Epidermolysis bullosa

Definition

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

Causes

There are four main types of EB. They are:

Another rare type of EB is called epidermolysis bullosa acquisita. This form develops after birth. It is an autoimmune disorder, which means the body attacks itself.

EB can vary from minor to fatal. The minor form causes blistering of the skin. The fatal form affects other organs. Most types of this condition start at birth or soon after. It can be hard to identify the exact type of EB a person has, although specific genetic markers are now available for most.

Family history is a risk factor. The risk is higher if a parent has this condition.

Symptoms

Depending on the form of EB, symptoms can include:

Exams and Tests

Your health care provider will look at your skin to diagnose EB.

Tests that are used to confirm the diagnosis include:

Skin tests may be used to identify the form of EB.

Other tests that may be done include:

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

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 EB improve with age. Very serious forms of EB 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 provider. If you have a family history of EB 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, a test called chorionic villus sampling may be used to test the baby. For couples at high risk of having a child with EB, the test can be done as early as week 8 to 10 of pregnancy. Talk to your provider.

To prevent skin damage and blistering, wear padding around injury-prone areas such as the elbows, knees, ankles, and buttocks. Avoid contact sports.

If you have EB acquisita and are on steroids for longer than 1 month, you may need calcium and vitamin D supplements. These supplements may help prevent osteoporosis (thinning bones).


Review Date: 10/14/2018
Reviewed By: Michael Lehrer, MD, Clinical Associate Professor, Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

This information 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. © 1997- 2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.