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https://www.readbyqxmd.com/read/28931105/neurofibromatosis-type-1-accompanied-by-craniofacial-pain-literature-review-and-descriptive-case
#1
Chunghwan Son, Ji Woon Park
Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area...
September 20, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28928977/giant-scalp-plexiform-neurofibroma-associated-with-nf-1
#2
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/28924675/malignant-triton-tumor-grand-round-presentation-of-a-rare-aggressive-case-thoracolumbar-spine-tumor
#3
Soufiane Ghailane, Sandra Fauquier, Sébastien Lepreux, Jean-Charles Le Huec
INTRODUCTION: We report a rare and aggressive case of malignant triton tumor (MTT) at the thoracolumbar junction with foraminal extension mistreated as schwannoma. MATERIALS AND METHODS: A 70-year-old man with a 2-year history of lower back pain and left L4 radiculopathy with no history of neurofibromatosis. RESULTS: Pre-operative MRI suggested a typical schwannoma. Upon complete marginal resection, histological findings revealed a MTT. The patient presented with a local and regional recurrence and died 10 months after surgery...
September 18, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28892913/candida-albicans-infection-masquerading-as-a-soft-tissue-tumour-diagnosed-by-fine-needle-aspiration-cytology
#4
Krishnappa Amita, Abhishek Mandya Govind, Tony Pechiat, Sanjay Manchaih, Shivshankar Vijay Shankar
A 60-year-old male, diabetic presented with a soft tissue mass over the right forearm of 15 days duration. The swelling was 5 x 3 cm and a clinical diagnosis of neurofibroma was made. Fine Needle Aspiration Cytology (FNAC) was done using standard technique. Smears showed predominantly suppurative inflammation, foreign body giant cells, granulomas and fungal hyphae. KOH mount, culture and germ tube test was positive. Final diagnosis of fungal granuloma was made. Fungal infections should be included in the differential diagnosis of a soft tissue mass lesion...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28891076/natural-course-and-characteristics-of-cutaneous-neurofibromas-in-neurofibromatosis-1
#5
Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida
Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. To clarify the natural course and characteristics of cutaneous neurofibromas, a retrospective study was conducted for 57 NF1 patients who were treated at the Department of Dermatology of Tottori University Hospital between January 2007 and April 2016. For each patient, we investigated the time-dependent changes and the numbers of cutaneous neurofibromas in four body surface regions...
September 11, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28885122/clinicopathological-variables-of-sporadic-schwannomas-of-peripheral-nerve-in-291-patients-and-expression-of-biologically-relevant-markers
#6
Eric D Young, Davis Ingram, William Metcalf-Doetsch, Dilshad Khan, Ghadah Al Sannaa, Francois Le Loarer, Alexander J F Lazar, John Slopis, Keila E Torres, Dina Lev, Raphael E Pollock, Ian E McCutcheon
OBJECTIVE While sporadic peripheral schwannomas (SPSs) are generally well treated with surgery, their biology is not well understood. Consequently, treatment options are limited. The aim of this study was to provide a comprehensive description of SPS. The authors describe clinicopathological features and treatment outcomes of patients harboring these tumors, and they assess expression of biomarkers using a clinically annotated tissue microarray. Together, these data give new insight into the biology and management of SPS...
September 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28882714/combined-minimally-invasive-supraciliary-and-transfacial-approach-for-large-tumors-with-skull-base-and-sinonasal-involvement
#7
Pal Barzo, Zsolt Zador, Mihaly Bodosi, Zsolt Bella, Daniel Jambor, Bela Fulop, Jeno Czigner
BACKGROUND: Tumors invading both the anterior skull base and the sinonasal area have been traditionally accessed via largely invasive open craniofacial approaches. Minimally invasive extended endoscopic endonasal approaches have recently become increasingly available, but have anatomical limitations and require incremental experience and thus high patient volume. Our objective was to assess the applicability of a novel combination of the minimally invasive supraciliary incision and the limited maxillofacial osteotomy as a combined surgical approach for large tumors invading both the anterior skull base and the sinonasal area...
September 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28870819/-type-1-neurofibromatosis-onset-of-two-tumors-before-the-age-of-5years
#8
M Remillieux, C Durand, H Sartelet, C Piolat, E Bourgeois, P Pommier, F Hameury, K Dieterich, D Vidaud, C Perret
Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell proliferation and induces tumor development. Epidemiology of cancer in children with NF1 is very different from the general pediatric population, which requires regular and specific monitoring. Neurofibroma is the most frequent benign tumor. It can be very invalidating depending on the size and location of the tumor...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28867317/extensive-mirror-image-neurofibromas-of-entire-spine-resulting-in-spastic-tetraplegia
#9
Mark Bigder, Paul Szelemej, Neil Berrington
Neurofibromatosis 1 (NF1) is associated with increased incidence of spinal tumors including neurofibromas. The majority of NF1-associated spine neurofibromas are asymptomatic; however, a minority of patients will experience neurologic symptoms that can range from mild paresthesia, radiculopathy, myelopathy, and focal weakness to quadriplegia in extreme cases. We present a 21-year-old male diagnosed with NF1 in infancy and followed for multiple mirror-image neurofibromas involving the entire spine. He was asymptomatic until age 14 when he developed neck pain and progressive tetraplegia with magnetic resonance imaging showing severe cord compression secondary to bilateral C2 neurofibromas...
September 1, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28862066/solitary-neurofibroma-of-the-breast-and-the-man-from-istanbul-syndrome
#10
Esther Cheng, Kartik Viswanathan, Syed Hoda
No abstract text is available yet for this article.
