Monogenic pigmentary skin disorders: Genetics and pathophysiology

Dov Hershkovitz*, Eli Sprecher

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


For centuries skin pigmentation has played a major societal role, and genetic disorders of skin pigmentation have always evoked the curiosity of both laypersons and physicians. Normal skin pigmentation is a complex process that begins with the synthesis of melanin within the melanocytes, followed by its transfer to neighboring keratinocytes where it is translocated to the upper pole of the nucleus and degraded as the keratinocyte undergoes terminal differentiation. Mutations in various genes involved in melanocyte migration during embryogenesis, melanin synthesis and melanosomal function and transfer have been shown to cause pigmentation disorders. In the present review, we discuss normal skin pigmentation and the genetic underpinning of selected disorders of hypo- and hyperpigmentation.

Original languageEnglish
Pages (from-to)713-717
Number of pages5
JournalIsrael Medical Association Journal
Issue number10
StatePublished - Oct 2008
Externally publishedYes


  • Genetics
  • Keratinocytes
  • Melanin
  • Pigmentation
  • Skin


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