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Epidermolysis bullosa

Alternative names

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


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

Causes, incidence, and risk factors

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

Signs and tests

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.

Expectations (prognosis)

The outcome depends on the severity of the illness. Most forms are compatible with a reasonably comfortable lifestyle.


  • 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.


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

Update Date: 10/27/2003

Jeffrey Drayer, M.D., Dermatologist, Los Angeles, CA. Review provided by VeriMed Healthcare Network.

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Last updated: Tue, 06 Jan 2009 00:20:03 GMT