Venous Malformations Research Articles

A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.

Pulmonary fibrosis is a severe disease which can be familial. A genetic cause can only be found in ∼40% of families. Searching for shared novel genetic variants may aid the discovery of new genetic causes of disease. Whole-exome sequencing was performed in 152 unrelated patients with a suspected genetic cause of pulmonary fibrosis from the St Antonius interstitial lung disease biobank. Variants of interest were selected by filtering for novel, potentially deleterious variants that were present in at least three unrelated pulmonary fibrosis patients. The novel c.586G>A p.(E196K) variant in the ZCCHC8 gene was observed in three unrelated patients: two familial patients and one sporadic patient, who was later genealogically linked to one of the families. The variant was identified in nine additional relatives with pulmonary fibrosis and other telomere-related phenotypes, such as pulmonary arterial venous malformations, emphysema, myelodysplastic syndrome, acute myeloid leukaemia and dyskeratosis congenita. One family showed incomplete segregation, with absence of the variant in one pulmonary fibrosis patient who carried a PARN variant. The majority of ZCCHC8 variant carriers showed short telomeres in blood. ZCCHC8 protein was located in different lung cell types, including alveolar type 2 (AT2) pneumocytes, the culprit cells in pulmonary fibrosis. AT2 cells showed telomere shortening and increased DNA damage, which was comparable to patients with sporadic pulmonary fibrosis and those with pulmonary fibrosis carrying a telomere-related gene variant, respectively. The ZCCHC8 c.586G>A variant confirms the involvement of ZCCHC8 in pulmonary fibrosis and short-telomere syndromes and underlines the importance of including the ZCCHC8 gene in diagnostic gene panels for these diseases.

Percutaneous Sclerotherapy as Therapeutic Option in Benign Vascular Lesions: A Retrospective Study

Introduction:Sclerotherapy, a minimally invasive approach, has gained prominence as a therapeutic modality for the treatment of these lesions. The objective of this article is to assess clinical success, complications and periprocedural pain score of sclerotherapy and their variation with the nature of the lesion and choice of sclerosants. Methods: This was a hospital record-based retrospective study in a tertiary care centre in Kathmandu. Sclerotherapy done in the institute from January 2019 to December 2022 was evaluated for the nature of the lesion, clinical success, number of sessions, periprocedural pain score and complications. All sclerotherapy was performed under combined USG and fluoroscopic guidance by an interventional radiologist. Data was entered in predesigned proforma and data analysis was done using SPSS 25.0. Results: A total of 33 patients underwent 61 sessions of sclerotherapy during the study period. Venous malformation (72.2%) was the most common vascular lesion followed by hemangioma. There was significant resolution of symptoms post sclerotherapy pain relief in 95% complete resolution of swelling in 65.38 % and partial resolution with acceptable cosmetic results in 26.92% of cases. Only minor complications were seen in 6.5% of cases. The median periprocedural pain score was 5 with an interquartile range of 2. Periprocedural pain was significantly less with sodium tetradecyl sulphate than with alcohol(P-0.002). The resolution of swelling was less in hemangiomas than in other lesions, while pain relief was similar for all lesions. Complications were seen only in the alcohol group. Conclusions: Sclerotherapy is a safe and effective procedure for benign vascular lesions. Complications and periprocedural pain are less with sodium tetradecyl sulphate as compared to alcohol.

Comprehensive Management of a Giant Venous Malformation of the Lip: Vascular Embolization Followed by Surgical Resection and Reconstruction.

Venous malformations often manifest in early childhood and do not spontaneously resolve. Most vein malformations of the lips are typically treated at a young age, with giant arteriovenous malformations being particularly rare. Herein, we introduce the case of a 47-year-old man who presented to our department complaining of a progressive mass on his lower lip. Clinical examination revealed a mass measuring 10 cm × 8 cm × 4 cm in size, characterized by a soft texture and smooth edges. Despite a series of sclerotherapy interventions, the lesion remained unresponsive. Consequently, we performed a preoperative embolization of the malformed vessel using digital angiography, followed by extensive resection of the lesion and repair of the defect using an adjacent flap. The postoperative period was uneventful, and no local recurrence was observed during a 4-year follow-up period. Therefore, we recommend preoperative angioembolization as a valuable approach for addressing large lower lip deformities to enable extensive surgical resection and robust therapeutic outcomes.

