大疱性表皮松解症

Epidermolysis bullosa is a group of rare diseases that cause the skin to be fragile and to blister easily. Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters and sores may also develop inside the body, such as in the mouth, esophagus, stomach, intestines, upper airway, bladder, and genitals. Most people who have epidermolysis bullosa inherit a mutated (changed) gene from their parents. The gene mutation changes how the body makes proteins that help the skin bind together and remain strong. If you have epidermolysis bullosa, one of these proteins does not form correctly. The layers of the skin do not bind normally, making it easy for the skin to tear and blister. The primary symptom of epidermolysis bullosa is fragile skin that leads to blistering and tearing. The symptoms of the disease usually begin at birth or during infancy and range from mild to severe. There is no cure for the disease; however, scientists continue to research possible treatments and cures for epidermolysis bullosa. Your doctor treats the symptoms, which may include managing pain, treating wounds caused by the blisters and tears, and helping you cope with the disease.