The facts about Epidermolysis Bullosa
Epidermolysis Bullosa (EB) is a group of genetic skin conditions characterized by fragile skin and easy blistering. The skin is so fragile in people with EB that even minor rubbing may cause blistering. At times, the person with EB may not be aware of rubbing or injuring the skin even though blisters develop.
In some forms, the blisters heal with scarring which can result in permanent change to the skin, for example fingers may fuse, reducing movement. In severe EB, blisters are not confined to the outer skin. They may develop inside the body, in such places as the linings of the mouth and esophagus.
There is currently no cure for EB. However, researchers at the University of Minnesota were the first to use a Blood and Marrow Transplant (BMT) to treat this disease. Led by Dr. John Wagner and Dr. Jakub Tolar, doctors at the U of M were the first to demonstrate that Collagen type VII proteins can be given to patients via bone marrow transplant. The early results in patients show an improvement in their skin and the presence of Collagen type VII in their epidermis. Prior to BMT, the only treatment options being used were external — trying to manage skin care with topical ointments, bandages and other precautions.
At this point, the University of Minnesota is the first and only place in the world performing BMT on EB patients, and the number of EB patients and families coming to Minnesota for this groundbreaking treatment continue to grow.