Venolymphatic Malformation Research Articles

Identifying Genetic Mutations in Vascular Anomalies Using a Sequencing Panel for Childhood Cancers: A Pilot Study

Introduction: Genetic mutations have been identified in the pathogenesis of vascular anomalies. Due to overlaps in genetic variants causing vascular anomalies and cancer, we used a next-generation sequencing panel for genomic profiling of childhood cancers to detect somatic mutations in children with vascular anomalies. We aim to review the utility of an oncology panel for the molecular diagnosis of vascular anomalies. Methods: Nine patients with histologically confirmed vascular anomalies were included. DNA was extracted from formalin-fixed paraffin-embedded tissue specimens obtained from affected tissue following diagnostic punch biopsies of the skin and core biopsies of the vascular malformation or tumor during sclerotherapy or surgical excision. Molecular analysis of the tissue samples was performed using AmpliSeq for Childhood Cancer DNA Assay Panel. Results: Two patients had antenatally detected vascular anomalies. The median age at diagnosis for the remaining patients was 7.0 years (IQR, 0.6–10.0 years). Seven were diagnosed with vascular malformations, while 2 had vascular tumors. Pathological somatic mutations were identified in 4 patients, leading to a diagnostic yield of 44.4%. Two different PIK3CA mutations were identified in 3 cases: 1 in a case of macrocystic lymphatic malformation, the other in a case of Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevus, Spinal/Skeletal anomalies syndrome and Klippel–Trenaunay syndrome. BRAF mutation was identified in a patient with a veno-lymphatic malformation. Conclusion: An oncology next-generation sequencing panel can be used for genetic profiling of vascular anomalies. However, a more customized and sensitive panel may be of better diagnostic yield, as detection of somatic mutations in vascular anomalies is challenging due to tissue mosaicism, low-abundant genetic variants, and specimen limitations.

Image-Guided Percutaneous Sclerotherapy for Orbital Low-Flow Malformation: Our Experience.

For a safe sclerotherapy session to be completed in the orbital low-flow malformation (namely lymphovenous malformation or venolymphatic malformation), accurate identification of the target lesion for the drug injection is crucial. Regarding the dependability and viability of the injection approach, the authors have discussed their experiences with image-guided percutaneous sclerotherapy on a few patients.

Transoral Robotic Surgery for a Rare Case of Venolymphatic Malformation in Parapharyngeal Space.

Venous malformations are low flow endothelial malformations with aberrant and ectatic venous channels. They are defects in vascular growth which causes functional and cosmetic impairment. Gradual growth in size of the lesion occurs due to venous congestion or thrombosis. Venous malformations in parapharyngeal space are a rare entity and are difficult to diagnose. Case Report. 13year old boy presented with a history of hyposmia and progressive difficulty in breathing for a duration of 2.5years. MRI face and neck with contrast showed a 4.5 × 4.3x3.6cm lesion in the left parapharyngeal space. CT angiogram of brain and neck demonstrated a heterogeneously enhancing mass in the left parapharyngeal region. PET scan illustrated an ill-defined mass in the left pre styloid parapharyngeal space. Biopsy from the lesion showed features consistent with venolymphatic malformation. Flexible laryngoscopy showed a bulge over the left soft palate region with narrowing of nasopharyngeal lumen. Patient underwent transoral robotic surgery for complete excision of the mass. Post-operative period was uneventful. He has been on follow up for the past 1year with no evidence of any residual or recurrent disease. Venolymphatic malformation is a rare lesion in the parapharyngeal space which is difficult to diagnose pre operatively. Surgical excision is the preferred modality of treatment for deep seated lesions in the parapharyngeal space. The advent of transoral robotic surgery have reduced the morbidity and improved clearance for such cases.

Sclerotherapy with intralesional bleomycin injection under guidance of multi-slice CT for retrobulbar orbital low-flow vascular lesions-single-center experience.

