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Facial venous malformation

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https://www.readbyqxmd.com/read/28328612/complications-after-treatment-of-head-and-neck-venous-malformations-with-sodium-tetradecyl-sulfate-foam
#1
Giacomo Colletti, Alberto Deganello, Alessandro Bardazzi, Raul Mattassi, Pietro Dalmonte, Luca Gazzabin, Francesco Stillo
PURPOSE: The aim of this study was to evaluate complications in patients with head and neck venous malformations (VMs) treated with foam sclerotherapy using sodium tetradecyl sulfate (STS). METHODS: The authors retrospectively evaluated the complications, pain. and degree of satisfaction in 69 consecutive patients affected by cervicofacial VM managed with STS using the Tessari method in a single institution. RESULTS: The average number of procedures for each patient was 2...
March 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28316284/facial-cutaneo-mucosal-venous-malformations-can-develop-independently-of-mutation-of-tek-gene-%C3%AF-but-may-be-associated-with-excessive-expression-of-src-and-p-src
#2
Nabila Brahami, Selvakumar Subramaniam, Moudjahed Saleh Al-Ddafari, Cecile Elkaim, Pierre-Olivier Harmand, Badr-Eddine Sari, Gérard Lefranc, Mourad Aribi
We aimed to search for mutations in the germline and somatic DNA of the TEK gene and to analyze the expression level of Src and phospho-Src (p-Src) in tumor and healthy tissues from patients with facial cutaneo-mucosal venous malformations (VMCM). Eligible patients from twelve families and thirty healthy controls were recruited respectively at the Departments of Stomatology and Oral Surgery, and Transfusion Medicine of Tlemcen University Medical Centre. Immunoblot analyses of Src and p-Src were performed after direct DNA sequencing...
March 20, 2017: Journal of Negative Results in Biomedicine
https://www.readbyqxmd.com/read/28141624/dilated-superior-ophthalmic-vein-clinical-and-radiographic-features-of-113-cases
#3
Christopher R Adam, Carol L Shields, Justin Gutman, H Joon Kim, Brent Hayek, John W Shore, Alexandra Braunstein, Flora Levin, Bryan J Winn, Ivan Vrcek, Ronald Mancini, Craig Linden, Christina Choe, Mithra Gonzalez, David Altschul, Santiago Ortega-Gutierrez, Srinivasan Paramasivam, Johanna T Fifi, Alejandro Berenstein, Vikram Durairaj, Roman Shinder
PURPOSE: Dilated superior ophthalmic vein (SOV) is an uncommon radiographic finding. The authors review the presentation, etiology, radiography, and visual implications of 113 patients with dilated SOV. METHODS: An observational case series and multicenter retrospective chart review were conducted. There were 113 patients with a dilated SOV. Outcome measures included patient demographics, clinical features, radiographic findings, diagnosis, and treatment, and treatment outcomes were assessed...
January 30, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28105097/curative-effects-of-rf-combined-with-dsa-guided-ethanol-sclerotherapy-in-venous-malformations
#4
Xing Wang, Jian Meng, Jie Zhang, Ruihan Wu, Jianmin Gu, Cuiling Shao, Kun Han
The aim of the study was to investigate the clinical effect of radiofrequency (RF) ablation combined with digital subtraction angiography (DSA)-guided anhydrous ethanol injection sclerotherapy in the treatment of high-return flow venous malformation (VM). Forty-one patients who were diagnosed as high-return flow VM with clinical and radiographic evidence were divided into the observation group (n=19) and control group (n=22) by random number table. All the patients received DSA-guided anhydrous ethanol injection sclerotherapy while the patients in the observation group were given RF ablation in addition...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27999514/hemorrhagic-stroke-resulting-from-venous-malformation-at-20-weeks-of-pregnancy
#5
Nicole D Ulrich, Elizabeth R Lapeyre, Robert C Moore
BACKGROUND: Stroke in the pregnant patient is not a common occurrence. Despite its relative rarity, stroke during pregnancy is associated with high morbidity and mortality for both mother and infant. We report the case of a patient who experienced a hemorrhagic stroke during pregnancy because of venous cavernoma. CASE REPORT: A 34-year-old patient, gravida 5 para 1-0-3-1, presented to labor and delivery triage at 21 weeks, 0 days' gestation with the concern of sudden-onset right-sided facial, arm, and leg numbness and weakness...
