Bazex syndrome

Bazex syndrome, also known as Bazex-Dupré-Christol syndrome (BDCS), is a rare hereditary condition characterized by a triad of 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), and multiple basal cell carcinomas (BCCs) that typically develop from adolescence or early adulthood. The condition primarily affects the skin and its appendages, including hair follicles and sweat glands. Milia (small white cysts) on the face may also be present, and some patients develop additional features such as hypohidrosis (reduced sweating). It is important to distinguish this condition from Bazex acrokeratosis paraneoplastica, which is a separate acquired paraneoplastic syndrome. The basal cell carcinomas in Bazex-Dupré-Christol syndrome tend to appear at a younger age than sporadic BCCs, often arising during the second or third decade of life, predominantly on sun-exposed areas such as the face. The follicular atrophoderma is typically noted in childhood and can be an early diagnostic clue. The genetic basis has been mapped to the X chromosome (Xq24-q27), though the precise causative gene has been debated, with some studies implicating the ACTRT1 gene. Because of the predisposition to basal cell carcinomas, lifelong dermatologic surveillance is essential. Treatment is primarily focused on early detection and surgical removal of basal cell carcinomas, sun protection measures, and regular skin examinations. There is no specific curative therapy for the underlying genetic condition.

Common questions about Bazex syndrome