Bazex–Dupré–Christol syndrome

Bazex–Dupré–Christol syndrome 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 article is about the inherited condition Bazex syndrome. For the cutaneous condition Bazex syndrome, see Acrokeratosis paraneoplastica of Bazex.
Bazex–Dupré–Christol syndrome
Other namesBazex syndrome,[1] follicular atrophoderma and basal cell carcinomas[1]
This condition is inherited in an X-linked dominant manner.

Genetics

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 sex 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]

Diagnosis

Genetic testing of x linked dominant pattern associated with various neoplasm nnn (e.g. basal cell carcinoma)

Treatment

See also

References
  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.