What is Epidermolysis Bullosa (EB)?
EB is a group of diseases characterized by blister formation after minor trauma to the skin. This family of disorders, most of which are inherited, range in severity from mild to the severely disabling and life-threatening diseases of the skin. This rare genetic disorder affects all ethnic and racial groups. Estimates indicate that as many as 100,000 Americans suffer from some form of EB. Try to imagine a person with painful wounds similar to burns covering most of his or her body. Unlike burns these wounds never go away. For children, riding a bike, skating, or participating in sports is difficult because normal activities of children causes chronic sores. Wounds may cover up to 75 percent of the body. Imagine a diet of only liquids or soft foods because blistering and scarring occur in the mouth and esophagus. Scarring also causes the fingers and toes to fuse, leaving deformities which severely limit function. Imagine a life tied to hospitals for wound treatment, blood transfusions, biopsies and surgeries. The eyes often blister preventing sight for days. Chronic anemia reduces energy and growth is retarded. There is little hope for life beyond 30 years. Children with EB are often referred to as Butterfly Children because their skin is as fragile as a butterfly’s wings. This describes the life of a child born with the severe forms of epidermolysis bullosa.
Dystrophic EB is caused by a mutation in the collagen7 gene and can be dominant or recessive. The collagen gene codes for the collagen7 protein that anchors the deeper layer of skin, called the dermis, to the epidermis, or superficial layer of skin. When an individual has an abnormal collagen protein, the skin is fragile and separates easily, forming blisters. Both dominant and recessive forms of Dystrophic EB cause scarring. An individual with dominant Dystrophic EB generally experiences mild to moderate blistering of the skin, but only a small amount of blistering of the mouth, esophagus, and GI tract. This type rarely causes pseudosyndactyly, a deformity of the hands or feet caused by the fusion of the fingers or toes. The recessive form of Dystrophic EB is the most severe, chronic type of EB. Blistering begins at birth or shortly afterwards. Much of the skin is covered in blisters and there is extensive internal blistering. Children can develop deformities caused by the recurrent scarring of the fingers and toes (pseudosyndactyly) and the hands and arms become fixed in stiff positions (contractures). It is painfully difficult for a child with recessive Dystrophic EB to ingest food due to the internal blistering that occurs in the mouth, esophagus, and gastrointestinal tract.
How is EB treated?
Many patients with mild forms of EB require little or no treatment. In fact, people with the most common form of EB, the Weber-Cockayne Subtype of EB Simplex rarely seek medical help. However, patients with severe forms of EB require hours of daily intense care that is usually provided by their families. The care given to these patients is similar to the care provided for burn victims; blisters are wrapped in dressings and the dressings are changed daily. Currently, treatment for severe forms of EB is focused on promoting wound healing, preventing infection, protecting the skin from trauma, decreasing blister occurrence, minimizing deformities, alleviating pain, attending to nutritional needs, and providing psychological support for the family. With the more severe forms of EB, it is often necessary to have several physicians involved in the care of the patient, including a dermatologist, a primary care doctor, dentist, hand surgeon, gastrointestinal specialist, and pain specialist. Additional help is provided by nutritionists, physical and occupational therapists, social workers, and other health care professionals. This multidisciplinary approach is needed for children with severe EB.