What are the causes and symptoms of epidermolysis bullosa?
EB can be inherited as the result of a dominant genetic abnormality (only one parent carries the abnormal gene) or a recessive genetic abnormality (both parents carry the abnormal gene). EB simplex results from mutations in genes responsible for keratin 5 and 14, which are proteins that give cells of the epidermis its structure. EB simplex is transmitted in an autosomal dominant fashion. Dystrophic EB is caused by mutations in genes for type VII collagen, the protein contained in the fibers anchoring the epidermis to the deeper layers of the skin. The genetic mutations for junctional EB are found in the genes responsible for producing the protein Laminin-5. Dystrophic EB is an autosomal disorder and will only result if both parents transmit an abnormal gene during conception. EB simplex, the most common form of EB, is the least serious form of the disease. In most affected individuals, the blisters are mild and do not scar after they heal. Some forms of EB simplex affect just the hands
