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The accurate diagnosis of vascular anomalies (VAs) is considered a challenging endeavor. Misdiagnosis of VAs can lead clinicians in the wrong direction, such as the performance of an unnecessary biopsy or inappropriate surgical procedures, which can potentially lead to unforeseen consequences and increase the risk of patient injury. The purpose of the present study was to develop an approach for the diagnosis of VAs of the oral and maxillofacial region based on computed tomography (CT), magnetic resonance imaging (MRI) and dynamic contrast‑enhanced MRI (DCE‑MRI). In the present study, the CT and MR images of 87 VAs were examined, and the following imaging features were evaluated: Detectability of the lesion, the periphery of the lesion, the inner nature of the lesion, the density of the lesion on CT, the signal intensity of the lesion on MRI, the detectability of phleboliths and the shape of the lesion. A total of 29 lesions were further evaluated using the contrast index (CI) curves created from the DCE‑MRI images. A diagnostic diagram, which is based on the imaging features of VAs and CI curve patterns, was subsequently extrapolated. The results obtained demonstrated that the VAs were detected more readily by MRI compared with CT, whereas the detectability of phleboliths was superior when using CT compared with MRI. VAs showed a propensity for homogeneous isodensity on CT, whereas, by contrast, they exhibited a propensity for heterogeneous hyperdensity on CE‑CT. VAs also showed a propensity for homogeneous intermediate signal intensity when performing T1‑weighted imaging (T1WI), heterogeneous high signal intensity when performing short tau inversion recovery MRI, and heterogeneous high signal intensity when performing fat‑saturated CE‑T1WI. The CI curves of VAs were found to exhibit a specific pattern: Of the 29 CI curves, 23 (79.3%) showed early weak enhancement, followed by a plateau leading up to 400‑600 sec. An imaging‑based diagnostic diagram was ultimately f

Vascular Anomalies are a heterogenous group of vascular lesions that can be divided, according to the International Society for the Study of Vascular Anomalies Classification, into two main groups : Vascular Tumors and Vascular Malformations. Vascular Malformations can be further subdivided into slow-flow and fast-flow malformations. This clinical and radiological classification allows for a better understanding of vascular anomalies and aims to offer a more precise final diagnosis. Correct diagnosis is essential to propose the best treatment, which traditionally consists of surgery, embolization or sclerotherapy. Since a few years, medical treatment has become an important part of multidisciplinary treatment. Genetic and molecular knowledge of vascular anomalies are increasing rapidly and opens the door for a molecular classification of vascular anomalies according to the underlying pathways involved. The main pathways seem to be: PI3K/AKT/mTOR (PIKopathies) and RAS/RAF/MEK/ERK (RASopathies). Knowing the underlying molecular cascades allows us to use targeted medical therapies. The first part of this article aims to review the vascular anomalies seen in the head and neck region and their underlying molecular causes and involved pathways. The second part will propose an overview of the available targeted therapies based on the affected molecular cascade. This article summarizes theragnostic treatments available in vascular anomalies.

Vascular anomalies are a heterogenous group of vascular lesions that can be divided, according to the International Society for the Study of Vascular Anomalies Classification, into two main groups: vascular tumors and vascular malformations. Vascular malformations can be further subdivided into slow-flow and fast-flow malformations. This clinical and radiological classification allows for a better understanding of vascular anomalies and aims to offer a more precise final diagnosis. Correct diagnosis is essential to propose the best treatment, which traditionally consists of surgery, embolization, or sclerotherapy. Since a few years, medical treatment has become an important part of multidisciplinary treatment. Genetic and molecular knowledge of vascular anomalies are increasing rapidly and opens the door for a molecular classification of vascular anomalies according to the underlying pathways involved. The main pathways seem to be PI3K/AKT/mTOR and RAS/RAF/MEK/ERK. Knowing the underlying molecular cascades allows us to use targeted medical therapies. The first part of this article aims to review the vascular anomalies seen in the head and neck region and their underlying molecular causes and involved pathways. The second part will propose an overview of the available targeted therapies based on the affected molecular cascade. This article summarizes theragnostic treatments available in vascular anomalies.