This study investigated the safety and efficacy of sclerotherapy with intralesional bleomycin injection (IBI) for retrobulbar orbital low-flow vascular lesions under multi-slice computed tomography (CT) guidance. Between January 2010 and September 2021, consecutive patients with retrobulbar orbital low-flow vascular lesions who underwent CT-guided IBI at a tertiary centre in Taiwan were enrolled. Their medical records and imaging data were retrospectively collected. This study enrolled 13 patients (7 male and 6 female patients; age range: 1-57 years; mean age: 25.9 years) with lymphatic malformation (LM, n = 4), venolymphatic malformation (n = 1), and venous malformation (VM, n = 8). The overall radiological response rate was 76.9% (10 of 13); the radiological response rate was 75.0% in the VM group (6 of 8) and 75.0% in the LM group (3 of 4). Moreover, 3 patients (23.1%) had minor complications and 1 (7.7%) had a major complication. The mean clinical and radiological follow-up was 8.3 months and no recurrence or progression was reported. CT-guided IBI is an effective and relatively safe minimally invasive treatment for retrobulbar orbital low-flow vascular lesions, with an overall radiological response rate of 76.9% in a mean of 1.5 sessions and a low complication rate. CT-guided sclerotherapy with IBI is a relatively safe, effective, and feasible alternative treatment option for retrobulbar orbital low-flow vascular lesions.

A Study on Clinico-Pathological Presentation and Management Prospective of Venolymphatic Malformation.

To evaluate the clinical perspective of Veno lymphatic malformation and definitive management in respect to outcome. (1) To discuss clinical presentation, symptomatology of Veno lymphatic malformation. (2) Demonstration of radiological features, diagnosis and management of Veno lymphatic malformation with its complication. This prospective study was conducted on four patients attending ENT-OPD of R.G.Kar Medical College, Kolkata, India who had presented with suspected vascular malformation. The study was conducted from March 2021 to March 2023 for a period of 2years. The patients were subjected to detailed history and examination. The diagnosis of the Veno lymphatic malformation was based on the results of Doppler ultrasonography, computed tomography and magnetic resonance imaging. In our study there was male predominance. Most of the patients belonged to the 2nd and 3rd decade of life. The main sites of involvement were lateral neck followed by parotid region. The lesion size ranged in between 3.5 × 3.5cm and 7 × 5cm. The patient with parotid lesion was found to have phlebolith. Since most of the lesions were small with well-defined margins, we were able to excise the lesions completely without leaving any residue. Out of four cases one patient developed temporary paresis of spinal accessory nerve which resolved eventually. Veno lymphatic malformations are rare and there is no definitive protocol for management and to be individualized. Our study will be helpful for furthering the existing knowledge regarding the management of Veno lymphatic lesion emphasizing the need of multimodality approach in surgical decision making.

Imaging of Venolymphatic Malformation in a Child Extending from Inguinoscrotal Region to Thoracic Region: Case Report with Review of Literature

Abstract Vascular malformations (VM) are structural malformations of vascular development causing soft-tissue abnormality with functional and esthetic impairment. They are named by their predominant vessel type as arterial, venous, lymphatic, or mixed types. VM extending from the inguinoscrotal to the thoracic region are extremely rare presentation. We present a rare case of veno-lymphatic malformation in the inguinoscrotal region, which is extending superiorly up to the right thorax in a 14-year-old male child who presented with a large swelling in the bilateral inguinoscrotal region and reddish–brown colored skin patches over the right anterior and lateral thoracoabdominal region. The diagnosis was suggested by ultrasonography and confirmed by computed tomography and magnetic resonance imaging.

Venolymphatic malformation – parotid gland

Abstract: Vascular malformations (VMs) are a rare clinical entity and even rarer are those originating from the salivary glands. Those arising from the parotid gland are the most reported with the most common subtype being venous or arteriovenous malformation. Here, we report a case of a neck mass which was identified as a venolymphatic VM in the parotid gland. A 14-year-old patient presented with a progressive right-sided facial mass without constitutional symptoms. Ultrasonography of the mass showed a well-defined lobulated parotid mass with few cystic areas and minimal vascularity, thus deducing a differential of either a branchial cyst or a pleomorphic adenoma. Excision of the mass was performed and sent for histopathological diagnosis. The grossly hemorrhagic and congested specimen showed many vascular channels lined by flat endothelium on microscopy. These dilated channels of varying sizes had many red blood cells and proteinaceous fluid. The lesion was also seen infiltrating the normal surrounding structures of the salivary gland tissue. With the rare incidence of VMs occurring anywhere in the body, diagnosing a venolymphatic malformation occurring in the parotid gland was an out of common experience. Better imaging of a mass in the salivary gland using not only ultrasonography but also color Doppler and magnetic resonance imaging can help rule out the rare entities that can sometimes be overlooked and help plan better treatment for the patient.

