Zevaskyn (prademagene zamikeracel) for wound treatment in individuals with recessive dystrophic epidermolysis bullosa: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Le résumé fourni par la source

Collagen Type VII, Alpha-1 is encoded by the COL7A1 gene (HGNC:2214) on chromosome 3p21.31. Biallelic pathogenic variants in COL7A1 are associated with autosomal recessive dystrophic epidermolysis bullosa (RDEB), resulting from a defect of COL7A1 function in anchoring fibrils at the cell-cell or cell-matrix junctions.1 RDEB is characterized by chronic blistering and impaired wound healing starting as early as the neonatal period and is associated with debilitating pain, a high risk of infection, fibrosis at the affected areas with scarring that can result in fusion of digits, and other epidermal changes, as well as mucosal lesions that lead to sequelae including iron-deficient anemia and malnutrition.

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