Bazex-Dupré-Christol syndrome

Bazex-Dupré-Christol syndrome (BDCS), also known as follicular atrophoderma and basal cell carcinomas, is a rare hereditary skin disorder characterized by a triad of clinical features: follicular atrophoderma (small ice-pick-like depressions in the skin, particularly on the dorsa of the hands and feet), congenital hypotrichosis (sparse hair from birth, especially affecting the scalp), and a strong predisposition to developing multiple basal cell carcinomas (a type of skin cancer), typically appearing from adolescence or early adulthood. The syndrome primarily affects the skin and its appendages (hair and sweat glands). Additional features may include milia (small white cysts on the face), hypohidrosis (reduced sweating), and occasionally other skin findings. BDCS follows an X-linked dominant inheritance pattern and is caused by mutations mapped to chromosome Xq24-q27. The condition predominantly affects males, though carrier females may show milder features. The gene responsible has been linked to the ACTRT1 gene in some families, though genetic heterogeneity may exist. Because of the significantly increased risk of basal cell carcinomas, which can develop as early as the teenage years, lifelong dermatological surveillance is essential. Early detection and treatment of basal cell carcinomas through surgical excision, Mohs micrographic surgery, or other appropriate methods is the cornerstone of management. Sun protection measures are strongly recommended to reduce the risk of skin cancer development. There is no cure for the underlying genetic condition, and management focuses on regular skin monitoring, prompt treatment of any malignancies, and supportive care for associated features such as sparse hair. Genetic counseling is recommended for affected families.

Common questions about Bazex-Dupré-Christol syndrome