Venolymphatic Malformation over the Left Elbow and Left Breast: A Rare Case Report

Venolymphatic malformations occur due to dysplasia of lymphatic and venous vessel structures. These tumour-like lesions cause tissue abnormality with impaired function and have aesthetic importance when involving the craniofacial region. Vascular lesions are classified as haemangiomas and other vascular malformations. They are named after the vessels involved in malformation like arterial, venous, lymphatic, or mixed types. Present study represents a rare case report of a 23-year-old patient who presented to our hospital with swelling over the left elbow and a lump over the left breast, which was diagnosed as venolymphatic malformation involving the left breast and left elbow joint, which is an unusually affected anatomical region by this congenital anomaly. Ultrasonography (USG), the primary tool for diagnosis, was performed. Later, the patient underwent Magnetic Resonance Imaging (MRI) for confirmation and to determine the extent of the lesion. Excision of the lesion was done over left elbow completely with a wide margin. Histopathology confirmed the final diagnosis. Venous malformations (VM) are the most common among these congenital malformations, with an incidence of over 50%. Lymphatic malformations (LM) have a much lower incidence than venous malformations, but the combination of venous and LM has a very low incidence.

A Large Disabling Intramuscular Venolymphatic Malformation in Blue Rubber Bleb Nevus Syndrome with Review of Literature.

A Large Disabling Intramuscular Venolymphatic Malformation in Blue Rubber Bleb Nevus Syndrome with Review of Literature.

Venolymphatic malformation

Vascular lesions are the most common congenital and neonatal abnormalities. About 60% of anomalies occur in the head-and-neck region due to its complex vascular anatomy. There is confusion in the descriptive terminology for the vascular entity and eponyms. Thus, appropriate classification based on clinical examination and imaging is essential for proper diagnosis and treatment. Thus, the aim of this article is to report a case of venolymphatic malformation with comprehensive knowledge about classifications, pathogenesis, clinical presentation, and its management.

Combined Endonasal and Orbital Approach for Resection of Orbital Apical Tumors.

Tumors of the medial orbital apex can be challenging to resect. Primary endonasal resection can be limited by requirements for fat retraction and poor angulation for lateral orbital dissection. Orbital resection alone can have space limitations and a limited view for dissection of the posterior aspect of the tumor. The combined transorbital transnasal approach integrates the retraction and instrumentation advantages of the transorbital approach with the optical and space advantages of the transnasal approach. In this cross-sectional cohort study, patients who underwent surgical resection of an apical orbital tumor via a combined endoscopic and orbital approach from 2014 to 2019 were identified. Clinical history, examination findings, imaging, surgical technique, histopathology, and complications were reviewed. Six patients were included. Patients presented with proptosis (5), optic neuropathy (3), and motility restriction (2). Surgery involved a medial orbitotomy and endoscopic ethmoidectomy ± sphenoidotomy, medial wall removal, and periosteum opening. The lesion was prolapsed into the sinus, dissected at the apex via the orbital approach, and removed through the nasal cavity. Pathologic diagnoses were cavernous venous malformation (4), venolymphatic malformation (1), and metastatic carcinoid (1). Improvement in pain (2/2), optic neuropathy (2/3), and proptosis (5/5) were noted. Complications included ethmoid mucocele and nasal polyps. The combined endonasal and orbital approach involves prolapsing the lesion into the nasal cavity to aid in dissection on the lateral and posterior aspects, maximizing visibility of the tight intraconal space. This technique can be performed by a team of orbital surgeons experienced in both orbital and endonasal surgery.

