Clinical Characteristics of Filaggrin-Related Atopic Dermatitis Patients in Korea

Background: Filaggrin 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).

Objective: The purpose of this study was to investigative the clinical characteristics of AD patients with FLG mutations and determine the differences between AD patients with and without FLGmutation.

Methods: We identified the FLGmutations of AD patients by complete sequencing and snapshot methods and then analyzed the data on clinical characteristics from questionnaire responses.

Results: We found that earlier age of AD onset (p=0.047), tendency to respiratory atopy (p=0.029), more severe AD clinical characteristics (higher EASI score, p=0.018), and decrease in skin hydration (p=0.04) were associated with FLG-related AD.

Conclusion: Our 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.