Benign Vascular Anomalies Research Articles

Imaging of Vascular Anomalies.

Vascular anomalies (VAs) are a heterogeneous group of vascular malformations and tumors that are frequently encountered in daily practice. While most are benign, malignant vascular tumors exist, as do other nonvascular soft-tissue malignancies that may masquerade as a benign VA. The subtleties of arriving at an accurate diagnosis can be intimidating, as new entities are described and names of conditions have been modified. Therefore, the goal of this article is to describe the classic imaging findings of VAs so that the interventional radiologist can confidently and competently contribute to management decisions, with special attention to ominous imaging features that should prompt biopsy or further imaging workup.

Synovial hemangioma presenting with chronic painful infrapatellar mass: a case report

BackgroundSynovial hemangiomas are rare benign vascular anomalies surrounded by a synovial lining and were first described by Bouchut in 1856. These neoplasms can develop in the intra-articular region, resulting in effusions and knee pain. However, their cause remains unknown. Prompt diagnosis and intervention are critical to prevent chondral damage. Histopathological examination is used to achieve the diagnosis, which is often delayed because of a lack of specific clinical signs. This report describes a unique case in which a painful infrapatellar mass was diagnosed as a synovial hemangioma. The absence of typical magnetic resonance imaging (MRI) findings highlights the importance of arthroscopic excision for diagnosis and symptom relief.Case presentationA 20-year-old woman presented with persistent anterior left knee pain that became exacerbated when she climbed stairs. Despite previous pain management and physical therapy, she developed a painful lump beneath her patella that worsened over time. She had also undergone arthrocentesis, but this did not relieve her pain. Physical examination revealed a palpable, immobile 5-cm mass along the patellar tendon with limited knee flexion and extension and normal ligament stability. T1-weighted fat-saturated MRI of the left knee with gadolinium-based contrast revealed a lobulated intra-articular mass in Hoffa’s fat pad that resembled a soft tissue chondroma. A biopsy of the mass was performed to provide histopathological evidence, confirming the benign nature of the mass. The subsequent excisional arthroscopy, combined with incision enlargement for mass removal, confirmed the histopathologic diagnosis of synovial hemangioma based on the presence of numerous dilated blood vessels and venous proliferation within sections of the synovium. Recovery was complete, and no residual tumor was detected on follow-up MRI after 1 year.ConclusionThis case study emphasizes the importance of arthroscopic excision over open surgery for patients with synovial hemangioma. The minimally invasive nature of arthroscopy combined with the well-encapsulated nature and location of the mass facilitates complete resection.

Magnetic resonance imaging of fetal vascular malformations.

Vascular anomalies develop during fetal life and can be detected on prenatal ultrasonography and fetal magnetic resonance imaging. Diagnosis of lymphatic, venous, and arteriovenous malformations, as well as congenital hemangiomas and other congenital vascular tumors, may be challenging. The benign vascular anomalies may be difficult to differentiate from malignancies with a similar appearance. In this manuscript, we present a succinct overview of the congenital vascular anomalies that may present in fetal or neonatal life.

Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.

Arteriovenous malformations (AVM) are benign vascular anomalies prone to pain, bleeding, and progressive growth. AVM are mainly caused by mosaic pathogenic variants of the RAS-MAPK pathway. However, a causative variant is not identified in all patients. Using ultra-deep sequencing, we identified novel somatic RIT1 delins variants in lesional tissue of three AVM patients. RIT1 encodes a RAS-like protein that can modulate RAS-MAPK signaling. We expressed RIT1 variants in HEK293T cells, which led to a strong increase in ERK1/2 phosphorylation. Endothelial-specific mosaic overexpression of RIT1 delins in zebrafish embryos induced AVM formation, highlighting their functional importance in vascular development. Both ERK1/2 hyperactivation in vitro and AVM formation in vivo could be suppressed by pharmacological MEK inhibition. Treatment with the MEK inhibitor trametinib led to a significant decrease in bleeding episodes and AVM size in one patient. Our findings implicate RIT1 in AVM formation and provide a rationale for clinical trials with targeted treatments.

Hemangioma of the buccal mucosa treated with sclerotherapy: A rare case report

Hemangiomas are common benign vascular anomalies that can occur in various locations throughout the body, including the oral cavity. The lesions are generally asymptomatic and exhibit a variation in the size and colour. Here, we present a case report of a hemangioma located in the buccal mucosa of a 40-year-old female patient who presented with asymptomatic reddish purplish swellings in the buccal mucosa, which had gradually increased in size over the last 6 months. Clinical examination and imaging studies confirmed the diagnosis of a hemangioma. 1 ml of 3% of sclerosing agent (sterol; sodium tetradecyl sulphate) mixed with lignocaine HCL was injected in the periphery of the lesion, once a week for 3 weeks, and periodic follow-up evaluation revealed a marked reduction in the lesion size. This case demonstrates the feasibility and efficacy of sclerotherapy as a minimally invasive treatment option for hemangiomas of the buccal mucosa, particularly in cases where surgical excision may be technically challenging or associated with significant morbidity.

Lymphatic differentiation and microvascular proliferation in benign vascular lesions of skin and soft tissue: Diagnostic features following the International Society for The Study of Vascular Anomalies Classification—A retrospective study

Discrepancies have been noted between the clinical and histologic diagnosis of vascular malformations. To evaluate the effectiveness of the International Society for Study of Vascular Anomalies (ISSVA) classification in diagnosing benign vascular anomalies based on clinical and (immuno) histologic parameters, focusing on lymphatic differentiation and vascular proliferation. A retrospective study of 121 consecutive patients with benign skin and soft-tissue vascular anomalies located in the head and neck region (pyogenic granulomas and angioma senilis were excluded) by applying multiplex immunohistochemistry staining for lymph vessels (D2-40), endothelial blood vessels, and proliferating cells (Ki67). Clinical and histologic diagnosis was revised after the ISSVA classification. Initially, 64 lesions were diagnosed as tumors and 57 as malformations. Revision diagnosis following the ISSVA classification revealed 27 tumors, 90 malformations (22.2% lymphatic), and 4 non-ISSVA. Immunostaining showed lymphatic differentiation in 24 (19.8%) of 121 cases, of which 20 were malformations. Proliferative activity (Ki67+) was found in 41 (33.8%) of 121 cases, of which 8 were arteriovenous malformations. Quality and size of materials (biopsies vs resections) and clinical information. The diagnostic accuracy of combined histologic and clinical approaches for identifying vascular anomalies following the ISSVA classification can be substantially enhanced by incorporating additional immunostaining techniques to evaluate lymphatic differentiation and proliferative activity, particularly in identifying the occurrence of vascular malformations.

Peripheral vascular lesions in adults referred to MRI/MRA: Multivariable analysis of imaging features to help differentiate benign vascular anomalies from malignancies

PurposeSymptomatic peripheral vascular lesions in adults are often clinically diagnosed as benign vascular anomalies and may receive MRI/MRA for pre-treatment vascular mapping. Malignant neoplasms are difficult to distinguish from benign vascular anomalies on MRI/MRA. This study was performed to determine if there are imaging signs that can distinguish malignancies from benign vascular anomalies in adults imaged with MRI/MRA. Materials and methodsA radiology database was retrospectively searched for ISSVA classification terms in MRI/MRA reports from 1/1/2002–1/1/2019. Adult patients (n = 50, 52 corresponding lesions) with contrast-enhanced MRI/MRA, peripheral soft tissue based lesion (s), and available pathology or long-term (>1 year) imaging follow-up were included. MRI/MRA images were reviewed by 3 readers for the following lesional characteristics: morphology (marginal lobulation, internal septations, distinct soft tissue mass), peri-articular location, T2-weighted characteristics (hyperintensity, heterogeneity, perilesional edema, and adjacent triangular T2-peaks), bulk fat, hemorrhage, enhancement pattern (peripheral, diffuse, or absent), neovascularity, low-flow venous malformation type enhancement, arterial enhancement within 6 s, enhancement curve (progressive, plateau, or washout), measured size, and multifocality. The MRI/MRA features' associated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated. To identify factors predictive of malignancy, a two-stage multivariable analysis was performed. Results23% (12/52) of the lesions, corresponding to 22% (11/50) of the patients, were malignant neoplasms. No single imaging feature reliably predicted malignancy (PPV ≤ 60%). Absence of distinct soft tissue mass excluded malignancy (NPV 100%). Multivariate analysis derived a summary score based on the five strongest predictors of malignancy: adjacent T2 peaks, age ≥ 70 years, distinct soft tissue mass, lesion size ≥ 5 cm, and absence of septations. A score ≥ 3 resulted in sensitivity of 92% and specificity of 85%. ConclusionExtremity MRI/MRA rarely differentiates malignant from benign soft-tissue vascular tumors in adults. However, MRI/MRA can suggest malignancy when patient age and multiple imaging features are considered. Periodic clinical follow-up after the planned endovascular or operative procedure should be performed to avoid missing a malignancy.

