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.
Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK. s.taibjee@virgin.net
S M
SM
Taibjee
D C
DC
Bennett
C
C
Moss
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