Epidermolysis bullosa (EB) is a rare, inherited condition that causes the skin to blister. The skin of people with EB is so fragile that even minor rubbing may cause painful blistering.

EB is caused by defective genes that may be inherited from one or both parents, although sometimes it  happens spontaneously. The disease also can be the result of the immune system mistakenly attacking its own skin proteins.

It usually is diagnosed in babies and children, or even in an unborn child, of parents who are known to have or carry the disease.

Epidermolysis Bullosa Diagnosis

Epidermolysis bullosa usually is diagnosed in babies and children, but milder types can develop later in adulthood. Dermatologists can suspect EB just from the appearance of the skin, however, there are laboratory tests to confirm the diagnosis. These include a skin biopsy and genetic testing.

Skin biopsy

A small sample of skin is taken to be examined. This technique can help identify the layer of the skin affected by the disease, as well as the proteins involved. Different microscopy techniques, from immunofluorescent mapping to high-power electron microscopy, can be used to examine the skin sample taken by biopsy. But first a microscope and reflected light is used to check if proteins needed for forming connecting tissues are missing or reduced in number. The electron microscope magnifies images and identifies structural defects in the skin.

Genetic testing

Genetic testing is used to identify defective genes in people with EB and their family members. It uses a small sample of blood that is sent to a specialist genetic laboratory.

Families who are known to carry a defective gene associated with EB, have a risk of having a baby who develops the condition. Prenatal testing can determine whether the unborn baby has inherited the disease-causing gene. It is possible to perform test as early as the 11th week of pregnancy. Prenatal testing includes amniocentesis, where a small amount of the liquid that surrounds the fetus in the womb of a pregnant woman is examined, or through sampling the chorionic villus, which is a part of the outer membrane that surrounds the fetus.

Note: Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Lupus News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Lupus.