August 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28852451/neurofibromatosis-type-1-and-male-breast-cancer-emerging-risk-factor
#11
Nolan Mann, Truong Ma, Arthur Dalton
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the appearance of cafe au lait spots, neurofibromas and Lisch nodules. There is an established link between NF1 and the development of breast cancer in women; however, due to the rarity of both NF1 and male breast cancer, the same link has yet to be elucidated in men. The concurrent presentation of NF1 and male breast cancer is a very rare phenomenon with only a handful of case descriptions in the literature. To the best of our knowledge, there have only been four other reported cases of NF1 and male breast cancer before ours...
July 2017: Journal of Surgical 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
#12
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/28846462/immunohistochemical-markers-for-prospective-studies-in-neurofibromatosis-1-porcine-models
#13
David K Meyerholz, Georgina K Ofori-Amanfo, Mariah R Leidinger, J Adam Goeken, Rajesh Khanna, Jessica C Sieren, Benjamin W Darbro, Dawn E Quelle, Jill M Weimer
Neurofibromatosis type 1 (NF1) is a common, cancer-predisposing disease caused by mutations in the NF1 tumor gene. Patients with NF1 have an increased risk for benign and malignant tumors of the nervous system (e.g., neurofibromas, malignant peripheral nerve sheath tumors, gliomas) and other tissues (e.g., leukemias, rhabdomyosarcoma, etc.) as well as increased susceptibility to learning disabilities, chronic pain/migraines, hypertension, pigmentary changes, and developmental lesions (e.g., tibial pseudoarthrosis)...
August 1, 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/28842049/management-of-small-bowel-polyps-a-literature-review
#14
REVIEW
Rabia A de Latour, Saikiran M Kilaru, Seth A Gross
Despite the small bowel comprising 90% of the mucosal surface area of the gastrointestinal tract, it is a rare site for neoplasia and only accounts for a little over 3% of the tumors that arise in the digestive tract. Benign small bowel lesions include lipomas, lymphangiomas, leiomyomas, neurofibromas, nodular lymphoid hyperplasia and adenomas, many of which are precursors to malignant lesions. Several polyposis syndromes are associated with small bowel polyps as well, including familial adenomatous polyposis syndrome, lynch syndrome, Peutz-Jeghers syndrome, Cowden syndrome and juvenile polyposis syndrome...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28835241/rectal-carcinoma-and-multiple-gastrointestinal-stromal-tumors-gist-of-the-small-intestine-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#15
Yuhei Hakozaki, Shinichi Sameshima, Teppei Tatsuoka, Takashi Okuyama, Yukinori Yamagata, Tamaki Noie, Masatoshi Oya, Akiko Fujii, Yoshihiko Ueda, Chieko Shimura, Kazumoto Katagiri
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomally dominant inherited disorder characterized by multiple pigmented skin spots (café-au-lait spots) and neurofibroma. NF1 is associated with a wide variety of benign or malignant tumors. We report a NF1 patient who received surgical treatment for rectal carcinoma and multifocal small intestinal gastrointestinal stromal tumors (GISTs). CASE PRESENTATION: A 70-year-old female patient with NF1 was referred to our hospital after a positive fecal occult blood test...
August 23, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28834833/differential-diagnosis-between-nasal-septal-schwannoma-and-nasal-septal-neurofibroma
#16
Hyun Jin Min, Kyung Soo Kim
Recently, as the authors experienced nasal septal schwannoma and nasal septal neurofibroma with similar clinical symptoms but different endoscopic findings, the authors tried to review all the literatures previously reported on the "Nasal septal schwannoma and Nasal septal neurofibroma." The aim of this study is to thoroughly review previously reported patients with nasal septal schwannomas and neurofibromas and to describe similar and different features focusing on the differential diagnosis between the 2 entities...
August 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28821978/assessment-of-paraspinal-neurogenic-tumors-with-diffusion-weighted-mr-imaging
#17
Ahmed Abdel Khalek Abdel Razek, Germeen Albair Ashmalla
PURPOSE: To assess paraspinal neurogenic tumors with diffusion-weighted MR imaging. METHODS: Retrospective analysis was done upon 34 patients with paraspinal neurogenic tumors that underwent diffusion-weighted MR imaging. The ADC values of the mediastinal neurogenic tumors were calculated and correlated with biopsy results. RESULTS: The ADC of benign paraspinal neurogenic tumors (1.5 ± 0.28 × 10(-3) mm(2)/s) was significantly higher (P = 0...
August 18, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28820281/isolated-cranio-orbitofacial-neurofibroma-mimicking-vascular-malformation
#18
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...
August 18, 2017: Orbit
https://www.readbyqxmd.com/read/28813519/expression-and-inhibition-of-brd4-ezh2-and-top2a-in-neurofibromas-and-malignant-peripheral-nerve-sheath-tumors
#19
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/28808608/intrathecal-catheter-associated-inflammatory-mass-in-a-neurofibromatosis-type-1-patient-receiving-fentanyl-and-bupivacaine
#20
Derek G Southwell, Joseph A Osorio, Christopher S Liverman, Lauren M Friedman, Ramana K Naidu, Lawrence R Poree, Melanie M Henry, Line Jacques
BACKGROUND: Catheter-associated inflammatory masses (CIMs) are a rare but serious complication of intrathecal drug delivery devices. CIM formation is influenced by local medication concentration, which is determined in part by flow dynamics at the catheter tip. Underlying spinal pathologies, such as neoplasms, may alter flow at the catheter tip, thereby contributing to CIM formation. Moreover, they may also complicate the clinical and radiologic diagnosis of a CIM. CASE DESCRIPTION: A 36-year-old man with neurofibromatosis type 1 presented to our emergency department with complaints of increased back pain and leg weakness...
2017: Surgical Neurology International
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