Prenatal persistent left superior vena cava in low population: Not a benign vascular anomaly

ObjectiveThe aim of this study is to identify prenatally diagnosed cases of persistent left superior vena cava (PLSVC) in our clinic, to evaluate the associated structural and chromosomal results, and to review their outcome. Materials and MethodsDuring a four-year period, patients with fetal PLSVC were detected by echocardiography. We reviewed medical records of these affected pregnancies, including maternal demographics, sonographic findings, chromosomal microarray results and pregnancy outcomes. ResultsThere were a total of 140 cases of fetal PLSVC. Eighty-nine fetuses (63.6%) had associated structural anomalies, while the remaining 51 fetuses (36.3%) had PLSVC as an isolated finding. In the non-isolated cases, cardiac anomalies were present in 72 fetuses (80.9%), and extracardiac abnormalities in 45 fetuses (50.6%). Among the 89 cases with non-isolated PLSVC, 12 cases had chromosomal abnormalities including 5 cases of aneuploidies. Among the 51 cases with isolated PLSVC, one pregnancy of chromosomal microduplication was detected. ConclusionIsolated PLSVC is a benign vascular anomaly in low risk population. However, the information about background risk of identifying an abnormal clinically significant CMA result should be conveyed to all pregnant women when they consults this vascular variation.

MR-guided Cryoablation for the Treatment of Symptomatic Pedal Vascular Malformations

Objective: Vascular malformations are benign vascular anomalies characterized by abnormally developed arterial, venous, and lymphatic structures, which are often symptomatic. Historical and current treatment techniques include intravascular embolization/sclerosis and surgical resection. While these techniques have proven to be successful at managing and treating these types of lesions, these techniques are not without risk, especially in the small spaces of the hands and feet. Cryoablation for the treatment of low-flow vascular malformations is a new and evolving technique. We present five cases of symptomatic pedal vascular malformations treated with MR guided cryoablation, which provides encouraging safety and feasibility results for these difficult to treat lesions. Methods: A retrospective review of patients who had undergone MR-guided cryoablation of their pedal vascular malformations between January 2016 and January 2020 was performed. Results: Five cryoablations were completed without immediate complication. All patients reported markedly decreased pain corresponding to the treated area and improvement in their ability to return to a more active lifestyle. Two patients experienced mild transient numbness which resolved by 2–3 months and one patient experienced a transient motor and sensory neuropathy which resolved by 6 months. Conclusion: We present five cases of successful MR-guided cryoablation of symptomatic pedal venous malformations. Many of the patients included in this review failed conservative and other interventional/surgical treatments. The treatment options for this patient cohort can be limited given small space within the plantar aspect of the foot. Cryoablation of these lesions can be performed safely especially under continuous MRI monitoring. Level of Evidence: Case series (Level 4)

