Nevoid basal cell carcinoma syndrome.
A case report of a young girl with nevoid basal cell carcinoma syndrome is presented. The patient showed cutaneous and skeletal findings characteristic of the syndrome. Multiple basal cell carcinomas, rib abnormalities, along with clinical evidence of frontal bossing and ocular hypertelorism were the primary features of the syndrome in this patient. It is suggested that other characteristics of the syndrome, such as jaw cysts, palmar and plantar pitting and calcification of the falx cerebri will develop as the patient grows older. Careful observation, particularly for medulloblastoma and malignant degeneration and invasiveness of basal cell carcinomas, will be an integral part of this young patient's care.
D002280:Basal Cell Carcinoma / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005528:Foot / Q000473:pathology; D005534:Foot Diseases / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000000981:diagnostic imaging; D009506:Nevus / Q000151:congenital* / Q000175:diagnosis; D011859:Radiography; D012272:Ribs / Q000002:abnormalities; D012878:Skin Neoplasms / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome