Health Encyclopedia - Disease
Epidermolysis bullosa is a group of disorders in which skin blisters form after a minor injury. It is passed down in families.
Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome
There are 4 main types of epidermolysis bullosa. They are:
- Dystrophic epidermolysis bullosa
- Epidermolysis bullosa simplex
- Hemidesmosomal epidermolysis bullosa
- Junctional epidermolysis bullosa
Another rare type of epidermolysis bullosa is called epidermolysis bullosa acquisita. It is an autoimmune disorder, which means the body attacks itself.
Epidermolysis bullosa can vary from minor blistering of the skin to a life-threatening form that affects other organs. Most types of this 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.
Depending on the form of the condition, symptoms can include:
- Alopecia (hair loss)
- Blisters around 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
- Tiny white bumps or pimples
- Nail loss or deformed nails
Exams and Tests
Your health care provider 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 if a child has epidermolysis bullosa acquisita or another form 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.
The goal of treatment is to prevent blisters from forming and avoiding complications. Other treatment will depend on how bad the condition is.
Follow these guidelines at home:
- 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 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 a physical therapist shows you to help keep your joints and muscles mobile.
Surgery to treat this condition may include:
- Skin grafting in places where sores are deep
- Dilation (widening) of the esophagus if there is a narrowing
- Repair of hand deformities
- Removal of any squamous cell carcinoma (a type of skin cancer) that develops
Other treatments for this condition may include:
- Medicines that suppress the immune system may be used for the autoimmune form of this condition.
- Protein and gene therapy and the use of the drug interferon are being studied.
The outlook depends on the severity of the illness.
Infection of the blistered areas is common.
Mild forms of epidermolysis bullosa improve with age. Very serious forms of epidermolysis bullosa have a very high death 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 the mouth and esophagus are affected
- Fused fingers and toes
- Limited mobility from scarring
These complications may occur:
- Reduced life span for severe forms of the condition
- Esophageal narrowing
- Eye problems, including blindness
- Infection, including sepsis (infection in the blood or tissues)
- 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.
Genetic counseling is recommended for prospective parents who have a family history of any form of epidermolysis bullosa.
During pregnancy, 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 to 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 (thinning bones).
Fine JD, Mellerio JE. Epidermolysis Bullosa. In: Bolognia JL, Jorizzo JL, Schaffer JV, et al., eds. Dermatology. 3rd ed. Philadelphia, PA: Elsevier Mosby; 2012:chap 32.
Habif TP. Vesicular and bullous diseases. In: Habif TP, ed. Clinical Dermatology. 5th ed. Philadelphia, PA: Elsevier Mosby; 2009:chap 16.
Reviewed By: Richard J. Moskowitz, MD, dermatologist in private practice, Mineola, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.