Strangled by His Nerves—Cervical Plexiform Neurofibroma With Infantile Spinal Neurofibromatosis: Case Report in a 14 Years Old Child [PDF]
Clinical Medicine Insights: Case Reports, 2023 Background: Neurofibromatoses are a rare group of autosomal dominant tumor suppressor phacomatoses syndromes. Neurofibromatosis type 1 (NF1 or Von Recklinghausen’s disease) is the most commonly found type of neurofibromatosis, and constitutes the most ...
Ilias Tahiri +8 more
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Neurofibromatosis: analysis of clinical cases and new diagnostic criteria [PDF]
Нервно-мышечные болезни, 2022 Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are ...
E. S. Makashova +6 more
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Neurofibromatosis: New Clinical Challenges in the Era of COVID-19 [PDF]
Biomedicines, 2022 Rare diseases constitute a wide range of disorders thus defined for their low prevalence. However, taken together, rare diseases impact a considerable percentage of the world population, thus representing a public healthcare problem.
Alessio Ardizzone +5 more
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Lymphoproliferative malignancies in patients with neurofibromatosis 1 [PDF]
Orphanet Journal of Rare Diseases, 2021 Neurofibromatosis 1 (NF1) is an inherited, autosomal-dominant, tumor predisposition syndrome with a birth incidence as high as 1:2000. A patient with NF1 is four to five times more likely to develop a malignancy as compared to the general population. The
Christina Bergqvist +4 more
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Radiofrequency Ablation and Excision of Multiple Cutaneous Lesions in Neurofibromatosis Type 1 [PDF]
Archives of Plastic Surgery, 2013 Background Von Recklinghausen disease or neurofibromatosis type 1 is an autosomal dominant genetic disorder of chromosome 17q11.2. The most common characteristic findings of NF 1 include multiple and recurrent cutaneous neurofibromas associated with ...
Seong-Hun Kim +3 more
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Patient-Reported Quality of Life Outcomes in Patients With Neurofibromatoses Undergoing Surgery [PDF]
Plastic and Reconstructive Surgery, Global Open, 2020 Ayana K. Cole-Price, BS +5 more
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Deutsches Ärzteblatt international, 2020 Neurofibromatosis of types 1 and 2 (NF1, NF2) and schwannomatosis are the diseases that make up the neurofibromatosis spectrum. With respective incidences of 1 in 3000, 1 in 33 000, and 1 in 60 000 births, they form part of the group of rare tumor-suppressor syndromes.
Said, Farschtschi +5 more
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Lung parenchima changes in neurofibromatosis type 1 [PDF]
Vojnosanitetski Pregled, 2016 Introduction. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is one of the most common single-gene disorders (mutation on chromosome 17q) and usually associated with cutaneous, musculoskeletal and neurological ...
Ilić Aleksandra +4 more
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Neurofibroma of the appendix and multiple gastrointestinal stromal tumors of small bowel in neurofibromatosis type 1 patient [PDF]
Korean Journal of Clinical Oncology, 2014 Neurofibromatosis type 1 (NF-1) is an autosomal dominant hereditary disease with association of tumorous condition of body. Although the pathogenesis of tumorous condition with NF-1 is unclear, there were several reports for gastrointestinal tumors ...
Gui-Ae Jeong
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Orphanet Journal of Rare Diseases, 2021 Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain.
I. Gallais Sérézal +5 more
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