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棕红色白化病患者皮肤和毛囊中黑素细胞及黑素小体的超微结构研究

An ultrastructural study of melanocytes and melanosomes in the skin and hair bulbs of rufous albinos.

作者信息

Kidson S H, Richards P D, Rawoot F, Kromberg J G

机构信息

Department of Anatomy and Cell Biology, University of Cape Town Medical School, Observatory, South Africa.

出版信息

Pigment Cell Res. 1993 Aug;6(4 Pt 1):209-14. doi: 10.1111/j.1600-0749.1993.tb00604.x.

Abstract

We have examined hair bulb and skin melanocytes of rufous albinos from Southern Africa to further characterize this form of albinism. In the skin melanocytes we find both eumelanosomes and pheomelanosomes at various stages of melanization and, in addition, there appeared to be many aberrant incompletely melanized melanosomes. On average, rufous melanosomes are 30% smaller than normal black skin melanosomes. In the keratinocytes, the melanosomes are packaged into distinct aggregations, whereas in normal black skin, they occur singly. We suggest that the reddish skin color of these albinos is a consequence of an increase in the pheomelanin synthesis resulting in a raised pheomelanin/eumelanin ratio and that the aggregation of melanosomes results in a skin color slightly lighter than normal. In hair bulb melanocytes, only eumelanosomes were seen and these were mostly incompletely melanized. These findings correlate with our visual observations that the hair color of Southern African albinos is very pale (light brown or ginger). Based on our observations, we speculate on the possible cause of rufous albinism.

摘要

我们研究了来自非洲南部的赤褐色白化病患者的毛囊和皮肤黑素细胞,以进一步描述这种白化病形式的特征。在皮肤黑素细胞中,我们发现了处于不同黑素化阶段的真黑素小体和褐黑素小体,此外,似乎还有许多异常的、未完全黑素化的黑素小体。平均而言,赤褐色黑素小体比正常黑色皮肤黑素小体小30%。在角质形成细胞中,黑素小体被包装成明显的聚集体,而在正常黑色皮肤中,它们是单个出现的。我们认为,这些白化病患者皮肤呈红色是由于褐黑素合成增加,导致褐黑素/真黑素比例升高,并且黑素小体的聚集导致皮肤颜色比正常略浅。在毛囊黑素细胞中,只观察到了真黑素小体,并且这些真黑素小体大多未完全黑素化。这些发现与我们的视觉观察结果相符,即非洲南部白化病患者的头发颜色非常浅(浅棕色或姜黄色)。基于我们的观察,我们推测了赤褐色白化病的可能病因。

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