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Neurofibromas

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https://www.readbyqxmd.com/read/28743098/giant-fibro-epithelial-polyp-in-a-young-girl-a-rare-case-report
#1
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...
July 15, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28736721/oddities-sporadic-neurofibroma-of-the-urinary-bladder-a-case-report
#2
Ahmed S Zugail, Steeve Benadiba, Sophie Ferlicot, Jacques Irani
Neurofibromas of the urinary bladder are an exceedingly rare entity and are considered mostly in conjunction with the disease of neurofibromatosis type 1. The fortuitous discovery of vesical plexiform neurofibromas without other stigmata of the disease is presented in a 57-year-old male patient. The course of his condition, modalities of investigation and a non-precedent treatment plan are demonstrated.
September 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28723766/lady-with-wings-a-case-report-of-giant-neurofibromatosis-type-i
#3
Suraj Maharjan, Xiucun Li, Jianli Cui, Yang Liu, Laijin Lu
RATIONALE: Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2. PATIENT CONCERNS: A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood. DIAGNOSIS: A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28720995/tuberculosis-the-great-masquerader-presenting-as-a-dumb-bell-shaped-intradural-extramedullary-tumor-in-a-20-year-old-female
#4
Mukunth Rajgopalan, Amit Srivastava, Ish K Dhammi, Anil K Jain
Tuberculosis has been known as the great masquerader for its varied presentations. We present an extraordinary case of a 20-year-old female who presented with paraparesis of two months. MRI showed an intradural, extramedullary dumb-bell-shaped, spinal cord tumor. With a provisional clinicoradiological diagnosis of benign nerve sheath tumor (schwannoma/neurofibroma), laminectomy was done. But after durotomy, frank pus was drained from the site of lesion and the laboratory investigations of the tissue and pus obtained proved it to be tubercular...
April 2017: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28719433/cutaneous-atypical-neurofibroma-a-case-report-and-review-of-literature
#5
Nima Mesbah Ardakani, Ferlin Yap, Benjamin A Wood
No abstract text is available yet for this article.
July 13, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28690538/cutaneous-neurofibroma-of-the-lacrimal-caruncule-a-case-report
#6
Mario Motta, Mauro Geller, Cesar Motta
We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma.
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28689684/-ectopic-thymus-a-rare-cause-of-neck-mass-in-children
#7
S Kallel, M Mnejja, M Kessentini, A Ben Said, I Charfeddine, B Hammami, A Ghorbel
INTRODUCTION: Ectopic cervical thymus (ECT) is a rare embryological abnormality in children. It can be revealed by a compressive neck mass mistaken for a malignant tumor. Through a new case of ECT, we review the embryopathogenesis, diagnostic difficulties and therapeutic features. CLINICAL OBSERVATION: A 19-month-old girl presented a right cervical mass that quickly increased in size, causing intermittent dyspnea. The physical examination objectified a 6-cm, soft and compressible, painless right cervical tumefaction, extending from the mastoid area to the ipsilateral supraclavicular fossa...
July 6, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28686119/management-of-peripheral-nerve-sheath-tumors-17-years-of-experience-at-toronto-western-hospital
#8
Daipayan Guha, Benjamin Davidson, Mustafa Nadi, Naif M Alotaibi, Michael G Fehlings, Fred Gentili, Taufik A Valiante, Charles H Tator, Michael Tymianski, Abhijit Guha, Gelareh Zadeh
OBJECTIVE A surgical series of 201 benign and malignant peripheral nerve sheath tumors (PNSTs) was assessed to characterize the anatomical and clinical presentation of tumors and identify predictors of neurological outcome, recurrence, and extent of resection. METHODS All surgically treated PNSTs from the Division of Neurosurgery at Toronto Western Hospital from 1993 to 2010 were reviewed retrospectively. Data were collected on patient demographics, clinical presentation, surgical technique, extent of resection, postoperative neurological outcomes, and recurrence...
July 7, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28681789/an-unexpected-manifestation-of-extensive-plexiform-neurofibroma
#9
Chi-Yung Yeung, Tsung-Ying Li
No abstract text is available yet for this article.
July 2017: Neurology India
https://www.readbyqxmd.com/read/28666606/gastrointestinal-bleeding-caused-by-neurofibroma-of-the-ileum
#10
Cristina Samartín Toimil, Ana María Gay Fernández, Antoni Tardío Baiges, Juan Carlos Primo Álvarez, Jose Enrique Casal Núñez
No abstract text is available yet for this article.
June 27, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28647116/peripheral-nerve-sheath-tumors-of-the-breast
#11
REVIEW
Vivek Charu, Ashley Cimino-Mathews
Benign and malignant peripheral nerve sheath tumors can involve the breast, presenting as masses in the dermis, deep breast parenchyma or axillary soft tissue. Although the histologic features are frequently characteristic, diagnosis can be challenging on core needle biopsy, and the differential diagnosis includes a variety of other benign and malignant spindle cell lesions of the breast. Here, we review the key clinical and pathological features of breast schwannoma, neurofibroma, granular cell tumor, and malignant peripheral nerve sheath tumor...
May 27, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28637487/the-nf1-somatic-mutational-landscape-in-sporadic-human-cancers
#12
REVIEW
Charlotte Philpott, Hannah Tovell, Ian M Frayling, David N Cooper, Meena Upadhyaya
BACKGROUND: Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The major known function of the NF1 gene product neurofibromin is to downregulate RAS. NF1 exhibits variable clinical expression and is characterized by benign cutaneous lesions including neurofibromas and café-au-lait macules, as well as a predisposition to various types of malignancy, such as breast cancer and leukaemia...
