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Letter to editor: Raising awareness for children with CDH1 mutations 致编辑的信:提高对CDH1突变儿童的认识
IF 0.2 Q4 PEDIATRICS Pub Date : 2026-02-01 Epub Date: 2025-12-24 DOI: 10.1016/j.epsc.2025.103167
Jeremy L. Davis
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引用次数: 0
Small bowel obstruction due to Meckel's diverticulitis in a 5-year-old child: a case report 5岁儿童梅克尔憩室炎致小肠梗阻1例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2026-01-01 Epub Date: 2025-11-24 DOI: 10.1016/j.epsc.2025.103156
Marion Poget, Sabine Vasseur Maurer

Introduction

Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract, yet small bowel obstruction caused by its inflammation remains exceptionally rare, especially in children.

Case presentation

A previously healthy 5-year-old girl presented at a regional hospital with fever and abdominal pain for five days, followed by absence of stool and gas passage for 24 hours. Laboratory tests showed leukocytosis (22,000 cells/mm3) and elevated C-reactive protein (200 mg/L). Abdominal ultrasound revealed signs of small bowel obstruction, free intraperitoneal fluid but no visible appendix. Computed tomography demonstrated small bowel obstruction with possible decreased enhancement in a short segment of small bowel located in the subhepatic region, which prompted a transfer of the patient to our center. The patient, who showed stable vital signs and no evidence of peritonitis, underwent an MRI to further clarify the diagnosis. This exam suggested an internal hernia. Exploratory laparoscopy converted to laparotomy revealed a necrotic Meckel's diverticulum, whose thin pedicle was strangulating the small bowel. A wedge resection of the diverticulum was performed. The postoperative course was uneventful, and the patient was discharged on day four. At two-week follow-up, she was asymptomatic.

Conclusion

Meckel's diverticulitis must be included in the differential diagnosis of children who develop a small bowel obstruction.
梅克尔憩室是最常见的胃肠道先天性异常,但由其炎症引起的小肠梗阻仍然非常罕见,特别是在儿童中。病例介绍:一名健康的5岁女孩在地区医院就诊,发热和腹痛5天,随后24小时无大便和气体通过。实验室检查显示白细胞增多(22 000个细胞/毫米3)和c反应蛋白升高(200毫克/升)。腹部超声显示小肠梗阻,腹腔内积液,但未见阑尾。计算机断层扫描显示位于肝下区域的一小段小肠梗阻,可能增强减弱,这促使患者转移到我们的中心。该患者生命体征稳定,无腹膜炎迹象,接受了核磁共振检查以进一步明确诊断。这次检查显示是腹内疝。腹腔镜探查转为开腹检查,发现坏死的梅克尔憩室,其细蒂勒死小肠。行楔形憩室切除术。术后过程顺利,患者于第四天出院。在两周的随访中,她无症状。结论儿童发生小肠梗阻时,应将梅克尔憩室炎列入鉴别诊断。
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引用次数: 0
Total colonic duplication with vestibular fistula, including one with colorectal triplication: A case series 全结肠复制合并前庭瘘,包括1例结直肠复制:一个病例系列
IF 0.2 Q4 PEDIATRICS Pub Date : 2026-01-01 Epub Date: 2025-12-02 DOI: 10.1016/j.epsc.2025.103157
Michaël de Sousa Amaral , Mathilde Glenisson , Sylvie Beaudoin

Introduction

Complete colonic duplication associated with rectovestibular communication is extremely uncommon, whereas colorectal triplication has been documented only in isolated case reports.