Role of Contrast-Enhanced MRI in Diagnosing Brain Metastases in Patients With Lung Cancer

Introduction: Lung cancer is one of the most common cancers in the world. Approximately 40% of all metastases make up brain metastases that occur in 3% of patients at early stages of lung cancer. Early diagnosis of brain metastases directly affects patients’ survival and quality of life.Objective: To study the role of contrast-­enhanced magnetic resonance imaging (MRI) in detecting brain metastases at the outpatient stage in patients with newly diagnosed and histologically confirmed lung cancer and to compare the findings to that of computed tomography (CT).Materials and methods: Our study was conducted at the premises of the Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1 (Krasnodar, Russian Federation) between November 2022 and January 2023. Seventy­five patients with histologically confirmed lung cancer underwent brain MRI on a Philips Panorama 1.0T MRI scanner and intravenous administration of Clariscan to detect metastatic lesions. As a diagnostic method, we used a “short” scanning protocol in T1­-WI (TR: 450, TE: 15, slice thickness 5 mm), T2­-WI (TR: 4533, TE: 100, slice thickness 5 mm) and DWI (TR: 3712, TE: 97, slice thickness 5 mm) modes in the axial plane, then the Clariscan contrast agent was injected intravenously at the rate of 0.2 ml per 1 kg of the patient's weight, after which the scan was repeated using 3D T1 (TR: 450, TE: 15, slice thickness 1 mm).Results: The average age of the patients was 60 years. The majority of the participants were male. Of all the patients, the majority had central lung cancer (57.3%). During contrast-­enhanced brain MRI, brain metastases that accumulated a contrast agent in 100% of cases were detected in 30 patients (40%) of the total number of patients. In 7% of the patients, there were non-­metastatic findings undetected by prior contrast­-enhanced CT, such as pontine cavernoma and venous malformations. After MRI for brain metastases, management strategies changed in 30 (40%) patients.Discussion: Contrast-­enhanced MRI is one of the most effective methods for diagnosing metastatic lesions. It allows to localize brain metastases and helps the clinician choose the most effective management strategy. The introduction of contrast­-enhanced brain MRI into routine medical practice could improve the accuracy and quality of brain metastasis detection in patients with lung cancer.

Hemangiomatosis of the spleen in a patient with Klippel-Trenaunay syndrome: A case report.

Hemangiomatosis of the spleen is a benign vascular condition occurring as a manifestation of systemic angiomatosis. It is usually associated with Klippel-Trenaunay syndrome (KTS), which is a rare congenital malformation characterized by a triad of varicose veins, bony and soft tissue hypertrophy, and cutaneous and visceral hemangiomas and/or venous malformations. The association of splenic hemangiomatosis with KTS is less documented in the literature. In this report, we describe a 63-year-old female who presented with massive splenomegaly, the histopathology of which showed features of diffuse hemangiomatosis. Based on the histopathological diagnosis, a retrospective evaluation of the patient was carried out and she was diagnosed as KTS. To the best of our knowledge, this is the first report in the Indian literature describing splenic hemangiomatosis in a patient with KTS.

Prenatal Ultrasound Diagnosis of Klippel-Trenaunay Syndrome.

Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel-Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The cystic lesions were spreading to the left buttock and the pelvic area. The right leg and upper limbs had normal appearance with good mobility. There were no signs of hyperdynamic circulation or foetal anaemia, but mild polyhydramnios was associated. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved.

Management of congenital urogenital and perineal vascular malformations: correlation of clinical findings with diagnostic imaging for treatment decision.

