Epidermolysis bullosa

Alternative names:

dominant and recessive epidermolysis bullosa; epidermolysis bullosa letalis; epidermolysis bullosa simplex; Weber-Cockayne syndrome

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.

Expectations (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

Calling your health care provider:

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.