LECTURE 5: INHERITED ORALDISEASE
Papillion-LeFevre Syndrome
Autosomal Recessive Cathepsin Gene Severe hyperkeratosis, dramatic periodontitis, floating teeth
Cherubism
Autosomal Dominant NO gene Expansion of posterior mandible, eyes upturned, radiograph shows multiocular radiolucency with massive expansion on Mn, cherub-like face
Cleidocranial Dysplasia
Autosomal Dominant and sporadic pattern (spontaneous mutation) Cbfa1/Runx2 gene Bone defects in clavicle or skull, clavicle may be absent, short stature wt large head, skull sutures remain open, high- arched palate, many unerrupted teeth
Crouzon Syndrome (Craniofacial Dysostosis)
Autosomal Dominant FGFR2 gene Ocular proptosis (eyes sticking out), headaches, normal intelligence underdeveloped maxilla, crowding of Mx teeth, bifid uvula, "beaten metal" skull
Aperts Syndrome (Acrocephalosyndactyly)
Autosomal Dominant FGFR2 gene Similar to Crouzon but more severe, Syndactyly of the 2nd, 3rd, and 4th digits. mental retardation, pseudo cleft palate due to swellings of the lateral hard palate and crowding of Mx teeth, bifid uvula
Treacher-Collins Syndrome (mandibulofacial Dysostosis)
Autosomal Dominant, 60% spontaneous mutation TCOF1 gene Characterisitic face: narrow face with depressed cheeks and downward slanting palpebral fissures, coloboma (notch) at the outer portion of lower eyelid, ear anomalies, underdeveloped mandible, lateral facial clefting and cleft palate
Multiple Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Autosomal Dominant Patched mutation, chr. 9 Multiple basal cell carcinomas even in areas not exposed to the sun. odontogenic keratocysts, epidermal cysts, palmar/plantar pits, calcified falx cerebri, bifid ribs, hypertelorism, big head, develop tumors in spinal cord
Osteopetrosis
Infant = AR Adult = AD No gene -- just nonfunctioning Osteoclasts Infantile form: have osteosclerosis, hematologic, and neurologic manifestations, most die before 20yrs old due to anemia (due to the replacement of the bone marrow compartment with bone) and infection, face: broad face, hypertelorism, snub face and frontal bossing, tooth eruption delayed, narrowing of cranial nerve foramen resulting in blindness, deafness. and facial paralysis, despite dense ones, pathologic fractures (very brittle). osteomyelitis of jaws (compaction of tooth extraction), radiographs: distinction between cortical and cancellous bone is lost Adult form: more common, happens later in life, relatively mild, NO anemia, NO blindness, and NO hearing loss, fractures are uncommon but recover after an extraction are complicated
Neurofibromatosis (Von Reckinghausen disease of the skin)
Autosomal Dominant NF1 most common gene, chr.17 Malignant transformations, benign neural tumors of the skin and oral cavity, 6 or more cafC au lait macules, axillary freckles, Lisch nodules (brown pigement spots of the iris), oral lesions, enlarged Mn foramen and Mn canal and fungiform papillae. (several critieria....refer in notes)
Multiple Endocrine Neoplasia, Type IIB
Autosomal Dominant, 50% new mutation Mutation of ret proto-oncogene, chr.10 MEN IIB: MEN IIA and mucosal neuromas (tumors in the mouth). Marfanoid phenotype (long face and thick lips), narrow face, everted upper eyelid, oral lesions may be first sign!, common bilateral commissural neuromas, Pheochromactoma (secretion of catecholamines due to medulla tumor), sweating, diarrhea, headaches, flushing, heart palpations, and hypertension, medullary carcinoma of the thryroid: calcitonin production. highly metastatic
Peutz-Jeghers Syndrome
Autosomal Dominant No gene Multiple perioral and oral ephelides or melanotic macules, intestinal polyposis, looks like freckles, on the palms and sole