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Abstract:

Nevoid basal cell carcinoma syndrome is a rare genetic disorder in which a mutation in the PTCH1 gene on chromosome 9, involved in the hedgehog signaling pathway, leads to a series of both developmental and neoplastic symptoms. Clinical diagnosis can be made based on a number of major and minor criteria with the development of multiple basal cell carcinomas as the most prominent dermatological feature. Other main clinical diagnostic criteria include odontogenic keratocysts, calcification of the falx cerebri, palmar and plantar pits, skeletal deformities and first degree relatives with the syndrome. This case presented advanced dermatological manifestations and a broad clinical spectrum of symptoms associated with the syndrome.