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      • Effect of genetic and environmental factors on the skin barrier

        ( Sanja Kezic ) 한국피부장벽학회 2022 한국피부장벽학회지 Vol.24 No.2

        The skin provides a vital interface between the body and the environment. It forms an effective barrier against uncontrolled water loss from the body whilst, at the same time protects from harmful effects of external stressors such as UV-radiation, pathogens and hazardous chemicals. The functional levels of cutaneous barrier comprise physical, chemical, immune and antimicrobial barriers, which are strongly interconnected and can be affected by genetic as well as environmental factors. Epidermal barrier dysfunction is increasingly recognized as an important etiological factor in allergic disorders which are not limited to the skin but also include other body sites, such as the intestine and the lung. The barrier function of the epidermis is regulated by expression of numerous genes, most of which are specifically expressed in the late steps of keratinocyte differentiation and lipid biosynthesis. Loss-of-function mutations in the gene encoding epidermal protein filaggrin (FLG) are the most studied genetic factor associated with defective skin barrier. The carriers of FLG mutations have increased risk for atopic dermatitis (AD), a frequent inflammatory skin disease which is characterized by a skin barrier dysfunction. Experimental and epidemiological studies demonstrated that deficient levels of filaggrin increase percutaneous penetration of allergens and environmental hazardous chemicals such as particulate matter and pesticides. Beyond FLG mutations, a number of other factors play a role in the regulation of filaggrin expression including Th-2 mediated inflammation, air humidity and exposure to skin irritants. In everyday life the skin is exposed to a variety of physical and chemical stressors that can negatively affect its barrier function. Exposure to detergents, dry air, UV-radiation or allergens may affect the skin barriers by different mechanisms including direct damage of the stratum corneum structural components or by interfering with biochemical pathways responsible for the maintenance of the skin barrier. In this talk recent advances in our understanding of how the environmental and genetic factors may affect the skin barriers and the role of skin barrier in development and course of inflammatory skin diseases will be addressed. Furthermore, recent intervention studies aimed at skin barrier repair will be reviewed.

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