Study Of Vascular Anomalies Classification Research Articles

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.

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.

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.

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.

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.

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.

Imaging Approach to Suspected Vascular Anomalies in Children

The purpose of this review is to become familiar with the terminology and typical presentation of vascular anomalies in children and to present the imaging approach to these anomalies. Vascular anomalies are the most common cause of soft-tissue masses in children. Many physicians are not familiar with the correct terminology for vascular anomalies which results in errors in diagnosis, prognosis, and treatment. The updated International Society for the Study of Vascular Anomalies classification, based on the original Hamburg classification, divides vascular anomalies into two types: vascular tumours (haemangiomas) and vascular malformations (venous, lymphatic, arteriovenous). Grey-scale and Doppler ultrasound (US) are the initial imaging modalities in suspected vascular anomalies. Grey-scale US is highly nonspecific. Therefore, a diagnostic algorithm based on grey-scale and Doppler signs is proposed. Spectral Doppler analysis reveals the type of vascular flow present within the lesion: high-flow is typical for infantile haemangiomas and arteriovenous malformations, low-flow for venous and noflow for lymphatic malformations. Magnetic resonance imaging with angiography is indicated only when US has not been diagnostic, when the lesion is too big or lies too deeply, and when information about the accurate anatomic location and possible infiltration of surrounding structures is necessary. Digital subtraction angiography is performed when interventional treatment is considered. Conclusion − The new terminology of vascular anomalies should be used in everyday clinical practice to avoid misunderstandings. Grey-scale and Doppler US are the most important imaging modalities for the accurate diagnosis and follow-up of vascular anomalies in children.

Image-guided Percutaneous Sclerotherapy of Vascular Malformations of the Male Genitalia - A Retrospective Study

Purpose: Regarding genital lesions, the incidence of male external genitalia vascular anomalies is circa 3%, thereof one-tenth tumors and nine-tenth malformations according to the International Society for the Study of Vascular Anomalies classification. Image-guided percutaneous sclerotherapy in male external genitalia vascular malformations has rarely been described. Therefore, a retrospective analysis of sclerotherapy in a series of eight patients was conducted. Materials and Methods: The study was IRB approved. Two radiologists reviewed angiographic reports and analyzed interventionally treated male patients with external genitalia vascular malformations between February 2, 2014, and November 11, 2017, at an interdisciplinary tertiary care Vascular Anomalies Center. Inclusion criteria were a slow-flow malformation of the male external genitalia and no interventional treatment before. Operations longer than 1-year past were no exclusion criteria. Patients suffered from lymphatic and/or venous malformations and received percutaneous sclerotherapy. Malformations were treated with polidocanol, ethanol in gel form or OK-432. Patients answered a questionnaire regarding symptoms with repeat after follow-up. The initial state and post-treatment results were compared. Magnetic resonance imaging pre- and post-intervention was assessed. Complications were reported standardized. Results: Eight patients with a mean age of 21.6 years suffered from genital swelling, bleeding, thrombophlebitis, lymphorrhea, skin changes, pain, and functional genitourinary symptoms and were treated with sclerotherapy. All patients reported clinical improvement of symptoms during the average follow-up period of 30 months. No complications ensued. Conclusion: Sclerotherapy seems to be a safe and effective treatment of slow-flow malformations of the male external genitalia. Due to the low incidence of the disease, multicenter studies are necessary to assess a larger number of cases.

Guidance Document for Hepatic Hemangioma (Infantile and Congenital) Evaluation and Monitoring

To define the types of hepatic hemangiomas using the updated International Society for the Study of Vascular Anomalies classification and to create a set of guidelines for their diagnostic evaluation and monitoring. We used a rigorous, transparent consensus protocol defined by an approved methodology, with input from multiple pediatric experts in vascular anomalies from hematology-oncology, surgery, pathology, radiology, and gastroenterology. In the first section, we define the subtypes of hepatic hemangiomas based on the clinical course, histology, and radiologic characteristics. We recommend against using the term "hemangioma" for any vascular malformations affecting the liver or any hypervascular tumors that are not characterized by the approved definitions. We recommend against using the term "hemangioendothelioma" for infantile or congenital hemangioma. The following 2 sections dedicated to infantile hepatic hemangioma and to congenital hepatic hemangioma individually describe these subtypes in further detail, including complications to be considered during monitoring and respectively recommended screening evaluations. Although institutional variations may exist for specific clinical details, a clear understanding of the diagnosis of hepatic hemangiomas affecting children and the possible complications that require screening during the monitoring period should be standard. As children with hepatic hemangiomas are managed by different medical and surgical specialties, we offer an expert opinion multidisciplinary consensus based on current literature and on data extracted from the liver hemangioma registry.

