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Molecular basis of inherited skin-blistering disorders, and therapeutic implications

  • Monique Aumailley (a1), Cristina Has (a2), Lucy Tunggal (a1) and Leena Bruckner-Tuderman (a2)
  • DOI: http://dx.doi.org/10.1017/S1462399406000123
  • Published online: 01 October 2006
Abstract

Epidermolysis bullosa (EB) and associated skin-fragility syndromes are a group of inherited skin diseases characterised by trauma-induced blistering of the skin and mucous membranes. Mutations in at least 14 distinct genes encoding molecular components of the epidermis or the dermal–epidermal junction (DEJ) can cause blistering skin diseases that differ by clinical presentation and severity of the symptoms. Despite great advances in discerning the genetic basis of this group of diseases, the molecular pathways leading to symptoms are not yet fully understood. Unravelling these pathways by molecular analysis of the structure and in vitro assessment of functional properties of the human proteins involved, combined with genetic models in lower organisms, should pave the way for specific cures for inherited skin fragility.

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Corresponding author
Corresponding author: Monique Aumailley, Institute for Biochemistry II, Joseph-Stelzmann-Str. 52, 50931 Cologne, Germany. Tel: +49 221 478 6991; Fax: +49 221 478 6977; E-mail: aumailley@uni-koeln.de
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Expert Reviews in Molecular Medicine
  • ISSN: -
  • EISSN: 1462-3994
  • URL: /core/journals/expert-reviews-in-molecular-medicine
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