DEVELOPMENTAL DISTURBANCES OF

ORAL AND PERIORAL SOFT TISSUES

CONTENTS

1. Classification

2. Developmental disturbances of lip & palate

3. Hereditary intestinal polyposis syndrome

4. Developmental disturbances of oral mucosa

5. Developmental disturbances of gingiva

6. Developmental disturbances of tongue

7. Developmental disturbances of salivary glands

8. Developmental disturbances of lymphoid tissues

1
CLASSIFICATION:

I. Developmental disturbances of lip and palate:

a. Congenital lip and commissural pits & fistulas

b. Vander woude syndrome (cleft lip syndrome, lip pit syndrome, dimpilled papillae
of the lip)
c. Cleft lip & cleft palate (Oro facial clefts)
d. Chelitis glandularis (Actinic chelitis, Squamous cell carcinoma)
e. Chelitis granulomatosa (Miescher – Melkersson – Rosenthal syndrome)
f. Paramedian lip pits
g. Double lip

II. Hereditary intestinal polyposis syndrome

III. Developmental disturbances of Oral mucosa:

a. Fordyce’s granules
b. Focal epithelial hyperplasia (Heck’s disease)

IV. Developmental disturbances of gingiva:

a. Fibromatosis gingiva ( Elephantiasis gingivae, hereditary gingival fibromatosis,
congenital macrogingivae)
b. Retro cuspid papillae
c. Epstein pearls
d. Bohn’s nodules
V. Developmental disturbances of tongue:
a. Aglossia & microglossia syndrome
b. Macroglossia ( Tongue hypertrophy, prolapsys of the tongue, enlarged tongue,
pseudo macroglossia)
c. Ankyloglossia or tongue-tie
d. Cleft tongue
e. Fissured tongue ( scrotal tongue, lingua plicata)

2
 f. Median rhomboid glossitis
g. Benign migratory glossitis (Geographic tongue)
h. Hairy tongue ( Lingua nigra, lingua villosa, lingua villosa nigra, black hairy
tongue)
i. Lingual varices ( lingual or sublingual varicosities)
j. Lingual thyroid nodule
VI. Developmental disturbances of Oral lymphoid tissue:
a. Reactive lymphoid aggregate (Reactive lymphoid hyperplasia)
b. Lymphoid hamartoma (Angio follicular lymph node hyperplasia, angiomatous
lymphoid, castlemantumour, gaint benign lymphoma, hamartoma of lymphatics,
gaint lymph node hyperplasia)
c. Angiolymphoid hyperplasia with Eosinophillia (Epitheloid hemangioma,
histiocytoid hemangioma, pseudopyogenic granuloma, paplular angioplasia,
inflammatory angiomatous nodule)
d. Lymphoepithelial cyst
VII. Developmental disturbances of salivary glands:
a. Aplasia (agenesis)
b. Xerostomia (Dry mouth)
c. Hyperplasia of palatal glands
d. Atresia
e. Aberrancy
f. Developmental lingual mandibular salivary gland depression ( Static bone cavity
or defect of the mandible, lingual mandibular bone cavity, static bone cyst, latent
bone cyst, stafne cyst or defect)
g. Anterior lingual depression

I. Developmental disturbances of lip and palate:

3
 A.Congenital lip and commissural pits & fistulas:
 Congenital lip pits & fistulas are malformations of the lips, often following a hereditary
pattern.
 They may occur alone or in association with other developmental anamolies such as
various oral clefts.
 Both Taylor & Lane and Mc Connel and his associates have emphasized that in 75-80%
of all cases of congenital labial fistulas, there is an associated cleft lip or palate or both.

Etiology:

 Pits may result from notching of the lip at an early stage of development, with fixation of
tissues at the base of the notch.
 Or from failure of complete union of the embryonic lateral sulci of the lip, which persist
and ultimately develop into the typical pits.

Clinical features:

 The lip pit or fistula is a unilateral or bilateral depression or pit that occurs on the
vermillion surface of either lip but far more commonly on the lower lip.
 They manifest as blind fistulas that may extend to a depth of 1-4 mm.
 In some cases, a small amount of fluid may be expressed from the pit when the pit
squeezed, presumably representing saliva from minor salivary glands that drain into the
depth of the invagination.
 The lips sometimes appear swollen, accentuating the appearance of the pits.
 Commissural pits are an entity probably very closely related to lip pits, but occur at the
lip commisures, lateral to typical lip pits.
 They appear more common in adults.
 Males are more commonly affected than females.
 A family history suggestive of autosomal dominant transmission has been noted in some
cases.

4
  In several cases, pre auricular pits have been reported in association with commissural
pits.

Histopathological features:

 A narrow invagination lined by stratified squamous epithelium.

 Ducts from minor salivary glands may drain into the invagination.

Treatment:

 Asymptomatic & do not require any treatment.

 Surgical excision of these various pits has been recommended but primarily for academic
information.

b. Paramedian lip pits (Congenital fistulas of the lower lip, Congenital lip pits)

 They are rare congenital invaginations of the lower lip.

Etiology:

 They are believed to arise from the persistent lateral sulci on the embryonic mandibular
arch.
 These sulci normally disappear by 6 weeks of embryonic age.

Clinical features:

 They typically appear as bilateral & symmetric fistulas on either side of the midline of
the vermilion of the lower lip.
 Their appearance can range from subtle depressions to prominent lumps.
 These blind sinuses can extend to a depth of 1.5cm and may express salivary secretions.
 Occasionally only a single pit is present that may be centrally located or lateral to the
midline.

5
  They are usually inherited as autosomal dominant trait in combination with cleft lip &
cleft palate (Vander woude syndrome)
 Paramedian lip pits also may be a feature of the Popliteal pterygium syndrome &
Kabuki’s syndrome.

Popliteal pterygium syndrome:

1. Popliteal webbing (pterygia)

2. Cleft lip &/or cleft palate
3. Genital abnormalities
4. Congenital bands connecting the upper and lower jaws ( Syngnathia)

Kabuki syndrome:

1. Affected patients exhibit eversion of the lower lateral eyelids, which is reminiscent of the
makeup used by actors in Kabuki, the traditional form of Japanese theatre.
2. Mental retardation
3. Large ears
4. Cleft lip &/or Cleft palate
5. Hypodontia
6. Joint laxity
7. Various skeletal abnormalities

Histopathological features:

 A tract is lined by stratified squamous epithelium.

 Minor salivary glands may contain communicate with the sinus.
 A chronic inflammatory cell infiltrate often is noted in the surrounding connective tissue.

Treatment:

Labial pits can be excised if necessary for cosmetic reasons.

6
 c. Vander woude syndrome (cleft lip syndrome, lip pit syndrome,

dimpilled papillae of the lip)

 It is an autosomal dominant syndrome typically consisting of a cleft lip or palate and
distinctive pits of the lower lips.
 The variable manifestations include lip pits alone, missing teeth, or isolated cleft lip &
palate of varying degrees of severity.

Etiology:

 The most prominent & consistent feature of vander woude syndrome is oro facial
anamolies.
 They are due to an abnormal fusion of the palate & lips, at days 30-50 post conception.
 This syndrome can be caused by deletions in the chromosome band Iq32, and linkage
analysis has confirmed this chromosomal locus as the disease gene site.
 The gene has been localized to chromosome band Iq32.
 Further studies have raised the possibility that the degree of phenotypic expression of a
gene defect at this locus may be influenced by a second modifying gene that has been
mapped to chromosome band 17p11.

Clinical features:

 This syndrome effects about 1 in 100,000 - 200,000 people.

 About 1-2 % of patients with cleft lip or palate have this syndrome.
 Affects both genders equally.
 Severity of the vander woude syndrome varies widely, even within families.
 It is associated with cleft lip &/or cleft palate with distinctive lower lip pits.
 They may be unilateral or bilateral.
 Submucous cleft palate is common and may be easily missed on physical examination.
Hypernasal voice & cleft or bifid uvula are clues to this diagnosis.
 Lower lip pits in this syndrome are fairly distinctive.
 The pits are usually medial, on the vermilion portion of the lower lip. They tend to be
centered on small elevations in infancy, but are simple depressions in adults.

