Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome
Epidermolysis bullosa is a group of inherited disorders in which skin blisters develop in response to minor injury.
There are four main types of epidermolysis bullosa:
Another rare type of epidermolysis bullosa called epidermolysis bullosa acquisita, is an autoimmune disorder. It may be difficult to tell this condition apart from another autoimmune skin disorder called mucous membrane pemphigoid.
Identifying the exact type of epidermolysis bullosa is complicated. Even within the main types listed above, there are many subtypes. For example, Weber-Cockayne is the most common form of epidermolysis bullosa simplex. This type involves blistering of the palms and soles and may include excess sweating.
Epidermolysis bullosa can vary from minor blistering of the skin to a lethal form involving other organs. The condition generally starts at birth or soon after.
Epidermolysis bullosa acquisita usually appears in adults over age 50, although it can occur in children. It is linked to Crohn's disease (an inflammatory bowel disease) and possibly lupus. Adults with this type of epidermolysis bullosa may also have symptoms of these other conditions.
Mild cases of epidermolysis bullosa simplex may not be diagnosed until adulthood.
All types of epidermolysis bullosa are usually inherited. Having a family history of the disease, and especially having a parent with it, is a risk factor.
Symptoms depend on the type of epidermolysis bullosa, but can include:
Your doctor may suspect epidermolysis bullosa based on the appearance of the skin.
Tests that are used to confirm the diagnosis:
Special skin tests are used to tell epidermolysis bullosa acquisita in a child from other forms of epidermolysis bullosa.
Other tests that may be done:
Growth curves will be carefully watched in an infant who has, or is believed to have epidermolysis bullosa.
If there are contractures, limb range of motion will be tested.
The goal of treatment is to prevent blisters from forming and complications. How much treatment is needed depends on how severe the disease is. Recommendations often include avoiding skin damage (trauma) and hot environments.
Skin grafting for denuded or ulcerated areas of the skin may be necessary. Other surgical procedures for complications of epidermolysis bullosa might be recommended. Such surgeries include:
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 infection or damage the liver or kidneys. Studies using interferon are also under way.
The outlook depends on the severity of the illness. Mild forms of epidermolysis bullosa improve with age.
In the severe forms, scarring after blisters form may cause:
Very serious forms of epidermolysis bullosa have a very high mortality rate.
Secondary infection is common.
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 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.
Vesicular and bullous diseases. In: Habif TP, ed. Clinical Dermatology. 5th ed. Philadelphia, Pa: Mosby Elsevier;2009;chap 16.
Morelli JG. Vesiculobullous disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 653.
© 2011 University of Maryland Medical Center (UMMC). All rights reserved.
UMMC is a member of the University of Maryland Medical System,
22 S. Greene Street, Baltimore, MD 21201. TDD: 1-800-735-2258 or 1.866.408.6885