Nevoid basal-cell carcinoma syndrome.

摘要: The nevoid basal-cell carcinoma syndrome is characterized by major manifestations, such as multiple carcinomata, cysts of the jaws, and skeletal--specifically, rib--abnormalities. Findings in 53 patients a review literature document both lesser-known manifestations disorder. odontogenic keratocyst, which usually appears during adolescence, has marked tendency to recur. In addition skin tumors, milia, epidermoid cysts, chalazia, comedones, palmar plantar pits are frequent. originally thought be independent sun exposure, more common sun-exposed areas far less frequent occur at much later age blacks than whites. There some evidence that radiation promotes appearance cancers this Unilateral linear carcinomas with comedones may represent postzygotic somatic mutation. A proclivity other forms neoplasia exists. Patients have had medulloblastoma, meningioma, ovarian fibroma, fibrosarcoma, fibrosarcoma cardiac fetal rhabdomyoma, lymphatic or chylous mesentery. usual modalities treatment, topical immunotherapy 5-fluorouracil been used success. Oral synthetic retinoids, 13-cis-retinoic acid, prevent new lesions from appearing arrest growth older inducing differentiation. observations increased prostaglandin levels associated keratocyst expansion aggression basal cell merit further investigation fundamental cellular mechanism possible basis for treatment (e.g., antiprostaglandins). key pre- early postnatal diagnosis disorder--as well an understanding basic abnormality--lies molecular genetics. Prime attention should given finding site gene through use DNA markers.