Yokota M, Koji M, Yotsumoto S
Department of Dermatology, Nagoya City University Medical School, Japan.
J Dermatol. 1995 Jan;22(1):10-8. doi: 10.1111/j.1346-8138.1995.tb03333.x.
A novel metabolic disease, angiokeratoma corporis diffusum (Kanzaki), was the subject of an extensive histopathologic and ultrastructural study. Findings included dilated lymph and blood vessels in the upper dermis with an orthokeratortic, thickened, horny layer in well developed angiokeratoma. In the early papules, a few sporadic dyskeratotic keratinocytes were present in the epidermis with or without a thickened horny layer. Vesicular clear vacuolation was clearly observed in the cytoplasm of the secretory portion of the eccrine sweat glands, but none was observed in the vascular endothelial cells with hematoxylin-eosin staining. Using electron microscopy, lysosomal vacuolation was observed in many cell types, including eccrine sweat gland cells, vascular endothelial cells, dermal fibroblasts, dermal neural cells, lymphocytes of peripheral blood in the skin, and glomerular endothelial cells, but none was noted in the epithelial cells of the kidney. Widely dilated vacuoles were found to contain only a small amount of fuzzy filamentous material in the vascular endothelial cells, filamentous or electron-dense granular substances in fibroblasts, and electron-dense, lamellated or homogeneous structures in eccrine sweat gland cells and in neural cells. Ultracytochemical examination revealed glycoconjugates in dilated lysosomes. Characteristics of Kanzaki Disease were shown to differ from those of Fabry disease or any other lysosomal storage disease.
一种新型代谢性疾病——弥漫性躯体血管角皮瘤（神崎病），是一项广泛的组织病理学和超微结构研究的对象。研究结果包括：在发育良好的血管角皮瘤中，真皮上层的淋巴管和血管扩张，角质层呈正角化、增厚；在早期丘疹中，表皮存在一些散在的角化不良角质形成细胞，角质层增厚或未增厚。苏木精-伊红染色显示，在小汗腺分泌部的细胞质中可清晰观察到水泡状透明空泡化，但血管内皮细胞中未观察到。使用电子显微镜观察发现，许多细胞类型中存在溶酶体空泡化，包括小汗腺细胞、血管内皮细胞、真皮成纤维细胞、真皮神经细胞、皮肤外周血淋巴细胞和肾小球内皮细胞，但肾上皮细胞中未观察到。发现血管内皮细胞中广泛扩张的空泡仅含有少量模糊的丝状物质，成纤维细胞中有丝状或电子致密颗粒物质，小汗腺细胞和神经细胞中有电子致密、层状或均匀结构。超细胞化学检查显示扩张的溶酶体中有糖缀合物。结果表明，神崎病的特征不同于法布里病或任何其他溶酶体贮积病。
