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vascularity of neurofibroma

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https://www.readbyqxmd.com/read/29766474/masses-of-developmental-and-genetic-origin-affecting-the-paediatric-craniofacial-skeleton
#1
REVIEW
Salvatore Stefanelli, Pravin Mundada, Anne-Laure Rougemont, Vincent Lenoir, Paolo Scolozzi, Laura Merlini, Minerva Becker
Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract...
May 15, 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29687675/massive-spontaneous-hemothorax-in-patients-with-neurofibromatosis-type-1
#2
Pedro José Gil Vázquez, Andrés Del Amor Arroyo Tristán, Jesús Martínez Baños, Juan Torres Lanzas
Spontaneous hemothorax is an uncommon event that can occur in patients with a history of neurofibromatosis type 1 because of intrathoracic vascular malformations that predispose to aneurysms or bleeding from thoracic tumors. Only 53 cases of this rare association have been reported in the literature since 1975. We described 2 cases: one patient was a 73-year-old man with a right hemothorax secondary to an intercostal neurofibroma; the other was a 35-year-old woman with a left hemothorax secondary to a neurofibroma that compromised the internal mammary artery...
June 2018: Emergencias: Revista de la Sociedad Española de Medicina de Emergencias
https://www.readbyqxmd.com/read/29580726/-white-hemithorax-in-a-young-women-carrying-coffee-and-milk-spots
#3
S Ben Saad, M Abdenadher, M Attia, H Daghfous, F Tritar
INTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology. CASE REPORT: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. The physical examination revealed a right pleuritic syndrome, coffee and milk spots and neurofibromas of the trunk. Biological assessment showed anemia at 6...
March 23, 2018: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29496081/the-endovascular-management-of-neurofibromatosis-associated-aneurysms-a-systematic-review
#4
David Bargiela, Misha M Verkerk, Ian Wee, Kiera Welman, Eugene Ng, Andrew M T L Choong
BACKGROUND: Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture. METHOD: A systematic review was conducted as per the Preferred Reporting Instructions for Systematic Reviews and Meta-analysis (PRISMA) guidelines utilizing PubMed, EMBASE, and Cochrane databases...
March 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29388260/liponeurofibroma-clinicopathological-features-and-histogenesis
#5
Solam Lee, Hana Bak, Sung Ku Ahn
A neurofibroma is a common cutaneous benign tumor of neural origin. Various histological variants have been reported. Recently, sporadic reports of fatty variants have been reported but their clinicopathological features have not been well studied. The purpose of this study was to examine liponeurofibroma, and to report the distinctive clinicopathological features and histogenesis in comparison with the classic form. A retrospective study was performed on 130 cases. Immunohistochemical staining was performed for S100, factor VIIIa, perilipin and vascular endothelial growth factor...
April 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29204240/a-rare-case-of-diffuse-neurofibroma-masquerading-as-a-hemangioma-a-radiological-perspective
#6
Shaista Siddiqui, Zafar Ahmad Khan, Shagufta Wahab, Kafil Akhtar, Farhat Huma Ansari, Nani Lampung
Diffuse neurofibroma is a rarely encountered subtype of neurofibroma but the most common to be misdiagnosed. Its imaging appearance is very similar to that of a vascular malformation, and it is often labelled one until a biopsy proves it to be otherwise. The infrequency of its association with neurofibromatosis makes it a rare and difficult diagnosis. Here, we report the case of a 16-year-old girl who presented with the complaint of a gradually progressive swelling around the right ankle and heel, which was initially diagnosed as a case of a vascular malformation...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29147633/a-unique-case-of-carotid-splaying-by-a-cervical-vagal-neurofibroma-and-the-role-of-neuroradiology-in-surgical-management
#7
Sally A Itawi, Mark Buehler, Robert E Mrak, Tarek R Mansour, Yacine Medhkour, Azedine Medhkour
Carotid splaying, also known as the Lyre sign, is a widening of the carotid bifurcation due to the displacement of the internal carotid artery and the external carotid artery just distal to the point of divergence. This phenomenon is classically exhibited by highly vascularized carotid body tumors and, in rare cases, by cervical sympathetic chain schwannomas. Demonstration of the Lyre sign by a cervical vagal neurofibroma, however, is a unique occurrence that has not been previously documented in the literature...
