SYNDROMES

Behcet Syndrome
 Also called behcet disease / adamantiades syndrome
 Abnormal immune process triggered by an infectious or environmental antigens in a genetically
predisposed individual
 HLA-B51 linked closely to behcet syndrome
 Uncommon in blacks
 3rd and 4th decades
 Rarely before puberty or after 50
 Men
 Oral ulcerations + genital ulcerations + cutaneous lesions + arthritis + uveitis + thrombophlebitis + GI
manifestations + CNS involvement
 Oral lesions – similar to aphthous ulcerations, vary in size and surrounded by a larger zone of diffuse
erythema. All 3 forms may be seen (57% minor, 40% major, 3% herpetiform).
 Genital lesions – Males – scrotum; female – vulva, vagina, uterine cervix. Perineal, perianal and groin in
both. Recur less frequently than oral lesions but are deep and heal with scarring
 Cutaneous lesions – erythematous papules, vesicles, pustules, pyoderma, folliculitis, acneiform eruptions,
erythema-nodosum like lesions. Positive pathergy test
 Arthritis – common minor manifestation. Usually self limiting and non-deforming. Knees, wrists , elbows
and ankles are effected more frequently
 Ocular – involved in upto 70% of cases. Severe in males. Posterior uveitis, conjunctivitis, corneal
ulceration, papilledema, and arteritis. The most common secondary ocular complications is cataracts,
glaucoma, and neovascularization of iris and retina. Blindness occurs in 25% of patients.
 Vascular – veins are affected more frequently. Superficial and deep thrombophlebitis
 • GI – abdominal pain, anorexia, diarrhea, dyspepsia and vomiting
 CNS – not common, associated with poor prognosis. Paralysis and severe dementia
 DIAGNOSIS

Treatment

 Tailored to disease severity and prognostic

factors
 Treated symptomatically
 Disease often remiss as the pt ages
 Females and older pt have better prognosis
 Ocular and CNS involvement have significant
morbidity and requires aggressive treatment
 Systemic medications –
o Azathioprine, Colchicine,
Corticosteroids, Cyclosporine, Dapsone,
Interferon-a, Methotrexate,
Pentoxifylline, Sulfasalazine,
thalidomide, anti-TNF-a
 Topical or intralesional corticosteroids
 Topical tacrolimus
EAGLE SYNDROME

 Also called stylohyoid syndrome; carotid artery syndrome; stylalgia

 Styloid process originates from inferior aspect of temporal bone, anterior and medial to stylomastoid
foramen, provides attachment for stylohyoid ligament
 External and internal carotid artery lies on either side
 Average length of the styloid process is approximately 20 to 30 mm
 Elongated styloid process or calcified stylohyoid ligament and facial pain
 Women
 Reported in 18% to 84% of population, increasing incidence with advancing age
 Usually B/L, sometimes U/L
 Usually asymptomatic, experience symptoms due to impingement or compression of adjacent nerves or
blood vessels
 Pain on chewing and swallowing
 Pain on turning the head towards the affected side or opening the mouth
 Dysphagia, dysphonia, otalgia, headache, dizziness, syncope, transient ischemic attacks
 Palpated in the tonsillar fossa area, elicits pain
 Radiological – OPG, lateral skull, Towne’s view radiographs, lateral oblique mandibular radiographs, CT
 Pathophysiology
o Classic eagle syndrome – occurs after tonsillectomy. Development of scar tissue in the area of
mineralized stylohyoid complex than results in cervicopharyngeal pain in the region of cranial
nerves. (V, VII, IX, X)
o Impingement of the glossopharyngeal nerve, vagus nerve, or branches of the trigeminal and facial
nerve
o Impingement of the carotid vessels and associated sympathetic nerve fibres– carotid artery
syndrome or stylohyoid syndrome – pain in the neck when turning.
o Inflammation of the tendinous portion of the stylohyoid ligament
o Fracture of mineralized stylohyoid ligament – traumatic eagle syndrome
 Management:- surgical excision of the elongated styloid process in severe cases via intraoral or extra-oral
approach
 Non-invasive management – local injection of corticosteroids provides temporary relief
 Facial pain recurs in as many as 20% who have undergone surgery

Hemihyperplasia
 Assymetric overgrowth of one or more body parts
 Also called hemi-hyperplasia – but this is a misnomer; there is no hyperplasia but hypertrophy of tissues
 Can be an isolated finding or associated with a
syndrome
 In isolated cases – various theories
o Vascular or lymphatic abnormalities
o CNS disturbances
o Endocrine dysfunctions
o Aberrant twinning mechanisms
o Chromosomal anomalies
 Types
o Complex – entire side of the body is
involved
o Simple – limited to a single limb
o Hemifacial – enlargement of one side of the face
 In female; right side involved more often
 Asymmetry noted at birth but become more pronounced later in childhood
 Growth continues until overall growth ceases
  Involve all of the tissue on the involved side including bone
 Increase abdominal tumors (wilms tumor, adrenal cortical carcinoma, hepatoblastoma
 Craniofacial – unilateral macroglossia, other facial tissues enlarged on the effected side including bone,
mandibular canal increased in size, large tooth, larger roots, premature development of teeth along with
early eruption. Malocclusion with open bite
 Treatment
o Complete workup to rule of any syndromes
o Periodic U/S to rule out abdominal tumors
o After growth ceases – cosmetic surgeries (debulking, face lifts)
o Orthognathic surgery
o Orthodontic treatment

