Imagine how it would be when even the slightest touch makes your skin feel like it has third-degree burns. It’s reality to those who suffer the rare condition epidermolysis bullosa (EB), a genetic disease in which any minor skin trauma has painful consequences.
The skin has two layers; the outer layer is the epidermis and the inner layer is the dermis. Normally, protein anchors between these two layers hold them together. People with EB are born without these protein anchors, therefore any action that moves the layers from one another (like rubbing or pressure) will create blisters and sores, that may be as painful as third-degree burns. In addition, this condition increases the risk of skin cancer.
The disease is present all over the world and affects both sexes. Its severity ranges from mildly to lethal, depending on the type of EB.
Patients are highly recommended to prevent complications and many choose to protect their skin, especially their hands and feet, with bandages. Despite preventive actions, repeated blistering and scarring can still occur and may cause such severe deformities that it limits normal motion. In this cases, surgery may be needed.
Luckily, scientists are under way to find better ways to treat and relieve the symptoms of EB. Recently, a clinical research team of the University of Minnesota succesfully carried out a bone marrow transplant to a 2-year-old child with EB. The clinical trial will ultimately include transplants to 30 subjects. However, the transplantation is riskfull as it may cause serious infections. At least four patients are known to have died during the preparation or institution of bone marrow transplantation.
In 2004, Channel 4 broadcasted a documentary about the life and death of an English man with EB, Jonny Kennedy. You can watch the first episode of “The Boy Whose Skin Fell Off” in the video below.