{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T21:24:12Z","timestamp":1790285052462,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,2,19]],"date-time":"2013-02-19T00:00:00Z","timestamp":1361232000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Contact Dermatitis"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p><jats:bold>Background.<\/jats:bold> Loss\u2010of\u2010function mutations in the filaggrin gene (<jats:italic>FLG<\/jats:italic>) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris.<\/jats:p><jats:p><jats:bold>Objectives.<\/jats:bold> To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to <jats:italic>FLG<\/jats:italic> loss\u2010of\u2010function mutations.<\/jats:p><jats:p><jats:bold>Materials and methods.<\/jats:bold> In a prospective cohort study, genotype was determined for 459 study subjects for four <jats:italic>FLG<\/jats:italic> null alleles, and investigated for selected history, clinical and laboratory features.<\/jats:p><jats:p><jats:bold>Results.<\/jats:bold> Overall, 68 patients showed a mutation in the <jats:italic>FLG<\/jats:italic> alleles R501X, R2447X, S3247X, and\/or 2282del4. Flexural eczema, xerosis cutis, pityriasis alba, dirty neck, pulpitis sicca, hyperlinear palms, keratosis pilaris and family history of eczema were positively associated with <jats:italic>FLG<\/jats:italic> mutations (<jats:italic>p &lt; <\/jats:italic> 0.05). Although we observed a statistically significant correlation with higher serum IgE in <jats:italic>FLG<\/jats:italic> mutation carriers, allergic rhinoconjunctivitis and allergic asthma were not over\u2010represented in this group.<\/jats:p><jats:p><jats:bold>Conclusion.<\/jats:bold> This study shows further genotype\u2013phenotype correlations in patients with occupational irritant contact eczema and <jats:italic>FLG<\/jats:italic> mutation carrier status. These features may help to identify those with <jats:italic>FLG<\/jats:italic> mutations on a specific phenotype basis.<\/jats:p>","DOI":"10.1111\/j.1600-0536.2012.02171.x","type":"journal-article","created":{"date-parts":[[2013,2,19]],"date-time":"2013-02-19T19:30:02Z","timestamp":1361302202000},"page":"149-155","source":"Crossref","is-referenced-by-count":27,"title":["Genotype\u2013phenotype associations in filaggrin loss\u2010of\u2010function mutation carriers"],"prefix":"10.1111","volume":"68","author":[{"given":"Lilla","family":"Landeck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaike","family":"Visser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanja","family":"Kezic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swen M.","family":"John","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,19]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2007.10.006"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.sder.2008.04.001"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08730.x"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1039\/b717398a"},{"key":"e_1_2_7_6_2","unstructured":"Gendiagnostikgesetz\u2010GenDG.vom 31. 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