Cases presentation

Case 1 involved a 34-day-old term baby girl, who presented with passage of stool through both a normal anus and an accessory vestibular orifice. Dual-tract contrast studies and hydrocolonic MRI demonstrated complete colonic duplication converging at a single cecum into which the terminal ileum inserted. At a postnatal age of 3 months, a combined Pfannenstiel and perineal approach allowed resection of the duplicated rectum and creation of a termino-lateral sigmoid–sigmoid unification. Postoperative recovery was uneventful, and age-appropriate continence was confirmed during follow-up. Case 2 concerned a female neonate delivered at 41 weeks’ gestation who began passing meconium on day two of life through both the anus and a vestibular orifice. Contrast opacification demonstrated complete colonic duplication, with the anterior duplicated segment coursing toward the vagina. At five months, combined perineal dissection and Pfannenstiel exposure revealed total colonic duplication extending to the terminal ileum, associated with duplication of both ceca and appendices. The duplicated rectum was mobilized, inverted, and excised. Intra-operatively, a rectal triplication embedded within the shared rectal wall was also identified and resected. All three rectosigmoid segments were subsequently anastomosed to the orthotopic colon using stapled unification, and the perineal body was reconstructed. Postoperative recovery was favorable with normal bowel function.

Conclusion

In females with a patent anus who pass stool through an accessory vestibular orifice, underlying colonic duplication should be systematically ruled out.
完全结肠复制与直肠前庭通信是极其罕见的,而结直肠复制仅在个别病例报告中有记录。病例1为一34天足月女婴,其表现为大便通过正常肛门和副前庭口。双束对比研究和结肠积水MRI显示完全结肠复制会聚于回肠末端插入的单个盲肠。在出生后3个月时,采用Pfannenstiel和会阴联合入路切除重复直肠,并建立乙状窦-乙状窦终外侧联合。术后恢复顺利,随访中确认适龄尿失禁。病例2涉及一名妊娠41周分娩的女婴,出生第2天开始通过肛门和前庭孔排出胎便。造影剂混浊显示完全结肠复制,前复制段向阴道方向移动。5个月时,会阴解剖和Pfannenstiel暴露显示全结肠复制延伸到回肠末端,盲肠和阑尾都有复制。重复直肠被移动、倒置并切除。术中,我们也发现并切除了一个嵌在共同直肠壁内的直肠三瘤。所有三个直肠乙状结肠段随后用钉状统一与原位结肠吻合,并重建会阴体。术后恢复良好,肠功能正常。结论肛门未闭经副前庭口排便的女性,应系统排除潜在的结肠复制。
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引用次数: 0
Innovative imaging techniques to guide the prenatal and postnatal management of premature omphalopagus conjoined twins: a case report 创新影像技术指导早产儿脐裂连体婴产前产后处理1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2026-01-01 Epub Date: 2025-11-26 DOI: 10.1016/j.epsc.2025.103155
Amanda Phares , Ghadeer Alkusayer , Frances Morin , Jessica Liauw , Horacio Osiovich , Robert Baird

Background

The incidence of conjoined twinning is approximately 1:100,000 with omphalopagus anatomy representing 10 % of all cases. With an overall survival rate of <10 % and a 60 % rate of survival in patients who undergo separation, considerable medical, surgical, and ethical planning is required.

Case presentation

A 34-year-old mother was identified as having conjoined twins at 9 weeks gestation. She underwent an early fetal Magnetic Resonance Imaging (MRI) to assess potential for viability and a late second trimester MRI – these identified omphalopagus anatomy with shared liver and a Tetralogy sequence in twin B. 3D modeling of these images guided delivery and separation planning. The twins were born prematurely at 29 weeks and 6 days. Neonatal Inteive Care Unit (NICU) management was instituted at birth and the initial cardiorespiratory status of the twins was stable with minimal circulatory mixing noted. Combined fetal weight was 2.6 kg. At 3 weeks of life, significant circulatory deterioration occurred in twin B. Urgent separation to facilitate treatment for twin B best optimized both patients’ survival and was in keeping with parental wishes. Detailed cross-sectional imaging was expedited and used to facilitate successful separation. Pre-op anesthesia time was 127 minutes and Operating Room time was 290 minutes; estimated blood loss was 150 mL. Twin B subsequently underwent emergent catheterization with pulmonary artery dilation and right ventricle outflow tract stenting. Both twins recovered successfully with twin A being discharged from hospital at 14 weeks old and twin B discharged at 15 weeks old.

