Translational perspectives to treat Epidermolysis bullosa-Where do we stand?

ABSTRACT: Epidermolysis bullosa (EB) is the prototypical example of genetic skin fragility disorders. Genotypic heterogeneity, modifier genes, epigenetic, biochemical and environmental factors alter and determine pathogenic traits and, ultimately, the wide and striking phenotypic variability in EB. Besides the primary structural-functional defect, chronic tissue damage with induction and dysregulation of inflammatory pathways is a common pathogenic mechanism in EB. In localized variants, the inflammatory aberrations may mainly affect the micromilieu of lesional skin, while a systemic inflammatory response was shown to contribute to the systemic morbidity in severe EB subtypes with extensive cutaneous involvement. Our continued understanding of the pathophysiology of EB, as well as advances in molecu

SUBMITTER: Prodinger C 

PROVIDER: S-EPMC7756480 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature