Orbitotemporal Neurofibromatosis: Case Report by Mahalakshmi Balasubramanyam, Goutham Cugati, Bipasha Mukherjee

“…Plexiform neurofibromas occur in about 60% of neurofibromatosis type 1(NF-1) patients and can lead to severe morbidity by disfigurement or compression of vital structures. …”
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Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene by Gustavo Fernandes, Mirela Souto, Frederico Costa, Edite Oliveira, Bernardo Garicochea

“…Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin. …”
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NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas by Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

“…Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. …”
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SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes by Heather Choat, Kerri Derrevere, Lisa Knight, Whitney Brown, Elizabeth H. Mack

“…While some cases are sporadic, they have commonly been associated with syndromes such as von Hippel-Lindau, multiple endocrine neoplasia types IIa and IIb, neurofibromatosis type 1, and hereditary pheochromocytoma-paraganglioma syndromes. …”
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A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1 by Yoko Yamamoto, Ken Kodama, Shigekazu Yokoyama, Masashi Takeda, Shintaro Michishita

“…Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is a multisystemic disease caused by an alteration of the NF1 gene, a tumor suppressor located on the long arm of chromosome 17 (17q11.2). …”
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Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1 by Ana Paula Molina Vivas, Luana Eschholz Bomfin, Clovis Antonio Lopes Pinto, Ulisses Ribaldo Nicolau, Fabio Abreu Alves

“…Neurofibromatosis type 1 (NF1) has been associated with an increased risk for development of malignancy, especially malignant peripheral nerve sheath tumors. …”
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A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature by Natanya M. Mishal, Dimitrios Arkilo, Ju Tang, John R. Crawford, Sonya G. Wang

“…A 15-year-old girl with maternal inheritance of neurofibromatosis type 1 (NF1) and paternal inheritance of tuberous sclerosis complex (TSC) developed intractable epilepsy at age 5. …”
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Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female by Sk. Abdul Mahmud, Neha Shah, Moumita Chattaraj, Swagata Gayen

“…Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. …”
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Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature by Siobhan S. Pattwell, Eric Q. Konnick, Yajuan J. Liu, Rebecca A. Yoda, Laligam N. Sekhar, Patrick J. Cimino

“…Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene responsible for the syndrome neurofibromatosis type 1. Sporadic pilocytic astrocytoma frequently harbors somatic alterations in BRAF, with rare pilocytic astrocytomas containing alterations in FGFR1 and NTRK2. …”
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Diffuse Neurofibroma in a Patient with Unknown History of NF1 by Mahmoud A. K. Ebrahim, Mishal M. AlMutairi, Khaled M. Hindi, Jassem M. Bastaki

“…The disease most often develops in the setting of neurofibromatosis type 1 (NF1) but can also occur sporadically. …”
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Plexiform Neurofibroma of the Wrist: Imaging Features and When to Suspect Malignancy by Maria Gosein, Anthony Ameeral, Renee Banfield, Murrie Mosodeen

“…Plexiform neurofibromas are essentially pathognomonic for neurofibromatosis type 1 (NF1), occurring when there is diffuse involvement along a nerve segment and its branches. …”
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Radiological insights into fibromuscular dysplasia unveiled by intracranial aneurysms and iliac vein hypoplasia in suspected DVT by Abderrahmane Ibenyahia, MD, Oumaima Elkaddouri, MD, Mounir Salek, MD, Salma Boustani, MD, Soufiane Bigi, MD, Said Adnor, MD, Wassila Bouissar, MD, Soukaina Wakrim, MD

“…Differential diagnosis includes atherosclerotic aneurysms, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis type 1, and polyarteritis nodosa, which must be distinguished through comprehensive imaging and clinical evaluation. …”
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Multidisciplinary Management of a Giant Plexiform Neurofibroma by Double Sequential Preoperative Embolization and Surgical Resection by Roberto Vélez, Sergi Barrera-Ochoa, David Barastegui, Mercedes Pérez-Lafuente, Cleofe Romagosa, Manuel Pérez

“…Plexiform neurofibromas are benign tumors originating from subcutaneous or visceral peripheral nerves, which are usually associated with neurofibromatosis type 1. Giant neurofibromas are very difficult to manage surgically as they are extensively infiltrative and highly vascularized. …”
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Schwann cells in regeneration and cancer by Lan Zhang, Jiale Xie, Wenyu Dai, Bing Lu, Sheng Yi

“…Schwann cells are the major cellular component of neurofibromatosis type 1 and the sole cell type in neurofibromatosis type 2 and schwannomatosis. …”
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Molecular mechanisms of autism as a form of synaptic dysfunction by E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko

“…Deregulation of the local translation in dendrites is connected with the following monogenic autism spectrum disorders: neurofibromatosis type 1, Noonan syndrome, Costello syndrome, Cowden syndrome, tuberous sclerosis, fragile X chromosome, syndrome, and Rett syndrome. …”
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神经纤维瘤病 1 型智力损害及其影响因素

“…目的: 研究 1 型神经纤维瘤病( neurofibromatosis type 1, NF1)智力损害的特征及其影响因素。方法: 用中国修订 韦氏成人智力量表测定法。…”
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Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil by Larissa Souza Mario Bueno, Clévia Rosset, Ernestina Aguiar, Fernando de Souza Pereira, Patrícia Izetti Ribeiro, Rosana Scalco, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Guilherme Gischkow Rucatti, José Artur Chies, Suzi Alves Camey, Patricia Ashton-Prolla

“…Neurofibromatosis type 1 (NF1) patients are more likely to have vitamin D deficiency when compared to the general population. …”
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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

“…<b>Background:</b> Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the <i>NF1</i> gene. …”
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