Filaggrin Gene Defects and Dry Skin Barrier Function

  • Martin Willy Meyer
  • Jacob P. Thyssen


Filaggrin (filament-aggregating protein) has an important function in epidermal differentiation and barrier function. In 2006, it was reported that the two most common loss-of-function mutations (R501X and 2282del4) within the filaggrin gene were associated with ichthyosis vulgaris and atopic dermatitis. Approximately 9–10% of European populations are carrying these variants. Null mutations in the filaggrin gene may also increase the risk of hand eczema and alopecia areata in atopics but seems not to be associated with psoriasis. The discovery of filaggrin null mutations has been a major breakthrough for dermatology in terms of diagnostics and prognostics, but it has not yet been translated into therapeutic advances for patients with eczema or other skin disorders. The wild-type allele carried by heterozygotic individuals might be upregulated by small molecules acting on pathways controlling filaggrin gene expression. Thus, a potential therapeutic target may exist.


Atopic Dermatitis Null Mutation Alopecia Areata Contact Allergy Severe Atopic Dermatitis 
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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.Department of Dermato-AllergologyGentofte HospitalHellerupDenmark

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