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    10847 results match your criteria Neurofibromatosis Type 1

    1 OF 217

    Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Glioma
    Horm Res Paediatr 2017 Mar 27:178-188. Epub 2017 Mar 27.
    Background/aims: Children with optic pathway glioma (OPG) face sequelae related to tumour location and treatment modalities. We aimed to assess the prevalence of hypothalamic-pituitary dysfunctions in children with neurofibromatosis type 1 (NF1) and OPG who did not receive radiotherapy or surgical resection. The causative role of tumour location on endocrinopathy development is investigated. Read More

    At first sight or second glance: Clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series.
    J Eur Acad Dermatol Venereol 2017 Mar 25. Epub 2017 Mar 25.
    Department of Dermatology, Venerology, and Allergology; University Medical Center, Ruprecht-Karls-University Heidelberg, Germany.
    Background: Several autosomal dominant disorders may manifest in mosaic patterns with cutaneous involvement. Genomic mosaicism results from postzygotic autosomal mutations, giving rise to clonal proliferation of two genetically distinct cell groups, which clinically present as lesions following the lines of Blaschko.

    Objective: To increase the awareness of the clinical variability of mosaic manifestations in autosomal dominant skin disorders in order to avoid delayed diagnosis. Read More

    Nerve ultrasound: A useful screening tool for peripheral nerve sheath tumors in NF1?
    Neurology 2017 Mar 24. Epub 2017 Mar 24.
    From the Elisabeth-Tweesteden Hospital, Department of Neurology, Tilburg, the Netherlands.
    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). Read More

    Altered cerebrospinal fluid dynamics in neurofibromatosis type l: severe arachnoid thickening in patients with neurofibromatosis type 1 may cause abnormal CSF dynamic.
    Childs Nerv Syst 2017 Mar 22. Epub 2017 Mar 22.
    Craniofacial Reformation Clinic, Department of Neurosurgery, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, South Korea.
    Introduction: The object of this study is to understand abnormal dynamic of cerebrospinal fluid (CSF) in patients with neurofibromatosis type 1 (NF1), which may cause temporal lobe herniation and bulging of temporal fossa.

    Methods: Four patients, three females and one male, with NF1 were studied retrospectively. They presented with a similar craniofacial deformity, which consisted of pulsatile exophthalmos, an enlarged bony orbit, dysplasia of the sphenoid wing with the presence of a herniation of the temporal lobe into the orbit, and a bulging temporal fossa. Read More

    A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1.
    Neurology 2017 Mar 22. Epub 2017 Mar 22.
    From the Departments of Neurology (J.M., S.M.M., D.H.G.) and Radiology (R.C.M.), Washington University School of Medicine, St. Louis, MO; Division of Oncology (A.C.S., M.J.F.), Children's Hospital of Philadelphia, PA; Center for Neuroscience of Behavioral Medicine (A.S., R.J.P.), Children's National Medical Center, Washington, DC; Division of Academic General Pediatrics (R.L.), Feinberg School of Medicine, Northwestern University, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; and Department of Pediatrics (M.J.F.), The Perelman School of Medicine at The University of Pennsylvania, Philadelphia.
    Objective: To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1).

    Methods: We performed a retrospective cross-sectional study of 133 children with NF1 and concurrent BSGs cared for at 4 NF1 referral centers. BSG was determined using radiographic criteria. Read More

    Genitourinary paraganglioma: Demographic, pathologic, and clinical characteristics in the surveillance, epidemiology, and end results database (2000-2012).
    Urol Oncol 2017 Mar 18. Epub 2017 Mar 18.
    Urologic Oncology Branch, National Cancer Institute, Bethesda, MD. Electronic address:
    Background: Extra-adrenal paragangliomas (PGLs) are infrequent, benign, and neuroendocrine tumors arising from chromaffin cells of the autonomic nervous system. Most PGLs are sporadic, but up to 32% are associated with inherited syndromes such as neurofibromatosis type 1, von Hippel-Lindau disease, and familial PGL. Although most PGLs develop above the umbilicus, they have been reported in the genitourinary (GU) tract. Read More

    Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.
    J Am Acad Dermatol 2017 Mar 15. Epub 2017 Mar 15.
    Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, Alabama.
    Background: Although isolated cafe-au-lait macules (CALMs) are a common skin finding, they are an early feature of neurofibromatosis type 1 (NF1).

    Objective: We sought to develop an algorithm determining the risk of children with CALMs to have constitutional NF1.

    Methods: We conducted a retrospective study of patients with isolated CALMs. Read More

    Facial Emotion Recognition, Face Scan Paths, and Face Perception in Children With Neurofibromatosis Type 1.
    Neuropsychology 2017 Mar 20. Epub 2017 Mar 20.
    Objective: This study aimed to investigate face scan paths and face perception abilities in children with Neurofibromatosis Type 1 (NF1) and how these might relate to emotion recognition abilities in this population.

