Developmental Disturbances of Face and jaw By yours: Karim Sedky

1. Oral Mucosa

1.1. Fordyce Granule

1.1.1. ectopic condition in which sebaceous gland develop in oral mucosa

1.1.2. clinical appearance : appear as single or multiple pin head size papules symmetrical

1.1.3. in buccal mucosa in 3rd molar region and on lips, behind oral commissure and as far back as anterior pillars of fauces

1.1.4. overlying mucosa is smooth and it is slightly elevated

1.1.5. histopathology presence of sebaceous gland consisting of 1-20 lobules lying free in dermis related to epidemis directly or through duct wich may be bloclked by keratin not related to hair follicle

1.2. White Spongy Naevus ( White Folded Gingivostomatosis )

1.2.1. Hereditary condition of oral mucosa which is congenital often appears at birth and persists

1.2.2. clinically: grayish white spongy areas of oral mucosa with fissures and folds

1.2.3. the lesion resembles diffuse leukopakia and tend to be spongy upon palpation have symmetric wavy pattern

1.2.4. entire oral mucos is involved most frequently buccal mucosa, floor of mouth and ventral surface of tongue

1.2.5. histo pathology intact basal layer with acanthosis and intercellular and intracellular edema or vaculation of prickle cell layer showing basket weave appearance

1.2.6. with hyper keratosis and parakeratosis and mild chronic inflammatory infiltrate

1.2.7. Type of Hemartoma which is normal tissue in abnormal site with excessive presentation

1.2.8. has hyperkeratanization

1.3. Bohn's nodules

1.3.1. small discrete white swelling on gingiva of infants representing small cyst arise from degeneration of remnants of dental lamina

2. Developmental disturbance of face and jaw

2.1. Treacher collins syndrome

2.1.1. clinical manifestations: 1-antimongloid papebral fissure+ coloboma of outer portion of lower eye lids +deficiency of eye lids 2- notching of outer third of lower eye lids+ abscent eye lashes 3-hypoplasia of facial bones such as zygoma and mandible 4- maflormation of ear 5- macrostomia high arched palate and maloclusion 6-blind fistulae between ears and angle of mouth 7-tongue shaped projection of hair line towards cheeks

2.1.2. Mandibulo facial dysostosis

2.2. Pierre-Robin syndrom

2.2.1. hypoplasia of mandible and falling back of tongue obstructing airway causing cyanosis and asphyxia

2.2.2. clinical presentation: mandible small glossoptosis and cleft palat

2.3. Cleft Lip and Palate

2.3.1. Etiology: inheritance, genetic mutation or vitamin A deficiency

2.3.2. Clinical Feautures :classified into pre alveolar alveloar post alveolar, union of embryonic processes starts at incisive foramen incisive foramen least often cleft unike lip border and uvula

2.3.3. Cleft lip: range from notch to broad cleft from border of lip to floor of nose + cleft of alvelous and palate associated

2.3.4. 6 upper lip:

2.3.4.1. unilateral incomplete

2.3.4.2. unilateral complete

2.3.4.3. bilateral complete

2.3.4.4. mixed

2.3.4.5. midline

2.3.5. in complete double cleft portion of lip prolabium globular process is isolated on collumella it is devoid of muscle and shows no philtrum

2.3.6. Cleft of the alveolus: pass through region of upper lateral which may be abscent develop medial or lateral to cleft or mat be doubled

2.3.7. cleft palate: cleft uvula/cleft uvula +s.p/cleft uvula +s.p+h.p/ complete :alveolus+ palate

2.3.8. complete bilateral cleft may be comm extending from incisive foramen to alvelous and lip

2.3.9. premaxilla remain suspended from nasal septum

2.4. oblique facial cleft

2.4.1. runs from inner canthus of eye to ala of nose or upper lip along path of nasolacrimal duct

2.4.2. very rare due to failure of fusion of maxillary and lateral nasal process

2.4.3. always associated with celft lip cleft palate or facial cleft

2.5. Transverse facial Cleft

2.5.1. cleft running from angle of mouth toward ear

2.5.2. due to failure of fusion along line between maxillary and mandibular process

2.5.3. ascosiated with anomalies of extremities, micrognathia, supernumerary , ear tags , congenital heart defects, other facial clefts

2.6. Macro and microstomia

2.6.1. excessive large mouth due to premature fusion of arrest between maxillary and mandibular process bilaterally could be considered as incomplete facial cleft

2.6.2. microstomia: abnormal small mouth due to excessive fusion between mandibular and maxillary process

2.7. Facial Hemihypertrophy

2.7.1. congenital malformation where one half of face and jaw is larger than other

2.7.2. associated with mental retardation

2.7.3. Etiology: vascular, neurogenic, hereditary factors

2.7.4. Oral manifestation: affected side has abnormal large teeth especially canine premolars and first molars

2.7.5. roots abnormally large or small

2.7.6. early shedding of decideous + eruption of permenant

2.7.7. tongue enlarged on affected side with hypertrophic fungifrom papillae

2.7.8. soft tissue and jaw unilaterally enlarged

3. Developmental disturbance of lip

3.1. Lip pits

3.1.1. are shallow depressions of varying depth several milimiters on either lip or at commissures present a less severe expression of genetic disease casuing cleft lip

