Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Pediatr Dermatol. 2019 Jan;36(1):72-84. doi: 10.1111/pde.13713. Epub 2018 Dec 18.


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.

Keywords: Waardenburg syndrome; depigmentation; hypomelanosis; leukoderma; melanocyte development; piebald trait; piebaldism.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Melanocytes / metabolism
  • Melanocytes / physiology*
  • Mutation
  • Phenotype
  • Piebaldism / diagnosis
  • Piebaldism / genetics*
  • Piebaldism / therapy
  • Waardenburg Syndrome / diagnosis
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / therapy