Bazex–Dupré–Christol syndrome

Bazex–Dupré–Christol syndrome
Classification and external resources
OMIM 301845
DiseasesDB 34543

Bazex–Dupré–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.

Genetics

X-linked dominant inheritance works differently depending upon whether the mother (left image) or father (right image) is the carrier of a gene that causes a disease or disorder

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.

See also

References

  1. 1 2 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  2. ↑ Bolognia,J (2008) "Dermatology," Mosby, ISBN 9781416029991.
  3. ↑ Vabres P, Lacombe D, Rabinowitz LG, et al. (July 1995). "The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq". J. Invest. Dermatol. 105 (1): 87–91. doi:10.1111/1523-1747.ep12313359. PMID 7615983.
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