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Review

Update on diagnosis and therapy of inherited epidermolysis bullosa

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Pages 721-733 | Published online: 10 Jan 2014
 

Abstract

Inherited epidermolysis bullosa (EB) represents a clinically and genetically heterogeneous group of genodermatoses, characterized by skin blistering after minor trauma. There has been substantial development in the understanding of the molecular mechanisms of EB and, recently, the guidelines for classification and diagnosis have been revised. Owing to the great accessibility of the skin and of the well-known genetic background, EB has been an attractive candidate disease for different molecular therapies. This review focuses on the clinical and diagnostic aspects of the diseases and on very recently reported experimental therapies.

Acknowledgement

The authors thank Leena Bruckner-Tuderman for critical reading of the manuscript.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

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