Integrated percutaneous sclerotherapy and surgical intervention for giant cutaneomucosal venous malformation from TIE2 mutation:A case report

Cutaneomucosal venous malformations(VMCMs)can manifest as sporadic or familial forms,following an autosomal dominant inheritance pattern.This report highlights the case of a 5-year-old girl presenting with a substantial congenital VMCM attributed to a TIE2 mutation,who underwent percutaneous sclerotherapy followed by surgery.The clinical,three-dimensional computed tomographic angiography(3D-CTA),as well as pathological and genetic findings concerning a patient with an extensive VMCM in the left pro-axillary region,are elucidated.The genetic analysis in this patient verified a missense mutation(c.2545T>C)in TIE2,confirming familial VMCMs.The combined strategy integrating percutaneous sclerotherapy and surgical excision is the most efficacious approach for managing large VMCMs and can successfully attain therapeutic goals.

Mechanical intestinal obstruction due to isolated diffuse venous malformations in the gastrointestinal tract: A case report and review of literature

BACKGROUND Isolated gastrointestinal venous malformations(GIVMs)are extremely rare congenital developmental abnormalities of the venous vasculature.Because of their asymptomatic nature,the diagnosis is often quite challenging.However,as symptomatic GIVMs have nonspecific clinical manifestations,misdiagnosis is very common.Here,we report a case of isolated diffuse GIVMs inducing mechanical intestinal obstruction.A literature review was also conducted to summarize clinical features,diagnostic points,treatment selections and differential diagnosis in order that doctors may have a comprehensive understanding of this disease.CASE SUMMARY A 50-year-old man presented with recurrent painless gastrointestinal bleeding for two months and failure to pass flatus and defecate with nausea and vomiting for ten days.Digital rectal examination found bright red blood and soft nodular masses 3 cm above the anal verge.Computed tomography showed that part of the descending colon and rectosigmoid colon was thickened with phleboliths in the intestinal wall.Colonoscopy exhibited bluish and reddish multinodular submucosal masses and flat submucosal serpentine vessels.Endoscopic ultrasonography showed anechoic cystic spaces within intestinal wall.The lesions were initially thought to be isolated VMs involving part of the descending colon and rectosigmoid colon.Laparoscopic subtotal proctocolectomy,pullthrough transection and coloanal anastomosis and ileostomy were performed.Histopathology revealed intact mucosa and dilated,thin-walled blood vessels in the submucosa,muscularis,and serosa involving the entire colorectum.The patient recovered with complete symptomatic relief during the 52-mo follow-up period.CONCLUSION The diagnosis of isolated GIVMs is challenging.The information presented here is significant for the diagnosis and management of symptoms.

Intraosseous venous malformation of the maxilla after enucleation of a hemophilic pseudotumor: A case report

BACKGROUND Hemophilic pseudotumor(HP)is a rare complication in patients with hemophilia.The lesion most frequently occurs in the long bones,pelvis,small bones of the hands and feet,or rarely in the maxillofacial region.Postoperative changes in HP are seldom arrested,whereas angiogenesis characterized by disturbed wound healing in HP may cause vascular malformations.CASE SUMMARY We report the case of an 11-year-old boy who was affected by maxillary intraosseous venous malformation.Enucleation of an HP without factor replacement was performed initially on the right side of the maxilla 3 years ago.The patient was referred to us because of painless swelling in the same location.Factor replacement and subtotal maxillectomy were performed.Pathological examinations revealed intraosseous venous malformation.CONCLUSION This study is the first to document the development of intraosseous venous malformation after enucleation of an HP in the maxillofacial region.Angiogenesis characterized by disturbed wound healing in patients with hemophilia may be pivotal in the pathogenesis of this condition.

Severe absence of intra-orbital fat in a patient with orbital venous malformation:A case report

BACKGROUND The orbital venous malformation is quite common in orbital diseases.Clinically,it is usually characterized by proptosis.However,among patients with distensible venous malformations,if the lesions continuously progress,they may induce enlargement of the orbital bone or orbital lipoatrophy,which in turn leads to enophthalmos.CASE SUMMARY Here,we report a patient who presented with enophthalmos and had a severe absence of intra-orbital fat secondary to orbital venous malformation.The patient was a 66-year-old female with a 20-year history of enophthalmos.Hertel exophthalmometry readings in a relaxed upright position were 4 mm OD and 13 mm OS with a 97 mm base.It was determined that she had positional“proptosis”.Physical examination also revealed a bulging mass on her hard palate.Computed tomographic scan and magnetic resonance imaging showed an expansion of the right orbit with local bony defects and multiple soft-tissue masses.CONCLUSION Long-term lack of awareness about the presence of orbital venous malformations,persistent venous congestion could lead to compression of the orbital fat,which in turn induces atrophy or the absence of intra-orbital fat.

