Nevoid basal cell carcinoma syndrome.
Nevoid basal cell carcinoma syndrome has as its hallmarks such diverse manifestations as numerous cutaneous basal cell cancers and epidermal cysts, palmar and plantar pits, keratocysts of the jaw, calcified dural folds, various skeletal anomalies, cleft lip and/or palate, and various other neoplasms or hamartomas. Inheritance is autosomal dominant. The etiology of all of the above findings appears to be a mutation in a tumor suppressor gene that also plays a role in normal embryonic development.
Gorlin
R J
RJ
Department of Oral Pathology and Genetics, School of Dentistry, University of Minnesota, Minneapolis, USA.
D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D004388:Dura Mater / Q000002:abnormalities; D004814:Epidermal Cyst / Q000235:genetics / Q000473:pathology; D005260:Female; D005533:Foot Dermatoses / Q000235:genetics / Q000473:pathology; D016147:Genes, Tumor Suppressor / Q000235:genetics; D006222:Hamartoma / Q000235:genetics / Q000473:pathology; D006229:Hand Dermatoses / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009807:Odontogenic Cysts / Q000235:genetics / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology