Massi D, Martinelli F, Battini M L, Comin C E, Franchi A, Gioia O, Santucci M
Dipartimento di Patologia Umana ed Oncologia, Università di Firenze, Italy.
J Eur Acad Dermatol Venereol. 2000 Mar;14(2):127-30. doi: 10.1046/j.1468-3083.2000.00030.x.
We report on a 14-year-old boy who presented with a 4-year history of acral pains and febrile episodes. On physical examination, numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region. Renal function was within normal limits. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. Histopathological examination of one of the cutaneous papules showed several dilated blood vessels in the superficial dermis surrounded by collarettes of thickened rete ridges, consistent with a diagnosis of angiokeratoma. The electron-microscopic study of a skin specimen demonstrated the presence of dilated lysosomes with deposition of electron-dense bodies, some of which with laminated structure, in endothelial cells and fibroblasts. These findings were regarded as indicative of Fabry's disease. Subsequent biochemical analysis confirmed the presence of a alpha-galactosidase A deficiency in leukocytes. In conclusion, we described the clinical, histopathological and submicroscopic findings of a case of Fabry's disease, in which the combination of electron microscopic and biochemical approaches allowed the correct diagnosis.
我们报告了一名14岁男孩，他有4年的肢端疼痛和发热病史。体格检查发现，其腹部有许多小红丘疹，主要位于脐周区域。肾功能正常。眼科检查发现角膜有涡状混浊（角膜涡状变性）以及结膜血管扩张迂曲。对其中一个皮肤丘疹进行组织病理学检查，显示真皮浅层有几条扩张的血管，周围有增厚的 rete 嵴形成的衣领样结构，符合血管角皮瘤的诊断。对皮肤标本进行电子显微镜研究显示，内皮细胞和成纤维细胞中有扩张的溶酶体，伴有电子致密体沉积，其中一些具有层状结构。这些发现被认为是法布里病的指征。随后的生化分析证实白细胞中存在α-半乳糖苷酶A缺乏。总之，我们描述了一例法布里病的临床、组织病理学和亚微观发现，其中电子显微镜和生化方法相结合得以做出正确诊断。
