Bazex–Dupré–Christol syndrome explained

Bazex–Dupré–Christol syndrome
Synonyms:Bazex syndrome, follicular atrophoderma and basal cell carcinomas[1]

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]

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-linkedinheritance 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)

See also

Notes and References

  1. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
  2. Bolognia, J (2008) "Dermatology," Mosby, .
  3. Vabres P, Lacombe D, Rabinowitz LG . The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq . J. Invest. Dermatol. . 105 . 1 . 87–91 . July 1995. 7615983 . 10.1111/1523-1747.ep12313359. etal. free .