Proteus 综合征一例报告  

Proteus syndrome:a case report

作　　者：张黎明 朱岩 樊根涛 周光新 ZHANG Li-ming;ZHU Yan;FAN Gen-tao;ZHOU Guang-xin(Department of Orthopedics,Jinling Hospital,Affiliated Hospital of Medical School,Nanjing University,Nanjing,Jiangsu,210000,China)

机构地区：[1]南京大学医学院附属金陵医院骨科,江苏省210000

出　　处：《中国骨与关节杂志》2025年第1期72-77,共6页Chinese Journal of Bone and Joint

摘　　要：普罗特斯综合征(Proteus syndrome,PS)又称变形综合征,是一种罕见的散发性先天疾病,其首次于1979年由Cohen等[1]报道。该疾病罕见,其发病率为1/1000万~1/100万[2],男女患者比例约为1.9∶1。截至2023年9月,世界范围内已报道的通过基因检测确诊的PS患者少于130例。其发病机制是由于部分体细胞中位于染色体14q32.36的AKT1基因中发生了嵌合性突变,导致AKT1激酶的磷酸化增强,通过磷脂酰肌醇3激酶-蛋白激酶B-哺乳动物雷帕霉素靶蛋白[phosphatidylinositol 3-kinase(PI3K)-protein kinase B(AKT)-mammalian target of rapamycin(mTOR),PI3K-AKT-mTOR]信号通路促进细胞的持续增殖[3]。Objective To report the clinical features,imaging features,diagnosis,differential diagnosis and treatment of Proteus syndrome (PS) in a patient with syndactyly deformity.Methods This paper analyzed the clinical data of a patient with PS admitted to the Department of Orthopedics,Jinling Hospital Affiliated to Nanjing University School of Medicine in October 2022,and used “Proteus syndrome” as the search term to search the literature collected in PubMed database and Chinese database up to November 2023,respectively.The clinical characteristics,differential diagnosis and treatment of the disease were summarized.Results The clinical manifestations of the patient included progressive overgrowth of the second and third toes accompanied by gyricular hyperplasia of the skin on the bottom of the foot.Since the patient’s symptoms seriously affected the quality of life and the targeted drug treatment course was long,the patient was given tissue volume reduction and multi-toe amputation to ensure the quality of life of the patient.After operation,the patient’s limb motor function was significantly improved.Conclusions PS often involves skin,bone,fat and central nervous system.Excessive growth accompanied by abnormal adipose tissue is one of the prominent features of PS,and this disease often needs to be distinguished from hypergrowth diseases.At present,there is no evidence to support the association between toe deformity and PS.The main treatment method is to improve the quality of life of patients by orthopaedic surgery supplemented with targeted drug therapy.

关 键 词：PROTEUS综合征 截肢术 基因突变 

分 类 号：R682.6[医药卫生—骨科学]