Analysis of clinical and diagnostic findings in rare urogenital and perineal vascular malformations only occurring in 2-3 % of vascular anomalies with regard to clinical symptoms and treatment decisions. All 25 out of 537 patients presenting with congenital urogenital and perineal vascular malformations at our institution from 2014 to 2021 were included. Vascular anomaly classification, anatomical location, clinical symptoms at presentation, diagnostic imaging, and pain intensity were retrospectively assessed from the patient record and therapy management was evaluated. In total, 25 patients (10 females (40 %), 15 males (60 %)), aged 6 to 77 years were included. Diagnoses were: 10 (40 %) venous malformations (VMs), 5 (20 %) lymphatic malformations (LMs) and 10 (40 %) arteriovenous malformations (AVMs). Malformation manifestations were: 12 (32 %) lesser pelvis, 12 (32 %) external genitalia, and 13 (34 %) perineal/gluteal region. One AVM was located in the kidney. The leading clinical symptom was pain. The mean intensity was 6.0/10 for LM, 5.7/10 for VM, and 4.5/10 for AVM. Further major symptoms included physical impairment, local swelling, and skin discoloration. Bleeding complications or sexual dysfunction were rare findings. Patients with VM reported significantly more symptoms than patients with AVM (p = 0.0129). In 13 patients (52 %) minimally invasive therapy was indicated: 10 (77 %) sclerotherapies and 3 (23 %) transcatheter embolization procedures. Complete symptomatic remission was achieved in 9 (69 %) patients, partial response in 3 (23 %) patients, and 1 patient showed no clinical response to therapy. Follow-up appointments without the need for immediate minimally invasive therapy were significantly more common in patients with AVMs than in patients with VMs (p = 0.0198). To create a higher awareness of congenital urogenital and perineal vascular malformations. Awareness of this rare condition avoids misdiagnosis. Therapy decisions should be symptom-oriented. Emergency intervention is rarely required, even in fast-flow vascular malformations. · Venous malformations cause more symptoms with higher pain intensity than arteriovenous malformations.. · Diagnosis and adequate treatment can be hampered by a lack of awareness of the clinical presentation.. · Bleeding complications are rare, even in high-flow vascular malformations.. · Pain and physical impairment are the most commonly observed symptoms in these patients..

Comprehensive Characterization of Coagulation Parameters in Venous Malformations

Introduction: Localized intravascular coagulopathy (LIC) is a well-recognized, though poorly characterized complication of venous malformations (VM) that can lead to bleeding, thrombosis, and phlebolith formation. While LIC has classically been characterized by elevations in D-dimer and reductions in fibrinogen, no comprehensive studies of coagulation parameters in VM have been performed to date. Since 2021, all patients with VM undergoing evaluation for LIC in the Yale Vascular Malformations Program (VaMP) and the Yale Classical Hematology clinic have been subjected to an extensive set of coagulation tests to fully analyze LIC. Our aim was to use these laboratory test results to comprehensively characterize LIC in this population. Methods: We conducted a retrospective chart review of all VM patients presenting to the Yale VaMP and the Yale Classical Hematology clinic for assessment of LIC from 2021 to 2023. All included patients were evaluated for LIC using the following coagulation parameters: von Willebrand Factor (VWF) antigen, VWF activity, factor VIII (FVIII), alpha-2 antiplasmin (A2AP), plasminogen activator inhibitor-1 (PAI-1), thrombin-antithrombin complex (TAT), D-dimer (DD), fibrinogen, prothrombin time (PT), international normalized ratio (INR), and partial thromboplastin time (PTT). Measurements of VWF antigen, VWF activity, FVIII and A2AP were performed using an ACL TOP system (Instrumentation Laboratory; Bedford, MA, USA), while D-dimer and fibrinogen were measured using a BCS XP System (Siemens; Malvern, PA, USA) at our institution's clinical laboratory. PAI-1 and TAT were processed at national Clinical Laboratory Improvement Amendment-certified reference laboratories using ELISA-based assays. Baseline patient characteristics and coagulation test results were extracted via manual chart review. Data analysis was done using IBM SPSS statistics software and GraphPad Prism 9 software. Categorical variables were described using frequency and percentages, while quantitative variables were described using central tendency and dispersion measures. We performed univariate analysis using the Chi-square test. We also analyzed the coagulation tests using a correlation matrix. Statistical significance was set at p<0.05. This project was approved by our Institutional Review Board. Results: A total of 23 patients with VM were included in the analysis (Table 1). The mean age was 38 ± 16 years; the majority (82.6%) were female. The most common anatomic location was the head and neck (52.2%), while the most frequent extent of tissue involvement was muscle (54.5%), with most patients having a single lesion (59.1%) rather than multiple ones. No patients had venous thromboembolism. Normal DD and high TAT levels were observed in most patients (68.2% and 69.6%, respectively). VWF activity, VWF antigen, FVIII, PAI-1, and fibrinogen all were positively correlated (Figure 1). TAT was positively correlated with PAI-1 and inverselycorrelated withPT and INR. DD was positively correlated only with vWF activity. TAT and DD had a poor correlation; among patients with a normal TAT (n=7), 85.7% had a normal DD, while among patients with a normal DD (n=15), only 40% had a normal TAT. Three out of 4 (75%) patients with skin involvement had a high TAT with normal DD, while 2 out of 3 (66.7%) patients with visceral involvement had both high TAT and DD, although these patternswere not statistically significant (P=0.42 and 0.31, respectively). Among patients with muscle involvement (n=11), 45.5% had a high TAT and normal DD while 36.3% had both high TAT and DD. Conclusions: In this first comprehensive hematologic study of VM, we demonstrate that VM-related LIC is characterized by derangements of multiple coagulation parameters. Due to this, measurements of DD and fibrinogen alone may be inadequate for assessing LIC, and the addition of TAT and multiple other coagulation tests may yield a more complete picture of hemostatic derangements in LIC. A lack of correlation between DD and TAT is unexpected and merits further study. Differences in the depth of the VM tissue involvement and TAT/DD correlation may indicate a progression of coagulopathy related to the extent of VM but require further investigation in a larger study.

