具有黏多糖贮积症特征的弥漫性躯体血管角质瘤

McCallum D I, Macadam R F, Johnston A W

J Med Genet. 1980 Feb;17(1):21-6. doi: 10.1136/jmg.17.1.21.

Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.

对两例患有智力发育迟缓且具有黏多糖贮积症某些特征的弥漫性躯体血管角化瘤病例进行了生化、组织病理学及电子显微镜检查。基于这些证据，认为它们是一种迄今未被描述的溶酶体酶缺乏症的实例。