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Epidermolysis bullosa

Definition

Epidermolysis bullosa is a group of disorders in which skin blisters form after a minor injury. It is passed down in families.

Alternative Names

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

Causes

There are 4 main types of epidermolysis bullosa. They are:

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.

Symptoms

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

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:

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:

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

Follow these guidelines at home:

SURGERY

Surgery to treat this condition may include:

OTHER TREATMENTS

Other treatments for this condition may include:

Outlook (Prognosis)

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:

Possible Complications

These complications may occur:

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 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).

References

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.


Review Date: 11/20/2014
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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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