Lilla Landeck1, Maaike Visser, Sanja Kezic, Swen M John. 1. Department of Dermatology, Environmental Medicine and Health Theory, University of Osnabrück, 49090 Osnabrück, Germany. llandeck@uos.de
Abstract
BACKGROUND: Loss-of-function mutations in the filaggrin gene (FLG) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris. OBJECTIVES: To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to FLG loss-of-function mutations. MATERIALS AND METHODS: In a prospective cohort study, genotype was determined for 459 study subjects for four FLG null alleles, and investigated for selected history, clinical and laboratory features. RESULTS: Overall, 68 patients showed a mutation in the FLG 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 FLG mutations (p < 0.05). Although we observed a statistically significant correlation with higher serum IgE in FLG mutation carriers, allergic rhinoconjunctivitis and allergic asthma were not over-represented in this group. CONCLUSION: This study shows further genotype-phenotype correlations in patients with occupational irritant contact eczema and FLG mutation carrier status. These features may help to identify those with FLG mutations on a specific phenotype basis.
BACKGROUND: Loss-of-function mutations in the filaggrin gene (FLG) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris. OBJECTIVES: To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to FLG loss-of-function mutations. MATERIALS AND METHODS: In a prospective cohort study, genotype was determined for 459 study subjects for four FLG null alleles, and investigated for selected history, clinical and laboratory features. RESULTS: Overall, 68 patients showed a mutation in the FLG 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 FLG mutations (p < 0.05). Although we observed a statistically significant correlation with higher serum IgE in FLG mutation carriers, allergic rhinoconjunctivitis and allergic asthma were not over-represented in this group. CONCLUSION: This study shows further genotype-phenotype correlations in patients with occupational irritant contact eczema and FLG mutation carrier status. These features may help to identify those with FLG mutations on a specific phenotype basis.
Authors: Berran Yucesoy; Yerkebulan Talzhanov; M Michael Barmada; Victor J Johnson; Michael L Kashon; Elma Baron; Nevin W Wilson; Bonnie Frye; Wei Wang; Kara Fluharty; Rola Gharib; Jean Meade; Dori Germolec; Michael I Luster; Susan Nedorost Journal: J Occup Environ Med Date: 2016-08 Impact factor: 2.162
Authors: Kanwaljit K Brar; Agustin Calatroni; Evgeny Berdyshev; Shirley Palombi; Elena Goleva; Donald Y M Leung Journal: J Allergy Clin Immunol Pract Date: 2020-05-04