Magnetic Resonance Imaging of the Soft Tissue Vascular Anomalies in Torso and Extremities in Children: An Update With 2014 International Society for the Study of Vascular Anomalies Classification.

Vascular anomalies can occur anywhere in the body, and the majority present in the pediatric population. Accurate classification is essential for proper clinical evaluation, particularly because multidisciplinary care is often required. The International Society for the Study of Vascular Anomalies classification offers a comprehensive classification for all subspecialties. In this review article, we present a magnetic resonance imaging protocol with exemplary cases of the most common types of vascular anomalies in the pediatric trunk and extremities using the current International Society for the Study of Vascular Anomalies classification.

International Society for the Study of Vascular Anomalies Classification of Soft Tissue Vascular Anomalies: Survey-Based Assessment of Musculoskeletal Radiologists’ Use in Clinical Practice

There is controversy regarding the diagnosis and classification of vascular anomalies (VA). As torso and extremities are the second most common body part for presentation of VAs, musculoskeletal (MSK) radiologists play a central role in VA classification. The purpose of this study was to evaluate the awareness and clinical use of the International Society for the Study of Vascular Anomalies (ISSVA) classification by MSK radiologists. A Web-based survey was designed and electronically sent to Society of Skeletal Radiology (SSR) members, with 3 questions on demographics and 7 questions on ISSVA classification use and knowledge. The Z-test for binomial proportions is used to assess for statistical significance between subgroups. The response rate was 12% (130 of 1091), comprised of 64% (83 of 130) academic and 36% (47 of 130) nonacademic MSK radiologists. VAs accounted for only a small (0%-5%) proportion of clinical practice in the majority 92% (119 of 130). Only 17% (22 of 130) of MSK radiologists used the ISSVA classification in practice. Of all respondents, 74% (94 of 127) considered hemangioma a type of vascular malformation (VM). There was no significant difference in the response characteristics between academic and nonacademic radiologists. A greater proportion of MSK radiologists with >5 years' experience provided responses that were discordant with the ISSVA classification compared with less experienced radiologists (0-5 years) in diagnosing hemangiomas in adult patients (P = 0.02), and using the presence of phleboliths to diagnose hemangiomas (P = 0.004). Our survey results indicate a lack of familiarity with the ISSVA classification by the MSK radiology community.

Differentiation of vascular tumors from vascular malformations by expression of Wilms tumor 1 gene: Evaluation of 126 cases

Vascular tumors and malformations can be challenging to diagnose. Although they may initially appear very similar, they have distinct clinical courses and management. Wilms tumor 1 (WT1) gene expression has been reported in many different tumors including hematologic malignancies and some solid tumors. We sought to evaluate the expression of WT1 in 126 vascular lesions (64 vascular tumors, one Masson tumor, and 61 vascular malformations). Based on the International Society for the Study of Vascular Anomalies classification of vascular anomalies, we studied the expression of WT1 in vascular tumors composed of infantile hemangioma, congenital hemangiomas (non-involuting, rapidly involuting, and not otherwise specified), pyogenic granuloma, tufted angioma, cherry angioma, Kaposi sarcoma, and angiosarcoma. We also studied WT1 expression in vascular malformations composed of angiokeratoma/verrucous hemangioma, combined vascular malformations, venous malformations, glomuvenous malformations, lymphatic malformations/lymphangioma, telangiectasia, and targetoid hemosiderotic hemangioma. All vascular tumors and proliferations had positive WT1 cytoplasmic endothelial immunostaining whereas only 3 vascular malformations were WT1 positive. Moreover the positivity of WT1 in these vascular malformations was focal and involved only re-endothelialized neovessels within thrombi. The low number of malignant vascular tumors is a limitation. Immunohistochemical detection of WT1 could be a useful tool to routine evaluation of vascular anomalies allowing the distinction of vascular tumors and proliferations from vascular malformations. Staining for WT1 may guide the clinician in difficult cases, as positive results would suggest a proliferative vascular lesion whereas negative results might point to a vascular malformation.

Vascular Anomalies and Lymphedema

After studying this article, the participant should be able to: 1. Define the difference between vascular tumors and malformations. 2. Distinguish between the natural history of hemangiomas and that of vascular malformations. 3. Identify the different types of hemangiomas and vascular malformations and understand evaluation, treatment, and complications. 4. Understand the role of lymphaticovenular anastomoses in the treatment of extremity lymphedema. The International Society for the Study of Vascular Anomalies classification, which is the most widely accepted classification system in use, divides vascular anomalies into vascular tumors (inclusive of hemangiomas) and malformations. This serves as a guideline for diagnosis, evaluation, and treatment of these lesions. Although hemangiomas tend to have a predictable clinical course over the first year of life, going through proliferating, involuting, and involuted stages, vascular malformations demonstrate growth commensurate with age, often becoming more prominent in puberty. In addition, they never regress, and persist throughout life. Different modalities of treatment may be appropriate for vascular tumors and different subsets of vascular malformations. Details are provided in this review. Lymphaticovenular anastomoses provide an excellent addition to our methods of treatment of extremity lymphedema, and are made possible through development of supermicrosurgical techniques. Vascular anomalies have a high prevalence in the general population. Thus, it is vital that the plastic surgeon has a good understanding of classification, evaluation, and treatment options. Lymphedema is another common condition that is encountered. Understanding of lymphaticovenular anastomoses and their applications aids treatment planning for select patients.

