Kanan M W, Francis M J, Sykes B, Reed W B, Ryan T J, Van Diest P, Marsden A
Br J Dermatol. 1977 May;96(5):521-31. doi: 10.1111/j.1365-2133.1977.tb07156.x.
Fibroblasts of skin explants from three normal men and six patients with recessive epidermolysis bullosa dystrophica (EBD-R) were cultured in Dulbecco's medium, grown to confluence, sectioned and studied with the electron microscope. The normal control fibroblasts from the 6th to 13th passage (secretory phase) showed irregular or lobed nuclei with centrally scattered chromatin. They also had prominent RER, Golgi complexes, variously shaped mitochondria and cytoskeletal microfibrils. Their peripheral cytoplasm exhibited many vacuoles and a small number of these were autophagic lysosomes. In addition to the ultrastructural features described in the control fibroblasts, the EBD-R cells from the 6th passage contained remarkable numbers of strongly electron dense lysosomal bodies through their entire cytoplasm with very few empty vacuoles. It is speculated that the accumulation of these lysosomes may be connected with a primary metabolic cellular defect in the dermal fibroblasts of patients with EBD-R akin to that described in mucopolysaccharide storage diseases.
取自三名正常男性和六名隐性营养不良型大疱性表皮松解症（EBD-R）患者的皮肤外植体的成纤维细胞，在杜尔贝科培养基中培养，生长至汇合，切片并用电子显微镜进行研究。来自第6至13代（分泌期）的正常对照成纤维细胞显示细胞核不规则或呈叶状，染色质集中在中央。它们还具有明显的粗面内质网、高尔基体、各种形状的线粒体和细胞骨架微原纤维。它们的周边细胞质有许多空泡，其中少数是空泡化的自噬溶酶体。除了对照成纤维细胞中描述的超微结构特征外，第6代的EBD-R细胞在整个细胞质中含有大量电子密度很高的溶酶体小体，几乎没有空泡。据推测，这些溶酶体的积累可能与EBD-R患者真皮成纤维细胞中的原发性细胞代谢缺陷有关，类似于黏多糖贮积病中描述的情况。
