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GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA
A Journal on Dermatology and Sexually Transmitted Diseases
Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014
Giornale Italiano di Dermatologia e Venereologia 2005 December;140(6):667-76
Disorders due to mutations in keratin genes
O’Regan G. M., Irvine A. D.
Department of Paediatric Dermatology Our Lady’s Hospital for Sick Children Crumlin, Dublin , Ireland
Keratins are a unique molecular family and have emerged as a paradigm in the molecular investigation of many genodermatoses. The first keratin gene mutation to be associated with human disease was established in 1991 with the discovery of pathogenetic mutations underlying epidermolysis bullosa simplex. The sequencing of keratin disorders has had a direct impact on clinical practice with implications for prognosis and genetic counselling. Knowledge of specific pathogenic mutations provides the template for gene therapy in the future. A total of 19 human keratin genes are now linked to specific diseases, all with a fragile cell phenotype. This article discusses the basic biology and clinical and molecular aspects of specific disorders associated with human keratin gene mutations.