海神综合征的形态学特征及诊断  

Morphological characteristics and diagnosis of Proteus syndrome

作　　者：殷悦涵 孙丽颖[1] 田文[1] 赵俊会[1] 郭阳[1] 杨勇[1] 钟文耀 石静琳 黄盈棹 张楠 赵宗璇 Yin Yuehan;Sun Liying;Tian Wen;Zhao Junhui;Guo Yang;Yang Yong;Zhong Wenyao;Shi Jinglin;Huang Yingzhao;Zhang Nan;Zhao Zongxuan(Department of Hand Surgery,Beijing Jishuitan Hospital,the Fourth Clinical Medical College of Peking University,Beijing 100035,China;Peking Union Medical College Hospital,Beijing 100032,China)

机构地区：[1]北京积水潭医院,北京大学第四临床医学院手外科,北京100035 [2]中国医学科学院北京协和医院,北京100032

出　　处：《中华手外科杂志》2021年第6期401-405,共5页Chinese Journal of Hand Surgery

基　　金：国家重点研发计划-罕见病临床队列研究-精准医学研究专项(2016YFC0901500);中国医学科学院罕见病研究中心资助项目(2016ZX310174-4);北京积水潭医院院级基金(ZR-201907, 2019-YJ03);北京积水潭医院"学科新星"计划专项经费资助(XKXX201818)。

摘　　要：目的探究海神综合征的形态学特征及诊断标准。方法自2016年1月至2019年11月于我科就诊的7例形态学诊断为海神综合征患者,对其行全外显子基因检测,对比检测结果阳性及阴性者的形态学及组织学特点。结果 7例患者中,遗传学诊断为海神综合征者5例,不支持该诊断者2例。海神综合征患者的形态学具有以下特点:非对称性进行性过度生长;病变存在脑沟回样结缔组织病损;上述病变部位累及多个手指/足趾,甚至全手/全足或更大范围;合并多器官、多系统疾患。组织学上可见来源于骺软骨或关节软骨的白色类圆形特征性肿物。结论海神综合征现有的诊断标准有待进一步修订完善,我们认为具备前述特点可初步诊断为海神综合征,但有误诊可能,确诊仍有赖于基因检测;海神综合征的手术治疗效果并不理想,还需要更深入的研究以寻求更精确的治疗方法。Objective To explore the morphological characteristics and diagnostic criteria of Proteus syndrome.Methods From January 2016 to November 2019,7 patients with morphologically diagnosed Proteus syndrome were tested for all exons.The morphological and histological characteristics of positive and negative results were compared.Results Among the 7 patients,5 patients were genetically diagnosed as Proteus syndrome and the other two did not support the diagnosis.The morphology of patients with Proteus syndrome has the following characteristics:asymmetric progressive overgrowth;there were sulcus like connective tissue lesions in the lesions;the above lesions involve multiple fingers/toes,even the whole hand/foot or more;combined with multi organ and multi system diseases.Histologically,white round like characteristic tumors derived from epiphyseal cartilage or articular cartilage can be seen.Conclusion The existing diagnostic criteria of Proteus syndrome need to be further revised and improved.We believe that Proteus syndrome can be preliminarily diagnosed with the above characteristics,but it may be misdiagnosed,and the diagnosis still depends on gene detection.The effect of surgical treatment of Proteus syndrome is not ideal,and more in-depth research is needed to find a more accurate treatment.

关 键 词：遗传学 诊断 海神综合征 过度生长 形态学特征 

分 类 号：R597[医药卫生—内科学]