报告组织病理学,电子显微镜,和从radial纵向缺陷(RLD)患者获得的组织样本的免疫组织化学结果,并研究软组织异常作为RLD畸形的次要驱动因素的贡献。
手术时(放射化或集中化),从14例16条四肢受Bayne3型和4型RLD影响的患者中获得了radial侧肌肉和肌腱的标本。使用光学显微镜对样品进行评估,电子显微镜,和免疫组织化学检查。
在16个冷冻肌肉样本中,6(37%)显示正常肌肉,而10人(63%)显示存在萎缩性纤维。正常肌肉6例,纤维型分布未见异常。六名患者表现出1型肌纤维的优势。没有一个标本有肌成纤维细胞;16个标本中有4个有肥大细胞,16个标本中有9个显示存在血小板衍生生长因子阳性细胞。肌成纤维细胞的特征(基底层的存在,细胞间连接,或血小板囊泡)在电子显微镜上未在任何标本中发现。
组织病理学,电子显微镜,和免疫组织化学结果,特别是肌成纤维细胞的缺失,在从RLD患者获得的组织样本中,不支持软组织异常作为RLD畸形的次要驱动因素的假设。
这项研究为软组织在RLD畸形发展中的可能作用提供了初步见解。
To report the histopathological, electron microscopic, and immunohistochemical findings of tissue samples obtained from patients with radial longitudinal deficiency (RLD) and investigate the contribution of abnormality in soft tissues as a secondary driver of deformity in RLD.
Specimens from radial-sided muscles and tendons were obtained at the time of surgery (either radialization or centralization) from 14 patients with 16 limbs affected with Bayne type 3 and type 4 RLD. The specimens were evaluated using light microscopy, electron microscopy, and immunohistochemical examination.
Among the 16 frozen muscle specimens, 6 (37%) showed normal muscle, while 10 (63%) showed the presence of atrophic fibers. The 6 cases with normal muscle showed no abnormality in fiber type distribution. Six patients showed predominance of type 1 muscle fibers. None of the specimens had myofibroblasts; 4 of 16 specimens had mast cells, and 9 of 16 specimens showed the presence of platelet derived growth factor-positive cells. Features of myofibroblasts (the presence of basal lamina, intercellular junctions, or pinocytic vesicles) were not identified in any specimen on electron microscopy.
The histopathological, electron microscopic, and immunohistochemical findings, in particular the absence of myofibroblasts, in tissue samples obtained from patients with RLD, do not support the assumption of abnormality in soft tissues as a secondary driver of deformity in RLD.
This study provides a preliminary insight into a possible role of soft tissues in the development of the deformity in RLD.