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Neurofibromatosis 1

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https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#1
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...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28210535/magnetic-resonance-imaging-in-a-neurofibromatosis-type-2-patient-with-a-novel-mri-compatible-auditory-brainstem-implant
#2
REVIEW
Matthew Shew, Judson Bertsch, Paul Camarata, Hinrich Staecker
Auditory brainstem implantation has become a key technique for the rehabilitation of hearing in patients with neurofibromatosis type 2. The nature of this devastating genetic disease requires ongoing MRI for the patient's lifespan. Today, most auditory brainstem implants require removal of the magnet that connects the internal device to the external speech processor to undergo imaging as their disease progresses. Patients have the option of having a short procedure to have the magnet taken out and replaced each time, or alternately using a headband to secure the processor over the receiver coil of the internal device...
January 2017: Journal of Neurological Surgery Reports
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
#3
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
#4
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/28202035/non-optic-glioma-in-adults-and-children-with-neurofibromatosis-1
#5
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K S Heran, Patricia Birch, Ralph Wenzel, Jan M Friedman, Victor-Felix Mautner
BACKGROUND: Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas in adults and compare these findings to the results found in children. RESULTS: One thousand seven hundred twenty-two brain MRI scans of 562 unselected individuals with NF1 were collected at the NF outpatient department of the University Hospital Hamburg-Eppendorf between 2003 and 2015...
February 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28198162/the-health-related-quality-of-life-of-children-adolescents-and-young-adults-with-neurofibromatosis-type-1-and-their-families-analysis-of-narratives
#6
Claire Burke Draucker, Kavitha Nutakki, James W Varni, Nancy L Swigonski
PURPOSE: Provide an in-depth description of the health-related quality of life (HRQoL) in youth diagnosed with neurofibromatosis type 1 (NF1) and their families. DESIGN AND METHODS: Data were drawn from qualitative interviews conducted for a larger study aimed at developing the Pediatric Quality of Life Inventory™ (PedsQL™) NF1 module. RESULTS: Youth with NF1 and their families experience a wide range of concerns related to HRQoL due to the varied symptom expression and uncertain trajectory of the disorder...
February 15, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28196317/common-skin-conditions-in-children-noninfectious-rashes
#7
Brian Z Rayala, Dean S Morrell
Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Emollients and topical corticosteroids are first-line therapies. Topical calcineurin inhibitors are second-line, steroid-sparing drugs for certain conditions, such as face and eyelid eczema...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28193237/evaluation-of-quality-of-life-in-adults-with-neurofibromatosis-1-nf1-using-the-impact-of-nf1-on-quality-of-life-inf1-qol-questionnaire
#8
Rosalie E Ferner, Mary Thomas, Gemma Mercer, Victoria Williams, Guy D Leschziner, Shazia K Afridi, John F Golding
BACKGROUND: Neurofibromatosis 1 (NF1) is an inherited, multi-system, tumour suppressor disorder with variable complications that cause psychological distress and social isolation. The study aim was to develop and validate a disease-specific questionnaire to measure quality of life (QOL) in NF1 that is suitable both as an assessment tool in clinical practice and in clinical trials of novel therapy. METHODS: The Impact of NF1 on Quality of Life (INF1-QOL) questionnaire was developed by a literature search for common terms, focus group (n = 6), semi-structured interviews (n = 21), initial drafts (n =50) and final 14 item questionnaire (n = 50)...
February 14, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28193119/the-key-search-subtest-of-the-behavioural-assessment-of-the-dysexecutive-syndrome-in-children-bads-c-instrument-reveals-impaired-planning-without-external-constraints-in-children-with-neurofibromatosis-type-1
#9
Daria Riva, Chiara Vago, Alessandra Erbetta, Veronica Saletti, Silvia Esposito, Roberto Micheli, Sara Bulgheroni
Studies of executive function and its relationship with brain T2-weighted hyperintensities in children with neurofibromatosis type 1 (NF1) have yielded inconsistent results. We examined 16 children with NF1 aged 8 to 15 years, of normal intelligence, and compared their findings to those of 16 siblings and 16 typically developing children using the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C). NF1 patients had an adequate overall score at BADS-C, but showed significantly lower performance than typical peers in the Key Search subtest...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28168068/treatment-challenges-of-a-primary-vertebral-artery-aneurysm-causing-recurrent-ischemic-strokes
#10
Davide Strambo, Luca Peruzzotti-Jametti, Aurora Semerano, Giovanna Fanelli, Franco Simionato, Roberto Chiesa, Enrico Rinaldi, Vittorio Martinelli, Giancarlo Comi, Marco Bacigaluppi, Maria Sessa
Background. Extracranial vertebral artery aneurysms are a rare cause of embolic stroke; surgical and endovascular therapy options are debated and long-term complication may occur. Case Report. A 53-year-old man affected by neurofibromatosis type 1 (NF1) came to our attention for recurrent vertebrobasilar embolic strokes, caused by a primary giant, partially thrombosed, fusiform aneurysm of the left extracranial vertebral artery. The aneurysm was treated by endovascular approach through deposition of Guglielmi Detachable Coils in the proximal segment of the left vertebral artery...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28166752/a-rare-case-of-bilateral-cervical-vagal-neurofibromas-role-of-high-resolution-ultrasound
#11
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/28164079/short-stature-and-growth-hormone-deficiency-in-a-girl-with-encephalocraniocutaneous-lipomatosis-and-jaffe-campanacci-syndrome-a-case-report
#12
Eun Mi Choi, Nani Jung, Ye Jee Shim, Hee Joung Choi, Joon Sik Kim, Heung Sik Kim, Kwang Soon Song, Hee Jung Lee, Sang Pyo Kim
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28163183/a-femoral-common-vein-aneurysm-in-a-patient-with-neurofibromatosis-syndrome-type-1
#13
C Seinturier, S Blaise, F Thony, J L Magne, G Pernod
Neurofibromatosis type I (NFI), also called Von Recklinghausen disease, is an autosomal dominant disease secondary to a genetic mutation on the long arm of chromosome 17. This disorder affects neural crest cells. Cutaneous clinical forms are the most frequent with multiple benign skin neurofibromas, associated with café au lait skin spots and iris hamartomas. Vascular abnormalities in NF1 are rare but have also been well described. The most frequent abnormalities are characterized by arterial aneurysm degeneration, stenosis, and malformations...