Efficacy and safety of sclerosants in the treatment of venous malformations: A network meta-analysis of randomized controlled trials

Background:Venous malformations(VMs)are the most common low-flow vascular malformations.Although various sclerosants are effective,their relative effects have not yet been well established.Methods:We searched the PubMed,Embase,Cochrane Library,Scopus,and Web of Science databases for randomized clinical trials up to April 1,2021.We estimated odds ratios using pairwise analysis and network metaanalysis(NMA)with random-effects.We calculated the surface under the cumulative ranking curve for each treatment and performed a cluster analysis.Results:A total of 22 randomized clinical trials(1805 patients)comparing 11 different therapeutic regimens were identified.Polidocanol foam and ethanol showed significant improvement in VMs compared with bleomycin and sodium morrhuate,while polidocanol foam and polidocanol combined with bleomycin were significantly superior to ethanol and sodium morrhuate in terms of safety.Bleomycin foam was ranked as the most effective treatment;however,the evidence stems from one small study,and most comparative effect estimates were not statistically significant.Ethanol ranked second only to bleomycin foam in terms of its efficacy.The surface under cumulative ranking curve(SUCRA)cluster analysis demonstrated that bleomycin,polidocanol,polidocanol foam,bleomycin combined with dexamethasone,and polidocanol combined with bleomycin were the five treatments with higher SUCRA values for both outcomes compared with those of the second group of sodium morrhuate and sodium tetradecyl sulfate.The last cluster included only ethanol,which was characterized by relatively good efficacy and obvious side effects.Conclusion:Polidocanol foam and ethanol are more effective than bleomycin and sodium morrhuate in treating VMs,whereas ethanol and sodium morrhuate are associated with obvious adverse effects.

Pingyangmycin Pretreatment Influences the Biological Behavior of Ocular Venous Malformation and Relates with Galectin-3 Expression

Background：Galectin-3 （Gal-3） plays a role in the mechanisms underlying ocular venous malformation.We conducted this study to investigate the effect of pingyangmycin pretreatment on the Gal-3 expressions and biological behavior of ocular venous malformation.Methods：Tissue samples were collected from 136 patients with ocular venous malformation.Patients were randomly divided into pingyangmycin （n =69） and nonpingyangmycin group （n 67）.Patients in the pingyangmycin group received a local injection of 0.02% pingyangmycin once every 2 days for 2 weeks （7 doses） before removal surgery,whereas patients in the nonpingyangmycin group underwent removal surgery without local injection.The protein and messenger RNA （mRNA） expression of Gal-3 were detected by using immunohistochemistry and in situ hybridization.Results：Gal-3 protein was expressed in 35 （52%） of 67 samples in the nonpingyangmycin group and in 19 （28%） of 69 samples in the pingyangmycin group （P 〈 0.05）.Gal-3 mRNA expression was detected in 39 （58%） of 67 samples in the nonpingyangmycin group and 22 （32%） of 69 samples in the pingyangmycin group （P 〈 0.05）.The higher Gal-3 expressions were detected in samples with deeper invasiveness than those with superficial invasiveness before （χ^2=12.720 and 13.369,respectively,both P 〈 0.05） and after pingyangmycin treatment （χ^2=8.429 and 4.590,respectively,both P 〈 0.05）.It was more frequently detected in mesh-like lesions with unclear boundary than round lesions with clear boundary before （χ^2= =30.291 and 41.466,respectively,both P 〈 0.05） and after pingyangmycin treatment （χ^2= =14.619 and 15.130,respectively,both P 〈 0.05）.Pingyangmycin treatment led to a significant difference in Gal-3 expressions at both protein and mRNA levels （χ^2==8.664 and 9.524,respectively,both P 〈 0.05）.Conclusions：Gal-3 expression may be involved in the development and invasiveness of ocular venous malformation,and pingyangmycin can inhibit Gal-3 expression,indicating a role of pingyangmycin treatment before the removal of ocular venous malformation.

