It is estimated that 2 to 4 out of every 100,000 people have some form of EB. It occurs in all racial and ethnic groups and affects males and females equally. Most people with EB have inherited the condition from one or both parents. Epidermolysis Bullosa can result from a genetic mutation in one of 18 genes. These mutations, or errors in the genetic code, do not allow the body to either produce an essential protein or produce a working form of the protein thus resulting in extremely fragile skin.
The skin has an outer layer (the epidermis) and an underlying layer (the dermis). The place where the two layers meet is called the basement membrane zone. The main forms of EB are Simplex (~75%), Dystrophic (~20%) and Junctional (~5%). EB Simplex occurs in the outer layer of skin; Junctional and Dystrophic occur in the basement membrane zone. These are major types of EB that also have many subtypes.
People living with EB have painful wounds and blisters that can lead to infection and scarring. There are many genetic and symptomatic variations of EB, but all forms share the common symptom of fragile skin that blisters and tears from even the slightest friction or trauma. There are currently no approved treatments for EB. The current standard of care for the skin manifestation of EB consists of pain management as well as bandaging and cleaning of open wounds to prevent infection. 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 of epithelial tissue are the mucous membrane of the mouth, the external surface of the eye, the respiratory tract as well as the gastrointestinal and genitourinary tracts.