    Method: The authors investigated facial emotion recognition, face scan paths, and face perception in 29 children with NF1 compared to 29 chronological age-matched typically developing controls. Correlations between facial emotion recognition, face scan paths, and face perception in children with NF1 were examined. Read More

    Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1.
    Pediatr Dermatol 2017 Mar 20. Epub 2017 Mar 20.
    Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
    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. Read More

    Ultrasound assessment of peripheral nerve pathology in neurofibromatosis type 1 and 2.
    Clin Neurophysiol 2017 Feb 20;128(5):702-706. Epub 2017 Feb 20.
    Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany. Electronic address:
    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. Read More

    Praxis skills and executive function in children with neurofibromatosis type 1.
    Appl Neuropsychol Child 2017 Mar 15:1-11. Epub 2017 Mar 15.
    a Laboratory of Psychology LPPL (EA 4638), UBL , Brittany-Loire University , Angers , France.
    This study aimed at examining motor and ideomotor praxis skills in children with neurofibromatosis type 1 (NF1). The impact of executive dysfunction, frequently described in children with NF1, on the expression of praxis impairments was also studied. Eighteen children with NF1 were included and matched with 20 control children for age (7-14 years), sex, laterality, and parental education level. Read More

    Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls - Two pathways to success.
    Neuroimage Clin 2017 20;14:499-505. Epub 2017 Feb 20.
    Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry, Faculty of Medicine to the TU Dresden, Germany; Experimental Neurobiology, National Institute of Mental Health, Czech Republic, Germany.
    Neurofibromatosis Type 1 (NF1) is a monogenetic autosomal-dominant disorder with a broad spectrum of clinical symptoms and is commonly associated with cognitive deficits. Patients with NF1 frequently exhibit cognitive impairments like attention problems, working memory deficits and dysfunctional inhibitory control. The latter is also relevant for the resolution of cognitive conflicts. Read More

    [Composite pheochromocytoma: A rare adrenal tumor].
    Ann Pathol 2017 Mar 9. Epub 2017 Mar 9.
    Service d'anatomie et cytologie pathologiques, CHU Pontchaillou, 2, rue Henri-le-Guilloux, 35033 Rennes cedex 9, France.
    Introduction: Composite pheochromocytoma is a rare tumor of the adrenal medulla composed of pheochromocytoma and neuroblastic tumor. We report the case of a composite pheochromocytoma detected in a patient with neurofibromatosis type 1.

    Case Report: A 61-year-old male patient presented occasional sweats with palpitation and moderate high blood pressure. Read More

    Revascularization in a 17-Year-Old Girl with Neurofibromatosis and Severe Hypertension Caused by Renal Artery Stenosis.
    Tex Heart Inst J 2017 Feb 1;44(1):50-54. Epub 2017 Feb 1.
    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. Read More

    Response inhibition in Attention deficit disorder and neurofibromatosis type 1 - clinically similar, neurophysiologically different.
    Sci Rep 2017 Mar 6;7:43929. Epub 2017 Mar 6.
    Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry, Faculty of Medicine to the TU Dresden, Germany.
    There are large overlaps in cognitive deficits occurring in attention deficit disorder (ADD) and neurodevelopmental disorders like neurofibromatosis type 1 (NF1). This overlap is mostly based on clinical measures and not on in-depth analyses of neuronal mechanisms. However, the consideration of such neuronal underpinnings is crucial when aiming to integrate measures that can lead to a better understanding of the underlying mechanisms. Read More

    Optic pathway glioma of childhood.
    Curr Opin Ophthalmol 2017 Mar 2. Epub 2017 Mar 2.
    Harkness Eye Institute, Columbia University, New York, New York, USA.
    Purpose Of Review: Optic pathway gliomas (OPG) are the most common tumor of the anterior visual pathway and can involve the optic nerve, chiasm, tract, and optic radiations. They are typically benign lesions, often pilocytic astrocytomas, which are diagnosed in childhood. We review the epidemiology, clinical presentation, diagnosis, and management of these lesions in patients with and without neurofibromatosis type 1 (NF-1). Read More

    [Learning disorders in neurofibromatosis type 1].
    Rev Neurol 2017 Feb;64(s01):S59-S63
    Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
    Introduction: Neurocognitive deficits and academic learning difficulties are the most common neurologic complication of neurofibromatosis type 1 (NF1) in childhood and can be responsible for significant lifetime morbidity. Children with NF1 show impairments in attention, visual perception, language, executive function, academic skills, and behavior. Studies in animal models suggest that the learning disabilities associated with NF1 are caused by excessive Ras activity that leads to increased gamma-aminobutyric acid (GABA) inhibition and to decreased long-term potentiation. Read More

