Dystrophic EB (DEB) causes blistering in the dermis, the inner layer of the skin. Symptoms range from mild to severe. DEB is caused by mutations in the gene COL7A1, which holds the instructions to make the protein collagen 7. There are 2 main subtypes: Dominant (DDEB) and Recessive (RDEB). DDEB causes blistering generally on the hands, elbows, knees, and feet. RDEB causes blisters both on the skin and inside the body. Individuals with RDEB have an increased risk for squamous cell carcinoma, and their life expectancy is age 30. RDEB is considered one of the most severe forms of EB.
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