7
  These pits are often associated with accessory salivary glands that empty into pits,
sometimes leading to embrassing visible discharge.
 Occasionally lip pits may be the only manifestationof the syndrome.
 Affected individuals may have maxillary hypodontia, missing maxillary incisors or
missing premolars.
 Although infrequently reported, other oral manifestations include syngnathia ( congenital
adhesion of the jaws); narrow, high arched palate & ankyloglossia ( short glossal
frenulum or tongue-tie)

Extra Oral manifestations:

1. Limb anamolies
2. Popliteal webs
3. Brain anamolies
4. Accessory nipples
5. Congenital heart defects
6. Hirschprung disease

Treatment:

 Examination &genetic counseling by a pediatric geneticist (Dysmorphologist) is

suggested for families that may be affected by this syndrome. This should include an
examination of as many potentially affected family members as possible.
 Surgical repair of the cleft lip & palate or other anamolies may be required, when
planning surgical intervention, imaging studies of affected areas, such as CT scanning of
the oropharynx, may be appropriate.
 Even among those less severely affected, surgical excision of lip pits is often preformed,
either to alleviate discomfort or for cosmetic reasons ( eg: improving the appearance of
lip pits or reducing mucous discharge)

8
d. Double lip:

 It is a rare oral anamoly charecterised by a redundant fold of tissue on the mucosal side of
the lip.
 It is most often congenital in nature, but it may be acquried later in life.

Etiology:

 Congenital cases are believed to arise during the second to third month of gestation as a
result of the persistence of the sulcus between the pars glabrosa and pars villosa of the
lip.
 Acquired lip may be a component of Ascher syndrome, or it may result from trauma or
oral habits, such as sucking on the lip.

Clinical features:

 Upper lip is much more often affected than lower lip.

 Occasionally both lips are involved.
 With the lips at rest, the condition is usually unnoticeable, but when the patient smiles or
when the lips are tensed, the excess fold of tissue is visible.
 Ascher syndrome is characterized by a triad of features:
1. Double lip
2. Blepharochalasis
3. Non toxic thyroid enlargement
 In a person with blepharochalasis, recurring edema of the upper eyelid leads to sagging of
the lid at the outer canthus of the eye.
 This drooling may be severe enough to interfere with vision.
 Both the double lip & blepharochalasis usually abruptly & simultaneously, but in some
cases they develop more gradually.
 The non toxic thyroid enlargement occurs in many as 50% of patients with Ascher
syndrome and may be mild in degree.

9
  Cause of Ascher syndrome is not certain; autosomal dominant inheritance has been
suggested in some cases.

Histopathological features:

 On microscopic examination, double lip shows essentially normal structures.

 Often there is abundance of minor salivary glands.
 The blepharochalasis of the Ascher syndrome usually shows hyperplasia of the lacrimal
glands or prolapsed of orbital fat.

Treatment:

 Mild cases – no treatment is required.

 Severe cases – surgical excision of the excess tissue can be performed for esthetic
purposes.

e. Cleft lip and cleft palate:

 The term cleft lip and palate is commonly used to represent 2 types of malformation, i.e
cleft lip with or without cleft palate and cleft palate.
 Cleft lip & palate are commonly congenital malformations.
 The reported incidence of clefts of the lip & palate varies from 1 in 500 to 1 in 2500 live
births depending on geographic orgin, racial and ethnic background & socio economic
status.
 Failure in fusion of the nasal & maxillary processes leads to the cleft of the primary
palate, which can be unilateral or bilateral.
 The degree of cleft can vary from a slight notch on the lip to complete cleft of the
primary palate.
 Cleft of the secondary palate is medial. It varies from bifid uvula to complete cleft palate
upto the incisive foramen.

10
  When it is associated with the primary palate, a complete unilateral or bilateral cleft lip &
palate is formed.

Etiology:

 It has been clearly established by Fogh Andreson& confirmed by numerous other

investigators that 2 separate & distinct entities exist:
1. Cleft lip with or without associated cleft palate
2. Isolated cleft palate
 Various etiological factors include:
1. Hereditary
2. Genetic
3. Abnormal dietary regimens
4. Physiological, emotional or traumatic stress – strain
5. Defective vascular supply to the area involved
6. A mechanical disturbance in which the size of the tongue may prevent union of parts
7. Circulating substances such as alcohol, certain drugs & toxins.
8. Infections
9. Lack of inherent developmental force
10. Bixler – recently expanded upon this concept & reiterated that there are 2 forms of
clefts
 The most common is hereditary, its nature being most probably polygenic ( determined
by several different genes acting together)
 Second form of cleft is monogenic or syndromic and is associated with a variety of other
congenital anamolies.
 Bixler has pointed out that, fortunately, the clefting syndromes are rare & probably
make up only 5% of all cleft cases.
 Despite the numerous clinical & experimental investigations, the etiology of cleft
palate in the human being is still largely unknown. It must be concluded that
hereditary is probably the most important single factor.

11
Clinical features:

 Cleft lip with or without palate is more common in males than in females.
 Isolated cleft palate is more common in females.
 Clefts can be divided into non syndromic and syndromic forms.
 Syndromic forms of clefts include those cases that have additional birth defects like birth
defects like lip pits or other malformations.
 Non syndromic clefts are those cases where in the affected individual has no other
physical or developmental anamolies & no recognized maternal experimental exposures.
 At present most studies suggest that about 70% of cases of cleft lip with or without palate
& 50% of isolated cleft palate are non syndromic.
 The remaining syndromic cases can be sub divided into chromosomal anamolies,
teratogens & uncategorized syndromes.
 Cleft lip can occur as a unilateral or as a bilateral anamoly.
 The line of cleft always starts on the lateral part of the upper lip & continues through the
philtrum to the alveolus between the lateral incisor & the canine tooth.
 The clefting anterior to the incisive foramen (i.e lip and alveolus) is also defined as a cleft
of primary palate.
 Cleft lip may occur with a wide range of severity, from a notch located on the left or right
side of the lip to most severe form, bilateral cleft lip & alveolus that saperates the
philitrum of the upper lip & pre maxilla from the rest of the maxillary arch.
 When cleft lip continues from the incisive foramen further through the palatal suture in
the middle of the palate, a cleft lip with palate is present a wide range of severity may be
observed.
 The cleft line may be interrupted by skin or mucosa bridges, hard (bone) bridges, or both
corresponding to a diagnosis of an incomplete cleft. This occurs in unilateral & bilateral
cleft lip & palate.
 Isolated cleft palate is etiologically & embryologically different from cleft lip with or
without cleft palate.
 Several subtypes of isolated cleft palate can be diagnosed based on severity.
 The uvula is the place where the minimal form of clefting of the palate is observed.

12
  A more severe form is a cleft of the soft palate.
 A complete cleft palate constitutes a cleft of the soft palate, hard palate & cleft uvula.
 The clefting posterior to the incisive foramen is defined as cleft of secondary palate.
 A median maxillary anterior alveolar cleft is a relative common defect, occurring in
approximately 1% of the population, according to Stout & Collett, but this is unrelated to
cleft lip or cleft palate.
 This type of cleft might be due to precocious limitation of the growth of the primary
ossification centers on either side of the midline the primary palate, or to their subsequent
failure to fuse.
 Miller & his coworkers have suggested that atleast some cases may represent an
incomplete manifestation of the median cleft face syndrome ( hypertelorism, median cleft
of the premaxilla & palate, cranium bifidum occultum). This syndrome has no clinical
manifestations & is usually detected on routine intra oral radiographic examination.

Clinical features:

 Most cases of cleft lip can be surgically repaired with excellent cosmetic & functional
results.
 It is customary to operate before the patient is 1 month old or when he has regained his
original birth weight & is still gaining.
 Both the physical and psychological effects of cleft palate on the patient are of
considerable concern.
 Eating & drinking are difficult because of regurgitation of food & liquid through the
nose.
 The speech problem is also serious and tends to increase the mental trauma suffered by
the patient.
 Most individuals with CL,CP or both, require the co ordinate care of providers in many
fields of medicine & dentistry, as well as those in speech pathology, otolaryngology,
audiology, genetics, nursing, mental health & social medicine.

13
Classification of Cleft lip and palate:

I. Davis & Ritchie classification:

a. Group I: clefts anterior to the alveolus ( unilateral, median or bilateral CL)
b. Group II: post alveolar clefts ( CP alone, soft palate alone, soft palate & hard
palate or submucosal cleft)
II. Veau classification:
a. Group I (A): defects of soft palate only.
b. Group II (B): defects involving the hard palate & soft palate.
c. Group III (C): defects involving the soft palate to the alveolus, usually involving
the lip.
d. Group IV (D): complete bilateral clefts.

III. Kernhan& Stark symbolic classification:

 This classification highlights the anatomic & embryonic importance of the
incisive foramen formed during weeks 4-7GA.
 The secondary palate forms the roof of the mouth from the incisive foramen to
the uvula during weeks 7-12GA.
 This system provides a graphic classification scheme using a Y-
configuration, which can be divided into 9 areas.
a. Areas 1 &4 : Lip
b. Areas 2&5 : Alveolus
c. Areas 3 &6 : Palate between the alveolus & the incisive foramen
d. Areas 7&8 : Hard palate
e. Area 9 : Soft palate
IV. International classification of plastic & reconstructive surgery classification:
This system uses an embryonic framework to divide clefts into 4 groups.
a. Group I : defects of lip & alveolus
b. Group II : clefts of the secondary palate ( hard palate, soft palate or both)
c. Group III : any combination of clefts involving the primary & secondary palates

14
Treatment:

 Treatment of cleft lip & palate anamolies requires years of specialized care.
 Although successful treatment of the cosmetic & functional aspects of oro facial cleft
anamolies is now possible, it is still challenging, lengthy, costly & dependent on the skills
& experience of a medical team.
 This especially applies to surgical, dental & speech therapies.
 Undoubtedly, closure of CL is the first major procedure that tremendously changes
children’s future development & ability to thrive.
 Pediatricians used to strictly follow a rule of ‘Three 10’s ‘ as a necessary requirement for
identifying the child’s status as suitable for surgery ( i.e 10 lb, 10 mg/L of HB & 10
weeks of age)
 Anatomical differences predispose children with CLP & with isolated CP to ear
infections. Therefore, ventilation tubes are placed to ventilate the middle ear & prevent
hearing loss secondary to otitis media with effusion (OME)
 Complications include eardrum perforation & otorrhea, particularly in patients with open
secondary palates in which closure is planned for a later date.

f. Chelitis glandularis (Actinic chelitis, Squamous cell carcinoma)

 CG is a clinical diagnosis that refers to an uncommon & poorly understood inflammatory

disorder of the lip.
 The condition is characterized by progressive enlargement and eversion of the lower
labial mucosa that results in obliteration of the mucosal vermillion interface.
 With externalization and chronic exposure the delicate labial mucous membrane is
secondarily altered by environmental influences, leading to erosion, ulceration and
crusting.
 Most significantly susceptibility to actinic damage is increased.
 It is considered as a potential predisposing factor for the development of actinic chelitis
and squamous cell carcinoma.

15
Etiology:

 It is an unusual clinical manifestation of chelitis that evolves in response to one or more

diverse sources of chronic irritation.
 Lip enlargement is due to inflammation, hyperemia, edema and fibrosis.
 Surface keratosis, crusting and erosion develops consequent to long standing actinic
exposure, unusual repeated manipulations that include self inflicted biting or other
factitial trauma, excessive wetting from compulsive licking, drying and any other
repeated stimulus that could serve as chronic aggravating factor.
 It is a chronic progressive condition.
 Patients typically present for diagnostic consultation within 3-12 months of onset.
 Complaints vary according to the nature and degree of pain, the enlargement and loss of
elasticity of lip, and the extent of evident surface change.
 Asymptomatic lip swelling initially occurs with clear viscous secretion expressible from
dilated ductal openings on the mucosal surface.
 A burning sensation of rawness referable to the vermilion border may be reported.
 This is associated with atrophy, speckled leukoplakic change, erosion with crusting.
 It most commonly affects the lower lip.
 In more suppurative cases application of gentle pressure can elicit mucopurulent exudate.
 It is associated with an heightened risk for the development of squamous cell carcinoma.
 This affects males predominantly.
 Seen during 4th-7th decades of life.
 The risk of carcinoma and dysplasia increases with age especially in fair skinned
individuals with sun damaged skin.

Classification

1. Simple type: multiple, painless, popular surface lesions with central depressions and
dilated canals are seen.

16
 2. Superficial (suppurative type) (Baelz disease): consists of painless, indurated
swelling of the lip with shallow ulceration and crusting.
3. Deep suppurative type (CG apostematosa, CG suppurativaprofunda,
myxadenitislabialis): comprises of deep seated infection with formation of
abscesses, sinus tracts and fistulas and potential for scarring.
 The latter two types of CG have the highest association with dysplasia and carcinoma
respectively.

Histopathology:

 The minor salivary glands may appear normal or they may exhibit various changes
indicative of nonspecific sialdenitis.
 These changes can include atrophy or distention of acini, ductal ectasia with or without
squamous metaplasia, chronic inflammatory infiltration and replacement of glandular
parenchyma and interstitial fibrosis.
 Suppuration and sinus tracts may be present in cases that involve bacterial infection.
 Other possible findings include stromal edema, hyperemia, surface hyperkeratosis,
erosion or ulceration.

Differential diagnosis:

1. Actinic keratosis
2. Atopic dermatitis
3. Chelitis granulomatosa (miescher- melkersson- Rosenthal syndrome)
4. Sarcoidosis
5. Squamous cell carcinoma

Treatment:

 Appropriate antibiotic therapy.

 Treatment varies accordingly for each patient.

17
g.Chelitisgranulomatosa (Miescher – Melkersson – Rosenthal syndrome)

 It is a chronic swelling of the lip due to granulomatous inflammation.

 Miescher chelitis (MC) is the term used when the granulomatous changes are confined to
the lip.
 MC is generally regarded as a monosymptomatic form of the Melkersson- Rosenthal
syndrome.
 Melkersson- Rosenthal syndrome is the term used when chelitis occurs with facial palsy
and plicated tongue.
 Melkersson- Rosenthal syndrome is occasionally a manifestation of crohn disease or
orfacial granulomatosis.

Etiology:

 Cause is unknown.
 Genetic predisposition may exist in syndrome.

Clinical features:

 It is episodic with nontender swelling and enlargement of one or both lips.

 Occasionally similar swellings involve other areas including the periocular region.
 The first episode of edema typically subsides completely in hours or days.
 After recurrent attacks, swelling may persist and slowly increase in degree, eventually
becoming permanent.
 Recurrences can range from days to years.
 Attacks are sometimes accompanied by fever, mild headache, visual disturbance.
 The earliest manifestation is sudden diffuse or occasionally nodular swellings of the lip
or the face involving the upper lip, lower lip, and one or both cheeks.
 The forehead, eyelids on oneside of the scalp may be involved.
 Upper lip is involved slightly more often than the lower lip and it may feel soft, nodular
or firm on palpation.

18
  Once chronicity is established the enlarged lip appears cracked and fissured with reddish
brown discoloration and scaling.
 The fissured lip becomes painful and eventually acquires the consistency of firm rubber.
 Swelling may regress very slowly after some years.
 Regional lymph nodes are involved in 50% of cases.
 Patients may lose the sense of taste and have decreased salivary gland secretion.
 Facial palsy of the lower motor neuron type occurs in 30% of cases.
 Facial palsy is intermittent at first, but it may become permanent.
 It can be unilateral or bilateral, partial or complete.
 Other cranial nerves such as olfactory, auditory, glossopharyngeal and hypoglossal are
occasionally involved.
 Autonomic disturbances may occur.
 There is no racial and sexual predilection.
 Affects young adulthood.

Histopathology:

 Consists of a chronic inflammatory cell infiltrate particularly peri and paravascular

aggregations of lymphocytes, plasma cells and histiocytes and focal nonseating
granuloma formation with epitheloid cells an langhans type giant cells.

