Hermanns-Lê Trinh, Piérard Gérald E
Department of Dermatopathology, University Hospital of Liège, Liège, Belgium.
Am J Dermatopathol. 2007 Oct;29(5):449-51. doi: 10.1097/DAD.0b013e318156d783.
Type I collagen arginine-to-cysteine (R-to-C) substitutions were found in three middle-aged adults suffering from spontaneous dissection of medium-size arteries. This disorder enters the heterogeneous spectrum of the Ehlers-Danlos syndrome (EDS). Despite similar genetic mutation and arterial alterations, two distinct clinical presentations were identified showing signs of either the EDS classic type or premature osteopenia alone. Ultrastructural changes were found in the dermal collagen fibrils, elastic fibers, and proteoglycan components. The cross-section of most collagen fibrils was rounded, but with diverse diameters. Flower-like outlines of collagen fibrils were rarely disclosed. Large hyaluronic acid globules pushed apart the collagen bundles in the case with EDS classic-type presentation. Elastic fibers contained unusual annular microcalcifications. In conclusion, ultrastructural changes were found in diverse connective-tissue components despite the fact that the mutations were found to be specific for the collagen molecules. In addition, two distinct clinical presentations were found and were correlated with peculiar ultrastructural alterations.
在三名患有中等大小动脉自发性夹层的中年成年人中发现了I型胶原蛋白精氨酸到半胱氨酸（R-to-C）的替换。这种疾病属于埃勒斯-当洛综合征（EDS）的异质性谱系。尽管存在相似的基因突变和动脉改变，但仍发现了两种不同的临床表现，分别显示出EDS经典型或仅过早骨质减少的迹象。在真皮胶原纤维、弹性纤维和蛋白聚糖成分中发现了超微结构变化。大多数胶原纤维的横截面呈圆形，但直径各异。很少发现胶原纤维呈花状轮廓。在EDS经典型表现的病例中，大的透明质酸球将胶原束推开。弹性纤维含有异常的环状微钙化。总之，尽管发现这些突变是胶原分子特有的，但在不同的结缔组织成分中发现了超微结构变化。此外，还发现了两种不同的临床表现，并与特殊的超微结构改变相关。
