Bazex–Dupré–Christol syndrome

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2023-10-27 15:22

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WikiTeq Adm and Dermwiki

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Management

Other considerations

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 names	Bazex syndrome, follicular atrophoderma and basal cell carcinomas
This condition is inherited in an X-linked dominant manner.

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)

See also

• Crouzon syndrome
• List of cutaneous conditions
• List of cutaneous neoplasms associated with systemic syndromes