Mechanism of LEF1-AS1 regulating HUVEC cells by targeting miR-489-3p/S100A11 axis.

The venous malformation is the most common congenital vascular malformation and exhibits the characteristics of local invasion and lifelong progressive development. Long noncoding RNA (lncRNA) regulates endothelial cells, vascular smooth muscle cells, macrophages, vascular inflammation, and metabolism and also affects the development of venous malformations. This study aimed to elucidate the role of the lncRNA LEF1-AS1 in the development of venous malformations and examine the interaction among LEF1-AS1, miR-489-3p, and S100A11 in HUVEC cells. Venous malformation tissues, corresponding normal venous tissues, and HUVEC cells were used. Agilent human lncRNA microarray gene chip was used to screen differential genes, RNA expression was detected using quantitative reverse transcription PCR, and protein expression was detected using Western blotting. The proliferation, migration, and angiogenesis of HUVEC cells were assessed using CCK8, transwell, and in vitro angiogenesis tests. A total of 1,651 lncRNAs were screened using gene chip analysis, of which 1015 were upregulated and 636 were downregulated. The lncRNA LEF1-AS1 was upregulated with an obvious difference multiple, and the fold-change value was 11.03273. The results of the analysis performed using the StarBase bioinformatics prediction website showed that LEF1-AS1 and miR-489-3p possessed complementary binding sites and that miR-489-3p and S100A11 also had complementary binding sites. The findings of tissue experiments revealed that the expressions of LEF1-AS1 and S100A11 were higher in tissues with venous malformations than in normal tissues, whereas the expression of miR-489-3p was lower in venous malformations than in normal tissues. Cell culture experiments indicated that LEF1-AS1 promoted the proliferation, migration, and angiogenesis of HUVEC cells. In these cells, LEF1-AS1 targeted miR-489-3p, which in turn targeted S100A11. LEF1-AS1 acted as a competitive endogenous RNA and promoted the expression of S100A11 by competitively binding to miR-489-3p and enhancing the proliferation, migration, and angiogenesis of HUVEC cells. Thus, LEF1-AS1 participated in the occurrence and development of venous malformation. The expression of LEF1-AS1 was upregulated in venous malformations, and the expression of S100A11 was increased by the adsorption of miR-489-3p to venous endothelial cells, thus enhancing the proliferation, migration, and angiogenesis of HUVEC cells. In conclusion, LEF1-AS1 is involved in the occurrence and development of venous malformations by regulating the miR-489-3p/S100A11 axis, which provides valuable insights into the pathogenesis of this disease and opens new avenues for its treatment.

Late side effects of bleomycin injection into the lower lip mucosa of a nine-year-old patient with venous malformation.

Venous malformation (VM) is a benign lesion of blood vessels caused by an error in vascular morphogenesis during the embryologic phase. This entity mostly affects the head and neck region, including the lips, tongue, buccal mucosa, gingiva, or palate. VM may cause functional and aesthetic impairments. The anatomical structure and shape of the lips provide an important aesthetic accent for an individual. Therefore, management of VM in the lip area without postoperative defects or scarring is challenging. In this brief communication article, we present a conservative approach to lip VM in a nine-year-old boy using a bleomycin injection that had good aesthetic and functional outcomes. Injection of 2 mL of 1/10 of 15 mg bleomycin in a saline dilution into the lip mucosa may present a drug reaction as a white plaque and reddish owl eye lesion that takes up to three weeks to resolve without a scar. It is important to recognize the characteristics and self-limiting nature of postoperative bleomycin complications to avoid unnecessary treatment.

