肢骨纹状肥大3例报道并文献复习  

Melorheostosis:report of 3 cases and review of literature

作　　者：岳华[1] 章振林[1] 

机构地区：[1]上海交通大学附属第六人民医院骨质疏松和骨病专科骨代谢病和遗传研究室,上海200233

出　　处：《诊断学理论与实践》2012年第1期38-41,共4页Journal of Diagnostics Concepts & Practice

基　　金：国家自然科学基金(81170803;81070692;81000360;30800387);上海市科委青年科技启明星计划(11QA1404900);上海市自然科学基金(11ZR1427300);上海市卫生局优秀学科带头人计划(XBR2011014)

摘　　要：目的:探讨3例散发的肢骨纹状肥大患者的临床特征、影像学表现及其诊断和鉴别诊断。方法:3例肢骨纹状肥大患者,分别为11岁男性、22岁女性和32岁男性,均来自非近亲婚配家庭。对其进行血液分析和影像学检查,并复习相关文献。结果:3例患者的血液化验均未见异常,影像学检查于骨皮质、骨膜下可见不规则长条状或斑片状致密影,2例患者的病灶多发且为非对称性,1例病灶仅局限于掌骨。结论:肢骨纹状肥大是临床少见的代谢性骨病,其发病机制尚不明确,目前诊断主要依靠特征性的影像学检测结果。Objective To study the clinical feature,imaging finding,diagnosis and differential diagnosis of 3 sporadic cases of melorheostosis.Methods Three patients with melorheostosis,including a 11-year-old boy,a female aged 22,and a 32-year-old male,were collected from out-patient department and all were from non-consanguineous family.Results Blood tests showed no abnormalities in all three patients,but typical imaging finding was seen.The typical imaging finding was irregular trabecular or patchy condensed shadows seen in cortical or subperiosteal area.The lesions of 2 cases were multiple and unsymmetrical,and the lesions of another case were limited to carpel bones only.Conclusions Melorheostosis is a rare metabolic bone disease and the pathogenesis is not yet clear.The diagnosis relies mainly on the characteristic imaging finding.

关 键 词：肢骨纹状肥大 诊断 鉴别诊断 

分 类 号：R683[医药卫生—骨科学]