Maffucci’s综合征临床及病理分析

A analysis on clinical pathology characteristic of Maffucci's syndrome

目的分析Maffucci’s综合征的临床病理特点,提高对该疾病的认识。方法对1例Maffucci’s综合征病例特点进行分析,并复习国内52例文献,分析其临床病理特点。结果该病发病率低,与性别无关,慢性起病,多见于青春期,无家族史;四肢皮下多发性血管瘤往往为其首发症状,骨软骨瘤好发于四肢长骨的干骺端,呈多发性,伴有关节肿胀、畸形及静脉石,恶变4例。X线示多发囊状膨胀性骨质破坏,病理表现为分化良好的肿瘤性软骨细胞及软骨基质组成。结论 Maffucci综合征是一种多发性内生性软骨瘤病伴有软组织血管瘤的慢性非遗传性疾病,罕见恶变。病变部位以四肢长骨为主,X线和病理检查是其有效的诊断手段,无特殊治疗方法,与胚胎时期软骨发育障碍有关,具体机制至今不清。

Objective To analyse the clinical pathology characteristic of Maffucci＇ s syndrome, in order to impro- ving the understanding of this disease. Methods One case of Maffucci＇ s syndrome was reported, and the clinical pathology characteristics of 52 cases which were published in internal magazines were analyzed. Results The dis- ease incidence was low, and it wasn＇t associated with gender. The age of onset was most in adolescence period in a chronic way, without family history. First onset symptom was hemangiomatosis under the subcutaneous of four limbs. The multiple osteochondroma occurred in long bone metaphysis of four limbs, accompanied by joint swelling, de- formity and phlebolith. X-ray showed that bone was destructed in multiple and cystic form and expandability. Pathol- ogy showed that it was compounded by well-differentiated tuberculiform chondrocyte and mesochondrium. Con- clusions Maffucci＇ s syndrome is a nonhereditary chronic multiple enchondromatosis diseases, accompanied with soft tissues hemangioma, which is rare canceration. The diseased region is most in long bone of four limbs. The ef- fective diagnosis method is X-ray and pathology, and it hasn＇ t any special therapeutic methods. The mechanism may be associated with abnormal cartilage formation in embryo period, but exact mechanism of this disease is still unclear.