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一名遗传性多发性骨软骨瘤患者的双侧肩胛胸壁骨软骨瘤:病例报告及文献复习

Bilateral Scapulothoracic Osteochondromas in a Patient With Hereditary Multiple Exostosis: A Case Report and Review of the Literature.

作者信息

Rupp Markus, Hardes Jendrik, Raschke Michael J, Skwara Adrian

机构信息

Department of Trauma-, Hand- and Reconstructive Surgery, University Hospital Giessen and Harburg, Campus Giessen; Department of Trauma-, Hand- and Reconstructive Surgery, Muenster University Hospital.

Clinic for General Orthopedics and Tumor Orthopedics, Muenster University Hospital.

出版信息

Orthop Rev (Pavia). 2016 Sep 19;8(3):6501. doi: 10.4081/or.2016.6501.

Abstract

Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by two or more benign growing, cartilage capped tumors of long bones called osteochondromas. If abnormal growth and clinical symptoms of osteochondromas newly appear in adults, malignant transformation of the usually benign growing tumors should be suspected and diagnostic testing should be initiated. Against the background of hypothesized higher malignant transformation of osteochondromas into chondrosarcoma in individuals with shoulder exostoses, we report a case of bilateral scapulothoracic osteochondromas in a patient suffering from HME. A 60-year-old female with HME complained of chest pain while being hospitalized for bilateral femoral fractures. A computed tomography scan of the chest was performed to rule out pulmonary embolism. However, bilateral osteochondromas in the scapulothoracic spaces were detected. Due to absence of radiographic evidences for malignant transformation in the patient, invasive diagnostic procedures such as biopsy and histological examination were recommended in order to exclude malignant transformation of both osteochondromas. Physicians should be aware that patients with HME who present with shoulder pain should be examined for osteochondromas in the scapulothoracic space. Due to possible sarcomatous transformation, regular follow-ups are necessary for adolescents and adults.

摘要

遗传性多发性骨软骨瘤(HME)是一种常染色体显性疾病,其特征是长骨上有两个或更多良性生长的、带有软骨帽的肿瘤,称为骨软骨瘤。如果骨软骨瘤的异常生长和临床症状在成年人中 newly appear(此处原文有误,推测可能是“新出现”,但原词拼写错误),应怀疑通常良性生长的肿瘤发生了恶性转化,并应开始进行诊断测试。在假设肩胛部外生骨疣患者的骨软骨瘤向软骨肉瘤恶性转化可能性更高的背景下,我们报告了一例患有HME的患者双侧肩胛胸壁骨软骨瘤的病例。一名60岁患有HME的女性因双侧股骨骨折住院时抱怨胸痛。进行了胸部计算机断层扫描以排除肺栓塞。然而,在肩胛胸壁间隙发现了双侧骨软骨瘤。由于该患者没有恶性转化的影像学证据,建议进行活检和组织学检查等侵入性诊断程序,以排除两个骨软骨瘤的恶性转化。医生应意识到,出现肩部疼痛的HME患者应检查肩胛胸壁间隙是否有骨软骨瘤。由于可能发生肉瘤样转化,青少年和成年人需要定期随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1602/5066108/e87a87886898/or-2016-3-6501-g001.jpg

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