Keratosis follicularis

Keratosis follicularis, also known as Darier's disease, is a rare, genetic skin disorder. It is characterized by small, hard bumps on the skin that may be covered with a crust or scaly patch. The bumps are often dark in color and may appear anywhere on the body, but are most commonly found on the chest, back, and scalp.

Symptoms

The primary symptom of keratosis follicularis is the presence of small, hard bumps on the skin. These bumps may be covered with a crust or scaly patch and are often dark in color. Other symptoms may include:

• Itching
• Redness
• Inflammation
• Pain

Causes

Keratosis follicularis is caused by a mutation in the ATP2A2 gene. This gene provides instructions for making a protein that is found in many types of cells, including skin cells. The mutation disrupts the normal function of the protein, leading to the symptoms of keratosis follicularis.

Diagnosis

Diagnosis of keratosis follicularis is typically made based on the appearance of the skin. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be used to identify the ATP2A2 gene mutation.

Treatment

Treatment for keratosis follicularis is aimed at managing symptoms and may include:

• Topical corticosteroids
• Retinoids
• Laser therapy
• Dermabrasion

Prognosis

The prognosis for individuals with keratosis follicularis varies. Some people may experience mild symptoms, while others may have severe skin changes that can affect their quality of life.

See also

• List of cutaneous conditions
• Genodermatoses