Crouzon Syndrome
 Also called craniofacial dysostosis
 Characterized by craniosynostosis – premature closing of the cranial sutures
 Mutations of fibroblast growth factor receptor 2 (FGFR2) gene
 Related to increased paternal age
 Cranial marformations
o Brachycephaly – short head
o Scaphocephaly – boat shape head
o Trigonocephaly – triangle shaped head
o In severe cases – clover leaf skull – kleeblattschadel deformity
 Orbits are shallow – ocular proptosis
 Visual impairments or total blindness and a hearing deficit may occur
 Headaches due to increased intracranial pressure
 Marked mental deficiency
 Skull radiographs – increased digital markings (beaten metal pattern)
 Maxilla is underdeveloped – midface hypoplasia
 Maxillary teeth are crowded therefore occlusal disharmony
 One or more congenitally missing teeth
 Cleft lip or palate
 Treatment
o Multiple surgical procedures
o Craniectomy – to alleviate the raised intracranial pressure
o Fronto-orbital advancement – to correct ocular defects
o Midfacial advancement – to correct maxillary hypoplasia

Apert Syndrome
 Also called acrocephalosyndactyly
 Like crouzon syndrome characterized by craniosynostosis
 Mutations in FGFR2 gene
 Associated with increased paternal age
 Cranial malformations
o Acrobrachycephaly – tower skull
o In severe cases – clover leaf skull – kleeblattschadel deformity
o Occiput is flattened and tall appearance of the forehead is noted
o Ocular proptosis
o Hypertelorism
 o Downward slanting lateral palpebral fissures
o Visual loss due to
 Chronic exposure of unprotected eyes
 Increased intracranial pressure
 Compression of the optic nerves
o Skull radiographs – increased digital markings (beaten metal pattern)
 Retruded and hypoplastic midface
 Relative mandibular prognathism
 Respiratory distress
o Due to reduced size of nasopharynx
o Narrowing of posterior choanae
o Become mouth breathers
o Open mouth appearance
o Sleep apnea
 Middle ear infections - conductive hearing loss
 Characteristics limb defects
o Syndactyly of the 2nd, 3rd and 4th digits of the hand and feet always
 Average height is below that of general population
 Intellectual disability
 Unusual acne-like eruption on forearms
 Oral manifestations
o Trapezoid appearance of upper lips due to midface hypoplasia and mouth breathing
o Cleft of soft palate or bifid uvula
o V-shaped arch or crowding of teeth
o Class III malocclusion with ant open bite and ant and post crossbite
o Gingival thickening – delayed eruption of teeth
o Missing one or two permanent teeth (maxi LT or Mand 2nd PM)
 Treatment
o Interdisciplinary approach
o Multiple surgical procedures
o Early surgical intervention to allow for brain growth may contribute to greater intellectual and
social development
o Craniectomy – to treat craniosynostosis
o Frontofacial advancemen
o Midface advancement
o Orthodontic therapy
o Surgery to separate the fused fingers

Treacher Collins Syndrome

 Also called mandibulofacial sysostosis, franceschetti-zwahlen-klein syndrome)
 Characterized by defects of structures derived from the 1st and 2nd branchial arches
 Autosomal dominant trait
 Associated with increased paternal age
 Facies –
o Hypoplastic zygomas – narrow face and depressed cheek and downward slanting palpebral
fissures
o Coloboma – motch occurs on the outer portion of the lower eyelid
o No eyelashes mdial to coloboma
 o Sideburns show a tongue-shaped extension toward the cheek
 Ear –
o Deformed or misplaced pinna
o Extra ear tags
o Ossicles defects
o Absence of external auditory canal – conductive hearing loss
 Mandible
o Underdeveloped
o Retruded chin
o Condylar and coronoid hypoplasia
o Prominent antigonial notching
 15% of patient have lateral facial clefting – produces macrostomia
 Cleft palate
 Parotid gland may be hypoplastic or missing
 Respiratory and feeding difficulties
o Hypoplasia of nasopharynx, oropharynx and hypopharynx
o Choanal atresia
o Larynx and trachea are narrow combined with mandibular hypoplasia – improper tongue
position; can lead to infant’s death from respiratory complications
 Treatment
o Mild – no treatment
o Cosmetic surgeries
o Multiple individual surgery to correct eyes, zygomas, jaws, ears, and nose
o Orthognathic surgery
o Orthodontic therapy

PLUMMER VINSON SYNDROME

REYE SYNDROME

RAMSAY HUNT SYNDROME

LOFGREN SYNDROME

HEERFORDT SYNDROME

MAGIC SYNDROME

PFAPA SYNDROME

SWEET SYNDROME