Keratosis follicularis, also known as Darier's disease or Darier-White disease, is a rare genetic skin disorder characterized by the formation of small, rough, and greasy patches or bumps on the skin. These bumps typically appear on areas such as the scalp, forehead, chest, back, and the creases of the body, such as the armpits and groin.
The condition is caused by mutations in a gene known as ATP2A2, which is responsible for producing a protein involved in calcium regulation within cells. The defective gene leads to an accumulation of calcium in the skin cells, resulting in the formation of the characteristic skin abnormalities.
Individuals with keratosis follicularis may also experience other symptoms such as nail abnormalities, including longitudinal ridges, splitting, or thickening, as well as the development of small skin-colored or reddish-brown growths called acrochordons. In some cases, the condition can affect mucous membranes, causing lesions to develop in the mouth, throat, or esophagus.
Although keratosis follicularis is a lifelong condition, symptoms can fluctuate in severity over time. Environmental factors, such as heat, humidity, or exposure to sunlight, can exacerbate the condition. Additionally, certain triggers, such as stress, infections, or hormonal changes, can aggravate the symptoms.
Treatment options for keratosis follicularis mainly focus on managing symptoms and preventing complications. This may involve the use of topical medications to help alleviate skin abnormalities and reduce inflammation. Additionally, regular dermatological screenings are recommended to monitor the condition and identify any potential complications or associated conditions. Genetic counseling may be offered to individuals with keratosis follicularis and their families to discuss the hereditary nature of the disorder
