What are the forms of EB?
There are many types of EB Simplex. Most are caused by an autosomal dominant genetic mutation that leads to a defective keratin protein. Keratin proteins function as the scaffolding for the skin. When this scaffolding is not formed correctly, the skin is more likely to fall apart and form blisters. EB Simplex can be split up into two main types, Generalized and Localized. Blistering occurs all over the body in Generalized EB Simplex. Blistering only occurs in areas that receive the most trauma, usually the hands and feet, in the more common Localized EB Simplex. Junctional EB is an autosomal recessive condition that is caused by mutations in the genes that code for collagen 17 or laminin 5. Collagen 17 and laminin 5 are proteins that help anchor the skin together. Without them, the skin separates easily, causing blisters. Because this disease is autosomal recessive, parents can carry the genetic mutations and be completely healthy. Affected patients receive one copy of the abnormal gen
