Venencie P Y, Pauwels C, Malherbe V, Perie G, Landrieu P
Unité de Dermatologie, Centre Hospitalier Général, Saint-Germain en Laye.
Ann Dermatol Venereol. 1995;122(6-7):432-5.
Angiokeratoma can lead to diagnoses other than Fabry's disease. We report a case of angiokeratoma in a child with fucosidosis.
A 7-year-old child with psychomotor retardation presented angiokeratoma located on the penis. Uptake of type I Ulex Europaeus Agglutinin antilectin antiserum was intense in the endothelial structure. This antibody is specific for alpha-L-fucose residues which were thus found in large quantities in the vacuoles of the ultrastructure. The patient also had a major deficiency in leukocyte, serum and fibroblast alpha-fucosidase.
This is a typical case of fucosidosis, a rare hereditary disease with autosomal recessive transmission due to generalized deficiency in alpha-L-fucosidase. Diffuse angiokeratosis should suggest, other than Fabry's disease, fucosidase and other enzyme deficiencies including sialidase, GM1 gangliosidase as well as Kanzaki's disease.
血管角质瘤可能导致除法布里病之外的其他诊断。我们报告一例患有岩藻糖苷贮积症的儿童血管角质瘤病例。
一名患有精神运动发育迟缓的7岁儿童阴茎上出现血管角质瘤。I型荆豆凝集素抗 lectin 抗血清在内皮结构中有强烈摄取。该抗体对α-L-岩藻糖残基具有特异性，因此在超微结构的液泡中大量发现。患者在白细胞、血清和成纤维细胞α-岩藻糖苷酶方面也存在严重缺陷。
这是一例典型的岩藻糖苷贮积症病例，这是一种罕见的常染色体隐性遗传疾病，由于α-L-岩藻糖苷酶普遍缺乏所致。除法布里病外，弥漫性血管角质瘤还应提示岩藻糖苷酶及其他酶缺乏，包括唾液酸酶、GM1神经节苷脂酶以及神崎病。
