Patients with epidermolysis bullosa (EB) develop blisters due to very minor friction or skin trauma. In addition to the skin, the mucous membranes, nails and even internal organs may be affected. The rare disease may be very mild to very serious and can be fatal in some instances. It is almost always caused by inherited genes.

There are three main types of EB. The most common is epidermolysis bullosa simplex and is usually mild. Junctional epidermolysis bullosa may be mild or severe, with blisters seeming to form spontaneously. Dystrophic epidermolysis bullosa can be mild or very severe, with widespread scarring and deformity. A fourth type of the disease, which is very rare, is acquired rather than hereditary and generally mild.

Patients with EB have fragile skin that blisters very easily. The blisters may be accompanied by inflammation, itching (pruritus) and scarring. The nails of EB patients may be rough and thick, or may erode partially or completely. Mucous membranes, such as the eyes, may be affected, as may many internal organs (e.g., esophagus, intestine). In certain severe forms, deformity (e.g., fingers or toes fuse together) may occur.

EB is diagnosed with a physical examination and skin biopsy. There is no cure for EB and no treatment to completely control any form of the disease. Many complications of EB can be lessened or avoided through early intervention and many mild forms may require little or no treatment at all. Treatment is directed at the symptoms and is largely supportive and individualized. Tending to and dressing the blisters and wounds are among the most important aspects of treatment and medications (e.g., topical corticosteroids, analgesic and antibiotic creams) may be used in some instances. Proper nutrition is also important. Physical therapy and, in severe cases, surgery may be helpful.