Overview of peripheral arteriovenous malformations: From diagnosis to treatment methods

Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018, vascular malformations (VMs) can be categorized into simple, combined VMs of major named vessels, and VMs associated with other anomalies. Simple VMs include lymphatic, venous, capillary, and arteriovenous malformations (AVMs). AVMs represent disorders of direct arteriovenous shunts caused by the absence of a capillary bed between the involved arteries and veins. This abnormal vascular communication causes arterial blood to accumulate in the venous vessels, thus resulting in venous hypertension and characteristic clinical manifestations, such as pulsation, tremors, and elevated temperature. AVMs can occur sporadically or as manifestations of syndromic lesions and are considered among the most complex and challenging VMs. The diagnosis and treatment of AVMs can vary depending on the lesion location and associated clinical symptoms, thus complicating their management. Herein, we discuss peripheral AVMs in terms of their clinical manifestations, imaging examinations, and staging systems to provide a comprehensive reference for the treatment, evaluation methods, and follow-up procedures for this vascular anomaly.

Effectiveness of polidocanol sclerotherapy in alleviating symptoms in patients with venous malformations

ObjectiveThe objective of this study was to retrospectively evaluate the effectiveness of polidocanol in managing pain, swelling, functional limiting and cosmetic disorders in patients with venous malformations (VMs). MethodsThis retrospective study included patients who underwent sclerotherapy with polidocanol for VMs between 2020 and 2022. Patient records, imaging findings, and evaluation questionnaires used in the preprocedure and follow-up phases were reviewed. After sclerotherapy, patients were followed up at 1, 2, 3, and 6 months. During these visits, the previously used 11-point verbal numerical rating scale (from 0 [no pain] to 10 [worst pain thinkable]) was used to evaluate the severity of symptoms such as pain, swelling, cosmetic discomfort, and functional limitation, and patients were asked to report the number of days per week they experienced these symptoms owing to the VM. ResultsA total of 194 sclerotherapy procedures (mean, 1.6 ± 0.3 procedures) in 84 patients (55 female and 29 male patients; mean age, 22.45 ± 11.83 years) were conducted. The majority of these malformations (81%, or 68 patients) were located in the extremities. We found a significant decrease in pain, swelling, functional limitation, cosmetic appearance, and number of painful days between all time points, except for the comparison between months 3 and 6 (P < .001) ConclusionsPolidocanol sclerotherapy is a safe and effective treatment for VMs that significantly decreases patient complaints and has a very low complication rate. Particularly, following patients at short intervals and administering additional sclerotherapy sessions when necessary will significantly increase patient satisfaction.

Comparison of bleomycin polidocanol foam vs electrochemotherapy combined with polidocanol foam for treatment of venous malformations

ObjectiveThis study aims to investigate the difference in safety and efficacy between two treatments for venous malformations (VMs), electrochemotherapy combined with polidocanol foam (ECP) and bleomycin polidocanol foam (BPF), providing alternative therapies for VMs. MethodsWe conducted a retrospective review of 152 patients with VMs treated with ECP and BPF. Pre- and post-treatment magnetic resonance images (MRIs) were collected, and clinical follow-up assessments were performed. Imaging results were used to calculate lesion volume changes. Clinical outcomes included changes in pain and improvements in perceived swelling. Patients were followed up at 1 week and 6 months after surgery. All emerging complications were documented in detail. ResultsOf the 152 patients, 87 (57.2%) received BPF treatment, and 65 (42.8%) received ECP treatment. The most common location of VMs was the lower extremities (92/152; 60.2%), and the most common symptom was pain (108/152; 71.1%). Forty-three patients had previously undergone therapy in the BPF group (43/87; 49.4%), whereas 30 patients had received prior treatment in the ECP group (30/65; 46.2%). The study found that the percentage of lesion volume reduction in the BPF group was not significantly different from that in the ECP group (75.00% ± 17.85% vs 74.69% ± 8.48%; P = .899). ECP was more effective when the initial lesion volume was greater than 30 mL (67.66% ± 12.34% vs 73.47% ± 8.00%; P = .048). Patients treated with BPF had significantly less posttreatment pain than those treated with ECP, in different baseline lesion size. In the overall sample, pain relief was significantly higher in the BPF group than in the ECP group (4.21 ± 1.19 vs 3.57 ± 0.76; P = .002). However, there was no difference in pain relief between the two groups for the treatment of initially large VMs (4.20 ± 0.94 vs 3.70 ± 0.87; P = .113). The ECP group was significantly more likely to develop hyperpigmentation (5/87; 5.75% vs 11/65; 16.92%; P = .026) and swelling (9/87; 10.34% vs 16/65; 24.62%; P = .019) 1 week after surgery than the BPF group. ConclusionsOur study demonstrates that both BPF and ECP are effective treatments for VMs, with BPF being a safer option. ECP is a better choice for patients with the initial lesion volume greater than 30 mL, but it is more likely to lead to early swelling and hyperpigmentation.

