Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes.
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.
Taibjee
S M
SM
Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK. s.taibjee@virgin.net
Bennett
D C
DC
Moss
C
C
D041321:Chromosomes, Human, X / Q000235:genetics; D004251:DNA Transposable Elements / Q000235:genetics; D016208:Databases, Factual; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics
D004251:DNA Transposable Elements