Inherited Disorders of Pigmentation

Eli Sprecher*, Dov Hershkovitz

*Corresponding author for this work

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


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
Number of pages12
ISBN (Print)9781405176958
StatePublished - 24 May 2011
Externally publishedYes


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


Dive into the research topics of 'Inherited Disorders of Pigmentation'. Together they form a unique fingerprint.

Cite this