Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes
- PMID: 15327534
- DOI: 10.1111/j.1365-2133.2004.06057.x
Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes
Abstract
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.
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