Two new studies funded in part by NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) describe efforts to develop stem cell-based approaches for treating Epidermolysis Bullosa (EB), a rare, genetic skin disease. The findings, which were published jointly in the journal, Science Translational Medicine, may lead to individualized therapies for EB, and possibly other genetic diseases. People with EB have skin that is so fragile that the slightest friction causes blisters. The severity of the disease ranges from limited tearing of skin on the hands and feet to widespread blistering and scarring, including mucosal surfaces like the
What is epidermolysis bullosa? Epidermolysis bullosa is a group of diseases that cause painful blisters to form on the skin. These blisters can cause serious problems if they become infected. Some people with the illness have a mild form with few blisters. Others have many blisters on the skin. Some people develop blisters inside the body—in places such as the mouth, the stomach, the tube between the throat and stomach, and the bladder. There are different forms of epidermolysis bullosa, depending upon where the blistering occurs within the different skin layers. Skin blisters are the major symptom of epidermolysis bullosa.