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Plexiform Neurofibroma

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https://www.readbyqxmd.com/read/29044092/isolated-nonpulsatile-enophthalmos-in-neurofibromatosis-an-uncommon-entity
#1
Swati Singh, Kaustubh Mulay, Vikas Mittal
Isolated enophthalmos is a rarely observed entity in neurofibromatosis (NF). A 12-year-old male presented with right lower eyelid fat prolapse and enophthalmos for the past 7 years. There was no history of antecedent trauma/surgery. Computed tomography of orbit revealed an ill-defined intraconal hyperdense lesion located between lateral and inferior rectus along with an enlarged inferior orbital fissure (IOF). Superior orbital fissure was minimally widened without prolapse of any intracranial contents. Excision biopsy along with repair of widened IOF was performed through inferior transconjunctival route...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29033684/fluorine-18-2-fluoro-2-deoxy-d-glucose-positron-emission-tomography-computed-tomography-masquerading-as-a-case-of-sporadic-malignant-peripheral-nerve-sheath-tumor-of-lower-extremity-presenting-as-massive-lower-limb-edema
#2
Deepa Singh, Rajender Kumar, Ashim Das, Subhash C Varma, Bhagwant R Mittal
Malignant peripheral nerve sheath tumors (MPNSTs) are rare neuroectodermal tumors resulting from the malignant transformation of benign plexiform neurofibromas. The sporadic form of these tumors is rare than familial variants (seen in neurofibromatosis Type 1) and making the diagnosis difficult. We are presenting a case of 40--year-old female with the complaint of progressive swelling of lower limb with initial suspicion of lymphedema and underwent lymphoscintigraphy, magnetic resonance imaging, and finally fluorine-18-2-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scans were done to rule out mitotic etiology and extent of the disease...
October 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28948502/solitary-plexiform-neurofibroma-of-the-hepatic-artery
#3
Guwei Ji, Ke Wang, Chenyu Jiao, Zefa Lu, Xiangcheng Li
No abstract text is available yet for this article.
September 25, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28928977/giant-scalp-plexiform-neurofibroma-associated-with-nf-1
#4
Sunil Munakomi
Herein we report an interesting image of a giant scalp plexiform neurofibroma associated with neurofibromatosis (NF)-1.
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28851321/rare-triad-of-periampullary-carcinoid-duodenal-gastrointestinal-stromal-tumor-and-plexiform-neurofibroma-at-hepatic-hilum-in-neurofibromatosis-type-1-a-case-report
#5
Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni
BACKGROUND: Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare. CASE PRESENTATION: A 66-year-old lady with neurofibromatosis type 1 presented with painless progressive jaundice for six months...
August 29, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28813519/expression-and-inhibition-of-brd4-ezh2-and-top2a-in-neurofibromas-and-malignant-peripheral-nerve-sheath-tumors
#6
Azadeh Amirnasr, Rob M Verdijk, Patricia F van Kuijk, Walter Taal, Stefan Sleijfer, Erik A C Wiemer
Malignant peripheral nerve sheath tumors (MPNST) are rare, highly aggressive sarcomas that can occur spontaneously or from pre-existing plexiform neurofibromas in neurofibromatosis type1 (NF1) patients. MPNSTs have high local recurrence rates, metastasize easily, are generally resistant to therapeutic intervention and frequently fatal for the patient. Novel targeted therapeutic strategies are urgently needed. Standard treatment for patients presenting with advanced disease is doxorubicin based chemotherapy which inhibits the actions of the enzyme topoisomerase IIα (TOP2A)...
2017: PloS One
https://www.readbyqxmd.com/read/28798215/spinal-and-paraspinal-plexiform-neurofibromas-in-patients-with-neurofibromatosis-type-1-a-novel-scoring-system-for-radiological-clinical-correlation
#7
M Mauda-Havakuk, B Shofty, S Ben-Shachar, L Ben-Sira, S Constantini, F Bokstein
BACKGROUND AND PURPOSE: Neurofibromatosis type 1 is a common tumor predisposition syndrome. The aim of this study was to characterize the radiologic presentation of patients with neurofibromatosis type 1 with widespread spinal disease and to correlate it to clinical presentation and outcome. MATERIALS AND METHODS: We conducted a historical cohort study of adult patients with neurofibromatosis type 1 with spinal involvement. Longitudinal clinical evaluation included pain and neurologic deficits...
