TY - JOUR
T1 - Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes
AU - Taibjee, SM
AU - Bennett, DC
AU - Moss, Celia
PY - 2004/1/1
Y1 - 2004/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=4544268599&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2133.2004.06057.x
DO - 10.1111/j.1365-2133.2004.06057.x
M3 - Article
C2 - 15327534
SN - 0007-0963
VL - 151
SP - 269
EP - 282
JO - British Journal of Dermatology
JF - British Journal of Dermatology
IS - 2
ER -