Sansón-RíoFrío J A, Santiesteban Navarro, Bahena R I, Villavicencio V V, Martínez-Said H, Padilla R A, Cuellar H M
Instituto Nacional de Cancerología, México.
Acta Ortop Mex. 2009 Nov-Dec;23(6):376-82.
Enchondromatoses include a heterogeneous group of congenital syndromes characterized by the presence of multiple enchondromas associated with musculo-skeletal malformations secondary to limb shortening, scoliosis, pathological fractures and pseudoarthrosis. The main complication of enchondromas is their malignant transformation to secondary chondrosarcomas, which may occur in up to 25% of cases. The multiple enchondromatosis syndromes have many clinical similarities and the differential diagnosis is therefore difficult to make. We present the clinical case of a 38-year-old patient with a diagnosis of multiple familial enchondromatosis who developed a pelvic chondrosarcoma that was treated with external hemipelvectomy. We reviewed the literature concerning the specific aspects of Mafucci, Oilier and multiple familial enchondromatosis syndromes.
内生软骨瘤病包括一组异质性的先天性综合征，其特征是存在多个内生软骨瘤，并伴有肢体缩短、脊柱侧弯、病理性骨折和假关节等继发的肌肉骨骼畸形。内生软骨瘤的主要并发症是恶变为继发性软骨肉瘤，发生率可达25%。多种内生软骨瘤病综合征有许多临床相似之处，因此鉴别诊断很难。我们报告了一例38岁诊断为多发性家族性内生软骨瘤病的患者，其发生了盆腔软骨肉瘤，接受了半骨盆切除术治疗。我们回顾了有关马富西综合征、奥利尔综合征和多发性家族性内生软骨瘤病综合征具体方面的文献。
