title: Genetic disorders of pigmentation.
abstract: 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.
authors.affiliation: Department of Dermatology, Archet-2 Hospital, 06202 Nice Cedex 3, France. t.passeron@free.fr
authors.forename: Thierry
authors.initials: T
authors.lastname: Passeron
authors.forename: Frédéric
authors.initials: F
authors.lastname: Mantoux
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Ortonne
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000818:Animals; D002648:Child; D002675:Child, Preschool; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease; D006801:Humans; D017495:Hyperpigmentation / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D017496:Hypopigmentation / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D015994:Incidence; D007223:Infant; D051379:Mice; D010858:Pigmentation / Q000235:genetics*; D010859:Pigmentation Disorders / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution