Mosaicism in cutaneous pigmentation

Abstract

Purpose of review: This article reviews the disorders of patterned dyspigmentation and discusses the pathogenesis of the pigmentary changes.

Recent findings: 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.

Summary: The causal heterogeneity of patterned dyspigmentation promises to reveal clues about the differentiation, function, and control of melanocytes in embryonic and postnatal development.