Capillary-Lymphatic Malformation, Kaposiform Hemangioendothelioma and Delayed Kasabach-Merritt Phenomenon

According to International Society for the Study of Vascular Anomalies classification, vascular anomalies are mainly divided into two groups: vascular tumors and vascular malformations. Nevertheless, a small group of patients present clinical and/or histopathologic overlapping features. We report a case of a 4-month-old boy that presented a vascular lesion on his right buttock with involvement of abdominal wall muscles, abdominal cavity and drainage to primitive iliac by a tortuous drainage vein. Surgery was performed and histopathology demonstrated a combined vascular malformation. Six months later he developed a thrombocytopenia and repeat magnetic resonance imaging revealed a new solid mass involving the majority of the abdominal cavity. At 18 months of age the patient developed a Kasabach-Merrit phenomenon and treatment with vincristine, interferon and then acetyl-salicilic acid and dypiridamol was started. No response in platelet counts was obtained and one more surgery was perfomed. On this occasion a histopathologic study revealed vascular malformation areas intermingled with areas of kaposiform hemangioendothelioma. This patient demonstrates the Kasabach-Merritt phenomenon with kaposiform hemangioendothelioma arising within a pre-existing combined vascular malformation.

Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations

Familial cerebral cavernous malformations (FCCM) are vascular malformations inherited as an autosomal-dominant condition. Three genes (KRIT1/CCM1, MGC4607/CCM2, PDCD10/CCM3) have been identified so far. Extra-neurological manifestations include retinal and cutaneous vascular malformations. The cutaneous vascular malformation, which had been more specifically associated with FCCM, is hyperkeratotic cutaneous capillary venous malformation (HCCVM). To define the frequency of cutaneous vascular malformations in patients with FCCM, to precise their different phenotypes, and to study the association of each cutaneous vascular malformation subtype with the different three mutated CCM genes. Dermatological inquiry was systematically performed in a large series of consecutive FCCM patients. Cutaneous biopsies were reviewed when available. Cutaneous vascular malformations classification was based on predominant anomalous channels, using the current International Society for the Study of Vascular Anomalies classification. Molecular screening of CCM genes was performed. Results Four hundred seventeen consecutive FCCM patients from 182 unrelated families were included. 38 patients (9%) from 25 different families had cutaneous vascular malformations. In these 38 patients, cutaneous vascular malformations were classified as follows: 13 capillary malformations (CM), 15 HCCVM, 8 venous malformations (VM) and 2 unclassified lesions. All patients (92%), but one with CM had a KRIT1/CCM1 mutation. The last patient had no detectable mutation. All of the 15 patients with HCCVM had a KRIT1/CCM1 mutation; 86.7% of cutaneous vascular malformation patients (33 of 38) had a KRIT1/CCM1 mutation. Cutaneous vascular malformations are seen in 9% of FCCM patients. Three distinct major cutaneous vascular malformations phenotypes were identified: HCCVM (39%), CM (34%) and VM (21%). CCM1 is the most frequently mutated gene in cutaneous vascular malformations-FCCM patients.

Vascular tumors and vascular malformations: Evidence for an association

Background: The International Society for the Study of Vascular Anomalies classification is an updated biologic classification that distinguishes vascular tumors from vascular malformations on the basis of clinical and histologic characteristics and biologic behavior. Objective: We propose that in a minority of cases there is an association between vascular tumors and vascular malformations. Methods: We retrospectively identified clinical cases in our medical centers and others reported in the medical literature that demonstrate an association between vascular tumors and vascular malformation clinically or histologically. Results: We identified several clinical or histologic settings in which vascular tumors and vascular malformations were associated: (1) coexistence of hemangioma and vascular malformation at the same anatomic site or in close proximity; (2) pyogenic granuloma arising within a vascular malformation; (3) hemangioma associated with developmental vascular anomalies; (4) spindle-cell hemangioendothelioma and venous malformation; (5) kaposiform hemangioendothelioma and lymphatic malformation. Conclusion: The biologic classification of vascular birthmarks distinguishing vascular tumors from vascular malformations is clinically useful and forms the framework for our understanding of vascular anomalies. These examples suggest that in a small minority of patients there is an association between vascular tumors and vascular malformations. (J Am Acad Dermatol 2000;42:275-9.)