June 21, 2017: Human Genomics
https://www.readbyqxmd.com/read/28634493/an-exceptional-case-of-intraparotid-plexiform-neurofibroma-originating-from-autonomic-fibers-of-the-auriculotemporal-nerve
#13
Sarantis Blioskas, Sotiris Sotiriou, Katerina Rizou, Triantafyllia Koletsa, Petros Karkos, Anna Kalogera-Fountzila, Konstantinos Markou
Plexiform neurofibromas are benign tumors that tend to occur in patients suffering from neurofibromatosis type 1 (NF-1). This report addresses a rare case where the tumor affected the parotid gland, deriving almost exclusively from the peripheral portion of the facial nerve. A 6-year-old male was referred to us complaining about a gradually enlarging swelling over the right parotid area. Imaging localized the lesion to the superficial lobe of the parotid gland, suggesting a neurofibroma. Cosmetic disfigurement and a functional deficit led us to perform complete surgical resection...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28628159/-diagnosis-accuracy-of-fine-needle-aspiration-cytology-for-vascular-anomalies
#14
(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/28624667/schwannoma-and-neurofibroma-of-the-posterior-tibial-nerve-presenting-as-tarsal-tunnel-syndrome-review-of-the-literature-with-two-case-reports
#15
REVIEW
Makgabo John Tladi, Nikiforos Pandelis Saragas, Paulo Norberto Ferrao, Andrew Strydom
BACKGROUND: Hallux valgus is the lateral deviation of the great toe at the MTPJ that has many attributing aetiologies. This study will aim to identify whether hallux valgus progresses over time in the oriental Chinese population in Hong Kong. METHODS: Patients with acquired symptomatic hallux valgus who presented to clinic between 2008 and 2013 were included. The deformities were analysed radiologically at presentation and pre-operative and angles were measured...
March 30, 2017: Foot
https://www.readbyqxmd.com/read/28623408/plexiform-neurofibroma-causing-an-ossifying-subperiosteal-haematoma-a-rare-case-in-the-tibia-of-an-11-year-old-girl
#16
Anton Lavell, Christopher W Jones, Daniel Wong, Peter Counsel, Richard Carey-Smith
Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma causing a rapidly growing tibial mass as a result of subperiosteal haemorrhage, in an 11-year-old girl with previously undiagnosed NF-1. This reflects a precursor of the more mature periosteal ossification seen in cases traditionally termed "subperiosteal cysts". A previously well young girl was referred by her general practitioner with an increasingly large, mildly tender, soft lump on the anterior aspect of her right tibia...
June 16, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28611304/immune-profiling-of-nf1-associated-tumors-reveals-histologic-subtype-distinctions-and-heterogeneity-implications-for-immunotherapy
#17
Kellie B Haworth, Michael A Arnold, Christopher R Pierson, Kwangmin Choi, Nicholas D Yeager, Nancy Ratner, Ryan D Roberts, Jonathan L Finlay, Timothy P Cripe
Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28589254/characterisation-of-malignant-peripheral-nerve-sheath-tumours-in-neurofibromatosis-1-using-heterogeneity-analysis-of-18-f-fdg-pet
#18
Gary J R Cook, Eitan Lovat, Muhammad Siddique, Vicky Goh, Rosalie Ferner, Victoria S Warbey
PURPOSE: Measurement of heterogeneity in (18)F-fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET) images is reported to improve tumour phenotyping and response assessment in a number of cancers. We aimed to determine whether measurements of (18)F-FDG heterogeneity could improve differentiation of benign symptomatic neurofibromas from malignant peripheral nerve sheath tumours (MPNSTs). METHODS: (18)F-FDG PET data from a cohort of 54 patients (24 female, 30 male, mean age 35...
June 7, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28586604/orbital-involvement-in-sinonasal-diseases
#19
Zia-Us-Salam Qazi, Sarfraz Latif, Sadia Maqsood Awan
BACKGROUND: Orbital involvement in sinonasal diseases can present as proptosis, ophthalmoplegia or even as blindness due to optic nerve damage. There are a number of sinonasal diseases which can involve eyes. The purpose of this study was to enlist diagnoses of all the patients with sinonasal disease, in which orbit was also involved unilaterally or bilaterally and to analyse the management strategy and final outcome in all the cases. METHODS: Hundred consecutive patients having orbital symptoms along with sinonasal complaints that presented in ENT department of Shaikh Zayed federal postgraduate medical institute were included in our prospective study...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28582370/isolated-neurofibroma-of-the-orbit-case-report-and-literature-review
#20
Puneet S Braich, Jared C Donaldson, Gurtej S Bajaj, William H Bearden
PURPOSE: To summarize the clinical, radiographic, and intraoperative characteristics of isolated neurofibromas of the orbit (INFO) in the literature and report a case of INFO. METHODS: Case report and a systematic review of the literature. RESULTS: A total of 45 patients were identified from 18 previous studies. There was no sex predilection and mean ages were between 32.3 and 40.0 years with a standard deviation of 9.8 to 19.5 years, median age was 32 to 38 years with a range of 1...
June 2, 2017: Ophthalmic Plastic and Reconstructive Surgery
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