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What causes Dystrophic EB?

Updated: 8/19/2019
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GaleEncyofMedicine

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13y ago

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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

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Q: What causes Dystrophic EB?
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What are the three major forms of epidermolysis bullosa?

EB simplex, junctional EB, and dystrophic EB. These can range in severity from mild blistering to more disfiguring and life-threatening disease.


What areas does dystrophic EB usually affect?

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


What is the prognosis for patients with EB?

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


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The genetic mutations for junctional EB are found in the genes responsible for producing the protein Laminin-5.


What does the acronym DEBRA mean?

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.


What is dystrophic calcification of the metatarsal joint?

a metatarsal is a bone in your foot!


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