Epidermolysis Bullosa (EB): A Disease with No Treatment

EB is short for Epidermolysis Bullosa. Bullosa means blister and lysis means breakdown. EB is a skin condition that causes blisters and sores on the skin. Patients are born without a gene responsible for making type VII collagen that anchors the epidermis with the dermis. In people with EB, these two layers of skin rub together causing blisters with only a minor touch. Imagine getting a blister when you are walking with an ill-fitting shoe. Now speed up that process until you get a blister after taking one step and you get some idea of how EB works.

EB is a hereditary disease that affects 1 in every 20,000 births. Either a dominant gene or a recessive gene can carry it. It is rare enough that only about 10,000 children and adults in the U.S. have the disease. It is currently incurable and no effective treatment exists.

EB can range from fairly mild with only the hands and feet involved to very serious with even the oral cavity, pharynx, and esophagus. Some babies or young children literally starve to death because of EB. But even if only the hands or feet are involved the disease can be disabling, as over time scar tissue forms and causes the hands and feet to become stumps. Fingers and toes are also lost to infection. For anyone with EB normal day to day life can cause constant pain and scarring which can lead to disfigurement, disability and early death. Because the skin is so fragile, skin cancer is almost inevitable, starting in a patient's twenties.

Because there is no effective treatment people with EB can only try to prevent infection and further scarring. Long daily baths are taken. Patients use foam padding or sheepskin on furniture such as beds, chairs, and infant car seats. A cool environment should be maintained. Blisters need to be pierced and drained and dressings applied to injured areas. The dressings must be changed daily. Because they are always attempting to heal, people with EB have heightened nutritional needs. They consume high calorie drinks daily and have periodic intravenous infusions of iron.

Most experts believe that effective treatment for EB will be gene therapy. There is some hope because researchers at USC/Norris Medical Center have cloned the gene responsible for making type VII collagen, the material responsible for anchoring the layers of skin. They hope to take patches of the patient's skin and put the cloned gene into the patches. These would then be grown and then transplanted onto the patient.