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| Fig. 44.2 Nevoid basal cell carcinoma syndrome. A, More than 20 basal carcinomas varying from minute to large are present on the back of this patient with several hundred basal cell carcinomas. B, Numerous keratotic palmar pits in a patient with nevoid basal cell carcinoma. (Panel A courtesy of the Fitzsimons Army Medical Center teaching files; panel B courtesy of the John L. Aeling, M.D. collection.) |
Nevoid basal cell carcinoma syndrome, also called
Gorlin’s syndrome, is an autosomal dominant inherited disorder characterized by a number of different germline mutations of
PTCH, the same gene that is found to be mutated in most sporadic basal cell carcinomas. It is characterized by the early onset and continued development of numerous basal cell carcinomas (Fig. 44-2), in addition to other tumors and developmental abnormalities including keratocysts of the jaw, palmar and plantar pits, skeletal abnormalities, medulloblastoma, and calcification of the falx cerebri.
High A, Zedan W: Basal cell nevus syndrome,
Curr Opin Oncol 17:160–166, 2005.
