Spritz Richard A
Human Medical Genetics Program, University of Colorado Health Sciences Center, P.O. Box 6511, Mail-stop 8300, Aurora, 80045, USA.
J Dermatol Sci. 2006 Jan;41(1):3-10. doi: 10.1016/j.jdermsci.2005.10.001. Epub 2005 Nov 9.
Generalized vitiligo is an acquired disorder in which patches of depigmented skin, overlying hair, and oral mucosa result from progressive autoimmune loss of melanocytes from the involved areas. Although vitiligo is perhaps the most common pigmentary disorder, insufficiently clear clinical definition of the disorder and lack of a good laboratory animal model have inhibited progress in understanding its pathobiology, its environmental triggers, and in developing specific and effective therapeutic approaches. Vitiligo results from a complex interaction of environmental, genetic, and immunologic factors, which ultimately contribute to melanocyte destruction, resulting in the characteristic depigmented lesions. In the past few years, studies of the genetic epidemiology of generalized vitiligo have led to the recognition that vitiligo is part of a broader, genetically-determined, autoimmune/autoinflammatory diathesis. Attempts to identify genes involved in vitiligo susceptibility have involved both allelic association studies of candidate genes and genome-wide linkage analyses to discover new genes, and these studies have begun to shed light on the mechanisms of vitiligo pathogenesis. It is anticipated that the discovery of biological pathways of vitiligo pathogenesis will provide novel therapeutic and prophylactic targets for future approaches to the treatment and prevention of vitiligo and its associated autoimmune diseases.
泛发性白癜风是一种后天性疾病，其受累部位的皮肤色素脱失斑、覆盖其上的毛发以及口腔黏膜是由黑素细胞进行性自身免疫性丧失所致。尽管白癜风可能是最常见的色素沉着障碍性疾病，但该疾病临床定义不够清晰，且缺乏良好的实验动物模型，这阻碍了我们在理解其病理生物学、环境触发因素以及开发特定有效治疗方法方面取得进展。白癜风是环境、遗传和免疫因素复杂相互作用的结果，这些因素最终导致黑素细胞破坏，从而形成特征性的色素脱失性皮损。在过去几年中，泛发性白癜风的遗传流行病学研究使人们认识到，白癜风是更广泛的、由基因决定的自身免疫/自身炎症素质的一部分。试图鉴定与白癜风易感性相关基因的研究包括对候选基因的等位基因关联研究以及全基因组连锁分析以发现新基因，这些研究已开始揭示白癜风发病机制。预计白癜风发病生物学途径的发现将为未来白癜风及其相关自身免疫性疾病的治疗和预防方法提供新的治疗和预防靶点。
