Epidermolysis bullosa

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Epidermolysis bullosa, dominant dystrophic

Epidermolysis bullosa, dystrophic

Other treatments under investigation for epidermolysis bullosa include protein and gene therapy.

Epidermolysis bullosa acquisita may be treated with oral steroids and medication that suppresses the immune system. These may, however, increase the risk of secondary infection, particularly the latter drug category. Studies using interferon are also underway.

The outcome depends on the severity of the illness. Mild forms of epidermolysis bullosa improve with age. Scarring from several types of epidermolysis bullosa can restrict mobility significantly and, therefore, impair daily activities. Lethal forms of the epidermolysis bullosa have a very high mortality rate. (See Complications section.)

• Infection, including sepsis
• Esophageal stricture
• Periodontal disease
• Loss of function of hands and feet
• Eye disorders, even blindness
• Muscular dystrophy
• Severe malnutrition secondary to feeding difficulty, leading to failure to thrive
• Anemia
• Squamous cell skin cancer -- if someone with epidermolysis bullosa survives childhood, metastatic squamous cell cancer of the skin is the most common cause of death. This skin cancer occurs in those with recessively inherited dystrophic epidermolysis bullosa. Those with epidermolysis bullosa often develop this skin cancer between the ages of 15 and 35. In addition, the skin cancer can occur anywhere on the skin. In other words, unlike the general public, it is not more likely to happen in sun-exposed areas.
• Death -- death rate is as high as 87% in the first year of life for infants with the lethal form of junctional epidermolysis bullosa. On the other hand, dominantly inherited simplex and dystrophic epidermolysis bullosa, and mild forms of junctional epidermolysis bullosa may not lessen life expectancy at all.

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.

Review Date: 10/17/2006
Reviewed By: Michael S. Lehrer, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.