Three-Dimensional Volumetric Analysis of Venous Malformations for Assessing the Effectiveness of Percutaneous Sclerotherapy

BACKGROUND Percutaneous sclerotherapy can be used to successfully treat venous malformations(VMs)of the head,neck,and limbs.However,the standard curative effect of sclerotherapy has rarely been analyzed,and there is currently no accurate statistical method to measure the volume of VMs after sclerotherapy.Here,we propose a novel threedimensional(3D)reconstruction method to evaluate this effect.OBJECTIVE To test the feasibility of 3D software(MIMICS 19.0)to evaluate the treatment effect of sclerotherapy.METHODS This retrospective study included patients with VMs on the head,neck,and limbs who were treated with ethanol sclerotherapy or foam sclerotherapy every 8 weeks.MIMICS 19.0 was used to calculate the performance of the lesion after treatment and measure the VM volumes before and after the treatment.The effect of the clinical treatment dose on the lesion was evaluated,and the treatment effect of each patient was recorded.The relationship between the number of treatments and the reduced volume of VMs was analyzed.RESULTS Based on the MIMICS-calculated regions of interest(ROI),we found that 1 mL of ethanol reduced the lesion by 473 mm3 and that one dosage of foam(1 mL of polidocanol and 4 mL air content)reduced the lesion by 2138 mm3,demonstrating that the foam sclerosing agent exhibited greater efficacy in this study.CONCLUSIONS The MIMICS 3D volume reconstruction method can effectively and safely evaluate the efficacy of sclerotherapy and provide a preoperative evaluation.This method is simple,accurate,and feasible.

Diagnosis and treatment of venous malformations in China: consensus document

Venous malformations(VMs) are the most common vascular developmental anomalies. There are many controversies over VMs in Chinese clinical medical practice. Experts on the panel from vascular-anomaly centers in China reviewed the etiology, pathophysiology, epidemiology, classification, clinical presentations, diagnosis, and treatment of VMs. The aim of this consensus document is to provide recommendations for, and assist clinicians and patients in, the diagnosis and treatment of VMs.

Diagnosis and management of venous malformations: An overview

Venous malformations pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, most clinicians have limited experience in their diagnosis and management, which augments the enormity of the problem and can lead to misdiagnoses, inadequate treatment, high complication rates, and poor patient outcomes. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is used. The occasional embolizer will never gain enough experience to treat these problematic lesions adequately. More importantly, when complications do occur, the morbidity of that complication is worsened because of this lack of experience and the absence of an experienced team of physicians. All too frequently, the patient ultimately pays for a physician's initial enthusiasm, inexperience, folly, and lack of necessary clinician backup. A cavalier approach to the management of venous malformations will always lead to significant complications and dismal patient outcomes. These patients should be referred to centers that regularly treat vascular malformations, appropriately manage complications in a timely manner, and routinely deal with the dilemmas they present. Only in this fashion can significant experience be gained, improved judgment in managing these lesions develop, and definitive appropriate statements in the treatment of vascular anomalies evolve.

Painless swollen calf muscles of a 75-year-old patient caused by bilateral venous malformations

A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reported a bilateral painless swollen calf muscle without traumatic cause, and also without any pain at night, fever or medical illness. On physical examination the soleus muscle had a swollen aspect in both calfs. The skin appeared normal without deformities and the arterial pulsations were intact. An X-ray did not show abnormalities in the tibia. Magnetic resonance imaging of the legs revealed bilateral multiple saccular intramuscular venous malformations involving the soleus muscle. Intramuscular venous malformations in skeletal muscles are rare, especially when the occurrence is bilateral. Bilateral venous malformations have the potential to be missed because of the intramuscular localization. Symptoms of intramuscular venous malformation can be often mild and overlap with nonexercise related compartment syndrome, claudication, lymphedema and post thrombotic syndrome or muscle strains.

Congenital retinal macrovessel with intracranial venous malformation in a pediatric patient: a case report

Dear Editor,Congenital retinal macrovessel (CRM) is defined as an abnormal large retinal vessel that encircles the foveal avascular zone (FAZ).Since the first description of a large aberrant vessel crossing the macula by Mauthnerin 1868,there have been several case reports about CRM.And recently,Pichi et alreported clinical manifestations and multimodal retinal imaging of 49 eyes with CRM.In their study,they had identified an association between macrovessel in the retina and venous anomalies of the brain and they emphasized the importance of systemic workups including brain magnetic resonance imaging (MRI).

