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.

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.

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.

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.

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.

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.

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.

Vascular tumors and malformations of the colon

The term "hemangioma" refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrectly called "cavernous hemangioma". Venous malformations comprise abnormally formed channels that are lined by quiescent endothelium. Accurate diagnosis is required for selecting the appropriate treatment.

Analysis and Treatment of Multiple Severe Venous Vascular Malformation Syndrome Combined with Coagulopathy

According to a new international classification of vascular lesions, venous vascular malformation has become the most common type of congenital vascular malformation. A characteristic of this disease is its life-long progressive development, which is the main cause of harm to health and is different from hemangioma. Severe hemangioma with thrombocytopenia （Kasabach-Merritt syndrome） is often encountered in children, especially in infants younger than 1 year old. Coagulation abnormalities in Kasabach-Merritt syndrome are mainly caused by increased platelet destruction. Whereas, severe venous malformation-associated coagulopathy is attributed to the depletion of coagulation substances and extensive intravenous coagulation, and it occurs in adults. In principle, surgery is required.

Hemispheric developmental venous anomaly draining into a vein of Galen varix:a case report and literature review

Background:Developmental venous anomaly (DVA),previously known as 'venous angioma',is the most common cerebral vascular malformation,but hemispheric DVA is extremely rare.Case presentation:In this article we present a 21-year-old female with a large DVA draining the whole left hemisphere,combined with a vein of Galen varix and falcine sinus.To our knowledge,only 4 cases of hemispheric DVA have been reported before,however,none with a vein of Galen varix.This patient's digital subtraction angiography also revealed double straight sinus with severe stenosis of one of the sinuses,which was considered to be the possible reason of the venous varix.The patient was managed conservatively,and her clinical status was stable for 1 year.Conclusions:Because brain DVA drains the normal cerebral parenchyma and the hemorrhage risk is relatively low,hemispheric DVA is considered to be a benign anomaly,and conservative treatment is recommended.