Frank J, Jansen-Genzel W, Lentner A, Wienert V
Abteilung Dermatologische Phlebologie, Rheinisch-Westfälischen Technischen Hochschule, Aachen.
Hautarzt. 1996 Oct;47(10):776-9. doi: 10.1007/s001050050508.
Fabry's disease (Angiokeratoma corporis diffusum) is a rare X-chromosome linked recessive disorder belonging to the group of sphingolipoidoses. The basic defect involves the gene encoding alpha-galactosidase. Because this enzyme is responsible for decomposition of glycosphingolipids, its deficiency results in their accumulation in endothelial and smooth muscle cells. With time, generalized angiokeratomas, paresthesias, renal and cardiac insufficiency and cerebrovascular complications develop. We report a patient who in addition to the well-described findings also showed unique nail fold capillary changes not described so far. Analysis of serum concentration of alpha-galactosidase identified three female heterozygous carriers in the patient's family.
法布里病（弥漫性躯体血管角质瘤）是一种罕见的X染色体连锁隐性疾病，属于鞘脂贮积症。基本缺陷涉及编码α-半乳糖苷酶的基因。由于这种酶负责糖鞘脂的分解，其缺乏会导致它们在内皮细胞和平滑肌细胞中蓄积。随着时间的推移，会出现全身性血管角质瘤、感觉异常、肾和心脏功能不全以及脑血管并发症。我们报告了一名患者，除了已详细描述的表现外，还出现了迄今为止未描述过的独特甲襞毛细血管变化。对α-半乳糖苷酶血清浓度的分析在患者家族中确定了三名女性杂合子携带者。