Treatment of a child with venolymphatic malformation of the tongue

Relevance. Lymphatic and venolymphatic malformations account for 6-18% of benign lesions in children. In most cases, the head and neck regions are affected, with 50% of intraoral lesions occurring in the tongue. Venolymphatic malformation of the tongue leads to severe functional problems, even life-threatening, to serious esthetic defects and social maladjustment. Diagnosis and treatment of this patient population is a difficult and unsolved problem in pediatric maxillofacial surgery since there is no common algorithm for managing such patients. Purpose – optimization and improvement of the rehabilitation’s effectiveness of children with lymphatic and venolymphatic malformations of the tongue by creating a clear algorithm for the diagnosis and treatment of this patients’ group.Materials and methods. A child aged 1 year and 5 months was treated for venolymphatic malformation of the tongue, macroglossia. In addition to general clinical examination methods, the mandatory diagnostic methods were ultrasonography of pathological tissues, MRI (magnetic resonance imaging) and CT (computed tomography) of the head and neck with intravenous administration of a contrast agent, fibrolaryngoscopy. The child was operated on in two stages: the first stage was a refined resection of the tongue followed by its plastic surgery with the local tissues, the second stage was the removal of the superficial malformation of the tongue using a semiconductor laser LSPIRE-Polyus (ЛСП-«ИРЭ-Полюс»). The surgery was performed under the general anaesthesia. A histopathological examination of the specimen was performed to clarify the diagnosis.Results. The outcome of the treatment was good: functional and esthetic problems were solved, the child became socially adapted. There were no complications during the intra- and postoperative periods. The method of removing the superficial form of venolymphatic malformation of the tongue using a semiconductor laser has once again demonstrated its effectiveness (patent for invention No. 2676832).Conclusions. When examining such children, it is necessary to adhere to a specific diagnostic plan. The treatment of this patients’ group is interdisciplinary and comprehensive, with the obligatory adherence to a clear treatment algorithm, which allows achieving good functional and esthetic outcome. The advantages of laser treatment of the superficial form of venolymphatic malformation of the tongue are the reduction in the risk of recurrence due to the complete and immediate removal of pathological tissues; decrease of the invasiveness of the operation for the precise action of the laser radiation, as well as the simultaneous coagulating effect of laser radiation; improving the functional and esthetic outcome of treatment; reducing the cost of treatment for this group of patients by decreasing the period of the hospital stay.

Venolymphatic malformations: prenatal diagnosis using magnetic resonance imaging, perinatal outcomes and long-term follow-up.

Venolymphatic malformations are benign. Fetal MRI can more precisely demonstrate an infiltrative pattern of malformations than US. To evaluate perinatal outcomes and long-term follow-up of fetal venolymphatic malformations treated in different medical facilities using fetal MRI. This retrospective cohort study evaluated 20 pregnant women between 22weeks and 37weeks of gestation who were referred from different institutions. They presented with fetuses with various diagnoses of cystic masses on routine US. The cases were studied using MRI. We analyzed prenatal data, perinatal outcomes and long-term follow-up. We reviewed the MRI scans of 20 patients with venolymphatic malformation. Referral diagnosis was changed in 40% (8/20) of cases, with postnatal concordance of 100% (20/20). Moreover, 65% (13/20) presented with venolymphatic malformation in more than one body segment. The neck was affected in 70% (14/20) of fetuses, while the head and thorax were affected in 30% (6/20) and 45% (9/20), respectively. There were intrathoracic lesions in 35% (7/20), lesions in the abdomen in 30% (6/20), and lesions in the perineum and extremities in 10% (2/20) each. Tracheal displacement, neck deflection and anatomical displacement caused by tumoral compression were present in 15% (3/20) of cases. Moreover, 25% (5/20) of newborns required neonatal intensive care unit admission, and all presented with cervical or thoracic venolymphatic malformation. Furthermore, 50% (10/20) of cases presented with complete resolution after medical therapy. The intrathoracic and cervical residuals (35%, 7/20) were monitored and treated. MRI showed good correlation with postnatal examination of venolymphatic malformation, was useful in the differential diagnosis of fetal cysts on US, and presented a significant postnatal correlation with thoracic infiltration. The outcomes of prenatally diagnosed venolymphatic malformations are good despite the varying protocols among medical facilities.

