, lead to extensive in ammation, affecting not only the skin,
but also endothelial cells.
results in ischemia, causing both the retinal and neurologic manifes-
RISK FACTO RS
DIAGNO SIS
CLINICAL FEATURES
FIGURE 2 2 8 -1 Pap ular and ve sicula r le sio ns, ma ny o f which ~ Stage 1—Erythematous papules and vesicles (Bullous stage) that
are hyp e rke rato tic, o n the up p e r e xtre mitie s and trunk o f a ne o nate
with inco ntine ntia p ig m e nti. (Use d with p e rmissio n fro m Ca mille appear in crops in linear streaks along the lines of Blaschko (lines
Sa b e lla , MD.) along which skin and appendages, such as hair, melanocytes, and
PART 21
INCO NTINENTIA PIGMENTI 1309
GENETIC DISO RDERS
A B
FIGURE 228-2 Erythematous papules and vesicles in a linear pattern in an infant with incontinentia pigmenti (A) and on close-up view (B). Hyperkeratotic
papules and plaques are also evident. (Used with permission from Eric Kraus, MD.)
eccrine glands migrate during embryogenesis; Figures 228-2 to ~ Dental abnormalities (i.e., adontia or conical deformities of the teeth).
228-4 ~ Ocular problems (strabismus, cataracts, and retinal vascular
period. Each crop typically lasts 1 to 2 weeks. changes leading to blindness).
~ Stage 2—“Verrucous stage” that consists of hyperkeratotic warty ~ Neurologic abnormalities (seizures, intellectual disability, mental
papules or plaques in linear or swirling patterns (Figures 228-1 retardation, and spastic paralysis).
and 228-2). This stage usually last weeks to months. ~ Structural malformations (less frequently).
~ Stage 3—Streaks of hyperpigmentation develop in a “marble
cake” or swirled pattern typically occuring at 3 to 6 months of 5
The criteria focus on whether or not the suspected
age, often begins to fade in adolescents, but can persist into
adulthood (Figure 228-5).
~
~ History or evidence of typical skin lesions.
streaks become hypopigmented and atrophic. ~
~ Dental anomalies.
utero. Additional cutaneous changes include patchy alopecia, ~ Retinal disease.
woolly-hair nevus, and nail dystrophy. ~
criteria are separated into major and minor categories.
A B
FIGURE 228-3 Crop s of ve sicular and cruste d le sions on the up p e r e xtre mity and che st of the same infant as in Fig ure 228-2 (A) and on close -up
vie w (B). Note the line ar d istrib ution of the le sio ns on the lowe r arm. (Use d with p e rmission from Eric Kraus, MD.)
PART 21
1310 CHAPTER 228
GENETIC DISO RDERS
A B
FIGURE 228-4 Line ar e rythe matous p ap ule s and ve sicle s in the same infant (A). Note the ve sicular and crusting ap p e arance of some of the le sions
on the close -up vie w (B). (Use d with p e rmission from Eric Kraus, MD.)
adulthood.
I Erythematous lesions followed by vesicles anywhere
on the body (sparing the face), usually in a linear
distribution.
I Hyperpigmented streaks and whorls respecting Blaschko lines,
occurring mainly on the trunk and sparing the face, fading in
adolescence.
I
I Hypodontia or anodontia (partial or complete absence

of teeth), microdontia (small teeth), or abnormally shaped
teeth.
I Alopecia, wiry coarse hair.
I
I Retinal abnormalities.
none of the minor criteria are present, then a diagnosis other than
spongiotic dermatitis with many eosinophils and large dyskeratotic

cells during the vesicular stage.
2,3
of affected patients.
IMAGING
brain. FIGURE 228-5 Hyp e rp ig me ntation p laq ue s in a “marb le cake ” p atte rn

in an infant with Incontine ntia p ig me nti. (Use d with p e rmission from
Cle ve land Clinic Child re n’s Photo File s.)
PART 21
INCO NTINENTIA PIGMENTI 1311
GENETIC DISO RDERS
A B
FIGURE 228-6 Bullous mastocytosis in a 9-mo nth-old infant p re se nting with whe als, b ullae , and crusts on the (A) b ack and (B) scalp . (Use d with
DIFFERENTIAL DIAGNO SIS paralysis may be controlled with medication and/ or medical
devices, and with the advice of a neurologist.
-
or papular rash usually appearing at 2 days of life (see Chapter 92,
tal delay.
Normal Skin Changes [newborn]).
REFERRAL
base often appearing in crops. Needs to be excluded in any infant
who has vesicular lesions by direct testing of the lesions for the virus neurologic, and dental consultations should be obtained upon diagnosis.
Urticaria and Angioedema). They may also get bullous mastocytosis,

Figure 228-6). A and genetic testing of the mother is warranted.
biopsy can differentiate between these 2 diagnoses.
6
hyperpigmented, macules arranged in sharply demarcated whorls,

streaks, and patches over the body, extremities (Figure 228-7) and
face that follow the lines of Blaschko. There are no papules, vesicles or
MANAGEMENT
currently available; management is aimed at managing the presenting

signs and symptoms.
or excessive scarring.
adulthood without treatment.

FIGURE 228-7 Hyp ome lanosis of Ito in a 2-month-old infant showing
line ar and who rle d hyp op ig me ntation from the b uttocks d own to the
or, in severe cases, surgery. foot. The se are as of hyp op ig me ntation e xte nd up the trunk and d own
the arm on the same sid e of the b od y. The y follow Blaschko line s.
PART 21
1312 CHAPTER 228
GENETIC DISO RDERS
PATIENT RESO URCES

www.ipif.org.
meaning that an affected mother has a near 33 percent probability
of giving birth to either an affected female, unaffected female, or
unaffected male. www.ninds.nih.gov/ disorders/ incontinentia_pigmenti/
incontinentia_pigmenti.htm# What_is_the_prognosis.

than 1 percent. 7
http:/ / emedicine.medscape.com/ article/ 1114205.
via DNA analysis obtained by amniocentesis or chorionic villus http:/ / archderm.jamanetwork.com/ article
sampling. .aspx?articleid= 479497.
PRO GNO SIS REFERENCES
seven case reports from one family. British Journal of Ophthalmology.

disappear completely, the prognosis is dependent upon residual
neurological impairment.
update on the molecular basis of pathophysiology. J Am Acad Dermatol.
Journal of Medical
Case Reports.
FO LLO W-UP
Arch Dermatol
syndrome). J Med Genet
PATIENT EDUCATIO N Child Abuse Pediatrics
genetic counseling should be provided for all affected families.

PART 22
SUBSTANCE ABUSE
St re ng t h o f
(SO R) De nit io n

PART 22
1314 CHAPTER 229
SUBSTANCE ABUSE
229 SUBSTANCE ABUSE

DISO RDER
Ke lli He jl Foulkrod , MS
PATIENT STO RY
A young mother and her four children are being seen in a free clinic
within a homeless shelter for various health reasons (Figure 229-1).
The woman is currently clean and sober, but has a long history of
cocaine use and addiction (Figure 229-2). Her children span the ages
of 3 months to 5 years. She was recently living with her mother after
FIGURE 229-2 Puri e d cocaine . (Use d with p e rmission from DEA.)
the birth of her youngest child, but was kicked out of her mother’s
home when she began to use cocaine once again. The patient gave
written consent to the photograph and when she was shown the These genes differ in their susceptibility to environmental conditions,
image on the digital camera she noted how depressed she looked. She which trigger the changes in brain circuitry, and contribute to the
asked for us to tell the viewers of this photograph that these can be development of addiction. Addiction must be recognized and treated
the consequences of drug abuse—being depressed, homeless, and a as a chronic illness with an interprofessional team and social support.
single mom. Only time will reveal the effect of this situation on her
four children. They are at risk for so many problems including
neglect, abuse, behavioral issues and being placed in foster care. They EPIDEMIO LO GY
are also at higher risk of developing substance abuse disorder. Being
the health care provider for these children requires understanding the
disease of addiction and the consequences of this on the family.
percent of the population in that age range. In addition, 58.3 million
INTRO DUCTIO N -
Addiction occurs when substance use has altered brain function to an

extent that an individual loses a degree of control over his or her
behaviors. Addiction is an epigenetic phenomenon. Many genes in u- the population in that age range.
ence the brain functions that affect behavior and genetic variants.
users; Figures 229-3 and 229-4
FIGURE 229-1 A cocaine -ad d icte d mothe r with he r child re n in a

home le ss she lte r. He r d rug ad d iction re sulte d in the ir home le ssne ss. FIGURE 229-3 Home -g rown marijuana p lant. (Use d with p e rmission
(Use d with p e rmission from Richard P. Usatine , MD.) from DEA.)
PART 22
SUBSTANCE ABUSE DISO RDER 1315
SUBSTANCE ABUSE
FIGURE 229-4 Marijuana re ad y to b e smoke d . (Use d with p e rmission

from DEA.)
FIGURE 229-6 Ecstasy tab le ts use d at rave s whe re p e op le d ance all
nig ht long and some collap se in d e hyd ration. (Use d with p e rmission
from DEA.)
the pain relievers from a drug dealer or other stranger, and only
ASSO CIATIO N WITH CIGARETTE

Figure 229-5). AND ALCO HO L USE
Figure 229-6).
Figure -
229-7).
were heavy drinkers (i.e., drank 5 or more drinks on the same
FIGURE 229-5 Me thamp he tamine ice with p ip e . (Use d with p e rmis- FIGURE 229-7 Black tar he roin for inje ction. (Use d with p e rmission
sion from DEA.) from DEA.)
PART 22
1316 CHAPTER 229
SUBSTANCE ABUSE
occasion [i.e., at the same time or within a couple of hours] on each ~
of 5 or more days in the past 30 days), 70.6 percent were also cur- ~
rent illicit drug users, which was higher than among nondrinkers
(5.1%). 1 ~
ETIO LO GY AND PATHO PHYSIO LO GY RISK FACTO RS
2 DIAGNO SIS
-
6
-
3
-
tion of reward and emotion. 3
a 12-month period:
-
than was intended.
γ or control alcohol use.
serotonergic transmission. 4
response to alcohol are associated with single-nucleotide poly-
chromosome 5q. 5
effects of alcohol.
depression and symptoms of pain.

8. Recurrent alcohol use in situations in which it is physically
hazardous.
-
one use. 2
addiction include:
~
~
amount of alcohol.
~
-
~
PART 22
SUBSTANCE ABUSE DISO RDER 1317
SUBSTANCE ABUSE
Severity is graded based on the number of symptoms present:

MANAGEMENT
Mild:
Moderate:
Severe:
~ Compulsion to use.
~ Lack of Control.
CLINICAL FEATURES VISIBLE WITH
~ Continued use despite adverse consequences.
SUBSTANCE ABUSE
As”—Ask, Advise, Assess, Assist, and Arrange—to help
~ smokers who are willing to quit. This model can be applied to any
respiratory rate, pulse, and body temperature. substance of abuse.
~
pulse, and body temperature. Opioids produce pinpoint pupils. smoking.

Alcohol intoxication produces dilated pupils. questionnaire when asking about alcohol use:
~
~ ut down (Have you ever felt you should cut down on your
- drinking?).
stance used. Alcohol withdrawal is one of the most deadly and ~ Annoyed (Have people annoyed you by criticizing your drinking?).
dangerous types of withdrawal. ~ Guilty (Have you ever felt bad or guilty about your drinking?).
~
to steady your nerves or get rid of a hangover?).
Interpreting the results: one positive suggests at risk, two positives
suggest abuse, and three or four positives suggest dependence. This is
are at high risk for sexually transmitted infections (STIs) and should
be tested. millions of people worldwide.
not admitted to in the history. Most laboratories can differentiate -

prescription from nonprescription drugs (i.e., opiates) upon -
request. Substances have different physiologic half-lives in the body tion before starting the program. There are residential treatment
units, outpatient programs, and ongoing self-help programs. Learn
about the programs in your community and work with them.
after its use. Other substances may last for only days.
As.” Is the patient:
~ Receiving adequate Analgesia?
DIFFERENTIAL DIAGNO SIS ~ Activities of daily life?
~ Adverse effects?
Substance abuse disorders coexist with and complicate the course and ~ Aberrant medication-taking behaviors that may
treatment of numerous psychiatric conditions.
be linked to addiction?8
consider the following:

with addictions can develop the symptoms of these disorders from ~ They may have an addiction.
the drugs of abuse. However, mood and anxiety disorders can pre- ~ They may not be getting adequate pain relief taking the drug as
date the use of drugs, and some of the motivation for drug use can prescribed.
stem from the desire to self-treat these psychological conditions. It ~ They may have a comorbid mental illness.
is best to evaluate persons when they are off the drugs whenever ~ They may intend to distribute pain medications illegally.
possible.
paranoia, if these symptoms persist after the drugs are stopped for
some time, consider schizophrenia and other causes of psychosis.
will have a higher chance of succeeding to help your patients over-

that can coexist and be confused with substance abuse disorder. A
come addiction.
person in the midst of their addiction may appear to have an antiso-
cial personality disorder when committing crimes to get money for -
expensive drugs. It is best to not use this diagnosis unless the stand the physiologic basis of addiction and will ultimately provide
behaviors continue when the person is off the drugs. us with better treatments for the medical disease of addiction.
PART 22
1318 CHAPTER 229
SUBSTANCE ABUSE
PERSO NS IN RECO VERY PRO VIDER RESO URCES

Medical Conse-
quences of Drug Abuse—www.nida.nih.gov/ consequences.
can start a recovered person down the road of active addiction.
www.samhsa.gov.
- Multi-Media Library (includes many
tonin reuptake inhibitors (SSRIs), other antidepressants, or buspi- images of illegal drugs)—www.usdoj.gov/ dea/
rone for anxiety if a medication is needed. multimedia.html.
amount and manner of use. Involving a third person or sponsor to

help meter out the dose may prevent relapse. REFERENCES
Results from the 2010 National Survey on Drug Use and Health: Summary
of National Findings
FO LLO W-UP
abuse. Substance abuse is a chronic condition (similar to hyperten- Medical Conse-

sion or diabetes mellitus) and requires ongoing intervention to quences of Drug Abuse. http:// www.nida.nih.gov/ consequences/ ,
maintain sobriety.
the addiction, and the patient. adolescence and smoking. J Am Acad Child Adolesc Psychiatry.
Curr
Psychiatry Rep.
PATIENT EDUCATIO N
genetics of alcoholism sample. Alcohol Clin Exp Res.
moral character. Inform patients about the existing treatment pro-
grams in their community and offer them names and phone numbers Diagnostic and Statistical
so that they may get help. If your patient is not ready for help today, Manual of Mental Disorders
give the numbers and names for tomorrow. Speak about the value of
Treating Tobacco Use and
Dependence. Quick Reference Guide for Clinicians
community for everyone, including nonsmokers and agnostics.
PATIENT RESO URCES JAMA.
free. The Big Book is online for free in three languages.

www.alcoholics-anonymous.org/ . document pain outcomes in chronic pain patients receiving opioid
Basic Text therapy. Clin Ther.
more up to date and readable. http:// www.na.org/ .
Hope, Faith and Courage: Stories from the Fellowship of Cocaine Anon-
ymous www.ca.org.
www.crystalmeth.org.
APPENDIX
St re ng t h o f
(SO R) De nit io n

1320 APPENDIX A
APPENDIX A INTERPRETING there is strong data (SO R ) that antihistamines and decongestants
confer no bene t in symptom relief in children and are associated
EVIDENCE-BASED MEDICINE with signi cant toxicity. Data are absent with regard to saline nose
spray for sinusitis in children. Using antibiotics, there is modest
Mind y A. Smith, MD, MS potential bene t (about 10% decrease in clinical failure rate) and risks
of harm (primarily diarrhea in just under half [44%] but also skin
“Evidence-based medicine—is this something new?” asked my father, rash, headache, dizziness, and fatigue; although few discontinue
incredulously. “What were you practicing before?” medications because of these).
Like my father, our patients assume that we provide recommenda- The physician armed with this information can discuss the options
tions to them based on scienti c evidence. The idea that there might with the parent and explore potential bene ts and risks. Particularly
not be relevant evidence or that we might not have access to that evi- in dif cult cases where there are multiple options, the clinician’s
dence has not even occurred to most of them. This is certainly not to experience and the patient preferences are important aspects of
imply that such evidence is the be-all and end-all of medical practice shared decision-making. One de nition of EBM is, “The integration of
or that our patients would follow such recommendations blindly— best research evidence with clinical expertise and patient values.”
rather, for me, it is a starting point from which to begin rational Several other concepts are used throughout the book that can assist
testing or outline a possible therapeutic plan. practitioners in using evidence-based information and explaining that
The rst time that I recall the term evidence-based medicine (EBM) information to patients. Risk reductions from medical treatments are
being discussed was in the early 1990s. 1,2 It seemed that we would often presented in relative terms—the relative risk reduction (RRR) or
need to develop skills in evaluating the published literature and deter- the difference in the percentage of adverse outcomes between the
mining its quality, validity, and relevance to the care of our patients. intervention group and the control group divided by the percentage
As a teacher and researcher, I was intrigued by the challenges of criti- of adverse outcomes in the control group. These numbers are often
cally appraising articles and teaching this newfound skill to others. As large and use of them not only causes us to overestimate the impor-
a clinician, however, I was most interested in answering clinical ques- tance of a treatment but misses its clinical relevance. A more mean-
tions and doing so in a compressed time frame. I need rapid access to ingful term is the absolute risk reduction (ARR)—the risk difference
tools or sources that provided summary answers to those questions between the two groups. This number can then be used to obtain a
tagged to information about the quantity and quality of the evidence number needed to treat (NNT)—the number of patients that would
and the consistency of information across studies. need to be treated (over the same time as used in the treatment trial)
There seemed to be many systems for rating literature but few that to prevent 1 bad outcome or produce 1 good outcome. This is calcu-
met the needs of the busy practitioner trying to make sense of indi- lated as 100 percent divided by the ARR. NNT is more easily under-
vidual clinical trials and the hundreds of both evidence-based and con- stood by us and our patients. See the NNT example in Box A-1.
sensus-based guidelines that seemed to spring up overnight. In 2004, Another term that is used in this book is the likelihood ratio (LR).
the editors of the U.S. family medicine and primary care journals and This number, based on the sensitivity and speci city of a diagnostic
the Family Practice Inquiries Network published a paper on a uni ed test, is used to determine the probability of a patient with a positive
taxonomy called Strength of Recommendation (SOR) Taxonomy that test (LR+) having the disease or the probability of the patient with a
seemed to t the bill (Figure A-1). 3 This taxonomy made use of negative test (LR+) not having the disease in question. The LR is
existing systems for judging study quality while incorporating the de ned as the likelihood that a given test result would be expected in
concept of patient-oriented (e.g., mortality, morbidity, symptom a patient with the target disorder compared to the likelihood that the
improvement) rather than disease-oriented (e.g., change in blood same result would be expected in a patient without the target disor-
pressure, blood chemistry) outcomes as most relevant. SO R rec- der. 4 The number obtained for the LR+ [Sensitivity/ (100 – Speci c-
ommendation is one based on consistent, good-quality patient- ity)] or the LR– [(100 – Sensitivity)/ Speci city] can be multiplied by
oriented evidence; SO R is a recommendation based on inconsistent
or limited-quality patient-oriented evidence; and SO R is a recom-
mendation based on consensus, usual practice, opinion, disease- BO X A-1 NNT Examp le
oriented evidence, or case series (Figures A-1 and A-2).
In this book, we made a commitment to search for patient- If a ne w d rug was re le ase d for the tre atme nt of p ain and
oriented evidence to support the information that we provide in each a rand omize d controlle d trial found that the 70 p e rce nt
of the chapter sections (i.e., epidemiology, etiology and pathophysiol- of the tre ate d g roup re p orte d sig ni cant p ain control
ogy, risk factors, diagnosis, differential diagnosis, management, pre- (b ase d on the d e ne d e nd p oint) and 20 p e rce nt of the
vention, prognosis, and follow-up) and to provide a SOR rating for p lace b o g roup re p orte d sig ni cant p ain control this
that evidence whenever possible. The bulleted format within these would p rod uce an ab solute risk re d uction (ARR) of 50
divisions would allow the practitioner to quickly nd answers to their p e rce nt. In this case , the NNT would b e 100%/50% = 2.
clinical questions while providing some direction about how con dent O n ave rag e , only 2 p atie nts would ne e d to b e tre ate d
we were that a recommendation had high-quality patient-oriented for 1 p atie nt to re ce ive the d e ne d p ain control b e ne t.
evidence to support it. If the ARR was only 10 p e rce nt (30% of the inte rve ntion
For example, a parent of a child with suspected sinusitis asks about g roup and 20 p e rce nt of the control g roup b e ne tte d ),
the need for treating with antibiotics rather than saline nose spray and the n the NNT = 10 or 10 p atie nts would ne e d tre atme nt
decongestants?As noted in Chapter 26, Sinusitis, under Medications, on ave rag e for 1 to re ce ive b e ne t.
APPENDIX A 1321
FIGURE A-1 Use d with p e rmission from Eb e ll MH, Siwe k J, We iss BD, e t al. Simp lifying the lang uag e of e vid e nce to imp rove
p atie nt care : Stre ng th of re comme nd ation taxonomy (SO RT). J. Fam Pract 2004;53(2):110-120. With p e rmission from Frontline
Me d ical Communications.
1322 APPENDIX A
Stre ng th o f Re co mme ndatio n Base d o n a Bo dy o f Evide nce
Is this a key recommendation for clinicians regarding diagnosis or No Strength of Recommendation

treatment that merits a label? not needed
Yes
Is the recommendation based on patient-oriented evidence (i.e., an No

improvement in morbidity, mortality, symptoms, quality of life, or cost)?
Yes Strength of Recommendation = C
Is the recommendation based on expert opinion, bench research, a consensus

Yes
guideline, usual practice, clinical experience, or a case series study?
No
Is the recommendation based on one of the following?

