Classification Of Vascular Anomalies Research Articles

Soft Tissue Vascular Anomalies of the Extremities: A Proposed Diagnostic Approach.

This narrative review aims to summarise the classification of vascular anomalies, their clinical presentation, and their radiological features to propose a diagnostic algorithm to approach patients with suspected soft tissue vascular anomalies of the extremities. The management of vascular anomalies necessitates a multidisciplinary approach. Clinical presentation and physical examination are sufficient in most cases to achieve a correct diagnosis. This is especially true for small congenital lesions of the skin and subcutaneous tissue. Imaging is used for accurate characterization of these lesions, especially in cases of atypical or vague clinical presentation, and to assess extension in cases of lesions that are larger and localized in deeper tissues.

Dermato-Radiological Evaluation of Congenital Limb Overgrowth Vascular Syndromes

Abstract International Society for the Study of Vascular Anomalies classification defines Congenital Limb Overgrowth Vascular Syndromes (CLOS) as a subset of vascular syndromes with other abnormalities that present with unilateral limb overgrowth. It includes Klippel–Trenaunay Syndrome, Parkes–Weber Syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/Skeletal Anomalies/Scoliosis) Syndrome, Proteus Syndrome, PTEN Hamartomatous Syndrome, and Fibroadipose Vascular Anomaly. Due to their rare and complex nature, a multidisciplinary approach to diagnosis and treatment is required. A thorough clinical and radiological workup can go miles in reflecting on the patient’s outcome. Here we report five cases of CLOS with their detailed dermato-radiological profiles.

Fibro-adipose vascular anomaly: A clinico-radiologic review

Fibro-adipose vascular anomaly remains in the ‘provisionally unclassified’ group of the ISSVA classification of vascular anomalies, since being first described in 2014. We present a series of 22 children diagnosed as FAVA, describing the presentation, findings on imaging and treatment strategies at a tertiary care hospital in southern India.

A 16-year retrospective study of vascular anomalies in the head and neck region

SummaryDepending on the diagnostic modality, the classification of vascular anomalies varies and so does the nomenclature. The ‘International Society for the Study of Vascular Anomalies’ (ISSVA) is the most widely accepted classification in the literature and is mainly based on the radiologic and clinical presentation. The aim of this article is to review the clinical practice of diagnosis and treatment of vascular anomalies in the head and neck region in a university hospital, with special focus on the nomenclature.All patients with a vascular anomaly presenting to the department of oral and maxillofacial surgery were reviewed in a retrospective manner. Nomenclature, diagnostic process, lesion characteristics, treatment and outcome were examined. The lesions were (re)classified according to the ISSVA classification.A total of 185 patients were identified, of which 12.4% (n = 23) had a congenital anomaly. After reclassification, the most common lesions were venous malformations (n = 47, 25.4%), followed by lobular capillary hemangiomas (n = 17, 9.2%). A group of 39 anomalies could not be further specified. One hundred and one patients (54,6%) received treatment, of which 93 were treated surgically (92,1% of treated patients). Endovascular treatment was considered in 41 patients but applied in only eight. This strict selection led to a low a complication rate.We provide an overview of the clinical practice in the management of vascular anomalies in a university hospital. The histology report is a source of miscommunication because clinicians use the ISSVA classification, while pathologists use the WHO classification. Every professional involved should be aware of the differences in classification and nomenclature.

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.