September 7, 2017: Curēus
https://www.readbyqxmd.com/read/28820281/isolated-cranio-orbitofacial-neurofibroma-mimicking-vascular-malformation
#8
Harinder S Chahal, Brandon Kuiper, Puneet S Braich, A Tyrone Glover
Isolated neurofibromas in the absence of systemic neurofibromatosis are known as solitary or localized neurofibromas. When present in the orbit, these lesions may appear clinically and radiographically similar to other tumors, complicating diagnosis and management. Key radiographic signs may guide clinicians to the correct diagnosis when the presentation and patient demographic data obfuscate the disease entity. We present a case of a large multi-lobulated neurofibroma misdiagnosed as a lymphangioma. A brief review of these tumors emphasizing key radiographic features is also included...
February 2018: Orbit
https://www.readbyqxmd.com/read/28743098/giant-fibro-epithelial-polyp-in-a-young-girl-a-rare-case-report
#9
Anil Kumar, Nadia Hasin, Amit Kumar Sinha, Subhash Kumar, Punam Bhadani
INTRODUCTION: Fibro epithelial Polyp (FEP) is a polypoid outgrowth of epidermis and dermal fibro vascular tissue. This polyp is most commonly found in oral cavity, neck and axilla, though any skin fold may be affected like groin. These polyps are usually less than 5cm in size and rarely occur before 4th decade of life. Excision is the treatment of choice for such lesion. PRESENTATION OF CASE: A 20year old female patient presented with a large pedunculated mass originating from the left groin area extending up to the left knee joint...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28628159/-diagnosis-accuracy-of-fine-needle-aspiration-cytology-for-vascular-anomalies
#10
(no author information available yet)
OBJECTIVE: To evaluate the feasibility of fine-needle aspiration cytology (FNAC) in diagnosing vascular abnormality in oral and maxillofacial region. METHODS: The method of retrospective study was used. The data from the patients who underwent FNAC from 2011 to 2014 in Department of Oral and Maxillofacial Surgery, Peking University School of Stomatology were collected. All the included patients were divided into surgery group and non-surgery group. The patients in surgery group underwent lesion resection and the postoperative pathological results were gained...
June 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28468226/characteristics-of-pediatric-cheek-mass
#11
Ye Seul Eom, So Young Lim
PURPOSE: Patients with cheek mass are often referred to our medical center's department of plastic surgery. Most patients with deep cheek mass have the characteristic of a slowly growing, painless mass. We reviewed the lesion's pathology of this complex anatomic area in the pediatric population, focusing on differential diagnosis and the recent surgical strategies. METHODS: We retrospectively reviewed 56 patients visiting our department from 2009 to 2016. Data analysis included the patients' lesion characteristics, clinical presentation, presumptive diagnosis, results of preoperative investigations, pathological diagnosis, and treatment details...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28405554/arteriovenous-malformation-underlying-a-plexiform-neurofibroma-an-unusual-presentation
#12
Zaheer Abbas, Sepideh Khani, Javad Zare
Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma...
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28398289/a-high-throughput-molecular-data-resource-for-cutaneous-neurofibromas
#13
Sara J C Gosline, Hubert Weinberg, Pamela Knight, Thomas Yu, Xindi Guo, Nripesh Prasad, Angela Jones, Shristi Shrestha, Braden Boone, Shawn E Levy, Salvatore La Rosa, Justin Guinney, Annette Bakker
Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients...
April 11, 2017: Scientific Data
https://www.readbyqxmd.com/read/28387148/malignant-triton-tumor-malignant-peripheral-nerve-sheath-tumor-with-rhabdomyoblastic-differentiation-occurring-in-a-vascularized-free-flap-reconstruction-graft
#14
Roopa Ram, Jerad Gardner, Sindhura Alapati, Kedar Jambhekar, Tarun Pandey, Corey Montgomery, Richard Nicholas
Malignant peripheral nerve sheath tumor (MPNST) is a rare form of sarcoma arising from Schwann cells or pluripotent cells of the neural crest. Malignant triton tumor (MTT) is a subtype of MPNST with a component of malignant rhabdomyoblasts in addition to malignant Schwann cells. MPNST and MTT are both aggressive malignancies that most commonly arise from large deep neurofibromas in patients with neurofibromatosis type 1 (NF-1). However, sporadic non-NF-1 cases of MTT have also been reported in the literature...
