About Junctional EB (JEB)

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 COL17A1which 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.

Back to what is EB