Keratosis follicularis: Difference between revisions
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Latest revision as of 12:56, 18 March 2025
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]
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]
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]
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]
Treatment for keratosis follicularis is aimed at managing symptoms and may include:
Prognosis[edit]
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.
