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Blistering Diseases pp 419–430Cite as

Dystrophic Epidermolysis Bullosa

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Abstract

Trauma-induced subepidermal blistering with milia formation, atrophic scarring, and dystrophic nail involvement are cutaneous hallmarks of dystrophic EB (DEB). Severe clinical phenotypes are further complicated by mutilating pseudosyndactyly of hands and feet with contractures and progressive disablement. While in dominant DEB extracutaneous manifestations other than esophageal involvement are rather uncommon, multisystemic disease, involving, e.g., gastrointestinal and genitourinary tract, is frequent in the generalized variants of recessive DEB and causes significant morbidity. The dramatically increased risk for early development of highly aggressive squamous cell carcinomas requires rigorous monitoring, especially in generalized severe RDEB (RDEB-gen sev).

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Authors and Affiliations

  1. Department of Dermatology, General Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria

    Martin Laimer MD, Johann W. Bauer MD, MBA & Helmut Hintner MD

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  1. Martin Laimer MD
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  2. Johann W. Bauer MD, MBA
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  3. Helmut Hintner MD
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Correspondence to Martin Laimer MD .

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Editors and Affiliations

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

    Dédée F. Murrell

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Laimer, M., Bauer, J.W., Hintner, H. (2015). Dystrophic Epidermolysis Bullosa. In: Murrell, D. (eds) Blistering Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45698-9_42

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  • DOI: https://doi.org/10.1007/978-3-662-45698-9_42

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  • Print ISBN: 978-3-662-45697-2

  • Online ISBN: 978-3-662-45698-9

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