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Trends Mol Med. 2008 Jan;14(1):20-7. Epub 2007 Dec 18.

The filaggrin story: novel insights into skin-barrier function and disease.

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1
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St. Thomas' School of Medicine, London, UK.

Abstract

Recent reports have uncovered the key role of the protein filaggrin in maintaining an effective skin barrier against the external environment. Loss-of-function mutations in the profilaggrin gene (FLG) are common and are present in up to 10% of the population. These mutations are the cause of the semi-dominant skin-scaling disorder ichthyosis vulgaris and are a major risk factor for the development of atopic dermatitis. The discovery of these mutations also provides new data concerning the genetics of atopic asthma as well as intriguing insight into disease mechanisms of systemic allergies involving antigen exposure in skin with defective barrier function. Collectively, these novel findings have significant implications for the classification and future clinical management of patients with atopic and allergic diseases.

PMID:
18068483
DOI:
10.1016/j.molmed.2007.10.006
[Indexed for MEDLINE]
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