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Author Thyssen, J.P.; Ross-Hansen, K.; Johansen, J.D.; Zachariae, C.; Carlsen, B.C.; Linneberg, A.; Bisgaard, H.; Carson, C.G.; Nielsen, N.H.; Meldgaard, M.; Szecsi, P.B.; Stender, S.; Menne, T. url  doi
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  Title Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study Type Journal Article
  Year (down) 2012 Publication The British Journal of Dermatology Abbreviated Journal Br J Dermatol  
  Volume 166 Issue 1 Pages 46-53  
  Keywords Adolescent; Adult; Aged; Cross-Sectional Studies; Dermatitis, Atopic/*genetics; Female; Genotype; Hand Dermatoses/*genetics; Heterozygote; Humans; Intermediate Filament Proteins/*genetics; Male; Middle Aged; Mutation/*genetics; Skin Tests; Young Adult  
  Abstract BACKGROUND: Filaggrin metabolites act as osmolytes and are important for skin hydration. Carriers of filaggrin loss-of-function mutations have a higher prevalence of atopic dermatitis and dry skin. There is also evidence to suggest that filaggrin mutations increase the risk of hand eczema in atopic individuals. In our clinic, we have observed a distinct phenotype of hand eczema in patients with filaggrin mutation carrier status, characterized by fissured dermatitis on the dorsal aspect of the hands and with only sparse involvement of the palms including fine scaling. OBJECTIVES: To investigate whether filaggrin loss-of-function mutations are associated with skin fissures on the hands and/or fingers in the general population. METHODS: Participants in a population-based study were questioned about skin symptoms, genotyped for filaggrin mutation, patch tested for nickel allergy and skin prick tested. RESULTS: In an adjusted logistic regression analysis, filaggrin mutation status was significantly associated with fissured skin on the hands and/or fingers in adults (odds ratio 1.93, 95% confidence interval 1.05-3.55) and showed a nearly significant negative interaction with atopic dermatitis (P=0.055), suggesting that the effect was predominantly in subjects without atopic dermatitis. CONCLUSIONS: Filaggrin loss-of-function mutations seem not only to increase the risk of atopic dermatitis and dry skin but also the risk of fissures on the hands and/or fingers in subjects without atopic dermatitis. Prophylactic emollient therapy should be particularly encouraged in filaggrin loss-of-function mutation carriers.  
  Address National Allergy Research Centre, Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, University of Copenhagen, Niels Andersens Vej 65, 2900 Hellerup, Denmark. jacpth01@geh.regionh.dk  
  Corporate Author Thesis  
  Impact Factor 04,275 First Author Thyssen, J.P. Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Senior Author Menne, T.  
  ISSN 0007-0963 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:21777221 Approved no  
  Call Number Serial 67  
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