Voglino A, Paradisi M, Dompé G, Onetti Muda A, Faraggiana T
Immacolata Dermatology Institute, Polyclinic Umberto I, Rome, Italy.
Am J Dermatopathol. 1988 Aug;10(4):343-8. doi: 10.1097/00000372-198808000-00010.
A case of clinically apparent angiokeratoma corporis diffusum (Fabry's disease) in an adult female carrier is presented. The patient had biochemical evidence of the disease, and showed multiple cutaneous lesions, in the absence of other major organ involvement. Ultrastructural examination of tissue fragments obtained by skin biopsies demonstrated the presence of a few typical electron-dense lamellar structures in endothelial cells, but not in smooth muscle cells. Electron microscopy proved to be the only effective way of detecting the intracytoplasmic inclusions, since light-microscopic histochemistry failed to reveal small amounts of the stored glycolipid. The exclusive involvement of endothelial cells suggests that they are more prone to store glycolipid than are all other types of cells usually involved in the disease. The abundance of intermediate filaments in the cytoplasm of endothelial cells is related exclusively to the high blood pressure in angiomatous arteriovenous shunts.
本文报告一例成年女性携带者临床明显的弥漫性躯体血管角质瘤（法布里病）。该患者有该病的生化证据，且出现多处皮肤病变，无其他主要器官受累。对皮肤活检获取的组织碎片进行超微结构检查显示，内皮细胞中有一些典型的电子致密层状结构，而平滑肌细胞中没有。电镜检查被证明是检测胞质内包涵体的唯一有效方法，因为光镜组织化学未能揭示少量储存的糖脂。内皮细胞的唯一受累表明，与通常参与该病的所有其他类型细胞相比，它们更易于储存糖脂。内皮细胞胞质中丰富的中间丝仅与血管瘤性动静脉分流中的高血压有关。