Intra-articular venous malformations of the knee: a diagnostic challenge

BackgroundIntra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in the knee. The terminology of these lesions is still ill-defined, as they are often termed in the literature as synovial hemangiomas. Early diagnosis can be difficult, because they usually present with nonspecific clinical manifestations that are similar those of other rheumatic diseases, especially juvenile idiopathic arthritis (JIA).Case seriesWe conducted a retrospective analysis of five pediatric patients admitted to our units for recurrent swelling of the knee, and compared their characteristics with those of literature reports. The average age at first symptom and time from onset to diagnosis was 3.9 years (range 18 months-7 years) and 3.5 years (range 1-7 years), respectively. In our patients, an initial misdiagnosis of JIA, bleeding disorder or traumatic arthropathy was made. On MRI imaging, the features of the lesion were similar in all patients, and were marked by isointense-to-hypointense signal in T1-weighted images, and hyperintense signal in T2-weighted images. When performed, arthrocentesis led to aspiration of bloody fluid. The diagnosis was confirmed with a biopsy and histopathologic assessment in all patients. Open surgery enabled complete excision of the mass and was followed by stable remission over time in all cases.ConclusionsOur report highlights the challenges that may be posed by the detection of knee IAVM and the frequent long delay between onset of symptoms and diagnosis. The key elements for early recognition include careful assessment of patient history, demonstration of bloody fluid on arthrocentesis, and proper interpretation of MRI scanning.

Imaging of benign cervicofacial vascular anomalies and associated syndromes.

Cervicofacial vascular anomalies can result in morbidity, pain, and cosmetic concerns in affected individuals. Each anomaly has its own unique natural history, treatment, and associations with underlying genetic syndromes. For optimal patient care, it is important for the neuroradiologist to accurately recognize and characterize these entities to ensure appropriate treatment and management. In this review, we discuss the general characteristics, classifications, and imaging features associated with the most common vascular anomalies such as hemangiomas, arteriovenous malformations and fistulas, capillary malformations, venous malformations, and lymphatic malformations in the context of associated syndromes. Additionally, we discuss novel imaging techniques that aid in identifying these vascular anomalies.

Neonatal cervical lymphatic malformation involving the fetal airway the setting of emergency caesarean section

Abstract Objectives Lymphatic malformations are benign vascular anomalies comprised of lymphatic elements and most commonly occur in the neck. They may be diagnosed prenatally on ultrasound, and, in addition to confirming the diagnosis, fetal MRI can delineate the presence and extent of airway involvement. A variety of therapies are available for the treatment of lymphatic malformations including medical management, sclerotherapy, and surgery. Case presentation We report a case of a 28 year-old pregnant female diagnosed with a fetal neck mass by ultrasound at 21 weeks gestation. A fetal MRI was performed which demonstrated a multiseptated cystic neck mass most suggestive of a lymphatic malformation. The mass was noted to be intimately associated with the fetal airway. Follow up ultrasounds showed continued growth of the lesion throughout pregnancy. The baby was born by EXIT procedure and the lymphatic malformation was ultimately treated by a combination of medical treatment, sclerotherapy, and surgery. Conclusions Cervical lymphatic malformations have a classic imaging appearance and can enlarge throughout gestation as well as after delivery. The treatment plan typically involves a multidisciplinary approach.

Placental mesenchymal dysplasia and hepatic cyst

Placental mesenchymal dysplasia (PMD) is a rare benign vascular anomaly of the placenta. It can be misdiagnosed as a molar pregnancy resulting in unnecessary termination of pregnancy. A 30-year-old woman was referred to our hospital at 18 gestational weeks due to suspicion of molar pregnancy. The ultrasound showed a bulky placenta with multiple cysts. Oligohydramnion and fetal hypoechogenic cystic area without doppler flow were diagnosed at 23 weeks. The baby was operated on after delivery, and an 80 mm multifocal cyst originating from the right lobe of the liver was removed. The placenta demonstrated swelling stem villi with enlarged vessels and increased interstitial cells without trophoblast proliferation. PMD and fetal hepatic cyst can coexist; however, the relationship between those conditions remains to be elucidated. PMD is associated with adverse pregnancy outcomes but also with a good prognosis.

