342 The disruption of lipid metabolism and the role of leptin in the pathophysiology of Severe Recessive Dystrophic Epidermolysis Bullosa

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable rare skin fragility disorder characterized by deficient dermo-epidermal adhesion due to mutations in COL7A1 gene. Modifying genes and epigenetic factors, mainly associated with inflammation, contribute to clinical severity, and are key to the design of novel effective therapies. The goal of this omics study is to expand the knowledge of the molecular mechanisms of RDEB in a homogeneous cohort with a high prevalence of hypolipidemia (low cholesterol and their transporters: HDL, LDL) correlating with inflammation.