Differential diagnosis:

 Insect bites
 Sarcoidosis
Treatment:
 Intralesional corticosteroid injections
 NSAIDS
 Mast cell stabilizers
 Clofazimine and tetracycline
 Surgery

19
  Radiation
II. HEREDITARY INTESTINAL POLYPOSIS SYNDROME (PEUTZ JEGHERS
SYNDROME, INTESTINAL HAMARTOMATOUS POLYPS IN ASSOCIATION
WITH MUCOCUTANEOUS MELANOCYTIC MACULES)
 It is an autosomal dominant inherited disorder.
 It is characterized by intestinal hamartomatous polyps in association with mucocutaneous
melanocytic macules.
 There is an increased risk for development of cancer.

Etiology:

 Cause appears to be a germ line mutation of the STK 11 (serine threonine kinase II)
gene in most cases, located on band 19 p13.3.

Clinical features:

 Affects all races and it affects both males and females equally.
 Seen during 2nd decade of life.
 Presenting complaints include repeated bouts of abdominal pain in patients younger than
25yrs, unexplained intestinal bleeding in a young patient or menstrual irregularities in
females.
 Cutaneous pigmentation (1-5mm macules) of the perioral region crossing the vermilion
border, perinasal and perioral areas is seen.
 Pigmentation may also be present on the fingers and toes on the dorsal and ventral
aspects of the hands and feets and around the anus and genitalia.
 This pigmentation may fade after puberty.
 Mucous membrane pigmentation primarily affects the buccal mucosa and the intestinal
mucosa rarely.
 Other manifeatations include precocious puberty, prolapsed of tissue from the rectum,
rectal polyp, testicular mass, gynecomastia and growth acceleration.

20
Histopathology:

 Smooth muscle aborization throughout the polyp, with appearance of pseudoinvasion

because some of the epithelial cells, usually from benign glands are surrounded by
smooth muscle.

Treatment:

 Surgical treatment

LABIAL AND ORAL MELANOTIC MACULE

 Most focal melanin deposits of the oral mucosa which are not associated with race or an
appropriate syndrome are innocuous surface discolorations called oral melanotic macule
(focal melanosis)
 This entity represents not only a focal increase in melanin deposition but a concomitant
increase in the number of melanocytes.
 Unlike the cutaneous ephelis (freckle), the oral melanotic macule is not dependent on sun
exposure nor does it show the elongated rete ridges of actinic lentigo.

Clinical features:

 Female predilection
 Seen during 4th decade of life but can occur at any age.
 One third of the lesion occur on the vermilion border of the lower lip, but the buccal
mucosa, gingiva and palate are other sites of common occurrence.
 The typical macule is a well demarcated, uniformly tan to dark brown, asymptomatic,
round or oval discoloration less than 7mm in diameter.
 The lesion is not thickened and has the same consistency as surrounding mucosa.
 It tends to have an abrupt onset and seldom enlarges after diagnosis.

21
  A special case of melanosis called smokers melanosis is found on the gingival or buccal
mucosa in heavy smokers.
 It has an adult onset and is often associated with a concomitant superficial white or gray
keratosis.
 The keratosis may become thick enough to mimic Leukoplakia.
 Both the pigmentation and keratosis diminish or disappear once the tobacco habit is
stopped.

Histopathology:

 It is characterized by the normal stratified squamous epithelium with abundant melanin

deposits within the keratinocytes of the basal and parabasal layers.
 Deposits may also be seen within subepithelialstroma (melanin incontinence), perhaps
within macrophages or melanophages.
 There is no underlying inflammatory response.
 The melanin can be distinguished from iron deposits with melanin stains or by the loss of
brown color after bleaching.
 Brown formalin deposits can be differentiated by their association with erythrocytes
rather than with basal layer epithelial cells.

Treatment:

 No treatment is required for oral melanotic macule except for esthetic considerations.
 The intraoral melanotic macule has no malignant transformation potential.

22
III. DEVELOPMENTAL DISTURBANCES OF ORAL MUCOSA

1. FORDYCE’S GRANULES:
 This is a developmental anomaly characterized by heterotopic collections of sebaceous
glands at various sites in the oral cavity.

Clinical features:
 Appears as small yellow spots either discretely separated or forming relatively large
plaques often projecting slightly above the surface of the tissue.
 They are found in a bilaterally symmetrical pattern on the mucosa of the cheeks opposite
the molar teeth, but can also occur on the inner surfaces of the lips, in the retromolar region
lateral to anterior faucial pillar and occasionally on the tongue, gingiva, frenum and palate.
 Oral condition is seen in 80% of population.
 Because of the high incidence of these glands in the oral cavity knapp has suggested that
they be regarded as sebaceous nevi rather than ectopic glandular tissue.

Histopathology:

 They are identical with those seen normally in the skin but are not associated with hair
follicles.
 These glands are superficial and may consist of only a few or great many lobules all
grouped around one or more ducts which open on the surface of mucosa.
 These ducts may show keratin plugging.

Treatment:

 No treatment is required.

2. FOCAL EPITHELIAL HYPERPLASIA (HECK’S DISEASE)

23
  One of the most contagious of the oral papillary lesions in focal epithelial hyperplasia or
heck’s disease.
 It is an HPV induced epithelial proliferation first described in 1965 in native Americans.
 It is produced by subtypes HPV-13 & HPV-32.
 Mucosa appears 8-10 times thicker than normal.

Clinical features:

 Occurs primarily in children, but can occur in young and middle aged adults.
 No gender predilection.
 Common sites – labial, buccal & lingual mucosa; gingival, tonsillar lesions also have been
reported.
 Lesions are frequently papillary in nature, but relatively smooth surfaced, flat topped
lesions are commonly seen.
 Papules, plaques are usually the color of normal mucosa, but they may be pale or rarely
white.
 Hyperplastic lesions are small (0.3-1cm) discrete & well-demarcated, but they frequently
cluster so closely together that the entire mucosal area takes a cobbled stone or fissured
appearance.

Histopathological features:

 Epithelial hyperplasia in this disease presents microscopically as an abrupt & sometimes

considerable focal acanthosis of oral epithelium.
 Thickened mucosa extends upwards hence the lesionalreteridges are at the same depth as
the adjacent normal reteridges.
 The ridges themselves are widened, often confluent and sometimes club shaped; they are
not long & thin as in psoriasis & other diseases.
 Koilocytic changes similar to HPV infections.
 These presumably result from viral alteration of the cells.

24
  Virus like particles have been noted ultrastructurally within both cytoplasm & nucleus of
cells within spinous layer, and this layer is positive for HPV antigen with insitu
hybridization.
 The lesion is usually easily differentiated from squamous papilloma, verruca vulgaris &
condyloma by its lack of pronounced surface projections; the presence of mastoid cells &
lack of CT areas in the surface projections when present.
 FEH also tends to lack the pronounced elongation of thin reteridges seen in
keratoacanthoma & pseudoepitheliomatous hyperplasia & it lacks the central keratin
filled cor of the keratoacanthoma.
 It also lacks the sub epithelial foamy or granular histiocyte like cells required for the
diagnosis of verniciform xanthoma.

Treatment:

 Conservative excisional biopsy – for proper diagnosis

 Spontaneous regression has been reported after months or years & the disease is rare in
adults.
 Focal epithelial hyperplasia may be an oral manifestation of AIDS

IV. DEVELOPMENTAL DISTURBANCES OF GINGIVA

1. FIBROMATOSIS GINGIVA ( ELEPHANTIASIS GINGIVAE,
HEREDITARY GINGIVAL FIBROMATOSIS, CONGENITAL
MACROGINGIVAE)
 It is a diffuse fibrous over growth of the gingival tissues.
 The condition was hereditary, being transmitted through dominant autosomal gene.
 Other abnormalities have been reported in association with fibromatous gingiva, but of
these only hypertrichosis has been noted more than a few times.

HEREDITARY GINGIVAL FIBROMATOSIS

 It is a benign, idiopathic condition affecting both arches.