Yes
Cochrane Review with a clear recommendation Strength of Recommendation = A
USPSTF Grade A recommendation
Clinical Evidence rating of Beneficial
Consistent findings from at least two good-quality randomized
controlled trials or a systematic review /meta-analysis of same
Validated clinical decision rule in a relevant population No
Co nsistent findings from at least two good-quality diagnostic cohort Strength of Recommendation = B
studies or systematic review/meta-analysis of same
FIGURE A-2 Assig ning a Stre ng th-of-Re comme nd ation g rad e b ase d on a b od y of e vid e nce . (USPSTF = US Pre ve ntive Se rvice s
Task Force .) (Use d with p e rmission from Eb e ll MH, Siwe k J, We iss BD, e t al. Simp lifying the lang uag e of e vid e nce to imp rove p atie nt
care : Stre ng th of re comme nd ation taxonomy (SO RT). J. Fam Pract 2004;53(2):110-120. With p e rmission from Frontline Me d ical
Communications.)
the pretest probability of disease to determine the posttest probability REFERENCES

of disease. A nomogram (one can be found by visiting the website 1. Evidence-Based Medicine Working Group. Evidence-based medi-
mentioned in reference 6) can be used to more easily work with these cine. A new approach to teaching the practice of medicine. JAMA.
numbers to convert a pretest probability into a posttest probability. A 1992;268:2420-2425.
LR+ over 10 is considered strong evidence to rule in disease while a
2. Shaughnessy AF, Slawson DC, Bennett JH. Becoming an informa-
LR– of less than 0.1 is strong evidence to rule out disease.
tion master: a guidebook to the medical information jungle. J Fam
We are both privileged and cursed with practicing medicine in an
Pract. 1994;39:489-499.
information-rich environment. We have designed our Color Atlas to
link evidence to clinical recommendations so that we can provide our 3. Ebell MA, Siwek J, Weiss BD, et al. Strength of Recommendation
patients the best science available. When the evidence is lacking, we Taxonomy (SORT): a patient-centered approach to grading evi-
make that clear and encourage you to engage in frank and honest dis- dence in the medical literature. J Fam Pract. 2004;53(2):
cussions that lead to the shared responsibility for decisions. Our 111-120.
patients are justi ed in expecting science along with humanism—can 4. Center for Evidence-Based Medicine. http:// www.cebm.net/
we give them anything less? index.aspx?o=1162, accessed May 12, 2014.
APPENDIX B 1323
APPENDIX B USE O F TO PICAL AND

INTRALESIO NAL CO RTICO STERO IDS
TABLE B-1 Corticoste roid Pote ncy Chart
Ge ne ric Name Trad e Name and St re ng t h

Class 1—Sup e rp o t e nt
Be tame thasone d ip rop ionate * Dip role ne ointme nt 0.05 p e rce nt
Di orasone d iace tate ** Psorcon ointme nt, 0.05 p e rce nt
Clob e tasol p rop ionate Te movate cre am, g e l, ointme nt, shamp oo, sp ray, or foam, 0.05 p e rce nt; also as
Cormax, Clob e x, Clare lux, O lux
Halob e tasol p rop ionate * Ultravate cre am/ointme nt, 0.05 p e rce nt
Class 2—Po t e nt
Amcinonid e Cyclocort cre am/ointme nt/lotion, 0.1 p e rce nt
Be tame thasone d ip rop ionate Dip rosone ointme nt, 0.05 p e rce nt
De soxime tasone Top icort cre am 0.25 p e rce nt, g e l 0.05 p e rce nt, and ointme nt 0.25 p e rce nt
Di orasone d iace tate ** Psorcon, Ap e xiCon ointme nt 0.05 p e rce nt
Fluocinonid e Lid e x, Lid e mol, Lyd e rm, Tiamol, Top actin, Top syn, Vanos cre am 0.05 p e rce nt,
0.1 p e rce nt/ointme nt/g e l, 0.05 p e rce nt
Halcinonid e Halog cre am/ointme nt/top ical solution, 0.1 p e rce nt
Class 3—Up p e r mid -st re ng t h
Be tame thasone vale rate * Diprolene, Luxiq, Dermabet, Alphatrex, Diprolene AF, Diprolene Glycol, Diprosone,
Valnac, BetaVal cream/lotion 0.05 percent or 0.1 percent, foam 0.12 percent
Di orasone d iace tate ** Psorcon, Ap e xiCon, Ap e xiCon E cre am 0.05 p e rce nt
Mome tasone furoate Elocon cre am/lotion/ointme nt, 0.1 p e rce nt
Triamcinolone ace tonid e Ke nalog top ical, Pe d iad e rm, Triace t, Triane x cre am, 0.5 p e rce nt
Class 4—Mid -st re ng t h
De soxime tasone Top icort LP cre am, 0.05 p e rce nt
Fluocinolone ace tonid e Synalar-HP cre am, 0.2 p e rce nt; Synalar ointme nt, 0.025 p e rce nt
Flurand re nolid e Cord ran ointme nt, 0.05 p e rce nt
Triamcinolone ace tonid e Aristocort, Ke nalog ointme nts, 0.1 p e rce nt
Class 5—Lo we r mid -st re ng t h
Be tame thasone d ip rop ionate Dip rosone lotion, 0.05 p e rce nt
Be tame thasone vale rate Valisone cre am, 0.1 p e rce nt; Be tatre x 0.1 p e rce nt
Fluocinolone ace tonid e Synalar cre am, 0.025 p e rce nt
Flurand re nolid e Cord ran cre am, 0.05 p e rce nt
Hyd rocortisone b utyrate Locoid cre am, 0.1 p e rce nt
Hyd rocortisone vale rate We stcort cre am, 0.2 p e rce nt
Pre d nicarb ate De rmatop cre am/ointme nt, 0.1 p e rce nt
Triamcinolone ace tonid e Ke nalog cre am/lotion, 0.1 p e rce nt
Class 6—Mild
Alclome tasone d ip rop ionate Aclovate cre am/ointme nt, 0.05 p e rce nt
Triamcinolone ace tonid e Aristocort cre am, 0.1 p e rce nt
De sonid e De sonate , De sO we n, Trid e silon, Ve rd e so cre am/lotion/ointme nt 0.05 p e rce nt,
foam 0.05 p e rce nt, g e l, 0.05 p e rce nt, 0.05 p e rce nt
Fluocinolone ace tonid e Synalar cream/solution, 0.01 percent; Capex shampoo, Dermasmooth, 0.01 percent
Be tame thasone vale rate Valisone lotion, 0.1 p e rce nt
Class 7—Le ast p o t e nt
Hyd rocortisone Hyton, Cortate , Unicort, othe r O TC cre am/lotion/foam
*< 12 ye ars old : Not re comme nd e d .

**Safe ty and e f cacy not e stab lishe d in p e d iatric p atie nts.
1324 APPENDIX B
TABLE B-2 Common Sid e Effe cts of To p ical Corticoste roid s
Skin atrop hy Most common ad ve rse e ffe ct

Ep id e rmal thinning may b e g in afte r only a fe w d ays
De rmal thinning usually take s se ve ral we e ks to d e ve lop
Usually re ve rsib le within 2 months afte r stop p ing the corticoste roid
Te lang ie ctasia Most ofte n occurs on the face , ne ck, and up p e r che st
Te nd s to d e cre ase whe n ste roid d iscontinue d , b ut may b e irre ve rsib le
Striae Usually occur around e xure s (g roin, axillary, and inne r thig h are as)
Usually p e rmane nt, b ut may fad e with time
Purp ura Fre q ue ntly occurs afte r minimal trauma
Attrib ute d to loss of p e rivascular sup p orting tissue in the d e rmis
Hyp op ig me ntation Re ve rsib le up on d iscontinuing the corticoste roid
Acne form e rup tions Particularly common on the face , e sp e cially with the “p ote nt” and “ve ry
p ote nt” corticoste roid s
Usually re ve rsib le
Fine hair g rowth Re ve rsib le up on d iscontinuation of the corticoste roid
Infe ctions May worse n viral, b acte rial, or fung al skin infe ctions
May cause tine a incog nito
Hyp othalamic-p ituitary-ad re nal Rare with top icals
axis sup p re ssion > 30 g /wk of “ve ry p ote nt” corticoste roid s should b e limite d to 3–4 wk
Child re n (> 10 g /wk) and e ld e rly are at hig he r risk b e cause of thinne r skin
TABLE B-3 Intrale sional Ste roid s—Conce ntrations for Inje ction
Co nce nt rat io n
o f Triamcino lo ne
Ace t o nid e So lut io n
Co nd it io n (mg / mL)
Acne (Fig ure B-1) 2 to 2.5
Alop e cia are ata (Fig ure B-2) 5 to 10
Granuloma annulare 5 to 10
Psoriasis 5 to 10
Hyp e rtrop hic liche n p lanus 5 to 10
Prurig o nod ularis 10
Hid rad e nitis sup p urativa 10
Ke loid s and hyp e rtrop hic scars 10 to 40
(Fig ure B-3)
Use a 27-g aug e or 30-g aug e ne e d le whe n inje cting intrale sional
ste roid s to minimize p ain. Ste roid d ilutions can b e mad e with
ste rile saline for inje ction. The inje ction hurts le ss than whe n
diluting the ste roid with lid ocaine . A Lue r-Lok syring e is he lp ful
to avoid the ne e dle from p op ping off d uring the inje ction. For
furthe r information o n p e rforming intrale sio nal inje ctions se e
Usatine R, Pfe nning e r J, Stulb e rg D, Small R. De rmato lo g ic
and Co sme tic Pro ce d ure s in O f ce Practice . Philad e lp hia, PA:
Else vie r; 2012. This te xt and acco mp anying vid e o s can also FIGURE B-1 Inje cting p ainful cystic acne with 2 mg /mL triamcinolone
b e p urchase d as an e le ctronic ap p lication at ht t p :/ / www. using a 30-g aug e ne e d le . (Use d with p e rmission from Richard P.
Usatine , MD.)
usa t ine me d ia .co m .
APPENDIX B 1325
FIGURE B-3 Inje cting a hyp e rtrop hic scar with 10 mg /mL triamcino-
lone using a 27-g aug e ne e d le on a Lue r-Lok syring e . (Use d with
FIGURE B-2 Inje cting alop e cia are ata with 5 mg /mL triamcinolone p e rmission from Richard P. Usatine , MD.)
using a 27-g aug e ne e d le on a Lue r-Lok syring e . (Use d with p e rmission
1327
INDEX
Note: In this index, the letters “f” and “t” denote gures and tables, respectively.
A etiology and pathophysiology of, 557

