Festschrift: Professor Jenkins

Biology and genetics of oculocutaneous albinism and vitiligo – common pigmentation disorders in southern Africa

Prashiela Manga, Robyn Kerr, Michèle Ramsay, Jennifer G R Kromberg

Abstract


Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to decreased melanin production in melanocytes and loss of visual acuity. There are four non-syndromic forms, OCA1-4, which are classified based on the gene that is mutated (tyrosinase, OCA2, tyrosinase-related protein 1 and SLC45A2, respectively). Despite the fact that multiple genes account for the various forms of OCA, the phenotypes of all four forms result from disruption in the maturation and trafficking of the enzyme tyrosinase. OCA2 is the most prevalent autosomal recessive disorder among southern African blacks, affecting 1/3 900 individuals; while OCA3, although rare, is most prevalent in southern Africa. Another common pigmentation disorder in southern Africa is vitiligo, which affects 1 - 2% of people worldwide. Vitiligo is a complex, acquired disorder in which melanocytes are destroyed due to an autoimmune response. The aetiology underlying this disorder is poorly understood, although recent genetic association studies have begun to shed light on the contributing factors. Pigmentation disorders have significant psychosocial implications and co-morbidities, yet therapies are still lacking. Recent progress in our understanding of the pathobiology of both albinism and vitiligo may herald novel treatment strategies for these disorders. 


Authors' affiliations

Prashiela Manga, Ronald O Perelman Department of Dermatology and the Department of Cell Biology, New York University School of Medicine, New York, USA

Robyn Kerr, Division of Human Genetics, University of the Witwatersrand, and National Health Laboratory Service, Johannesburg, South Africa

Michèle Ramsay, Division of Human Genetics, University of the Witwatersrand, and National Health Laboratory Service, Johannesburg, South Africa

Jennifer G R Kromberg, Division of Human Genetics, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa

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Keywords

albinism; skin pigment; festschrift; Trefor Jenkins; human genetics

Cite this article

South African Medical Journal 2013;103(12):984-988. DOI:10.7196/SAMJ.7046

Article History

Date submitted: 2013-05-13
Date published: 2013-07-29

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