KRIT1 ‐positive hyperkeratotic cutaneous capillary venous malformation

2021 ◽  
Author(s):  
Bayan Matarneh ◽  
Catherine E. Cottrell ◽  
Samantha Choi ◽  
Gregory Pearson ◽  
Bonita Fung ◽  
...  
Keyword(s):  
Venous Malformation

Percutaneous sclerotherapy for spongiform venous malformations – analysis of patient-evaluated outcome and satisfaction

VASA ◽  
2017 ◽  
Vol 46 (6) ◽  
pp. 477-483
Author(s):  
Robert Karl Clemens ◽  
Frederic Baumann ◽  
Marc Husmann ◽  
Thomas Oleg Meier ◽  
Christoph Thalhammer ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Medical Records ◽  
Venous Malformation ◽  
Primary Treatment ◽  
Venous Malformations ◽  
Treated Area ◽  
Item Questionnaire ◽  
Percutaneous Sclerotherapy ◽  
Multiple Treatments ◽  
Pain Improvement

Abstract. Background: Congenital venous malformations are frequently treated with sclerotherapy. Primary treatment goal is to control the often size-related symptoms. Functional impairment and aesthetical aspects as well as satisfaction have rarely been evaluated. Patients and methods: Medical records of patients who underwent sclerotherapy of spongiform venous malformations were reviewed and included in this retrospective study. The outcome of sclerotherapy as self-reported by patients was assessed in a 21 item questionnaire. Results: Questionnaires were sent to 166 patients with a total of 327 procedures. Seventy-seven patients (48 %) with a total of 159 procedures (50 %) responded to the survey. Fifty-seven percent of patients were male. The age ranged from 1 to 38.1 years with a median age of 16.4 years. The lower extremities were the most common treated area. Limitations caused by the venous malformation improved in the majority of patients (e.g. pain improvement 87 %, improvement of swelling 83 %) but also worsening of symptoms occurred in a minority of cases. Seventy-seven per cent would undergo sclerotherapy again. Conclusions: Sclerotherapy for treatment of venous malformations results in significant reduction of symptoms. Multiple treatments are often needed, but patients are willing to undergo them.

Arterio-venous malformation in the chest wall: a case report

1991 ◽  
Vol 27 (6) ◽  
pp. 796
Author(s):  
Yun Young Choi ◽  
Kyo Nam Kim ◽  
Heung Suk Seo
Keyword(s):  
Case Report ◽  
Chest Wall ◽  
Venous Malformation ◽  
Arterio Venous Malformation

Intraosseous venous malformation in the anterior mandible: Report of a rare case

2016 ◽  
Vol 3 ◽  
pp. 1-4
Author(s):  
Asha R. Iyengar ◽  
B. V. Subash ◽  
Shalini Dina Simon ◽  
M. H. Vani
Keyword(s):  
Rare Case ◽  
Venous Malformation ◽  
Anterior Mandible

Laryngoscopic KTP Laser Surgery for Adult Hypopharyngolaryngeal Venous Malformation

2013 ◽  
Vol 64 (3) ◽  
pp. 212-218
Author(s):  
Kenichi Watanabe ◽  
Yuuri Okumura ◽  
Koji Hozawa
Keyword(s):  
Laser Surgery ◽  
Venous Malformation ◽  
Ktp Laser

Utility of Sodium Tetradecyl Sulphate for the Management of Oral Venous Malformation

2020 ◽  
Vol 4 (7) ◽  
pp. 127-132
Author(s):  
Krishna Kishor ◽  
Shiv Kishor ◽  
Heera , ◽  
Hiralal Ash ◽  
Kumar Arunesh ◽  
...  
Keyword(s):  
Venous Malformation ◽  
Sodium Tetradecyl Sulphate

Rare Germline GLMN Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling

2020 ◽  
Vol 22 (10) ◽  
pp. 675-682 ◽  
Author(s):  
Jie Yin ◽  
Zhongping Qin ◽  
Kai Wu ◽  
Yufei Zhu ◽  
Landian Hu ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Sanger Sequencing ◽  
Somatic Mutations ◽  
Venous Malformation ◽  
Underlying Disease ◽  
Mtor Signaling ◽  
Functional Effect ◽  
Germline Variants ◽  
Whole Exome

