Definition-Epidermolysis Bullosa is a group of rare skin diseases marked by the development of blisters following minimal distrubance to the skin or mucus membranes. There is no cure for the disorder.
Treatment focuses on preventing and treating wounds and infections.
The types can range in severity from annoying blisters during sports to a disfiguring and life threatening disease. Exactly how many people have EB is unknown, but estimates place the the number at roughly 1 in 100,000 live births. Prenatal testing for families at risk of giving birth to an EB affected child has recently become available. EB simplex results from mutations in genes responsible for Keratin 5 and 14, which are proteins that give the cells of the epidermis its structure. The genetic mutations for Junctional EB are found in the genes responisible for producing the protein Laminin-5.