A Dynamic Web-based Application for the Classification of Vascular Anomalies

The International Society for the Study of Vascular Anomalies (ISSVA) released the most recent version of the classification of vascular anomalies in 2018.1 This revision of the 2014 classification expanded the scope of clinical entities and included molecular diagnostics. The 2018 report incorporated recent discoveries in the field and was released as a 20-page PDF file navigable through embedded links. The links lead users through the classification hierarchy, and each page lists anomalies, their corresponding genetic mutations (if known), and other details. Further information is found in five appendices in the last seven pages of the report. The document is comprehensive, but the structure has drawbacks in usability, organization, and sustainability. The format is rigid and difficult to update. The vascular anomaly field is new and ever growing. In just the past few years, there have been significant advances in discovering new clinical entities and uncovering the genetic basis for these conditions. The PDF-based classification cannot be updated routinely without reformatting entirely. Therefore, this format is unsustainable as new discoveries are made. The PDF format classification also limits organization, ease of use, and navigability. It includes a hierarchy of anomalies and categories organized into tables with internal page links that are difficult to navigate. The embedded links guide users to various pages throughout the document, which provides a nonlinear and somewhat confusing user experience. Additionally, the format of each page was unique (to accommodate custom information), and this lack of standardization stifles the user experience because of the inconsistent location of relevant information. Finally, the indices store information that cannot be placed on the appropriate PDF pages (because of space limitations), which makes navigating back and forth tedious. The aim for a new format was to streamline the design and solve the limitations of the current PDF format. We engineered an interactive web app format, which sustainably supports future updates. The classification is organized into a tree, with nested expandable nodes containing the anomalies in a hierarchical structure, similar to that of a file explorer. With this format, a user can expand the tree to view individual anomalies, associated information, and the entire hierarchy in a common location. The visual hierarchy provides a natural organization of the classification for a more intuitive experience. The app has a consistent format throughout, and it is easily modified. Minor additions and changes can be implemented quickly, without altering or compromising the framework of the format. The web app supports including additional anomaly-specific data through the use of popover buttons, which improves organization while providing comprehensive information. Popovers may contain clinical and radiological images (Figure 1), footnotes for unusual or exceptional cases (Figure 2), genomic information, and others if necessary. Additionally, we included search functionality via autocomplete “smart” select boxes (Figure 3). The user can search for a specific term by selecting it from an alphabetical list, or by typing into a free text field that limits selection to specific options dynamically. When searching for a specific anomaly, the web app opens the tree to the selected entry while briefly highlighting the entry itself and its parent nodes. Separate selectable dialog boxes allow the user to search genes and abbreviations without navigating away (Figure 4).Figure 1.: Expanded tree view of vascular anomalies classification hierarchy. Image popover shows clinical image of infantile hemangioma.Figure 2.: Popover with additional information about rapidly involuting congenital hemangioma.Figure 3.: Search function opens the tree to the selectable term (arteriovenous malformation in this case), automatically scrolls down the page, and highlights hierarchy.Figure 4.: Gene Search and Abbreviation Search dialog boxes with option filtering and autofill. The search buttons remain affixed to the bottom for easy look-up even as one scrolls up and down the tree. One can lookup terms without losing one’s place in the tree.The tree is rendered dynamically from a single data structure, which allows for flexible modification and efficiency. When data are changed it is instantly reflected in the classification. This makes minor or major alterations feasible and practical, in contrast to labor-intense reformats of PDF releases. The vascular anomaly field is changing rapidly with the recognition of new clinical entities and the identification of genes responsible for disease. This app format allows for real-time classification updates. The web app was created using React, a JavaScript library. It is a mobile-friendly application currently hosted at https://vascularanomalies.net. A pure client-side program, it can be embedded easily on the ISSVA website and updated to reflect any future changes rapidly.

Current classification of vascular anomalies of the head and neck

Vascular anomalies of the head and neck comprise a wide spectrum of phenotypically diverse lesions. Optimal diagnosis and management of these lesions are critically dependent upon establishment of uniform and well-defined histopathologic, clinical, and radiological criteria, but these remain subject of debate. In this paper, we describe the International Society for the Study of Vascular Anomalies classification scheme, which was first published in 1996 and updated in 2014. The strength of this proposal rests on its distinction between vascular malformations and tumors, and is responsible for its wide adoption. This paradigm serves as a developing platform for diagnosis, inter-collegial communication, and treatment, and adhering to it will help clinicians to improve the management of vascular anomalies.

The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.

Vascular anomalies (VAs) are morphogenesis defects of the vascular system (arteries, capillaries, veins, lymphatic vessels) singularly or in complex combinations, sometimes with a severe impact on the quality of life. The progress made in recent years with the identification of the key molecular pathways (PI3K/AKT/mTOR and RAS/BRAF/MAPK/ERK) and the gene mutations that lead to the appearance of VAs has allowed the deciphering of their complex genetic architecture. Understanding these mechanisms is critical both for the correct definition of the phenotype and classification of VAs, as well as for the initiation of an optimal therapy and the development of new targeted therapies. The purpose of this review is to present in synthesis the current data related to the genetic factors involved in the etiology of VAs, as well as the possible directions for future research. We analyzed the data from the literature related to VAs, using databases (Google Scholar, PubMed, MEDLINE, OMIM, MedGen, Orphanet) and ClinicalTrials.gov. The obtained results revealed that the phenotypic variability of VAs is correlated with genetic heterogeneity. The identification of new genetic factors and the molecular mechanisms in which they intervene, will allow the development of modern therapies that act targeted as a personalized therapy. We emphasize the importance of the geneticist in the diagnosis and treatment of VAs, as part of a multidisciplinary team involved in the management of VAs.

Molecular pathways and possible therapies for head and neck 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.

