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Facial venous malformation

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
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
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...
August 17, 2016: American Journal of Medical Genetics. Part A
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
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
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
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
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
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
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
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
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
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
N Sigaux, L Viremouneix, L Guibaud, P Breton
Management of vascular malformations and vascular tumors has recently been maximized by the establishment of an accurate clinical and histological classification and by the development of multidisciplinary expert consultations. Head and neck localizations of venous malformations are common, thus maxillo-facial surgeons should be aware of the characteristics of this pathology and the principles of its management. Diagnosis is mainly clinical and must be certified by Doppler-ultrasonography and contrast enhanced magnetic resonance imaging with T2 fat-saturation sequence...
September 2015: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
Nadia Theologie-Lygidakis, Ourania Schoinohoriti, Fotios Tzermpos, Panos Christopoulos, Ioannis Iatrou
BACKGROUND: Intraosseous vascular malformations represent a rare clinical entity of the facial skeleton. The purpose of the current study was to present our experience in a Greek paediatric population and propose guidelines for the treatment of these jaws anomalies in children and adolescents. METHODS: A retrospective study (from 2009 to 2014) was performed to investigate the features and management of the intraosseous vascular anomalies in a Greek paediatric population...
April 2015: Journal of Oral & Maxillofacial Research
A Giesemann, E Hofmann
The temporal bone has a highly complex anatomical structure, in which the sensory organs of the cochlea and the vestibular system are contained within a small space together with the sound-conducting system of the middle ear. Detailed imaging is thus required in this anatomical area. There are a great many clinical aims for which the highest-possible spatial resolution is required. These include the localization of cerebrospinal fluid fistulas, the detection of malformations of the middle and inner ear and the vestibulocochlear nerve, an aberrant course of the facial nerve and anomalies of the arterial and venous structures, the confirmation of dehiscence of the semicircular canals and finally, the verification of endolymphatic hydrops in cases of Ménière's disease...
October 2015: Clinical Neuroradiology
Halil Huseyin Cagatay, Metin Ekinci, Selam Yekta Sendul, Ceylan Uslu, Mehmet Demir, Sıtkı Mert Ulusay, Ender Uysal, Selma Seker
Aqueous outflow via the conventional outflow pathway is dependent on the pressure gradient between intraocular pressure (IOP) and episcleral venous pressure (EVP). Elevated IOP resulting from increased EVP is a well-known complication of arteriovenous fistulas, which are usually between the carotid artery and the cavernous sinus. Arteriovenous malformations usually occur spontaneously, after a trauma or from iatrogenic causes, and they manifest with findings of chemosis, dilatation of the conjunctival vessels, exophthalmos, and extraocular motility limitation...
2014: Case Reports in Ophthalmological Medicine
Shailendra Kumar, Vijay Kumar, Sanjeev Kumar, Surender Kumar
Venous malformations (VMs) are slow-flow vascular malformations, caused by abnormalities in the development of the veins. Venous malformations vary in size and location within the body. When the skin or tissues just under the skin are affected, they appear as slightly blue-colored skin stains or swellings. These can vary in size from time to time because of swelling within the malformation. As these are vascular malformations, they are present at birth and grow proportionately with the child. Venous malformations can be very small to large in size, and sometimes, can involve a significant area within the body, When the venous malformation is well localized, this may cause localized swelling, however, when the venous malformation is more extensive, there may be more widespread swelling of the affected body part...
January 2014: National Journal of Maxillofacial Surgery
Severina Leu, Anton Valavanis, Gerasimos Baltsavias
Langer-Giedion syndrome (LGS) is a rare disease caused by deletion of chromosome 8q23.3-q24.11. Clinical manifestations include among others multiple exostoses, short stature, intellectual disability, and typical facial dysmorphism. Dural arterio-venous shunts (DAVS) in the pediatric age are rare lesions, which have been classified into three types: dural sinus malformations (DSM), infantile type DAVS (IDAVS), and adult type DAVS (ADAVS). We report a case of a patient with a known LGS who was diagnosed with complex intracranial dural AV fistula at the age of 20...
May 2015: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Xiaochuan Huo, Youxiang Li, Chuhan Jiang, Zhongxue Wu
AIM: Most dural arteriovenous fistulas (DAVFs) can be treated safely and effectively with endovascular Onyx embolization. Balloon-assisted endovascular Onyx embolization of intracranial DAVFs is especially suitable for arterial protection and arterial flow reduction in complicated DAVFs. We systemically report our experience in the use of arterial balloon for Onyx embolization of DAVF and evaluate the clinical outcomes. MATERIAL AND METHODS: Clinical records of 12 consecutive DAVFs patients (five women, seven men) treated with arterial balloon-assisted endovascular Onyx embolization were retrospectively collected to analysis their presenting symptoms, angiographic features, endovascular treatments, and clinical outcomes...
2014: Turkish Neurosurgery
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