107. Porphyrias

  1. Alan D. Irvine MD, FRCPI, FRCP3,4,
  2. Peter H. Hoeger MD5,6 and
  3. Albert C. Yan MD, FAAP, FAAD7,8
  1. Jose M. Mascaro1 and
  2. Henry W. Lim MD2

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch107

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

Mascaro, J. M. and Lim, H. W. (2011) Porphyrias, 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.ch107

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

    Department of Dermatology, Hospital Clinic, Barcelona, Spain

  2. 2

    Department of Dermatology, Henry Ford Health System, Detroit, MI, USA

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:

  • porphyrias, diseases - genetic, acquired enzyme deficiencies in haem metabolic pathway;
  • porphyrias, elevated levels of ALA - PBG, and no cutaneous manifestations;
  • haem biosynthetic pathway - enzyme deficiencies in porphyrias;
  • porphyrinogens, in pathway - spontaneous oxidation, detectable in specimens;
  • earliest, documented case of porphyria - that of King George III of England;
  • 5-Aminolaevulinate dehydratase - and 5-Aminolaevulinate dehydratase (ALAD);
  • porphobilinogen deaminase (PBGD) - or hydroxymethylbilane synthase;
  • uroporphyrinogen decarboxylase (UROD) - sequential decarboxylation, type I and III isomers of urogen;
  • porphyrias incidence in children - varying;
  • mixed porphyrias, management of acute attacks - hereditary coproporphyria and PV

Summary

This chapter contains sections titled:

  • References