Epidermolysis bullosa

Causes

There are four main types of epidermolysis bullosa:

• Dystrophic epidermolysis bullosa
• Epidermolysis bullosa simplex
• Hemidesmosomal epidermolysis bullosa
• Junctional epidermolysis bullosa

Another rare type of epidermolysis bullosa called epidermolysis bullosa acquisita, is an autoimmune disorder.

Epidermolysis bullosa can vary from minor blistering of the skin to a life-threatening form that affects other organs.  Most types of condition start at birth or soon after. It can be hard to identify the exact type of epidermolysis bullosa a person has.

Having a family history of the disease, and especially having a parent with it, is a risk factor.

Symptoms

Depending on the form of the condition, symptoms can include:

• Alopecia (hair loss)
• Blisters aound the eyes and nose
• Blisters in or around the mouth and throat, causing feeding problems or swallowing difficulty
• Blisters on the skin as a result of minor injury or temperature change
• Blistering that is present at birth
• Dental problems such as tooth decay
• Hoarse cry, cough, or other breathing problems
• Milia (tiny white bumps or pimples)
• Nail loss or deformed nails

Exams and Tests

Your doctor will look at your skin to diagnose epidermolysis bullosa.

Tests that are used to confirm the diagnosis include:

• Genetic testing
• Skin biopsy
• Special tests of skin samples under a microscope

Skin tests are used to tell epidermolysis bullosa acquisita in a child from other forms of epidermolysis bullosa.

Other tests that may be done include:

• Blood test for anemia
• Culture to check for bacterial infection if wounds are healing poorly
• Upper endoscopy or an upper GI series if symptoms include swallowing problems

Growth rate will be checked often for a baby who has or may have epidermolysis bullosa.

Treatment

The goal of treatment is to prevent blisters from forming and avoiding complications. Other treatment will depend on how bad the condition is.

HOME CARE

• Take good care of your skin to prevent infections.
• Follow your health care provider's advice if blistered areas become crusted or raw. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your health care provider will let you know if you need a bandage or dressing, and if so, what type to use.
• You may need to use oral steroid medicines for short periods of time if you have swallowing problems. You may also need to take medicine if you get a candida (yeast) infection in the mouth or throat. 
• Take good care of your oral health and get regular dental check ups. It is best to see a dentist who has experience treating people with epidermolysis bullosa.
• Eat a healthy diet. When you have a lot of skin injury, you may need extra calories and protein to help your skin heal. Choose soft foods and avoid nuts, chips, and other crunchy foods if you have sores in your mouth. A nutritionist can help you with your diet.
• Do exercises you get from a physical therapist to help keep your joints and muscles mobile.

SURGERY

• Skin grafting in places where sores are deep 
• Dilation of the esophagus if there is a narrowing (stricture)
• Repair of hand deformities
• Removal of any squamous cell carcinoma that develops

OTHER TREATMENTS

• Medicines that suppresses the immune system may be used for the autoimmune form of the condition.
• Protein and gene therapy and the use of the drug interferon are being studied. 

Outlook (Prognosis)

The outlook depends on the severity of the illness.

Infection of the blistered areas (secondary infection) is common.

Mild forms of epidermolysis bullosa improve with age.Very serious forms of epidermolysis bullosa have a very high mortality rate.

In the severe forms, scarring after blisters form may cause:

• Contracture deformities (for example, at the fingers, elbows, and knees) and other deformities
• Swallowing problems if mouth and esophagus are affected
• Fused fingers and toes
• Limited mobility from scarring

Possible Complications

• Anemia
• Reduced life span for severe forms of the condition
• Esophageal stricture
• Eye problems, including blindness
• Infection, including sepsis
• Loss of function in the hands and feet
• Muscular dystrophy
• Periodontal disease
• Severe malnutrition caused by feeding difficulty, leading to failure to thrive
• Squamous cell skin cancer

When to Contact a Medical Professional

If your infant has any blistering shortly after birth, call your health care provider. If you have a family history of epidermolysis bullosa and plan to have children, you may want to have genetic counseling.

Prevention

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

During pregnanc, chorionic villus sampling to test the fetus is available. For couples at high risk of having a child with epidermolysis bullosa, the test can be done as early as week 8 - 10 of pregnancy. Talk to your obstetrician and genetic counselor.

To prevent skin damage and blistering, it may help to wear padding around injury-prone areas such as the elbows, knees, ankles, and buttocks. Contact sports should be avoided.

Patients with epidermolysis bullosa acquisita who are on steroids for longer than 1 month may need calcium and vitamin D supplements to prevent osteoporosis.

Alternative Names

Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome

References

Vesicular and bullous diseases. In: Habif TP, ed. Clinical Dermatology. 5th ed. Philadelphia, Pa: Mosby Elsevier;2009;chap 16.

Fine JD, Mellerio JE. Epidermolysis Bullosa. In: Bolognia JL, Jorizzo JL, Schaffer JV, et al, eds.Dermatology. 3rd ed. Philadelphia, Pa:Mosby Elsevier; 2012:chap 32.

Update Date: 11/20/2012

Updated by: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.