Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a group of genetic (inherited) disorders that causes your skin to be fragile and blister and tear easily. Blisters and sores form when clothing rubs against your skin, or you bump your skin. Mild cases of the disease usually cause painful blisters on the hands, elbows, knees and feet. However, tears and blisters can appear anywhere on the body. EB symptoms can range from very mild to very severe.

In some cases, blisters form inside the body in places such as the mouth, esophagus, other internal organs or eyes. When the blisters heal, they can cause painful scarring. In severe cases, blisters and scars can harm internal organs and tissue enough to be fatal.

How many types of epidermolysis bullosa are there?

EB has four primary subtypes:

• EB simplex (EBS). EBS is the most common form of EB, and it can range from mild (not very painful) to severe (very painful). Blisters develop in the top layer of your skin (epidermis). The blisters rarely scar after they’ve healed.
• Junctional EB (JEB). JEB causes blisters to form in your mouth and airway. It’s rare, and it can range from moderate (uncomfortable, mild pain) to severe.
• Dystrophic EB (DEB). DEB causes blisters to grow in the middle layer of your skin (dermis). It can range from mild to severe.
• Kindler syndrome. In Kindler syndrome, blisters can form in all layers of your skin. It’s very rare.

Healthcare providers diagnose EBS, JEB and DEB according to your affected layers of skin. Kindler syndrome may appear as blisters throughout different layers of your skin.

Who does epidermolysis bullosa affect?

EB affects everyone. People of all sexes, races and ethnic backgrounds can have EB. However, you’re more likely to have EB if you have a parent with the disorder.

How common is epidermolysis bullosa?

An estimated 1 in 50,000 people in the United States have EB.

How does epidermolysis bullosa affect my body?

Severe cases of EB may cause blisters in your eyes, which can result in vision loss. It may result in severe scarring and deformities of your skin/muscles, making it difficult to move your fingers, hands, feet and joints. Some people with EB are at an increased risk of developing a type of skin cancer called squamous cell carcinoma. Death can sometimes occur during infancy due to severe infection (sepsis), breathing problems due to blocked airways, dehydration and malnutrition.

Is epidermolysis bullosa fatal?

It depends on what type of EB you have. Mild cases of EB aren’t fatal. People with severe cases of EB have a life expectancy that ranges from infancy to 30 years of age.