黑素细胞的发育是由复杂的相互关联的基因调控网络和协同相互作用协调的。Piebaldism和Waardenburg综合征是由参与该复杂网络的基因突变引起的神经病理学。我们对黑素细胞发育的理解，Piebaldism,Waardenburg综合征在过去的十年中得到了显着改善。Waardenburg综合征的诊断和分型,1992年首次提出，基于表型，在过去的三十年里，已经扩大到包括基因型。这篇综述的重点是目前对人类黑素细胞发育的理解以及Piebalism和Waardenburg综合征的评估和管理。管理通常具有挑战性，需要采用多学科方法。
Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. The diagnosis and classification of Waardenburg syndrome, first proposed in 1992 and based on phenotype, have expanded over the past three decades to include genotype. This review focuses on the current understanding of human melanocyte development and the evaluation and management of Piebaldism and Waardenburg syndrome. Management is often challenging and requires a multidisciplinary approach.
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