Conclusion

Cross-sectional imaging with 3D modeling helps optimize outcomes for conjoined twins.
背景:连体双胞胎的发生率约为1:10万,脐裂解剖占所有病例的10%。总体存活率为10%,分离患者的存活率为60%,因此需要进行大量的医疗、手术和伦理规划。病例介绍一位34岁的母亲在妊娠9周时被确诊为连体双胞胎。她接受了早期的胎儿磁共振成像(MRI)来评估生存能力的潜力,并在妊娠中期晚期进行了MRI检查,这些检查确定了胎儿脐裂解剖与共享肝脏和双胞胎b的四联症序列,这些图像的3D建模指导了分娩和分离计划。这对双胞胎在29周零6天时早产。新生儿重症监护病房(NICU)管理在出生时建立,双胞胎的初始心肺状态稳定,循环混合最小。胎重合计2.6 kg。在出生3周时,双胞胎B出现了明显的循环恶化。紧急分离以促进双胞胎B的治疗,最好地优化了两名患者的生存,并符合父母的愿望。详细的横断面成像加快并用于促进成功的分离。术前麻醉时间127分钟,手术室时间290分钟;估计失血量为150毫升。双胞胎B随后接受了紧急导管置入术,肺动脉扩张和右心室流出道支架置入术。两个双胞胎都成功康复,双胞胎A在14周大时出院,双胞胎B在15周大时出院。结论三维建模的横断成像有助于优化连体双胞胎的预后。
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引用次数: 0
Corrigendum to “Raising awareness of the CDH1 mutation for the pediatric surgeon and the use of robotic assisted surgery in pediatric general surgery as demonstrated by a total gastrectomy: a case report” [J. Pediatr. Surg. Case Rep. 123C (2025) 103141] “提高儿科外科医生对CDH1突变的认识,并以全胃切除术为例,在儿科普通外科中使用机器人辅助手术:一个病例报告”的更正[J]。Pediatr。外科病例报告123C (2025) 103141]
IF 0.2 Q4 PEDIATRICS Pub Date : 2026-01-01 Epub Date: 2025-11-10 DOI: 10.1016/j.epsc.2025.103151
Melanie Elhafid , Kristopher Milbrandt , Richard Bigsby
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引用次数: 0
Ileo-umbilical enterocutaneous fistula as the first manifestation of pediatric Crohn’s disease: a case report 儿童克罗恩病的第一表现为回脐肠皮瘘1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-12-30 DOI: 10.1016/j.epsc.2025.103163
Medhat Elsayed , Sarah Magdy Abdelmohsen , Eiman Yassir Musa Hussain , Ekram Imam , Youmna Medhat , Tahani Helali

Background

Enterocutaneous fistula (ECF) is an uncommon and challenging complication of Crohn's disease in the pediatric population.

Case Presentation

A 14-year-old female presented with a one-year history of chronic abdominal pain, weight loss, and a 6-month history of persistent feculent umbilical discharge following a prior "abscess" drainage. A CT scan revealed a fistula tract connecting the umbilicus to an inflammatory mass in the ileocecal region. She was optimized with nutritional support and antibiotics to correct her fever and elevated inflammatory markers. She then underwent a laparoscopic ileocecal resection. The bowel was connected to the umbilicus via a fistula tract, not dense adhesions. The bowel was exteriorized, and an ileo-colic anastomosis was performed with a linear stapler. Her recovery was uneventful. Pathology confirmed Crohn's disease. At one-year follow-up, she was in remission on medication, with full wound healing and weight gain.