Imaging features of pathologically proven pediatric splenic masses

Splenic masses present a diagnostic challenge to radiologists and clinicians alike, with a relative paucity of data correlating radiologic findings to pathological diagnosis in the pediatric population. To illustrate splenic mass imaging findings and approximate lesion prevalence, we retrospectively reviewed all splenectomies and splenic biopsies for splenic masses at a single academic pediatric hospital over a 10-year period in patients 18years and younger. A total of 31 splenic masses were analyzed. Lesion prevalence, pathology and imaging features associated with sampled splenic masses are described. The lesions encountered include benign splenic cysts (9), vascular anomalies (7), hamartoma (3), leukemia/lymphoma (3), granulomata (3) and metastasis (2). We also identified single cases of angiosarcoma, splenic cord capillary hemangioma, congestive hemorrhage, and benign smooth muscle neoplasm.

Benign vascular anomalies: A transition from morphological to etiological classification

The International Society for the Study of Vascular Anomalies (ISSVA) devised a multidisciplinary etiopathogenesis based approach to classify benign vascular anomalies into tumors and malformations. This classification scheme has major therapeutic and prognostic implications as treatment modalities differ for both the categories. Inappropriate usage of the term “hemangioma” for etiopathogenetically distinct entities is commonly seen in clinical practice leading to delivery of incorrect treatment to the patients. We aimed to study the histomorphological and immunohistochemical features of benign vascular anomalies for their precise histopathological classification. A total of 48 cases diagnosed over a period of 3.5 years were reviewed and reclassified into vascular tumors and malformations based on ISSVA classification and prototypical histopathological features. Biopsies were reviewed based on 5 histopathological criteria viz. endothelial morphology, mitotic activity, intralesional nerve bundles, intralesional inflammation, and prominent vessel type. A panel of GLUT-1, WT-1, and Ki-67 was performed in each case. Seven cases of infantile hemangioma, 4 cases each of non-involuting congenital hemangioma and pyogenic granuloma, and 33 cases of vascular malformations were diagnosed. Endothelial cell morphology (p < 0.001), mitotic activity (p < 0.001), and intralesional nerve bundles (p < 0.001) were found to be statistically significant in differentiating hemangioma from malformations. GLUT-1 (p < 0.001) and Ki-67 labeling index (p < 0.001) were useful to distinguish infantile hemangioma from vascular malformations. To conclude, the ISSVA classification of benign vascular anomalies can be reliably done on histopathology. However, every case must be interpreted in the light of clinical and radiological features.

Intramedullary Cavernoma: Case Report and Literature Review

Introduction: Cavernomas are benign vascular anomalies consisting of cavities where the blood circulates at low flow and at low pressure. Intramedullary localization is unusual, represents approximately 5 to 12% of spinal vascular malformations and 3% of intra-dural vascular malformations (5% of medullary vascular lesions). Observation: A patient, aged 59, consulted for the abrupt installation of moderate back pain followed by predominant muscle weakness in the two lower limb of progressive worsening, responsible for gait disorders. The patient reported thermal hypoesthesia and heaviness of the two lower limbs that had been evolving for two years. The examination found a dorsal spinal cord compression syndrome. On the MRI, there were abnormalities of intramedullary signal of the dorsal (D11) spinal cord with bleeding stigmas suggestive of intramedullary cavernomas. Conclusion: The management of the medullary cavernoma is essentially neurosurgical with complete microsurgical resection of the malformation. In the absence of surgical treatment, evolution can be to chronic myelopathy or neurological aggravation.

LIP HEMANGIOMA IN A YOUNG PATIENT: AN AESTHETIC CHALLENGE MANAGED BY AN ASSOCIATION OF TREATMENT TECHNIQUES

Treatment of benign lip vascular anomalies can be an aesthetic challenge even though several techniques are available to manage these lesions. A difficult case treated with an association of techniques is presented. A 12-year-old boy with an extensive congenital hemangioma in the upper lip was referred with an aesthetic complaint and past history of treatment failures. Sclerotherapy with 5% ethanolamine oleate was proposed. Intriguingly, after 6 sessions of sclerotherapy, the size and the consistency of the lesion remained almost the same, although some color improvement was observed. Therefore, an aesthetic surgery was considered and the patient was referred to a vascular surgeon. After arteriography, 3 sessions of percutaneous embolization with 3% polidocanol foam was performed. Afterward, the patient underwent 2 surgical interventions using diode high-potential laser achieving a satisfactory result. Although uncommon, a refractory vascular lesion may occur and an association of different techniques may be necessary.

