138. Inherited Disorders of Pigmentation

  1. Alan D. Irvine MD, FRCPI, FRCP3,4,
  2. Peter H. Hoeger MD5,6 and
  3. Albert C. Yan MD, FAAP, FAAD7,8
  1. Eli Sprecher MD, PhD1 and
  2. Dov Hershkovitz2

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch138

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

Sprecher, E. and Hershkovitz, D. (2011) Inherited Disorders of Pigmentation, 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.ch138

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, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

  2. 2

    Department of Pathology, Rambam Medical Center, Haifa, Israel

Publication History

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

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384



  • albinism;
  • dyschromatosis;
  • hyperpigmentation;
  • hypopigmentation;
  • melanin;
  • melanocytes;
  • pigmentation


Variation in skin pigmentation is among the most distinctive and socially significant human characteristics. Normal skin pigmentation is dependent upon efficient melanin synthesis and melanosome maturation within melanocytes, melanosome transfer to neighbouring keratinocytes and finally, melanosome degradation concomitant with keratinocyte terminal differentiation. Over the past two decades a large number of genetic defects have been found to underlie inherited monogenic dyspigmentation disorders, shedding light upon the complex machinery orchestrating human skin pigmentation. In the present chapter, we will review normal skin pigmentation and the clinical features, pathophysiology and treatment of the main inherited disorders of hypo- and hyperpigmentation.