Junctional EB is an autosomal recessive condition that is caused by mutations in the genes that code for collagen17 or laminin-5. Collagen17 and laminin-5 are proteins that help anchor the skin together. Without them the skin separates easily, causing blisters. There are many types of Junctional EB, and all of them cause widespread blistering. Some forms of Junctional EB improve as the patient gets older, while a rare form of Junctional EB can be fatal in infancy. Because this disease is autosomal recessive, parents can carry the genetic mutations and be completely healthy. Afflicted patients receive one copy of the abnormal gene from each parent
Posted on: Fri, 30 Aug 2013 14:52:42 +0000
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