Bazex-Dupré-Christol syndrome

Bazex-Dupré-Christol syndrome (BA-zex-doo-PRAY-kris-TOL SIN-drome) A very rare, inherited disorder that affects the hair follicles on the scalp and other areas of the body where hair normally grows. There is little or no hair growth in the affected areas, and the hair may be lighter in color, course in texture, and appear flat and twisted when looked at under a microscope. Other signs and symptoms include little or no sweating; small white bumps or cysts on the face, tops of the hands and feet, the back of the elbow, and the front of the knee; and other skin problems. The signs and symptoms usually appear at birth or during infancy. People with Bazex-Dupré-Christol syndrome have an increased risk of developing basal cell skin cancer at an early age, especially on the face. Bazex-Dupré-Christol syndrome may be caused by a mutation (change) in the UBE2A gene on the X chromosome. Also called BDCS.

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