The coronavirus disease 2019 (COVID-19) global pandemic has resulted in diversion of healthcare resources to the management of patients infected with SARS-CoV-2 virus. Elective interventions and surgical procedures in most countries have been postponed and operating room resources have been diverted to manage the pandemic. The Venous and Lymphatic Triage and Acuity Scale was developed to provide an international standard to rationalise and harmonise the management of patients with venous and lymphatic disorders or vascular anomalies. Triage urgency was determined based on clinical assessment of urgency with which a patient would require medical treatment or surgical intervention. Clinical conditions were classified into six categories of: (1) venous thromboembolism (VTE), (2) chronic venous disease, (3) vascular anomalies, (4) venous trauma, (5) venous compression and (6) lymphatic disease. Triage urgency was categorised into four groups and individual conditions were allocated to each class of triage. These included (1) medical emergencies (requiring immediate attendance), example massive pulmonary embolism; (2) urgent (to be seen as soon as possible), example deep vein thrombosis; (3) semi-urgent (to be attended to within 30–90 days), example highly symptomatic chronic venous disease, and (4) discretionary/non-urgent- (to be seen within 6–12 months), example chronic lymphoedema. Veno

The coronavirus disease 2019 (COVID-19) global pandemic has resulted in diversion of healthcare resources to the management of patients infected with SARS-CoV-2 virus. Elective interventions and surgical procedures in most countries have been postponed and operating room resources have been diverted to manage the pandemic. The Venous and Lymphatic Triage and Acuity Scale was developed to provide an international standard to rationalise and harmonise the management of patients with venous and lymphatic disorders or vascular anomalies. Triage urgency was determined based on clinical assessment of urgency with which a patient would require medical treatment or surgical intervention. Clinical conditions were classified into six categories of: (1) venous thromboembolism (VTE), (2) chronic venous disease, (3) vascular anomalies, (4) venous trauma, (5) venous compression and (6) lymphatic disease. Triage urgency was categorised into four groups and individual conditions were allocated to each class of triage. These included (1) medical emergencies (requiring immediate attendance), example massive pulmonary embolism; (2) urgent (to be seen as soon as possible), example deep vein thrombosis; (3) semiurgent (to be attended to within 30-90 days), example highly symptomatic chronic venous disease, and (4) discretionary/nonurgent- (to be seen within 6-12 months), example chronic lymphoedema. Venous and Lymphatic Triage and Acuity Scale aims to standardise the triage of patients with venous and lymphatic disease or vascular anomalies by providing an international consensus-based classification of clinical categories and triage urgency. The scale may be used during pandemics such as the current COVID-19 crisis but may also be used as a general framework to classify urgency of the listed conditions.

ObjectivesTo determine the prevalence of sleep-disordered breathing (SDB) symptoms among children with head and neck vascular malformations and to compare obstructive sleep apnea (OSA)-18 scores between children with head and neck vascular malformations and children with non-head and neck vascular malformations.Study designRetrospective cohort and prospective cross-sectional studies METHODS: Forty-three pediatric subjects with head and neck vascular malformations evaluated at a tertiary-care multidisciplinary vascular anomalies center were included in a retrospective cohort study. Eighty-three consecutive pediatric subjects with vascular malformations evaluated at the same center were included in the prospective cross-sectional study.ResultsIn the retrospective cohort study, 20 (47%) subjects with head and neck malformations had documented SDB symptoms. Of those with SDB symptoms, five (25%) required long-term tracheotomy. The children with SDB symptoms had greater vascular malformation size, more extensive pharyngeal involvement, greater vascular malformation mass effect on airway, and closer proximity of malformation to airway when compared to children without SDB symptoms. For the prospective cross-sectional study, 23% of pediatric subjects had malformations of the head and neck. Those with head and neck malformations had a higher OSA-18 score and a lower overall quality of life (QOL) score when compared to subjects with non-head and neck malformations.ConclusionNearly half of children with head and neck vascular malformations have SDB symptoms. Children with head and neck vascular malformations have a higher OSA-18 score and lower overall QOL score when compared to children with non-head and neck vascular malformations.Level of evidence4. Laryngoscope, 127:2159-2164, 2017.

ObjectivesTo determine the prevalence of sleep-disordered breathing (SDB) symptoms among children with head and neck vascular malformations and to compare obstructive sleep apnea (OSA)-18 scores between children with head and neck vascular malformations and children with non-head and neck vascular malformations.Study designRetrospective cohort and prospective cross-sectional studies METHODS: Forty-three pediatric subjects with head and neck vascular malformations evaluated at a tertiary-care multidisciplinary vascular anomalies center were included in a retrospective cohort study. Eighty-three consecutive pediatric subjects with vascular malformations evaluated at the same center were included in the prospective cross-sectional study.ResultsIn the retrospective cohort study, 20 (47%) subjects with head and neck malformations had documented SDB symptoms. Of those with SDB symptoms, five (25%) required long-term tracheotomy. The children with SDB symptoms had greater vascular malformation size, more extensive pharyngeal involvement, greater vascular malformation mass effect on airway, and closer proximity of malformation to airway when compared to children without SDB symptoms. For the prospective cross-sectional study, 23% of pediatric subjects had malformations of the head and neck. Those with head and neck malformations had a higher OSA-18 score and a lower overall quality of life (QOL) score when compared to subjects with non-head and neck malformations.ConclusionNearly half of children with head and neck vascular malformations have SDB symptoms. Children with head and neck vascular malformations have a higher OSA-18 score and lower overall QOL score when compared to children with non-head and neck vascular malformations.Level of evidence4. Laryngoscope, 127:2159-2164, 2017.