3.1.2. tract may be till minor salivary gland and pressure produces saliva

3.1.3. congenital blind epithelial lined pits occur on vermillion border of either lip more in lower

3.2. Cheilitis Glandularis Apostomatosa

3.2.1. uncommon, unknown etiology where lip becomes enlarged firm and everted exposing openings of labial mucosa glands with glands becoming enlarged nodular and orofices of ducts

3.2.2. inflamed and giving labial mucosa a red macular appearance

3.2.3. in males more and malignant transformation may occur

3.2.4. in lower lip

3.2.5. named abscess which is misnomer (wrong name) as it is a 2ry response

3.2.6. shows multiple abscess due to allergy to dust

3.3. Chelitis Granulomatosa

3.3.1. chronic firm swelling usually in upper lip

3.3.2. associated with melkerson rosenthal in addition to recurrent facial paresis as well as fissured tongue

3.3.3. histopathology chronic inflammatory cells infiltrate with scattered granulomata containing some epithelioid cells, few giant cells are sometimes present

4. Palate

4.1. Torus Palatinus

4.1.1. developmental frquently hereditary malformation appearing as single or multiple bony excresences in midline of palate

4.1.2. flat and fusiform or lobulated and nodular covering mucosa is thin

4.1.3. histopathology composed of compact or cancellous bone covered by compact bone

5. Developmental disturbances of tongue

5.1. aglossia

5.1.1. congenital abscence of tongue, rare

5.1.2. due to failure of development of paired elevations of ventro medial aspect of first branchial arch and their subsequent fusion with tuberculum impar and each other

5.1.3. tongue merely represented by nodular elevation in middle floor of mouth tuberculum impar

5.1.4. clinical significance: speech, mastication affected

5.2. Microglossia

5.2.1. tongue is small

5.3. Macroglossia

5.3.1. large tongue: congenital acquired acute or chronic

5.3.2. congenital observed in cretinism, mongolism,lymphangioma, cavernous haemangioma due to fibrous or muscular hypertrophy

5.3.3. Chronic ACQUIRED: in myxoedema, acromegaly, lymphangiona, results from injury causing prgressive increase in tongue size with small vesicles producing serous fluid

5.3.4. also results from primary amyloidosis ,papilloma, lipoma, carcinoma, sarcoma, actinomycosis, syphilis , and tuberculosis of tongue

5.3.5. acquired macroglossia: the edges are crenated or scalloped where teeth and interdental space meet tongue

5.4. Ankyloglossia

5.4.1. tongue restrained in movment

5.4.2. complete ankyloglossia is due to failure of seperation of tongue from floor of mouth

5.4.3. partial ankyloglossia: due to abnormal short lingual frenum or attached too near to tip of tongue

5.4.4. superior ankyloglossia associated with cleft palate dorsum of tongue joined by membrane to one side of cleft

5.4.5. acquired ankyloglossia: due to infection, trauma, tumor radiation in floor of mouth and ventral surface of tongue

5.4.6. hypermobility due to abnormal long frenum may allow tongue to slip back and cause suffocation

5.5. Cleft tongue (bifid)

5.5.1. congenital defect complete or partial cleft running anteroposteriorly from tip backwards

5.5.2. due to arrest of development resulting in failure of 2 lateral mandibular masses to fuse infront of tuberculum impar

5.5.3. bifid in tip of tongue

5.6. Median Rhomboidal Glossitis

5.6.1. due to persistance of tuberculum impar on dorsum of tongue due to failure of 2 lateral mandibular process to submerge it

5.6.2. clinically: reddish depapillated, raised, round or ovoid smooth or tuberculated

5.6.3. painless mass elevation on dorsum of tongue or anterior to foramen cecum and circumvallate papillae along median palatine raphe

5.6.4. term is a misnomer since it is rarely rhomboidal and not inflammatory in origin

5.6.5. male more affected and has no harm

5.6.6. if it is in adult then it is usually a fungal infection

5.7. Lingual thyroid nodule

5.7.1. development of thyroid gland involves migration of epithelial cells through thyroglossal tract from floor of pharynx to position lateral and ventral to trachea where caudal cells of tract differentiate into thyroid secreting tissue

5.7.2. thyroglossal tract descend in midline of neck in front the second branchial arch to its normal destined position

5.7.3. deficient migration in area of foramen cecum lead to thyroid tissue being restricted to site of origin

5.7.4. considered ectopic condition: normal tissue in abnormal site

5.7.5. clinically near midline from foramen cecum of tongue appears as nodule slightly elevated from surface and yellowish white

5.7.6. implications: maybe traumatized may predisose to adenocarcinoma scanning neck through injection of radioactive iodine should be done