A Rare Case Report of Venous Malformation of the Submandibular Gland- Masson’s Haemangioma

Masson’s haemangioma was first described by Masson in 1923 as “haemangioendothelioma vegetant intravasculaire”. It is common in skin and subcutis which appears as red blue nodule. It also occurs in fingers, trunk, head and neck, heart, larynx and hypopharynx. Masson’s haemangioma is a rare venous malformation. Treatment is complete surgical excision. It is rarely known to recur. It is a locally occuring lesion with no reports of metastasis. Venous malformation can be distinguished by their characteristic imaging findings at doppler ultrasound vs Magnetic Resonance Imaging (MRI) and direct phlebography. A 30-year-old male presented with swelling in the left submandibular region for one month. On examination a cystic swelling was present in left submandibular region. Ultrasound Sonography test (USG) neck with doppler revealed multilocular cystic swelling with low level internal echoes in left submandibular region suggestive of low flow venolymphatic malformation. The mass was surgically excised and sent for histopathological examination and reported as masson’s haemangioma. Masson’s haemangioma is a rare venous malformation. Appropriate history, clinical examination and investigation leads to the correct diagnosis and treatment. Incomplete removal of the mass leads to recurrence. The patient was still on follow-up and no recurrence was noted.

Compound Coherent Plane-Wave Ultrasound Imaging of Vascular Malformations of the Orbit.

Prior color-flow Doppler ultrasound studies of the eye have been performed with systems that exceed US Food and Drug Administration permissible ophthalmic ultrasonic energy limits. The authors report a study of orbital vascular malformations using a novel, Food and Drug Administration compliant, ultrafast compound coherent plane-wave ultrasound device to produce power Doppler images. Using a Verasonics Vantage 128 ultrasound engine and a user-developed MATLAB program with a 5-MHz linear-array probe, compound coherent plane-wave ultrasound data were collected on patients with orbital vascular malformations. Real-time color-flow Doppler visualized orbital blood flow. Power Doppler images were produced by post-processing compound coherent plane-wave ultrasound data acquired continuously for 2 seconds. Compound coherent plane-wave ultrasound was performed on 3 orbital vascular malformations (1 venolymphatic malformation, 1 infantile hemangioma, and 1 arteriovenous malformation). Compound coherent plane-wave ultrasound produced a high-resolution depiction of orbital blood flow for orbital vascular malformations with high sensitivity to slow flow. Analysis of blood flow within orbital lesions informs treatment planning. Compound coherent plane-wave ultrasound is an emerging ultrasound modality that falls within the Food and Drug Administration guidelines for use in the orbit and provides information to characterize orbital vascular malformations.

Diagnosis and Management of Acute Thrombosis in Venous Dominant Orbital Venolymphatic Malformations.

To report the characteristic clinical and imaging findings in a series of patients with thrombosed orbital venolymphatic malformations. Patients affected by acute thrombosis of an orbital venolymphatic malformation were reviewed. Clinical findings including symptoms and signs of presentation, characteristic imaging features, and clinical course are presented. Ten patients were identified. The mean age at presentation was 56 years. All patients presented with acute pain or pressure sensation, with the most common additional presenting symptoms being proptosis (6/10) and diplopia (5/10). CT imaging typically demonstrated a nonspecific orbital mass. Nine patients underwent MRI which revealed a soft tissue mass with peripheral rim enhancement and a central, typically T2 hypointense, core. Seven out of 10 patients were observed and had improvement in symptoms and signs without surgical intervention. Two patients underwent surgical intervention for intractable pain. Patients with thrombosis of a venolymphatic malformation often present with acute pain, proptosis, and diplopia. Characteristic MRI findings of a peripheral rim enhancing mass with a T2 hypointense core can be noted. Careful observation is a reasonable management option for cases without visual compromise or intractable pain.