2016: Ochsner Journal
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#6
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27795889/sturge-weber-syndrome-with-intracerebral-hemorrhage-a-case-report
#7
Masashi Chonan, Yasuhiro Suzuki, Shinya Haryu, Shoji Mashiyama, Teiji Tominaga
INTRODUCTION: Sturge-Weber syndrome (SWS) is a rare congenital disease that affects the brain, skin, and eyes, and is a sporadically occurring neurocutaneous syndrome that affects intracerebral veins, which is associated with venous thrombosis. However, intracranial hemorrhage in patients with SWS is rare. We herein report a rare case of SWS with intracerebral hemorrhage derived from sinus thrombosis. CASE DESCRIPTION: A 62-year-old man suddenly fell into a coma and was admitted to our hospital...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27698872/radial-forearm-and-forehead-flap-reconstruction-following-resection-of-a-nasal-arteriovenous-malformation-a-case-report
#8
Chih-Shin Lin, Yung-Song Lin, Bor-Shyh Lin, Ching-Feng Lien, Ching-Feng Liu
Arteriovenous malformation (AVM) is a structural vascular abnormality in which the arterial vasculature connects with the venous vasculature without capillary connections. AVM confined to the nasal cavity is considerably rare. Blurred vision can be one of the associated symptoms. A combined approach of complete surgical resection with prior superselective embolization is the treatment of choice. Following resection, the reconstruction of facial defects, particularly in the nasal area, is challenging. The present study reports the rare case of a patient with an AVM in the nasal cavity, in which embolization, resection and flap reconstruction were performed...
October 2016: Oncology Letters
https://www.readbyqxmd.com/read/27570240/bevacizumab-and-interferon-reduce-venous-recanalization-following-sclerotherapy
#9
Ann M Kulungowski, Aladdin H Hassanein, Carolyn C Foster, Arin K Greene, Steven J Fishman
PURPOSE: The treatment of venous malformations is difficult because these lesions frequently recur after resection or sclerotherapy. The purpose of this study was to determine whether recanalization of sclerosed venous lumens could be prevented with systemic angiogenic inhibition using bevacizumab or peginterferon alfa-2a. METHODS: To establish an animal model of recanalization of sclerosed facial veins, 18 rabbits had ethanol sclerotherapy of 1 facial vein followed by venography after 4weeks (n=6), 12weeks (n=6), and 24weeks (n=6)...
October 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27530281/an-unusual-presentation-of-kabuki-syndrome-with-orbital-cysts-microphthalmia-and-cholestasis-with-bile-duct-paucity
#10
Nina Bögershausen, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik
Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel KMT2D mutation c...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27257371/ocular-manifestations-of-sturge-weber-syndrome-pathogenesis-diagnosis-and-management
#11
REVIEW
Flavio Mantelli, Alice Bruscolini, Maurizio La Cava, Solmaz Abdolrahimzadeh, Alessandro Lambiase
Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%-70%...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27019697/epileptogenesis-in-neurocutaneous-disorders-with-focus-in-sturge-weber-syndrome
#12
REVIEW
Anna Pinto, Mustafa Sahin, Phillip L Pearl
Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major cause.  GNAQ encodes for an alpha subunit of a heterotrimeric G protein critical to blood vessel development. The earlier the timing of the mutation in development, the more severe the involvement, e...
2016: F1000Research
https://www.readbyqxmd.com/read/26998016/cerebral-venous-malformation-with-meningioma-a-case-report
#13
Qingchun Mu, Kun Zhang, Justin Wang, Arash Sayari, Haiyan Huang
A 43-year-old female patient was admitted to The First Hospital of Jilin University (Changchun, China) on 1st October 2011 with a 10-day history of discontinuous, whole-brain headache and a 1-year history of impaired vision and memory deterioration, accompanied by right facial numbness. Clinical signs and radiological features observed using magnetic resonance imaging (MRI) led to the diagnosis of an intracranial meningioma accompanied by a cerebral venous malformation (CVM). The patient underwent neurosurgical resection of the meningioma, but required no further treatment for the CVM...
