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A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes
Article first published online: 23 JUN 2009
DOI: 10.1111/j.1600-0625.2009.00896.x
© 2009 John Wiley & Sons A/S
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How to Cite
Dessinioti, C., Stratigos, A. J., Rigopoulos, D. and Katsambas, A. D. (2009), A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Experimental Dermatology, 18: 741–749. doi: 10.1111/j.1600-0625.2009.00896.x
Publication History
- Issue published online: 11 AUG 2009
- Article first published online: 23 JUN 2009
- Accepted for publication 26 March 2009
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Keywords:
- biology;
- genes;
- hereditary skin diseases;
- hypomelanoses;
- melanin;
- melanocyte;
- molecular defects
Abstract: 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.