Table of Contents
- Overview
- Symptoms
- Treatment
- Prevention
- Images
Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome
Symptoms
Symptoms depend on the type of epidermolysis bullosa, but 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
Signs and tests
Your doctor may suspect epidermolysis bullosa based on the appearance of the skin.
Tests that are used to confirm the diagnosis:
- Genetic testing
-
Skin biopsy (usually with immunofluorescent tests or electron microscopy) - Special microscopic tests of skin samples
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:
- Blood test for anemia
- Culture to check for bacterial infection if wounds are healing poorly
-
Upper endoscopy or anupper GI series if there are swallowing or feeding difficulties
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.
Previous Section
Review Date: 10/10/2010
Reviewed By: Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of
Physician Assistant Studies, University of Washington, School of
Medicine. Also reviewed by Kevin Berman, MD, PhD, Atlanta Center
for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed
Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical
Director, A.D.A.M., Inc.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)