ABCDEF guidelines, for subungual melanoma, 928 management of, 559
ABCDE guidelines, 842f–845f, 843–844 patient education on, 560
Abdominal tuberculosis, 1085–1087, 1087f. See alsoTuberculosis (TB) patient story of, 556, 556f
Abdominal wall defects, newborn, 458–462 prognosis in, 559
gastroschisis, 458–460, 458f, 459f Acne conglobata, 578, 578f, 579f
omphalocele, 460–462, 460f, 461f Acne fulminans, 578, 579f
Abdominal wall formation, 458 Acne inversa, 589–592. See also Hidradenitis suppurativa
Abduction orthosis, for developmental dysplasia of hip, 532, 532f Acne keloidalis nuchae, 578, 580f, 599, 599f, 808, 808f
Abscess, 611, 611f, 613–615 Acne rosacea, 584–588. See also Rosacea
breast, 496, 497f Acne vulgaris, 576–582
in chronic granulomatous disease diagnosis of, 577, 577f
liver, 1268, 1268f differential diagnosis and types of, 578, 578f–580f
organ, 1268, 1268f acne conglobata, 578, 578f, 579f
de nition of, 613 acne fulminans, 578, 579f
diagnosis of, 613, 613f, 614f acne keloidalis nuchae, 578, 580f
differential diagnosis of, 614, 614f blackheads, 577, 578f
epidemiology of, 613 comedonal (obstructive) acne, 577, 577f, 578f
etiology and pathophysiology of, 613 in ammatory acne, 577, 577f
follow-up of, 615 neonatal acne, 576, 577f (See alsoAcne, neonatal)
intracranial, headache in, 1173f nodulocystic acne, 576, 576f
management of, 614–615, 614f pomade acne, 578, 579f
MRSA, 613 whiteheads, 577
patient story of, 613, 613f etiology and pathophysiology of, 576–577, 577f
perianal, 398–401, 399f, 400f (See also Perianal abscess) follow-up of, 582
peritonsillar, 184t, 185f fundamentals and epidemiology of, 576
retropharyngeal, 184t, 185f management of, 578–582
from sinusitis for acne fulminans, 579f, 582
epidural, 164t combination therapies in, 582
intracerebral, 164t for comedonal acne, 577f, 578f, 581, 581f
orbital, 164t, 167f complementary/ alternative therapy in, 580
subdural, 162f, 164t corticosteroid injection in, 580, 581f, 1324f
subperiosteal, 164t, 165f, 166f light and laser treatments in, 582
subperiosteal, 119–122, 164t, 165f, 166f (See also Orbital cellulitis; medication cost in, 582
Subperiosteal abscess) medications in, 578–580, 580f
Absolute risk reduction (RRR), 1320 for mild papulopustular acne, 581, 581f
Abuse, child for papulopustular or nodulocystic acne, 581
physical, 66–70 (See also Physical abuse, child) for severe cystic or scarring acne, 581, 582f
sexual, 72–76 (See also Sexual abuse, child) surgery in, 578f, 580, 581f
Acanthosis nigricans, 1112–1114 patient education on, 582
in diabetes, 1108, 1109f patient story of, 576, 576f
diagnosis of, 1112f–1114f, 1113 Acquired hypogammaglobulinemia, 1253–1258. See also B cell
differential diagnosis of, 1113–1114 immunode ciencies
epidemiology of, 1112, 1112f Acral lentiginous melanoma, 845t, 925–929. See also Melanoma, pediatric;
etiology and pathophysiology of, 1112–1113 Pigmented nail disorders
fundamentals of, 1112 Acral nevi, 827–828, 827f
management of, 1114 Acrodermatitis enteropathica, 573f, 574
in obesity, 1136, 1136f, 1137, 1137f from zinc de ciency, 49, 49f, 403, 405t, 406f
patient education on, 1114 Acrogeria, in Ehlers-Danlos syndrome, 1291, 1291f
patient story of, 1112, 1112f Acrolentiginous melanoma, 925–929. See also Pigmented nail disorders
prognosis of, 1114 Acropustulosis, 567–570, 567f. See also Pustular diseases of childhood
Accessory tragus, 129f, 130 infantile, 732, 732f
Accommodative esotropia, 99, 100f Acryocyanosis, of hands and feet in newborn, 12, 12f
Acetabular index, 532, 532f Actinic super cial folliculitis, 601
Acid re ux. See Gastroesophageal re ux disease (GERD) Acute chest syndrome, in sickle cell disease, 1219, 1219f, 1220
Acne, neonatal, 556–560, 576, 577f Acute disseminated encephalomyelitis (ADEM), Epstein Barr virus, 1070,
de nition of, 556, 556f 1070f
diagnosis of, 556f, 557f, 558 Acute generalized exanthematous pustulosis (AGEP), 889, 889f. See also Drug
differential diagnosis of, 558–559 reactions, cutaneous
epidemiology of, 557 Acute lymphoblastic leukemia (ALL), death from, 23
1328
INDEX
Acute otitis media (AOM), 136–143 Alice in Wonderland syndrome, 1070
diagnosis of, 136f–138f, 137–139 Allergic contact dermatitis, 745. See also Contact dermatitis
differential diagnosis of, 139–140, 139f, 140f Allergic crease, nasal
vs. bullous myringitis, 139, 139f in allergic rhinitis, 1240, 1240f
vs. cholesteatoma, 139, 139f in atopic dermatitis, 741, 742f
vs. mastoiditis, 140, 140f Allergic rhinitis, 1238–1242. See also Rhinitis, allergic
vs. otitis media with effusion, 139 Allergic shiners, 69
vs. tympanic membrane perforation, 140, 140f in allergic rhinitis, 1238f, 1240
epidemiology of, 136 in sinusitis, 156, 156f
etiology and pathophysiology of, 137 Allergies, 1238–1242. See also Rhinitis, allergic
fundamentals of, 136 Alopecia
management of, 140–141 black dot, 697, 698, 698f, 699
patient education on, 142–143 traction, 699–700, 700f, 915–918, 915f (See alsoTraction alopecia)
patient story of, 136, 136f Alopecia areata, 910–912
prevention of, 141–142, 142f diagnosis of, 910f–912f, 911–912
prognosis and follow-up of, 142 differential diagnosis of, 912
risk factors for, 137 epidemiology, etiology and pathophysiology of, 910
tympanosclerosis in, 138f, 142, 142f follow-up of, 911f, 913
ADAMTS13 de ciency, 440, 440t, 441, 441t management of, 912–913
Addiction, 1314–1318. See also Substance abuse disorder corticosteroid injection in, 1325f
Addison’s disease, 1148–1150 ophiasis pattern of, 911, 912f
diagnosis and differential diagnosis of, 1148f, 1149, 1149f patient education and prognosis in, 913
epidemiology of, 1148 patient story of, 910, 910f
etiology and pathophysiology of, 1148–1149 risk factors for, 911
fundamentals of, 1148 Alopecia totalis, 910
management of, 1149–1150 Alopecia universalis, 910, 910f
patient education on, 1150 Alpha-1-antitrypsin, in neonatal cholestasis, 389, 390f
patient story of, 1148, 1148f Amelanotic melanoma, 814, 814f, 845f, 845t, 847f. See also Melanoma,
prevention and screening for, 1150 pediatric
prognosis and follow-up of, 1150 Amoxicillin
risk factors for, 1149 cutaneous drug reaction from, 884–891, 884f, 887t (See also Drug
Adenitis reactions, cutaneous)
cat-scratch (See Cat-scratch disease) toxic epidermal necrosis from, 868, 870f
cervical, in periodic fever, aphthous stomatitis, pharyngitis, or cervical Amyopathic dermatomyositis, 1007
adenitis syndrome, 1018–1022 (See also Periodic fever...) Anaerobic vaginosis, 476–479
lymphadenitis, 199–203 (See also Lymphadenitis) Anal and rectal disorders, 392–401
suppurative anal ssure, 397–398, 397f
in chronic granulomatous disease, 1268, 1268f Hirschsprung disease, 392–393, 392f
in hidradenitis suppurative, 589–592 (See also Hidradenitis suppurativa) imperforate anus, 394–395, 394f, 395f
TB (scrofula), 59–61, 60f, 1085, 1086f (See alsoTuberculosis (TB)) perianal abscess and stula in ano, 398–401, 399f, 400f
diagnosis of, 1084–1085, 1086f, 1087t rectal prolapse, 395–397, 396f
Adenoids, 175 Anal bruising, in child sexual abuse, 73
Adenoma sebaceum, in tuberous sclerosis, 1187, 1187f Anal ssure, 397–398, 397f
Adenovirus conjunctivitis, 85–88 Anal stula, 398–401. See also Fistula in ano
AD-HIES-STAT3, 1263t, 1265f Anal laceration, in child sexual abuse, 73, 74f
AD-hyper IgE de ciency (syndrome), 1259–1266, 1260t, 1265f Anaphylactoid purpura, 1012. See also Henoch-Schönlein purpura
Adnexal tumors, benign, 847, 849f Ancylostoma braziliense, 734–735, 734f, 735f
Adrenal insuf ciency, primary Ancylostoma caninum, 734–735, 734f, 735f
in Addison’s disease, 1148–1150 (See alsoAddison’s disease) Anderson-Hynes open dismembered pyeloplasty, 420, 420f
in congenital adrenal hyperplasia, 1151–1154 (See also Congenital adrenal Anemia. See also speci c types
hyperplasia (CAH)) iron de ciency, 402, 402f, 1210–1213 (See also Iron de ciency anemia)
Adrenal steroidogenesis pathway, 1152, 1152f microcytic, 1212, 1212t
Adrenarche, premature, 1168 sickle cell, 1219–1223 (See also Sickle cell disease)
Adrenocortical hypofunction, 1148–1150 Angel’s kiss. See Salmon patch
Adrenocortical tumors, precocious puberty from, 1167 Angioedema, 761–766
Adult education, peer-to-peer, 43 diagnosis of, 762–763, 762f
Adverse reactions, cutaneous, 884–891. See also Drug reactions, cutaneous differential diagnosis of, 763–764
Aganglionosis, partial or total, 392–393, 392f from drugs, 884–891 (See also Drug reactions, cutaneous)
Alagille syndrome, in neonatal cholestasis, 388, 389f epidemiology of, 761
Albendazole, for intestinal parasites, 46 etiology and pathophysiology of, 761, 762f
Alcohol use, substance abuse disorder with, 1315–1316 follow-up of, 766
Alcohol use disorder, 1314–1318. See also Substance abuse disorder fundamentals of, 761
1329
INDEX
management of, 762f, 764–766 Assault, death from, 22
patient education on, 766 Asthma, 295–304
Angio bromas, facial, in tuberous sclerosis, 1187, 1187f atopic dermatitis with, 298, 298f, 737, 738 (See alsoAtopic dermatitis)
Angioplasty, percutaneous, for renal artery stenosis, 451, 451f diagnosis of, 297–300
Angiotensin-converting enzyme inhibitors, angioedema from, 763f, 764 clinical features in, 297–298, 298f
Angiotensin-receptor blockers, angioedema from, 764, 765f imaging in, 299–300, 300f
Angular cheilitis, with atopic dermatitis, 739, 740f laboratory testing in, 295f, 296f, 298–299, 299f
Angular stomatitis, from ribo avin de ciency, 403, 404t, 405f differential diagnosis of, 300
Ankyloglossia, 209t, 211f, 233–234, 233f epidemiology of, 295–296
Ankylosing spondylitis, uveitis in, 90 etiology and pathophysiology of, 296–297
Annular ligament follow-up of, 303–304
displacement of, 508–511, 508f (See also Nursemaid’s elbow) fundamentals of, 295
normal, 508, 508f management of, 300–303
Anogenital irritation/ bleeding, in child sexual abuse, 73, 74f, 75 NAEP components in, 300–301
Anogenital warts, 676–681. See alsoWarts, genital nonpharmacologic, 301, 301f
Anorectal malformations, imperforate anus, 394–395, 394f, 395f pharmacologic, 301–303
Ant, in ear, 150, 151f referral in, 303
Anterior uveitis, 89–91. See also Uveitis patient education on, 304
nongranulomatous, in juvenile idiopathic arthritis, 990f, 991 patient story of, 295, 295f, 295t–297t, 296f
from zoster ophthalmicus, 635f, 636, 637 prevention and screening for, 303
Antibiotic-associated colitis, 1038–1040 prognosis in, 303
Antibody immune de ciency syndrome, 1253–1258. See also B cell pulmonary function testing for, 295, 295f, 295t–297t, 296f
immunode ciencies risk factors for, 297
Antifungals, topical, 691–692, 692t, 714–715, 716t Asymmetric peri exural exanthem of childhood, 764, 764f
Aortic arch, double, in acute upper airway obstruction, 184f, 184t Ataxia telangiectasia, 1259–1266, 1261t, 1263t, 1265f. See also B and T cell
APGAR score, 14 immunode ciencies
Aphthae, 243–246. See alsoAphthous ulcer Atlases, on internet, 3, 4t
Aphthous stomatitis, 243–246. See alsoAphthous ulcer Atopic dermatitis, 737–744
Aphthous ulcer, 243–246 with asthma, 298, 298f, 737, 738
diagnosis of, 244–245, 244f crusting in, 743, 743f
differential diagnosis of, 245 diagnosis of, 738–741
vs. Behçet’s disease, 245, 245f distribution in, 737f, 738–739, 739f, 740f
vs. herpangina, 179f, 245 laboratory studies in, 741
epidemiology of, 243 differential diagnosis of, 741–742, 746f, 750
etiology and pathophysiology of, 243 epidemiology of, 737, 737f
fundamentals of, 243 etiology and pathophysiology of, 737–738, 738f
management of, 245–246, 245t follow-up of, 743
patient education on, 246 fundamentals of, 737
patient story of, 243, 243f impetiginization in, 595, 595f
prevention of, 246 management of, 742–743, 743f, 744t
risk factors for, 243 other features and conditions with, 739–741
Aplastic crisis, in sickle cell disease, 1220, 1220f angular cheilitis, 739, 740f
Appropriate for gestational age (AGA), 14 cutaneous infection susceptibility, 738f, 739
Arachnodactyly, in Marfan syndrome, 286, 286f, 1283, 1284f, 1286 Dennie-Morgan lines, 739, 740f, 958, 958f
Arcus juvenilis, 1129, 1129f eczema herpeticum, 738, 738f, 752, 752f, 753f
AR-HIES-DOCK8, 1263t, 1265f eczema vaccinatum, 738, 738f
AR-hyper IgE syndrome, 1259–1266, 1260t, 1262f ichthyosis, 739, 741f
Arterial anomalies, in PHACE syndrome, 1302, 1302f, 1304, 1305t keratoconus, 741, 742f
Arteriovenous malformations (AVMs), 214 keratosis pilaris, 739, 740f
Arthroconidia, in tinea cruris, 691, 691f nasal crease, horizontal, 741, 742f
As pityriasis alba, 739, 741f
4, 1317 xerosis, 738, 741f
5, 1317 patient education on, 743–744, 744t
Ascaris, 46, 46f patient story of, 737, 737f
Ascaris lumbricoides gastrointestinal infections, 1040–1045, 1042f. See also superinfected, 743f
Parasitic gastrointestinal infections Atopic eczema, 737–744. See alsoAtopic dermatitis
Ascites, in neonatal cholestasis, 388, 389f Atopic triad, 1238
Ascorbic acid de ciency, 403, 404t asthma in, 298, 298f
Ash leaf spots, 953, 953f atopic dermatitis in, 737, 738, 740f
in tuberous sclerosis, 1186, 1186f, 1187 patient story of, 958, 958f
Ashy dermatosis, 963, 963f, 964f Atrial brillation, with rapid ventricular response, 273, 273f
Aspergillus niger otitis externa, 131 Atrial septal defect, 254–256, 254f, 255f
1330
INDEX
Atrioventricular block, 276–278, 276f–278f B cell immunode ciencies, 1253–1258
Atrio-ventricular canal defect, in Down syndrome, 280–281, 280f, 281f diagnosis of, 1254–1255, 1255f, 1256f, 1257t
Atrioventricular dissociation, 276–278, 276f–278f differential diagnosis of, 1255–1257
Atrophic scarring, in Ehlers-Danlos syndrome, 1290, 1290f epidemiology of, 1253–1254
Atypical hemolytic uremic syndrome (aHUS), 438–442. See also Hemolytic etiology and pathophysiology of, 1254, 1254t
uremic syndrome (HUS) fundamentals of, 1253
Atypical mole, 837–841. See also Nevi, dysplastic management of, 1257
Atypical nevus, 837–841, 846–847, 846f. See also Nevi, dysplastic patient story of, 1253, 1253f
Aural atresia, 204, 204f, 208t, 217f prevention and screening for, 1258
Autoimmune hyperthyroidism. See Hyperthyroidism prognosis and follow-up of, 1258
Autoin ammatory syndromes, 1019t. See also speci c types Bead, in ear, 150, 150f
Autosomal dominant hypophosphatemic rickets, 1157, 1159 Beau lines, 921, 921f, 923t
Autosomal-dominant polycystic kidney disease, 425–429, 427f. See also Becker muscular dystrophy, 23, 23f
Polycystic kidneys vs. Duchenne muscular dystrophy, 1203t, 1205
Autosomal recessive hypophosphatemic rickets, 1157, 1159 Becker nevus, 819, 820f, 828, 828f
Autosomal-recessive polycystic kidney disease, 425–429. See also Polycystic Beckwith-Wiedemann syndrome, Wilms tumor in, 1230
kidneys Behçet disease (syndrome), 473–475, 473f
Avulsion fracture, metatarsal, 522–525 vs. aphthous ulcer, 245, 245f
Axenfeld-Rieger syndrome, 94, 95f vs. herpes simplex, 657, 657f
Axillary freckles, in neuro bromatosis, 1192, 1192f, 1193, 1195f uveitis in, 90
Bell’s palsy, 1176–1177, 1176f
B Benign adnexal tumors, 847, 849f
Baby bottle caries, 225–227. See also Caries, early childhood Benign cephalic histiocytosis, 805, 805f
Back curvature, 547–552. See also Scoliosis Benign familial pemphigus, 901–902, 901f
Bacterial endocarditis, 264–268. See also Endocarditis, bacterial Benign melanocytic hyperplasia, nail, 926
Bacterial vaginosis, 476–479 Benign migratory glossitis, 222–224. See also Geographic
diagnosis of, 476f, 477–478, 477f tongue
differential diagnosis of, 478 Benign nevi, 817–823. See also Nevi, benign
epidemiology of, 476 Bereavement, for child death, 25, 25f
etiology and pathophysiology of, 477 Biliary atresia, in neonatal cholestasis, 387, 387f, 388f, 389
follow-up of, 479 Bilobate placenta, 13, 14f
fundamentals of, 476 Birbeck granules, in Langerhans cell histiocytosis, 1234, 1234f
management of, 478–479, 478t Birth, child, 12–18
patient education on, 479 diagnosis in, 14–15, 14f, 15f
patient story of, 476, 476f epidemiology of, 12
prevention of, 479 etiology and pathophysiology of, 12, 13f
risk factors for, 477 follow-up of, 17
Bacteroides management of, 15–17
bacterial vaginosis from, 476–479 circumcision care in, 16
necrotizing fasciitis from, 619 cord care in, 16
otitis externa from, 131 for dehydration, 16
sinusitis from, 163 in delivery room, 15
Balanitis, Candida, 694, 694f. See also Candidiasis discharge criteria in, 17
Ballard exam, 15 for emesis, 16
B and T cell immunode ciencies, 1259–1266. See also speci c types for failure to pass meconium, 16
diagnosis of, 1262–1264, 1263t hepatitis B surface antigen in, maternal, 16
differential diagnosis of, 1264–1265 for hypoglycemia, 16
epidemiology of, 1261 for hypothermia, 15f, 16
etiology and pathophysiology of, 1260t–1261t, 1261 for jaundice, 16, 16f
fundamentals of, 1259, 1259f for neonatal withdrawal, 16–17
management of, 1266 in newborn nursery, 15–16
patient story of, 1259, 1259f patient education in, 17–18
prevention and screening for, 1266 patient story of, 12, 12f
prognosis and follow-up of, 1266 prevention and screening in
risk factors for, 1261 car safety seat testing, for premature, 17
syndromes of, 1260t–1261t circumcision, male, 17
Barlow sign, 530, 530f, 531 congenital heart disease, 17
Bartonella pyogenic granuloma, 813 developmental dysplasia of hip, 17
Bathing trunk nevi, 824–830, 824f, 825f, 843f. See also Nevi, hearing, 17
congenital hepatitis B vaccination, 17
Battery ingestion, 359–364, 360f, 361f. See also Foreign body metabolic state screen, 17
ingestion vitamin D, 17
1331
INDEX
prognosis in, 17 differential diagnosis of, 293
risk factors in, 13–14, 13f, 14f epidemiology of, 292
Birth weight, low etiology and pathophysiology of, 292–293, 292f
classi cation of, 12 management of, 293–294
death from, 21 patient education on, 294
Bites, insect, impetigo from, 596, 596f. See also Impetigo patient story of, 292, 292f
Bitot’s spot, from vitamin A de ciency, 403, 404t, 405f prevention and screening for, 294
Black dot alopecia, 697, 698, 698f, 699 prognosis and follow-up of, 294
Blackheads, 577, 578f. See alsoAcne vulgaris risk factors for, 293
Blaschkoid distribution Bronchogenic cyst, 328–329, 328f
of epidermal nevi, 831f, 832, 832f, 834f Bronchopulmonary sequestration, 335–337. See also Pulmonary sequestration
of incontinentia pigmenti, 1309, 1309f, 1310 Bronchus, tracheal, 326–328, 326f
of lichen nitidus, 799, 799f, 800f Bronchus suis, 326–328, 326f
of lichen striatus, 797, 798, 799, 800f Brown syndrome, 99, 102f
of linear and whorled hypermelanosis, 962, 962f Bruises, in child abuse, 66, 66f, 68–69, 68f, 69f
of nevus comedonicus and epidermal nevi, 820 Bruton’s agammaglobulinema, 1253–1258. See also B cell immunode ciencies
Blaschko linear acquired in ammatory skin eruption (BLAISE), 797–801. Buccal cellulitis, 116, 117f
See also Lichen striatus Buckle fracture
Bleeding disorders. See also speci c types diagnosis of, 516f–518f, 518
vs. child abuse, 69 management of, 521
Blindness, from Chlamydia trachomatis, 54, 54f, 55f Buffalo hump, in Cushing syndrome, 1143
Bloch-Sulzberger syndrome, 1308–1312. See also Incontinentia pigmenti Bullous diseases. See also speci c types
Blueberry muf n rash chronic bullous disease of childhood, 892–896 (See also Chronic bullous
in congenital cytomegalovirus, 1093, 1093f disease of childhood)
in congenital rubella, 1093, 1093f, 1094f dermatitis herpetiformis, 908–909, 908f, 909f
in neuroblastoma, 1226 epidermolysis bullosa, 904–906, 904f, 905f
Blue nevus, 818, 819f pityriasis lichenoides et varioliformis acuta, 906–907, 906f, 907f
Blue sclera, in osteogenesis imperfecta, 1293, 1293f, 1294, 1294f Bullous diseases of childhood, 892–896. See also Chronic bullous disease of
Body art complications. See Piercing complications; Tattoo complications childhood
Body lice, 722, 722f, 725. See also Lice Bullous ichthyosiform erythroderma, 982–986. See also Epidermolytic
Bones. See also speci c types and disorders ichthyosis
eosinophilic granuloma of, 770, 770f, 1233–1235 Bullous impetigo, 593–596, 593f–596f. See also Impetigo
fragile, in osteogenesis imperfecta, 1293–1297 (See also Osteogenesis differential diagnosis of, 895, 895f
imperfecta (congenital)) Bullous lichen planus, 792, 793f. See also Lichen planus
Bonnevie-Ullrich syndrome, 1279–1282. See alsoTurner syndrome Bullous myringitis, 139, 139f
Borrelia burgdorferi, 1063, 1063f. See also Lyme disease Burkholderia cepacia, in cystic brosis patients, 319
Bourneviller Pringle syndrome, 1186–1191. See alsoTuberous sclerosis Burns, from child abuse, 68, 68f
Branchial anomalies, 213t, 214. See also Head and neck masses Bush eld spots, in Down syndrome, 1275, 1276f
Branchial cleft cyst, 196, 196f, 197f Butter y rash
Branchio-oto-renal syndrome, 214, 218t in systemic lupus erythematosus, 997, 997t, 998, 998f, 1000f
Breast abscess, 496, 497f in tuberous sclerosis, 1187, 1187f
Breast development, Tanner staging of, 494, 495f Button battery ingestion, 359–364, 360f, 361f. See also Foreign body ingestion
Breastfeeding, HIV on, 43
Breast masses, adolescent, 494–497 C
diagnosis of, 495–496, 496f Café au lait macules (CALMs)
differential diagnosis of, 496–497 differential diagnosis of, 959f, 963, 963f
epidemiology of, 494 epidemiology of, 959, 959f
etiology and pathophysiology of, 494, 495f in neuro bromatosis, 1192–1195, 1192f, 1194f, 1195f (See also
fundamentals of, 494 Neuro bromatosis)
management of, 497 in tuberous sclerosis, 1188
patient education on, 497 CAGE questionnaire, 1317
patient story of, 494, 494f Calcium stones, 445–446. See also Kidney stones, pediatric
prevention and screening for, 497 Calf hypertrophy, in Duchenne muscular dystrophy, 1205, 1205f
prognosis and follow-up of, 497 Campylobacter gastroenteritis, 1038–1040
risk factors for, 494 Cancer. See also speci c types
Bridges-Good syndrome, 1267–1270. See also Chronic granulomatous disease death from, 23
Brittle bone disease, 1293–1297. See also Osteogenesis imperfecta Candida
Bronchiectasis bacterial endocarditis from, 264
in common variable immunode ciency, 1255, 1256f bacterial vaginosis from, 476–479, 477f
in primary ciliary dyskinesia, 1250, 1251f onychomycosis from, 934–938, 935f (See also Onychomycosis)
Bronchiolitis, 292–294 paronychia from, 941f (See also Paronychia)
diagnosis of, 293, 293f, 294f vaginitis from, 464–467, 464f
1332
INDEX
Candida albicans, 693 Cat-scratch disease, 1099–1105
Candidal diaper dermatitis, 571–575, 571f, 572f. See also Diaper rash diagnosis of, 1102–1104, 1103f, 1104f
Candida parapsilosis, 693 differential diagnosis of, 1104
Candida vulvovaginitis, 480–483 epidemiology of, 1099t, 1100