Intramedullary Cavernoma: Case Report and Literature Review

Introduction: Cavernomas are benign vascular anomalies consisting of cavities where the blood circulates at low flow and at low pressure. Intramedullary localization is unusual, represents approximately 5 to 12% of spinal vascular malformations and 3% of intra-dural vascular malformations (5% of medullary vascular lesions). Observation: A patient, aged 59, consulted for the abrupt installation of moderate back pain followed by predominant muscle weakness in the two lower limb of progressive worsening, responsible for gait disorders. The patient reported thermal hypoesthesia and heaviness of the two lower limbs that had been evolving for two years. The examination found a dorsal spinal cord compression syndrome. On the MRI, there were abnormalities of intramedullary signal of the dorsal (D11) spinal cord with bleeding stigmas suggestive of intramedullary cavernomas. Conclusion: The management of the medullary cavernoma is essentially neurosurgical with complete microsurgical resection of the malformation. In the absence of surgical treatment, evolution can be to chronic myelopathy or neurological aggravation.

Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.

Biallelic constitutional mutations in DNA mismatch repair genes cause a distinct syndrome, constitutional mismatch repair deficiency syndrome (CMMRD), characterized by cancers from multiple organs, most commonly brain tumors, during childhood. Surveillance protocols include total and brain MR imaging among other modalities to enable early detection of tumors. Brain surveillance scans revealed prominent brain developmental venous anomalies (DVAs) in some patients. DVAs are benign vascular anomalies, and their incidence in the general population is 2.6%-6.4%. Most developmental venous anomalies are asymptomatic and are found incidentally. Our purpose was to assess the prevalence of DVAs in CMMRD patients and describe their phenotype. A retrospective descriptive analysis of brain MR imaging studies from 10 patients from 3 families with CMMRD was performed. Analysis included the number of developmental venous anomalies, location, draining vessels, and associated vascular anomalies (ie, cavernomas), with clinical correlation of symptoms and tumors. All 10 patients had ≥2 developmental venous anomalies, and 2 had, in addition, non-therapy-induced cavernomas. There was no clinically symptomatic intracranial bleeding from developmental venous anomalies. Six patients had malignant brain tumors. The location of brain tumors was not adjacent to the developmental venous anomalies. No new developmental venous anomalies developed during follow-up. The occurrence of multiple developmental venous anomalies in all our patients with CMMRD suggests that developmental venous anomalies may be a characteristic of this syndrome that has not been previously described. If confirmed, this quantifiable feature can be added to the current scoring system and could result in early implementation of genetic testing and surveillance protocols, which can be life-saving for these patients.

Malignant tumors misdiagnosed as benign vascular anomalies.

Malignant soft tissue tumors are rare and difficult to diagnose in children. These can initially be misdiagnosed as benign vascular anomalies. Management of these two conditions differs drastically and delay in diagnosis may impact overall survival. To predict qualities that may increase the index of suspicion for malignancy in patients presenting with lesions initially considered vascular anomalies. A retrospective review at a quaternary hemangioma and vascular malformation center of all patients who presented between 2008 and 2016 with an initial diagnosis of a benign vascular malformation, which on further work-up was noted to be a malignancy. Demographics, clinical presentation, and laboratory and radiologic studies were analyzed. Eleven patients were identified; the median age at presentation was 2 months (0-24years). Ten out of 11 lesions had rapid growth, which prompted biopsy. Pain was an inconsistent finding (36%). Tumor markers were positive in only one case. Median follow-up was 3 years (range 6 months to 8 years); seven patients have no evidence of disease, two patients are under treatment for progression or relapse of disease, and two patients have died. Although malignant vascular tumors are rare, a clear index of suspicion needs to be maintained particularly with rapid growth or increasing symptoms. Differentiation of malignant tumor from benign lesions relies on the comprehensive evaluation of clinical manifestations, evolution of the lesion, and abnormal clinical behavior, by an experienced multidisciplinary vascular malformation team. There should be a low threshold for biopsy of unclear vascular lesions.