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Piebaldism
Author(s) -
Oiso Naoki,
Fukai Kazuyoshi,
Kawada Akira,
Suzuki Tamio
Publication year - 2013
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2012.01583.x
Subject(s) - biology , phenotype , genodermatosis , melanosome , hypopigmentation , genetics , gene , pigmentation disorder , mutation , scalp , melanin , anatomy
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.