Conclusion

Crohn's disease should be suspected in patients who have a history of chronic abdominal pain, weight loss, and chronic purulent umbilical discharge, as the discharge can be an entero-cutaneous fistula.
背景肠皮瘘(ECF)是儿科人群中罕见且具有挑战性的克罗恩病并发症。病例介绍:一名14岁女性,慢性腹痛,体重减轻,既往“脓肿”引流后持续脐带脓性分泌物6个月。CT扫描显示连接脐和回盲区炎性肿块的瘘道。她得到了最佳的营养支持和抗生素,以纠正她的发烧和升高的炎症标志物。然后她接受了腹腔镜回盲切除术。肠道通过瘘道与脐部相连,没有密集的粘连。将肠取出,用线性吻合器进行回肠-结肠吻合。她的康复平安无事。病理证实是克罗恩病在一年的随访中,她的药物治疗缓解,伤口完全愈合,体重增加。结论有慢性腹痛、体重减轻、慢性脐脓性分泌物病史的患者应怀疑克罗恩病,因为分泌物可能为肠-皮瘘。
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引用次数: 0
Congenital esophageal stenosis in an eight-year-old boy: a case report 先天性食管狭窄1例8岁男童
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-12-30 DOI: 10.1016/j.epsc.2025.103169
Mohammad Shafiqi , Mujtaba Yama , Behnaz Rahimi , Dunya Moghul

Introduction

Congenital esophageal stenosis is one of the rarest congenital anomalies in children, with an incidence of approximately 1 in 25,000 to 50,000 live births. Esophagography is the primary diagnostic tool used for its identification.

Case report

An eight-year-old boy had dysphagia to solid foods since the age of six months. In the two days prior to his presentation to the hospital he developed persistent vomiting even after drinking water. He was malnourished, weak and had a weight of 18 kg. A contrast swallow study was initially interpreted as a caustic injury, but no history of ingestion was found. Due to the persistence of symptoms after two balloon dilatations done two weeks apart, congenital esophageal stenosis was suspected. The patient was taken to the operative room for an exploratory thoracotomy through the right side. We dissected the esophagus and found a fibrotic stenotic segment measuring 2 cm in length. We resected the segment and proceeded with an end-to-end anastomosis using interrupted PDS 3.0 sutures. A contrast swallow study done on postoperative day 5 confirmed no esophageal leak. We initiated clear liquid diet that day and advanced to soft diet the following day. He was discharged home on the 6th postoperative day. During the first year after the operation, we saw him monthly and confirmed that he remained asymptomatic. By the end of the first year his weight was 25 kg, and he continued to be without symptoms.

Conclusion

Congenital esophageal stenosis must be suspected in children who have a long-standing history of dysphagia.
先天性食管狭窄是儿童中最罕见的先天性异常之一,发病率约为1 / 25,000至50,000活产。食管造影是主要的诊断工具。病例报告:一名8岁男孩自6个月大时便出现固体食物吞咽困难。在他到医院就诊前两天,他甚至在喝水后也出现持续呕吐。他营养不良,身体虚弱,体重只有18公斤。对比吞咽研究最初被解释为腐蚀性损伤,但没有发现摄入史。由于间隔两周进行两次球囊扩张后症状持续,怀疑先天性食管狭窄。患者被送往手术室,通过右侧进行探查性开胸手术。我们解剖食道,发现一个长度为2厘米的纤维化狭窄段。我们切除了该节段,并使用中断的PDS 3.0缝合进行端到端吻合。术后第5天进行的对比吞咽研究证实没有食管渗漏。那天我们开始吃清流食,第二天开始吃软食。术后第6天出院。在手术后的第一年,我们每月检查一次,确认他没有任何症状。到第一年结束时,他的体重达到了25公斤,而且他仍然没有任何症状。结论有长期吞咽困难病史的儿童应怀疑先天性食管狭窄。
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引用次数: 0
Large congenital lymphatic venous malformation in a twin pregnancy: A case report 双胎妊娠大先天性淋巴静脉畸形1例
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-12-01 Epub Date: 2025-10-14 DOI: 10.1016/j.epsc.2025.103126
Azalia Avila , Nina Kosciuszek , Christine M. Finck , DonnaMaria E. Cortezzo

Introduction

Congenital lymphatic venous malformations (LVMs) are rare, slow-flow vascular anomalies with highly variable presentations. While most pose no considerable risk to the pregnant individual or fetus, larger complex lesions, particularly in monochorionic-diamniotic twin pregnancies, are uncommon and present unique diagnostic and management challenges.

