Alternate Names: Epidermolysis bullosa simplex; Epidermolysis bullosa letalis; Weber-Cockayne syndrome; Dominant and recessive epidermolysis bullosa

Causes and Risks: 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 inherited as either autosomal dominant or autosomal recessive traits.

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.

Prevention: Genetic counseling is recommended for prospective parents with a family history of any form of epidermolysis bullosa.

Symptoms:

• 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

Signs and Tests:

• contracture deformities
• esophageal stricture (benign)
• septicemia
• malnutrition
• anemia

• A skin biopsy determines how deeply the blistering extends into the skin.

Treatment: 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.

Prognosis: The outcome depends on the severity of the illness. Most forms are compatible with a reasonably comfortable lifestyle. The recessive dystrophic form is most likely to cause severe disability.

Complications:

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

If your infant exhibits any blistering shortly after birth call your health care provider. If you have a family history of epidermolysis bullosa, further interaction with your health care provider or a genetic counselor may be appropriate.