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Neurofibromas

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https://www.readbyqxmd.com/read/28341644/nerve-ultrasound-a-useful-screening-tool-for-peripheral-nerve-sheath-tumors-in-nf1
#1
Johan A Telleman, Menno D Stellingwerff, Geert J Brekelmans, Leo H Visser
OBJECTIVE: To determine ultrasonographic peripheral nerve involvement in patients with asymptomatic neurofibromatosis type 1 (NF1). METHODS: Thirteen asymptomatic and 4 minimally symptomatic patients with NF1 were included in this cross-sectional pilot study to detect asymptomatic abnormalities of the brachial plexus and upper and lower extremity nerves. Patients underwent clinical examination, nerve conduction studies (NCS), and high-resolution ultrasonography (HRUS)...
March 24, 2017: Neurology
https://www.readbyqxmd.com/read/28340171/immunohistochemical-approach-to-the-differential-diagnosis-of-meningiomas-and-their-mimics
#2
Camille Boulagnon-Rombi, Clémence Fleury, Caroline Fichel, Sophie Lefour, Aude Marchal Bressenot, Guillaume Gauchotte
The differential diagnosis between meningioma and others tumors can be challenging. This study aimed to evaluate different immunohistochemical markers for the differential diagnosis between meningioma and their morphological mimics. Immunohistochemistry was performed on tissue microarray with antiepithelial membrane antigen (EMA), progesterone receptor, somatostatin receptor 2A (SSTR2A), CD34, STAT6, S100, SOX10, HMB45, MelanA, GFAP, inhibin, and BCL2 antibodies. One hundred and twenty-seven meningiomas, 26 solitary fibrous tumor/hemangiopericytomas (SFT/HPC), 39 schwannomas, 17 hemangioblastomas, 21 melanomas, 9 gliosarcomas, 5 neurofibromas, 9 peripheral primitive neuroectodermal tumors, 7 synovial sarcomas, and 5 malignant peripheral nerve sheath tumors were included in the microarray...
March 14, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28329573/a-diagnostic-challenge
#3
D Ismail, G Langman, S D Orpin
A 74 year-old woman presented with a 9 month history of a slowly enlarging exophytic lesion over her left nasal alar. Examination revealed a firm, cystic mass fixed to underlying skin. It was pedunculated with occasional superficial telangiectasia and a violaceous hue. A differential diagnosis of dermoid or sebaceous cyst, dermatofibroma, and neurofibroma was considered. Histopathological examination confirmed the rare diagnosis of chondroid syringoma (CS), which has a reported incidence of 0.01- 0.098% of excised skin tumors...
November 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328340/selumetinib-in-plexiform-neurofibromas
#4
LETTER
(no author information available yet)
No abstract text is available yet for this article.
March 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#5
Igor Vázquez-Osorio, Anna Duat-Rodríguez, Francisco Javier García-Martínez, Antonio Torrelo, Lucero Noguera-Morel, Angela Hernández-Martín
BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28315612/ultrasound-assessment-of-peripheral-nerve-pathology-in-neurofibromatosis-type-1-and-2
#6
Natalie Winter, Tim W Rattay, Hubertus Axer, Eva Schäffer, Bernhard F Décard, Isabel Gugel, Martin Schuhmann, Alexander Grimm
OBJECTIVE: The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2. METHODS: Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits...
February 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28290428/multiple-mirror-image-cervical-neurofibromas-in-neurofibromatosis-type-1
#7
Saraj K Singh, Dipankar S Mankotia, Sachin A Borkar, Uditi D Gupta
No abstract text is available yet for this article.
March 2017: Neurology India
https://www.readbyqxmd.com/read/28284573/removal-of-solitary-neurofibroma-of-the-external-nose-by-intranasal-approach
#8
H J Min, K S Kim
INTRODUCTION: Solitary neurofibroma originating from the external nose is extremely rare, and to our knowledge, only 3 cases have been reported so far in English literatures. It may originate from the ophthalmic (V1) and maxillary (V2) branches of the trigeminal nerve. CASE REPORT: We present a rare case of solitary neurofibroma arising from the external nose, which was successfully removed by intranasal approach with intercartilaginous incision. CONCLUSION: This case emphasizes two important points...
