Breier F, Hobisch G, Fang-Kircher S, Braun F, Paschke E, Jurecka W
Department of Dermatology/Division of General Dermatology, University of Vienna, Austria.
Am J Dermatopathol. 1995 Aug;17(4):379-83. doi: 10.1097/00000372-199508000-00013.
Fucosidosis is an autosomal recessive inborn error of metabolism in which fucose-containing glycolipids, glycoproteins, and oligo- and polysaccharides accumulate in tissues as a consequence of alpha-L-fucosidase deficiency. Since the detection of this entity in 1966 several cases have been described, but until now investigations of clinically uninvolved skin have not been performed. In this study we have investigated clinically normal skin obtained from a patient with fucosidosis and his healthy sister, by light and electron microscopy, to determine whether normal skin in this condition yields clues that may have prognostic relevance. We found "empty"- appearing storage vesicles in melanocytes, endothelial cells, sweat glands, and fibroblasts in the skin.
岩藻糖苷贮积症是一种常染色体隐性遗传性先天性代谢缺陷病，由于α-L-岩藻糖苷酶缺乏，含岩藻糖的糖脂、糖蛋白以及寡糖和多糖在组织中蓄积。自1966年发现该病症以来，已有多例病例被报道，但迄今为止尚未对临床未受累的皮肤进行过研究。在本研究中，我们通过光学显微镜和电子显微镜对一名岩藻糖苷贮积症患者及其健康妹妹的临床正常皮肤进行了研究，以确定在此种情况下正常皮肤是否能提供具有预后相关性的线索。我们在皮肤的黑素细胞、内皮细胞、汗腺和成纤维细胞中发现了呈现“空泡”状的储存小泡。