Therapeutic evaluation and analysis of complications of ethanol sclerotherapy for intramuscular vascular malformations: a single-center retrospective study.

Intramuscular venous malformations (IMVMs) can cause pain and contracture deformity, leading to dysfunction of limbs. Ethanol sclerotherapy is one of the main treatments for IMVMs. This study aims to evaluate the efficacy and the complications associated with intravascular ethanol sclerotherapy for IMVMs and to provide a comprehensive summary of clinical experiences for future reference. A retrospective analysis was conducted on a cohort of 118 patients diagnosed with IMVMs who were treated with ethanol sclerotherapy in our center between 2006 and 2021. The plastic surgeons utilized a standardized collection pro forma to record the clinical data. Furthermore, a follow-up period ranging from 6 months to 5 years was implemented to assess the relief of symptoms, the change of lesion size, and the recovery of functional outcomes. In addition, an analysis of long-term complications was conducted. The clinical symptoms of the patients in this group included pain, swelling, and limited movement. On average, 5.61 mL (range 2-14 mL) of ethanol was used during the sclerotherapy procedure. The intraoperative and early postoperative complications were successfully relieved by means of timely intervention, as observed during the follow-up period. Based on the MRI results, the sizes of the lesions in 19% of the cases were significantly decreased, while a slight decrease was observed in 39% of the cases. During the follow-up period, it was found that only eight out of the 118 patients included in this study experienced long-term complications related to sclerotherapy. Although ethanol sclerotherapy has proven to be an effective first-line treatment for IMVMs, it is associated with a variety of adverse reactions and short- and long-term complications. Surgeons are required to perform operations prudently and provide timely medical intervention for postoperative complications.

The risk of muscle involvement in focal venous malformations in children.

Venous malformations (VMs) are the most common vascular malformations, which can be classified as focal, multifocal, or diffuse types. But the risk of focal venous malformations with muscle involvement is not well defined. This is a single-center, retrospective review of patients treated for focal VMs between February 2021 and February 2022. We assessed 26 patients focal VMs with 47 lesions; 18 (69%) were unifocal, 3 (12%) were dual-focal, and 5 (19%) were multifocal type VMs, and 29 (62%) were intramuscular VMs. The lower limbs intramuscular VMs had a significantly elevated risk of focal VMs (relative risk [RR],1.7; 95% confidence interval [CI], 1.148-2.394). Intramuscular involvement of the body should be considered in focal VMs. The lower limbs intramuscular VMs had a significantly elevated risk of focal VMs.

Paraplegia caused by intraspinal venous malformation secondary to iliac vein occlusion

Paraplegia caused by intraspinal venous malformation secondary to iliac vein occlusion

The Stability of Physician-Compounded Foam is Influenced by the Angle of Connector

Foam sclerotherapy is an effective treatment for varicose veins and venous malformations, with its efficacy influenced by foam stability. The methods for preparing physician-compounded foam (PCF) are the double syringe system (DSS) and Tessari method. Few studies have been performed to compare the PCF stability produced by the 2 methods and their mechanisms. We aim to compare the stability of PCF produced by 2 two methods in the same connector and explore the reasons for the difference. Foam was generated by the 2 methods under different circumstances. In the Tessari method, 2 syringes were connected at right angles (90°) by a 3-way tap. In the DSS method, 2 syringes were connected by the same 3-way tap in a straight line (180°). The stability and uniformity of foam produced by the 2 methods were compared using foam half-time and optical microscopy, respectively. Assuming that the difference in foam stability between the 2 methods was related to the angles of a connector, we compared the foam stability when 2 syringes were connected with a plastic connector bent to different angles. The DSS method could produce more uniform foam with longer foam half-time than the Tessari method, which was related to the angle of the connector. The stability of PCF is influenced by the angle of the connector.

