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.
|Title of host publication
|Harper's Textbook of Pediatric Dermatology
|Subtitle of host publication
|Number of pages
|Published - 24 May 2011