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更新于：2025-05-07

Glomus Vagale Tumors

血管球迷走神经肿瘤

更新于：2025-05-07

基本信息

别名

GLOMANGIOMAS, MULTIPLE、GLOMUS TUMORS, MULTIPLE、GLOMUVENOUS MALFORMATIONS

+ [16]

简介

Hereditary vascular malformations featuring the presence of small, multifocal bluish-purple venous lesions involving the skin. May be present at birth, and slowly expand during childhood. New small lesions appear with time. Often painful on palpation and cannot be completely emptied by compression. They are usually multifocal and are located mainly on the extremities, involving the skin and subcutis. Caused by mutations in the gene encoding glomulin and inherited in an autosomal dominant manner.

关联

项与血管球迷走神经肿瘤相关的药物

VT-30

靶点

PI3Kα

作用机制

PI3Kα抑制剂

在研机构-

原研机构

Venthera, Inc.

在研适应症-

非在研适应症

血管球迷走神经肿瘤 [+3]

最高研发阶段终止

首次获批国家/地区-

首次获批日期1800-01-20

项与血管球迷走神经肿瘤相关的临床试验

JPRN-jRCT2041230064

/ Not yet recruiting临床3期IIT

Phase III confirmatory study of KP-001 in patients with venous malformation, lymphatic malformation and Klippel-Trenaunay Syndrome

开始日期2023-08-03

申办/合作机构-

NCT05563831

/ RecruitingN/AIIT

Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.

开始日期2023-02-21

申办/合作机构

Institut National de la Santé et de la Recherche Médicale

NCT04861064

/ Recruiting临床2期IIT

Weekly Sirolimus Therapy for the Treatment of Venous and Lymphatic Malformations

In current practice, options for venous and lymphatic malformations remain limited. Recently an oral medication, sirolimus, has been found to benefit patients when taken once or twice a day for several months. Unfortunately there are many side effects associated with this medication, some of which can be severe including, neutropenia, oral ulcerations, and lab abnormalities. The purpose of this study is to determine if once weekly dosed sirolimus will be effective for the treatment of venous and lymphatic malformations. Additionally, the study will evaluate patient satisfaction and identify adverse effects. Participants will be on the medication for 6 months with an option to continue after this time period.

开始日期2022-01-18

申办/合作机构

The Medical University of South Carolina

100 项与血管球迷走神经肿瘤相关的临床结果

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100 项与血管球迷走神经肿瘤相关的转化医学

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0 项与血管球迷走神经肿瘤相关的专利（医药）

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352

项与血管球迷走神经肿瘤相关的文献（医药）

2025-03-12·Cureus

Diagnosis and Excision of Glomangioma of the Lower Extremity

Article

作者: Lambroussis, Constantino G ; Deshmukh, Ishan ; Patel, Aaryan ; Merchant, Abbas ; Jones, Robert ; Jonna, Venkatasai

Glomangiomas are rare, benign vascular tumors originating from the specialized arteriovenous structure known as the glomus body. These tumors typically occur in subungual or digital locations, such as the fingers and toes. However, extradigital glomangiomas, which develop in other areas of the body, are much less common. When present in atypical sites, these lesions often mimic more prevalent subcutaneous abnormalities, such as sebaceous cysts, lipomas, or dermatofibromas, posing significant diagnostic challenges for clinicians. The nonspecific clinical features of extradigital glomangiomas, particularly the absence of hallmark symptoms like severe localized pain or hypersensitivity, can further complicate the diagnostic process. This case report describes a 67-year-old male who presented with a 1-cm soft, mobile, and asymptomatic lesion near the right knee, initially presumed to be a sebaceous cyst. Following unsuccessful drainage attempts, the lesion was surgically excised. Histopathological examination confirmed the diagnosis of a glomangioma, with glomus cells arranged around branching vascular channels and positive staining for smooth muscle actin and vimentin. Glomangiomas should be considered in the differential diagnosis of persistent subcutaneous masses in unusual locations. Greater recognition of these rare lesions can facilitate timely and appropriate management.