Case presentation

A 27-year-old gravida 4, para 2 pregnant individual presented at 23 0/7 weeks' gestation with a monochorionic-diamniotic twin pregnancy. Ultrasound and fetal magnetic resonance imaging (MRI) revealed a large T2 hyperintense cystic mass extending from the chest wall into the neck, axilla, and arm of twin B, consistent with a LVM. Multidisciplinary evaluation guided prenatal surveillance. At 31 2/7 weeks’ gestation, evolving hydrops and severe maternal pre-eclampsia necessitated cesarean delivery. Twin B required intubation for airway compression and remained hemodynamically stable. MRI confirmed a complex and extensive LVM with an extensive venous component. After multidisciplinary discussion, she was treated with rapamycin and later underwent limited resection, drainage and vacuum assisted closure of the left neck lesion, leading to resolution of the lesion with subsequent extubation by day of life (DOL) 43. She subsequently underwent limited aspiration, drainage, and vacuum assisted closure of the left chest wall. She demonstrated clinical improvement with early initiation of supportive therapies.

Conclusion

Large fetal lymphovascular malformations require close monitoring and imaging surveillance throughout gestation due to the risk of potential lesion progression and hydrops fetalis.
摘要先天性淋巴静脉畸形(lvm)是一种罕见的慢流血管畸形,表现形式多变。虽然大多数对孕妇或胎儿没有相当大的风险,但较大的复杂病变,特别是在单绒毛膜-双羊膜双胎妊娠中,并不常见,并提出了独特的诊断和管理挑战。一例27岁妊娠期第4段妊娠个体在妊娠23 /7周出现单绒毛膜双羊膜双胎妊娠。超声和胎儿磁共振成像(MRI)显示双胞胎B的T2高强度囊性肿块从胸壁延伸到颈部、腋窝和手臂,符合LVM。多学科评价指导产前监测。在妊娠31 /7周,不断发展的积液和严重的母体先兆子痫需要剖宫产。双胞胎B需要插管进行气道压迫并保持血流动力学稳定。MRI证实一个复杂和广泛的LVM与广泛的静脉成分。在多学科讨论后,她接受雷帕霉素治疗,随后进行了有限切除、引流和真空辅助关闭左颈部病变,最终在生命当天(DOL)拔管治疗病变43。随后,她接受了有限的抽吸、引流和真空辅助关闭左胸壁。她在早期开始支持性治疗后表现出临床改善。结论大的胎儿淋巴血管畸形有发展和积水的危险,需要在整个妊娠期密切监测和影像学监测。
{"title":"Large congenital lymphatic venous malformation in a twin pregnancy: A case report","authors":"Azalia Avila ,&nbsp;Nina Kosciuszek ,&nbsp;Christine M. Finck ,&nbsp;DonnaMaria E. Cortezzo","doi":"10.1016/j.epsc.2025.103126","DOIUrl":"10.1016/j.epsc.2025.103126","url":null,"abstract":"<div><h3>Introduction</h3><div>Congenital lymphatic venous malformations (LVMs) are rare, slow-flow vascular anomalies with highly variable presentations. While most pose no considerable risk to the pregnant individual or fetus, larger complex lesions, particularly in monochorionic-diamniotic twin pregnancies, are uncommon and present unique diagnostic and management challenges.</div></div><div><h3>Case presentation</h3><div>A 27-year-old gravida 4, para 2 pregnant individual presented at 23 0/7 weeks' gestation with a monochorionic-diamniotic twin pregnancy. Ultrasound and fetal magnetic resonance imaging (MRI) revealed a large T2 hyperintense cystic mass extending from the chest wall into the neck, axilla, and arm of twin B, consistent with a LVM. Multidisciplinary evaluation guided prenatal surveillance. At 31 2/7 weeks’ gestation, evolving hydrops and severe maternal pre-eclampsia necessitated cesarean delivery. Twin B required intubation for airway compression and remained hemodynamically stable. MRI confirmed a complex and extensive LVM with an extensive venous component. After multidisciplinary discussion, she was treated with rapamycin and later underwent limited resection, drainage and vacuum assisted closure of the left neck lesion, leading to resolution of the lesion with subsequent extubation by day of life (DOL) 43. She subsequently underwent limited aspiration, drainage, and vacuum assisted closure of the left chest wall. She demonstrated clinical improvement with early initiation of supportive therapies.</div></div><div><h3>Conclusion</h3><div>Large fetal lymphovascular malformations require close monitoring and imaging surveillance throughout gestation due to the risk of potential lesion progression and hydrops fetalis.</div></div>","PeriodicalId":45641,"journal":{"name":"Journal of Pediatric Surgery Case Reports","volume":"123 ","pages":"Article 103126"},"PeriodicalIF":0.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145323967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Raising awareness of the CDH1 mutation for the pediatric surgeon and the use of robotic assisted surgery in pediatric general surgery as demonstrated by a total gastrectomy: a case report 提高儿科外科医生对CDH1突变的认识,并通过全胃切除术证明机器人辅助手术在儿科普通外科中的应用:一份病例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-12-01 Epub Date: 2025-10-30 DOI: 10.1016/j.epsc.2025.103141
Melanie Elhafid , Kristopher Milbrandt , Richard Bigsby

