ArticleOrphanet journal of rare diseases2020
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
96 citing papers in PubMed, 2 syntheses or guidelines pooled it, 182 citations in OpenAlex.
- Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.Journal of medical genetics · 2025Pooled it
- Epilepsy in NF1: a systematic review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Pooled it
- Pharmacokinetics and Safety of Selumetinib Granule Formulation in Children With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas (SPRINKLE; phase I/II).Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026Trial
- Durable responses to long-term selumetinib in Chinese pediatric NF1 patients with inoperable plexiform neurofibromas.Frontiers in pharmacology · 2026Trial
- Insights from a Multi-Country Survey: Healthcare Providers' Perspectives on the Management of Adults with Neurofibromatosis Type 1 and Plexiform Neurofibroma.Neurology and therapy · 2026Article
- Perspectives of Adult Patients and Caregivers on the Management and Challenges Associated with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Multinational Qualitative Survey.Neurology and therapy · 2026Article
- Radical Resection of a Giant Facial Plexiform Neurofibroma in a Resource-Limited Setting.Plastic surgery (Oakville, Ont.) · 2026Article
- Spontaneous hemothorax in Neurofibromatosis type 1 with a giant intrathoracic meningocele and intracystic hematoma: Diagnostic value of postmortem CT.Radiology case reports · 2026Article
- Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.Dermatology online journal · 2026Article
- Impact of Selumetinib on Long-Term Pain Medication Utilization in Pediatric Patients: A Retrospective US Claims Database Study.Pain and therapy · 2026Article
- Pheochromocytoma and primary hyperparathyroidism: a very rare association in a neurofibromatosis type 1 patient unmasked by Takotsubo syndrome.Endocrinology, diabetes & metabolism case reports · 2026Article
- Neurofibromatosis type 1-plexiform neurofibromas: Integrating treatment across pediatric and adult populations.Neuro-oncology · 2026Review
- Hepatic plexiform neurofibroma a rare manifestation of neurofibromatosis type 1: A case report and literature review.Radiology case reports · 2026Article
- Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation.Clinical case reports · 2026Article
- Oral findings and oral health-related quality of life in children with neurofibromatosis type 1: a case-control study.BMC oral health · 2026Article
- Diagnosis, treatment management, and challenges in neurofibromatosis type 1: a case report with mixed features.Annals of medicine and surgery (2012) · 2026Article
- Patient and caregiver experiences with selumetinib for the treatment of pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas.Neuro-oncology practice · 2026Article
- Neurofibromin 1 (International journal of molecular sciences · 2026Article
- A Discovery of Potentially Hereditary Cardiac Angiosarcoma.JACC. Case reports · 2026Article
- Standalone NF1: guiding the transition from paediatric to adult care.Drugs in context · 2026Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy and have a life expectancy about 10-15 years shorter than the general population. The mainstay of management of NF1 is a patient-centered longitudinal care with age-specific monitoring of clinical manifestations, aiming at the early recognition and symptomatic treatment of complications as they occur. Protocole national de diagnostic et de soins (PNDS) are mandatory French clinical practice guidelines for rare diseases required by the French national plan for rare diseases. Their purpose is to provide health care professionals with guidance regarding the optimal diagnostic and therapeutic management of patients affected with a rare disease; and thus, harmonizing their management nationwide. PNDS are usually developed through a critical literature review and a multidisciplinary expert consensus. The purpose of this article is to present the French guidelines on NF1, making them even more available to the international medical community. We further dwelled on the emerging new evidence that might have therapeutic potential or a strong impact on NF1 management in the coming feature. Given the complexity of the disease, the management of children and adults with NF1 entails the full complement healthcare providers and communication among the various specialties.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.