what is junctional eb
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:
There are 2 main subtypes:
- Generalized severe JEB, which causes severe symptoms and is often fatal in infancy. It is considered the most serious form of the disorder.
- Generalized intermediate JEB, which causes milder symptoms. Individuals with this type typically have a normal life expectancy.
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