Kelly Brent, Kelly Erica
Department of Dermatology, University of Texas Medical Branch at Galveston, USA.
Arch Dermatol. 2006 May;142(5):615-8. doi: 10.1001/archderm.142.5.615.
Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations.
We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency. A review of the literature revealed few similar cases.
Angiokeratoma corporis diffusum without recognizable enzyme deficiencies appears to be a distinct clinical entity with a benign course.
弥漫性躯体血管角皮瘤是血管角皮瘤的一种临床变体，通常与糖蛋白代谢中的酶缺乏有关，最显著的是法布里病，还会导致许多其他全身表现。
我们报告一例弥漫性躯体血管角皮瘤患者，其未发现有可识别的酶缺乏。文献回顾显示类似病例很少见。
无明显酶缺乏的弥漫性躯体血管角皮瘤似乎是一种具有良性病程的独特临床实体。
