Darier's

Darier's disease (also known as Darier-White disease, Dyskeratosis follicularis, or Keratosis follicularis) is a rare, genetic skin disorder that affects both men and women. It is characterized by small, hard bumps on the skin, often in the chest, back, and scalp areas. The disease is named after the French dermatologist Ferdinand-Jean Darier who first described the condition in 1889.

Symptoms

The primary symptom of Darier's disease is the presence of small, hard bumps on the skin. These bumps are often yellowish in color and may have a greasy appearance. They are most commonly found on the chest, back, and scalp, but can also appear on the face, neck, and other parts of the body. Other symptoms may include a foul odor from the affected areas, itching, and increased sensitivity to heat.

Causes

Darier's disease is caused by a mutation in the ATP2A2 gene. This gene provides instructions for making a protein that is found in the membrane of the endoplasmic reticulum (ER), a structure involved in protein processing and transport. The mutation disrupts the function of this protein, leading to the characteristic symptoms of Darier's disease.

Diagnosis

Diagnosis of Darier's disease is typically based on the characteristic skin findings. A skin biopsy may be performed to confirm the diagnosis. Genetic testing can also be used to identify the ATP2A2 mutation.

Treatment

There is currently no cure for Darier's disease, but treatments are available to manage the symptoms. These may include topical creams and ointments, oral medications, and in some cases, surgery. Regular skin care is also important for managing the condition.

See also

• List of cutaneous conditions
• Genodermatoses

References

Darier's Resources
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