Maffucci综合征1 例报道并文献复习

目的:探讨Maffucci综合征的生物学行为、临床病理特点、诊断治疗方法及其预后。方法:对1例Maffucci综合征的临床资料、病理学形态、影像学资料进行回顾性分析，并结合国内外文献进行分析。结果:患者为25岁男性，因“发现右足及双手多发肿物17年”就诊。5岁时曾因右侧股骨远端内生软骨瘤行矫形手术治疗。专科检查示:右下肢短缩畸形，跛行，右膝、踝关节周围局部隆起，无压痛，关节活动功能受限，双手部及足部均散在分布数十个蓝紫色肿物，大小不等，压之不褪色，X线检查提示:双手部、右足部可见多发软组织肿块影，右股骨、胫腓骨骨质结构紊乱，髓腔内骨小梁正常结构消失，骨干弯曲变形，局部可见膨大，右膝关节面欠光整，关节间隙不等宽。右踝关节前方可见一团块状高密度影，边缘钙化。根据患者要求行双手部肿物切除术，术后病理报告为:（双手部血管瘤）符合血管瘤伴血栓形成，纤维化及钙化。随访半年未见复发及新发肿物。结论:Maffucci综合征是一种以多发内生软骨瘤并发软组织血管瘤为特点的非遗传性疾病。该病是否由于基因缺陷引起尚未明确，常常在早期发生恶变，以软骨肉瘤恶变为主。Maffucci综合征也常伴发其它恶性肿瘤。影像学及病理组织学检查在诊断Maffucci综合征及其恶变中起关键作用。该病治疗目的为缓解疼痛和早期发现恶变，手术切除为主要治疗手段。

Maffucci' s syndrome:A case report and literature review

Objective:To investigate the biological behavior，clinicopathological characteristics，treatment and prognosis of Maffucci syndrome.Methods:The clinical data，pathological morphology and imaging data of a case of Maffucci syndrome were reported and analyzed in combination with the literature at home and abroad．Results:The patient was a 25-year-old man who admitted for finding multiple masses in his right foot and hands for 17 years.At 5 years old，he had orthopedic surgery for endogenous chondroma in the right distal femur.Physical examination showed shortening and deformity of the right lower limb，limp，local bulge around the right knee and ankle，no tenderness，and limited joint mobility.Dozens of purple masses were scattered on both hands and right foot，ranging in size，and would not fade when pressed.Radiological examination showed multiple soft tissue masses can be seen in the hands and right foot，the bone structure of the right femur，tibia and fibula was disordered.The normal structure of the bone trabecula in the medullary cavity disappeared.The backbone was bent and deformed，and the right knee joint space was narrowed.A mass of high-density shadow can be seen in front of the right ankle joint，and the edge was calcified.Multiple mass in the hands were resected and postoperative pathology report was cavernous hemangioma.No recurrence or new mass was seen during the follow-up for six months.Conclusion:Maffucci syndrome is a non-hereditary disease characterized by multiple endogenous chondroma and soft tissue hemangioma.Whether the disease was caused by a genetic defect was unclear，and it was always transited into malignancy at early stage.Many other malignancies are associated with Maffucci syndrome.Radiological and pathological examination play a crucial role in the diagnosis of Maffucci syndrome and its malignant transformation.The treatment is to relieve pain and detect malignant degeneration at early stage.Surgery remains the only therapeutic option.