Epidermolysis bullosa - Symptom
Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome
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 an upper 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.
- Reviewed last on: 10/10/2010
- 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.
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.
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