Ross R, Fialkow P J, Altman L K
Clin Genet. 1978 Feb;13(2):213-23. doi: 10.1111/j.1399-0004.1978.tb04252.x.
Examination by electron microscopy of the elastic fibers of individuals with Pseudoxanthoma Elasticum (PXE) revealed that the principal alterations were in the elastin moiety of the elastic fibers. The elastin had a granular appearance, an increased affinity for cationic stains, and it often demonstrated sites of increased density presumed to represent foci of calcification. In contrast to the elastin, the microfibrillar component of the elastic fibers was unchanged, both in morphologic appearance and in distribution. There was no clear correlation between the extent of the morphologic alteration in the elastic fiber and the level of clinical severity. Morphologically altered fibers were often found together with unaltered fibers. Changes similar to those seen in patients with PXE were also found in biopsies obtained from clinically unaffected consanguinous relatives. The pattern of inheritance in several of the families examined was compatible with autosomal recessive, whereas in at least one family a more complex mode of transmission seems likely. The electron microscopic data therefore provide further support for the genetic heterogeneity of PXE.
对弹性假黄瘤（PXE）患者的弹性纤维进行电子显微镜检查发现，主要变化发生在弹性纤维的弹性蛋白部分。弹性蛋白呈现颗粒状外观，对阳离子染料的亲和力增加，并且常常显示出密度增加的部位，推测代表钙化灶。与弹性蛋白相反，弹性纤维的微原纤维成分在形态外观和分布上均未改变。弹性纤维形态改变的程度与临床严重程度之间没有明显的相关性。形态改变的纤维常常与未改变的纤维一起出现。在从临床未受影响的近亲亲属获取的活检组织中也发现了与PXE患者中所见相似的变化。在几个被检查的家族中，遗传模式符合常染色体隐性遗传，而在至少一个家族中，似乎可能存在更复杂的遗传方式。因此，电子显微镜数据为PXE的遗传异质性提供了进一步的支持。