25
  Males & females are equally affected.
 Usually autosomal dominant.
 Gingiva are markedly enlarged, asymptomatic, non hemorrhagic, non exudative.
 It may be an isolated finding or associated with other syndromes.
 A relationship with growth hormone deficiency has been suggested.
 The condition is nodular form or more commonly symmetrical.
 Onset of the lesion begins with eruption of permanent teeth.
 This condition predisposes to malpositioning of teeth, retention of deciduous teeth,
esthetic & functional problems.
 Treatment is gingivectomy in one or several appointments.
 Recurrence is possible after some years.

Clinical features:

 Dense, diffuse, smooth or nodular overgrowth of one or both arches.

 Usually appears at the time of eruption of permanent incisors.
 It has been reported in very young children & in few instances at birth.
 Tissue is usually inflamed, but is of normal or pale color & it is often so firm & dense
that it may prevent the normal eruption of teeth.
 It is not painful & shows no tendency for hemorrhage.

Histopathological features:

 Microscopic picture is similar to that of fibrous hyperplasia.

 Epithelium may be some what thickened with elongated retepegs, although the bulk of
the tissue is composed of dense fibrous connective tissue.
 Bundles of collagen fibres are coarse & show few interspersed fibroblasts or blood
vessels.

Treatment:

26
  When tooth eruption is impeded, surgical removal of the excessive tissue & exposure of
the teeth is indicated.
 Lesion sometimes recurs.
 It has been reported that only tooth extraction cause shrinkage of the tissue to normal &
that recurrences can be prevented by this means.

2. RETROCUSPID PAPILLA

 It was first described by Hirschfeld in 1933, but not reported until 1957.
 It is a small elevated nodule located on the lingual mucosa of the mandibular cuspids.

Clinical features:

 It is soft, well circumscribed, sessile, mucosal nodule, commonly bilateral, is located

lingual to mandibular cuspid, between free gingival margin &mucogingival junction.
 Common in children.
 There appears to be regression of the structure with maturity.
 More common in females than in males.
 Greater occurrence bilaterally than unilaterally.

Histopathological features:

 It appears as an elevated tag often showing mild hyper orthokeratosis or hyper

parakeratosis, with or without acanthosis.
 Underlying connective tissue is sometimes highly vascularised & may exhibit large
stellate fibroblasts as well as occasional epithelial rests.

Treatment:

It is often considered as a normal anatomic structure which regresses with age & require no
treatment.

27
 V. DEVELOPMENTAL DISTURBANCES OF TONGUE

1. MICROGLOSSIA ( HYPOGLOSSIA)
 It is an uncommon developmental condition of unknown cause, that is charecterised by
an abnormal small tongue.
 In rare instances, virtually the entire tongue may be missing (aglossia).
 Most reported cases have been associated with one of a group of overlapping conditions
known as Oro – mandibular – limb hypogenesis syndrome.
 These syndrome features associated with limb anamolies such as hypodactylia ( absence
of digits) and hypomelia ( hypoplasia of part or all of limb)
 Other patients have had coexisting anamolies such as cleft palate, intra oral bands &
situsinversus.
 It is frequently associated with hypoplasia of mandible & the lower incisors may be
missing.

Treament:

 it depends on nature & severity of the condition.

 Surgery & orthodontics may improve oral function.
 Speech development often is quite good but depends on tongue size.

2. MACROGLOSSIA ( TONGUE HYPERTROPHY, PROLAPSYS OF

THE TONGUE, ENLARGED TONGUE, PSEUDO MACROGLOSSIA)
 It is an uncommon condition characterized by enlargement of the tongue.
 The enlargement may be caused by a wide variety of conditions including congenital
malformations & acquire diseases.
 The most frequent causes are vascular malformations & muscular atrophy.
 Some congenital syndromes often express macroglossia in their phenotypes, most commonly
Downs syndrome and Beckwith wiedemann syndrome.
 Beckwith wiedemann syndrome is a rare hereditary condition & it includes many other
possible defects apart from macroglossia such as:

28
 1. Omphalocele ( protrusion of part of the intestine through a defect in the abdominal
wall at the umbilicus).
2. Visceromegaly
3. Gigantism
4. Neonatal hypoglycemia
 2 broadest categories under macroglossia are:
a. True macroglossia
b. Pseudo macroglossia
 Severe retrognathia & unusually small maxillary & or mandibular size may indicate
pseudo macroglossia.
 Pseudo macroglossia include any of the following conditions, which force the tongue to
sit in the abnormal position:
1. Habitual posturing of the tongue
2. Enlarged tonsils & or adenoids displacing tongue
3. Low palate & decreased oral cavity volume displacing tongue.
4. Transverse, vertical or anterior/posterior deficiency in the maxillary or mandibular
arches displacing the tongue
5. Severe mandibular deficiency ( retrognathism)
6. Neoplasms displacing tongue
7. Hypotonia of tongue
 True macroglossia can be sub divided into 2 main sub categories: congenital causes &
acquired causes.
I. CONGENITAL CAUSES:
1. Idiopathic muscle hypertrophy
2. Gland hyperplasia
3. Hemangioma
4. Lymohangioma
5. Downs syndrome
6. Beckwith wiedemann syndrome
7. Behmel syndrome
8. Lingual thyroid

29
 9. Gargoylism
10. Transient neonatal diabetes mellitus
11. Trisomy 22
12. Laband syndrome
13. Lethal dwarfism of blomstrand
14. Mucopolysaccharidoses
15. Skeletal dysplasia of urbach
16. Tollner syndrome
17. Autosomal dominant inheritance
18. Microcephaly & hamartoma of weidemann
19. Ganglioside storage disease typeI
20. Neurofibromatosis type I
21. Multiple endocrine neoplasia type 2B
II. ACQUIRED CAUSES:
1. Metabolic / endocrine
2. Edentulous patients
3. Amyloidosis
4. Myxedema
5. Acromegaly
6. Angioedema
7. Carcinoma & other tumours

Clinical features:

 Commonly occurs in children & can range from mild to severe.

 In infants, it may be manifested first by noisy breathing, drooling & difficulty in eating.
 Tongue enlargement may result in lisping speech.
 The pressure of tongue against the mandible & teeth can produce a crenated lateral border
to the tongue, open bite & mandibular prognathism.
 If the tongue constantly protrudes from the mouth, it may ulcerate & become secondarily
infected or may even undergo necrosis.
 Severe macroglossia may produce air way obstruction.

30
  Individuals with Beckwith wiedemann syndrome have an increased risk for several
childhood visceral tumours including Wilm’s tumor, adrenal carcinoma, hepatoblastoma,
rhabdomyosarcoma & neuroblastoma.
 In patients with hypothyroidism or Beckwith wiedemann syndrome, the tongue usually
shows a diffuse, smooth, generalized enlargement.
 In those with other forms of macroglossia, the tongue usually has a multinodular
appearance.
 Examples of nodular type l include;
1. Amyloidosis
2. Neoplastic conditions such as neurofibromatosis
3. Multiple endocrine disease type 2 B
 In patients with lymphangiomas, the tongue surface is characteristically pebbly &
exhibits multiple vesicle like blebs that represent superficial dilated lymphatic channels.
 The enlarged tongue in those with Downs syndrome typically demonstrate a papillary
fissured surface.
 In patients with hemifacial hyperplasia, the enlargement will be unilateral.
 Some patients with neurofibromatosis also can have unilateral lingual enlargement.
 In edentulous patients, the tongue often appears elevated & tends to spread out laterally
because of loss of the surrounding teeth, as a result, wearing a denture become difficult.

Histopathological features:

 Microscopic appearance depends on specific cause.

 In cases, such as tongue enlargement seen with Downs syndrome or in edentulous
patients, no histologic abnormality is detected.
 When macroglossia is due to tumor, a neoplastic proliferation of a particular tissue can be
found ( e.g lymphatic vessels, blood vessels, neural tissue)
 Muscular enlargement occurs in those with hemi hyperplasia & Beckwith wiedemann
syndrome.
 In patients with amyloidosis, an abnormal protein material is deposited in the tongue.

