目的: 分析170例巨指(趾)患者的临床特点。方法: 回顾性分析2006年3月至2019年10月收治的170例巨指(趾)患者的资料,统计分析其发病情况、受累指(趾)的分布及特征、X线及病理检查结果,对基因检测的12例患者进行临床分析。结果: 巨指(趾)的发病与性别和地理分布无明显相关关系。多指(趾)受累是单指(趾)发病的3.9倍,两指(趾)受累多于三指,且多为相邻指(趾);巨指中,中指受累最为多见,其次为示指、拇指;巨趾中,以第2、3趾最多。进展型巨指(趾)多于静止型,且多为出生后即发现。病变的巨指多发生在正中神经支配区(79.4%), 并伴有脂肪浸润,称之为神经区域定向性巨指。巨趾多发生在足底内侧神经支配区(89.1%),脂肪浸润不明显伴有神经增粗,称之为脂肪瘤病性巨趾。仅17例巨指(趾)合并并指(趾)畸形。掌、跖骨肥大仅见于进展型巨指(趾)。12例患者进行PIK3CA基因检测,10例发现基因突变结果阳性,受累组织中基因突变水平在7%~27%。在收集的病变组织检查中,脂肪组织中突变率最高,其次是皮肤和神经组织。患者携带的PIK3CA基因突变均未在患者自身的外周血检测出来。结论: 巨指多发生在正中神经支配区,主要累及中指、示指,并伴有正中神经脂肪浸润;巨趾多发生在足底内侧神经支配区,以第2、3趾多见。神经区域定向性巨指(趾)多发生在手部,而脂肪瘤病性巨指(趾)多发生在足部。巨指(趾)患者中检测到的 PIK3CA基因突变率高达83%;受累脂肪、神经及皮肤组织均为理想的基因检测组织来源。

Objective: To analyze the clinical characteristics of 170 cases of macrodactyly. Methods: Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed. Results: Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformities, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative. Conclusion: Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.