Genetic Disorders of Pigmentation

Abstract Differences in skin and hair colour are principally the result of differences in the melanin content of skin. The synthesis of melanin takes place in melanocytes within specialised vesicles known as melanosomes, then distributed to surrounding keratinocytes. Development of skin pigmentation is a complex multistep process that is tightly regulated. Mutations in genes involved in any one of these steps may lead to pigmentary manifestations. Genetic pigmentary disorders provide a way to improve understanding of the development and the regulation of pigmentation.