Introduction

CDH1 mutation is a rare autosomal dominant mutation. Individuals with this mutation have a lifetime risk of up to 70 % for developing diffuse gastric cancer, often at a young age, and many undergo prophylactic total gastrectomies.

Case presentation

We present the case of a teenage girl with a known CDH1 mutation, identified through family screening. Her family history was significant for diffuse gastric carcinoma, with multiple relatives, including her mother, having previously undergone total gastrectomies due to malignancy. On her first surveillance gastroscopy at age 13, multiple small foci of signet ring cells were discovered despite the absence of clinical symptoms. In collaboration with our adult thoracic surgical team, we conducted a 6-h robotic-assisted total gastrectomy, with Roux-en-Y reconstruction using 4 robotic ports (one of which was an umbilical 10 mm camera port) and one laparoscopic assistant port. Both the esophagojejunal and jejunojejunal anastomoses were create with a robotic stapler. The procedure was successful, and the patient had a favorable postoperative course. The patient resumed gradual enteral feeds post-op day 1 and was discharged home on post-op day 8 tolerating her regular diet. Final pathology confirmed the presence of scattered signet ring cell foci, with negative margins and lymph nodes. The patient continues to do well at one year follow-up, with ongoing nutritional and psychological support. This case is unique as, to the best of our knowledge, it represents one of only a handful of robotic-assisted total gastrectomies reported in pediatric patients worldwide.

Conclusion

Robotic-assisted surgery seems to be a feasible option for teenagers who require a prophylactic total gastrectomy due to a CDH1 mutation.
cdh1突变是一种罕见的常染色体显性突变。携带这种突变的个体一生中患弥漫性胃癌的风险高达70%,通常在年轻时发生,许多人接受预防性全胃切除术。病例介绍我们提出一个十几岁的女孩与已知的CDH1突变,通过家庭筛查确定。患者有弥漫性胃癌家族史,包括其母亲在内的多名亲属曾因恶性肿瘤行全胃切除术。在她13岁时的第一次胃镜检查中,尽管没有临床症状,但发现了多个小的印戒细胞灶。与我们的成人胸外科团队合作,我们进行了6小时的机器人辅助全胃切除术,使用4个机器人端口(其中一个是脐带10毫米相机端口)和一个腹腔镜辅助端口进行Roux-en-Y重建。食管空肠吻合器和空肠吻合器均采用机器人吻合器制作。手术是成功的,病人有一个良好的术后过程。患者术后第1天恢复逐渐的肠内喂养,术后第8天出院,饮食正常。最终病理证实存在分散的印戒细胞灶,伴阴性边缘和淋巴结。在持续的营养和心理支持下,患者在一年的随访中继续表现良好。据我们所知,这个病例是独一无二的,因为它代表了全世界儿科患者中为数不多的机器人辅助全胃切除术之一。结论机器人辅助手术对于因CDH1突变而需要预防性全胃切除术的青少年来说是一种可行的选择。
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引用次数: 0
Large aneurysmal dermatofibroma mimicking melanoma in an adolescent: A case report 青少年大动脉瘤性皮肤纤维瘤模拟黑色素瘤:1例报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2025-12-01 Epub Date: 2025-11-06 DOI: 10.1016/j.epsc.2025.103145
Emma Lim , Andreana Bütter