Venous malformation as a rare cause of sciatic neuropathy

Sciatic neuropathy is rare and difficult to diagnose in pediatrics and often associated with difficult to control neuropathic pain. The most common causes of sciatic nerve damage in children include trauma and iatrogenic lesions, less often the cause is tumor and vascular formations, among which intraneural venous malformations are the rarest. We present a clinical case of a 13-year boy suffered from right sciatic pain neuropathy with unexpressed neuropathic pain syndrome, asymmetry of the feet, scant impairment of motor and sensory function of the limb for five years, which changed the gait. Neurophysiological testing showed possible location of the process, an asymmetry of sensory and motor responses when testing the nerves of the legs, and abnormal EMG in sciatic-innervated muscles. The magnetic resonance imaging (MRI) showed focal enlargement of the right sciatic nerve in the pelvic region with enhancement upon administration of contrast. Due to the presence of pain in the limb and its forced position — bent at the knee joint, surgical treatment — endoneural neurolysis in combination with targeted therapy by immunosuppressant, was chosen as a therapeutic strategy. The histological study of the intraneural formation confirmed the presence of a venous malformation (VM) in the form of heterogeneous thick– and thin-walled vascular cavities by the presence of fibrosis and lymphocytic infiltration. The result of the treatment was the relief of neuropathic pain syndrome and the recovering of the child gait.

Glomuvenous malformation: a clinicopathological analysis of 31 cases

Objective: To investigate the clinicopathological features of glomuvenous malformation (GVM). Methods: Thirty-one cases of GVM diagnosed at the Henan Provincial People's Hospital from January 2011 to December 2021 were collected. Their clinical and pathological features were analyzed. The expression of relevant markers was examined using immunohistochemistry. The patients were also followed up. Results: There were 16 males and 15 females in this study, with an average age of 11 years (range, 1-52 years). The locations of the disease included 13 cases in the limbs (8 cases in the upper limbs, 5 cases in the lower limbs), 9 cases in the trunks, and 9 cases in the foot (toes or subungual area). Twenty-seven of the cases were solitary and 4 were multifocal. The lesions were characterized by blue-purple papules or plaques on the skin surface, which grew slowly. The lumps became larger and appeared to be conspicuous. Microscopically, GVM mainly involved the dermis and subcutaneous tissue, with an overall ill-defined border. There were scattered or clustered irregular dilated vein-like lumens, with thin walls and various sizes. A single or multiple layers of relatively uniform cubic/glomus cells were present at the abnormal wall, with scattered small nests of the glomus cells. The endothelial cells in the wall of abnormal lumen were flat or absent. Immunohistochemistry showed that glomus cells strongly expressed SMA, h-caldesmon, and collagen IV. Malformed vascular endothelial cells expressed CD31, CD34 and ERG. No postoperative recurrence was found in the 12 cases. Conclusions: GVM is an uncommon type of simple venous malformation in the superficial soft tissue and different from the classical glomus tumor. Morphologically, one or more layers of glomus cells grow around the dilated venous malformation-like lumen, which can be combined with common venous malformations.

Ultrasonographic findings in nevus lipomatosus cutaneous superficialis: What differentiates this tumor from other soft tissue tumors?

Nevus lipomatosus cutaneous superficialis is a rare, benign hamartoma characterized by mature adipocyte proliferation in the dermis. It is frequently difficult to distinguish clinically from soft tissue tumors, including lipoma, neurofibroma, venous malformation, and angiolipoma. Notably, the classical form, which shows multiple and sometimes enlarged nodules, is difficult to differentiate from liposarcoma based on clinical examination, computed tomography, and magnetic resonance imaging findings. Therefore, to ascertain the utility of ultrasonography in diagnosing nevus lipomatosus cutaneous superficialis, sonographic examinations were performed on eight patients with nevus lipomatosus cutaneous superficialis. All patients had ill-defined hyperechoic masses in the dermis or from the dermis to the subcutis, and the posterior echoes were attenuated in seven patients. Color Doppler sonography revealed no blood flow to the lesions. Ultrasound images were created using the reflections of ultrasound waves at interfaces with different acoustic impedances. Therefore, it is assumed that, in nevus lipomatosus cutaneous superficialis, the ultrasound beam is scattered by ectopic mature adipocytes intermingled with collagen bundles, which are shown as hyperechoic masses. Furthermore, the scattering of the ultrasound beam is thought to reduce tissue penetration, which may attenuate the posterior echo.