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Author Carson, C.G.; Rasmussen, M.A.; Thyssen, J.P.; Menne, T.; Bisgaard, H. url  doi
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  Title Clinical presentation of atopic dermatitis by filaggrin gene mutation status during the first 7 years of life in a prospective cohort study Type Journal Article
  Year (down) 2012 Publication PloS one Abbreviated Journal PLoS One  
  Volume 7 Issue 11 Pages e48678  
  Keywords Child; Child, Preschool; Cohort Studies; Denmark/epidemiology; Dermatitis, Atopic/*epidemiology/*genetics; European Continental Ancestry Group/genetics; Genotype; Humans; Infant; Intermediate Filament Proteins/*genetics; Mutation/genetics; Polymerase Chain Reaction; Proportional Hazards Models; Prospective Studies; Risk Assessment; Statistics, Nonparametric  
  Abstract BACKGROUND: Filaggrin null mutations result in impaired skin barrier functions, increase the risk of early onset atopic dermatitis and lead to a more severe and chronic disease. We aimed to characterize the clinical presentation and course of atopic dermatitis associated with filaggrin mutations within the first 7 years of life. METHOD: The COPSAC cohort is a prospective, clinical birth cohort study of 411 children born to mothers with a history of asthma followed during their first 7 years of life with scheduled visits every 6 months, as well as visits for acute exacerbations of dermatitis. Atopic dermatitis was defined in accordance with international guidelines and described at every visit using 35 predefined localizations and 10 different characteristics. RESULTS: A total of 170 (43%) of 397 Caucasian children developed atopic dermatitis. The R501X and/or 2282del4 filaggrin null mutations were present in 26 (15%) of children with atopic dermatitis and were primarily associated with predilection to exposed skin areas (especially the cheeks and back of the hands) and an up-regulation of both acute and chronic dermatitis. Furthermore, we found the filaggrin mutations to be associated with a higher number of unscheduled visits (3.6 vs. 2.7; p=0.04) and more severe (moderate-severe SCORAD 44% vs. 31%; p=0.14), and widespread dermatitis (10% vs. 6% of the body area, p<0.001) with an earlier age at onset (246 vs. 473 days, p<0.0001) compared to wild-type. CONCLUSION: In children, filaggrin mutations seem to define a specific endotype of atopic dermatitis primarily characterized by predilection to exposed areas of the body, in particular hands and cheeks, and an up-regulation in both acute and chronic morphological markers. Secondary, this endotype is characterized by an early onset of dermatitis and a more severe course, with more generalized dermatitis resulting in more frequent medical consultations.  
  Address Copenhagen Prospective Studies on Asthma in Childhood; COPSAC, Health Sciences, University of Copenhagen, Copenhagen University Hospital, Gentofte, Copenhagen, Denmark  
  Corporate Author Thesis  
  Impact Factor 03,234 First Author Carson, C.G. Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Senior Author Bisgaard, H.  
  ISSN 1932-6203 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:23166590; PMCID:PMC3499508 Approved no  
  Call Number Serial 69  
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