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Keratins and Their Role in EB Simplex

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Blistering Diseases

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Abstract

Keratins are a major constituent of the epidermal cell cytoskeleton. Apart from their contribution to cell ability to resist mechanical stress, they have been shown to regulate additional biological processes of importance such as protein synthesis, cell migration, and apoptosis. Much of this knowledge has been gained through the study of rare disorders, known as keratinopathies, which are caused by mutations in genes encoding the various epidermal keratins. Epidermolysis bullosa simplex (EBS) is a congenital blistering disease resulting from defects in K5–K14 filament network architecture, which render keratinocytes susceptible to mechanical trauma. Nonstructural functions of basal keratins do also significantly contribute to the pathogenesis of EBS. Advances in our understanding of the molecular basis of keratin disorders have in turn recently led to the development of novel therapeutic approaches, raising new hopes for the treatment of this group of inherited skin diseases.

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Authors and Affiliations

  1. Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

    Mor Miodovnik MD, PhD & Eli Sprecher MD, PhD

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  1. Mor Miodovnik MD, PhD
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  2. Eli Sprecher MD, PhD
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Correspondence to Eli Sprecher MD, PhD .

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  1. Department of Dermatology, St George Hospital, University of New South Wales, Sydney, New South Wales, Australia

    Dédée F. Murrell

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Miodovnik, M., Sprecher, E. (2015). Keratins and Their Role in EB Simplex. In: Murrell, D. (eds) Blistering Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45698-9_3

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  • DOI: https://doi.org/10.1007/978-3-662-45698-9_3

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