5.7.7. if it is present then removal of thyroid nodule is advisable

5.7.8. If not then it re-transplanted in proper position

5.8. Geographic tongue : glossitis areata exfoliativa, erythema migrans, benign migratory glossitis

5.8.1. unknown etiology in young unhealthy children or older, post menopausal women, people with stress, malnourished children, and hormonal imbalance patients

5.8.2. filiform papillae has no keratin so fungiform papillae is inflamed

5.8.3. clinically: circular or oval patches on anterior two thirds of tongue they gradually enlarge as smooth areas the filiform papillae disappears but fungiform remains

5.8.4. each patch grow as smooth red denuded area with slightly elevated yellowish border and irregular margin

5.8.5. when patch reaches lateral border of tongue it may creep around to undersurface, when 2 meet each other 1 may recede or may the coalesce

5.8.6. each patch has a life history of about one week after which it disappears and reappears in another area

5.9. Hairy Tongue

5.9.1. unknown etiology there is extensive proliferation of filiform papillae due to actual hyperplasia or impaired desquamation

5.9.2. thickening and elongation of filiform papillae

5.9.3. causes discomfort, gag reflex and foul odor

5.9.4. treated by manual desquamation using h2o2, then use tooth brush to remove it

5.9.5. not congenital, due to smoking, stress , excessive antiseptic mouth wash, vitamin deficiency

5.9.6. clinically may cover whole dorsum of tongue or part

5.9.7. may vary in color from yellow to brown or black due to extrinsic factor from foods or drugs or from chromogenic bacteria such as aperigillus niger or yeast

5.10. Fissured Tongue

5.10.1. condition tongue present symmetrical or non symmetrical grooves or furrows in dorsal surface

5.10.2. not developmental

5.10.3. cause: chronic trauma or vitamin deficiency ,tobacco smoking , infection such as syphilis and stress

5.10.4. clinically: transverse or cribiform or folacious but pattern is irregular and depth of groove is devoid of papillae and epithelium is seen to be hyperplastic with chronic inflammatory cell infiltrate

5.10.5. causes burning sensation

6. Developmental Disturbance of jaw

6.1. Agnathia

6.1.1. complete or partial abscence of either jaw

6.1.2. Vertical ramus and condylar process more commonly absent and associated with malformations of pinna of ear

6.1.3. associated with other defects of first and second arch

6.2. Micrognathia

6.2.1. meaning a small jaw in upper or lower jaws

6.2.2. may be true or apperent when retrusion of jaw could be attributed to abnormal or postnormal relationship of jaw to skull

6.2.3. may be congenital or acquired

6.2.4. acquired is due to trauma or infection destroying condylar growth at early age

6.3. Macrognathia

6.3.1. Large jaw

6.3.2. True or apparent

6.3.3. not uncommon and usually hereditary

6.3.4. may be associated with conditions such as paget's disease of bone or hormonal imbalance eg acromegaly

7. Salivary Glands

7.1. Aplasia

7.1.1. complete abence of one or more salivary glands

7.1.2. due to failure of terminal cells of developing gland bud to differentiate to acinar tissue

7.1.3. causes dry mouth

7.2. Atresia

7.2.1. This condition where there is abscence or occlusion of one or more ducts of major salivary gland

7.2.2. results from degeneration or failure of canalization of proximal part of epithelial salivary gland after other part is differentiated into salivary gland tissue

7.2.3. causes xerostomia and cyst or ranula

7.3. Aberrancy

7.3.1. ectopic condition in which normal secretory salivary gland develop at abnormal positon

7.3.2. latent bone cyst present this conditon

7.4. Latent bone Cyst ( Developmental linual mandibular salivary gland inclusion cyst or depression stafne bone cyst or static bone cyst

7.4.1. condition where submandibular or sublingual salivary gland develop in bony cavity or depression on lingual surface of body of mandible maintaing connection with parent gland through stalk passing through small opening on lingual aspect of mandibular cavity

7.4.2. clinically : discovered accidetally and is asymptomatic

7.4.3. radiographically: eleptical or rounded radiolucent area situated in molar angle region above lower border of mandible between it and inferior alveolar canal

8. General Developmental Disturbances

8.1. Peutz-Jeghers Syndrome (Hereditary intestinal Polyposis Syndrome)

8.1.1. Hereditary Malformation,

8.1.2. Autosomal Dominant Trait

8.1.3. Generalized Intestinal Polyposis mainly in small intestine causes GIT obstruction and trouble and may cause malignant transformation

8.1.4. circum-oral, circum-nasal, circum-ocular pigmentation and of mucous membrane and dorsum of hand and feet

8.2. Mongolism Down Syndrome

8.2.1. developmental disturbance

8.2.2. due to trisomy 21

8.2.3. happens more in older maternal age of conception

8.2.4. has ratarded mentality

8.2.5. malformation of heart and joints

8.2.6. flat facial profile

8.2.7. mongloid slant of palpebral fissure

8.2.8. midface bony hypoplasia

8.2.9. frontal and sphenoidal sinus absent maxillary sinus is hypoplastic

8.2.10. macroglossia and prognathism