121. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses

  1. Alan D. Irvine MD, FRCPI, FRCP3,4,
  2. Peter H. Hoeger MD5,6 and
  3. Albert C. Yan MD, FAAP, FAAD7,8
  1. Daniel Hohl MD1 and
  2. Mary Williams2

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch121

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

Hohl, D. and Williams, M. (2011) Mendelian Disorders of Cornification (MEDOC): The Ichthyoses, 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.ch121

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

    Service de Dermatologie et Vénéréologie, CHUV Hopital de Beaumont, Lausanne, Switzerland

  2. 2

    University of California, San Francisco, CA, USA

Publication History

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

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

SEARCH

Keywords:

  • Mendelian Disorders of Cornification (MEDOC) - ichthyoses;
  • ichthyoses, related erythrokeratodermas - hereditary monogenic disorders;
  • heterogeneous group of diseases - scaling or hyperkeratosis;
  • known genetic bases of MEDOC;
  • provision of barrier to systemic evaporative water loss - in dry environment;
  • corneodesmosomes - rivets between adjacent corneocytes;
  • genetic testing for disorders;
  • neonatal presentations of MEDOC;
  • recessive X-linked ichthyosis;
  • molecular classification of ARCI TG1-deficient ARCI - abnormalities, cornified envelope in ARCI

Summary

This chapter contains sections titled:

  • Overview

  • Common ichthyoses and related syndromes

  • Keratodermic ichthyoses

  • Autosomal recessive congenital ichthyoses (ARCI)

  • Syndromic disorders of cornification

  • Management of the MEDOC

  • References