Epidermolysis Bullosa (EB) is a genetic skin disorder characterized by blister formation from mechanical trauma. There are 4 main types: EB Simplex, Junctional EB, Dystophic EB, and Kindler Syndrome, with additional sub-types identified within each type of EB. The disorder occurs in every racial and ethnic group throughout the world and affects both sexes equally. There is a spectrum of severity, and within each type, one may be either mildly or severely affected. EB ranges from being a minor inconvenience requiring modification of some daily activities to being completely disabling and, in some cases, fatal.
Friction causes blister formation. Simply swallowing food or wearing clothing with seams can result in agonizing wounds in the more severe forms of EB. In the most severe forms any epithelial tissue may form a blister secondary to minor trauma. Some examples are the oral mucosa, the external surface of the eye, the respiratory tract as well as the gastrointestinal and genitourinary tracts. In some forms of the disease disfiguring scars and disabling musculoskeletal deformities can occur.
Since EB is a genetic disease there is currently no cure for EB. The current standard of care is supportive which includes daily wound care, specialized atraumatic dressings and pain management.
It has been estimated that 1 out of every 20,000 live births in the United States are affected with some type of EB. The disorder occurs in every racial and ethnic group throughout the world and affects both sexes equally.