Bazex-Dupre-Christol syndrome - a memorable family

ABSTRACT

Bazex-Dupre-Christol syndrome [BDCS] is clinically characterized by multiple basal cell carcinomas of the face occurring mainly during the second and third decade of life, follicular atrophoderma predominantly of the dorsum of hands and feet and generalized hypotrichosis, sometimes with pili torti and trichorrhexis nodosa. Common associated features are milia, hypohidrosis and calcifying epithelial tumours. We herein report four members of one family with BDC syndrome, a mother and her three daughters. In the mother and one daughter, the clinical picture was very typical with all major features, whereas in the others only follicular atrophoderma, milia and hypotrichosis were present. BDCS is a hereditary multiple BCC syndrome whose pattern of inheritance is thought to be X-linked dominant, which implies that all daughters of the affected mothers should have this disease. In this case three out of four daughters are suffering from BDCS but one is totally asymptomatic. To our knowledge, this is the first report of a family with BDC from Pakistan