Role of ultrasound and colored Doppler examination in the diagnosis and the classification of the superficial soft tissue vascular anomalies

BackgroundVascular anomalies are congenital lesions of abnormal vascular development, and a primary distinction have to be made between a vascular tumor and a vascular malformation, hemangiomas are considered the commonest vascular tumor, correct diagnosis is imperative for appropriate treatment. In this report, we tried to verify the role of ultrasonography and Doppler examination in the initial diagnosis, the classification of vascular anomalies and in the post-treatment follow-up.Results (main findings)This report included cases of vascular anomalies who attended the interventional radiology department as well as the vascular anomaly clinic in Abo El-Rish hospitals during the period 2019 through 2021. Data of all patients attending the clinic were prospectively examined. Files of 60 cases with vascular anomalies were available for review. The diagnosis of vascular anomalies was done according to their history and characteristic findings at clinical examination as well as U/S and color Doppler examinations, MRI and angiographic studies were done as needed. A significant female predominance was noticed. A significant predominance in the head and neck region was noticed (60%). Treatment was individualized according to each case; propranolol was chosen as the first line of treatment in IH. Intra-lesional steroids injections were done in hemangiomas, and intra-lesional bleomycin was done in venous and lymphatic malformations, endovascular embolization was done in high flow vascular malformations.ConclusionUltrasound and color Doppler examination were effective and accurate methods in the diagnosis, the classification of superficial soft tissue vascular anomalies, the detection of early complications and in the follow-up after different treatment methods applied, it was also beneficial in the exclusion of non-vascular lesions.

ISSVA Classification of Vascular Anomalies and Molecular Biology.

Vascular anomalies include various diseases, which are classified into two types according to the International Society for the Study of Vascular Anomalies (ISSVA) classification: vascular tumors with proliferative changes of endothelial cells, and vascular malformations primarily consisting of structural vascular abnormalities. The most recent ISSVA classifications, published in 2018, detail the causative genes involved in many lesions. Here, we summarize the latest findings on genetic abnormalities, with the presentation of the molecular pathology of vascular anomalies.

A Large Fetal Venous Malformation

A 28-year-old woman was referred to our institution at 35 weeks after an ultrasound diagnosis of an oral fetal lesion. Magnetic resonance showed a mass originating from the anterior part of the tongue with some areas of internal heterogeneity, possibly representing vascular structures. The multidisciplinary team decided to perform a cesarean delivery at 38 weeks. A large, well-defined bluish/purple exophytic mass arising from the apex of the tongue was confirmed right after birth, and a vascular anomaly was suspected. Precocious complete surgical excision and oral motor rehabilitation and feeding were performed. According to the 2018 International Society for the Study of Vascular Anomalies Classification (ISSVA), histological analysis confirmed a venous vascular malformation. Although rare, venous malformations represent the most common type of congenital vascular malformation. They are considered simple and slow-flow vascular malformations. Airway compromise may be a major concern when aerodigestive system involvement is present. Anatomic deformities and their functional and psychosocial impact are also important concerns. Herein, prompt recognition of an oral fetal mass allowed cautious delivery and postnatal management. It highlights the importance of careful prenatal diagnosis in managing potentially life-threatening congenital malformations.

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Primary malignant vascular tumors of the liver in children: Angiosarcoma and epithelioid hemangioendothelioma.

Primary malignant vascular neoplasms of the liver, angiosarcoma and epithelioid hemangioendothelioma, are extremely rare entities in the pediatric population. International Society for the Study of Vascular Anomalies classification system is recommended for the pathologic diagnosis of hepatic vascular lesions in this age group. In this article, we highlight the clinicopathologic characteristics of hepatic angiosarcoma and epithelioid hemangioendothelioma in the pediatric population. Hepatic angiosarcoma in children shows a slight female predominance with an average age of 40 mo at diagnosis. The distinct histologic features include whorls of atypical spindled cells and eosinophilic globules, in addition to the general findings of angiosarcoma. Histologic diagnosis of pediatric hepatic angiosarcoma is not always straightforward, and the diagnostic challenges are discussed in the article. Hepatic epithelioid hemangioendothelioma also demonstrates a female predominance, but is more commonly identified in adolescents (median age at diagnosis: 12 years). Histologically, the lesion is characterized by epithelioid cells and occasional intracytoplasmic lumina with a background of fibromyxoid stroma. While WWTR1-CAMTA1 and YAP1-TFE3 fusions have been associated with epithelioid hemangioendothelioma, there are currently no known signature genetic alterations seen in pediatric hepatic angiosarcoma. Advancement in molecular pathology, particularly for pediatric hepatic angiosarcoma, is necessary for a better understanding of the disease biology, diagnosis, and development of targeted therapies.