Treatment:

31
  Treatment & prognosis depends on cause & severity of the condition.
 Mild cases, speech therapy may be helpful if speech is affected.
 In symptomatic patients,
 Reduction glossectomy may be needed.
3. ANKYLOGLOSSIA OR TONGUE TIE
 It is a developmental anamoly of the tongue characterized by a short, thick lingual
frenum resulting in limitation of tongue movement.
 It occurs when the inferior frenulum attaches to the bottom of the tongue.
 At one time, such restriction was believed to cause speech problems & it was routine to
clip the membranous frenulum ( frenulectomy) to free the tongue tip.
 It has been reported to occur in 1.7% to 4.4% neonates.
 It is 4 times more common in boys than girls.
 Severe ankyloglossia is relatively uncommon condition that has been estimated to occur
in about 2 to 3 of every 10,000 people.

Clinical features:

 It can range in severity from mild cases with little clinical significance to rare examples
of complete ankyloglossia in which the tongue is actually fusedd to the floor of the
mouth.
 Sometimes the frenum extends forward & attaches to the tip of the tongue & slight
clefting of the tip may be seen.
 Tongue tie results in speech defects especially articulation of the sounds: I, r, t, d, n, th,
sh& z.
 Tongue tie can cause feeding problems in infants.
 Some ankyloglossia cases can be associated with an upward & downward displacement
of the epiglottis & larynx, resulting in varying degrees of dyspnea.

Treatment:

 For infants with specific breast feeding problems, a frenotomy can be performed.

32
  In children or adults with associated functional or periodontal difficulties, a frenuloplasty
may allow greater freedom of tongue movement.
 In young children, it is often recommended that surgery be postponed until age 4 or 5.
 Th condition is self correcting probably in many cases because it is uncommon in adults.

4. CLEFT TONGUE
 A completely cleft or bifid tongue is a rare condition that is apparently due to lack of
merging of the lateral lingual swellings of this organ.
 A partially cleft tongue is more common and is manifested simply as a deep groove in the
midline of the dorsal surface.
 The partial cleft results because of incomplete merging and failure of groove obliteration
by underlying mesenchymal proliferation.
 Interestingly, it is often found as one feature of the orofacial digital syndrome in
association with thick, fibrous bands in the lower anterior mucobuccal fold eliminating
the sulcus & with clefting of the hypoplastic mandibular alveolar process.
 It is of little clinical significance except that food debris and micro organisms may collect
in the base of the cleft and cause irritation.

5. FISSURED TONGUE ( SCROTAL TONGUE, LINGUA PLICATA)

 It is a relatively common condition seen in general population and it is characterized by
grooves that vary in depth and are noted along the dorsal & lateral aspects of the tongue.

Etiology:

 Cause is uncertain, but heredity appears to play a significant role.

 Evidence indicates that the condition may be either a polygenic trait or an autosomal
dominant trait with incomplete penetrance.
 Aging or local environmental factors also may contribute to its development.
 It is also seen in Melkersson – Rosenthal syndrome & Downs syndrome and in frequent
association with benign migratory glossitis.

33
  Melkersson – Rosenthal syndrome is a rare condition consisting of a triad of persistent or
recurring lip or facial swelling, intermittent facial nerve paralysis and a fissured tongue.

Clinical features:

 It is a totally benign condition & is considered by most to be a variant of normal tongue

architecture.
 Patients exhibit multiple grooves, furrows on the surface of the tongue ranging from 2-
6mm in depth.
 Male predilection.
 It is diagnosed initially during childhood more frequently diagnosed during adulthood.
 The prominence of the condition appears to increase with increasing age.
 In most severe cases, numerous fissures cover the entire dorsal surface and divide the
tongue papillae into multiple separate islands.
 Some patients have fissures that are located mostly on the dorsolateral areas of the
tongue.
 The condition is usually asymptomatic although some patients may complain of burning
or soreness.
 A strong association has been found between fissured tongue & geographic tongue, with
many patients having both conditions.

Histopathological features:

 Increase in thickness of the lamina propria.

 Loss of filiform papillae of the surface mucosa.
 Hyperplasia of retepegs.
 Neutrophilic microabscesses within the epithelium.
 Mixed inflammatory infiltrate in the lamina propria.

Treatment:

No definitive therapy or medication is required.

34
6. MEDIAN RHOMBOID GLOSSITIS
 Embryologically, the tongue is formed by 2 lateral processes ( lingual tubercles) meeting
in the midline and fusing above a central structure from the first & second branchial arches, the
tuberculum impar.
 The posterior dorsal point of fusion is occasionally defective, leaving a rhomboid shape,
smooth erythematous mucosa lacking the papillae or taste buds.
 This median rhomboid glossitis ( central papillary atrophy, posterior lingual papillary
atrophy) is a focal area of susceptibility to recurring or chronic atrophic candidiasis
prompting a recent shift towards the use of posterior midline atrophic candidiasis as a
more appropriate diagnostic term.
 The erythematous clinical appearance moreover is due primarily to the absence of
filiform papillae rather than to local inflammatory changes.
 The lesion is found in one of every 300-2000 adults.

Clinical features:

 It is present in the posterior midline of the dorsum of the tongue just anterior to the v-
shaped grouping of the circumvallate papillae.
 The long axis of the rhomboid or oval area of red depapillation is in the antero –
posterior direction.
 Male predilection.
 Most diagnosed during middle age but can be seen in childhood.
 Lesions with atrophic candidiasis are usually more erythematous but some respond with
excess keratin production, and therefore show a white surface change.
 Infected cases may also demonstrate a midline soft palate erythema in the area of routine
contact with the underlying tongue involvement, this is commonly reffered to as ‘kissing
lesion’.
 Lesions are typically less than 2cm in greatest dimension & most demonstrate a smooth,
flat surface although it is not unusual for the surface to be lobulated.

Differential diagnosis:

35
 1. Gumma of tertiary syphilis
2. Granuloma of tuberculosis
3. Deep fungal infections
4. Granular cell tumor

Histopathological features:

 Shows a smooth or nodular surface covered by atrophic stratified squamous epithelium

overlying a moderately fibrosed stroma with somewhat dilated capillaries.
 Fungiform & fililorm papillae are not seen, although surface nodules may mimic or
perhaps represent analage of these structures.
 A mild to moderately intense chronic inflammatory cell infiltrate may be seen within
Subepithelial & deeper fibrovascular tissues.
 Chronic candidial infection may result in excess surface keratin or extreme elongation of
rete processes with individual cells or as epithelial pearls ( dyskeratosis) deep in the
process.

Treatment:

 No treatment is necessary.
 Anti fungal therapy will reduce clinical erythema & inflammation due to candida
infection.

7. BENIGN MIGRATORY GLOSSITIS ( GEOGRAPHIC TONGUE)

 It is a psoriasiform mucositis of the dorsum of the tongue.
 Its dominant characteristic feature is constantly changing pattern of serpinginous white
lines surrounding areas of smooth depapillated mucosa.
 The changing appearance has led some to call this the wandering rash of the tongue, with
the depapillated areas have reminded others of continental outlines on a globe, hence the
use of popular term geographic tongue.
 It occurs & become more prominent during conditions of psychological stress & is found
with increased frequency in persons with psoriasis of the skin.

36
  The great majority of those with oral involvement however lack psoriatic skin
involvement.

Histopathological features:

 A thickened layer of keratin is infiltrated with neutrophils in lower portions of

epithelium to a lesser extent. The se inflammatory cells often produce small
microabscess, called monro’s abscesses, in the keratin and spinous layers.
 Rete ridges are thin and elongated, with only a thin layer of epithelium overlying
connective tissue capsule.
 Chronic inflammatory cells can be seen in variable numbers within the stroma.
 There is no liquefactive degeneration of basal cells.

Treatment:

 No treatment is necessary.

8. HAIRY TONGUE (LINGUA NIGRA, LINGUA VILLOSA, LINGUA VILLOSA

NIGRA, BLACK HAIRY TONGUE, COATED TONGUE)
 It is characterized by marked accumulation of keratin on the filiform papillae of the
dorsal tongue, resulting in a hair like appearance.
 The condition represents an increase in keratin production or a decrease in normal keratin
desquamation.
 The condition is frequently reffered to as black hairy tongue.
 However hairy tongue may also appear brown, white, green, pink or any of a variety of
hues depending on the specific etiology and secondary factors.
 Although the cause is uncertain many affected people are heavy smokers.
 Other associated factors include general deabilitation, poor oral hygiene and a history of
radiation therapy to head and neck.