    Pharmacologically targeting beta-catenin for NF1 associated deficiencies in fracture repair.
    Bone 2017 Feb 22;98:31-36. Epub 2017 Feb 22.
    Department of Orthopaedic Surgery, Duke University, Durham, USA. Electronic address:
    Patients with Neurofibromatosis type 1 display delayed fracture healing and the increased deposition of fibrous tissue at the fracture site. Severe cases can lead to non-union and even congenital pseudarthrosis. Neurofibromatosis type 1 is caused by a mutation in the NF1 gene and mice lacking the Nf1 gene show a fracture repair phenotype similar to that seen in patients. Read More

    A Giant Lumbar Pseudomeningocele in a Patient with Neurofibromatosis Type 1: A Case Report.
    Case Rep Med 2017 31;2017:4681526. Epub 2017 Jan 31.
    Department of Neurosurgery, Università Politecnica delle Marche, Ospedali Riuniti Umberto I, Ancona, Italy.
    This is a rare case of giant lumbar pseudomeningocele with intra-abdominal extension in patient with neurofibromatosis type 1 (NF1). The patient's clinical course is retrospectively reviewed. A 34-year-old female affected by NF1 was referred to our institution for persistent low back pain and MRI diagnosis of pseudomeningocele located at L3 level with paravertebral extension. Read More

    Retina 2017 Feb 28. Epub 2017 Feb 28.
    *Department of Ophthalmology, University of Padova, Padova, Italy; †Clinical Genetics Unit, Department of Women and Children Health, University of Padova, Padova, Italy; ‡Ocular Oncology and Toxicology Research Unit, G.B. Bietti Foundation, IRCCS, Roma, Italy.
    Purpose: To evaluate the prevalence, the vascular features, and the clinical diagnostic implication of retinal vascular abnormalities (RVAs) associated with neurofibromatosis Type 1 (NF1) in a large cohort of patients.

    Methods: Two hundred and ninety-four patients affected by NF1 were consecutively enrolled. The presence of RVAs was detected by means of infrared confocal scanning laser ophthalmoscopy images. Read More

    [Clinical application of three-dimensional O-arm navigation system in treating patients with dystrophic scoliosis secondary to neurofibromatosis type Ⅰ].
    Zhonghua Wai Ke Za Zhi 2017 Mar;55(3):186-191
    Department of Orthopaedics, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.
    Objective: To investigate the clinical outcomes and the accuracy of O-arm-navigation system assisted pedicle screw insertion in dystrophic scoliosis secondary to neurofibromatosis type Ⅰ(NF-1). Methods: A retrospective study was conducted in 41 patients with dystrophic NF-1-associated thoracic scoliosis who were surgically treated at Department of Orthopaedics, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School between June 2012 and October 2014 with more than 18 months follow-up. The patients were then divided into two groups: 18 patients were under the assistance of O-arm-navigation-based pedicle screw insertion (O-arm group) and the remaining 23 patients' pedicle screws insertion were conducted by free-hand (free-hand group). Read More

    Clinicopathologic Features of Peripheral Nerve Sheath Tumors Involving the Eye and Ocular Adnexa.
    Hum Pathol 2017 Feb 21. Epub 2017 Feb 21.
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD; Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:
    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. Read More

    Growing Rods Are an Effective Fusionless Method of Controlling Early-Onset Scoliosis Associated With Neurofibromatosis Type 1 (NF1): A Multicenter Retrospective Case Series.
    J Pediatr Orthop 2017 Feb 23. Epub 2017 Feb 23.
    *Cincinnati Children's Hospital Medical Center †University of Cincinnati Medical Center, Cincinnati, OH ‡Boston Children's Hospital, Boston, MA §Johns Hopkins Children's Center, Baltimore, MD.
    Background: Spinal deformities associated with neurofibromatosis type 1 (NF1) often have an early onset. These curves frequently develop dysplastic features. Rapid progression is common, and is often difficult to control with casting or bracing. Read More

    Neurofibromatosis type 1.
    Nat Rev Dis Primers 2017 Feb 23;3:17004. Epub 2017 Feb 23.
    Master of Public Health Program, Brown School, St. Louis, Missouri, USA.
    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. Read More

    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.
    J Pediatr Neurosci 2016 Oct-Dec;11(4):295-297
    Department of Neurosurgery, R.N.T. Medical College, M.B. Hospital, Udaipur, Rajasthan, India.
    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. Read More

    Emerging genotype-phenotype relationships in patients with large NF1 deletions.
    Hum Genet 2017 Apr 17;136(4):349-376. Epub 2017 Feb 17.
    Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK.
    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. Read More

    Plexiform Neurofibroma Involving the Lacrimal Gland.
    Case Rep Ophthalmol 2017 Jan-Apr;8(1):67-72. Epub 2017 Jan 31.
    Department of Ophthalmology and Department of Pathology, Eye Pathology Section, Righospitalet-Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark.
    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. Read More

