Epidermolysis Bullosa: Overview, Symptoms, And Treatment

Epidermolysis Bullosa (EB) is a rare disease which causes the skin to be extremely fragile and vulnerable to blisters

. The blisters may develop both on the outer skin and inside the body along the linings of the mouth and in other internal organs such as the esophagus, respiratory tract, stomach, intestine, and genitals. Even minor rubbing, without the victims knowledge, can cause these blisters to form and cause extreme pain. The disease is believed to be have a genetic basis and is caused by a mutation of the keratin gene. In severe cases, this disease can be life threatening.

Epidermolysis Bullosa affects about 2-4 out of every 100,000 people in the United States. Both men and women of all ages and races have been equally impacted by the disease. The most obvious sign of infection is blistering. Others include redness and heat around open areas of the skin, pus or yellow discharge, crusting on the wound, wounds that wont heal, and fevers and chills.

There are three major forms of Epidermolysis Bullosa. These include EB Simplex, EB Junctional and EB Dystrophic. EB Simplex affects the epidermis or outer layer of skin. In EB Simplex, blistering normally occurs on the hands and feet, although it could develop all over the body. EB simplex is the most common form of Epidermolysis Bullosa. The Junctional and Dystrophic are the more severe but less common variants of the disease. They affect an area of the skin known as the basement membrane zone, which is where the epidermis and dermis (the inner layer of skin) meet. EB Junctional can affect the lining of the gut making swallowing difficult; infants affect by this disease do not survive past the toddler years. EB Dystrophic results in severe scarring of external skin, including the hands, feet, and face, as well as the gastrointestinal tract.

Treatment

There is no cure for EB and treatment is symptomatic. The goal is to protect the skin as much as possible to avoid the formation of blisters and prevent infections from developing. Dermatologists commonly prescribe topical and oral medications to facilitate healing. Some measures that victims should take include maintaining a cool environment and good nutrition (even if swallowing is difficult), applying lotion, wearing soft clothing, using sheepskin on furniture to reduce friction against the skin, and treating blisters as prescribed by their physicians. In severe cases such as when scarring has narrowed the esophagus and made it difficult for food to go down, surgery may be necessary.

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