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A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes
Author(s) -
Dessinioti Clio,
Stratigos Alexander J.,
Rigopoulos Dimitris,
Katsambas Andreas D.
Publication year - 2009
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.2009.00896.x
Subject(s) - hypopigmentation , albinism , melanocyte , oculocutaneous albinism , waardenburg syndrome , biology , phenotype , pigmentation disorder , microphthalmia associated transcription factor , genetics , disease , hereditary diseases , gene , medicine , pathology , melanoma , transcription factor
Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. The discovery of genes that regulate melanocytic development and function and the identification of disease‐causative mutations have greatly improved our understanding of the molecular basis of pigmentary genodermatoses and their underlying pathogenetic mechanisms. Pigmentation mutants can account for hypo‐/amelanosis, with or without altered melanocyte number, resulting in different phenotypes, such as Waardenburg syndrome, piebaldism, Hermansky‐Pudlak syndrome, Chediak‐Higashi syndrome, oculocutaneous albinism and Griscelli syndrome. In this review, we summarize the basic concepts of melanocyte biology and discuss how molecular defects in melanocyte development and function can result in the development of hypopigmentary hereditary skin diseases.