Clinical characteristics of Korean patients with filaggrin-related atopic dermatitis

Abstract

BackgroundFilaggrin is a key protein involved in skin barrier function. Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris and have been shown to be major predisposing factors for atopic dermatitis (AD). AimTo investigative the clinical characteristics of patients with AD with FLG mutations and determine the differences between patients with AD with and without FLG mutations. MethodsWe identified FLG mutations in patients with AD by complete sequencing and SNaPshot methods, and then analysed the data on clinical characteristics from questionnaire responses. ResultsWe found that earlier age of AD onset (P < 0.05), tendency to respiratory atopy (P = 0.03), more severe clinical characteristics of AD (higher Eczema Area and Severity Index, P = 0.02) and decrease in skin hydration (P = 0.04) were associated with FLG-related AD. ConclusionOur data demonstrate that FLG mutations are indicators of a poor prognosis in AD, and are predisposing factors that exist in early infancy and persist into adulthood.