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Medical Health Encyclopedia
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Epidermolysis bullosa, dominant dystrophic
Epidermolysis bullosa, dominant dystrophic
Epidermolysis bullosa, dystrophic
Epidermolysis bullosa, dystrophic


Epidermolysis bullosa

Alternative Names:
Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome

Symptoms:

Symptoms depend on the type of epidermolysis bullosa, but can include:

  • Blistering of the skin as a result of minor trauma or temperature change
  • Blistering present at birth
  • Nail loss or deformed nails
  • Blistering in or around the mouth and throat, causing feeding difficulty or swallowing difficulty
  • Blistering around the eyes and nose
  • A hoarse cry, cough, or other respiratory difficulties
  • Dental abnormalities such as tooth decay
  • Alopecia (hair loss)
  • Milia (tiny white bumps or pimples)
Text Continues Below



For epidermolysis bullosa acquisita, there is an association with Crohn's disease (an inflammatory bowel disease) and, possibly, lupus. Symptoms of these conditions may be present, therefore, in adults who present with this type of epidermolysis bullosa.



Signs and tests:

Your physician may suspect epidermolysis bullosa based upon the appearance of the skin. A skin biopsy, genetic testing, and special microscopic tests applied to the skin samples are needed to confirm the diagnosis. Special skin tests also distinguish epidermolysis bullosa acquisita presenting in a child (which does happen on rare occasion) from other forms of epidermolysis bullosa.

Your doctor may also do a blood test to see if there is anemia. If there are wounds that are healing poorly, a culture may be done to check for bacterial infection.

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