title: Filaggrin mutations and the skin.
abstract: Filaggrin is very important in the terminal differentiation of the skin and the formation of cornified envelope in the stratum corneum. Several mutations in the filaggrin gene have been identified in the last decade, mostly from the European countries. Loss of function mutations in the filaggrin gene results in reduced production of filaggrin, depending on the type and site of mutation. Such mutations in the filaggrin gene have been shown to be the most significant genetic risk factor for development of atopic dermatitis and undoubtedly has a role in the pathogenesis of ichthyosis vulgaris. Though there is theoretical possibility of association with hand eczema and allergic contact dermatitis; in clinical studies, the strength of these associations was not significantly strong. In this review, we have discussed the structure and function of filaggrin, basic genetics, type of mutations in filaggrin gene, and association of such mutations with different dermatoses.
authors.affiliation: Department of Dermatology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Dipankar
authors.initials: D
authors.lastname: De
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Handa
mesh_terms: D017449:Dermatitis, Allergic Contact / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000235:genetics*; D004485:Eczema / Q000235:genetics*; D000091344:Filaggrin Proteins; D006229:Hand Dermatoses / Q000235:genetics; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics*; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins