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Genetic Blistering Diseases

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Atlas of Dermatology, Dermatopathology and Venereology

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Abstract

Inherited epidermolysis bullosa (EB) encompasses a group of rare genetic disorders of the epidermal and dermal-epidermal junction complex, characterized by fragility of the skin and the mucous membranes, causing blistering and erosions after minor injury. The different types of EB present extreme phenotype variability; while some are mild, chronic and compatible with life, others are severe and associated with complications, morbidity, and increased mortality. Skin and mucous membranes are primarily affected by EB, but extracutaneous organs may be involved.

The main types of EB include EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome (KS).

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Authors and Affiliations

  1. Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy

    Annalisa Patrizi, Iria Neri & Giulia Maria Ravaioli

  2. Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    May El Hachem

  3. Department of Dermatology and Venerology, Faculty of Medicine, Medical Center – University of Freiburg, Freiburg, Germany

    Kristin Technau-Hafsi & Cristina Has

Authors
  1. Annalisa Patrizi
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  2. Iria Neri
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  3. May El Hachem
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  4. Giulia Maria Ravaioli
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  5. Kristin Technau-Hafsi
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  6. Cristina Has
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Corresponding authors

Correspondence to Annalisa Patrizi or Cristina Has .

Editor information

Editors and Affiliations

  1. Department of Pathology, Univ of Rochester School of Med, Rochester, NY, USA

    Bruce Smoller

  2. Khorramshahr, Iran

    Nooshin Bagherani

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Patrizi, A., Neri, I., El Hachem, M., Ravaioli, G.M., Technau-Hafsi, K., Has, C. (2020). Genetic Blistering Diseases. In: Smoller, B., Bagherani, N. (eds) Atlas of Dermatology, Dermatopathology and Venereology . Springer, Cham. https://doi.org/10.1007/978-3-319-45134-3_21-1

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  • DOI: https://doi.org/10.1007/978-3-319-45134-3_21-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-45134-3

  • Online ISBN: 978-3-319-45134-3

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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