Atopic eczema and the filaggrin story

Sara J. Brown, Alan D. Irvine

    Research output: Contribution to journalArticle

    58 Citations (Scopus)

    Abstract

    The discovery that null mutations in the filaggrin gene (FLG) are associated with atopic eczema represents the single most significant breakthrough in understanding the genetic basis of this complex disorder. The association has been replicated in multiple independent studies during the past 2 years with the use of various methodologies, from populations in Europe, the United States, and Japan. Filaggrin plays a key role in epidermal barrier function, and its association with atopic eczema emphasizes the importance of barrier dysfunction in eczema pathogenesis. This review aims to summarize the current state of knowledge regarding the role of FLG mutations in ichthyosis vulgaris, atopic eczema, and other skin disorders, with an emphasis on potential clinical applications. Further research is needed to clarify the precise role of filaggrin in skin and systemic atopic disease, to pave the way for novel therapeutic interventions.

    Original languageEnglish
    Pages (from-to)128-137
    Number of pages10
    JournalSeminars in Cutaneous Medicine and Surgery
    Volume27
    Issue number2
    DOIs
    Publication statusPublished - Jun 2008

    Keywords

    • Of-function mutations
    • Cause ichthyosis vulgaris
    • Epidermal differentiation complex
    • Null mutations
    • Early onset
    • Confer susceptibility
    • Structural proteins
    • Autosomal dominant
    • Cornified envelope
    • Linked ichthyosis

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