Piebaldism (Q83802): Difference between revisions

Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered hypermelanotic and hypomelanotic macules and a triangular shaped hypomelanotic patch on the forehead. Typically, islands of hyperpigmentation are present within and at the border of hypomelanotic areas. Piebaldism differs from albinism in that the affected cells maintain the ability to produce pigment but have that specific function turned off. In albinism the cells lack the ability to produce pigment altogether. It may be associated with KIT or SNAI2 mutations.