Clinical features:

 Normal filiform papilla are 1mm in length whereas in hairy tongue it is more than 15mm
in length.
37
  More common in males, HIV, use intravenous drugs.
 Most commonly affects the midline just anterior to the circumvallate papillae, sparing the
lateral and anterior borders.
 The elongated papilla are usually brown, yellow or black as a result of pigment producing
bacteria or staining from tobacco and food.
 Asymptomatic, but some times burning tongue is reported.
 In more severe cases patients complain of gagging sensation.

Differential diagnosis:

1. Candidiasis
2. Leukoplakia
3. Lichen planus
4. Oral hairy Leukoplakia

Histopathology:

 It consists of elongated filiform papilla with mild hyperkeratosis and occasional

inflammatory cells.
 Usually numerous bacteria can be seen growing on the epithelial surface.

Treatment:

 Brushing of tongue with a tooth brush or commercially available tongue scraper is

sufficient to remove elongated filiform papilla and retard the growth of additional ones.
 Surgical removal for papilla using electrodissection, carbondioxide laser, scissors is the
treatment of last resort when less complicated therapies prove ineffective.
 Prognosis is excellent.

VI. DEVELOPMENTAL DISTURBANCES OF SALIVARY GLANDS

1. APLASIA (AGENESIS)
 It is a condition in which one or group of salivary glands may be absent unilaterally or
bilaterally.
 It becomes manifest with the development of xerostomia.

38
  It may occur for unknown reasons as an isolated finding or in conjunction with other
developmental defects such as hemifacialmicrostomia, LADD syndrome and mandibulo
facial dysostosis.
 Salivary loss leads to increased caries, burning sensation, oral infections, taste aberrations
and difficulty with denture retention.

Hemifacialmicrostomia:

 It is frequently characterized by an asymmetric mild to severe underdevelopment of the

craniofacial skeleton, the external ear, and facial soft tissues including the parotid gland.
 It involves structures derived from the first and second branchial arches.

LADD:

 It is a hereditary autosomal dominant syndrome.

 The lacrimal apparatus usually demonstrates occlusion of the lacrimal puncta,
nasolacrimal duct obstruction with overflow of tears, lacrimal sac inflammation and
lacrimal gland aplasia.
 The auricles are deformed with the ear having a cup shaped appearance. There is some
hearing loss.
 Dentally, peg shaped teeth, hypodontia and enamel hypoplasia are noted, various
combinations of salivary gland agenesis, with varying degrees of xerostomia are present.
 Digital deformities are manifested by deviation of the fingers medially or laterally.

Mandibulofacialdysostosis:

 It is familial in origin.
 Patients have a symmetric notching of the lower eyelids with the eyes slanting downward
at the lateral border.
 Maldevelopment of maxilla and mandible, a defective development of malar bones
results in bird like appearance and often salivary aplasia are seen.

Treatment:

 Supportive and directed at relieving xerostomia and its effects.

39
  Salivary substitutes, frequent mouthwashes, comprehensive dental care, fluoride therapy
and good oral hygiene.

2. XEROSTOMIA (DRY MOUTH)

 It is not a disease but can be a symptom of certain diseases.
 It can produce serious negative side effects on the patients quality of life, affecting
dietary habits, nutritional status, speech, taste, tolerance to dental prosthesis and
increased susceptibility to dental caries.

Etiology:

1. Temporary causes:
a. Psychological
b. Duct calculi
c. Sialoadenitis
d. Drug therapy

2. Permanent causes:
a. Salivary gland aplasia
b. Sjogren’s syndrome
c. Diabetes mellitus
d. Parkinson’s disease
e. Cystic fibrosis
f. Sarcoidosis
g. Radiotherapy
h. Surgical desalivation

Clinical features:

 A more typical case of nonspecific xerostomia is a postmenopausal woman, living alone

with few family or other social contacts, surviving on a low income and a marginally
inadequate diet and wearing old ill fitting dentures.
 All degrees of xerostomia exist.

40
  Patients complain of a dry or burning sensation but the mucosa appears normal.
 In other cases there is a complete lack of saliva.
 The mucosa will appear dry and atrophic sometimes inflamed or more often pale and
translucent.
 Tongue may manifest atrophy of the papilla, inflammation, fissuring and cracking and in
severe cases by areas of denudation.
 Soreness, burning and pain of the mucous membrane and tongue are common symptoms.

Clinical significance:

 In many cases chronic xerostomia predisposes to rampant dental caries and subsequent
loss of teeth.
 Patients with xerostomia have difficulty with artificial dentures.

Treatment:

 The basic principles of management are

1. To eliminate or address any etiological factors such as drugs, calculi and emotitonal
problems.
2. It is also advisable to promote salivary stimulation by using sugar free chewing gum
which is effective and convenient.
3. Salivary substitutes can also be given.
4. Regular review to monitor the condition of teeth, gingiva and mucosa and to give
support and reinforcement of preventive measures is adviced.

3. HYPERPLASIA OF PALATAL GLANDS:

 It is an unusual localized hyperplasia or hypertrophy of minor salivary glands in the
palate.
 It has been described by Giansanti and his associates.
 It may represent benign adenoma of these glands.

Etiology:

1. Endocrine disorders

41
 2. Gout
3. Diabetes mellitus
4. Menopause
5. Hepatic disease
6. Starvation
7. Alcoholism
8. Inflammation
9. Benign lymphoepithelial lesion
10. Sjogrens syndrome
11. Adiposity, hyperthermia, oligomenorrhea and parotid swelling syndrome
12. Aglossia-actadylia syndrome
13. Waldenstromsmacroglobulinemia
14. Uveoparotid fever
15. Felty’s syndrome
16. Certain drugs
17. Aging process

Clinical features:

 It presents as small localized swelling measuring from several mm to 1cm or more in

diameter, usually on the hard palate or at the junction of hard and soft palate.
 The lesion has an intact surface and is firm, sessile and normal in color
 Usually asymptomatic and patient may be unaware of the lesion.

Histopathology:

 Mass appears as closely packed collections of normal appearing mucous acini with the
usual intermingling of normal ducts.
 There is no inflammation, no spillage of mucin and no fibrosis.

Treatment:

 Excision for microscopic examination

 No firther treatment is necessary and the condition is not reported to occur.

42
4. ATRESIA
 It is a congenital occlusion or absence of one or more of the major salivary gland
ducts.
 It is a rare condition.
 When it occurs it results in the formation of retention cysts or produce a relatively
severe xerostomia.

5. ABERRANCY:
 Because of widespresd distribution of normal accessory salivary glands in the oral
cavity, it is difficult to define the condition of aberrancy.
 Such accessory glands may be found in the lips, palate, buccal mucosa, floor of the
mouth, tongue and retromolar area.
 Aberrancy is simply that situation in which these glands are found farther than normal
from their usual location.
 It has been found in many instances that this glandular tissue anatomically
communicated with the normal submaxillary or sublingual gland, generally through a
stalk or pedicle of tissue which perforated the lingual cortical plate.

VII) DEVELOPMENTAL DISTURBANCES OF ORAL LYMPHOID TISSUE

1. Reactive lymphoid aggregate (Reactive lymphoid hyperplasia)
2. Lymphoid hamartoma (Angio follicular lymph node hyperplasia, angiomatous lymphoid,
castlemantumour, gaint benign lymphoma, hamartoma of lymphatics, gaint lymph node
hyperplasia)
3. Angiolymphoid hyperplasia with Eosinophillia (Epitheloid hemangioma, histiocytoid
hemangioma, pseudopyogenic granuloma, paplular angioplasia, inflammatory
angiomatous nodule)
4. Lymphoepithelial cyst

43
1. REACTIVE LYMPHOID AGGREGATE:

This anomaly is also known as reactive lymphoid hyperplasia. The lingual tonsil, one of the
largest oral lymphoid aggregates, is located on the posterior portion of the tongue on the
dorsolateral aspect. It is typically surrounded by a crypt lined by stratified squamous epithelium.
It frequently becomes inflamed and enlarged so that it is clinically evident. Such enlargement is
usually bilateral but, if unilateral, may easily be mistaken clinically for early carcinoma. This
reactive lingual tonsil has often been called 'foliate papillitis,' referring to the vestigial foliate
papilla in this area.

