Genetic disorders of pigmentation

More than 127 loci are actually known to affect pigmentation in mouse when they are mutated. From embryogenesis to transfer of melanin to the keratinocytes or melanocytes survival, any defect is able to alter the pigmentation process. Many gene mutations are now described, but the function of their product protein and their implication in melanogenesis are only partially understood. Each genetic pigmentation disorder brings new clues in the understanding of the pigmentation process. According to the main genodermatoses known to induce hypo- or hyperpigmentation, we emphasize in this review the last advances in the understanding of the physiopathology of these diseases and try to connect, when possible, the mutation to the clinical phenotype.