{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:23:01Z","timestamp":1761060181743},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,8,13]],"date-time":"2016-08-13T00:00:00Z","timestamp":1471046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"JSPS KAKENHI","award":["15H04887"],"award-info":[{"award-number":["15H04887"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic>, which encodes profilaggrin, cause ichthyosis vulgaris (<jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>) and are an important predisposing factor for atopic dermatitis (<jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>). <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> shows autosomal hemidominant (semidominant) inheritance, and patients with bi\u2010allelic <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> mutations tend to have severe <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> phenotypes. However, the effect of bi\u2010allelic <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> mutations on <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> incidence and severity remains a subject of controversy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>In this study, we studied individuals with bi\u2010allelic null <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> mutations to elucidate the effect of bi\u2010allelic <jats:italic>FLG<\/jats:italic> mutations on <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> incidence and severity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Six individuals with bi\u2010allelic <jats:italic>FLG<\/jats:italic> null mutations from three families of <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> were investigated. We report the detailed clinical features of the individuals. The phenotype was confirmed by the clinical examinations and the severity of <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> was scored using ichthyosis score and Eczema Area and Severity Index (<jats:styled-content style=\"fixed-case\">EASI<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>It was found that five of the six patients had severe <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>, and the remaining patient showed moderate <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>. Two of the six had moderate <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> and three of the six had mild <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>. The remaining patient had no <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results suggest that individuals with bi\u2010allelic <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> mutations do not always have severe <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> and confirm that not all individuals with bi\u2010allelic <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> mutations have <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.13871","type":"journal-article","created":{"date-parts":[[2016,8,13]],"date-time":"2016-08-13T11:22:44Z","timestamp":1471087364000},"page":"158-162","source":"Crossref","is-referenced-by-count":13,"title":["Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis"],"prefix":"10.1111","volume":"31","author":[{"given":"A.","family":"Sekiya","sequence":"first","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Kono","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Tsujiuchi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Kitakawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Showa University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Toyohashi Municipal Hospital Toyohashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Yamanaka","sequence":"additional","affiliation":[{"name":"Department of Dermatology Mie University School of Medicine Tsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Sueki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Showa University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.H.I.","family":"McLean","sequence":"additional","affiliation":[{"name":"Centre for Dermatology and Genetic Medicine College of Life Sciences and College of Medicine Dentistry &amp; 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