Bazex-Dupre-Christol syndrome: A case report

Bazex-Dupre-Christol (BDC) syndrome is clinically characterized by multiple basal cell carcinomas of the face that mainly occur during the second and third decade of life, follicular atrophoderma predominantly of the dorsum sides of the hands and feet and generalized hypotrichosis; sometimes with pili torti and trichorrhexis nodosa. Features commonly associated with BDC are milia, hypohidrosis and calcifying epithelial tumours. In this study, four members of one family with BDC syndrome, a mother and her three daughters were reported. The major clinical features of BDC were very typical in the mother and one of the daughters whereas only follicular atrophoderma, milia and hypotrichosis were present in the other two daughters. Bazex Dupre Christol Syndrome is a hereditary multiple basal cell carcinoma (BCC) syndrome whose pattern of inheritance is thought to be X-linked dominant, which implies that all daughters of affected mothers should be having this disease. In this case report, among the four daughters, only three were suffering from BDCS while one is totally asymptomatic. Based on the literature review, this appears to be the first report of a family with BDC from Pakistan.