Keratosis follicularis

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

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:

Causes[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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

Prognosis[edit | edit source]

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[edit | edit source]

Keratosis follicularis Resources

Contributors: Prab R. Tumpati, MD