127. Ectodermal Dysplasias

  1. Alan D. Irvine MD, FRCPI, FRCP2,3,
  2. Peter H. Hoeger MD4,5 and
  3. Albert C. Yan MD, FAAP, FAAD6,7
  1. Yuka Asai MD1 and
  2. Alan D. Irvine MD, FRCPI, FRCP2,3

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch127

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

Asai, Y. and Irvine, A. D. (2011) Ectodermal Dysplasias, 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.ch127

Editor Information

  1. 2

    Trinity College, Dublin, Ireland

  2. 3

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

  3. 4

    University of Hamburg, Hamburg, Germany

  4. 5

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 6

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

  6. 7

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

Author Information

  1. 1

    Division of Dermatology, McGill University, Montreal, Canada

  2. 2

    Trinity College, Dublin, Ireland

  3. 3

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

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:

  • connexin;
  • desmosome;
  • ectodermal dysplasia;
  • genodermatoses;
  • EDA;
  • EDAR;
  • EDARADD;
  • keratin;
  • NFκB;
  • p63

Summary

The ectodermal dysplasias are a large and varied group of disorders. In this chapter, the inherent difficulties related to classifying the ectodermal dysplasias are discussed. The ectodermal dysplasias are then grouped by their underlying molecular mechanisms delineated to date with clinicopathological correlation. The molecular basis of the ectodermal dysplasias includes broad categories of defects in signalling pathways, such as the nuclear factor κB (NF-κB), WNT-β-catenin, p63 and ectodermal dysplasin A signalling pathways, defects in transcription factors, and defects in structural or communicative elements, such as gap junctions, adhesive molecules and structural components such as keratins. The clinical aspects of the most common or well-described ectodermal dysplasias are provided in the text, and an exhaustive table is provided for reference. Management and complications specific to each ectodermal dysplasia are discussed. Some conditions that are ectodermal dysplasias but are traditionally discussed separately, such as incontinentia pigmenti and pachyonychia congenita, are discussed elsewhere in this book.