In individuals with Junctional EB (JEB), blisters form between the dermis and epidermis, in the basement membrane zone (BMZ). These blisters occur both on the skin and inside of the body. JEB is caused by mutations in the genes LAMA3, LAMB3, or LAMC3, which hold the instructions to make the protein laminin 332, and the gene COL17A1, which holds the instructions to make the protein collagen 17. There are 2 main subtypes, Herlitz and Non-Herlitz JEB. Herlitz JEB causes severe symptoms and is often fatal in infancy. It is considered the most serious form of the disorder. Non-Herlitz EB causes milder symptoms and individuals with this type have a normal life expectancy.
Life with junctional ebMeet Ryan: Click on his photo to read about his life with Junctional EB.
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Other EB SubtypesClick below to learn about the other 3 major subtypes of Epidermolysis Bullosa: EB Simplex, Dystrophic EB, and Kindler Syndrome.
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