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Neurofibromatosis type 1 with three synchronous tumors
Neurofibromatosis type 1, resulting from dominantly inherited mutations affecting neurofibromin, is among the most common human genetic syndromes...
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Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report
BackgroundNeurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other...
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Giant sacral schwannoma in a neurofibromatosis type 2 patient
BackgroundNeurofibromatosis type 2 is an autosomal dominant disorder, mainly characterized by multiple neurological lesions, such as schwannomas,...
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Pathological Hip Dislocation in a Neurofibromatosis Patient Secondary to Capsular Hemangioma
Neurofibromatosis is an autosomal-dominant multi-system disease affecting the nervous, integumentary, ocular, and musculoskeletal systems. In the...
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Risk factors for intraoperative hemorrhage of Type I neurofibromatosis
IntroductionNeurofibromatosis (NF) is an inherited disease and a benign tumor originating from nerve sheath cells. Neurofibromatosis type I (NF1) is...
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Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution
ObjectiveTo evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for...
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Giant gluteal and vesical plexiform neurofibromas in a patient with neurofibromatosis type 1: a case report
BackgroundNeurofibromatosis type 1 is a neurocutaneous genetic disorder caused by mutations in the NF1 gene, resulting in the formation of benign...
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Burden of adult neurofibromatosis 1 questionnaire: translation and psychometric properties of the Persian version
BackgroundThe notion of “burden” has taken a key place in the evaluation of care, particularly in the case of rare diseases. The aim of this study...
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When Neurofibromatosis Meets Diabetes: A Long-Term Follow-up in a Pediatric Case Report
Few neurofibromatosis cases described so far in the pediatric population shed light on the rare association between neurofibromatosis and diabetes...
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Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report
BackgroundInflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present...
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Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis
AbstractNeurofibromatosis type I (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis represent a diverse group of genetic tumor predisposition...
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Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease
Neurocutaneous syndromes (also known as phakomatoses) are heterogenous group of disorders that involve derivatives of the neuroectoderm. Each disease...
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Incidence of tethered cord syndrome in neurofibromatosis types 1 and 2 pediatric patients: a population-level analysis
PurposeTethered spinal cord syndrome (TCS) is characterized by cutaneous attachments on the filum terminale that stretch the spinal cord, leading to...
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Neurofibromatosis type 1 with huge intrathoracic meningoceles misdiagnosed as pleural effusion: A case report and literature review
BackgroundNeurofibromatosis type 1 is a genetic disease that affects multiple organs and systems, leading to various clinical manifestations. In...
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Pain Related Quality of Life in Neurofibromatosis Type 1: A Narrative Review
Purpose of Review: The purpose of this narrative review is to summarize pain symptomatology and mechanisms in neurofibromatosis type 1 (NF1), discuss...
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Inflammatory/juvenile-like polyps in neurofibromatosis type 1 associated with epithelial dysplasia
The term “juvenile-like (inflammatory/hyperplastic) mucosal polyps” (JLIHMP) has been recently introduced to describe a spectrum of polypoid lesions...
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Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions
Neurofibromatosis type 2 ( NF2 )-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The...
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Minimal clinically important difference in the World Health Organization Quality of Life Brief (WHOQOL-BREF) for adults with neurofibromatosis
PurposeThis study aimed to estimate minimal clinically important difference (MCID) values for the World Health Organization Quality of Life Brief...
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Case of embryonal tumor multilayered rosettes in a patient with neurofibromatosis type 1
BackgroundETMR is a unique and highly malignant brain tumor mostly occurring in infants. This report provides a comprehensive overview of the...
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Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature
BackgroundNeurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and...
