先天性无痛无汗症骨关节病的临床与X线表现特征

Radiological and clinical features of bone and joint disease in patients with congenital insensitivity to pain and anhidrosis

目的探讨先天性无痛无汗症骨关节病的临床及x线表现特点。方法回顾性分析8例先天性无痛无汗症骨关节病患者的临床及X线表现，总结其特征。8例均拍摄x线片，主要观察病灶部位、范围、形态、周边骨质硬化、关节及软组织改变。结果临床主要表现为无痛、无汗、发热、智力发育迟缓和感染。8例共累及166块骨，其中跖、趾骨115块，指骨29块。整根骨完全或大部分骨质溶解缺失113块，骨质呈小斑片状溶解40块，溶解的骨质仅残留小斑片状骨质影7块，残留骨端呈“图钉征”、“平截征”、“笔尖征”6块。周边骨质硬化12块，伴病理性骨折2块。关节脱位3个、关节变形3个、夏科关节3个。软组织溃烂4例，指端或趾端软组织完全缺如4例，软组织内见斑点状钙化3例。结论先天性无痛无汗症骨关节病具有一定的临床与X线特征。

Objective To investigate the radiological and clinical features of osteoarthrosis in congenital insensitivity to pain with anhidrosis （CIPA）.Methods The clinical and radiological features in 8 cases of CIPA diseases were retrospectively analyzed. There were five males and three females,age ranged from 11 to 18 years with a median age of （14±3） years. X-ray plain film findings in eight cases were analyzed for the location, extent and contour of the lesions, surrounding bony sclerosis, as well as joint and soft tissue changes. Results The main clinical presentations were insensitivity to pain, anhydrosis, fever, mental retardation and infection. In these eight cases, a total of 166 pieces of bone were involved, including the plantar and phalanges （n=ll5）,phalanx （n=29）.The radiological findings include dissolution of the entire bone or most of the bone （n=113）, dissolution of a few small areas of the bone （n=40）, dissolution of the bone with only residual punctate areas （n=7）, the ＂pushpin sign＂ and ＂pencil tip sign＂ and ＂flat cut sign＂ of the finger osteolysis （n=6）, sclerosis of peripheral bone （n=12）, pathological fractures （n=2）. Joint dislocation （n= 3）,joint deformity （n=3）, and Charcot joint （n=3） were observed.Necrosis of soft tissue（n=4）, complete absence of soft tissue in the finger or toe （n=4）, dot-like calcification of the soft tissue（n=3） were also observed. Conclusion Osteoarthrosis in patients with CIPA had certain X-ray and clinical characteristic findings, which could facilitate its diagnosis.