    Non-optic glioma in adults and children with neurofibromatosis 1.
    Orphanet J Rare Dis 2017 Feb 15;12(1):34. Epub 2017 Feb 15.
    Department of Neurology, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
    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. Read More

    The health-related quality of life of children, adolescents, and young adults with neurofibromatosis type 1 and their families: Analysis of narratives.
    J Spec Pediatr Nurs 2017 Feb 15. Epub 2017 Feb 15.
    Professor, Department of Pediatrics; Professor, Fairbanks School of Public Health; Affiliate Scientist, Regenstrief Institute, Inc.; Children's Health Services Research, Indiana University School of Medicine, Indianapolis, Indiana, USA.
    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. Read More

    Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire.
    Health Qual Life Outcomes 2017 Feb 14;15(1):34. Epub 2017 Feb 14.
    Department of Psychology, University of Westminster, London, UK.
    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). Read More

    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.
    J Child Neurol 2017 Mar 20;32(4):387-396. Epub 2016 Dec 20.
    1 Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
    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. Read More

    The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study.
    J Am Acad Dermatol 2017 Feb 8. Epub 2017 Feb 8.
    Section of Pediatric Dermatology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:
    Background: Neurofibromatosis type 1 (NF-1) predisposes individuals to the development of benign and malignant tumors. The association of NF-1, juvenile xanthogranuloma (JXG), and juvenile myelomonocytic leukemia has been described in the literature. It is unclear whether JXG alone constitute a risk factor for leukemia or other malignancies in children with NF-1. Read More

    Treatment Challenges of a Primary Vertebral Artery Aneurysm Causing Recurrent Ischemic Strokes.
    Case Rep Neurol Med 2017 10;2017:2571630. Epub 2017 Jan 10.
    Stroke Unit, Department of Neurology and Neurophysiology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.
    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. Read More

    A rare case of bilateral cervical vagal neurofibromas: role of high-resolution ultrasound.
    BMC Neurol 2017 Feb 6;17(1):26. Epub 2017 Feb 6.
    Department of Electrical Diagnosis, the First Bethune Hospital of Jilin University, No. 3302, Jilin Road, Changchun, 130021, China.
    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. Read More

    Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report.
    Ann Pediatr Endocrinol Metab 2016 Dec 31;21(4):240-244. Epub 2016 Dec 31.
    Department of Pathology, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
    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. Read More

    The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
    Gen Physiol Biophys 2017 Feb 2. Epub 2017 Feb 2.
    Department of Molecular Biology, Comenius University, Faculty of Natural Sciences, Mlynska dolina, Ilkovicova 6, 842 15 Bratislava, Slovakia.
    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. Read More

    Face Transplant in an Advanced Neurofibromatosis Type 1 Patient.
    Ann Transplant 2017 Jan 31;22:53-57. Epub 2017 Jan 31.
    Department of Oncological and Reconstructive Surgery, Cancer Center, Institute of Maria Skłodowska-Curie in Gliwice, Gliwice, Poland.
    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. Read More

    Dissecting Clinical Heterogeneity in Neurofibromatosis Type 1.
    Annu Rev Pathol 2017 Jan;12:53-74
    Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110; email:
    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. Read More

    Primary Cutaneous Follicular Helper T-cell Lymphoma in a Patient With Neurofibromatosis Type 1: Case Report and Review of the Literature.
    Am J Dermatopathol 2017 Feb;39(2):134-139
    *Sunnybrook Health Science Centre, Division of Dermatology, University of Toronto, Toronto, Ontario; and †University Health Network, Toronto General Hospital, University of Toronto, Department of Pathology, Toronto, Ontario.
    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. Read More

    [Surgery for Multiple Gastrointestinal Stromal Tumors of the Small Intestine in Patients with Neurofibromatosis Type 1 - A Report of Three Cases].
    Gan To Kagaku Ryoho 2016 Nov;43(12):1687-1689
    Dept. of Surgery, Shiga University of Medical Science.
    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. Read More

    Thoracic compression myelopathy due to the progression of dystrophic scoliosis, the presence of a paraspinal tumor, and high and excessive amplitude movement of the shoulder.
    J Orthop Surg (Hong Kong) 2017 Jan;25(1):2309499016684726
    1 Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.
    The authors present a case of 45-year-old man with neurofibromatosis type 1 (NF-1) and thoracic scoliosis, previously undergoing fusion surgery, who developed myelopathy. This patient further complained of lightning pain when he extended and horizontally abducted the convex-side shoulder. Radiological examination revealed the progression of dystrophic scoliosis with opened spinal canals and the presence of a neurofibroma behind the spinal cord at the apical levels. Read More

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