title: Monogenic pigmentary skin disorders: genetics and pathophysiology.
abstract: For centuries skin pigmentation has played a major societal role, and genetic disorders of skin pigmentation have always evoked the curiosity of both laypersons and physicians. Normal skin pigmentation is a complex process that begins with the synthesis of melanin within the melanocytes, followed by its transfer to neighboring keratinocytes where it is translocated to the upper pole of the nucleus and degraded as the keratinocyte undergoes terminal differentiation. Mutations in various genes involved in melanocyte migration during embryogenesis, melanin synthesis and melanosomal function and transfer have been shown to cause pigmentation disorders. In the present review, we discuss normal skin pigmentation and the genetic underpinning of selected disorders of hypo- and hyperpigmentation.
authors.affiliation: Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. dov_her@zahav.net.il
authors.forename: Dov
authors.initials: D
authors.lastname: Hershkovitz
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D049109:Cell Proliferation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008543:Melanins / Q000378:metabolism; D008544:Melanocytes / Q000378:metabolism* / Q000473:pathology; D010859:Pigmentation Disorders / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D008543:Melanins