Piebaldism.
Piebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. It is caused by a loss-of-function mutation in the KIT gene. Genetic analyses reveal a consistent genotype-phenotype relationship in piebaldism. However, recently reported cases of piebaldism that are milder or severer than genetically expected indicate that other factors, such as a modifier gene of MC1R, influence skin and hair color. The KIT ligand/KIT that triggers the Ras/mitogen-activated protein kinase signaling pathway play essential functions in the migration, proliferation, survival, melanogenesis and melanosome transfer of the melanocytes. We summarize current research progress in piebaldism and related disorders.
Department of Dermatology, Kinki University Faculty of Medicine, Osakasayama, Japan. naoiso@med.kindai.ac.jp
Naoki
N
Oiso
Kazuyoshi
K
Fukai
Akira
A
Kawada
Tamio
T
Suzuki
D003937:Diagnosis, Differential; D060045:Genes, Modifier; D005838:Genotype; D006801:Humans; D010641:Phenotype; D016116:Piebaldism / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
D019009:Proto-Oncogene Proteins c-kit