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Bazex–Dupré–Christol syndrome

Field	Value
name	Bazex–Dupré–Christol syndrome
image	X-linked dominant.svg
caption	This condition is inherited in an X-linked dominant manner.
synonyms	Bazex syndrome, follicular atrophoderma and basal cell carcinomas

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.

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.

Diagnosis

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

References

Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
Bolognia, J (2008) "Dermatology," Mosby, {{ISBN. 9781416029991.
(July 1995). "The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq". J. Invest. Dermatol..

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genodermatoses x-linked-dominant-disorders genetic-disorders-with-omim-but-no-gene syndromes-with-tumors

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