Similar reactive hyperplasia may occur in the lymphoid aggregates in the other locations
mentioned previously, the buccal mucosa being especially common.

This presents clinically as a firm nodular submucosal mass which may be tender. Since
this lymphoid tissue may be the site for the development of lesions of the malignant lymphoma
group, early microscopic diagnosis is essential whenever the lesions do not regress in a short
period of time. Hyperplastic lymphoid polyps have also been described as polypoid structures
composed entirely of lymphoid tissue. They are reported to occur on the gingiva, buccal mucosa,
tongue, and floor of the mouth.

2. LYMPHOID HAMARTOMA

Synonyms for this condition are Angio follicular lymph node hypoplasia, angiomatous
lymphoid, Casthman tumor, giant benign lymphoma, hamartoma of the lymphatics, giant lymph
node hyperplasia.

Castleman's disease is a rare disorder characterized by noncancerous benign growths that may
develop in the lymph node tissue throughout the body (i.e. systemic disease of plasma cell type).
Most often, they occur in the chest, stomach, and or neck. Less common sites include the armpits
(axilla), pelvis and pancreas. Usually the growths represent abnormal enlargement of the lymph
nodes normally found in these areas (lymphoid hamartoma). There are two main types of
Castleman's disease: hyaline-vascular type and plasma cell type. The hyaline vascular type
accounts for approximately 90 per cent of the cases. Most individuals exhibit no symptoms of

44
this form of the disorder (asymptomatic) or they may develop noncancerous growths in the
lymph nodes.

The plasma cell type of Castleman's disease may be associated with fever, weight loss,
skin rash, early destruction of red "blood cells, leading to unusually low levels of circulating red
blood cells (hemolytic anemia), and abnormally increased amounts of certain immune factors in
the blood (hypergammaglobulinemia). A third type of Castleman's disease has been reported in
the medical literature. This type may affect more than one area of the body (multicentric or
generalized Castleman's disease). Many individuals with multicentric Castleman's disease may
exhibit an abnormally large liver and spleen (hepatosplenomegaly). The exact cause of
Castleman's disease is not known. Some researchers speculate that increased production of
interleukin- 6 (IL-6) may be involved in the development of Castleman's disease. IL-6 is a
substance produced by structures within the lymph nodes.

3. ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA

Synonyms are epithelioid hemangioma, histiocytoid hemangioma, Pseudo pyogenic

granuloma, papular angioplasia, inflammatory angiomatous nodules)

Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon idiopathic

condition that presents with isolated or grouped plaques or nodules in the skin of the head and
neck. Most patients present with lesions in the periauricular region, forehead, or scalp. A distinct
pathologic entity, ALHE is marked by a proliferation of blood vessels with distinctive large
endothelial cells. These blood vessels are accompanied by a characteristic inflammatory infiltrate
that includes eosinophils. The lesion is benign but may be persistent and difficult to eradicate.
Whether ALHE represents a benign neoplasm or an unusual reaction to varied stimuli, including
trauma, remains unclear. While ALHE shows some similarity to Kimura disease it is a distinct
condition.

Etiology
ALHE is idiopathic. Whether this condition is a neoplastic or reactive state is uncertain; a
reactive cause is favoured. Although ALHE may be a benign tumor, numerous factors suggest
that it is an unusual reactive process. The condition may be multifocal. ALHE has occurred
following various forms of trauma or infection. Hyperestrogenemic states (like pregnancy, oral

45
contraceptive use) may foster lesion growth. Additionally, the distinctive inflammatory infiltrate
in ALHE appears to be an intrinsic component of the lesion. Approximately 20 per cent of
patients have blood eosinophilia.

Clinical Features
Although frequency is unknown, cases have been reported worldwide. ALHE is
uncommon but not rare it may be more common in Japan than in other countries. ALHE can
persist for years, but serious complications e.g. malignant transformations do not occur. ALHE is
seen most commonly in Asians, followed by Caucasians.

Although less commonly, blacks too can develop ALHE. ALHE is somewhat more
common in females however a male predominance has been noted in selected Asian studies.
ALHE presents most commonly in patients aged 20-50 years, with mean onset of 30-33 years.
This condition is rare in elderly patients and in the non-Asian pediatric population.

Patients with ALHE typically present with an expanding nodule or group of nodules,
usually in the vicinity of the ear. The lesion may be associated with pain or pruritus. Uncommon
symptoms include pulsation and spontaneous bleeding. Approximately 85 per cent of lesions
occur in the skin of the head and neck; most of them are on or near the ear or on the forehead or
scalp. The lesions range from erythematous to brown and may be eroded or crusted. Rarely, the
lesions may be pulsatile. Most lesions are 0.5-2 cm in diameter, with a range of 0.2-8 cm.

Differential Diagnosis
a) Granuloma faciale
b) Insect bites
c) Pyogenic granuloma
d) Angiosarcoma
e) Hemangioendothelioma
f) Hemangioma
Treatment
Treatment is not mandatory; Intralesional corticosteroids and irradiation have been
employed but are not very effective. Surgical removal of the lesions has demonstrated the best
results however they may recur.

46
4. LYMPHOEPITHELIAL CYST

The oral lymphoepithelial cyst develops within a benign lymphoid aggregate or accessory
tonsil of the oral or pharyngeal mucosa. The surface of such aggregates may be indented with
tonsillar crypts, the much larger pharyngeal tonsils of the lateral pharyngeal walls. The crypts
may become obstructed by keratin or other debris, or the surface opening may become
constricted during episodes of inflammatory hyperplastic responses. Certain cases develop a
complete disunion of the crypt epithelium from the surface epithelium, resulting in a
subepithelial cyst lined by the old crypt epithelium.

This cyst was first reported by Parmentier in 1857 as hydatid cyst. Outside of the head
and neck region, lymphoepithelial cyst is found most frequently in the pancreas and testis.

Clinical Features
Oral lymphoepithelial cyst presents as a movable, painless submucosal nodule with a
yellow or yellow-white discoloration. Occasional cysts are transparent. Almost all cases are less
than 0.6 cm in diameter at the time of diagnosis, which is usually during the teen years or the
third decade of life. Approximately half of all intraoral examples are found on the oral floor but
the lateral and ventral tongue are not uncommon sites of occurrence, nor is the softpalate,
especially the mucosa above the pharyngeal tonsil.. Occasional superficial cysts rupture to
release a foul-tasting, cheesy, keratinaceous material.

This cyst has a clinical appearance similar to that of an epidermoid cyst or a dermoid cyst
of pharyngeal mucosa, but its growth potential much less than the other cysts. The
lymphoepithelial cyst never occurs on the alveolar mucosa, hence, can easily be distinguished
from a gingival cyst adults or from an unruptured parulis or 'pus pocket at the terminus of a
fistula.

Treatment and prognosis

No treatment i s usually necessary for the oral lymphoepithelial cyst unless its location is
such that it is constantly being traumatized. Most lesions are, however, removed by conservative
surgical excision in order to arrive at a definitive diagnosis. There is no malignant potential to
this lesion but the lymphoid stroma, as with all lymphoid tissues, can become involved with an
extranodal lymphoma.

47
REFERENCES:

 Shafer’s textbook of oral pathology 7th edition

 Shafer’s textbook of oral pathology 5th edition

 Langman’s medical embryology 12th edition

 Neville, Oral and Maxillofacial Pathology 2nd edition

 Marx, Oral and Maxillofacial Pathology, 1st edition

 Cawson’s Essentials of Oral Pathology and Oral Medicine 7th edition

 Contemporary Oral and Maxillofacial Pathology - phillip swap 2nd edition

48