The genetic cause of a rare skin cancer syndrome, Bazex–Dupré–Christol syndrome

Bazex–Dupr e–Christol syndrome (BDCS) is a rare genetic skin condition characterized by poor hair growth, prominent hair follicle openings, especially on the backs of the hands, and multiple skin tumours, particularly basal cell carcinomas (BCCs). BDCS is an X-linked dominant condition, which means an affected father would pass on the condition to his daughters but not his sons, whereas an affected mother has a 50% chance of passing on the condition to both her sons and daughters. Previous studies have identified an area on the long arm of the X chromosome called Xq25-q27 1. It contains the gene ACTRT1, which is suspected to cause BDCS.