March 8, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28265213/revascularization-in-a-17-year-old-girl-with-neurofibromatosis-and-severe-hypertension-caused-by-renal-artery-stenosis
#9
Carmen C Beladan, Oliviana D Geavlete, Simona Botezatu, Marin Postu, Bogdan A Popescu, Carmen Ginghina, Ioan M Coman
Renal artery stenosis caused by neurofibromatosis is a rare cause of renovascular hypertension. This hypertension can develop during childhood and is one of the leading causes of poor outcome. We report the case of a 17-year-old girl who was incidentally diagnosed with severe hypertension. During her examination for secondary hypertension, we reached a diagnosis of neurofibromatosis type 1 on the basis of a cluster of typical findings: optic nerve glioma, café au lait spots, nodular neurofibromas, and axillary freckling...
February 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28264248/one-stage-posterior-minimal-laminectomy-and-video-assisted-thoracoscopic-surgery-vats-for-removal-of-thoracic-dumbbell-tumor
#10
Kyoung Hyup Nam, Hyo Yeoung Ahn, Jeong Su Cho, Yeoung Dae Kim, Byung Kwan Choi, In Ho Han
OBJECTIVE: This study was conducted to assess the surgical results of one-stage posterior minimal laminectomy and video-assisted thoracoscopic surgery (VATS) for the treatment of thoracic dumbbell tumor and to describe its precise technique. In addition, we investigated the technique's usefulness and limitations. METHODS: Seven cases of thoracic dumbbell tumor (two men and five women, mean age, 43 years) were analyzed retrospectively. Pathological findings included schwannoma in four patients, neurofibroma in two patients, and hemangioma in one patient...
March 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28256556/an-inflammatory-gene-signature-distinguishes-neurofibroma-schwann-cells-and-macrophages-from-cells-in-the-normal-peripheral-nervous-system
#11
Kwangmin Choi, Kakajan Komurov, Jonathan S Fletcher, Edwin Jousma, Jose A Cancelas, Jianqiang Wu, Nancy Ratner
Neurofibromas are benign peripheral nerve tumors driven by NF1 loss in Schwann cells (SCs). Macrophages are abundant in neurofibromas, and macrophage targeted interventions may have therapeutic potential in these tumors. We generated gene expression data from fluorescence-activated cell sorted (FACS) SCs and macrophages from wild-type and mutant nerve and neurofibroma to identify candidate pathways involved in SC-macrophage cross-talk. While in 1-month-old Nf1 mutant nerve neither SCs nor macrophages significantly differed from their normal counterparts, both macrophages and SCs showed significantly altered cytokine gene expression in neurofibromas...
March 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28247230/update-from-the-4th-edition-of-the-world-health-organization-of-head-and-neck-tumours-tumours-of-the-oral-cavity-and-mobile-tongue
#12
Susan Müller
There have been several additions and deletions in Chapter 4 on Tumours of the oral cavity and mobile tongue in the 2017 fourth edition of the World Health Organization Classification of Tumours of the Head and Neck. This chapter excludes the oropharynx, which now is a stand-alone chapter acknowledging the uniqueness of the oropharynx from the oral cavity. New entries in Chapter 4 include rhabdomyoma, haemangioma, schwannoma, neurofibroma and myofibroblastic sarcoma in the section titled Soft tissue and neural tumours...