Genetics of Vascular Malformations: Current Perspectives

For decades, vascular anomalies are categorized as either vascular tumors or malformations based on their onset, clinical course, radiologic, and histologic features. Owing to the heterogeneity of vascular anomalies, they are frequently misdiagnosed. With the advent of massively parallel next-generation sequencing, the molecular landscape of vascular anomalies is rapidly evolving and recent discoveries have shed light on the genetic basis and classification of these vascular disorders. The genotype-phenotype correlation will provide a more precise classification of vascular anomalies and form the basis for future targeted pharmacologic therapy. Thus far, inhibitor of mTOR, AKT1, and PIK3CA (sirolimus, miransertib, and alpelisib) have promising clinical results. In vascular malformations, majority of sporadic cases are due to somatic mutations that disrupt the main endothelial receptor intracellular signaling pathways, i.e., PIK3CA-AKT-mTOR, RAS - MAPK – ERK, and SMAD signaling pathways. Most of the sporadic vascular malformations are caused by somatic mutations that are acquired after fertilization, instead of being inherited from his parents. In general, this type of mosaicism is not inherited, except when the mutation affects the gonads.

A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.

The field of vascular anomalies has grown tremendously in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Understanding these pathways is critical for the classification of vascular anomalies, patient care, and development of novel therapeutics. The goal of this review is to provide a basic understanding of the classification of vascular anomalies and knowledge of their underlying molecular pathways. Here we provide an organizational framework for phenotype/genotype correlation and subsequent development of a diagnostic and treatment roadmap. With the increasing importance of genetics in the diagnosis and treatment of vascular anomalies, we highlight the importance of clinical geneticists as part of a comprehensive multidisciplinary vascular anomalies team.

New Approaches In The Diagnosis Of Oral Hemangiomas

Scientific work was carried out on the basis of the Tashkent Medical Academy, Department of Surgery (1st city hospital), and Andijan Medical Institute, Department of Oncology from 2015-2020. Clinical material includes 175 patients. The comparison group consisted of 100 patients who were treated in various hospitals in Tashkent and regions of Uzbekistan. According to the classification of vascular anomalies, the majority of patients with benign vascular tumors (DBT) were diagnosed with infantile hemangioma (IG) - 82.0%, congenital hemangioma (VH) - 11.4%, pyogenic granuloma (PG) - 5.8%. Average age of patients: children - 1.2 ± 0.4, adults - 27 ± 1.2 years. The frequency of DSO in girls was 78%, in boys - 22%. Localization area: lip - 57.6%, cheek 8%, tongue 26.3%. Complications of DSO: anatomical disorders, edema, bleeding, pain, infection, respiratory disorders occurred in 83.7% of patients.

Intramuscular vascular malformation in triceps: A case report with literature review

Vascular anomalies comprise a widely heterogeneous group of tumors and malformations. The tendency of radiologists and pathologists to report the intramuscular vascular anomalies as hemangiomas may mislead the treating surgeon which affects the diagnosis and management plan. The International Society for the Study of Vascular Anomalies classification has helped clear the confusion created by interchangeable terminology like hemangioma for such lesions. The vascular tumors may involute with time and deserve a conservative trial, whereas the symptomatic vascular malformations will eventually need surgical intervention. Mass lesions with normal skin without any discoloration, venous engorgement, or inflammatory signs can be easily passed for a lipoma. The high index of suspicion and availability of ultrasound and color Doppler help in the early detection of vascular anomalies. In the case presented herein, the vascular malformation symptomatic for about two decades was excised successfully with a plane of dissection through surrounding normal triceps muscle. This case highlights that the correct classification of vascular anomalies cannot be overemphasized because it guides the management plan according to the type of lesion and helps in setting up a genuine database for scientific research.

Practical Genetic and Biologic Therapeutic Considerations in Vascular Anomalies

Vascular anomalies are classified as either tumors or malformations based on clinical findings rendered through radiologic evaluation, physical exam, and histologic interpretation. These findings comprise the phenotype of the disorder. Recently, advances in the molecular genetics of vascular anomalies have shed light on the genotype of these disorders. These phenotype/genotype characterizations will provide a more precise classification of vascular anomalies and identify potential therapeutic targets for expanded treatment options in the future. In this chapter, we will review the phenotype/genotype characterizations and the possible therapeutic pathways for targeted pharmacologic therapy.

Capillary malformation with segmental distribution and central atrophy: A series of 7 cases

To the Editor: Capillary malformations (CMs) include a wide range of vascular stains with different clinical features, associated findings, and prognosis.1 A clinical classification of CMs,2 correlated with the International Society for the Study of Vascular Anomalies classification, was proposed in 2016 that categorized all CMs into 7 patterns.