Venolymphatic Malformation of the Tongue and Response to Sclerotherapy Using Sodium Tetradecyl Sulfate.

Venolymphatic Malformation of the Tongue and Response to Sclerotherapy Using Sodium Tetradecyl Sulfate.

Dural sinus malformation with giant pouch (DSMGP): symptoms and treatment.

The aim of this study is to describe the clinical manifestations and treatment options of patients having dural sinus malformation with giant pouch (DSMGP) in a tertiary pediatric center. Dural sinus malformation with giant pouch (DSMGP) is a rare vascular malformation affecting fetuses, newborns, and infants. It is characterized by a dilated dural sinus frequently thrombosed with arteriovenous fistula (AVF) in its wall. There is a few information about symptoms, best treatment, and prognosis of the disease. Medical charts of cases of DSMGP were retrospectively analyzed from January 2010 to January 2019. Our hospital is a pediatric tertiary center. An adult patient managed by the authors in another institution was added to the series. Eight pediatric patients from 0 to 9months were managed, four were males. The adult patient was a 40-year-old male. Symptoms were mass effect in 4 pediatric cases. Exophthalmos was present in the pediatric case and adult case. Both cases had venolymphatic malformation of the orbit. Congestive heart failure (CHF), epistaxis and facial vein engorgement, and intracranial hemorrhage (ICH) were the symptoms in other 3 cases. A child has spontaneous resolution of the disease. Transverse sinus and superior sagittal sinus are affected more commonly. Patients with totally thrombosed pouch had mass effect symptoms. These cases were managed by surgical excision. When AVFs are present, clinical manifestations were secondary to cerebral venous hypertension or cardiac overload. If cavernous sinus drained the shunt (capture), epistaxis and facial veins engorgement could be present. AVFs are amenable to embolization, achieving the control of venous hypertension in most cases. Cavernous malformation could be present and must be controlled because its enlargement could be a sign of uncontrolled venous hypertension. On the other hand, DSMGP can be accompanied by venolymphatic malformation conforming a cerebral venous metameric syndrome.

Massive Inferior Vena Cava Thrombosis Associated With Retroperitoneal Venolymphatic Malformation: Use of Intravascular Ultrasound for Diagnosis and Management

Inferior vena cava (IVC) anomalies are uncommonly described. Many are associated with a higher rate of thromboembolic complications. Here we report a case of IVC thrombosis in a 20-year-old woman with a large isolated retroperitoneal venolymphatic malformation (VLM) with IVC envelopment in which a

Persistent Extreme Hyperextension of the Fetal Neck: Clinical and Neuroimaging Findings.

Persistent hyperextension of the fetal craniocervical junction or neck is one of several fetal positions commonly observed on prenatal imaging. Underlying fetal structural etiologies such as fetal neck masses and iniencephaly can be detected as causes of hyperextension. Caesarean delivery is considered in cases of vaginal delivery or obstructed labor for fear of cervical spinal cord injury. In this case series, we describe the prenatal magnetic resonance imaging (MRI) findings and their potential role in obstetric management and discuss postnatal outcomes in fetuses demonstrating prenatal imaging findings of persistent extreme hyperextension of the neck. A retrospective cohort of fetuses with extreme fetal neck hyperextension on prenatal ultrasound and subsequent MRI is described. Persistent extreme neck hyperextension was demonstrated in four pregnancies. One patient showed resolution of head positioning prior to labor. In the other 3 patients, neck hyperextension persisted until labor. In these three pregnancies, caesarean section with early intubation was performed due to concern for airway compromise and cervical cord injury. An underlying structural neck abnormality with airway compromise was noted only in 1 patient (large venolymphatic malformation). No airway compromise, cervical spine, or spinal cord anomaly was identified in the remaining 3 patients. Noncervical fetal anomalies were detected only in 1 patient (arthogryposis multiplex and clubfoot deformities). In patients with no structural neck abnormality, early extubation was performed shortly following labor. Detailed, high-resolution fetal MRI may serve as a valuable secondary imaging modality for clinical decision making regarding management of pregnancy, in utero therapy, mode of delivery, and postnatal care.