수막종과 난소의 경화성 간질종양을 동반한 모반양 기저세포암 증후군 1예

Abstract

Nevoid basal cell carcinoma syndrome is inherited as an autosomal dominant trait with variable expressivity. This is characterized by multiple basal cell carcinomas, skeletal abnormalities, ectopic calcification, palmoplantar pits, central nervous system abnormalities, and multiple odontogenic keratocysts of the jaw. We report a case of nevoid basal cell carcinoma syndrome occurring in 14 year old girl, she had multiple basal cell carcinomas, spina bifida in the cervical vertebrae, forked ribs, hypertelorism, ectopic calcification of falx cerebri, palmoplantar pits, medulloblastoma, meningioma and sclerosing stromal tumor of the ovary. Her father had the same clinical features.