Pasquali-Ronchetti I, Baccarani-Contri M, Young R D, Vogel A, Steinmann B, Royce P M
Institute of General Pathology, University of Modena, Italy.
Exp Mol Pathol. 1994 Aug;61(1):36-57. doi: 10.1006/exmp.1994.1024.
Ultrastructural studies of the skin and aorta of a patient with Menkes disease, an X-linked recessive disorder of copper metabolism, are described. Dermal thickness was normal, while dermal collagen fibrils exhibited a heterogeneous size range, with a mean diameter smaller than normal. Long-spacing collagen was often observed near fibroblasts, the plasma membranes of which were decorated by aggregates of interwoven filaments. Dermal elastin fibers were scarce and consisted of thin strands of amorphous elastin associated with numerous microfibrils. In the aorta, the amount of collagen was normal, although the fibrils displayed a broader range of diameters than normal, with a slightly smaller mean. Elastin fibers showed considerable disruption, appearing fragmented and wider than normal, and displaying irregular contours. The inclusion of cationic dyes during tissue fixation gave rise to numerous electron-dense precipitates within the elastin fibers, suggesting the presence there of glycosaminoglycans or proteoglycans, among which unsulfated and sulfated chondroitins were demonstrated by immunoelectron microscopy to be prominent. Heparan sulfate, observed to be a constituent of normal elastin fibers, was much reduced in amount. Elastin was also found associated with glycosaminoglycans in the soluble matrix of the aortic wall.
本文描述了一名患有门克斯病（一种X连锁隐性铜代谢障碍疾病）患者的皮肤和主动脉的超微结构研究。皮肤厚度正常，而真皮胶原纤维呈现出大小不一的范围，平均直径小于正常。在成纤维细胞附近经常观察到长间距胶原，其质膜被交织的细丝聚集体所修饰。真皮弹性纤维稀少，由与许多微纤维相关的薄的无定形弹性蛋白链组成。在主动脉中，胶原量正常，尽管纤维的直径范围比正常更宽，平均直径略小。弹性纤维显示出相当大的破坏，看起来破碎且比正常更宽，并呈现不规则轮廓。在组织固定过程中加入阳离子染料导致弹性纤维内出现大量电子致密沉淀物，表明其中存在糖胺聚糖或蛋白聚糖，免疫电子显微镜显示未硫酸化和硫酸化的软骨素在其中占主导地位。硫酸乙酰肝素是正常弹性纤维的组成成分，其含量大大减少。还发现弹性蛋白与主动脉壁可溶性基质中的糖胺聚糖有关。
