| Bazex-Dupre-Christol syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 301845 |
| DiseasesDB | 34543 |
Bazex-Dupre-Christol syndrome (also known as "Bazex syndrome,"[1] and "Follicular atrophoderma and basal cell carcinomas"[1]) is a very rare condition inherited in an X-linked dominant fashion. Physical findings typically include follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis and hypohidrosis.[2]
This condition should not be confused with the unrelated condition Acrokeratosis paraneoplastica of Bazex, which may also be referred to Bazex syndrome.
BCDS is inherited in an X-linked dominant manner. This means the defective gene responsible for the disorder is located on the X chromosome, and only one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder. Males are normally hemizygous for the X chromosome, having only one copy. As a result, X-linked dominant disorders usually show higher expressivity in males than females.
As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the gender of the parent carrying a specific gene and can often seem complex. This is because, typically, females have two copies of the X-chromosome, while males have only one copy. The difference between dominant and recessive inheritance patterns also plays a role in determining the chances of a child inheriting an X-linked disorder from their parentage.
A locus of Xq24-q27 has been described.[3] However, no gene has been identified.