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 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.