diagnosis of, 481–482, 481f, 694, 694f etiology and pathophysiology of, 1100
differential diagnosis of, 482 management of, 1105
epidemiology of, 480–481, 481f patient education on, 1105
etiology and pathophysiology of, 480f, 481, 481f prevention and screening for, 1105
fundamentals of, 480 prognosis in, 1105
management of, 482–483, 482t risk factors for, 1100
patient education on, 483 CAVE, 525
patient story of, 480, 480f Cavernous hemangiomas, 561–565, 562f. See also Hemangiomas, childhood
prevention of, 483 Cavernous lymphangiomas, 977
prognosis and follow-up of, 483 Cavernous sinus thrombosis, 164t
risk factors for, 481 Celiac disease, 382–386
Candidiasis, 693–696 diagnosis of
chronic mucocutaneous, 695, 695f, 1259–1266, 1261t, 1263t clinical features in, 383–384
(See also B and T cell immunode ciencies) endoscopy in, 382f, 383f, 384
diagnosis of, 693–695, 693f–695f laboratory studies in, 384
differential diagnosis of, 694f, 695 differential diagnosis of, 384–385
epidemiology of, 693, 693f, 694f epidemiology of, 382, 383f
etiology and pathophysiology of, 693 etiology and pathophysiology of, 382–383
fundamentals of, 693, 693f follow-up of, 385–386
with HIV, 1057, 1057f, 1058 management of, 385, 385t
management of, 695 nutritional disorders in, 402–407 (See also Nutritional disorders)
patient education on, 696 patient education on, 386
patient story of, 693, 693f patient story of, 382, 382f, 383f
prognosis in, 695–696 prognosis in, 385
risk factors for, 693 risk factors for, 383
vulvovaginal, 480–483 (See also Candida vulvovaginitis) Celiac sprue, 382–386. See also Celiac disease
Canker sores, 243–246. See alsoAphthous ulcer Cells. See also speci c types
Capillary malformations, congenital, 214 defective, 1249f, 1250, 1250f
Capillary stain. See Salmon patch motile, 1249, 1250f
Capillary-venous malformations, leptomeningeal, in Sturge-Weber Cellulitis, 609–612
syndrome, 1198–1199, 1199f buccal, 116, 117f
Caries, dental, 225 diagnosis of, 609f–611f, 610–611
Caries, early childhood, 225–227 differential diagnosis of, 611–612
diagnosis of, 225f, 226 epidemiology of, 609
epidemiology of, 225–226 etiology and pathophysiology of, 609.609f, 610f
etiology and pathophysiology of, 225f, 226 follow-up of, 612
uoride for, 227, 227f, 227t management of, 612
follow-up for, 227 orbital, 119–122 (See also Orbital cellulitis)
fundamentals of, 225 from sinusitis, 164t
management of, 226 patient education on, 612
patient education on, 227, 227f, 227t patient story of, 609, 609f
patient story of, 225, 225f preseptal (periorbital), 115–117 (See also Preseptal (periorbital)
risk factors for, 226 cellulitis)
Car safety seat testing, for premature newborns, 17 Central cyanosis, 250–253. See also Cyanosis
Caseating granuloma, in tuberculosis, 1087, 1088f Cephalic histiocytosis, benign, 805, 805f
Casts, red blood cell, 411, 411f, 413 Cerebral palsy, failure to thrive in, 342, 342f
in nephritic syndromes, 435, 436f Cerebral vascular accident, 1182–1184
Casts, urinary, 411 diagnosis of, 1183, 1184f
granular, 412, 412f differential diagnosis of, 1183–1184
hyaline, 411–412, 412f epidemiology, etiology and pathophysiology of, 1182
red blood cell, 411, 411f, 413 management of, 1184
in nephritic syndromes, 435, 436f patient education on, 1184
white blood cell, 411, 411f, 413 patient story of, 1182, 1182f
Cataract, 105t prevention of, 1184
Catarrh, spring, 87 prognosis and follow-up of, 1184
Cat bite cellulitis, 609, 610f risk factors for
Cat hookworms, cutaneous larva migrans from, 734–735, 734f, 735f in hemorrhagic stroke, 1182, 1183f
Cat-scratch adenitis. See Cat-scratch disease in ischemic stroke, 1182, 1182f, 1183f
1333
INDEX
Cerebral vascular malformations, in PHACE syndrome, 1302, 1302f, 1304 prognosis and follow-up of, 492
Cervical adenitis, in periodic fever, aphthous stomatitis, pharyngitis, or risk factors for, 490
cervical adenitis syndrome, 1018–1022. See also Periodic fever... Chlamydia trachomatis, 489
Cervical adenopathy, 199. See also Lymphadenopathy blindness from, 54, 54f, 55f
Cervical congenital anomalies, 205, 214 conjunctivitis from, 85–88
branchial anomalies, 213t, 214 (See also Head and neck masses) neonatal, 454–456, 455f
dermoid, 213t vaginitis from, 464–467, 466f
embryology and development of, 205, 214 Chlamydophila pneumonia, 308
rst cleft anomaly, 213t, 214f Chlorazol black fungal stain, 690, 692f
fourth cleft anomaly, 213t Choanal atresia, 206f, 206t
second cleft anomaly, 213t, 214f Cholera, 45–46, 46f
third cleft anomaly, 213t water and sanitation in, 43, 44f, 46f
thyroglossal duct cyst, 213f, 213t, 214f (See alsoThyroglossal duct cyst) Cholestasis, neonatal, 387–391
Cervical lymphadenopathy, 199–203. See also Lymphadenopathy diagnosis of
with HIV infection, 1058, 1060f clinical features in, 388, 388f, 389f
in infectious mononucleosis, 1068f, 1069 imaging in, 387f, 389
Cervicitis, Chlamydia, 489–492. See also Chlamydia cervicitis invasive tests in, 388f, 389, 390f
Cestode gastrointestinal infections, 1040–1045. See also Parasitic laboratory studies in, 388–389
gastrointestinal infections differential diagnosis of
CF. See Cystic brosis for hepatocellular cholestasis, 390
CFTR gene, 318, 319–320 for obstructive cholestasis, 389–390, 389f
CFTR protein, 318–319, 320 epidemiology of, 388
CGD, 1267–1270. See also Chronic granulomatous disease etiology of, 388
Chalazion, 78–80 follow-up and patient education in, 391
diagnosis of, 79, 79f, 80f fundamentals of, 387–388
differential diagnosis of, 79 management of, 390
epidemiology of, 78 patient story of, 387, 387f, 388f
etiology and pathophysiology of, 78–79, 79f prognosis in, 390
fundamentals of, 78 Cholestasis, nutritional disorders in, 402t. See also Nutritional disorders
management of, 80 Cholesteatoma
patient education on, 80 vs. acute otitis and otitis media with effusion, 139, 139f
prevention of, 80 with chronic mastoiditis, 147, 147f
prognosis and follow-up for, 80 Cholinergic urticaria, 763f. See also Urticaria
risk factors for, 79 Chorioretinitis, 89–91. See also Uveitis
Chancre, syphilis, 1051, 1051f, 1053, 1054. See also Syphilis Choroidal hemangioma, in Sturge-Weber syndrome, 1199, 1199f
Chancroid, 471–473, 471f, 1054, 1055f Choroiditis, 89–91. See also Uveitis
Cheloid, 807–810. See also Keloids Christensen, Randal Charles, 38–40, 39f, 40f
Chemosis, 1238f Chromosomal abnormalities, death from, 21–22
Cherry hemangioma, 814–815, 815f Chromosome 22q11.2 deletion syndrome. See DiGeorge syndrome
Chest, shield-like, in Turner syndrome, 1280, 1280f Chronic bullous dermatosis of childhood. See Chronic bullous disease of childhood
Chest x-ray Chronic bullous disease of childhood, 892–896
of bronchiolitis diagnosis of, 893–895, 893f, 894f
central bronchial thickening in, 293, 294f differential diagnosis of, 895
hyperin ation from air trapping and atelectasis in, 293, 293f vs. bullous impetigo, 895, 895f
perihilar markings in, increased, 293, 294f vs. epidermolysis bullosa, 895, 895f
normal, of 8 mo, 293f epidemiology of, 892
Chickenpox, 621f, 626–629. See alsoVaricella etiology and pathophysiology of, 892–893
Childbirth. See Birth, child fundamentals of, 892
Childhood sarcoidosis, 861–865. See also Sarcoidosis, pediatric management of, 895–896
Child physical abuse, 66–70. See also Physical abuse, child patient education on, 896
Child sexual abuse, 72–76. See also Sexual abuse, child patient story of, 892, 892f
Chitotriosidase, in sarcoidosis, 863 prognosis and follow-up of, 896
Chlamydia cervicitis, 489–492 Chronic daily headache, 1172–1175. See also Headache
diagnosis of, 489f, 490–491, 490f Chronic dysphagocytosis, 1267–1270. See also Chronic granulomatous disease
differential diagnosis of, 491 Chronic familial granulomatosis, 1267–1270. See also Chronic
epidemiology of, 489 granulomatous disease
etiology and pathophysiology of, 489–490 Chronic granulomatous disease, 1267–1270
fundamentals of, 489 diagnosis of, 1267–1269, 1268f, 1269f
management of, 491–492, 491t differential diagnosis of, 1269
patient education on, 492 epidemiology of, 1267
patient story of, 489, 489f etiology and pathophysiology of, 1267
prevention of, 492 management of, 1269–1270
1334
INDEX
Chronic granulomatous disease (Continued) Collagen dysplasia, hereditary, 1289–1292. See also Ehlers-Danlos syndromes
patient story of, 1267, 1267f Coloboma
prevention and screening for, 1270 in PHACE syndrome, 1302, 1305, 1305t, 1306f
prognosis and follow-up of, 1270 uveal, vs. leukocoria/ retinoblastoma, 107t, 111f
risk factors for, 1267 Colon, normal, 376f, 377f
Chronic mucocutaneous candidiasis, 695, 695f, 1259–1266, 1261t, 1263t. Comedonal (obstructive) acne, 577, 577f, 578f. See alsoAcne vulgaris
See also B and T cell immunode ciencies Common cold, 175–181. See also Upper respiratory infections
Chronic suppurative otitis media, 133, 133f Common River, 42, 42f
Cigarette use, substance abuse disorder with, 1315–1316 Common variable de ciency, 1253–1258, 1255f, 1256f. See also B cell
Ciliary ush, 89, 89f immunode ciencies
Circulation, intrauterine fetal, 12, 13f Common warts, 666–670. See alsoWarts, common
Circumcision, male newborn, 16, 17 Communication
Clark nevus, 837–841. See also Nevi, dysplastic with child patient, 7
Clavicular fracture, 512–515 effective, 6–7
diagnosis of, 513 Community-acquired pneumonia, 307–315
differential diagnosis of, 513–514, 514f diagnosis of, 308–312
distribution of, 513, 513t clinical features in, 308
epidemiology of, 512 imaging in, 309–312, 309f–312f
etiology and pathophysiology of, 513, 513f laboratory studies in, 308–309
follow-up of, 515 differential diagnosis of, 312
fundamentals of, 512, 512f, 513f epidemiology of, 307
management of, 513t, 514, 514f etiology and pathophysiology of, 307–308
patient education on, 515 follow-up of, 315
patient story of, 512, 512f fundamentals of, 307
prognosis in, 514 management of, 313–315, 314t
Cleft lip and palate, 214, 215f patient education on, 315
failure to thrive from, 342, 344f patient story of, 307, 307f
Clitoral piercing complications, 499–505, 500f prevention of, 315
Clostridium dif cile gastroenteritis, 1038–1040 prognosis in, 315
Clubbing, 250–253 risk factors for, 308
in cystic brosis, 319, 319f Complete DiGeorge syndrome, 1259–1266, 1263t. See also B and T cell
diagnosis of, 250–252, 251f, 252f immunode ciencies
epidemiology of, 250 Complete heart block, 276–278, 276f–278f
etiology and pathophysiology of, 250 Complex chronic conditions, death from, 23
fundamentals of, 250 Composite Asthma Severity Index (CASI), 299
management of, 252 Compound nevi, 818, 818f
patient story of, 250, 250f dysplastic nevi as, 837f, 838
prevention and screening for, 253 Computed tomography angiography, of renal artery stenosis, 449–450,
prognosis, follow-up, and patient education on, 253 449f, 450f
risk factors for, 250 Concha bullosa, in allergic rhinitis, 1240, 1241f
Club feet, 525–528 Condyloma, HPV, in HIV patient, 1057, 1057f
diagnosis of, 525–526, 526f Condyloma acuminata, 676–681. See alsoWarts, genital
differential diagnosis of, 526 Condyloma lata lesions, 679, 679f, 1052, 1052f, 1054, 1054f. See also Syphilis
epidemiology of, 525 adolescent female, 470–471, 470f, 471f
etiology and pathophysiology of, 525 Con uent and reticulated papillomatosis (CARP)
fundamentals of, 525 differential diagnosis of, 961, 961f
management of, 526–527, 526f–528f epidemiology of, 959
patient education on, 528 Congenital absence of pulmonary vein, 324–326, 324f
patient story of, 525, 525f Congenital adrenal hyperplasia (CAH), 1151–1154
prevention and screening for, 527 diagnosis of, 1151f, 1152–1153, 1153f
prognosis and follow-up of, 528 differential diagnosis of, 1153
Cluster headache, 1172–1175. See also Headache epidemiology of, 1151
Coagulase-negative Staphylococci bacterial endocarditis, 264 etiology and pathophysiology of, 1151–1152, 1151f, 1152f
Coarctation of the aorta, in Turner syndrome, 281–283, 282f fundamentals of, 1151
Coats disease, 108t, 111f management of, 1153
Cocaine, 1314, 1314f patient education on, 1154
Coining, 69, 70f patient story of, 1151, 1151f
Coin ingestion, 359–364, 359f–361f. See also Foreign body ingestion precocious puberty from, 1167
Cold, common, 175–181. See also Upper respiratory infections prevention and screening for, 1154
Cold urticaria, 761, 762f. See also Urticaria prognosis and follow-up of, 1154
Collagen defects risk factors for, 1152
in Ehlers-Danlos syndrome, 1289–1290 Congenital and perinatal infections, 1091–1096. See also speci c types
in osteogenesis imperfecta, 1293–1294 diagnosis of
1335
INDEX
clinical features for intrauterine infections in, 1093–1094, 1093f, etiology and pathophysiology of, 260–261
1093t, 1094f follow-up of, 262
clinical features for perinatally acquired infections in, 1092–1093, management of, 261–262, 262f, 263f
1092f, 1093f patient education on, 263
imaging in, 1092f, 1095, 1095f, 1096f patient story of, 260, 260f
laboratory testing in, 1094–1095 prevention and screening for, 262
differential diagnosis of, 1095 prognosis in, 262
epidemiology of, 1091–1092 risk factors for, 261
etiology and pathophysiology of, 1092 Congenital hypothyroidism, 1116–1121, 1116f, 1118f
fundamentals of, 1091 Congenital lobar emphysema, 330–332, 330f
management of, 1096 Congenital malformations. See also speci c types
patient education on, 1096 death from, 21–22
patient story of, 1091, 1091f Congenital megacolon, 392–393, 392f
prevention and screening for, 1096 Congenital melanocytic nevi, 824–830. See also Nevi, congenital
prognosis and follow-up of, 1096 Congenital nevi, 824–830. See also Nevi, congenital; speci c types
risk factors for, 1092 tardive, 824
Congenital anomalies, head and neck, 204–218. See also speci c types Congenital pulmonary airway malformation (CPAM), 332–335. See also
de nition of, 204 Congenital cystic adenomatoid malformation (CCAM)
diagnosis of, 204–205 Congenital pulmonary malformations. See Pulmonary malformations,
embryology, development, and presentation of, 205, 214, 216 congenital
management of, 205 Congenital rubella syndrome, 1091–1096, 1093f, 1094f. See also Congenital
patient story of, 204, 204f and perinatal infections
by site (See also speci c sites) Congenital talipes equinovarus, 525–528. See also Club feet
cervical, 205, 213f, 213t, 214, 214f Congenital thymic hypoplasia/ aplasia. See DiGeorge syndrome
cleft lip/ palate, 214, 215f Congenital unilateral pulmonary vein agenesis, 324–326, 324f
ear, 204, 204f, 205, 208f, 208t, 209f, 217f Congenital xanthoma tuberosum, 803–806. See also Juvenile
lymphatic malformations, 215f, 216, 216f xanthogranuloma
nasal, 205, 206f, 206t, 207f Conjunctival hyperemia, in toxic shock syndrome, 1075, 1077f
oral/ oropharyngeal, 205, 209t, 210f–212f Conjunctival yellowing, in hyperbilirubinemia, 388, 388f
vascular anomalies, 214, 216, 216f Conjunctivitis, 85–88
syndromes with, 216, 218t allergic, 85–88
branchio-oto-renal, 214, 218t in allergic rhinitis, 1238f, 1240
fetal alcohol, 218t bacterial, 85, 86f
oculo-auriculo-vertebral spectrum, 217f, 218t diagnosis of, 85, 85f, 86f
Stickler’s, 218t differential diagnosis of, 86–87, 86f, 87f
Treacher Collins, 204f, 218t vs. herpetic keratitis, 86, 86f, 87f
velocardiofacial (DiGeorge), 218t vs. trachoma, 87, 87f
terminology for, 204 epidemiology of, 85
Congenital cystic adenomatoid malformation (CCAM), 332–335 etiology and pathophysiology of, 85
diagnosis of, 333, 333f–334f follow-up and return to school in, 88
differential diagnosis of, 333 foreign body, 86–87, 87f
epidemiology of, 333 giant papillary, 85, 86f
etiology and pathophysiology of, 333 gonococcus, 85, 86f, 454–456, 454f, 455f
fundamentals of, 332, 332f management of, 87–88
management of, 334 patient education on, 88
patient story of, 332, 332f patient story of, 85, 85f
prevention and screening for, 335 prevention of, 88
prognosis and follow-up of, 335 vernal (allergic, warm weather), 87
Congenital dysphagocytosis, 1267–1270. See also Chronic granulomatous viral, 85, 86f
disease from zoster ophthalmicus, 636
Congenital epulis, 210t, 211f Conjunctivitis, neonatal, 454–456
Congenital heart disease diagnosis of, 454f, 455, 455f
death from, 22 differential diagnosis of, 455–456
newborn screening for, 17 epidemiology of, 454
Congenital heart disease, acyanotic, 254–259 etiology and pathophysiology of, 454
atrial septal defect, 254–256, 254f, 255f management of, 456
patent ductus arteriosus, 257–259, 258f patient education on, 456
ventricular septal defect, 256–258, 256f patient story of, 454, 454f
Congenital heart disease, cyanotic, 260–263 prevention and screening for, 456
de nition and forms of, 260, 260f prognosis and follow-up of, 456
diagnosis of, 261, 261f risk factors for, 455
differential diagnosis of, 261 Conotruncal anomaly face syndrome. See also DiGeorge syndrome
epidemiology of, 260 heart disease with, 283–284, 283f
1336
INDEX
Constitutional delay of growth and puberty (CDGP), Corneal ulceration
1161–1165 vs. corneal foreign body/ abrasion, 83, 83f, 84f
de nition of, 1161 vs. nasolacrimal duct obstruction, neonatal, 95, 95f
diagnosis of Corticosteroid use. See also speci c disorders
in boys, 1161–1163, 1162f, 1163f intralesional injection
in girls, 1161–1163, 1164f, 1165f for alopecia areata, 1325f
differential diagnosis of, 1163, 1163f concentrations for, 1324t
epidemiology of, 1161 for cystic acne, 581, 582f, 1324f
etiology and pathophysiology of, 1161 for hypertrophic scar, 1325f
follow-up of, 1164 potency chart for, 1323t
management of, 1163–1164 side effects of, 1324t
patient education on, 1165 Corynebacterium, pitted keratolysis from, 603
patient story of, 1161, 1161f Corynebacterium minutissimum, erythrasma from, 606, 606f
prognosis in, 1165 Corynebacterium vaginalis, 476–479
risk factors for, 1161 Corynebacterium vaginitis, 476–479
Consumption. SeeTuberculosis (TB) Corynebacterium vaginosis, 476–479
Contact dermatitis, 745–751 Coxsackievirus A6 hand foot mouth syndrome, 648–649,
diagnosis of, 714, 714f 649f–651f
clinical features in, 745f, 747–748, 747f, 748f Coxsackievirus A16 hand foot mouth syndrome, 648–649
history in, 745–746, 745f–747f Coxsackievirus infection, 179, 179f
laboratory studies in, 745f, 749–750, 749f Crab lice (crabs), 721–725, 722f, 723f. See also Lice
patch testing (T.R.U.E. Test) in, 747, 749f, 750t Crab louse, 722, 722f. See also Lice
differential diagnosis of, 749–750 Cradle cap, 767–771, 769f. See also Seborrheic dermatitis (seborrhea)
vs. atopic dermatitis, 746f, 750 Crayon, in ear, 150, 150f
vs. dye allergies, 750, 750f Creeping eruption, 734–735, 734f, 735f
epidemiology of, 745, 745f CREST syndrome, 1030f, 1031, 1031f, 1033f
etiology and pathophysiology of, 745 Crews’n Healthmobile, 38–40, 39f
fragrances in, 746, 747f Crohn disease, 375–380. See also In ammatory bowel disease
lip licking in, 746, 746f nutritional disorders in, 402–407 (See also Nutritional disorders)
neomycin in, 746, 747f peptic ulcer disease from, 353f, 354, 354f
nickel exposure in, 746, 746f seronegative spondyloarthropathy in, 378f
occupational exposures in, 745f, 746, 747 Crooked eye, 98–103. See also Strabismus
poison ivy/ oak in, 747, 747f, 748, 748f Cross-eye, 98–103. See also Strabismus
shoes in, 747, 748f Crotch rot, 708–711. See alsoTinea cruris
tapes in, 747, 748f Crow sign, in neuro bromatosis, 1192, 1192f, 1193, 1195f
follow-up of, 751 Cryopyrin associated periodic syndromes (CAPS), 1018–1022
fundamentals of, 745 diagnosis of, 1019
management of, 750–751 differential diagnosis of, 1020–1021
Contact lens follow-up of, 1021–1022
conjunctivitis from, 85, 86, 86f fundamentals of, 1018
giant papillary conjunctivitis from, 85, 86f management of, 1021
keratitis from, 86 patient education on, 1022
Copper de ciency, 403, 405t Cryptococcosis, with HIV, 1058, 1058f
Cord care, newborn, 16 Cryptosporidium gastrointestinal infections, 1040–1045. See also Parasitic
Corneal abrasion, 95, 95f gastrointestinal infections
Corneal epithelial defect, 82–84. See also Corneal foreign body/ Cryptosporidium hominis, 1040–1045. See also Parasitic gastrointestinal
abrasion infections
Corneal foreign body/ abrasion, 82–84 Cryptosporidium parvum, 1040–1045. See also Parasitic gastrointestinal
diagnosis of, 82–83, 82f, 83f infections
differential diagnosis of, 83, 83f, 84f Cs, 3, 1317
epidemiology of, 82 Cushing syndrome, 1143–1146
etiology and pathophysiology of, 82 diagnosis of, 1143–1145, 1144f, 1145f
management of, 83–84, 83f differential diagnosis of, 1145, 1146f
metallic, 83, 83f epidemiology of, 1143
patient education on, 84 etiology and pathophysiology of, 1143
patient story of, 82, 82f follow-up of and patient education on, 1146
prevention of, 84 fundamentals of, 1143
prognosis and follow-up for, 84 management of, 1145
risk factors for, 82 patient story of, 1143, 1143f
wood chip, 83f prevention and screening of, 1145
1337
INDEX
prognosis in, 1145–1146 D
risk factors for, 1143 Dacrocystitis, 92–95. See also Nasolacrimal duct obstruction, neonatal
Cutaneous adverse reactions, 884–891. See also Drug reactions, cutaneous periorbital cellulitis from, 116, 116f (See also Preseptal (periorbital)
Cutaneous drug reactions, 884–891. See also Drug reactions, cutaneous; cellulitis)
speci c drugs and types Dacrocystocele, 93, 93f
Cutaneous larva migrans, 734–735, 734f, 735f bilateral, 93, 94f
Cutaneous tuberculosis, 59–61, 59f, 60f intranasal cyst with, 93, 94f
Cutaneous vasculitis, 877–882. See alsoVasculitis Dactylitis, in sickle cell disease, 1220, 1220f
Cutis marmorata, 558, 559f, 979, 980f Dancer fracture, 522–525
Cyanosis, 250–253 Dandruff, 767–771. See also Seborrheic dermatitis (seborrhea)
diagnosis of, 251–252, 251f, 252f DandyWalker malformation, 1302, 1302f, 1304, 1305t
differential diagnosis of, 252 Darier disease, 968–970
epidemiology of, 250 diagnosis of, 968f, 969, 969f
etiology and pathophysiology of, 250 differential diagnosis of, 969–970
fundamentals of, 250 epidemiology of, 968
management of, 252 etiology and pathophysiology of, 969
patient story of, 250, 250f follow-up and patient education on, 970
prevention and screening for, 253 management of, 970
prognosis, follow-up, and patient education on, 253 patient story of, 968, 968f
risk factors for, 250 Darier sign, positive, 762, 764f. See also Urticaria
Cyclotropia, 98–101. See also Strabismus Deaths, pediatric, 20–21
Cyst Deep hemangiomas of infancy, 561–565, 562f. See also Hemangiomas, childhood
branchial cleft, 196, 196f, 197f Dehydration, newborn, 16
breast, 494 Delayed puberty, 1161–1165