March 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28239543/endobronchial-neurogenic-tumor-a-combination-of-traumatic-neuroma-and-neurofibroma
#13
Amit Tandon
Traumatic neuromas are uncommon and benign lesions arising from a peripheral nerve injury during surgery. Here we describe a case with histopathologic features of both a traumatic neuroma and neurofibroma in a patient without integumentary physical exam findings nor prior surgical history. A 54 year old male was admitted for surgical debridement of a foot ulcer. During pre-operative evaluation and review of imaging multiple CT scans revealed a stable, 4 mm endobronchial lesion in the left lower lobe. Given history of nicotine abuse, bronchoscopy was performed...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28235631/clinicopathologic-features-of-peripheral-nerve-sheath-tumors-involving-the-eye-and-ocular-adnexa
#14
Mingjuan L Zhang, Maria J Suarez, Thomas M Bosley, Fausto J Rodriguez
Peripheral nerve sheath tumors (PNSTs) are known to occur in the orbit and comprise 4% of all orbital tumors, but have not been well-studied in contemporary literature. Ninety specimens involving the eye and ocular adnexa (1979-2015) from 67 patients were studied. The mean age was 32.5years. Locations included orbit (58.9%), eyelid (60.0%) and other ocular adnexa. A large majority of specimens were neurofibromas (70.0%), followed by schwannomas (11.1%), neuromas (11.1%), granular cell tumors (n=4), nerve sheath myxomas (n=2), and malignant peripheral nerve sheath tumor (n=1)...
February 21, 2017: Human Pathology
https://www.readbyqxmd.com/read/28230061/neurofibromatosis-type-1
#15
REVIEW
David H Gutmann, Rosalie E Ferner, Robert H Listernick, Bruce R Korf, Pamela L Wolters, Kimberly J Johnson
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life...
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28219304/solitary-thoracic-intramedullary-spinal-neurofibroma-microsurgically-extirpated-via-recapping-t-saw-laminoplasty
#16
Mamer Soriano Rosario, Hideki Murakami, Satoshi Kato, Moriyuki Fujii, Noritaka Yonezawa, Hiroyuki Tsuchiya
We report the case of a 40-year-old female presenting with back pain that was complicated by a solitary intramedullary spinal cord mass at the T10-11 levels, confirmed by magnetic resonance imaging and computed tomography myelography. Microsurgical en bloc extirpation of the tumor approached through a recapping T-saw laminoplasty of T10 was done, and histopathology findings revealed a diagnosis of neurofibroma. Solitary spinal neurofibroma is one of the rarest tumors involving the spinal cord and is very adherent for the lack of a well-defined capsule, requiring careful dissection under microscope magnification for successful en bloc resection...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28217149/congenital-extra-calvarial-plexiform-neurofibroma-in-occipito-cervical-region-with-occipital-bone-defect-with-neurofibromatosis-type-1-and-segmental-neurofibromatosis-case-report-and-review-of-literature
#17
REVIEW
Vivek Kumar Kankane, Gaurav Jaiswal, Tarun Kumar Gupta
Plexiform neurofibroma (PNF) of the scalp is an extremely rare lesion reported in association with neurofibromatosis (NF). Occipital location of PNF is even more infrequent; we reported one pediatric case of PNF in occipito-cervical region with multiple small occipital bone defects and associated with NF-1.
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#18
REVIEW
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28207875/correction-whole-exome-sequencing-of-growing-and-non-growing-cutaneous-neurofibromas-from-a-single-patient-with-neurofibromatosis-type-1
#19
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot
[This corrects the article DOI: 10.1371/journal.pone.0170348.].
2017: PloS One
https://www.readbyqxmd.com/read/28203199/plexiform-neurofibroma-involving-the-lacrimal-gland
#20
Mikael Hofsli, Nico Gampenrieder, Steffen Heegaard
BACKGROUND: To present a rare case of a 2-year-old girl with neurofibromatosis type 1 (NF1) who presented with ptosis of the right upper eyelid along with a tumor in the eyelid. METHODS: A magnetic resonance imaging scan of the orbit revealed a solid tumor located extraconally at the site of the right lacrimal gland. A transcranial orbitotomy was performed. RESULTS: Histopathological examination demonstrated expanded nerve branches/fascicles cut in various planes in between normal lacrimal gland acini...
January 2017: Case Reports in Ophthalmology
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