Vascular malformations

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular syndrome involving bone and soft tissue hypertrophy of the involved limb and vascular malformations of the lymphatic, capillary, and venous systems. It is often confused with Parkes-Weber syndrome (PWS). KTS is characterized by a triad of capillary malformation in the form of port wine stains, bone or limb hypertrophy, and varicose veins. The vein of Servelle, also known as the lateral marginal vein, is one of the two persisting embryonic veins of the leg, the persistent sciatic vein being the other...

No abstract text is available yet for this article.

We describe an early adolescent male who was diagnosed with vascular malformation associated with unilateral limb overgrowth based on the clinical findings of a persistent port-wine stain since birth and gradually progressing right lower limb oedema since early childhood. Clinicians should keep in mind to clinically evaluate such malformations in detail, as well as contemplate genetic testing in patients presenting with a large port-wine stain at birth, particularly if well demarcated and lateral in a lower extremity...

Brain arteriovenous malformations (AVMs) are a rare entity of vascular anomalies, characteristic of anatomical shunting where arterial blood directly flows into the venous circulation. The main aim of the active treatment policy of brain AVMs is the prevention of haemorrhage. There are well-established treatment strategies that continually improve in their safety and efficacy, primarily due to the advances in imaging modalities, targeted and novel techniques, the development of alternative treatment approaches, and even better experience with the disease itself...

Current treatments of brain arteriovenous malformation (BAVM) are associated with considerable risks and at times incomplete efficacy. Therefore, a clinically consistent animal model of BAVM is urgently needed to investigate its underlying biological mechanisms and develop innovative treatment strategies. Notably, existing mouse models have limited utility due to heterogenous and untypical phenotypes of AVM lesions. Here we developed a novel mouse model of sporadic BAVM that is consistent with clinical manifestations in humans...

Hepatocellular adenomas (HCAs) are rare benign liver tumours. Predisposing factors and complication rates appear to differ among children and adults. In the present study, we aimed to systematically characterise paediatric HCAs and determine their course, complications, and management. Medical history, clinical symptoms, imaging, histopathology, and genetics of children with HCAs were collected through a systematic and comprehensive review of the published literature. A total of 316 children with HCAs were included in the present study...

Vascular malformations can present with a variety of symptoms and an unpredictable course with the occurrence of wounds. Ulcerations in patients with vascular malformations are fortunately rare. Although few data exist, complications may involve a variety of mechanistic or hemodynamic factors. A rigorous etiological and vascular assessment is therefore essential. In view of the paucity of recommendations, the Wound and Healing Group of the French Society of Vascular Medicine, based on the literature on the subject, presents a number of suggestions for the diagnosis and management of wounds associated with vascular malformations...

Vascular anomalies in the head and neck area are usually rare diseases and pose a particular diagnostic and therapeutic challenge. They are divided into vascular tumours and vascular malformations. A distinction is made between benign tumours, such as infantile haemangioma, and rare malignant tumours, such as angiosarcoma. Vascular malformations are categorised as simple malformations, mixed malformations, large vessel anomalies and those associated with other anomalies. Treatment is interdisciplinary and various modalities are available...

INTRODUCTION AND IMPORTANCE: Arteriovenous malformation (AVM) is a rare condition affecting less than 5/10,000 people, with high misdiagnosis due to its heterogeneity, inconsistent nomenclature, and diverse diagnostic criteria. Understanding its prevalence in this age group is crucial for effective treatment. Here we present a case report of a patient with AVM. IRB approval and patient consent were obtained. This study was done based on SCARE criteria. CASE PRESENTATION: A 53-year-old female patient was diagnosed with a right hip vascular mass suggestive of AVM...

A State of the Art lecture titled "Anticoagulation and Vascular Anomalies" was presented at the International Society on Thrombosis and Haemostasis (ISTH) Congress in 2023. Vascular anomalies have been classified by the International Society for the Study of Vascular Anomalies into vascular tumors and vascular malformations. Although some vascular tumors, such as tufted angioma and kaposiform hemangioendothelioma, and other vascular malformations can present with coagulation aberrancies, these are not generally managed with anticoagulation...

