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[多发性家族性骨软骨瘤病:1例报告]

[Multiple familial osteochondromatosis: presentation of a case].

作者信息

García-Lamazares M, Someso-Orosa E, Zamora-Casal A, Rodríguez-Moldes E

机构信息

Unidad de Atención Primaria Os Mallos, Servicio Galego de Saúde, A Coruña, España.

出版信息

Semergen. 2013 Apr;39(3):171-4. doi: 10.1016/j.semerg.2011.11.009. Epub 2012 Feb 3.

DOI:10.1016/j.semerg.2011.11.009
PMID:23540993
Abstract

Enchondromas are benign cartilage tumours that grow slowly in the bone metaphysis. They may involve solitary or multiple lesions. Enchondromatoses include a heterogeneous group of hardly distinguishable syndromes characterised by the presence of multiple enchondromas that may cause musculoskeletal malformations (secondary to limb shortening), scoliosis, pathological fractures, or pseudoarthrosis. The most dreaded complication, osteochondrosarcoma, occurs in up to 25% of patients. We present the case of a 67-year-old male with no previous diagnosis, requiring attention due to the appearance of a painful tumour in his left hip which degenerated rapidly over the past year. Family history and clinical-radiological data confirmed the diagnosis of Multiple Familial Osteochondromatosis. Although clinical evolution and imaging led to suspect a malignant degeneration (osteochondrosarcoma), this was not confirmed by the histopathological study of the surgical sample.

摘要

内生软骨瘤是一种在骨干部缓慢生长的良性软骨肿瘤。它们可能是单发或多发病变。内生软骨瘤病是一组难以区分的综合征,其特征是存在多个内生软骨瘤,这些内生软骨瘤可能导致肌肉骨骼畸形(继发于肢体缩短)、脊柱侧弯、病理性骨折或假关节。最可怕的并发症是骨肉瘤,高达25%的患者会发生。我们报告一例67岁男性患者,此前未被诊断出疾病,因左髋部出现疼痛性肿瘤且在过去一年中迅速恶化而引起关注。家族史和临床放射学数据证实了多发性家族性骨软骨瘤病的诊断。尽管临床病程和影像学检查怀疑有恶性变(骨肉瘤),但手术标本的组织病理学研究并未证实这一点。

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