多学科会诊综合诊治骨膜增生厚皮症1例  

A Case Report of Pachydermoperiostosis by Multidisciplinary Diagnosis and Treatment

作　　者：张洁[1] 张燕[2] 霍力[3] 吕珂[4] 王涛[1] 夏泽楠 龙笑[5] 徐可欣 吴南[6] 杨波[6] 夏维波[7] 胡蓉蓉[8] 陈丽萌[8] 李骥[9] 洪霞[10] 张炎[11] 左亚刚[1] ZHANG Jie;ZHANG Yan;HUO Li;LYU Ke;WANG Tao;XIA Ze′nan;LONG Xiao;XU Kexin;WU Nan;YANG Bo;XIA Weibo;HU Rongrong;CHEN Limeng;LI Ji;HONG Xia;ZHANG Yan;ZUO Yagang(Department of Dermatology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Nuclear Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Ultrasound,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Plastic Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Orthopedics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Nephrology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Psychology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Hematology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院皮肤科,北京100730 [2]中国医学科学院北京协和医院放射科,北京100730 [3]中国医学科学院北京协和医院核医学科,北京100730 [4]中国医学科学院北京协和医院超声科,北京100730 [5]中国医学科学院北京协和医院整形外科,北京100730 [6]中国医学科学院北京协和医院骨科,北京100730 [7]中国医学科学院北京协和医院内分泌科,北京100730 [8]中国医学科学院北京协和医院肾内科,北京100730 [9]中国医学科学院北京协和医院消化内科,北京100730 [10]中国医学科学院北京协和医院心理医学科,北京100730 [11]中国医学科学院北京协和医院血液科,北京100730

出　　处：《罕见病研究》2025年第1期75-82,共8页Journal of Rare Diseases

摘　　要：患者男性,20岁,因“面部瘢痕、下肢肿胀8年,头皮增厚4年”就诊于北京协和医院皮肤科。专科查体示面部、耳后可见多发瘢痕样增生,额部、颊部可见皱褶,睫毛粗长,上睑下垂。头皮可见条索状沟回。双下肢皮肤肿胀,双膝关节、踝关节为著。手掌、足底皮肤角化增厚。辅助检查:骨关节X线提示双手近中节指骨、掌骨、尺桡骨远端、双侧胫腓骨、股骨远端、双足跖骨骨膜增生;基因检测提示SLCO2A1基因c.1658T>A、c.96+4A>C两处变异。经多学科会诊,诊断为骨膜增生厚皮症,予口服COX-2抑制剂依托考昔治疗。A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring,swelling of the lower limbs,and a 4-year history of scalp thickening.Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears,ciliary body hirsutism,blepharoptosis,and cutis verticis gyrate.Both lower limbs were swollen,especially the knees and ankles.The skin of the palms and soles of the feet was keratinized and thickened.Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands,distal ulna and radius,tibia and fibula,distal femurs,and metatarsals.Genetic testing revealed two variants in SLCO2A1,c.1658T>A and c.96+4A>C.Through multidisciplinary consultation,we confirmed the diagnosis of pachydermoperiostosis.

关 键 词：骨膜增生厚皮症 多学科诊治 SLCO2A1基因 COX-2抑制剂 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]