• J. Dermatol. · May 2013

    Review

    Piebaldism.

    • Naoki Oiso, Kazuyoshi Fukai, Akira Kawada, and Tamio Suzuki.
    • Department of Dermatology, Kinki University Faculty of Medicine, Osakasayama, Japan. naoiso@med.kindai.ac.jp
    • J. Dermatol. 2013 May 1; 40 (5): 330-5.

    AbstractPiebaldism 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.© 2012 Japanese Dermatological Association.

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