Organ formation requires tight coordination with vascular growth. Intricate networks of blood vessels course through all organs and tissues and are composed of both endothelial cells (ECs) and associated mural cells. Despite decades of research into the biology of blood vessel formation and homeostasis, little is known about how the vasculature ensures its properly coordinated growth and intimate development with the cells of different organs. Even more mystifying is how a highly dynamic endothelium quiesces to differentiate into mature vessels, and how disruption of this mature quiescence results in pathological conditions...

BACKGROUND: Interruption of the fistoulus point is the goal of the treatment of spinal dural arteriovenous fistula (dAVFs). Microsurgery still represents a highly efficient treatment in terms of complete occlusion with the lowest risk of recurrence rate. It is reported that the hardest step consists in finding the fistulous site itself, potentially extending surgical access and time, and increasing potential post-operative surgical-related complications. The accurate preoperative detection of the shunt and spinal level together is crucial for guiding optimal, fast and safe microsurgical treatment...

PURPOSE: To evaluate the correlation between pulmonary hypertension (PH) and post-embolization pulmonary arteriovenous malformation (PAVM) recurrence. MATERIALS AND METHODS: With IRB approval the records of 377 patients with PAVMs evaluated at single HHT center of excellence between January 1, 2013, and September 10, 2023, were retrospectively reviewed. PAVMs embolized during this time-period were evaluated for recurrence. Patients and PAVMs not treated during this time-period were excluded...

No abstract text is available yet for this article.

Vein of Galen malformations (VGAMs) are rare and complex congenital brain vascular anomalies that pose significant diagnostic and treatment challenges. The natural history of this type of vascular anomaly is very poor, with many patients succumbing to complications such as congestive heart failure, hydrocephalus, and brain parenchymal injury. Although the clinical course of most VGAMs was considered unfortunate, with meticulous imaging, a group of lesions with a more placid presentation and course can be identified...

Hemangiomas are benign soft tissue tumors which are congenital and occur due to abnormal proliferations of blood vessels. Most common location of hemangiomas is subcutaneous adipose tissue, but skeletal muscle hemangiomas are very rare which make up to 0.8% of all hemangiomas. Usually, the intramuscular lesions are common in thigh region and calf muscles and are relatively rare in the facial muscles. Long-standing lesions results in phleboliths, and this may cause some symptoms. Conventional treatment of these isolated lesions may not yield satisfactory results...

INTRODUCTION: Cavernomas are vascular lesions with a genetic heritage that can be spotted on the central nervous system. Whenever these lesions are localized in eloquent regions, surgical resection is not recommended. In this type of situation, Gamma Knife stereotactic radiosurgery (GKRS) could be a feasible option for treating patients. Thus, we aim to explore the outcomes associated with this procedure. METHODS: We performed a systematic review and meta-analysis of reconstructed time-to-event data based on Kaplan-Meier curves...

BACKGROUND AND IMPORTANCE: Cognard type V fistula (CVF) is a rare type of dural arteriovenous fistula characterized by spinal perimedullary venous drainage. Owing to the lack of pathognomonic findings, misdiagnosis is common. Patients often undergo multiple spinal angiograms negative for spinal vascular malformations. Digital subtraction angiography is the gold standard diagnostic tool. The preferred treatment option is endovascular management with embolization through a transarterial, transvenous, or combined approach...

Vascular anomalies broadly include vascular tumours and malformations. Arteriovenous malformations (AVM), though rare in the oral and maxillofacial regions, can present with swelling, facial asymmetry, ulceration, and bleeding tendencies, which can be life-threatening. Thus, to minimise the associated life-threatening consequences, prompt and appropriate diagnosis of the lesion is necessitated. The management of the AVM is a therapeutic challenge for maxillofacial surgeons; however, technological advances in interventional radiology have gained a foothold...

BACKGROUND: Aneurysmal bone cysts (ABCs) are aggressive, expansile, and locally destructive vascular lesions. The exact etiology of ABCs is currently unknown and hypothesized to be related to vascular malformations or disruption of osseous vascularity. To date, there have been no reports describing the development of pubic ABCs following penile inversion vaginoplasty (PIV). METHODS: This report describes the development of a pubic ABC in a transgender patient who had previously undergone PIV, possibly indicating a very rare complication of this gender-affirming operation...