What is epidermolysis bullosa (EB)?
Epidermolysis bullosa (EB) is a family of inherited skin diseases characterized by fragile skin that is prone to breakdown and blistering. Blisters can be found on the skin, but can also occur on the mouth, esophagus and eye.
EB is classified into four main types of diseases, ranging severity from very mild to very severe and debilitating. In the mildest cases, blistering is limited to the hands and feet after strenuous activity. In severe cases, a patient can experience scarring and disfiguring effects caused by their EB and endure constant, painful sores covering most of their body. Severe forms of EB can also cause other problems, such as poor growth, anemia, low bone mass, chronic constipation and trouble swallowing.
Unfortunately, there is no cure for EB. Treatment mainly centers on wound care and early diagnosis and treatment of complications.
What causes EB?
EB is a genetic disease, involving least 14 different genes. Genetic changes lead to absent or abnormal structural proteins that are needed to anchor the top layer of skin (epidermis) and middle layer of skin (dermis) together. Because of these abnormalities, the skin is not able to withstand friction, resulting in the easy formation of blisters and sores.
Who gets EB?
EB can be found in people of both sexes, and of all ages, races and ethnic groups. EB is found in approximately 1 out of every 50,000 live births, making it a fairly rare disease.
EB is inherited, meaning one or both parents either have EB or are carriers for EB. A geneticist can assess the future likelihood of having a child with EB if it is known that one or both parents carry or have EB.