bronchogenic, 328–329, 328f Dennie-Morgan lines
digital mucus, 942, 942f in allergic rhinitis, 1240, 1240f
epidermal inclusion, 614, 615f in atopic dermatitis, 739, 740f, 958, 958f
foregut duplication, 328–329, 328f Dental caries, 225
mucous retention, 235–237, 236f Dental caries, early childhood, 225–227. See also Caries, early childhood
nasolacrimal duct, 206t Dental enamel defects, in celiac disease, 384, 384f
in polycystic kidneys, 425–429 (See also Polycystic kidneys) Dental trauma, 229–232
renal, in tuberous sclerosis, 1189, 1189f, 1190 diagnosis of, 229–231
subglottic, 184t, 187f intraoral soft tissue trauma, 230, 230f
thyroglossal duct, 195–198, 195f, 196f, 213f, 213t, 214f tooth displacement injuries, 230, 230f
(See alsoThyroglossal duct cyst) tooth fracture, 229–230, 230f
vallecular, 184t, 187f differential diagnosis of, 231
Cystic brosis, 318–323 epidemiology of, 229
diagnosis of etiology and pathophysiology of, 229
clinical features in, 318f, 319, 319f fundamentals of, 229
imaging in, 320, 320f, 321f management of, 231, 231f
laboratory testing in, 319–320 patient education on, 232
differential diagnosis of, 320–321 patient story of, 229, 229f
epidemiology of, 318 prevention and screening for, 231
etiology and pathophysiology of, 318–319 prognosis and follow-up of, 231
fundamentals of, 318 risk factors for, 229
management of, 321–322 Dentin fracture, 230, 230f
nutritional disorders in, 402t (See also Nutritional disorders) Denys-Drash syndrome, Wilms tumor in, 1230
patient education on, 323 Dermal melanocytosis. See Mongolian spots
patient story of, 318, 318f Dermal nevi, 818, 818f
prevention and screening for, 322–323 Dermatitis. See also speci c types
prognosis and follow-up of, 323 acrodermatitis enteropathica, 573f, 574
risk factors for, 319 from zinc de ciency, 49, 49f, 403, 405t, 406f
Cystic hygromas, 977 atopic, 737–744
Cystic lymphangioma, 196, 197f with asthma, 298, 298f
Cystine stones, 445–446, 445f. See also Kidney stones, pediatric contact, 745–751
Cystinuria, 445, 445f allergic, 745
Cystitis, 413 diagnosis of, 714, 714f
Cytomegalovirus infection diaper (See Diaper rash)
congenital, 1091–1096, 1093f, 1095, 1095f (See also Congenital and diaper, erosive, 573, 573f
perinatal infections) nickel, from piercing, 501, 502f
with HIV infection, 1058, 1059f papular acrodermatitis of childhood, 907, 907f
peptic ulcer disease from, 354 from Epstein Barr virus, 1069, 1069f
1338
INDEX
Dermatitis (Continued) management of, 1110
perioral, 587, 587f patient education on, 1111
seborrheic, 573, 574f, 767–771 (See also Seborrheic dermatitis patient story of, 1108, 1108f
(seborrhea)) prevention and screening for, 1110–1111
Dermatitis, perianal, 571–575 prognosis in, 1111
de nition of, 571 risk factors for, 1108
diagnosis of, 571f–573f, 572 Diabetic ketoacidosis
differential diagnosis of, 573–574, 573f, 574f diagnosis of, 1108, 1110
epidemiology of, 571, 571f, 572f prognosis in, 1111
etiology and pathophysiology of, 571f, 572 Diagnosis. See also speci c disorders
management of, 574–575 images for, 2f, 3, 3f, 4t
patient education on, 575 internal image banks for, 3
patient story of, 571, 571f using images for, 2–4, 2f, 3f, 4t
prevention of, 575 Diaper dermatitis. See Diaper rash
prognosis and follow-up of, 575 Diaper rash, 571–575
risk factors for, 572 de nition of, 571
Dermatitis herpetiformis, 908–909, 908f, 909f diagnosis of, 571f–573f, 572
in celiac disease, 384, 384f, 908–909, 908f, 909f differential diagnosis of, 573–574, 573f, 574f
Dermatitis of Jacquet, 573, 573f vs. acrodermatitis enteropathica, 573f, 574
Dermatocenter andersoni, 1100, 1102f vs. erosive diaper dermatitis, 573, 573f
Dermato broma, 804f, 805, 847 vs. granuloma gluteale infantum, 573, 573f
Dermatographism, 762, 762f. See also Urticaria vs. intertrigo with bright red erythema, 574, 574f
Dermatomyositis vs. Langerhans cell histiocytosis, 574, 574f
etiology and pathophysiology of, 1004 vs. pseudoverrucous papules and nodules, 573, 574f
juvenile, 1003–1010 (See also Juvenile dermatomyositis) vs. seborrheic dermatitis, 573, 574f
Dermatomyositis sine myositis, 1007 epidemiology of, 571, 571f, 572f
Dermatophilus congolensis pitted keratolysis, 603 etiology and pathophysiology of, 571f, 572
Dermatophytes. SeeTinea; speci c types Candida in, 571, 571f, 572, 572f, 693, 694f (See also Candidiasis)
Dermatophyte test medium (DTM) culture, 936 management of, 574–575
Dermatophytosis of nails, 934–938. See also Onychomycosis patient education on, 575
Dermoid, congenital patient story of, 571, 571f
cervical, 213t prevention of, 575
nasal, 206t, 207f prognosis and follow-up of, 575
oral/ oropharyngeal, 210t, 212f risk factors for, 572
Dermoscopy Diarrhea, 1038. See also Gastrointestinal infections
of benign nevi, 821–822, 822f Diet, nutrients in, 406t
of melanoma, 842f, 844–845, 845f Diffuse cutaneous mastocytosis, 1311, 1311f
for scabies, 730–731, 730f Diffuse systemic sclerosis, 1029–1035. See also Scleroderma
Desmoglein, 899 DiGeorge syndrome, 218t, 1243–1248
Desquamation, in toxic shock syndrome, 1075, 1077f complete, 1259–1266, 1263t (See also B and T cell immunode ciencies)
Developmental dysplasia of hip, 530–533 diagnosis of, 1243f–1246f, 1244–1246
de nition of, 530 differential diagnosis of, 1246
diagnosis of, 530f–532f, 531–532 vs. fetal alcohol syndrome, 1246, 1247f
differential diagnosis of, 532 epidemiology of, 1243–1244
epidemiology of, 530–531 etiology and pathophysiology of, 1244
etiology and pathophysiology of, 531 fundamentals of, 1243
management of, 532–533, 532f, 533f heart disease with, 283–284, 283f
newborn screening for, 17 management of, 1247–1248
patient story of, 530, 530f patient education on, 1248
prognosis and follow-up of, 533 patient story of, 1243, 1243f, 1244f
risk factors for, 531 prevention and screening for, 1248
screening for, 533 prognosis and follow-up of, 1248
Dextrocardia, in Kartagener syndrome, 1249, 1249f risk factors for, 1244
Diabetes, 1108–1111 Digital subtraction angiography (DSA), of renal artery stenosis, 450
acanthosis nigricans in, 1108, 1109f (See alsoAcanthosis nigricans) Direct immuno uorescence (DIF), for pemphigus, 901, 901f
diagnosis of Disabilities, caring for those with, 36–38, 36f, 38f
clinical features in, 1108–1109, 1109f Discoid lupus erythematosus (DLE), 995–1001
laboratory testing in, 1109–1110 diagnosis of, 997–999
differential diagnosis of, 1110 clinical features in, 997–998, 998f, 999f
epidemiology of, 1108 distribution in, 998
etiology and pathophysiology of, 1108 laboratory testing in, 998–999
follow-up of, 1111 differential diagnosis of, 1000
1339
INDEX
epidemiology of, 995–996 patient education on, 891
etiology and pathophysiology of, 996 patient story of, 884, 884f
management of, 1000 prevention of, 890–891
patient education on, 1001 prognosis and follow-up of, 891
prevention of, 1001 risk factors for, 886–887
prognosis and follow-up of, 1001 Drug reaction with eosinophilia and systemic symptoms (DRESS), 884–891,
Discoid panniculitis (profundus), 998, 1000f 889f. See also DRESS (drug reaction with eosinophilia and systemic
Discoloration, skin, vs. child abuse, 69 symptoms)
Dismembered pyeloplasty, Anderson-Hynes open, 420, 420f Drumstick appearance, 251, 252f
Diuretic renography, 418, 419f Dry skin, with atopic dermatitis, 738, 741f
DMD gene, 1204 Duane syndrome, 98, 101f
DNA ligase IV de ciency, 1259–1266, 1260t, 1263t, 1264f. See also B and T Duchenne muscular dystrophy, 1202–1207
cell immunode ciencies vs. Becker muscular dystrophy, 1203t, 1205
Doctor–patient relationship diagnosis of, 1205–1206, 1205f
communication in differential diagnosis of, 1206
with child patients, 7 epidemiology of, 1204
effective, 6–7 etiology and pathophysiology of, 1204, 1204f
family-oriented care in, 7 follow-up of, 1207
patient story in, 6, 6f fundamentals of, 1203–1204
what families want from providers in, 6 management of, 1206
DoctorsWithout Borders, 31–32 patient story of, 1202, 1202f–1203f
Dog hookworms, cutaneous larva migrans from, 734–735, 734f, 735f prevention and screening of, 1206
Double aortic arch, in acute upper airway obstruction, 184f, 184t prognosis in, 1206–1207
Double bubble sign, in Down syndrome, 1274, 1274f, 1276 risk factors for, 1204–1205
Dowling-Meara epidermolysis bullosa, 904–906, 904f Due date, baby’s, 12
Down syndrome, 1274–1278 Dust mites, 301, 301f
diagnosis of, 1274f–1276f, 1275–1277 Dye allergies, tattoo, 499, 499f, 500, 501f, 750, 750f
differential diagnosis of, 1277 Dyscoria, 124f
epidemiology of, 1275 Dysentery, 1039
etiology and pathophysiology of, 1275 Dyshidrotic eczema, 714, 715f
follow-up of, 1278 Dysphagocytosis
fundamentals of, 1274, 1274f chronic, 1267–1270 (See also Chronic granulomatous disease)
heart disease with, 280–281, 280f, 281f congenital, 1267–1270 (See also Chronic granulomatous disease)
management of, 1277 Dysplastic nevus, 837–841. See also Nevi, dysplastic
patient education on, 1278 Dysrhythmias, common, 272–278
patient story of, 1274, 1274f complete heart block, 276–278, 276f–278f
prevention and screening for, 1277–1278 long QT syndrome, 274–276, 274f, 275f
prognosis in, 1278 Wolff-Parkinson-White syndrome, 272–274, 272f, 273f
risk factors for, 1275 Dystophinopathies. See Duchenne muscular dystrophy
Doxycycline, xed drug eruption from, 885, 886f. See also Drug reactions, Dystrophic epidermolysis bullosa, 904–906, 905f
cutaneous Dystrophin, 1204, 1204f, 1205, 1205f
DRESS (drug reaction with eosinophilia and systemic symptoms), 884–891.
See also Drug reactions, cutaneous
diagnosis of, 888–889, 889f E
differential diagnosis of, 889–890 Ear congenital anomalies, 208t
epidemiology of, 885, 887t aural atresia, 204, 204f, 208t, 217f
etiology and pathophysiology of, 885–886 embryology of, 205
fundamentals of, 884 microtia, 204, 204f, 208t, 209f, 217f
management of, 890 prominent ears, 208t, 209f
patient education on, 891 Ear foreign body, 150–152
prevention of, 890–891 ant, 150, 151f
prognosis and follow-up of, 891 bead, 150, 150f
risk factors for, 886–887 crayon piece, 150, 150f
Drug-induced hypersensitivity syndrome (DIHS), 884–891. See also DRESS differential diagnosis of, 151
(drug reaction with eosinophilia and systemic symptoms) sand, beach, 150, 150f
Drug reactions, cutaneous, 884–891. See also speci c drugs and types Early childhood caries (ECC), 225–227. See also Caries, early childhood
diagnosis of, 884f–889f, 888–889 Early puberty, 1166–1170. See also Precocious puberty
differential diagnosis of, 889–890 Ears, prominent, 208t, 209f
epidemiology of, 884–885, 884f–887f, 887t Ecchymoses, periorbital, in neuroblastoma, 1225, 1225f, 1226, 1226f
etiology and pathophysiology of, 885–886 Ecstasy, 1315, 1315f
fundamentals of, 884 Ecthyma gangrenosum, 624–625, 624f, 625f
management of, 890 Ectopia lentis, in Marfan syndrome, 1283, 1284, 1286, 1287f
1340
INDEX
Ectopic cervical thyroid, 195–198. See alsoThyroglossal duct cyst laboratory and ancillary testing in, 266–267
Eczema, 737–744. See alsoAtopic dermatitis Osler nodes in, 265, 266, 266f
atopic, 737–744 Roth spots in, 264, 264f, 265, 266
dyshidrotic, 714, 715f splinter hemorrhages in, 266, 266f
nummular, 756–759 (See also Nummular eczema) differential diagnosis of, 267
seborrheic, 767–771 (See also Seborrheic dermatitis (seborrhea)) epidemiology of, 264
Eczema herpeticum, 752–754 etiology and pathophysiology of, 264–265, 265f
with atopic dermatitis, 738, 738f, 752, 752f, 753f fundamentals of, 264
diagnosis of, 752–753, 753f management of, 267
differential diagnosis of, 753–754 patient education on, 268
epidemiology, etiology and pathophysiology of, 752 patient story of, 264, 264f
fundamentals of, 752 prevention of, 267–268
management of, 753 prognosis and follow-up of, 268
patient education on, 753 risk factors for, 265
patient story of, 752, 752f End-of-life care. See Palliative care, pediatric
prevention and screening for, 753 End-of-life symptoms, 26, 27t
prognosis and follow-up of, 753 EN syndromes, 831, 832
risk factors for, 752 Entamoeba histolytica gastrointestinal infections, 1040–1045. See also Parasitic
Eczema vaccinatum, with atopic dermatitis, 738, 738f gastrointestinal infections
Edema. See alsoAngioedema; Lymphedema Enterobacter necrotizing fasciitis, 619
facial, in nephrotic syndrome, 431, 431f, 432f Enterobius vermicularis gastrointestinal infections, 1040–1045, 1041f.
lymphedema, in Turner syndrome, 1279, 1279f, 1280, See also Parasitic gastrointestinal infections
1280f Enterococcus bacterial endocarditis, 264
myxedema, in hypothyroidism, 1118f Enterotoxigenic E. coli gastroenteritis, 1038–1040
papilledema, headache from, 1173f Enterovirus
pulmonary, in nephrotic syndrome, 432, 433f congenital, 1091–1096, 1093f (See also Congenital and perinatal
Ehlers-Danlos syndromes, 1289–1292 infections)
diagnosis of, 1289f–1291f, 1290–1291 hand foot mouth syndrome from, 648–649
differential diagnosis of, 1291 Enthesitis related arthritis (ERA), 992. See also Juvenile idiopathic
epidemiology of, 1289 arthritis
etiology and pathophysiology of, 1289–1290 Eosinophilic esophagitis (EoE)
fundamentals of, 1289 diagnosis of, 349f, 350, 350f
management of, 1291–1292 differential diagnosis of, 350–351
patient story of, 1289, 1289f epidemiology of, 350
prognosis and follow-up of, 1292 etiology and pathophysiology of, 350
Ehrlichiosis, 1099–1105 fundamentals of, 349–350
diagnosis of, 1102, 1102f management of, 351
epidemiology of, 1099–1100, 1099t, 1101f patient education on, 352
management of, 1105 prevention and screening for, 351
patient education on, 1105 prognosis in, 351
prevention and screening for, 1105 risk factors for, 350
prognosis in, 1105 Eosinophilic gastroenteritis. See Eosinophilic esophagitis (EoE)
risk factors for, 1100 Eosinophilic granuloma of the bone, 770, 770f, 1233–1235. See also
El n facies syndrome, heart disease with, 284–285, 284f Langerhans cell histiocytosis
Emesis. See also speci c disorders Epiblepharon, congenital, 94, 94f
newborn, 16 Epicanthial folds, in Down syndrome, 1274, 1274f, 1275,
EM major, 867–872. See also Stevens-Johnson syndrome 1276f
EM minor, 867–872. See also Erythema multiforme Epidermal hematoma, 1180, 1180f
Emphysema, congenital lobar, 330–332, 330f Epidermal inclusion cyst, 614, 615f
Enamel fracture, 229–230, 230f Epidermal nevi, 820, 831–835. See also Nevi, epidermal
Encephalofacial angiomatosis. See Sturge-Weber syndrome Epidermolysis bullosa, 895, 895f, 904–906, 904f, 905f
Encephalopathy, Hashimoto’s, 1120 Epidermolysis bullosa simplex, 904–906, 904f
Encephalotrigeminal angiomatosis. See Sturge-Weber syndrome Epidermolytic hyperkeratosis, 982–986. See also Ichthyosis
Encephalotrigeminal hemangiomatosis, 95, 95f Epidermolytic ichthyosis, 982–986. See also Ichthyosis
Endocarditis, bacterial, 264–268 diagnosis of, 984
diagnosis of, 265–267 differential diagnosis of, 985
clinical features in, 264f–266f, 265–266 epidemiology of, 982
criteria in, 264f–266f, 265 etiology and pathophysiology of, 983
distribution in, typical, 266 follow-up of, 986
imaging in, 267, 267f management of, 985–986
Janeway lesions in, 265, 265f, 266, 266f patient education on, 986
1341
INDEX
Epidermophyton occosum diagnosis of, 557f, 558
tinea cruris from, 708 differential diagnosis of, 558–559
tinea pedis from, 712 epidemiology of, 557
Epidermophyton tinea corporis, 703 etiology and pathophysiology of, 558
Epidural abscess, from sinusitis, 164t management of, 559
Epiglottitis, in acute upper airway obstruction, 184t, 185f patient education on, 560
Epiloia, 1186–1191. See alsoTuberous sclerosis prognosis in, 560
Epiphora, 92. See also Nasolacrimal duct obstruction, neonatal Erythrasma, 606–608
congenital glaucoma with, 94, 94f, 95f diagnosis of, 606–607, 606f, 607f, 709, 710f
epidemiology of, 92, 92f differential diagnosis of, 607
Episodic tension-type headache, 1172–1175. See also Headache epidemiology, etiology and pathophysiology of, 606, 606f
Epstein Barr virus (EBV) infections, 1068–1072 management of, 607–608
diagnosis of, 1068f–1071f, 1069–1071 patient education on, 608
differential diagnosis of, 1071 patient story of, 606, 606f
etiology and pathophysiology of, 1068 prognosis and follow-up of, 608
fundamentals of, 1068 risk factors for, 606
management of, 1071–1072, 1071f Erythroderma, in toxic shock syndrome, 1074, 1074f
patient education on, 1072 Erythrodermic psoriasis. See also Psoriasis
patient story of, 1068, 1068f diagnosis of, 775, 776f, 778
prevention of, 1072 management of, 783
prognosis and follow-up of, 1072 Escherichia coli gastroenteritis, 1038–1040
risk factors for, 1068 Escherichia coli O157:H7 gastroenteritis, 1038–1040
Epulis, congenital, 210t, 211f Esophageal disorders
Erosive diaper dermatitis, 573, 573f differential diagnosis of, 350–351
Erysipelas, 609, 611f. See also Cellulitis epidemiology of, 350
necrotizing, 619–622 (See also Necrotizing fasciitis) etiology and pathophysiology of, 350
Erythema, palmar, in toxic shock syndrome, 1075, 1076f fundamentals of, 349–350
Erythema ab igne management of, 351
differential diagnosis of, 962–963, 962f patient education on, 352
epidemiology of, 959 patient stories of, 349, 349f
Erythema dyschromicum perstans, 963, 963f, 964f prevention and screening for, 351
Erythema infectiosum, 644–646, 644f, 645f prognosis in, 351
Erythema marginatum, in acute rheumatic fever, 269, 270f risk factors for, 350
Erythema migrans, in Lyme disease, 1063f, 1064, 1064f. See also Lyme Esophageal foreign body, in acute upper airway obstruction, 184t, 185f
disease Esotropia
Erythema multiforme, 867–872, 885 accommodative, 99, 100f
diagnosis of, 868f, 869–871, 869f, 888, 888f congenital/ infantile, 98, 98f
differential diagnosis of, 763, 764f, 871 Ethmoidal sinusitis, orbital cellulitis from, 119–122, 119f, 121f.
epidemiology of, 867–868, 872 See also Orbital cellulitis
etiology and pathophysiology of, 867f, 868–869 EV71 enterovirus hand foot mouth syndrome, 648
fundamentals of, 867 Evidence-based medicine (EBM), 1320–1322
management of, 871 absolute risk reduction in, 1320
patient education on, 872 history of, 1320
prognosis and follow-up of, 872 likelihood ratio in, 1320–1322
Erythema nodosum, 873–876 number needed to treat in, 1320, 1321f
diagnosis of, 873f, 874–875 relative risk reduction in, 1320
differential diagnosis of, 875, 875f Strength of Recommendation Taxonomy in, 1320, 1321f, 1322f
epidemiology of, 873 Exophthalmos, in hyperthyroidism, 1123, 1123f, 1125, 1125f
from Epstein Barr virus, 1069, 1069f Exotropia, 98–103, 100f. See also Strabismus
etiology and pathophysiology of, 873–874, 873f Extensive myelination of nerve ber layer, 106t, 111f
fundamentals of, 873 Extremely low birth weight, 12
in latent TB infection, 1081, 1081f (See alsoTuberculosis (TB)) Eyelid ecchymosis, 124f
management of, 875–876 Eyes, widely spaced, in Noonan syndrome, 1298f, 1299, 1299f
patient education on, 876 Eye trauma (hyphema), 123–125. See also Hyphema
patient story of, 873, 873f
prevention of, 876 F
prognosis and follow-up of, 876 Facial angio bromas, in tuberous sclerosis, 1187, 1187f
risk factors for, 873f, 874 Facial dysmorphic features, in neonatal cholestasis, 388, 389f
in sarcoidosis, 861, 862 Facial edema, in nephrotic syndrome, 431, 431f, 432f
Erythema nodosum leprosum, 875, 875f Facial hemangiomas, 1199–1200, 1200f
Erythematotelangiectatic rosacea, 585, 585f. See also Rosacea Facial nerve palsy, 1176–1177, 1176f
Erythema toxicum neonatorum, 556–560 Facial paralysis, idiopathic, 1176–1177, 1176f
1342
INDEX
Failure to thrive, 342–348 fundamentals of, 644
from child abuse, 68 management of, 646
vs. child abuse, 69 patient education on, 646
diagnosis of patient story of, 644, 644f
clinical features in, 345–346, 345f, 345t, 346t prevention of, 646
imaging in, 347 prognosis of, 646
laboratory testing in, 346–347 risk factors for, 645
differential diagnosis of, 347 Fifth metatarsal (tuberosity) fracture, 522–525, 522f
epidemiology of, 342 Filiform warts, 667, 667f, 668f
etiology and pathophysiology of, 342–345 First cleft anomaly, 213t, 214f
caloric absorption in, inadequate, 342–343 Fissure, anal, 397–398, 397f
caloric intake in, inadequate, 342, 343f, 344f Fissured tongue, 223, 223f
caloric needs in, increased, 343–345, 344f Fistula in ano, 398–401
fundamentals of, 342 diagnosis of, 399, 400f
from glycogen storage disease, 344, 344f differential diagnosis of, 400
management of, 347 etiology and pathophysiology of, 399
patient education on, 348 fundamentals and epidemiology of, 399
patient story of, 342, 342f management of, 400, 400f
prevention and screening for, 347 patient education on, 401
prognosis and follow-up of, 347 prevention and screening in, 400
risk factors for, 345 prognosis and follow-up of, 400
Familial atypical mole and melanoma (FAMM) syndrome, 838 5 As, 1317
Familial cold auto-in ammatory syndrome. See Cryopyrin associated periodic Fixed drug eruptions, 884–891, 885f–887f. See also Drug reactions, cutaneous
syndromes (CAPS) Flat feet, in Marfan syndrome, 1284, 1285f, 1286
Familial dysautonomia, corneal ulcer in, 95, 95f Flat warts, 672–674, 672f, 673f
Familial Mediterranean fever (FMF), 1018–1022 Flesh-eating bacteria, 619–622. See also Necrotizing fasciitis
diagnosis of, 1019 Fluorescein, for corneal foreign body/ abrasion, 82, 82f
differential diagnosis of, 1020–1021 Fluoride, for early childhood caries, 227, 227f, 227t
epidemiology of, 1019 Focal segmental glomerulosclerosis, 432, 433f
etiology and pathophysiology of, 1019, 1020f Folic acid de ciency, 403, 404t
follow-up of, 1021–1022 Follicular lichen planus, 792, 793f. See also Lichen planus
fundamentals of, 1018 Folliculitis, 598–602
management of, 1021 diagnosis of, 601
patient education on, 1022 differential diagnosis of, 601, 601f
prognosis in, 1021 epidemiology of, 598, 598f, 599f
Family-centered care, 8–11 etiology and pathophysiology of, 598–601, 598f–600f
core principles of, 9 acne keloidalis nuchae, 599, 599f
de nition of, 8 actinic super cial, 601
history and introduction to, 9 bacterial or Staphylococcus, 598f, 599, 599f
implementation of, recommendations for, 9–10 folliculitis decalvans, 599, 600f, 601f
patient story in, 8, 8f fungal (Pityrosporum), 600, 600f
Family-oriented care, 7 gram-negative, 600
FAMM syndrome, 838 parasitic (mite), 599
Fasciitis, necrotizing, 619–622. See also Necrotizing fasciitis pseudofolliculitis barbae, 598f, 600
Fatal granulomatosis of childhood, 1267–1270. See also Chronic Pseudomonal (hot tub), 598, 598f, 600, 600f
granulomatous disease tufted, 599, 600f