April 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28163183/a-femoral-common-vein-aneurysm-in-a-patient-with-neurofibromatosis-syndrome-type-1
#15
Christophe Seinturier, Sophie Blaise, Frédéric Thony, Jean Luc Magne, Gilles Pernod
Neurofibromatosis type I (NFI), also called Von Recklinghausen disease, is an autosomal dominant disease secondary to a genetic mutation on the long arm of chromosome 17. This disorder affects neural crest cells. Cutaneous clinical forms are the most frequent with multiple benign skin neurofibromas, associated with café au lait skin spots and iris hamartomas. Vascular abnormalities in NF1 are rare but have also been well described. The most frequent abnormalities are characterized by arterial aneurysm degeneration, stenosis, and malformations...
April 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28145924/characteristics-of-pediatric-cheek-mass
#16
Ye Seul Eom, So Young Lim
PURPOSE: Patients with cheek mass are often referred to our medical center's department of plastic surgery. Most patients with deep cheek mass have the characteristic of a slowly growing, painless mass. We reviewed the lesion's pathology of this complex anatomic area in the pediatric population, focusing on differential diagnosis and the recent surgical strategies. METHODS: We retrospectively reviewed 56 patients visiting our department from 2009 to 2016. Data analysis included the patients' lesion characteristics, clinical presentation, presumptive diagnosis, results of preoperative investigations, pathological diagnosis, and treatment details...
January 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27942480/diagnostic-imaging-of-benign-and-malignant-neck-masses-in-children-a-pictorial-review
#17
REVIEW
Ruth Elizabeth Brown, Srikrishna Harave
Neck masses are frequently encountered in pediatric medicine, and can present a diagnostic dilemma for the clinicians involved. There are several means by which neck masses in children can be subdivided, for example by age at presentation, anatomical location including compartments and fascia of the neck, their classical appearance when imaged, or by etiology. When imaging children the clinicians must be mindful of radiation exposure and as such ultrasound (US) is often attempted first. Cross sectional imaging can be helpful for problem solving with CT being particularly useful for assessing the patient in more acute scenarios, for example when there is airway compromise...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27625246/evaluation-of-peripheral-nerve-lesions-with-high-resolution-ultrasonography-and-color-doppler
#18
Muhammed Afsal, Veena Chowdhury, Anjali Prakash, Sapna Singh, Neera Chowdhury
PURPOSE: Traditionally, peripheral nerve lesions are diagnosed on the basis of clinical history, physical examination, and electrophysiological studies, and the role of imaging studies has been limited. The purpose of the study was to assess the usefulness of sonography in diagnosing peripheral nerve lesions. MATERIALS AND METHODS: Thirty adult patients with peripheral nerve lesion/s and 30 healthy adult volunteers were included in the study, and sonography of the relevant peripheral nerve/s was done...
September 2016: Neurology India
https://www.readbyqxmd.com/read/27518244/ruptured-left-external-carotid-artery-aneurysm-presenting-as-upper-airway-obstruction-in-von-recklinghausen-s-disease
#19
Hajar Souldi, Mohammed Yahya Bajja, Meriem Chenguir, RedaLah Abada, Samy Rouadi, Mohammed Roubal, Mohammed Mahtar
INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café-au-lait macules, neurofibromas, and iris hamartomas. Carotid artery aneurysms rarely affect patients with NF-1 but may be associated with rupture. We report the first episode of a ruptured external carotid aneurysm with severe life-threatening airway obstruction in a NF-1 patient. PRESENTATION OF CASE: We report a case of NF-1 32-year-old woman admitted to our department for life-threatening upper airway obstruction caused by spontaneous expanding swelling in the left sided neck...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27497331/sudden-death-due-to-rupture-of-the-right-internal-carotid-artery-in-neurofibromatosis-type-1-a-case-report
#20
Yue Liang, Fang Tong, Lin Zhang, Wenhe Li, Yiwu Zhou
Vascular involvement is a well-recognized manifestation of neurofibromatosis type 1 (NF1) which has the potential to be fatal when disrupted. We here present a case of sudden death due to the fatal arterial rupture resulted from infiltration of the neurofibromas. A 42-year-old man who suffered from NF1 presented a 1-h history of sudden onset of pain in his right cervical region. His condition worsened and became unconscious on his way to the emergency room. Despite resuscitation efforts, he died 30min later without regaining consciousness...
July 2016: Legal Medicine
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