August 10, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28771999/monitoring-of-plexiform-neurofibroma-in-children-and-adolescents-with-neurofibromatosis-type-1-by-18-f-fdg-pet-imaging-is-it-of-value-in-asymptomatic-patients
#8
Amedeo A Azizi, Irene Slavc, Benjamin Emile Theisen, Ivo Rausch, Michael Weber, Wolfgang Happak, Oskar Aszmann, Azadeh Hojreh, Andreas Peyrl, Gabriele Amann, Thomas M Benkoe, Wolfgang Wadsak, Gregor Kasprian, Anton Staudenherz, Marcus Hacker, Tatjana Traub-Weidinger
PURPOSE: About 10% of patients with neurofibromatosis type 1 (NF-1) develop malignant peripheral nerve sheath tumours (MPNST) mostly arising in plexiform neurofibroma (PN); 15% of MPNST arise in children and adolescents. 2-[(18) F]fluoro-2-deoxy-d-glucose ([(18) F]FDG)-PET (where PET is positron emission tomography) is a sensitive method in differentiating PN and MPNST in symptomatic patients with NF-1. This study assesses the value of [(18) F]FDG-PET imaging in detecting malignant transformation in symptomatic and asymptomatic children with PN...
August 3, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28754004/synergistic-interplay-between-curcumin-and-polyphenol-rich-foods-in-the-mediterranean-diet-therapeutic-prospects-for-neurofibromatosis-1-patients
#9
Teresa Esposito, Carla Schettino, Paola Polverino, Salvatore Allocca, Laura Adelfi, Alessandra D'Amico, Guglielmo Capaldo, Bruno Varriale, Anna Di Salle, Gianfranco Peluso, Giuseppe Sorrentino, Giacomo Lus, Simone Sampaolo, Giuseppe Di Iorio, Mariarosa Anna Beatrice Melone
Neurofibromas are the hallmark lesions in Neurofibromatosis 1 (NF1); these tumors are classified as cutaneous, subcutaneous and plexiform. In contrast to cutaneous and subcutaneous neurofibromas, plexiform neurofibromas can grow quickly and progress to malignancy. Curcumin, a turmeric-derived polyphenol, has been shown to interact with several molecular targets implicated in carcinogenesis. Here, we describe the impact of different dietary patterns, namely Mediterranean diet (MedDiet) compared to the Western diet (WesDiet), both with or without curcumin, on NF1 patients' health...
July 21, 2017: Nutrients
https://www.readbyqxmd.com/read/28736721/oddities-sporadic-neurofibroma-of-the-urinary-bladder-a-case-report
#10
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
#11
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/28681789/an-unexpected-manifestation-of-extensive-plexiform-neurofibroma
#12
Chi-Yung Yeung, Tsung-Ying Li
No abstract text is available yet for this article.
July 2017: Neurology India
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/28623408/plexiform-neurofibroma-causing-an-ossifying-subperiosteal-haematoma-a-rare-case-in-the-tibia-of-an-11-year-old-girl
#14
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
#15
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/28586604/orbital-involvement-in-sinonasal-diseases
#16
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
#17
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
https://www.readbyqxmd.com/read/28558025/doxycycline-potentiates-antitumor-effect-of-5-aminolevulinic-acid-mediated-photodynamic-therapy-in-malignant-peripheral-nerve-sheath-tumor-cells
#18
Ming-Jen Lee, Shih-Hsuan Hung, Mu-Ching Huang, Tsuimin Tsai, Chin-Tin Chen
Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. Some NF1 patients develop benign large plexiform neurofibroma(s) at birth, which can then transform into a malignant peripheral nerve sheath tumor (MPNST). There is no curative treatment for this rapidly progressive and easily metastatic neurofibrosarcoma. Photodynamic therapy (PDT) has been developed as an anti-cancer treatment, and 5-aminolevulinic (ALA) mediated PDT (ALA-PDT) has been used to treat cutaneous skin and oral neoplasms...
2017: PloS One
https://www.readbyqxmd.com/read/28554231/plexiform-neurofibroma-as-a-cause-of-carpal-tunnel-syndrome-in-a-radial-deficiency-patient
#19
Kejia Hu, Hao Ma, Yundong Shen, Ziv Williams, Wendong Xu
We reported a rare peripheral nerve case, a patient developed carpal tunnel syndrome with a history of floating thumb in right hand. The median nerve was found expanded and spindle-shaped and a plexiform neurofibroma was diagnosed. Our case sheds light on anatomy and possible etiological association which may help clinical management.
May 29, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28551330/histopathologic-evaluation-of-atypical-neurofibromatous-tumors-and-their-transformation-into-malignant-peripheral-nerve-sheath-tumor-in-patients-with-neurofibromatosis-1-a-consensus-overview
#20
REVIEW
Markku M Miettinen, Cristina R Antonescu, Christopher D M Fletcher, Aerang Kim, Alexander J Lazar, Martha M Quezado, Karlyne M Reilly, Anat Stemmer-Rachamimov, Douglas R Stewart, David Viskochil, Brigitte Widemann, Arie Perry
Patients with neurofibromatosis 1 (NF1) develop multiple neurofibromas, with 8% to 15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during their lifetime. Prediction of transformation, typically from plexiform neurofibroma, is clinically and histologically challenging. In this overview, after a consensus meeting in October 2016, we outline the histopathologic features and molecular mechanisms involved in the malignant transformation of neurofibromas. Nuclear atypia alone is generally insignificant...
September 2017: Human Pathology
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