Bazex–Dupré–Christol syndrome

Bazex–Dupré–Christol syndrome is a rare, inherited condition characterized by the development of skin lesions, hair abnormalities, and an increased risk of certain types of cancer. The syndrome is named after the three French physicians who first described it: André Bazex, Jean Dupré, and Gilbert Christol.

Symptoms and Signs

The most common symptoms of Bazex–Dupré–Christol syndrome include:

• Skin lesions: These can vary in appearance, but often include acne-like bumps, keratosis (thickened patches of skin), and basal cell carcinoma (a type of skin cancer).
• Hair abnormalities: Individuals with this syndrome often have sparse or absent hair in certain areas, such as the armpits and pubic region. The hair on the scalp may also be thin and brittle.
• Increased risk of cancer: In addition to basal cell carcinoma, individuals with Bazex–Dupré–Christol syndrome may also have an increased risk of developing other types of cancer, such as squamous cell carcinoma and melanoma.

Causes

Bazex–Dupré–Christol syndrome is caused by mutations in the BCC gene. This gene provides instructions for making a protein that helps control the growth and division of cells. Mutations in the BCC gene can lead to uncontrolled cell growth and the development of skin lesions and cancer.

Diagnosis

Diagnosis of Bazex–Dupré–Christol syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis by identifying a mutation in the BCC gene.

Treatment

Treatment for Bazex–Dupré–Christol syndrome is focused on managing the symptoms and preventing the development of cancer. This may include regular skin examinations, removal of skin lesions, and use of sun protection to reduce the risk of skin cancer.

See also

• Genetic disorders
• Skin diseases
• Cancer

Bazex–Dupré–Christol syndrome Resources
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