[Filaggrin gene mutations are frequent and increase the risk of skin disease].
Filaggrin proteins are important for the epidermal differentiation and skin barrier function. About 10% of Europeans carry loss-of-function mutations within the filaggrin gene complex. Mutations are strongly associated with ichthyosis vulgaris and atopic dermatitis as well as dry and fissured skin. No overall association with psoriasis vulgaris has been identified. The filaggrin gene discovery has been a major breakthrough for dermatology in terms of diagnostics and prognostics, but it has not yet been translated into therapeutic advances.
Dermato-allergologisk Afdeling, Gentofte Hospital, Niels Andersens Vej 65, 2900 Hellerup. martinwmeyer@hotmail.com.
Martin Willy
MW
Meyer
Jacob Pontoppidan
JP
Thyssen
D003876:Dermatitis, Atopic / Q000235:genetics; D000091344:Filaggrin Proteins; D006229:Hand Dermatoses / Q000235:genetics; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics; D007381:Intermediate Filament Proteins / Q000235:genetics*; D009154:Mutation; D011565:Psoriasis / Q000235:genetics; D012307:Risk Factors; D012871:Skin Diseases / Q000209:etiology / Q000235:genetics*
C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins