Epidermolysis bullosa

Alternative names:

dominant and recessive epidermolysis bullosa; epidermolysis bullosa letalis; epidermolysis bullosa simplex; Weber-Cockayne syndrome

Symptoms:

• a family history of epidermolysis bullosa or an affected parent
• 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 with feeding difficulty or swallowing difficulty

Signs and tests:

• contracture deformities
• esophageal stricture (benign)
• septicemia
• malnutrition
• anemia

Tests:

• A skin biopsy determines how deeply the blistering extends into the skin.