Relationship between filaggrin and dermatoses: an update
- Author:
- No author available
- Journal Title:
- International Journal of Dermatology and Venereology
- Issue:
- 5
- DOI:
- 10.3760/cma.j.issn.1673-4173.2012.05.016
- Key Word:
- 中间丝蛋白质类;突变;皮肤疾病;Intermediate filament proteins;Mutation;Skin diseases
Abstract： Filaggrin (FLG) is an essential structural protein in skin barrier,which provides protection against various environmental harmful substances.Mutations or congenital defect of FLG-related genes will affect the protein expression of FLG,and result in a series of dermatoses characterized by skin barrier dysfunction.It has been demonstrated that FLG-related gene mutations are evidently associated with the development of atopic dermatitis and ichthyosis vulgaris,and possibly associated with alopecia areata and pachyonychia congenita syndrome,and null mutations of FLG-related genes may lower the age at onset of nickel dermatitis and increase nickel sensitivity.In short,FLG mutations may be associated with the development of many skin diseases,but more research is needed to determine whether FLG mutations are a specific pathogenetic factor for some skin disorders.
- [1]Hamada, T.,Sandilands, A.,Fukuda, S.,etc.De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis[J].2008,128(5).
- [2]Nomura, T.,Akiyama, M.,Sandilands, A.,etc.Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis[J].2009,129(5).
- [3]Carlsen BC,Meldgaard M,Hamann D,etc.Latex allergy and filaggrin null mutations.[J].2011,39(2).
- [4]Ross Hansen K,Menne T,Johansen JD,etc.Nickel reactivity and filaggrin null mutations--evaluation of the filaggrin bypass theory in a general population.[J].2011,64(1).
- [5]JP Thyssen,JD Johansen,BC Carlsen,etc.The filaggrin null genotypes R501X and 2282del4 seem not to be associated with psoriasis: results from general population study and meta‐analysis[J].2012,26(6).
- [6]O'Regan GM,Smith FJ,Zhao Y,etc.Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.[J].2006,126(8).
- [7]Susanne, Stemmler,Qumar, Parwez,Elisabeth, Petrasch-Parwez,etc.Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitis.[J].2007,127(3).