Felon, 613, 614f viral (herpes, molluscum contagiosum), 600–601
Ferritin, 1210 follow-up of, 602
Fetal alcohol syndrome, 218t, 1246, 1247f fundamentals of, 598
Fetal circulation, intrauterine, 12, 13f management of, 601–602
Fetal vasculature, persistent, 105t patient education on, 602
Fibrillin-1 (FBN1), in Marfan syndrome, 1283 patient story of, 598, 598f
Fibroadenoma, adolescent, 494–497, 494f, 496f Folliculitis decalvans, 599, 600f, 601f
Fibrocystic changes, breast, 494 Food impaction, 363
Fibrocystic disease of the pancreas. See Cystic brosis Forchheimer spots, 172
Fibroma Forearm fractures, 516–521
gingival, 237, 237f classi cation of
ungual and periungual, in tuberous sclerosis, 1187, 1188f for radius fractures, 521t
Fifth disease, 644–646 Saltar-Harris, 518, 518f
diagnosis of, 644f, 645–646, 645f diagnosis of
differential diagnosis of, 646 buckle (torus) fracture in, 516f–518f, 518
epidemiology of, 644 clinical features in, 517f
etiology and pathophysiology of, 644–645, 645f Galeazzi fracture in, 518
1343
INDEX
greenstick fractures in, 518, 519f Fragmented “helmet” cells, in hemolytic uremic syndrome,
Monteggia fracture in, 518, 520f 438, 438f
physeal fractures in, 518, 518f Fragrances, contact dermatitis from, 746, 747f
radius and ulna fractures in, complex, 518, 518f, 520f Freckles, inguinal, in neuro bromatosis, 1192, 1192f, 1193, 1195f
radius fracture in, distal, 516f, 517f, 519f French method, for club feet, 527
radius fracture in, midshaft, 517f Frontal bone osteomyelitis, from sinusitis, 164t, 167f
types of fractures in, 516f–518f, 518, 518f–520f Frontal bossing, forehead, in sickle cell disease, 1221, 1221f
ulnar fracture in, 518f Functional hypogonadotrophic hypogonadism (FHH), 1151. See also Puberty,
differential diagnosis of, 518–519 delayed
epidemiology of, 516 Fungal infections, 687–692. See also speci c types and locations
etiology and pathophysiology of, 516–517 diagnosis of, 689–691, 689f–692f, 689t
fundamentals of, 516 fundamentals of, 687
management of, 519–521 management of, 691–692, 692t
patient education on, 521 nail, 934–938 (See also Onychomycosis)
patient story of, 516, 516f pathophysiology of, 687–689, 687f–689f
prevention of, 521 patient story of, 687, 687f
prognosis and follow-up of, 521 stains for, 690, 690f–692f
risk factors for, 517 Fungal sinusitis, invasive, 160f, 169. See also Sinusitis complications
Foregut duplication cyst, 328–329, 328f Fusobacterium sinusitis, 163
Forehead frontal bossing, in sickle cell disease, 1221, 1221f
Foreign body, ear, 150–152 G
ant, 150, 151f Galeazzi fracture, 518. See also Forearm fractures
bead, 150, 150f Galeazzi sign, 530, 530f, 531
crayon piece, 150, 150f Gangrene, hospital, 619–622. See also Necrotizing fasciitis
differential diagnosis of, 151 Gardnerella vaginalis
sand, beach, 150, 150f bacterial vaginosis from, 476–479
Foreign body, esophageal, in acute upper airway obstruction, 150–152 vaginitis from, 464–467, 464f
Foreign body, eye Garment nevus, 824–830. See also Nevi, congenital
conjunctival, conjunctivitis from, 86–87, 87f Gastric ulcers, in peptic ulcer disease, 353–357. See also Peptic ulcer disease
corneal, 82–84 (See also Corneal foreign body/ abrasion) (PUD)
Foreign body ingestion, 359–364 Gastroenteritis, bacterial and viral, 1038–1040, 1038f
diagnosis of, 359f–362f, 361–362 diagnosis of, 1039
differential diagnosis of, 362 differential diagnosis of, 1039
epidemiology of, 359 epidemiology of, 1038
etiology and pathophysiology of, 359–360, 359f, 360f etiology and pathophysiology of, 1038
follow-up of, 364 fundamentals of, 1038
fundamentals of, 359 management of, 1039–1040
management of, 362–363 patient education on, 1040
for battery ingestions, 360f, 361f, 362 patient story of, 1038, 1038f
for food impaction, 363 prevention and screening for, 1040
for magnets, 362f, 363 prognosis and follow-up of, 1040
medications in, 363–364 risk factors for, 1039
for non–radio-opaque foreign bodies, 363, 363f Gastroesophageal re ux disease (GERD)
referral in, 364 diagnosis of, 349f, 350
for sharp foreign bodies, 362–363, 363f differential diagnosis of, 350–351
surgery in, 364 epidemiology of, 350
prevention and screening for, 364 fundamentals of, 349
prognosis in, 364 management of, 351
risk factors for, 360–361 patient education on, 352
45, XO karyotype, 1279–1282. See alsoTurner syndrome patient story of, 349, 349f
45X syndrome, heart disease with, 281–283, 282f prevention and screening for, 351
4 As, 1317 prognosis in, 351
Fournier gangrene, 619. See also Necrotizing fasciitis risk factors for, 350
Fourth cleft anomaly, 213t Gastrointestinal atresia, in Down syndrome, 1274, 1274f,
Fractures 1276
from child abuse Gastrointestinal infections, 1038–1045. See also speci c types
clinical features of, 66f, 67f, 68 gastroenteritis, bacterial and viral, 1038–1040, 1038f
follow-up for, 70 parasitic, 1040–1045, 1041f–1043f
patient stories on, 66, 66f, 67f Gastroschisis, 458–460, 458f, 459f
vs. child abuse, 69 Genital herpes, 654, 654f, 655, 657. See also Herpes simplex virus (HSV)
Fragile bones, in osteogenesis imperfecta, 1293–1297. See also Osteogenesis infection
imperfecta (congenita) Genital warts, 676–681. See alsoWarts, genital
1344
INDEX
Genodermatoses, 968–974. See also speci c types Mycobacterium in
Darier disease, 968–970 leprosy, 56–59, 57f, 58f
fundamentals of, 968 tuberculosis and HIV, 59–61, 59f, 60f
pachyonychia congenita, 971–974, 971f–973f peer-to-peer adult education in, 43
pseudoxanthoma elasticum, 974, 974f Peru Health Outreach Project in, 32–34, 33f, 34f
xeroderma pigmentosum, 974, 974f skin diseases in, infectious, 55–56, 55f–57f
Geographic stomatitis, 222–224. See also Geographic tongue trust in local health care providers in, 43, 43f
Geographic tongue, 222–224 typhoid fever in, 44–45
diagnosis of, 222–223, 222f vector borne diseases in, 50–54
differential diagnosis of, 223 leishmaniasis, 52–54, 53f, 54f
vs. ssured tongue, 223, 223f malaria, 50–52, 51f
epidemiology of, 222 prevention of, 54
etiology and pathophysiology of, 222 prognosis in, 54
follow-up of, 223–224 water and sanitation in, 43, 44f, 46f
fundamentals of, 222 preventing contaminated-water–borne diseases in, 46, 46f
management of, 223, 223f, 224f Glomerulonephritis
patient education on, 224 diagnosis of, 413
patient story of, 222, 222f management of, 413
persistent and painful, 223, 224f membranoproliferative, 436, 437f
Geosmithia fungus, 1269f poststreptococcal, 436, 436f, 437f
Gianotti-Crosti syndrome, 907, 907f Glomerulosclerosis, focal segmental, 432, 433f
from Epstein Barr virus, 1069, 1069f Gluten(-sensitive) enteropathy, 382–386. See also Celiac disease
Giant-cell granuloma, juvenile, 803–806. See also Juvenile xanthogranuloma dermatitis herpetiformis from, 384, 384f, 908–909, 908f, 909f
Giant hairy nevus, 824–830. See also Nevi, congenital Glycogen storage disease, hepatomegaly and growth failure in, 344, 344f
Giant papillary conjunctivitis, 86, 87f Goals, 4
Giant pigmented nevus. See Nevi, congenital Goiter, 1116–1121
Giant urticaria, 763f, 764f, 871, 871f. See also Urticaria diagnosis of, 1117f, 1118–1119, 1119f
from sulfa drugs, 884, 885f (See also Drug reactions, cutaneous) differential diagnosis of, 1119
Giardia lamblia (intestinalis) gastrointestinal infections, 1040–1045, 1043f. epidemiology of, 116, 117f
See also Parasitic gastrointestinal infections etiology and pathophysiology of, 1117, 1117f
Gingival disease, 234–235, 234f follow-up of, 1120–1121
Gingival broma, 237, 237f fundamentals of, 1116
Gingivitis, 234–235, 234f iodine de ciency, 50, 50f
Gingivostomatitis, herpes simplex virus, 239–241, 653–659. See also Herpes management of, 1119–1120
simplex virus (HSV) infection prevention and screening for, 1120
diagnosis of, 239–241, 240f, 659f prognosis in, 1120
differential diagnosis of, 241, 241f risk factors for, 1117
vs. Stevens-Johnson syndrome, 241, 241f Goldenhar syndrome, 128, 217f, 218t
epidemiology of, 239, 653f, 654 Gonadal dysgenesis, 1279–1282. See alsoTurner syndrome
etiology and pathophysiology of, 239 Gonococcal conjunctivitis, 85–88, 86f
fundamentals of, 239 neonatal, 454–456, 454f, 455f
management of, 241 Gonococcal infections, 1046–1048
patient education on, 241 diagnosis of, 1046–1047, 1046f, 1047f
patient story of, 239, 239f, 653, 653f differential diagnosis of, 1047
prognosis in, 241 epidemiology of, 1046
risk factors for, 239 etiology and pathophysiology of, 1046
Glaucoma, congenital fundamentals of, 1046
with epiphora, 94, 94f, 95f management of, 1047–1048
vs. neonatal nasolacrimal duct obstruction, 94, 94f, 95f patient education on, 1048
Global health, 42–61 patient story of, 1046, 1046f
behavioral changes in, long-term, 43 prevention of, 1048
cholera in, 45–46, 46f prognosis and follow-up of, 1048
Common River community story in, 42, 42f Gottron papules, in juvenile dermatomyositis, 1003, 1003f, 1004,
de nition of, 42–43 1005f–1007f, 1006, 1009
epidemiology of, 43 Gower sign
ethical dilemmas in, 43, 43f in Duchenne muscular dystrophy, 1202, 1202f–1203f, 1205
eye diseases in, trachoma, 54–55, 54f, 55f in juvenile dermatomyositis, 1006, 1202f–1203f
vs. international health, 42–43 Granular casts, 412, 412f
intestinal parasites in, 46, 46f Granuloma
kwashiorkor in, 46–48, 47f, 48f in common variable immunode ciency, 1255, 1256f
malnutrition in, 46–48, 47f, 48f juvenile giant-cell, 803–806 (See also Juvenile xanthogranuloma)
marasmus in, 46–48, 47f, 56f noncaseating
1345
INDEX
in common variable immunode ciency, 1255, 1256f HAIR-AN syndrome, 1112, 1112f
in Crohn’s disease, 377, 379f Half-and-half nails, 922, 923f, 923t
from piercing and tattoos, 499, 499f, 501, 501f Haller cells, in allergic rhinitis, 1240
pyogenic, 812–816, 847, 847f (See also Pyogenic granuloma) Hallucinogens, 1315, 1315f
in tuberculosis, 1087, 1088f Halo nevi, 817, 817f, 818
Granuloma annulare, 705, 706f, 851–854 Hand foot mouth syndrome, 648–651
diagnosis of, 851–852, 851f–853f diagnosis of, 648f–651f, 649–650
differential diagnosis of, 852–853 differential diagnosis of, 650–651
epidemiology, etiology and pathophysiology of, 851 epidemiology of, 648
fundamentals of, 851 etiology and pathophysiology of, 648–649
management of, 854 fundamentals of, 648
patient education on, 854 management of, 651
patient story of, 851, 851f patient education on, 651
prognosis and follow-up of, 854 patient story of, 648, 648f
risk factors for, 851 prevention of, 651
Granuloma gluteale infantum, 573, 573f prognosis of, 651
Granulomatosis risk factors for, 649
chronic familial, 1267–1270 (See also Chronic granulomatous disease) Hand-foot syndrome, in sickle cell disease, 1220, 1220f
juvenile systemic, 861–865 (See also Sarcoidosis, pediatric) Hand-Schuller-Christian Disease, 770, 770f, 1233–1235. See also Langerhans
septic progressive, 1267–1270 (See also Chronic granulomatous disease) cell histiocytosis
Granulomatous disease, chronic, 1267–1270. See also Chronic granulomatous Hansen disease, 56–59, 57f, 58f
disease Haploinsuf ciency of the X chromosome, 1279–1282. See alsoTurner
Granulomatous sarcoidosis of the skin, 864, 864f syndrome
Graves disease, 1123–1127. See also Hyperthyroidism Harlequin color changes, 559
Greenstick fractures. See also Forearm fractures Hashimoto-Pritzker disease, 770, 770f, 1233–1235. See also Langerhans cell
diagnosis of, 518, 519f histiocytosis
management of, 521 Hashimoto’s encephalopathy, 1120
Grief, from child death, 25, 25f Hashimoto thyroiditis, 1116–1121
Group A β-hemolytic streptococcus (GABHS) de nition of, 1116
cellulitis from, 609, 610f diagnosis of, 1119
impetigo from, 593 epidemiology of, 1116
pharyngitis from, 175, 176, 176f etiology and pathophysiology of, 1117
Group A streptococcus (GAS) follow-up of, 1121
necrotizing fasciitis from, 619 management of, 1119–1120
scarlet fever and strawberry tongue from, 171–172 painful, 1119
Group A streptococcus (GAS) toxic shock syndrome, 1074–1078, 1075f, prognosis in, 1120
1076t, 1077f. See alsoToxic shock syndromes Hay fever, 1238–1242. See also Rhinitis, allergic
Group B streptococcus (GBS), congenital and perinatal, 1091–1096. See also Headache, 1172–1175
Congenital and perinatal infections diagnosis of, 1172–1173, 1173f
Growth failure. See Failure to thrive differential diagnosis of, 1174
Growth plate injuries, 516–521. See also Forearm fractures epidemiology of, 1172
diagnosis of, 518, 518f etiology and pathophysiology of, 1172
management of, 519–521 management of, 1174
Gum disease, 234–235, 234f patient education on, 1175
Guttate psoriasis. See also Psoriasis patient story of, 1172, 1172f
diagnosis of, 774, 775f, 777–778, 777f, 778f prevention of, 1174
risk factors for, 1172
H Head and neck congenital anomalies. See Congenital anomalies, head and
Habit-tic deformity, 920, 920f, 921f, 922 neck
HACEK group, bacterial endocarditis from, 264–265 Head and neck masses, 195–198
Haddad’s syndrome, 1225 branchial cleft cyst, 196, 196f, 197f
Haemophilus ducreyi chancroid, 471–473, 471f cystic lymphangioma, 196, 197f
Haemophilus in uenzae diagnosis of, 195–196, 195f, 196f
acute otitis media from, 137 differential diagnosis of, 196–197
community-acquired pneumonia from, 307–308 epidemiology of, 195
conjunctivitis from, 85–88 etiology and pathophysiology of, 195
in cystic brosis patients, 319 follow-up of, 198
sinusitis from, 156, 163 fundamentals of, 195
Haemophilus vaginalis, 476–479 hemangioma, 197, 197f
Haemophilus vaginitis, 476–479 management of, 197–198
Hailey-Hailey disease, 901–902, 901f patient story of, 195, 195f
1346
INDEX
Head and neck masses (Continued) Hemoglobin SS disease, 1219. See also Sickle cell disease
prognosis in, 198 Hemolytic uremic syndrome (HUS), 438–442
risk factors for, 195 diagnosis of
thyroglossal duct cyst, 195–198, 195f, 196f clinical features in, 439, 439f
venous malformation, 197, 197f laboratory testing for, 438f, 440, 440t, 441t
Head lice, 721–725, 722f, 723f. See also Lice differential diagnosis of, 441
HEADSS, 72 epidemiology of, 438
Health care-associated pneumonia, 307 etiology and pathophysiology of, 438–439, 439t
Hearing screen, newborn, 17 fundamentals of, 438
Heart block management of, 441–442
complete, 276–278, 276f–278f patient story of, 438, 438f
in rheumatic fever, acute, 270, 270f prevention and screening for, 442
Heartburn. See Gastroesophageal re ux disease (GERD) prognosis in, 442
Heart disease, congenital. See Congenital heart disease risk factors for, 439
Heart disease, syndromes with, 280–288 Hemorrhagic disease of the newborn, hemorrhagic stroke from, 1182–1184,
DiGeorge syndrome, 283–284, 283f 1183f
Down syndrome, 280–281, 280f, 281f Hemorrhagic stroke, 1180, 1180f, 1182–1184, 1183f
Marfan syndrome, 286–288, 286f, 287f Henoch-Schönlein purpura, 877–882, 1012–1016. See alsoVasculitis
Turner syndrome, 281–283, 282f diagnosis of, 1012f, 1013–1015, 1014f, 1015f
Williams syndrome, 284–285, 284f differential diagnosis of, 764, 765f, 880–882, 1015, 1015f
Heat rash, 558, 559f epidemiology of, 1012–1013
Helicobacter pylori peptic ulcer disease, 353, 353f, 354, 354f etiology and pathophysiology of, 1013
Heliotrope rash, in juvenile dermatomyositis, 1003, 1003f, 1004, 1005, fundamentals of, 1012
1005f, 1006 management of, 1015–1016
“Helmet” cells, fragmented, in hemolytic uremic syndrome, 438, 438f patient education on, 882, 1016
Hemangiomas, childhood, 561–565 patient story of, 1012, 1012f
cherry, 814–815, 815f prevention and screening for, 1016
choroidal, in Sturge-Weber syndrome, 1199, 1199f prognosis and follow-up of, 882, 1016
congenital, 216 risk factors for, 879, 1012f, 1013
diagnosis of, 561f, 562–563, 562f, 979 Hepatitis B surface antigen, maternal, in newborn, 16
differential diagnosis of, 563, 563f Hepatitis B vaccination, of newborn, 17
vs. salmon patch, 563, 563f Hepatomegaly, in glycogen storage disease, 344, 344f
vs. Sturge-Weber syndrome, 1199–1200, 1200f Hepatosplenomegaly, failure to thrive with, 344, 344f
vs. thyroglossal duct cyst, 197, 197f Herald patch, in pityriasis rosea, 787, 787f
epidemiology of, 561 Hereditary collagen dysplasia, 1289–1292. See also Ehlers-Danlos syndromes
etiology and pathophysiology of, 561–562, 562f Hereditary hemorrhagic telangiectasias (HHT)
follow-up of, 565 diagnosis of, 977f, 978, 979
fundamentals of, 561 epidemiology of, 977, 977f
head and neck, 197, 197f etiology and pathophysiology of, 977, 977f
lobular capillary, 812–816 follow-up of, 981
management of, 563–565, 564f, 565f management of, 980
patient education on, 565 Hereditary hypophosphatemic rickets with hypercalciuria, 1157. See also
patient story of, 561, 561f Rickets
in PHACE syndrome, 979, 980f, 1302–1307, 1302f–1307f Heroin, black tar, 1315, 1315f
Hematoma Herpangina
epidermal, 1180, 1180f vs. aphthous ulcer, 179f, 245
subdural, 1179–1181 (See also Subdural hematoma) vs. upper respiratory infection, 179, 179f
subgaleal, from child abuse, 69, 69f Herpes simplex virus 1 (HSV-1), 468, 655
subungual, 948–950 (See also Subungual hematoma) from child abuse, 74
Hematuria erythema multiforme from, 868, 868f
diagnosis of, 412–413 Herpes simplex virus 2 (HSV-2), 655
glomerular gross, 435, 435f (See also Nephritic syndromes) erythema multiforme from, 868, 868f
from kidney stones, 444–446 Herpes simplex virus (HSV) gingivostomatitis, 239–241, 653–659, 653f,
management of, 413 659f. See also Gingivostomatitis, herpes simplex
in nephritic syndromes, 435, 435f, 436f Herpes simplex virus (HSV) infection, 653–659
patient story of, 410, 410f congenital and perinatal, 1091–1096, 1091f, 1093f (See also Congenital
Hemoglobin C, 1219 and perinatal infections)
Hemoglobin S, 1219 diagnosis of, 656–657, 656f
Hemoglobin S β-thalassemia. See Sickle cell disease differential diagnosis of, 657–658
Hemoglobin S β-thalassemia null, 1222 eczema herpeticum from, 738, 738f, 752–754 (See also Eczema
Hemoglobin S β-thalassemia plus, 1222 herpeticum)
Hemoglobin SC disease, 1222. See also Sickle cell disease epidemiology of, 653f–655f, 654
1347
INDEX
erythema multiforme from, 868, 868f fundamentals of, 78
etiology and pathophysiology of, 654–656, 655f, 657f management of, 79–80
folliculitis from, 600–601 patient education on, 80
follow-up of, 659 patient story of, 78, 78f
fundamentals of, 653–654 prevention of, 80
with HIV, 1058, 1059f prognosis and follow-up for, 80
management of, 658–659, 658t, 659f risk factors for, 79
neonatal (maternal-fetal transmission), 655–656, 656f, 657 Horner’s syndrome, neuroblastoma in, 1226, 1226f
patient education on, 659 Hospital gangrene, 619–622. See also Necrotizing fasciitis
patient story of, 653, 653f Hot tub folliculitis, 598, 598f, 600, 600f
periorbital cellulitis from, 115–117, 116f Human immunode ciency virus (HIV) infection, 1057–1061
prevention of, 658t, 659 from child sexual abuse, 74, 76
risk factors for, 656 common warts in, 667, 667f
upper respiratory infections from, 175 diagnosis of, 1058–1059, 1058f–1060f
vaginitis from, 464–467 epidemiology of, 1057
vulvar, 468–469, 468f etiology and pathophysiology of, 1057–1058, 1058f
Herpes zoster, 631–633 fundamentals of, 1057
diagnosis of, 631f–633f, 632–633 management of, 1059–1060
differential diagnosis of, 633 molluscum contagiosum in, 661, 662f
epidemiology of, 631 patient education on, 1061
etiology and pathophysiology of, 631–632, 632f patient story of, 1057, 1057f
follow-up and patient education on, 633 prevention and screening of, 1060–1061, 1061t
patient story of, 631, 631f prophylaxis against, after child sexual abuse, 76
prevention of, 633 tuberculosis co-infection with, global, 59–61, 59f, 60f
risk factors for, 632 Humanitarian efforts, international, 34–36, 35f, 36f
Herpes zoster oticus, 631–632, 632f Human papillomavirus (HPV), 666
Herpetic keratitis, 86, 86f, 87f condyloma from, with HIV infection, 1057, 1057f
Herpetic whitlow, 654, 655, 655f. See also Herpes simplex virus (HSV) vaginitis from, 464–467
infection warts from (See also speci c types)
Herpetiformis, 908 common, 666–670
Hidradenitis suppurativa, 589–592 at, 672–674, 672f, 673f
diagnosis of, 589–590, 589f, 590f, 591f genital, 676–681, 676f, 678f
differential diagnosis of, 590 plantar, 672–674, 682–686
epidemiology of, 589 Humoral immune de ciency, 1253–1258. See also B cell immunode ciencies
etiology and pathophysiology of, 589 Hutchinson incisors, in syphilis, 1053f
follow-up of, 592 Hutchinson sign, 635, 635f, 636, 926, 927f, 927t
fundamentals of, 589 Hyaline casts, 411–412, 412f
management of, 590–591 Hydrocodone, xed drug eruption from, 885, 886f. See also Drug reactions,
patient education on, 592 cutaneous
patient story of, 589, 589f Hydrogen peroxide-producing Lactobacillus, 477
risk factors for, 589 Hydronephrosis, 416–422
Hilgenreiner’s line, 532, 532f diagnosis of
Hip, developmental dysplasia of, 17, 530–533. See also Developmental clinical features in, 417–418
dysplasia of hip diagnostic studies in, 418–419, 418f, 419f
Hirschsprung disease, 392–393, 392f laboratory studies in, 418
Hirsutism, in Cushing syndrome, 1144 differential diagnosis of, 419, 420f
Histiocytosis, benign cephalic, 805, 805f epidemiology of, 416
Histiocytosis X, 770, 770f, 1233–1235. See also Langerhans cell histiocytosis etiology and pathophysiology of, 416–417, 417f
Hives, 761–766. See also Urticaria follow-up of, 421–422
Hodes, Rich, 34–36, 35f, 36f fundamentals of, 416
Homeless, caring for, 38–40, 39f, 40f management of, 419–420, 420f, 421f
Hookworm infections patient story of, 416, 416f
cutaneous larva migrans from, 734–735, 734f, 735f prevention and screening for, 420–421
gastrointestinal, 1040–1045, 1041f, 1042f (See also Parasitic prognosis in, 421
gastrointestinal infections) risk factors for, 416
global health problem of, 46, 46f Hydroureteronephrosis, 416
Hordeolum, 78–80 Hymen
diagnosis of, 79, 79f in child sexual abuse, 72–75, 72f, 74f
differential diagnosis of, 79 normal, 72, 72f
epidemiology of, 78 Hyperbilirubinemia, neonatal conjugated, 387–391. See also Cholestasis,
etiology and pathophysiology of, 78, 78f, 79f neonatal
1348
INDEX
Hypergonadotrophic hypogonadism, 1161. See also Puberty, delayed prognosis and follow-up of, 882
Hyper IgE syndrome (HIES), 1259–1266, 1260t, 1261f, 1262f, 1265f risk factors for, 879
Hyper IgM syndrome, 1253–1258, 1259–1266, 1261t. See also B and T cell Hypertelorism, in Noonan syndrome, 1298f, 1299, 1299f
immunode ciencies; B cell immunode ciencies Hypertension, renovascular, 449–452
Hyper IgM syndrome AID de ciency, 1263t diagnosis of, 449–450, 449f, 450f
Hyperimmunoglobulin D syndrome (HIDS), 1018–1022 differential diagnosis of, 450
