Epidermolysis Bullosa Diagnosis

Epidermolysis bullosa (EB) is a rare condition that causes the skin to blister. Even minor rubbing may cause painful blistering in people with this condition.

EB is caused by mutations in genes involved in the formation of skin layers. Defective genes 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 carry a disease-causing genetic change. However, milder types can develop later in adulthood.

Dermatologists may suspect EB just from the appearance of the skin, however, laboratory tests are used 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 which skin layer (or layers) is affected.

Different microscopy techniques can be used to examine the skin sample taken by biopsy. One of them is immunofluorescent mapping, wherein scientists check if proteins needed for connecting tissues are missing or reduced in number. Another approach is electron microscopy, a technique that magnifies images to help identify detailed 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 specialists at a  genetic laboratory.

Families who are known to carry a defective gene associated with EB are at risk of having a baby who develops the condition. Prenatal testing can be conducted as early as 11 weeks into pregnancy. The procedure includes amniocentesis, where a small amount of amniotic fluid, which surrounds the fetus in the womb, is examined, or sampling the chorionic villi, which are projections of placenta that contain the same genetic material as the fetus.

If prenatal testing confirms the unborn baby has EB, parents are offered counseling to help them understand the results and decide how they wish to continue with the pregnancy.

Last updated: June 8, 2021

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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.