Sevenich M, Schultz-Ehrenburg U, Orfanos C E
Arch Dermatol Res. 1980;267(3):237-51. doi: 10.1007/BF00403845.
Five patients with Ehlers-Danlos syndrome (EDS) were classified according to clinical and genetic criteria and were examined by electron microscopy: two cases in Type I and one case each in Types II, III, and V were found. In all cases distinct ultrastructural changes were seen in the fibroblasts and the collagen fibrils whereas the elastic fibers were normal, as shown with special staining techniques. a) The fibroblasts were smaller, their cytoplasmic processes reduced in number and size, the endoplasmic reticulum was underdeveloped and their ribosome content was diminished. Also, cellular degeneration up to necrosis was found. In three cases intercellular substances were seen, possibly indicating a prefibrillar secretion product of the fibroblasts. b) The collagen fibrils revealed a defective lateral aggregation with disturbances of their thickness growth. Characteristic are abnormal fibrils with star-shaped cross profiles and marginal serrations in longitudinal sections. Their periodicity, however, remained normal. In three cases (Types I, I, and V) scattered giant fibrils were also present. Generally, the bundling of collagen fibrils into fibers seemed to be loosened. These findings were common to all various types of EDS. Therefore, a classification was not possible according to criteria of electron microscopy. Ehlers-Danlos syndrome is a disease of fibroblasts leading to changes of dermal collagen.
根据临床和遗传学标准对5例埃勒斯-当洛综合征（EDS）患者进行了分类，并通过电子显微镜进行了检查：发现Ⅰ型2例，Ⅱ型、Ⅲ型和Ⅴ型各1例。在所有病例中，成纤维细胞和胶原纤维均出现明显的超微结构变化，而弹性纤维正常，特殊染色技术显示了这一点。a）成纤维细胞较小，其细胞质突起的数量和大小减少，内质网发育不全，核糖体含量减少。此外，还发现了直至坏死的细胞变性。在3例中可见细胞间物质，这可能表明是成纤维细胞的原纤维前分泌产物。b）胶原纤维显示出横向聚集缺陷，其厚度生长受到干扰。其特征是具有星形横截面和纵向切片边缘锯齿的异常纤维。然而，它们的周期性仍然正常。在3例（Ⅰ型、Ⅰ型和Ⅴ型）中还存在散在的巨大纤维。一般来说，胶原纤维束形成纤维的过程似乎变得松散。这些发现是所有不同类型EDS所共有的。因此，根据电子显微镜标准无法进行分类。埃勒斯-当洛综合征是一种成纤维细胞疾病，可导致真皮胶原的变化。
