117. Review of Keratin Disorders

  1. Alan D. Irvine MD, FRCPI, FRCP2,3,
  2. Peter H. Hoeger MD4,5 and
  3. Albert C. Yan MD, FAAP, FAAD6,7
  1. Maurice A. M. van Steensel MD, PhD and
  2. Peter M. Steijlen RGN, RSCN, RHV

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch117

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

van Steensel, M. A. M. and Steijlen, P. M. (2011) Review of Keratin Disorders, 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.ch117

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. Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands

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:

  • keratin disorders - a review;
  • keratinization, stratum corneum formation process - complex;
  • effects of keratin mutations - and basics of keratin biology;
  • keratins, as obligate heterodimers - type I and type II chains;
  • differentiation - specific expression of keratins;
  • HaCaT cell transfected with green fluorescent protein-labelled keratin 1 construct;
  • inherited forms of epidermolysis bullosa (EB) - reclassified, EB simplex (EBS);
  • disorders, caused by keratin mutations;
  • symptoms of Naegeli–Franceschetti–Jadassohn syndrome (NFJS) - absence of dermatoglyphics (fingerprint lines), skin hyperpigmentation;
  • keratins, expressed in multitude of epithelia - as non-keratinizing ones

Summary

This chapter contains sections titled:

  • Introduction

  • Keratin biology

  • Disorders caused by keratin mutations

  • Conclusion

  • References