[A familial case of Gorlin syndrome].
An 11-year-old girl was admitted to Chiba University Hospital because of the infection of jaw cysts. She had many pits on her palms and soles, basal cell nevus, and typical facial features to Gorlin syndrome (nevoid basal cell carcinoma syndrome). Her 14-year-old sister and 44-year-old father also had similar clinical symptoms, thus they were diagnosed as having a familial Gorlin syndrome. Recently, the father had a complication of maxillary cancer. Colony formation tests after X-ray and ultraviolet irradiation in skin fibroblasts derived from these sisters revealed no remarkable hypersensitivity to these agents. It is important to make an early diagnosis and a proper management in Gorlin syndrome, which has cancer predisposition.
Fujii
K
K
Department of Pediatrics, Faculty of Medicine, University of Chiba, Japan.
Sugita
K
K
Watanabe
T
T
Takanashi
J
J
Niimi
H
H
D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D012878:Skin Neoplasms / Q000235:genetics*