35例巨趾症的临床特点分析

Clinical characteristics of 35 cases of foot macrodactyly

目的分析35例单纯性巨趾症患者的临床资料并总结疾病特点。方法回顾性分析了北京市顺义区医院2018年10月至2021年2月收治的35例入院手术及门诊收治的巨趾症患者资料。按照患者的基本资料、体格检查结果、影像学结果、病理结果、基因检测结果及手术方式等项目进行临床特点分析。结果性别比例:巨趾症男女比例为22∶13,患者来源地分散,无集中地域分布。巨趾症发病双侧数量均等;趾体范围组合前3位为:第2、3趾,第2趾及第1、2、3趾;其中第2趾发病率最高,为39.29%。X线片结果提示所有病变肢体骨均增长、增宽,骨髓腔增大,部分伴有跖骨增大病变。病理报告提示脂肪、神经、软骨、骨骼肌、皮肤及结缔组织、皮下胶原纤维增生。对12例巨趾症患者病变组织进行基因检测,结果均提示携带PIK3CA基因突变。结论巨趾症在足部第2趾多见,常伴第1趾及第3趾发病,病理检查皮肤、脂肪、肌肉、神经及骨组织均有病变表现,所有送检样本均被检测到携带PIK3CA基因突变。

Objective To analyze the clinical data of 35 patients with isolated macrodactyly of the foot and summarize the characteristics of this disease.Methods The data of 35 inpatients and outpatients in Shunyi District Hospital of Beijing from October 2018 to February 2021 were retrospectively analyzed.The clinical characteristics were analyzed according to the general condition,physical examination results,imaging results,pathological reports,gene detection results,surgical methods and other items.Results The gender ratio of macrodactyly of the foot was male:female(22 cases:13 cases).The sources of patients were scattered,and there was no centralized geographical distribution.The number of bilateral foot macrodactyly was equal.The top three combinations of the range of toes were the 2th and 3th toes,the 2th toe,the 1th,2th and 3th toes,the 2th toe with the highest incidence of 39.29%.The X-ray results showed that the bone of all the affected limbs grew and widened,and the bone marrow cavity was enlarged,and some were accompanied by metatarsal enlarged lesions.Pathological reports showed hyperplasia of fat,nerve,cartilage,skeletal muscle,skin and connective tissue and subcutaneous collagen fibers.A total of 12 cases foot and hand macrodactyly were tested for gene mutation.Conclusion Macrodactyly is more common in the 2th toe of the foot,often accompanied by the 1th and 3th toes,.Pathological examination showed lesions in skin,fat,muscle,nerve and bone.PIK3CA mutation was detected in all samples.