Backgrounds and Objective: Blue rubber bleb nevus syndrome (BRBN) or Bean syndrome is a rare Venous Malformation (VM)-associated disorder, which mostly affects the skin and gastrointestinal tract in early childhood. Somatic mutations in TEK have been identified from BRBN patients; however, the etiology of TEK mutation-negative patients of BRBN need further investigation. Method: Two unrelated sporadic BRBNs and one sporadic VM were firstly screened for any rare nonsilent mutation in TEK by Sanger sequencing and subsequently applied to whole-exome sequencing to identify underlying disease causative variants. Overexpression assay and immunoblotting were used to evaluate the functional effect of the candidate disease causative variants. Results: In the VM case, we identified the known causative somatic mutation in the TEK gene c.2740C>T (p.Leu914Phe). In the BRBN patients, we identified two rare germline variants in GLMN gene c.761C>G (p.Pro254Arg) and c.1630G>T(p.Glu544*). The GLMN-P254R-expressing and GLMN-E544X-expressing HUVECs exhibited increased phosphorylation of mTOR-Ser-2448 in comparison with GLMN-WTexpressing HUVECs in vitro. Conclusion: Our results demonstrated that rare germline variants in GLMN might contribute to the pathogenesis of BRBN. Moreover, abnormal mTOR signaling might be the pathogenesis mechanism underlying the dysfunction of GLMN protein.

scholarly journals Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

2015 ◽  
Vol 125 (9) ◽  
pp. 3491-3504 ◽  
Author(s):  
Elisa Boscolo ◽  
Nisha Limaye ◽  
Lan Huang ◽  
Kyu-Tae Kang ◽  
Julie Soblet ◽  
...  
Keyword(s):  
Murine Model ◽  
Human Subjects ◽  
Venous Malformation

Cavernous venous malformation of the lacrimal gland

2021 ◽  
Author(s):  
T. Mace ◽  
N. Baldini ◽  
A. Rousseau ◽  
D. Haution ◽  
J.-D. Kün-Darbois
Keyword(s):  
Lacrimal Gland ◽  
Venous Malformation

scholarly journals Multidisciplinary Approach to Suspected Sudden Death Caused by Arteriovenous Malformation Rupture: A Case Report

Medicina ◽  
2021 ◽  
Vol 57 (7) ◽  
pp. 644
Author(s):  
Federico Giuseppe Patanè ◽  
Massimiliano Esposito ◽  
Andrea Giovanni Musumeci ◽  
Monica Palermo ◽  
Marco Torrisi ◽  
...  
Keyword(s):  
Arteriovenous Malformation ◽  
Cause Of Death ◽  
Venous Malformation ◽  
Healthy Woman ◽  
Unexpected Death ◽  
Medical Problems ◽  
Variable Diameter ◽  
Life Threatening ◽  
Brain Avms ◽  
The Brain

Arteriovenous malformations (AVMs) are rare congenital conditions with a prevalence of less than 1% and are mostly asymptomatic. However, these malformations can suddenly cause intense pain or bleeding, leading to life-threatening medical problems. This report presents a case of an unexpected death in a 37-year-old previously healthy woman due to an intra-cerebellum arteriovenous malformation rupture identified during autopsy. While infective processes where preliminarily excluded, a Post Mortem Computed Tomography (PMCT) identified a tetra ventricular hemorrhage and intra-cerebellum hemorrhage. Toxicological examination was negative for most substances of abuse. During autopsy an intense hemorrhagic infiltrate in the subarachnoid space was observed. After formalin fixation of the brain the cerebellum showed hemorrhagic infarction on fourth ventricle sides, as well as several small reddish infarctions across the entire cerebellum parenchyma. Histological examination of the brain and cerebellum showed a suffusion of erythrocytes in the sub-arachnoid region. Evidence of an arterio-venous malformation, with several intertwine vessels of variable diameter, surrounded by hemorrhagic evidence. The autopsy played a crucial role in identifying the location and the possibly affected vessel, as well as defining the cause of death. It is necessary to have a greater number of autopsies to make an epidemiological contribution. Furthermore, it is crucial to create a multicenter data network with other authors from other departments to improve information about epidemiological, clinical, diagnostic and therapeutic data. Most brain AVMs as cause of death are often undiscovered.

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