Commentary
Journal of Investigative Dermatology (2006) 126, 1202–1204. doi:10.1038/sj.jid.5700367
Epidermal Differentiation Complex Yields a Secret: Mutations in the Cornification Protein Filaggrin Underlie Ichthyosis Vulgaris
Julia A Segre1
1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Correspondence: Dr. Julia A. Segre, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49/Room 4A26, MSC 4442, Bethesda, Maryland 20892, USA. E-mail: jsegre@nhgri.nih.gov
Abstract
Ichthyosis vulgaris (IV), characterized by mild scaling on limbs and lower abdomen, has an incidence of 1 in 250. Smith, McLean, and colleagues demonstrate that common mutations in filaggrin underlie IV. Filaggrin aggregates keratin intermediate filaments and is cross-linked into the cornified envelope to form the epidermal barrier. These findings reinforce the importance of the epidermal barrier in pathogenesis of skin diseases.
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