February 2, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28153635/mid-aortic-syndrome-in-a-patient-with-neurofibromatosis-type-1
#14
Sara P Magalhães, Nuno Moreno, Nuno Alves, Fernanda Reis
No abstract text is available yet for this article.
February 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28150585/the-first-slovak-legius-syndrome-patient-carrying-the-spred1-gene-mutation
#15
Martina Sekelska, Lenka Briatkova, Tomas Olcak, Anna Bolcekova, Denisa Ilencikova, Ludevit Kadasi, Andrea Zatkova
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c...
February 2, 2017: General Physiology and Biophysics
https://www.readbyqxmd.com/read/28138125/face-transplant-in-an-advanced-neurofibromatosis-type-1-patient
#16
Łukasz Krakowczyk, Adam Maciejewski, Cezary Szymczyk, Krzysztof Oleś, Stanisław Półtorak
BACKGROUND The human face is a one-of-a-kind structure with unique morphology, complexity, and function, in which different subunits are not even similar to other parts of the body. Therefore, extended complex deficits of the face are usually difficult to reconstruct, and autologous tissue restoration is generally not able to give a satisfactory aesthetic and functional outcome. The main goal of face allotransplantation is to restore symmetry, contour, and appearance as well as function of the face, especially control of orbicularis oculi and oris muscle physiology...
January 31, 2017: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/28135565/dissecting-clinical-heterogeneity-in-neurofibromatosis-type-1
#17
Courtney L Monroe, Sonika Dahiya, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neurofibromas, and malignant peripheral nerve sheath tumors, as well as behavioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities. Although NF1 is a classic monogenic syndrome, the clinical features of the disorder and their impact on patient morbidity are variable, even within individuals who bear the same germline NF1 gene mutation...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28134730/primary-cutaneous-follicular-helper-t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-case-report-and-review-of-the-literature
#18
REVIEW
Anastasia Shamsuyarova, Zaid Kamil, Jan Delabie, Nadya Al-Faraidy, Danny Ghazarian
Patients with neurofibromatosis type 1 (NF-1) have a well-known predisposition for certain types of malignancies, including lymphoproliferative disorders. Cutaneous T-cell lymphoma (CTCL) has been reported in patients with NF-1, although it is considered a rare entity in this subset of patients. Cutaneous follicular helper T-cell lymphoma (CTFHCL) is a recently emerged rare subtype of CTCL with peculiar clinical and histopathological features and represents a diagnostic and therapeutic challenge. Only a few cases of CTFHCL have been reported in the literature...
February 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28133099/-surgery-for-multiple-gastrointestinal-stromal-tumors-of-the-small-intestine-in-patients-with-neurofibromatosis-type-1-a-report-of-three-cases
#19
Reiko Ohtake, Tsuyoshi Yamaguchi, Satoshi Murata, Sachiko Kaida, Hiroshi Yamamoto, Katsushi Takebayashi, Hiroya Akabori, Hiromichi Sonoda, Tsuyoshi Mori, Tomoharu Shimizu, Shigeyuki Naka, Shigeki Banba, Tomoyuki Tsujikawa, Akira Ando, Masaji Tani
We report 3 cases of multiple GIST of the small intestine in 3 patients with NF1 who have been followed for over 5 years. All patients presented with melena, and tumors of the small intestine suspected to be GIST were found on endoscopy. We performed partial resections of the small intestine for all 3 patients. After surgery, 1 patient had residual tumors that gradually enlarged during 8 year 2 months and another had residual tumors that have been stable for 8 years. In the third patient, we resected all the tumors, and there has been no sign of recurrence in 6 year 1 month...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28128697/gamma-knife-radiosurgery-for-treatment-of-growing-vestibular-schwannomas-in-patients-with-neurofibromatosis-type-2-a-matched-cohort-study-with-sporadic-vestibular-schwannomas
#20
Ivo J Kruyt, Jeroen B Verheul, Patrick E J Hanssens, Henricus P M Kunst
OBJECTIVE Neurofibromatosis Type 2 (NF2) is a tumor syndrome characterized by an autosomal dominant pattern of inheritance. The hallmark of NF2 is the development of bilateral vestibular schwannomas (VSs), generally by 30 years of age. One of the first-line treatment options for small to medium-large VSs is radiosurgery. Although radiosurgery shows excellent results in sporadic VS, its use in NF2-related VS is still a topic of dispute. The aim of this study was to evaluate long-term tumor control, hearing preservation rates, and factors influencing outcome of optimally dosed, contemporary Gamma Knife radiosurgery (GKRS) for growing VSs in patients with NF2 and compare the findings to data obtained in patients with sporadic VS also treated by means of GKRS...
January 27, 2017: Journal of Neurosurgery
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