Epidermolysis bullosa is a group of inherited disorders in which massive blistering of the skin develops in response to minor trauma.

Epidermolysis bullosa consists of several different conditions, varying in severity from minor blistering to a lethal form in which the constant massive blistering and scarring ultimately lead to death. These conditions are frequently inherited.

The hallmark of these conditions is the formation of large, fluid-filled blisters that develop in response to minor trauma. Some infants may have large blisters at birth. Others start shortly after birth. Chafing (wearing away) of the skin, rubbing, or even increased room temperature may cause blisters to form.

In the severe forms, scarring after blister formation may cause deformities, fusion of the fingers and toes, contracture deformities (as at the fingers, elbows and knees) and mouth and esophagus scarring that leads to feeding and swallowing difficulties. Secondary infection is common.

• a family history of epidermolysis bullosa or an affected parent
• blistering of the skin as a result of minor trauma or temperature change
• blistering present at birth
• nail loss or deformed nails
• blistering in or around the mouth and throat with feeding difficulty or swallowing difficulty

Your physician may suspect epidermolysis bullosa based upon the appearance of the skin. A skin biopsy and genetic testing may be needed to confirm this diagnosis.

The goal of treatment is to prevent the formation of blisters and subsequent complications. The intensity of care depends upon the severity of the disease. Recommendations often include measures to avoid all skin trauma and to avoid high environmental temperatures. Severe forms may require constant medical intervention.

• infection
• esophageal stricture
• loss of function of the hands and feet
• severe malnutrition secondary to feeding difficulty