Diagnosis

A doctor may suspect epidermolysis bullosa from the appearance of the affected skin. He or she will likely have your child undergo laboratory tests to confirm the diagnosis. They may include:

• Skin biopsy for immunofluorescent mapping. With this technique, a small sample of affected skin is removed and examined with a microscope and reflected light to identify the layer or layers of skin involved. This test also identifies whether the proteins needed for skin growth are functioning.
• Genetic testing. Genetic testing is sometimes used to confirm the diagnosis because most forms of epidermolysis bullosa are inherited. A small sample of blood is taken and sent to a lab for analysis.
• Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.