Epidermolysis bullosa

Alternative Names

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 skin trauma and to avoid high environmental temperatures.

To prevent infection, excellent skin care is required, especially if any blistered areas become crusted or denuded (exposed or raw). Follow the instructions of your health care provider closely. Recommendations might include regular whirlpool therapy and application of topical antibiotics to these wound-like areas. Your health care provider will let you know if a bandage or dressing is required, and what type.

If there are swallowing difficulties, use of oral steroids for short periods of time may be prescribed. Long term use of steroids for epidermolysis bullosa is generally not recommended, however. If candida is present in the mouth or esophagus, medication for that secondary infection would be prescribed as well.

Good dental hygiene is very important, including regular dental visits. It is best to be followed by a dentist with experience treating those with epidermolysis bullosa.

Proper nutrition is also important. When skin injury is extensive, increased calorie and protein intake may be necessary to help recovery. Work closely with a nutritionist. When blisters or complications are present in the mouth or esophagus, hard or brittle foods (such as pretzels, nuts, and chips) should be avoided. Eating soft foods can help prevent worsening of these lesions.

Working with a physical therapist can help maintain the range of motion of involved joint areas and minimize contractures.

Skin grafting for denuded or ulcerated areas of the skin may be necessary. Other surgical procedures for complications of epidermolysis bullosa might be recommended as well. Such surgeries include dilation of the esophagus if a stricture (narrowing) is present, repair of hand deformities, and removal of squamous cell carcinoma lesions if they develop.

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.

Outlook (Prognosis)

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.)

Possible Complications

• 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.

When to Contact a Medical Professional

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.