Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes

Research output: Contribution to journalArticle


  • SM Taibjee
  • DC Bennett
  • Celia Moss

Colleges, School and Institutes


There is increasing evidence that hypomelanosis of Ito and related disorders such as linear and whorled naevoid hypermelanosis are due to mosaicism for a variety of chromosomal abnormalities. This group of disorders is better termed 'pigmentary mosaicism'. In this review we explain how disparate chromosomal abnormalities might manifest as a common pigmentary phenotype. In particular, we provide evidence supporting the hypothesis that the chromosomal abnormalities reported in these disorders specifically disrupt expression or function of pigmentary genes.


Original languageEnglish
Pages (from-to)269-282
Number of pages14
JournalBritish Journal of Dermatology
Issue number2
Publication statusPublished - 1 Jan 2004