Shear-Wave-Elastography in Neurofibromatosis Type I [PDF]
Diagnostics, 2022 Ultrasound shear wave elastography (SWE) is an increasingly used imaging modality that expands clinical ultrasound by measuring the elasticity of various tissues, such as the altered elasticity of tumors.
Deborah Staber +6 more
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Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children [PDF]
Acta Dermato-Venereologica, 2023 Cafe-au-lait macules are the most distinctive clinical finding in neurofibromatosis type I. The aim of this prospective study of Greek children diagnosed with neurofibromatosis type I was to describe the dermatological phenotype and to analyse the ...
Lamprini Nasi +10 more
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Coexistence of neurofibromatosis type I, multiple sclerosis, and ischemic stroke: A case report and literature review [PDF]
SAGE Open Medical Case ReportsNeurofibromatosis type I and multiple sclerosis, when considered separately, are associated with a higher risk of cerebrovascular accident. The coexistence of neurofibromatosis type I and multiple sclerosis may lead to a further increase in ...
Laura Perucca +2 more
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Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization [PDF]
Case Reports in Surgery, 2021 Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer.
Amina Chaka +5 more
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Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis [PDF]
LifeBackground/Objectives: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by various clinical manifestations, including significant neurovascular complications.
Marialuisa Zedde, Rosario Pascarella
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A Case for Gastrointestinal Specific Polyps in Neurofibromatosis Type I [PDF]
Gastro Hep AdvancesNeurofibromatosis type I (NF-1) is a common, autosomal dominant tumor syndrome whose diagnostic criteria consists of neuro-ophthalmologic, dermatologic, and/or osseous findings with concomitant genetic testing.
Jonathan Rozenberg +4 more
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Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels [PDF]
Italian Journal of PediatricsBackground Neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by extremely different phenotypes, sometimes including reduced bone mass.
Giulia Rodari +14 more
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Bioethical aspects in type I neurofibromatosis [PDF]
Romanian Journal of Pediatrics, 2021 Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest are ...
Codruta Diana Petchesi +4 more
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Multiple glomus tumor in a patient with neurofibromatosis type 1: a case report and literature review [PDF]
Surgical & Cosmetic Dermatology, 2020 Neurofibromatosis type I (NF1) is an autosomal dominant disease, with an incidence of 1/2,500-3,000 births and a prevalence of approximately 1/4,000-5,000 individuals. Genetic mutations in the NF1 gene cause it, affecting neural and skin tissues.
Marcia Ferraz Nogueira +3 more
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Facial Plexiform Neurofibromatosis Type I
Bengal Journal of Otolaryngology and Head Neck Surgery, 2020 Introduction Plexiform neurofibroma is a benign tumor of peripheral nerves arising from a proliferation of all neural elements. Clinically, it presents as a subcutaneous mass which feels like a "bag of worms".
Bapan Devnath, Debraj Dey, Avinava Ghosh
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