The Diagnosis of Mucopolysaccharidoses by Electron Microscopy of Skin Biopsies
The Diagnosis of Mucopolysaccharidoses by Electron Microscopy of Skin Biopsies
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通过皮肤活检的电子显微镜诊断粘多糖症
DOI：
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发表时间：
1975
影响因子：
1.7
通讯作者：
D. Fontan
中科院分区：
文献类型：
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作者：
P. Bioulac;M. Meucier;C. Beylot;D. Fontan
对六名患有粘多糖贮积症 I（MPSI 或 Hurler 病）和 MPS II（亨特病）的儿童的皮肤进行了超微结构检查。观察到细胞内粘多糖和脂质。真皮细胞，即成纤维细胞、巨噬细胞，充满了被认为是溶酶体来源的多个空泡包涵体。它们要么没有内容物，要么充满颗粒状、模糊和/或假髓鞘结构。在 Sebwann 细胞、平滑肌细胞和角质形成细胞中观察到相同的异常。 Mast cells showed peculiar “worm‐like” inclusions apart from their normal granulations.
An ultrastructural examination was carried out on the skin of six children suffering from Mucopolysaccharidosis I (MPSI or Hurler's disease) and MPS II (Hunter's disease). Both intracellular mucopolysaccharides and lipids were observed. The dermal cells, i.e. fibroblasts, macrophages, were loaded with multiple vacuolar inclusions thought to be of lysosomal origin. They appeared either content‐free or filled with granular, fuzzy and/or pseudomyelinic structures. Identical abnormalities were observed within the Sebwann cells, smooth muscle cells and keratinocytes. Mast cells showed peculiar “worm‐like” inclusions apart from their normal granulations.