diagnosis of, 1019, 1021f epidemiology of, 449
differential diagnosis of, 1020–1021 etiology and pathophysiology of, 449
epidemiology of, 1019 management of
etiology and pathophysiology of, 1019 endovascular, 451, 451f
follow-up of, 1021–1022 medications in, 450
management of, 1021 referral in, 453
patient education on, 1022 surgery in, 452
prognosis in, 1021 patient story of, 449, 449f
Hyperlipidemia, 1129–1134 prognosis and follow-up of, 452
diagnosis of, 1131, 1131f, 1132t screening for, 452
epidemiology of, 1129 Hyperthyroidism, 1123–1127
etiology and pathophysiology of, 1130, 1130f diagnosis of
fundamentals of, 1129 clinical features in, 1123f, 1124–1125, 1125f
management of, 1132–1133 laboratory testing and imaging in, 1125
patient education on, 1134 differential diagnosis of, 1125
patient story of, 1129, 1129f epidemiology of, 1123–1124
prevention and screening for, 1133–1134 etiology and pathophysiology of, 1124
prognosis in, 1134 follow-up of, 1127
risk factors for, 1130–1131 fundamentals of, 1123
Hypermobile joints management of, 1126–1127
in Ehlers-Danlos syndrome, 1289, 1289f, 1290, 1290f patient education on, 1127
in Marfan syndrome, 1283, 1284f, 1286 patient story of, 1123, 1123f
ankle and wrist, 286, 286f prognosis in, 1127
Hyperpigmentation, segmental, 962, 962f risk factors for, 1124
Hyperpigmentation disorders, 958–966 Hypertrophic osteoarthropathy, 250–253. See also Clubbing
diagnosis of, 960–961 Hypertrophic scar
differential diagnosis of, 961–964 vs. keloids, 808
ashy dermatosis, 963, 963f, 964f management of, 809, 1325f
café au lait macules, 959f, 963, 963f Hypertrophy, in lichen planus, 791, 793f
vs. child abuse, 964 Hyphema, 123–125
con uent and reticulated papillomatosis, 961, 961f diagnosis of, 123, 123f, 124f
dermal melanocytosis, 960f, 963, 963f differential diagnosis of, 124
erythema ab igne, 962–963, 962f epidemiology of, 123
linear and whorled hypermelanosis, 962, 962f etiology and pathophysiology of, 123
nevus of Ota, 960f, 963–964, 964f fundamentals of, 123
segmental hyperpigmentation, 962, 962f management of, 124–125
vs. tinea versicolor, 961, 961f patient education on, 125
epidemiology of, 958–959, 958f, 959f patient story of, 123, 123f
etiology and pathophysiology of, 959–960, 960f prevention of, 125
fundamentals of, 958 prognosis and follow-up for, 125
management of, 964–965 Hypogammaglobulinemia, acquired, 1253–1258. See also B cell
patient education on, 965–966 immunode ciencies
patient story of, 958, 958f Hypoglycemia
prognosis and follow-up of, 965 newborn, 16
Hyperpigmentation plaques, in incontinentia pigmenti, 1309, 1310f newborn screening for, 15, 15f
Hyperplastic vitreous, persistent, 105t, 111f Hypomelanosis of Ito, 953, 954f
Hyperpronation reduction method, 509, 510f vs. incontinentia pigmenti, 1311, 1311f
Hypersensitivity reactions, 884–891. See also Drug reactions, cutaneous Hypomelanotic lesions, in tuberous sclerosis, 1186, 1186f, 1187
Hypersensitivity vasculitis (HSP), 877–882 Hypopigmentation, 951–956. See alsoVitiligo (vulgaris)
diagnosis of, 878f, 879–880, 879f Hypopyon, in uveitis, 90, 90f
differential diagnosis of, 880–882 Hypothermia, newborn, 15f, 16
epidemiology of, 877–878 Hypothyroidism, 1116–1121
etiology and pathophysiology of, 878–879 diagnosis of, 1117–1119, 1118f, 1119f
fundamentals of, 877 differential diagnosis of, 1119
management of, 882 epidemiology of, 1116–1117
patient education on, 882 etiology and pathophysiology of, 1117, 1117f
1349
INDEX
follow-up of, 1120–1121 Impetiginization, 595
fundamentals of, 1116 in atopic dermatitis, 595, 595f
management of, 1119–1120 Impetigo, 593–596
patient story of, 1116, 1116f diagnosis of, 593f–595f, 594
prevention and screening for, 1120 differential diagnosis and forms of, 595–596
prognosis in, 1120 atopic dermatitis, 595, 595f
risk factors for, 1117 bullous impetigo, 593f–596f, 895, 895f
Hypovitaminosis. See speci c types with MRSA, 593f, 594f, 596
Hypoxemia, 250–253. See also Cyanosis vs. scabies, 731, 731f
staphylococcal scalded skin syndrome, 596, 596f
I epidemiology of, 593
Ibuprofen etiology and pathophysiology of, 593
cutaneous hypersensitivity reactions to, 886, 886f follow-up and patient education on, 596
urticaria from, 764, 765f fundamentals of, 593
Ichthyosis, 982–986 as global health problem, 56, 56f, 57f
acquired, 985, 985f management of, 596
with atopic dermatitis, 739, 741f patient story of, 593, 593f
diagnosis of, 983–985 prevention of, 596
epidermolytic ichthyosis, 984 Impotent neutrophil syndrome, 1267–1270. See also Chronic granulomatous
ichthyosis vulgaris, 983, 983f disease
lamellar ichthyosis, 984–985, 985f Inclusion (chlamydial) conjunctivitis, 454–456, 455f
X-linked ichthyosis, 982f, 983–984, 984f Incontinentia pigmenti, 1308–1312
differential diagnosis of, 985 diagnosis of, 1308–1310, 1308f–1310f
epidemiology of, 982–983 differential diagnosis of, 1311
etiology and pathophysiology of, 983, 983f, 984f vs. diffuse cutaneous mastocytosis, 1311, 1311f
follow-up of, 986 vs. hypomelanosis of Ito, 1311, 1311f
fundamentals of, 982 epidemiology, etiology and pathophysiology of, 1308
management of, 985–986, 986f follow-up of, 1312
patient story of, 982, 982f management of, 1311
Ichthyosis hystrix, 1113 patient education on, 1312
Idiopathic facial paralysis, 1176–1177, 1176f patient story of, 1308, 1308f
Idiopathic thrombocytopenia purpura. See Immune thrombocytopenia prevention and screening for, 1311–1312
purpura prognosis in, 1312
IgA bullous dermatosis of childhood, 892–896. See also Chronic bullous risk factors for, 1308
disease of childhood Indeterminate colitis, 375–380. See also In ammatory bowel disease
IgA de ciency, 1253–1258. See also B cell immunode ciencies Infantile acropustulosis, 732, 732f
Ileum, normal terminal, 375f Infantile hemangiomas (angiomas), 561–565. See also Hemangiomas, childhood
Images Infantile lobar emphysema, 330–332, 330f
for diagnosis, 4t Infant mortality rate, 21
internal banks of, 3 Infarct, hemorrhagic, 1180, 1180f
internet sources for, 3, 4t Infectious mononucleosis, 1068–1072. See also Epstein Barr virus (EBV)
for patient–physician relationship, 3–4 infections
taking your own, 4 In ammasome, 1019, 1020f
Immotile cilia syndrome, 1249–1251. See also Primary ciliary dyskinesia In ammatory acne, 577, 577f. See alsoAcne vulgaris
Immune-mediated diabetes. See Diabetes In ammatory bowel disease, 375–380
Immune thrombocytopenia purpura, 1214–1217 diagnosis of
diagnosis of, 1214f–1216f, 1215–1216 clinical features in, 376, 376t
differential diagnosis of, 881, 882f, 1216 distribution in, 375f–377f, 376–377
epidemiology of, 1215 laboratory studies in, 377, 377f–379f
etiology and pathophysiology of, 1215 differential diagnosis of, 377–380
fundamentals of, 1215 epidemiology of, 375
management of, 1216–1217 etiology and pathophysiology of, 375
patient story of, 1214, 1214f management of, 378–379, 380t
prognosis and follow-up of, 1217 nutritional disorders in, 402t (See also Nutritional disorders)
Immunization patient education on, 380
hepatitis B, for newborn, 17 patient story of, 375, 375f
measles, 639, 642 peptic ulcer disease from, 353f, 354, 354f
small pox, eczema herpeticum from, 738, 738f prevention and screening for, 379–380
varicella, 629, 633 prognosis and follow-up of, 380
Imperforate anus, 394–395, 394f, 395f risk factors for, 375–376
1350
INDEX
In ammatory linear verrucous epidermal nevus (ILVEN), 831, 831f, 833. Inverse psoriasis. See also Psoriasis
See also Nevi, epidermal diagnosis of, 709, 710f, 775, 775f, 778
In uenza virus management of, 783
community-acquired pneumonia from, 307–308 Iodine de ciency, 50, 50f
sinusitis from, 156 Iridocyclitis, 85–88. See also Uveitis
Infraorbital fold, with atopic dermatitis, 739, 740f, 958, 958f Iris, melanotic hamartomas of, 1195, 1195f
Ingrown toenail, 930–932 Iritis, 89–91
diagnosis of, 930–931, 930f differential diagnosis of, 90
differential diagnosis of, 931 traumatic, 89, 89f
epidemiology, etiology and pathophysiology of, 930, 930f from zoster ophthalmicus, 635f, 636, 637
management of, 931–932, 931f, 932f Iron de ciency, 49–50, 403, 405t
patient education on, 932 koilonychia from, 402, 402f
patient story of, 930, 930f prevention and screening for, 407
prevention and follow-up of, 932 Iron de ciency anemia, 1210–1213
risk factors for, 930, 930f diagnosis of, 1210f, 1211–1212, 1211f
Inguinal freckles, in neuro bromatosis, 1192, 1192f, 1193, differential diagnosis of, 1212, 1212t
1195f epidemiology of, 1210
Injury. See also speci c types etiology and pathophysiology of, 1210
growth plate, 516–521 (See also Forearm fractures) fundamentals of, 1210
diagnosis of, 518, 518f management of, 1212–1213
management of, 519–521 patient education on, 1213
intracranial patient story of, 402, 402f, 1210, 1210f
from physical abuse, 68 prevention and screening for, 1213
vs. physical abuse, 69 prognosis and follow-up of, 1213
Lisfranc, 523, 523f risk factors for, 1211
from sexual abuse, 72–76 (See also Sexual abuse, child) Irritant contact dermatitis, 745. See also Contact dermatitis
tooth displacement, 230, 230f Irritant diaper dermatitis, 571–575. See also Diaper rash
unintentional, death from, 22 Irritation broma, 237, 237f
Insect bites, impetigo from, 596, 596f. See also Impetigo Ischemic stroke, 1182–1184, 1182f, 1183f
Insulin-dependent diabetes mellitus. See Diabetes Isolated gonadotropin de ciency, 1161. See also Puberty, delayed
Interferon γ release assay (IGRA), 1081, 1085, 1086t, 1087, Isolated third nerve palsy, 1177
1087t
International health, 42–43 J
International humanitarian efforts, 34–36, 35f, 36f Jagged line pattern prodrome, 1172, 1172f
Internet, images on, 3, 4t Janeway lesions, in bacterial endocarditis, 265, 265f, 266, 266f
Intertrigo Jaundice, newborn, 16
Candida, 694f, 695 (See also Candidiasis) phototherapy for, 16, 16f
in inguinal folds, 574, 574f Jervell and Lange-Nielson syndrome, 274–276, 274f, 275f
Intestinal worms and parasites Jock itch, 708–711. See alsoTinea cruris
global health problem of, 46, 46f Joints, hypermobile
water and sanitation in, 43, 44f, 46f in Ehlers-Danlos syndrome, 1289, 1289f, 1290, 1290f
Intracerebral abscess, from sinusitis, 164t in Marfan syndrome, 286, 286f, 1283, 1284f, 1286
Intracranial abscess, headache in, 1173f Jones fracture, 522–525, 522f, 523f
Intracranial bleeding, child abuse and, 68, 69 Junctional epidermolysis bullosa, 904–906, 905f
Intracranial injury Junctional nevi, 818, 818f
from physical abuse, 68 dysplastic nevi as, 837f, 838
vs. physical abuse, 69 Juvenile chronic arthritis, 990–993. See also Juvenile idiopathic arthritis
Intracranial tubers, in tuberous sclerosis, 1188, 1189f Juvenile dermatomyositis, 1003–1010
Intradermal melanocytic nevi, 818, 818f diagnosis of, 1004–1007
Intraoral soft tissue trauma, 230, 230f clinical features in, 1003f–1005f, 1005–1006
Intussusception, 370–373 distribution of, 1003f–1006f, 1006
diagnosis of, 370f, 371 ve criteria for, 1003f–1006f, 1004–1005
differential diagnosis of, 371 laboratory studies and diagnostic tests in, 1006–1007
epidemiology of, 370 differential diagnosis of, 1007–1008
etiology and pathophysiology of, 370–371 epidemiology of, 1003–1004
fundamentals of, 370 etiology and pathophysiology of, 1004
management of, 371–373, 372f–373f follow-up of, 1009–1010
patient education on, 373 fundamentals of, 1003, 1003f–1006f
patient story of, 370, 370f management of, 1008–1009
prognosis and follow-up of, 373 patient education on, 1010
risk factors for, 371, 371f patient story of, 1003, 1003f, 1004f
Invasive fungal sinusitis, 160f, 169 prognosis in, 1009
1351
INDEX
Juvenile early onset sarcoidosis, 861–865. See also Sarcoidosis, pediatric patient story of, 807, 807f
Juvenile giant-cell granuloma, 803–806. See also Juvenile xanthogranuloma prevention of, 810
Juvenile idiopathic arthritis, 990–993 prognosis and follow-up of, 810
diagnosis of, 990f, 991–992, 992f risk factors for, 808, 808f
differential diagnosis of, 993 Keratitis
epidemiology of, 990–991, 990f herpetic, 86, 86f, 87f
etiology and pathophysiology of, 991, 991f vs. conjunctivitis, 86, 86f, 87f
fundamentals of, 990, 990f zoster ophthalmicus, 635f, 636, 636f, 637
management of, 993 Keratoconus, with atopic dermatitis, 741, 742f
patient story of, 990, 990f Keratolysis, pitted, 603–605
prognosis in, 993 diagnosis of, 603, 603f, 604f
risk factors for, 991 differential diagnosis of, 603–604
Juvenile late onset sarcoidosis, 861–865. See also Sarcoidosis, pediatric epidemiology, etiology and pathophysiology of, 603
Juvenile-onset diabetes. See Diabetes follow-up of, 604
Juvenile plantar dermatosis, 713–714, 714f management of, 604, 604f
Juvenile rheumatoid arthritis, 990–993. See also Juvenile idiopathic arthritis patient education on, 604
Juvenile systemic granulomatosis, 861–865. See also Sarcoidosis, pediatric patient story of, 603, 603f
Juvenile systemic sclerosis, 1029–1035. See also Scleroderma Keratosis pilaris
Juvenile xanthogranuloma, 803–806 with atopic dermatitis, 739, 740f
diagnosis of, 803–804, 804f differential diagnosis of, 800, 800f, 801f
differential diagnosis of, 804–805, 804f, 805f Kerion, in tinea capitis, 697f, 698, 700, 701f
epidemiology of, 803 Kidneys, polycystic, 425–429. See also Polycystic kidneys
etiology and pathophysiology of, 803 Kidney stones, pediatric, 444–447
fundamentals of, 803 diagnosis of, 445–446, 446f
management of, 805 differential diagnosis of, 446
patient education on, 806 epidemiology of, 444–445
prognosis and follow-up of, 805 etiology and pathophysiology of, 445, 445f
Juvenile xanthoma, 803–806. See also Juvenile xanthogranuloma follow-up and patient education on, 447
fundamentals of, 444
K management of, 446–447
Kala-azar, 52–54, 53f, 54f patient story of, 444, 444f
Kaposi’s sarcoma, with HIV infection, 1058, 1059f prevention of, 447
Kaposi varicelliform eruption, 752–754. See also Eczema herpeticum prognosis in, 447
Kartagener syndrome risk factors for, 445
dextrocardia in, 1249, 1249f Kissing warts, 666, 667f
primary cilia disorder in, 1249–1251 (See also Primary ciliary dyskinesia) Klein’s line, 541f
Kawasaki disease, 1023–1028 Klinefelter syndrome, incontinentia pigmenti in, 1308
diagnosis of, 172, 1024–1026 Klippel-Trenaunay syndrome
clinical features in, 1024–1025, 1024f, 1025f diagnosis of, 978–979, 978f
distribution in, 1023 port-wine stain in, 976, 977
imaging in, 1026, 1026f, 1027f Koebner phenomenon
laboratory testing in, 1026 in lichen nitidus, 797, 797f, 798, 799f
differential diagnosis of, 1026–1027 in lichen planus, 791, 792f
vs. scarlet fever, 173, 173f in psoriasis, 774t, 777
epidemiology of, 171, 1023 Koenen tumor, in tuberous sclerosis, 1187, 1188f
etiology and pathophysiology of, 1024 KOH preparation
follow-up of, 174 for fungal infections, 690–691, 690f–692f, 691t
fundamentals of, 1023 for tinea capitis, 697, 698, 699, 699f
management of, 1027–1028 for tinea corporis, 703, 704–705, 705f
patient education on, 1028 for tinea cruris, 709
patient story of, 1023, 1023f for tinea pedis, 713, 713f, 714f
prognosis and follow-up of, 1028 for tinea versicolor, 717, 717f, 718, 719f
risk factors for, 1024 Koilonychia, from iron de ciency, 402, 402f, 1211f. See also Iron de ciency
Keloids, 807–810 Koplik’s spots, 640, 640f, 641
diagnosis of, 808, 808f Krishna, Sangeeta, 32–34, 33f, 34f
differential diagnosis of, 808, 808f Kwashiorkor, 46–48, 47f, 48f
epidemiology of, 807, 807f Kytococcus sedentarius, pitted keratolysis from, 603
etiology and pathophysiology of, 807–808
piercing in, 501, 501f–502f, 808, 808f L
fundamentals of, 807 Labial adhesion, 75, 75f
management of, 809–810, 809f, 810f Labial melanocytic macule, 822, 822f
patient education on, 810 Lace-like erythematous rash, in fth disease, 644, 644f, 645f
1352
INDEX
Lactobacillus, hydrogen peroxide-producing, 477 Bell’s palsy from, 1176, 1176f
Lamellar ichthyosis, 982–986 diagnosis of, 57f, 58, 58f
diagnosis of, 984–985, 985f differential diagnosis of, 59
differential diagnosis of, 985 epidemiology of, 57
epidemiology of, 983, 983f etiology and pathophysiology of, 57–58, 57f, 58f
etiology and pathophysiology of, 983, 983f fundamentals of, 57
follow-up of, 986 management of, 59
management of, 985–986, 986f patient story of, 56–57, 57f
patient education on, 986 risk factors for, 58
Lamina papyracea., 119, 119f Leptomeningeal capillary-venous malformations, in Sturge-Weber syndrome,
Langerhans cell histiocytosis, 770, 770f, 1233–1235 1198–1199, 1199f
diagnosis of, 122f, 1234–1235, 1234f Leptominengeal angioma, in Sturge-Weber syndrome, 1198–1199, 1199f
in diaper area, 574, 574f Letterer-Siwe Disease, 770, 770f, 1233–1235. See also Langerhans cell
differential diagnosis of, 1235 histiocytosis
epidemiology, etiology and pathophysiology of, 1234 Leukocoria, 104–113. See also Retinoblastoma
fundamentals of, 1233 differential diagnosis of, 105t–109t, 110
management and prognosis in, 1235 cataract, 105t
patient story of, 1233, 1233f Coats disease, 108t, 111f
risk factors for, 1234 extensive myelination of nerve ber layer, 106t, 111f
Laparoscopic pyeloplasty, robotic-assisted, 420, 421f morning glory syndrome, 108t
Large for gestational age (LGA), 14 optic disease and uveal coloboma, 107t, 111f
Laryngeal papilloma, in acute upper airway obstruction, 184t, 185f persistent fetal vasculature, 105t
Laryngomalacia, 192–194 persistent hyperplastic vitreous, 105t, 111f
diagnosis of, 192 retinopathy of prematurity, 106t
differential diagnosis of, 192–194 toxocariasis, 107t
vs. subglottic stenosis, 192, 193f toxoplasmosis, congenital, 109t, 112f
vs. tracheomalacia, 192, 193f epidemiology of, 104
vs. vocal cord paresis/ paralysis, 192, 194f etiology and pathophysiology of, 104
epidemiology of, 192 fundamentals of, 104
follow-up and patient education on, 194 Leukocytoclastic vasculitis, 877–882
management of, 193, 194f diagnosis of, 878f, 879–880, 879f
patient story of, 192, 192f differential diagnosis of, 880–882
prevention and screening for, 194 epidemiology of, 877–878
Larynx chondromalacia, 192–194. See also Laryngomalacia etiology and pathophysiology of, 878–879
Latent TB infection, 1081, 1081f. See alsoTuberculosis (TB) fundamentals of, 877
Latrines, pit, in Ethiopia, 43, 44f management of, 882
Lazy-eye, 98–103. See also Strabismus patient education on, 882
Leather patch, in tuberous sclerosis, 1187, 1188f prognosis and follow-up of, 882
Legg-Calvé-Perthes, 535–538 risk factors for, 879
diagnosis of, 535f, 536, 536f Leukonychia, 919–920, 919f, 920f, 922, 923t
differential diagnosis of, 536 Leukonychia punctata, 919–920, 920f
epidemiology of, 535 Leukotrichia, 953, 953f
etiology and pathophysiology of, 535 Lice, 721–725
follow-up of, 538 diagnosis of, 721f–724f, 723
fundamentals of, 535 differential diagnosis of, 724
management of, 536–538, 537f, 538f epidemiology of, 721–722, 722f
patient education on, 538 etiology and pathophysiology of, 721f–723f, 722–723
patient story of, 535, 535f, 536f follow-up of, 725
prevention and screening for, 538 fundamentals of, 721
Leishmaniasis, 52–54 global health problem of, 55–56, 57f
diagnosis of, 53, 53f, 54f management of, 724–725, 724f
differential diagnosis of, 53 patient education on, 725
etiology and pathophysiology of, 52 prevention of, 725
management of, 54 risk factors for, 723
prevention of, 54 Lichen aureus, 880, 881f
prognosis in, 54 Lichen nitidus, 797–801
risk factors for, 52 diagnosis of, 798–799, 798f, 799f
Lentigo, in nail, 926 differential diagnosis of, 800–801
Lentigo maligna melanoma, 845t. See also Melanoma, pediatric epidemiology of, 797
Leprosy, 56–59 etiology and pathophysiology of, 797
1353
INDEX
fundamentals of, 797, 797f diagnosis of, 928, 928f
management of, 801 differential diagnosis of, 928–929
patient story of, 797, 797f etiology and pathophysiology of, 926, 926f, 927f
prevention and screening for, 801 fundamentals of, 925–926, 925f, 926f
prognosis and follow-up of, 801 management of, 929
risk factors for, 798 patient story of, 925, 925f
Lichen nitidus actinicus, 798 prognosis and follow-up of, 929
Lichenoid dermatoses, 797. See also speci c types risk factors for, 927, 927t
Lichen planopilaris, 792, 793f. See also Lichen planus Long QT syndrome, 274–276, 274f, 275f
Lichen planus, 791–795 Louse, crab, 722, 722f. See also Lice
diagnosis of, 791–793, 792f–794f Low birth weight (LBW)
Koebner phenomenon in, 791, 792f classi cation of, 12
6Ps in, 791, 792f death from, 21
differential diagnosis of, 793–794 Lower respiratory tract infection, bronchiolitis from, 292–294. See also
epidemiology of, 791 Bronchiolitis
etiology and pathophysiology of, 791 Lues, 1050–1056. See also Syphilis
follow-up of, 795 Lupus, neonatal, 559, 560f, 996, 996f
fundamentals of, 791 Lupus, systemic and cutaneous, 995–1001
management of, 794–795 diagnosis of
patient education on, 795 clinical features in, 996–997, 997f–1000f, 997t
patient story of, 791, 791f distribution in, 998, 998f, 1000f
prognosis in, 795 laboratory testing in, 998–999
risk factors for, 791 differential diagnosis of, 1000
Lichen sclerosus et atrophicus, vulvar epidemiology of, 995–996
vs. child sexual abuse, 75, 75f etiology and pathophysiology of, 996, 996f
differential diagnosis of, 1033, 1034f fundamentals of, 995
Lichen simplex chronicus, 758, 759f, 780, 780f management of, 1000
Lichen striatus, 797–801 patient education on, 1001
diagnosis of, 799, 799f, 800f patient story of, 995, 995f
differential diagnosis of, 799–800, 834, 834f prevention of, 1001
vs. keratosis pilaris, 800, 801f prognosis and follow-up of, 1001
epidemiology of, 797 risk factors for, 996
etiology and pathophysiology of, 798 Lupus panniculitis, 998, 1000f. See also Lupus, systemic and cutaneous
fundamentals of, 797, 797f Lupus pernio, 861–865, 862f, 863f. See also Sarcoidosis, pediatric
management of, 801 Lupus profundus, 998, 1000f. See also Lupus, systemic and cutaneous
patient education on, 801 Lyell syndrome, 867–872. See alsoToxic epidermal necrolysis
prevention and screening for, 801 Lyme disease, 1063–1066
prognosis and follow-up of, 801 diagnosis of, 1063f, 1064–1065, 1064f
risk factors for, 798 differential diagnosis of, 1065–1066
Li-Fraumeni syndrome, Wilms tumor in, 1230 epidemiology of, 1063–1064, 1063f
Likelihood ratio (LR), 1320–1322 etiology and pathophysiology of, 1064
Lindsay nails, 922, 923f, 923t fundamentals of, 1063
Linear and whorled hypermelanosis (LAWH) management of, 1066
differential diagnosis of, 962, 962f patient education on, 1066
Linear ecchymosis, from child abuse, 68, 68f preventi

