Symptoms:

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

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

For epidermolysis bullosa acquisita, there is an association with 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.

Signs and tests:

Your doctor may suspect epidermolysis bullosa based on the appearance of the skin.

A skin biopsy, genetic testing, and special microscopic tests of skin samples are needed to confirm the diagnosis. Immunofluorescent tests or electron microscopy is usually done on skin biopsies.

Special skin tests are used to distinguish epidermolysis bullosa acquisita 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.

If there are swallowing or feeding difficulties, upper endoscopy or an upper GI series may be done.

Growth curves will be carefully watched in an infant with, or suspected of having, epidermolysis bullosa.

If there are contractures, the range of motion of limbs will be tested.