Darier's disease

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Darier's Disease

Darier's disease (pronounced: dah-ree-ayz dih-zeez), also known as Darier-White disease or keratosis follicularis, is a rare, genetic skin disorder first described by French dermatologist Ferdinand-Jean Darier in the late 19th century.

Etymology

The disease is named after Ferdinand-Jean Darier, a French dermatologist who first described the condition in 1889. The term "keratosis follicularis" refers to the characteristic follicular keratotic papules seen in this condition.

Definition

Darier's disease is characterized by the presence of small, hard bumps (keratotic papules) on the skin, particularly in the seborrheic areas (areas that produce an oily substance called sebum). These bumps are often yellowish in color, and may have a greasy appearance.

Symptoms

The symptoms of Darier's disease typically appear in adolescence and may include:

Causes

Darier's disease is caused by a mutation in the ATP2A2 gene, which provides instructions for producing a protein that regulates calcium levels in cells. This mutation leads to abnormal keratinization, the process by which skin cells harden and move to the skin's surface.

Treatment

While there is no cure for Darier's disease, treatments aim to manage symptoms and may include:

Related Terms

External links

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