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单基因色素性皮肤病:遗传学与病理生理学

Monogenic pigmentary skin disorders: genetics and pathophysiology.

作者信息

Hershkovitz Dov, Sprecher Eli

机构信息

Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

出版信息

Isr Med Assoc J. 2008 Oct;10(10):713-7.

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.

摘要

几个世纪以来,皮肤色素沉着在社会中一直扮演着重要角色,而皮肤色素沉着的遗传性疾病一直引发着普通人和医生的好奇心。正常的皮肤色素沉着是一个复杂的过程,始于黑素细胞内黑色素的合成,随后转移至邻近的角质形成细胞,在那里黑色素转移至细胞核的上极,并随着角质形成细胞经历终末分化而降解。在胚胎发育过程中,参与黑素细胞迁移、黑色素合成、黑素小体功能及转移的各种基因发生突变已被证明会导致色素沉着障碍。在本综述中,我们将讨论正常的皮肤色素沉着以及某些色素减退和色素沉着过多疾病的遗传学基础。

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