Introduction

Hemosiderotic dermatofibroma (HDF) is an infrequent variant of dermatofibroma, made up of small blood vessels, hemosiderin deposits, and extravasated erythrocytes. HDF closely resembles melanoma, with irregular borders and colour changes on clinical examination and atypical cell organization on dermoscopy and can pose a diagnostic dilemma.

Case presentation

We report the case of a large (5cm) subcutaneous hemosiderotic/aneurysmal DF (H/ADF) that appeared on the flank of 17-year-old, otherwise healthy, male patient. The mass evolved over two years, with purple discoloration noticed three months prior. Clinical examination revealed a palpable moveable mass overlying the left hip in the subcutaneous tissues measuring approximately 4 x 4 cm. Because of both the substantial size of the mass and diagnostic uncertainty, the decision was made to proceed with surgical resection. The lesion was resected without complication, although there was copious bleeding initially. Pathological findings showed a dermatofibroma, cellular subtype, with aneurysmal change. Sections showed a solid, cellular proliferation composed of plump ovoid to spindle cells arranged in a storiform pattern and short fascicles punctuated by areas of hemorrhage and associated hemosiderin pigment deposition. Occasional multinucleated giant cells were seen. At 1 month follow-up, the patient was in good condition, and completely asymptomatic. There was no recurrence.

Conclusion

Pediatric surgeons should be aware that rare dermatofibroma variants, such as aneurysmal dermatofibroma, can clinically resemble melanoma and should be treated with excisional biopsy. Diagnosis should always be confirmed with histopathology and immunohistochemistry.
含铁血黄素性皮肤纤维瘤(HDF)是一种罕见的皮肤纤维瘤,由小血管、含铁血黄素沉积和外渗的红细胞组成。HDF与黑色素瘤非常相似,临床检查时边界不规则,颜色变化,皮肤镜检查时细胞组织不典型,可能导致诊断困境。我们报告一个大的(5cm)皮下含铁血黄素/动脉瘤性DF (H/ADF),出现在17岁,其他健康,男性患者的侧面。这个肿块在两年多的时间里形成,三个月前就出现了紫色。临床检查显示在左髋关节皮下组织上有一个可触及的可移动肿块,大小约为4 x 4厘米。由于肿块的大小和诊断的不确定性,我们决定进行手术切除。病变切除无并发症,虽然有大量出血最初。病理表现为皮肤纤维瘤,细胞亚型,伴动脉瘤样改变。切片显示实性细胞增生,由丰满的卵形细胞到呈故事状排列的梭形细胞组成,短束状细胞被出血区和相关的含铁血黄素色素沉积所打断。偶见多核巨细胞。随访1个月,患者状态良好,完全无症状。无复发。结论小儿外科医生应注意罕见的皮肤纤维瘤变体,如动脉瘤性皮肤纤维瘤,在临床上与黑色素瘤相似,应采用切除活检治疗。诊断必须通过组织病理学和免疫组织化学来证实。
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引用次数: 0
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Journal of Pediatric Surgery Case Reports
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