March 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/26964511/analysis-of-sturge-weber-syndrome-a-retrospective-study-of-multiple-associated-variables
#14
A I Maraña Pérez, M L Ruiz-Falcó Rojas, V Puertas Martín, J Domínguez Carral, I Carreras Sáez, A Duat Rodríguez, V Sánchez González
INTRODUCTION: Sturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. OBJECTIVES: This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital...
March 7, 2016: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/26848441/outcomes-of-surgical-treatment-of-vascular-anomalies-on-the-vermilion
#15
Sang Min Park, Yong Chan Bae, Jae Woo Lee, Hoon Soo Kim, In Sook Lee
BACKGROUND: The vermilion plays an important role in both the aesthetic and functional aspects of facial anatomy. Due to its structural features, the complete excision of vascular anomalies on the vermilion is challenging, making it difficult to determine the appropriate treatment strategy. Thus, the authors analyzed the results of surgical treatment of vascular anomalies on the vermilion. METHODS: The medical records of 38 patients with vascular anomalies on the vermilion who underwent surgery from 1995 to 2013 were analyzed...
January 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/26834972/case-report-atypical-cornelia-de-lange-syndrome
#16
Vito Leanza, Gabriella Rubbino, Gianluca Leanza
Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000...
2014: F1000Research
https://www.readbyqxmd.com/read/26723834/sclerotherapy-for-low-flow-vascular-malformations-of-the-head-and-neck-a-systematic-review-of-sclerosing-agents
#17
REVIEW
Sophie E R Horbach, Max M Lokhorst, Peerooz Saeed, Claire M F de Goüyon Matignon de Pontouraude, Aniki Rothová, Chantal M A M van der Horst
BACKGROUND: Sclerotherapy has become the gold standard for the first-line therapy of most venous (VMs) and lymphatic malformations (LMs) of the head and neck. Numerous sclerosing agents are used to treat these low-flow vascular malformations; however, to date, it remains unclear which sclerosing agent is superior in terms of effectiveness and safety. METHODS: In a systematic review of the literature (1995-present), we compare the effectiveness and complications of the sclerosing agents most commonly used for cervicocraniofacial VMs and LMs...
March 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/26587526/giant-recurrent-cystic-hygroma-a-case-report
#18
B S Kamath, A S Chatterjee, I Chandorkar, H Bhanushali
Cystic hygroma is a benign lymphatic malformation most commonly occurring in the cervico-facial region. It arises from sequestered lymphatic sacs that fail to communicate with the lymphatico-venous system. Although commonly presenting in paediatric age, cystic hygroma can occur at any age. Recurrent cystic hygroma is a known entity and can result from inadequate excision or specific tumour characteristics. We report such a case of giant recurrent cystic hygroma in the neck in a 14 years old female the surgical management of which was challenging due to the large size, previous adhesions and proximity to vital structures...
April 2014: Journal of the West African College of Surgeons
https://www.readbyqxmd.com/read/26451379/ophthalmic-alterations-in-the-sturge-weber-syndrome-klippel-trenaunay-syndrome-and-the-phakomatosis-pigmentovascularis-an-independent-group-of-conditions
#19
REVIEW
Solmaz Abdolrahimzadeh, Vittorio Scavella, Lorenzo Felli, Filippo Cruciani, Maria Teresa Contestabile, Santi Maria Recupero
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis...
2015: BioMed Research International
https://www.readbyqxmd.com/read/26347847/giant-arteriovenous-malformation-of-the-neck
#20
P A Dieng, P S Ba, M Gaye, S Diatta, M S Diop, E Sene, A G Ciss, A Ndiaye, M Ndiaye
Arteriovenous malformations (AVM) have a wide range of clinical presentations. Operative bleeding is one of the most hazardous complications in the surgical management of high-flow vascular malformations. In the cervical region, the presence of vital vascular structures, such as the carotid artery and jugular vein, may increase this risk. This is a case of massive arteriovenous malformation deforming the neck and the face aspect of this aged lady and growing for several years. A giant mass of the left neck occupied the carotid region and the subclavian region...
2015: Case Reports in Vascular Medicine
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