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Plexiform Neurofibroma

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https://www.readbyqxmd.com/read/28448720/mosaic-neurofibromatosis-type-1-in-children-a-single-institution-experience
#1
Irene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar, Peter Kannu
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012...
April 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28442864/multiple-plexiform-neurofibroma-of-the-hand-misdiagnosed-as-ganglion-cyst
#2
Daniel Dreyfuss, Ido Stahl, Edward Calif
No abstract text is available yet for this article.
April 2017: Journal of Hand and Microsurgery
https://www.readbyqxmd.com/read/28413392/t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-and-aids
#3
Izana Junqueira de Castro, Esther Botelho Soares da Silva, Talita Rezende Dos Santos, Amanda Barroso de Freitas, Inara Junqueira de Castro, Alessandra Santos Portela, Marilza Campos de Magalhães, Karina Lebeis Pires, Guilherme Almeida Rosa da Silva, Marcelo Costa Velho Mendes de Azevedo
Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28405569/plexiform-neurofibroma-overlying-giant-caf%C3%A3-au-lait-macule
#4
Sanjiv V Choudhary, Anuja A Dhope, Ruchi Singh, Pravin Tidke
No abstract text is available yet for this article.
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28405554/arteriovenous-malformation-underlying-a-plexiform-neurofibroma-an-unusual-presentation
#5
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/28401031/sella-turcica-measurements-on-lateral-cephalograms-of-patients-with-neurofibromatosis-type-1
#6
Reinhard E Friedrich, Johanna Baumann, Anna Suling, Hannah T Scheuer, Hanna A Scheuer
The aim of this study was to measure line segments and areas of sella turcica on lateral cephalograms with respect to the clinical diagnosis of facial phenotype of patients with neurofibromatosis type 1 (NF1). Special attention was given to correlate the measured values with certain tumour types that are typical for this disease. Material and methods: Lateral cephalograms of 194 individuals were investigated. Patients with NF1 were further divided according to the detection and topography of facial plexiform neurofibromas (PNF) taking into account the distribution pattern of the trigeminal nerve...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/28384930/intrascrotal-muscular-myxoma-a-case-report
#7
Prasanna Kumar Debata, Vivek G Nath, Ramakant Mohanty, Jitendra Kumar Barad, Debasis Debata
Myxomas are gelatinous tumours that commonly appear as circumscribed masses situated within muscles. It can occur at various sites. However, mostly found in cardiac muscles and skeletal muscles of extremities. Published cases of intrascrotal myxoma are rare in literature. A 28-year-old male was admitted to our General Surgery Department with a history of a gradually enlarging mass in the scrotum and scrotal discomfort since two years. After cytological and imaging investigations, a scrotal exploration was performed with plexiform neurofibroma as the preoperative diagnosis...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28374718/-pelvic-plexiform-neurofibroma-in-recklinghausen-disease
#8
A G Kriger, S V Berelavichus, I S Polyakov, A B Varava, A I Son, B G Akhmedov, Yu S Gal'china
No abstract text is available yet for this article.
2017: Khirurgiia
https://www.readbyqxmd.com/read/28365079/a-lateral-cephalometry-study-of-patients-with-neurofibromatosis-type-1
#9
Reinhard E Friedrich, Jan-Marten Lehmann, Jonathan Rother, Georg Christ, Christine Zu Eulenburg, Hannah T Scheuer, Hanna A Scheuer
PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant transmitted tumour suppressor syndrome and also a bone disease. Osseous dysplasia affecting the craniofacial region is characteristic of NF1. The aim of this study was to analyse the lateral cephalograms of NF1 patients in comparison to individuals who were not affected by this condition in order to describe the skeletal phenotype of NF1 in more detail. MATERIALS AND METHODS: The study comprises the lateral cephalograms of 172 patients with established NF1 diagnoses (female = 85, male = 87)...
February 20, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28341644/nerve-ultrasound-a-useful-screening-tool-for-peripheral-nerve-sheath-tumors-in-nf1
#10
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/28328340/selumetinib-in-plexiform-neurofibromas
#11
LETTER
Andrea Gross, Rachel Bishop, Brigitte C Widemann
No abstract text is available yet for this article.
March 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28315612/ultrasound-assessment-of-peripheral-nerve-pathology-in-neurofibromatosis-type-1-and-2
#12
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...
May 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28235631/clinicopathologic-features-of-peripheral-nerve-sheath-tumors-involving-the-eye-and-ocular-adnexa
#13
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
#14
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/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
#15
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
#16
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/28203199/plexiform-neurofibroma-involving-the-lacrimal-gland
#17
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
https://www.readbyqxmd.com/read/28166752/a-rare-case-of-bilateral-cervical-vagal-neurofibromas-role-of-high-resolution-ultrasound
#18
Bin Liu, Yuanding Zhang, Lili Zhang, Fan Zhang, Hongyu Li, Shuang Li, Yafang Liu, Jie Du, Lirong Zhao
BACKGROUND: Neurofibromas originating from vagus nerves are rarely reported in the literature. In particular, plexiform neurofibromas of the bilateral cervical vagus nerve are extremely rare. CASE PRESENTATION: A 21-year-old female presented with a 2-year history of swelling on the right side of her neck. Physical examination revealed a soft-tissue mass on the right side of her neck. Ultrasonography (US) and magnetic resonance (MR) imaging showed a tumor centered in the right carotid sheath between the internal jugular vein and the common carotid artery...
February 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28124441/confirmation-of-mutation-landscape-of-nf1-associated-malignant-peripheral-nerve-sheath-tumors
#19
Pierre Sohier, Armelle Luscan, Angharad Lloyd, Kevin Ashelford, Ingrid Laurendeau, Audrey Briand-Suleau, Dominique Vidaud, Nicolas Ortonne, Eric Pasmant, Meena Upadhyaya
The commonest tumors associated with neurofibromatosis type 1 (NF1) are benign peripheral nerve sheath tumors, called neurofibromas. Malignant transformation of neurofibromas into aggressive MPNSTs may occur with a poor patient prognosis. A cooperative role of SUZ12 or EED inactivation, along with NF1, TP53, and CDKN2A loss-of-function, has been proposed to drive progression to MPNSTs. An exome sequencing analysis of eight MPNSTs, one plexiform neurofibroma, and seven cutaneous neurofibromas was undertaken...
May 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28089105/selumetinib-for-children-with-plexiform-neurofibromas
#20
Talha Khan Burki
No abstract text is available yet for this article.
January 6, 2017: Lancet Oncology
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