Clinical and genetic characteristics of 131 cases of congenital preauricular fistula
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摘要: 目的 探讨先天性耳前瘘管(CPF)的临床及遗传特征。方法 回顾性分析131例(143耳)CPF患者的临床资料，统计患者年龄构成比、性别比、瘘管侧别比、外瘘口个数、瘘管口位置、有无伴发畸形、此次感染病程、既往感染史、既往治疗史以及家族史等资料。结果 本研究患者中未成年54例(41.2%)，成年77例(58.8%)，≤40岁118例(90.1%)，>40岁13例(9.9%)。男：女为1：1.85，单侧患者与双侧患者比为3.7：1，单侧患者中男∶女为1∶2.03，双侧患者中男∶女为1∶1.33。瘘管口位置位于升耳轮前124例(94.7%)，位于升耳轮前方以外位置的有7例(5.3%)，分别是位于耳轮脚3例(2.3%)，位于外耳道前上壁3例(2.3%)，位于耳垂下边缘1例(0.7%)。除2例在外耳道前上壁有2个瘘口(1.4%)，1例表现为耳轮软骨前假性瘘口外，141耳的外瘘口表现为单一瘘口(98.6%)。有2例伴有先天性副耳畸形，1例伴有轻度小耳畸形。术前处于非感染期18耳(12.6%)，感染期125耳(87.4%)，术前处于感染期患者感染病程在3 d~1年不等，0~3个月者有110耳(76.9%)。有前期手术史14耳(9.8%)，有切开排脓史者62耳(43.4%)。84例(64.1%)无家族史，47例(35.9%)有家族史。表现为垂直传递的家系有26个(19.8%)，隔代遗传7个家系(5.3%)，家族聚集的家系14个(10.7%)。结论 CPF多为女性好发，多为单侧，左右耳发生率相当，也可为双侧。绝大多数患者表现为单侧耳轮脚前单一瘘管口，极少数患者耳瘘口发生在耳轮脚、外耳道前上壁、耳垂下边缘。可以伴发小耳、附耳等畸形。应该重视特殊类型和综合征性耳前瘘管的临床特征。大部分患者处于急性感染期，脓肿切排是感染期的主要治疗手段。CPF患者以散发多见，遗传上表现为不完全的常染色体显性遗传。Abstract: Objective To investigate the clinical and genetic characteristics of congenital preauricular fistula.Method The clinical data of 131 patients(143 ears) with congenital preauricular fistula. The patient's age distribution, sex ratio, side of fistula, number of fistula, location of fistula, concomitant malformation, course of infection, previous infection history, previous treatment history and family history were counted.Result In this study, 54 cases(41.2%) were juveniles, 77 cases(58.8%) were adults, 118 cases(90.1%) were under 40 years old, and 13 cases were(9.9%) over 40 years old. The male to female ratio is 1:1.85, and the ratio of unilateral to bilateral patients is 3.7:1. The male to female ratio was 1:2.03 in unilateral patients and 1:1.33 in bilateral patients. The preauricular skin pit of 124 cases(94.7%) located at the anterior margin of the ascending limb of the helix, and The pit of 7 cases(5.3%) located at other areas such as the crus of helix(3 cases, 2.3%), the anterosuperior wall of the external auditory canal(3 cases, 2.3%), and the lower edge of the lobule(1 case, 0.7%). 2 cases(1.4%) showed 2 fistulas in the anterosuperior wall of the external auditory canal, and 1 case showed a false fistula in front of the ascending limb of the helix, 141 ears(98.6%) showed a single fistula. Two cases were accompanied with accessory auricles, and one case with mild microtia. Before operation, 18 ears were non-infectious(12.6%) and 125 ears were infected(87.4%). Among the infected ears, the course of infection ranged from 3 days to 1 year, 110 ears(76.9%) were in the course from 0 to 3 months. 14 ears had pre-operation history(9.8%) and 62 ears had incision and exclusion history(43.4%). 84 people(64.1%) had no family history and 47 people(35.9%) had family history. There were 26(19.8%) families showed vertical inheritance, 7(5.3%) families showed atavistic pattern, and 14(10.7%) families showed familial susceptibility.Conclusion CPF is more common in female, and usually unilateral and occasionally bilateral. there is no significant difference between the left and right sides. The vast majority of patients showed a single fistula at the anterior margin of the ascending limb of the helix. Very few patients had fistula at the crus of helix, the upper wall of the external auditory canal, and the lower edge of the lobule. CPF can be accompanied with accessory auricles and mild microtia. The clinical features of special type of preauricular fistula and syndromic preauricular fistula should be emphasized. Most patients are in an acute infection period, and drainage of the abscess is the main treatment for the infection. CPF is often sporadic. It may be inherited as an autosomal dominant incomplete pattern with variable power of expression.
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