Use of the LigaSure^TMin Cervicofacial Venous Malformation Excision

Complete surgical excision of venous malformations (VMs) is frequently complicated by massive bleeding and nerve damage, particularly in the cervicofacial area. This report describes a novel technique for the resection of cervicofacial VMs using the LigaSureTM (Valleylab, Tyco International Healthcare, Boulder, CO) vessel sealing system. We report three cases of VM excision using this vessel sealing system, and recorded intraoperative and postoperative blood loss, operative time, and postoperative complications. In all cases employing the LigasureTM, perioperative blood loss was less than 600 ml, no patients developed postoperative hematomas or other bleeding complications, and no patients developed a facial palsy even if the VM was located close to the facial nerve. LigaSureTM provides excellent hemostasis with few complications when used for cervicofacial VMs.

Gastric arterio-venous malformation emerging from splenic artery

In this case report, we present a patient who suffered from gastrointestinal bleeding. The bleeding source was a gastric arterio-venous malformation emerging from the splenic artery. Attempts to stop the bleeding failed and therapeutic angiography succeeded in occluding the vessel. A search at the literature has not yielded any other case report describing this anatomical anomaly.

Percutaneous coil embolisation of congenital hepatic arteriovenous malformations in two patients with congenital heart disease and review of the literature

Congenital hepatic arterio-venous malformations (AVM) are rare vascular anomalies and have rarely been reported in the presence of congeni-tal heart disease. The reported cases are mostly hemangiomas fed either by the hepatic artery itself or by one of its branches. We present two unique hepatic AVM cases in the presence of congenital heart defects in which the AVM was not fed by the hepatic arterial system. Transcatheter coil embolisation was successfully carried out in both of them by using non-detachable Gianturco coils. Complete occlusion was achieved without any sequel.

Treatment of venous malformations (VM): The cutting edge knowledge

Venous malformations (VMs) are problematic common vascular malformations that are challenging even for experienced physicians. Several treatments are available including sclerotherapy, surgery, laser or combinations of these procedures. As none of these is specific, we still need therapies that would allow to cure these patients without complications. Hopefully, the unraveling of the causative defects of VMs will give us new tools for the management of this difficult condition.

Effect of Electrochemotherapy in Treating Patients with Venous Malformations

Objective： To evaluate the efficacy and safety of electrochemotherapy in treating venous malformations. Methods： Electrochemotherapy was applied to 665 patients with venous malformations of limbs and trunk, and 505 cases were followed up for half to 6 years. In this study, 228 male and 277 female patients were involved. Diagnosis was made by clinical manifestations and magnetic resonance imaging. The platinum electrodes were inserted into tumor through a trocar with plastic insulating cannula percutaneously and connected with the electrochemical therapeutic apparatus in anodes and cathodes separately. Then electricity was given. The treating voltage is 6-12 V and volume 100-180 mA, the total electricity used is in general 80-100 coulombs per 1.0 square centimeter of tumors＇ area. The treating time was usually from several dozen minutes to over 2 h depending on the size of the tumor. The severe cases which needed to be treated once again usually were operated after 6 months. Results： The primary efficacy end point was defined as an improvement of patients＇ symptoms and a reduction in size of tumor 6 months after treatment. Effects were divided into 4 grades, and the efficacy rate decreased from grade 1 to grade 4. The efficacy turned out that 30.1% （152/505） of patients was classified as grade 1; 46.3% （234/505） as grade 2; 19.0% （96/505） as grade 3 and 4.6% （231505） as grade 4. Conclusions： Electrochemotherapy shows special superiorities in treating venous malformations. It might bring a confirmed clinical efficacy with the advantages of less injury, quick recovery, simple operation and less complications.

