Wang Kai, Peng Chunhui, Pang Wenbo, Wang Zengmeng, Wu Dongyang, Zhang Dan, Siyin Sarah Tan, Chen Yajun
Department of General Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Front Pediatr. 2021 Feb 10;9:627188. doi: 10.3389/fped.2021.627188. eCollection 2021.
The triad of anorectal malformation (ARM), labioscrotal fold malformation, and perineal mass has rarely been reported before. The purpose of this study was to review our experience in these patients, describe their characteristics, and discuss the possible pathogenesis. Seven pediatric patients diagnosed with ARM associated with both labioscrotal fold malformation and perineal mass were included in this study. Medical records of these patients were retrospectively reviewed, and follow-up was held through telephone contact or outpatient service. Among the seven patients were six females and one male, and the age at surgery was between 5.2 and 12.4 months. The ratio of lateral-type to mid-perineum-type labioscrotal fold malformation was 5:2. The ARM type was all rectoperineal fistula. Operation was excision of the malformation and perineal mass at the same time of anoplasty. The pathology was lipoma (three cases), fibroma (one case), lipofibroma (one case), angiolipoma (one case), and mesenchymal hamartoma (one case). All the seven patients had no wound complication, and during the follow-up period of 7-100 months after surgery, none of the seven patients suffered perineal mass recurrence. Bowel control was satisfactory in the follow-up period. There is a low incidence for the triad of ARM, labioscrotal fold malformation, and perineal mass. The nature of this disease is neoplastic overgrowth of intervening mesenchymal tissue, which impedes the continuity of caudal development into normal labioscrotal fold and affects the extension of urorectal septum, leading to ARM. Prognosis is mainly dependent on the type of ARM.
肛门直肠畸形（ARM）、阴唇阴囊褶畸形和会阴肿物三联征此前鲜有报道。本研究的目的是回顾我们对这些患者的治疗经验，描述其特征，并探讨可能的发病机制。本研究纳入了7例诊断为ARM合并阴唇阴囊褶畸形和会阴肿物的儿科患者。对这些患者的病历进行了回顾性分析，并通过电话联系或门诊进行随访。7例患者中，6例为女性，1例为男性，手术年龄在5.2至12.4个月之间。阴唇阴囊褶畸形外侧型与会阴中部型的比例为5:2。ARM类型均为直肠会阴瘘。手术在肛门成形术的同时切除畸形和会阴肿物。病理结果为脂肪瘤（3例）、纤维瘤（1例）、脂肪纤维瘤（1例）、血管脂肪瘤（1例）和间叶性错构瘤（1例）。7例患者均无伤口并发症，术后7至100个月的随访期间，7例患者均未出现会阴肿物复发。随访期间排便控制情况良好。ARM、阴唇阴囊褶畸形和会阴肿物三联征的发病率较低。本病的本质是中间间充质组织的肿瘤性过度生长，阻碍了尾侧发育为正常阴唇阴囊褶的连续性，并影响尿直肠隔的延伸，导致ARM。预后主要取决于ARM的类型。
