118. Epidermolysis Bullosa

  1. Alan D. Irvine MD, FRCPI, FRCP3,4,
  2. Peter H. Hoeger MD5,6 and
  3. Albert C. Yan MD, FAAP, FAAD7,8
  1. Jemima E. Mellerio BSc, MD, FRCP1 and
  2. Jacqueline E. Denyer BSc, MD, FRCP2

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch118

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

How to Cite

Mellerio, J. E. and Denyer, J. E. (2011) Epidermolysis Bullosa, in Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch118

Editor Information

  1. 3

    Trinity College, Dublin, Ireland

  2. 4

    Our Lady's Children's Hospital, Dublin, Ireland

  3. 5

    University of Hamburg, Hamburg, Germany

  4. 6

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 7

    University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  6. 8

    The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Author Information

  1. 1

    Paediatric Dermatology, Great Ormond Street Hospital for Children, NHS Trust, London, UK

  2. 2

    Epidermolysis Bullosa Unit, Great Ormond Street Hospital for Children, NHS Trust, London, UK

Publication History

  1. Published Online: 24 MAY 2011
  2. Published Print: 3 JUN 2011

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

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Keywords:

  • dermo-epidermal junction;
  • blister;
  • genetic;
  • fragility;
  • mucous membrane;
  • dressings;
  • multidisciplinary;
  • pseudosyndactyly;
  • contracture;
  • nutrition

Summary

Epidermolysis bullosa (EB) comprises a number of inherited skin fragility disorders resulting from mutations in structural proteins that provide mechanical stability at the dermo-epidermal junction. Clinically, different types of EB vary enormously, both in terms of their severity and prognosis, as well as the range of extracutaneous features that may be present. Recognition of EB in newborns is paramount to providing optimal clinical care and minimising skin damage. An appropriate skin biopsy can determine the type of EB and direct subsequent molecular testing, with potential implications for counselling and future prenatal testing. Management of EB should be multidisciplinary reflecting the many systems besides the skin that may be involved.