Mosaicism in cutaneous pigmentation.
OBJECTIVE
This article reviews the disorders of patterned dyspigmentation and discusses the pathogenesis of the pigmentary changes.


RESULTS
A range of cytogenetic abnormalities has been detected in patterned pigmentary disease. This molecular heterogeneity correlates with the wide spectrum of clinical phenotypes observed. Many of the molecular defects overlap with genes known to play a role in pigmentation. Our understanding of the underlying genetic mechanisms for these mosaic conditions is evolving with advances in technology and dissection of the molecular pathways involved in melanocyte biology.


CONCLUSIONS
The causal heterogeneity of patterned dyspigmentation promises to reveal clues about the differentiation, function, and control of melanocytes in embryonic and postnatal development.
Lombillo
Vivian A
VA
Division of Dermatology, Department of Medicine, University of Washington, Department of Dermatology, Group Health Permanente, Seattle, Washington 98195-6524, USA. lombillo@u.washington.edu
Sybert
Virginia P
VP
D000782:Aneuploidy; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology*