Plotnick H, Lupulescu A
J Am Acad Dermatol. 1983 Dec;9(6):876-82. doi: 10.1016/s0190-9622(83)70202-1.
Electron microscopic observations of both sun-exposed and sun-protected skin from a black patient with xeroderma pigmentosum (XP) revealed abnormal ultrastructural changes in the melanin pigmentary system, tonofibrillar-desmosome complexes, endoplasmic reticulum, mitochondria, and nucleoli of all keratinocytes. The difference between the cellular changes in the sun-exposed skin and that protected from sunlight was quantitative rather than qualitative in character. The most salient changes were seen in sun-exposed specimens: melanosomes limited by a membrane showed a high degree of polymorphism with a tendency to form large complexes, and many fibroblast-like cells displayed an intense phagocytic activity for melanosomes, the latter finding not previously reported. The present study supports the conclusions of other investigators that XP is a heterogeneous disease. Clarification of the XP entities by continued research may identify the defective gene and lead to methods of correction by the molecular biologist.
对一名患有着色性干皮病（XP）的黑人患者暴露于阳光下和受到防晒保护的皮肤进行电子显微镜观察，结果显示所有角质形成细胞的黑色素色素系统、张力原纤维 - 桥粒复合体、内质网、线粒体和核仁均出现异常超微结构变化。暴露于阳光下的皮肤和免受阳光照射的皮肤细胞变化之间的差异在性质上是定量的而非定性的。在暴露于阳光下的标本中观察到最显著的变化：被膜包绕的黑素小体表现出高度的多态性，并有形成大复合体的趋势，并且许多成纤维细胞样细胞对黑素小体表现出强烈的吞噬活性，后一发现此前未见报道。本研究支持其他研究者的结论，即XP是一种异质性疾病。通过持续研究阐明XP的各个类型可能会鉴定出缺陷基因，并为分子生物学家带来校正方法。