2025-03-01·Skeletal Radiology

Musculoskeletal glomus tumor: a review of 218 lesions in 176 patients

Article

作者: Murphey, Mark D ; Kransdorf, Mark J ; Long, Jeremiah R ; Larsen, Brandon T ; Fox, Michael G

OBJECTIVETo review the spectrum of clinical and imaging features of glomus tumor involving the musculoskeletal system including the typically solitary forms as well as the rarer multifocal forms (glomuvenous malformation and glomangiomatosis).MATERIALS AND METHODSA retrospective review of our institutional pathology database from 1996 to 2023 identified 176 patients with 218 confirmed glomus tumors. Primary imaging studies included MRI (125), radiographs (100), clinical/intraoperative photos (77), and ultrasound (36). Lesions were divided into two groups: those that are typically solitary involving specific anatomic areas (finger, toe, soft tissue, coccyx, and bone), and those that are multifocal (glomuvenous malformation and glomangiomatosis).RESULTSThe finger was the most frequently involved anatomic location for the classic (sporadic) glomus tumor occurring in 51% of patients, 77% of which were women, with the nail plate involved in more of the 75% of cases. Sporadic lesions involving the skin, subcutaneous adipose tissue, and deep soft tissue were termed "soft tissue," and were identified in 39% of patients, 90% of which were in the extremities and in men in 81% of cases. The multifocal syndromic forms of glomus disease occurred in younger individuals and involved less than 6% of the study group. Patients with glomuvenous malformation presented early with predominantly cutaneous involvement, while those with glomangiomatosis present later, often with both superficial and deep involvement, and a high rate of local tumor recurrence.CONCLUSIONWhile glomus tumor is generally uncommon, it frequently involves the musculoskeletal extremities. Knowledge of the spectrum of characteristic locations and appearances will facilitate definitive diagnosis.

2025-01-01·Lasers in Surgery and Medicine

Successful Multi‐Modal Laser Intervention and Histopathological Evaluation of Multiple Glomangiomas

Article

作者: Gadarowski, Mary Beth ; Fisher, Craig ; Roberts, Jared ; Hivnor, Chad

ABSTRACTObjectivesGlomangiomas are benign vascular malformations that exist within the spectrum of glomuvenous malformations which consist of varying amounts of glomus cells, vascular spaces, and smooth muscle. Glomangiomas are often treated due to associated pain, particularly when located on pressure areas such as the back or extensor surfaces, which can cause difficulty with certain activities and occupational functions. Histologically glomangiomas consist of prominent dilated vascular spaces lined by glomus cells typically situated in the deep‐dermis to subcutaneous fat which limits treatment to modalities capable of reaching the depth of the tumor including excision, sclerotherapy, and laser therapy. To our knowledge laser treatment of glomangiomas has been reported with Nd:YAG (neodymium‐doped yttrium aluminum garnet), long‐pulsed KTP (potassium‐titanyl‐phosphate), and PDL (pulsed‐dye laser). The objective of our case is to compare the clinical and histologic treatment response of glomangiomas to the 595 nm PDL, 755 nm Alexandrite, and 1064 nm Nd:YAG lasers.Materials and MethodsTwo different laser sessions were performed consisting of PDL (Vbeam Prima Pulsed Dye Laser, Candela), Nd: YAG and Alexandrite (GentleMax Pro, Candela) laser pulses. The GentleMax Pro was utilized for both Nd:YAG and Alexandrite laser pulses as it is capable of functioning in both modalities to deliver 1064 nm and 755 nm wavelengths, respectively. Settings were selected to minimize any risk of potential scarring. Punch biopsies were performed following the second session to assess the histologic response to each laser modality.ResultsTreatment response, as measured by clinical flattening, clearance of obvious blue‐red vascular coloration, and resolution of pain, was noted to be most effective for the Alexandrite and Nd:YAG lasers. Procedural and post‐procedural pain was noted to be the lowest with Alexandrite. Anatomically, greatest degree of clinical flattening, color normalization with surrounding skin, and sustained clearance was noted for glomangiomas located on acral sites and the trunk.ConlusionsOptimal treatment of glomulovenous malformation while minimizing patient discomfort may best be achieved with Alexandrite. The exception would be palmar glomangiomas which appeared to respond better to Nd:YAG.