{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:08:09Z","timestamp":1791079689208,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,1,7]],"date-time":"2013-01-07T00:00:00Z","timestamp":1357516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Federal Ministry for Education and Research","award":["GFGM01143901"],"award-info":[{"award-number":["GFGM01143901"]}]},{"name":"Medical Faculty","award":["OJI120817"],"award-info":[{"award-number":["OJI120817"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ichthyosis vulgaris (<jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>) is caused by loss\u2010of\u2010function mutations in the profilaggrin (<jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content>) gene. Filaggrin drives complex interrelated functions, with strategic roles in establishing structural and chemical barrier function, hydration of the skin and maintaining epidermal homeostasis. Data on the effect of <jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content> mutations on epidermal barrier function in <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> are very scarce.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>A primary aim of this study was to determine <jats:italic>in vivo<\/jats:italic> characteristics of epidermal permeability barrier function such as transepidermal water loss (<jats:styled-content style=\"fixed-case\">TEWL<\/jats:styled-content>), skin hydration and skin surface pH in homozygous or compound heterozygous (<jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content><jats:sup>\u2212\/\u2212<\/jats:sup>) and heterozygous (<jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content><jats:sup>+\/\u2212<\/jats:sup>) subjects with <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated a cohort of 15 patients with <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>, analysed epidermal ultrastructure and investigated epidermal barrier function by measurement of <jats:styled-content style=\"fixed-case\">TEWL<\/jats:styled-content>, skin surface pH and skin hydration. Mutations were screened by restriction enzyme analysis and\/or complete sequencing. Ten patients were homozygous or compound heterozygous (<jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content><jats:sup>\u2212\/\u2212<\/jats:sup>), while five patients were heterozygous (<jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content><jats:sup>+\/\u2212<\/jats:sup>). Twenty healthy individuals served as controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In <jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content><jats:sup>\u2212\/\u2212<\/jats:sup> subjects, a moderate increase of <jats:styled-content style=\"fixed-case\">TEWL<\/jats:styled-content> from 5.41\u00a0\u00b1\u00a00.32\u20137.54\u00a0\u00b1\u00a00.90\u00a0g\/m<jats:sup>2<\/jats:sup>h (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.03) and a moderate decrease of skin hydration from 29.20\u00a0\u00b1\u00a01.96 to 20.17\u00a0\u00b1\u00a03.60 (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.05) in comparison with the control group were observed. Changes in skin surface pH were not significant. <jats:styled-content style=\"fixed-case\"><jats:italic>FLG<\/jats:italic><\/jats:styled-content><jats:sup>+\/\u2212<\/jats:sup> subjects did not suffer from significant changes in all variables.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A complete, but not a partial deficiency is associated with moderate changes in <jats:styled-content style=\"fixed-case\">TEWL<\/jats:styled-content> and skin hydration, revealing surprisingly only a mild disturbance of the epidermal permeability barrier function.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.12079","type":"journal-article","created":{"date-parts":[[2013,1,7]],"date-time":"2013-01-07T14:21:22Z","timestamp":1357568482000},"page":"1552-1558","source":"Crossref","is-referenced-by-count":29,"title":["Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function 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