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Author Thyssen, J.P.; Carlsen, B.C.; Bisgaard, H.; Giwercman, C.; Johansen, J.D.; Linneberg, A.; Meldgaard, M.; Szecsi, P.B.; Stender, S.; Menne, T. url  doi
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  Title Individuals who are homozygous for the 2282del4 and R501X filaggrin null mutations do not always develop dermatitis and complete long-term remission is possible Type Journal Article
  Year (down) 2012 Publication Journal of the European Academy of Dermatology and Venereology : JEADV Abbreviated Journal J Eur Acad Dermatol Venereol  
  Volume 26 Issue 3 Pages 386-389  
  Keywords Adolescent; Adult; Aged; Denmark; Dermatitis, Atopic/*genetics; Female; Genotype; Homozygote; Humans; Intermediate Filament Proteins/*genetics; Longitudinal Studies; Male; Middle Aged; Mutation; Prospective Studies; Remission Induction; Risk Factors; Surveys and Questionnaires  
  Abstract BACKGROUND: About 8-10% of the general population in Europe carry a null mutation in the filaggrin gene which is associated with early onset of atopic dermatitis as well as persistence into adulthood. No studies have investigated whether individuals with the homozygous filaggrin null genotype always develop dermatitis. OBJECTIVES: The aim of this study was to describe the natural history of individuals with no filaggrin expression. MATERIALS: Three study populations were included: (i) a random sample of 3335 subjects aged 18-69 years from the general population in Copenhagen who underwent general health examination; (ii) a total of 499 patients seen in our dermatitis clinic since 2009 and who were filaggrin genotyped as a part of the routine diagnostic work up; and (iii) a prospective, longitudinal, birth cohort study of 411 children born to mothers with a history of asthma. Filaggrin genotyping was performed for the 2282del4 and R501X mutations. RESULTS: Filaggrin homozygous/compound heterozygous individuals accounted for 0.3% of adults, 3% of dermatitis patients and 0.7% of children. Respectively, one of nine adults and one of three children never experienced dermatitis until now. All hospital patients had atopic dermatitis with onset during (early) childhood. Year-long complete remission was observed in half of patients. CONCLUSIONS: The natural history of individuals with the filaggrin null genotype is fairly good in the sense that they may not develop dermatitis at all, and if they do, they may experience complete remission.  
  Address National Allergy Research Centre, Department of Dermato-Allergology, Gentofte Hospital, University of Copenhagen, Denmark. jacpth01@geh.regionh.dk  
  Corporate Author Thesis  
  Impact Factor 02,826 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 0926-9959 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:21501248 Approved no  
  Call Number Serial 73  
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