Classification and treatment of orbital venous malformations: an updated review

Orbital venous malformation (OVM) is a congenital vascular disease. As a common type of vascular malformation in the orbit, OVM may result in vision deterioration and cosmetic defect. Classification of orbital vascular malformations, especially OVMs, is carried out on the basis of different categories, such as angiogenesis, hemodynamics, and locations. Management of OVM is complicated and challenging. Treatment approaches include sclerotherapy, laser therapy, embolization, surgical resection, and radiotherapy. A satisfactory outcome can be achieved only by selecting the appropriate treatment according to lesion characteristics and following the sequential multi-method treatment strategy. This article summarizes the current classification and treatment advances in OVM.

无水乙醇、泡沫硬化剂治疗儿童大型静脉畸形的疗效比较

目的探讨无水乙醇、泡沫硬化剂治疗儿童大型静脉畸形的临床疗效。方法回顾性分析60例大型孤立性静脉畸形患儿的临床资料。将先注射无水乙醇再注射泡沫硬化剂作为A组(n=30),先注射泡沫硬化剂再注射无水乙醇作为B组(n=30),对比两组患儿的临床疗效、并发症、注射次数及无水乙醇用量等。结果A、B两组的总有效率均为100%。A组显著有效率为63.33%(19/30),B组显著有效率为90%(27/30),差异有统计学意义(P<0.05)。无水乙醇用量A组为(10.30±3.19)mL,B组为(6.73±2.06)mL;注射次数A组为(3.57±1.01)次,B组为(2.63±0.61)次,差异均有统计学意义(均P<0.05)。两组均无严重并发症发生,水疱发生率A组30%(9/30),B组为6.67%(2/30),差异有统计学意义(P<0.05)。结论无水乙醇、泡沫硬化剂联合应用治疗儿童大型静脉畸形,可以增加疗效,减少无水乙醇用量,降低并发症;尤其先注射泡沫硬化剂再注射无水乙醇疗效更佳。

数字减影血管造影引导下经皮注射泡沫硬化剂治疗肢体静脉畸形的疗效及并发症处理

目的探讨数字减影血管造影(DSA)引导下经皮注射泡沫硬化剂治疗肢体静脉畸形的疗效及并发症处理。方法收集2019年6月至2021年8月暨南大学附属第一医院就诊的55例肢体静脉畸形患者的临床资料,均在DSA引导下行硬化治疗,观察术后瘤体大小变化、临床症状改善情况及并发症发生率,总结并发症的处理方案和预后情况。结果55例患者共进行了127次治疗,中位2次。治疗前后数字疼痛分级法(NRS)疼痛评分比较,差异有统计学意义(P﹤0.05)。治疗有效率为92.7%,术后出现术区肿胀、疼痛7例(12.7%),发热2例(3.6%),轻度过敏2例(3.6%),神经压迫症状2例(3.6%),1例(1.8%)肢体急性缺血症状,经积极治疗后均未发生正常组织和器官坏死、重要器官功能丧失、心肺衰竭等严重并发症。结论在DSA引导下经皮注射泡沫硬化剂治疗肢体静脉畸形安全有效,但其并发症需受到重视,尽早干预有利于减少严重不良事件的发生。

运用绵羊颈外静脉构建面颈部静脉畸形动物模型

目的:通过外科手术改建绵羊颈外静脉,初步建立面颈部静脉畸形(VMs)动物模型。方法:解剖、观察并测量5只健康成年绵羊颈外静脉的位置、走行、分支和外径。通过近心端静脉主干缝扎缩窄、远心端分支静脉结扎或缩窄等方法构建具有汇入静脉和回流静脉的VMs动物模型。术后4周,通过多普勒超声、大体观察以及组织学观察对动物模型进行评价。结果:绵羊颈外静脉位于双侧颈部侧面,主干由上颌静脉、舌面静脉汇合而成,外径为6~12 mm,平均外径9.3 mm。颈外静脉经过近心端静脉主干缝扎缩窄、远心端分支静脉结扎或缩窄处理后即刻血液回流速度减慢,模型区域静脉鼓起变粗。术后4周,大体观察见多数静脉收缩变细,部分静脉管腔内血栓形成,部分标本中心区隆起扩张,部分模型外周侧支静脉扩张。多普勒超声检查显示制备成的VMs模型静脉管腔较粗,回流静脉、汇入静脉较细,管腔内可见彩色血流。组织学观察显示静脉血管内皮及管壁结构与正常静脉接近,部分标本血管壁增厚。结论:绵羊颈外静脉构建的VMs动物模型基本符合要求,有望用于面颈部VMs治疗方法学的研究。