ArticleArchives of craniofacial surgery2022
Current concepts of neurofibromatosis type 1: pathophysiology and treatment.
Article in Archives of craniofacial surgery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Surgical management of a plexiform neurofibroma in neurofibromatosis type 1: The haemostatic challenge.JPRAS open · 2026Article
- Article
- [Cutaneous and skeletal manifestations of systemic diseases: SKIBO].Radiologie (Heidelberg, Germany) · 2026Review
- Article
- Excessive intraoperative hemorrhage during orthognathic surgery in a patient with neurofibromatosis type 1: a case report and literature review.Oral and maxillofacial surgery · 2026Review
- Outcomes of Surgical Intervention of Dystrophic Cervical Kyphosis in Patients with Neurofibromatosis Type 1: A Systematic Review.Spine surgery and related research · 2026Review
- Review
- Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.Molecular syndromology · 2025Article
- The endocannabinoidome-gut microbiome-brain axis as a novel therapeutic target for autism spectrum disorder.Journal of biomedical science · 2025Review
- Case Report: Concurrent neurofibromatosis type 1 with papillary thyroid carcinoma and gastrointestinal stromal tumor.Frontiers in oncology · 2025Article
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.Journal of neurodevelopmental disorders · 2024Review
- Targeted Muscle Reinnervation and Regenerative Peripheral Nerve Interfaces for Prophylactic Pain Control in Neurofibromatosis Type 1 Amputees.Plastic and reconstructive surgery. Global open · 2023Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity. From the perspective of plastic surgery, the most significant clinical symptoms, including disfiguration, peripheral neurologic symptoms, and skeletal abnormalities, are caused by various tumors originating from the affected nerves. Surgical removal is the standard of care for these tumors. However, the outcome is frequently unsatisfactory, facilitating the search for additional therapeutic adjuvants. Current trials of molecularly targeted therapies are promising. Abbreviations: CALMs, café-au-lait macules; CNs, cutaneous neurofibromas; FDG, 18F-fluoro-deoxy-glucose; MAPK, mitogen-activated protein kinase; MPNSTs, malignant peripheral nerve sheath tumors; MRI, magnetic resonance imaging; NF1, neurofibromatosis type 1; NIH, National Institutes of Health; PET, positron emission tomography; PN, plexiform neurofibromas; TME, tumor microenvironment.
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