Epidermolytic Hyperkeratosis 2A, Autosomal Dominant (EHK2A)
OMIM number: 620150
Comments closing date: 19/08/2026
Symptoms vary from person to person but commonly include: Blistering and redness of the skin at birth or shortly afterward. Fragile skin that is easily injured. Thickened, rough, or scaly skin (hyperkeratosis), which usually develops during infancy or childhood. Thickening is often most noticeable over joints, the hands and feet, and areas exposed to friction. Some people experience itching, skin infections, or an unpleasant skin odor due to bacterial overgrowth. There is currently no cure, but treatments can help manage symptoms and improve quality of life. These may include: Daily use of moisturizers (emollients) to keep the skin hydrated. Keratolytic creams containing ingredients such as urea, lactic acid, or salicylic acid to reduce thickened skin. Careful treatment of blisters and prompt management of skin infections. In more severe cases, oral retinoid medications may be prescribed under specialist supervision to reduce skin thickening. Skin care routines are often tailored to each individual's needs. The severity can range from mild to severe, even among members of the same family. The condition does not usually affect life expectancy, although it can have a significant impact on comfort, mobility, and quality of life.
