Inherited Disorders of Pigmentation

Eli Sprecher*, Dov Hershkovitz

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

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.

Original languageEnglish
Title of host publicationHarper's Textbook of Pediatric Dermatology
Subtitle of host publicationThird Edition
PublisherWiley-Blackwell
Pages1-12
Number of pages12
Volume2
ISBN (Print)9781405176958
DOIs
StatePublished - 24 May 2011
Externally publishedYes

Keywords

  • Albinism
  • Dyschromatosis
  • Hyperpigmentation
  • Hypopigmentation
  • Melanin
  • Melanocytes
  • Pigmentation

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