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Mind y Ann Smit h, MD E.J . Maye aux, J r., MD

He id i S. Chumle y, MD Elumalai Ap p achi, MD, MRCP (UK)

eBook conversion by codeMantra

Contributors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xi Se ct io n 2: No se and Sinus

PART 4 THE HEART AND CIRCULATIO N

128 Scabies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 726 Se ct io n 15: Pig me nt ary Co nd it io ns

PART 18 218 B-cell Immunode ciencies . . . . . . . . . . . . . . . . . . . . . . 1253

Nazha Ab ug hali, MD Marjan At t aran, MD

Alliso n W. Brind le , MD J o shua Rai Clark, MD

Ang e la M. Fals, MD, FAAP Wand a C. Go nsalve s, MD

Tara Harwo o d , MS, RD, CSP, LD Ed ward A. J ackso n, MD

J o e l Ko lmo d in, MD Lo ri A. Mahajan, MD

Rachna May, MD FAAP Lisanne Ne wt o n, MD

Kart hik Rajase karan, MD Paula Sab e lla, MD, FAAP

And re w She d d , MD J ulie Sco t t Taylo r, MD, MSc

Ne il Vachhani, MD Brian Williams, MD

*Se e Ap p e nd ix A on p ag e s 1320–1322 for furthe r information.

*Se e Ap p e nd ix A on p ag e s 1320–1322 for furthe r information.

People only see what they are prepared to see.

Whether you are viewing Figure 1-1 in a book, in an aquarium, or

FIGURE 1-4 When the d iagnosis of psoriasis is being considered , look

De rm Atlas www.d e rmatlas.org Johns Hop kins Unive rsity

*Se e Ap p e nd ix A on p ag e s 1320–1322 for furthe r information.

Patient and family stories, particularly if we listen attentively and non-

~ Partnership building—The extent to which the physician

involves the parent and child in the care of the child.

• The pediatric encounter is complex and unique because it:

~ Is in uenced by the developmental and cognitive stage of the child.

~ Parental satisfaction with care.

devotion (e.g., a willingness at times to do something extra for the

their statements to the child. 5 REFERENCES

parents’ evaluations of pediatric consultations. Medical care

A 15-month-old boy is admitted with fever, rash, and conjunctivitis.

Family centered care; Family centered rounds.

An innovative approach to the planning, delivery, and evaluation of

the active participation of all children, including children with

4 THE BIRTH O F A CHILD EPIDEMIO LO GY

~ 11.72 percent of infants preterm.

facilitated by the rst breaths.

I These changes result in a decrease in pulmonary vascular

Ductus a rte rios us

S upe rior ve na cava

Fora me n ova le P ulmona ry trunk

intervention at delivery or further intensive care include:

abnormal cord insertion, placental infarcts, chronic abruption

FIGURE 4-3 Monoamniotic, d ichorionic twin g irls with a 10 p e rce nt

fetal distress). rate.

Assessment of the newborn in the delivery room (Figures 4-5 to 4-8)

~ At 1 minute re ecting the assessment at birth.

may include peripheral cyanosis and mild tachypnea.

Initial assessment in the newborn nursery include:

~ Target glucose concentration is ≥45 mg/ dl; babies should be

In the delivery room:

~ Oral Vitamin K may not prevent late-onset hemorrhagic disease

In the newborn nursery:

breastfeeding, amount of formula, number of wet diapers, and

~ Appropriate positioning (supine on at surface).

~ Regular assessment for signs and symptoms of withdrawal using

~ Exam by physician at least by 24 hours of age, within 24 hours

each diaper change for 4 to 7 days after circumcision. 15

~ Antiseptic agents (alcohol, triple dye, chlorhexidine) not indi-

~ Lactation consultation for breastfeeding moms.