The multiple nevoid basal cell carcinoma syndrome revisited.
Over a decade has elapsed since the senior author became interested in the multiple nevoid basal cell carcinoma syndrome. During the intervening years many facets of the syndrome have been examined and the evidence weighed concerning new findings. The original triad of signs, multiple nevoid basal cell carcinomas, jaw cysts and skeletal anomalies, has been greatly expanded to include intracranial calcification, ovarian fibroma, lymphomesenteric cysts, medulloblastoma and a whole host of minor and occasional (but valid) associated anomalies.
D000328:Adult; D001766:Blindness / Q000151:congenital; D001847:Bone Diseases / Q000235:genetics; D001927:Brain Diseases / Q000235:genetics; D002114:Calcinosis / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000235:genetics*; D002648:Child; D003560:Cysts / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005350:Fibroma / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007571:Jaw Diseases / Q000235:genetics; D008527:Medulloblastoma / Q000453:epidemiology / Q000235:genetics; D008639:Mesenteric Cyst / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome