Dystrophic EB is caused by mutations in genes for type VII collagen, the protein contained in the fibers anchoring the epidermis to the deeper layers of the skin
EB simplex, junctional EB, and dystrophic EB. These can range in severity from mild blistering to more disfiguring and life-threatening disease.
varies greatly in terms of severity, but more typically affects the arms and legs. In one variation, called Hallopeau-Siemens EB, repeated blistering and scarring of the hands and feet causes the fingers and toes to fuse, leaving them dysfunctional
varies depending on the subtype of the disease. Individuals with EB simplex can live long, fulfilling lives. The severity of the junctional and dystrophic forms of EB can vary greatly. Infants affected with some forms of the disease often do not survive
The genetic mutations for junctional EB are found in the genes responsible for producing the protein Laminin-5.
It stands for Dystrophic Epidermolysis Bullosa Research Association. It aims to help people with a skin problem which causes blistering and tearing at the slightest touch.
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results from mutations in genes responsible for keratin 5 and 14, which are proteins that give cells of the epidermis its structure. EB simplex is transmitted in an autosomal dominant fashion
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