Venous malformations (VM) are localized defects of angiogenesis, which typically involve the skin, mucosa and subcutis. They are characterized by enlarged venous channels with a relative lack of surrounding smooth muscle cells (SMCs). While mostly sporadic (>98%), 1-2% occur as an autosomal dominantly inherited trait, named cutaneomucosal venous malformation (VMCM). Both forms can be caused by gain-of-function mutations in TEK, encoding the endothelial cell (EC) -specific tyrosine kinase receptor TIE2. Eight different inherited TIE2 changes have been implicated in VMCM, all of which induce a ligand-independent receptor hyperphosphorylation in vitro, from 2- to 30-fold that of the wild-type. The most common of these (10/17 families; 58.8%) is the mildly activating R849W (Publication I). A somatic second-hit was identified in tissue-derived cDNA from a patient carrying the R849W-mutation in the germline. It was located on the wild-type allele and partially deleted the ligand-binding domain of TIE2, resulting in a loss-of-function of the receptor (Publication II). At least 50% of common sporadic VMs are also caused by somatic activating mutations in TIE2. The mutations include a frequent L914F change (85.7%), and a series of double-mutations on the same allele (in cis). Like the inherited changes, all somatic TIE2 mutations cause hyperphosphorylation in vitro. L914F is phosphorylated 12-13 fold the level of wild-type TIE2, 4 times as strongly as R849W. Double-mutants cause higher (roughly additive) levels of chronic phosphorylation as compared to their constituent single-mutant forms. Interestingly, the most common TIE2 mutants (germline R849W and somatic L914F) have distinct but overlapping effects on receptor compartmentalization and translocation in response to angiopoietin-1 (ANGPT1) ligand (Publication II). Global gene expression profiling of human umbilical vein endothelial cells (HUVECs) overexpressing wild-type TIE2, the most frequent “weak” inherited mutant R8, Les malformations veineuses (VM) sont des défauts localisés survenant lors de l'angiogenèse qui impliquent généralement la peau, les muqueuses et l'hypoderme. Elles sont caractérisées par des canaux veineux élargis avec un manque relatif de cellules musculaires lisses (SMC) les entourant. Alors que la plupart des malformations veineuses sont sporadiques (>98%), elles peuvent également se transmettre selon le mode autosomique dominant (1-2%). On parle alors de malformations veineuses mucocutanées (VMCM). Les deux formes sont causées par des mutations du gène TEK, codant un récepteur tyrosine kinase spécifique des cellules endothéliales (EC), TIE2. Toutes les mutations identifiées induisent un gain de fonction du récepteur. Huit changements héréditaires différents dans le gène TEK sont impliqués dans les VMCM. Ils induisent, in vitro, une hyperphosphorylation indépendante du ligand de 2 à 30 fois supérieure à celle du récepteur sauvage. Le changement le plus commun (10/17 familles; 58,8%) est la mutation légèrement autophosphorylante R849W (publication I). Un second-hit somatique a été identifié dans l’ADNc dérivé du tissu d'un patient porteur de la mutation germinale R849W. Il s’agit d’une délétion partielle de l'allèle sauvage entraînant la suppression d’une partie du domaine de liaison au ligand de TIE2. Ceci résulte en une perte de fonction du récepteur (publication II). Au moins 50% des malformations veineuses sporadiques sont également causées par des mutations somatiques activatrices dans TIE2. Les mutations comprennent le changement fréquent L914F (85,7%), et une série de doubles mutations situées sur le même allèle (en cis). Comme les changements héréditaires, toutes les mutations somatiques identifiées dans le gène TEK provoquent une hyperphosphorylation in vitro. Le niveau d’autophosphorylation de L914F est de 12 à 13 fois supérieur à celui du récepteur TIE2 sauvage et donc 4 fois plus élevé que celui de R849W. Les doubles mutations causent un niveau supéri, (SBIM 3) -- UCL, 2012