questionsmedicales.fr
Malformations et maladies congénitales, héréditaires et néonatales
Maladies génétiques congénitales
Syndromes néoplasiques héréditaires
Neurofibromatoses
Neurofibromatoses : Questions médicales fréquentes
Diagnostic
5
Neurofibromatose
Imagerie par résonance magnétique
Tests génétiques
Gènes NF1
Taches café au lait
Neurofibromes
Examen ophtalmologique
Tumeurs du nerf optique
Suivi médical
Complications
Symptômes
5
Neurofibromes
Douleurs nerveuses
Troubles cognitifs
Difficultés d'apprentissage
Neurofibromatose de type 2
Tumeurs auditives
Variabilité des symptômes
Neurofibromatose
Prévention
5
Dépistage précoce
Complications
Conseils génétiques
Risques
Groupes de soutien
Ressources éducatives
Sensibilisation
Campagnes d'information
Traitements
5
Médicaments
Gestion de la douleur
Essais cliniques
Thérapies ciblées
Douleurs chroniques
Thérapies physiques
Complications
5
Complications
Tumeurs malignes
Qualité de vie
Limitations fonctionnelles
Prévisibilité
Complications
Suivi régulier
Spécialistes
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Facteurs environnementaux
Risque
Mutations génétiques
Hérédité
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}
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"position": 10,
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"position": 11,
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"position": 12,
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"@type": "Question",
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"position": 14,
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"position": 15,
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"position": 16,
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}
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"name": "La chirurgie est-elle toujours nécessaire ?",
"position": 17,
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}
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{
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"name": "Des médicaments sont-ils utilisés ?",
"position": 18,
"acceptedAnswer": {
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}
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"name": "Y a-t-il des traitements expérimentaux ?",
"position": 19,
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}
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{
"@type": "Question",
"name": "Comment gérer les douleurs chroniques ?",
"position": 20,
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"@type": "Answer",
"text": "La gestion de la douleur peut inclure des thérapies physiques et des médicaments analgésiques."
}
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"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
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}
},
{
"@type": "Question",
"name": "Les tumeurs peuvent-elles devenir cancéreuses ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines tumeurs peuvent dégénérer en cancers, nécessitant une surveillance."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications peuvent entraîner des douleurs, des limitations fonctionnelles et des problèmes psychologiques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être anticipées, mais leur survenue varie selon les individus."
}
},
{
"@type": "Question",
"name": "Quel suivi est nécessaire pour les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier avec des spécialistes est essentiel pour gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de neurofibromatose augmentent le risque de développer la maladie."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
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"text": "Oui, les symptômes apparaissent généralement dans l'enfance ou l'adolescence."
}
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{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, aucun facteur environnemental n'a été clairement identifié comme un risque."
}
},
{
"@type": "Question",
"name": "Les hommes et les femmes sont-ils également affectés ?",
"position": 29,
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"text": "Oui, la neurofibromatose affecte les hommes et les femmes de manière égale."
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"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
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"text": "Oui, les mutations dans les gènes NF1 et NF2 peuvent être transmises de manière héréditaire."
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 07/03/2026
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
Pappas Center for Neuro-Oncology and Family Center for Neurofibromatosis, Massachusetts General Hospital, Department of Neurology, 55 Fruit Street, Yawkey 9E, Boston, MA 02114, USA.
Publications dans "Neurofibromatoses" :
2 publications dans cette catégorie
Affiliations :
International Center for Neurofibromatoses (ICNF), Department of Neurology, University MedicalCenter Hamburg-Eppendorf
Publications dans "Neurofibromatoses" :
2 publications dans cette catégorie
Affiliations :
Integrated Brain Health Clinical and Research Program, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, 1 Bowdoin Square Suite 100, Boston, MA, USA. avranceanu@mgh.harvard.edu.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Pappas Center for Neuro-Oncology and Family Center for Neurofibromatosis, Massachusetts General Hospital, Department of Neurology, 55 Fruit Street, Yawkey 9E, Boston, MA 02114, USA. Electronic address: JTJordan@MGH.Harvard.edu.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
International Center for Neurofibromatoses (ICNF), Department of Neurology, University MedicalCenter Hamburg-Eppendorf
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Neurofibromatosis Center, Department of Neurosurgery, Helios Hospital Erfurt
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Leibniz Institute on Aging, Fritz Lipmann Institute (FLI), Jena
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Department of Oromaxillofacial Surgery, University Medical Center Hamburg-Eppendorf
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Neurofibromatosis Center, Department of Neurosurgery, Helios Hospital Erfurt
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, Division of Neurology, UT Southwestern Medical Center, Dallas, TX 75235, USA.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, Division of Hematology/Oncology, UT Southwestern Medical Center, Dallas, TX 75235, USA.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, Division of Hematology/Oncology, UT Southwestern Medical Center, Dallas, TX 75235, USA.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri; Koç University School of Medicine, Istanbul, Turkey.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
University of Washington School of Medicine, Seattle, Washington.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Division of Hematology and Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri. Electronic address: hirbea@wustl.edu.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Division of Paediatric Neurosurgery, Department of Neurosurgery, University Hospital of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany. julian.zipfel@med.uni-tuebingen.de.
Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany. julian.zipfel@med.uni-tuebingen.de.
Centre for Neurofibromatosis at the Centre of Rare Diseases, University Hospital and University of Tübingen, Tübingen, Germany. julian.zipfel@med.uni-tuebingen.de.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany.
Centre for Neurofibromatosis at the Centre of Rare Diseases, University Hospital and University of Tübingen, Tübingen, Germany.
Publications dans "Neurofibromatoses" :
1 publication dans cette catégorie
Affiliations :
Centre for Neurofibromatosis at the Centre of Rare Diseases, University Hospital and University of Tübingen, Tübingen, Germany.
Department of Paediatric Neurology, University Children's Hospital Tübingen, Tübingen, Germany.
Publications dans "Neurofibromatoses" :
To test the effects of the Relaxation Response Resiliency Program - Neurofibromatosis (3RP-NF), a mind-body resilience program for people with NF, on resilience factors from baseline to post-treatment...
This is a secondary analysis of a fully powered randomized clinical trial (RCT) of 3RP-NF and health education control (HEP-NF). We recruited adults with NF1, NF2, or schwannomatosis who reported stre...
We enrolled 228 individuals (M...
3RP-NF showed promise in sustainably improving coping abilities amongst people with NF....
ClinicalTrials.gov Identifier: NCT03406208. Registration submitted December 6, 2017, first patient enrolled October 2017....
Neurofibromatosis type 1, also known as Recklinghausen's disease, is a neurocutaneous tumor syndrome that is genetically determined and is associated with infestation of the integument with neurofibro...
For this study, we conducted a retrospective data collection via questionnaire on the quality of life before and after the surgical removal of cutaneous neurofibromas at the Department of Dermatology,...
Our study indicates an improved quality of life after surgery for cutaneous neurofibromas, especially regarding limitations in everyday life, self-consciousness, the choice of clothing, and leisure ac...
In relation to the high level of satisfaction with the surgical and cosmetic results and also the positive influence on quality of life, our study indicates a favorable risk-benefit ratio for the rese...
Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch ...
SummarySchwannoma, a type of benign neurological tumour arising from Schwann cells, is commonly seen in the head and neck region. However, the incidence of cervical lymph node schwannoma is extremely ...
BACKGROUND Neurofibromatosis 1 is a neurocutaneous disorder with multisystemic manifestations. When patients are lacking overt cutaneous manifestations, diagnosis may be delayed and may complicate dia...
The 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 was to evaluate the psychometric properties of the burden of ne...
The 15-item BoN was translated into Persian, and no items were removed based on content validity. The adequacy of the sample was acceptable (KMO = 0.902), and Bartlett's test of sphericity revealed st...
The Persian version of the BoN is an acceptable tool in terms of structure and content, and it specifically assesses the practical aspects of daily activities for patients with neurofibromatosis....
While the Neurofibromatoses have been observed and classified by their phenotypes for several centuries, their great variability constitutes a considerable challenge in diagnostics and therapy selecti...
All three NF types are outlined by the following measures: the history of their clinical detection, the typical appearance, the underlying genetic constitution and its consequences, the official diagn...
About 50% of NF patients have a positive family history and the other 50% are the first symptomatic generations and suffer from new mutations. A considerable (unknown) number of patients do not exhibi...
As the neurofibromatosis belong to the so-called rare diseases, all patients with a suspicion or diagnosis of NF should get the opportunity to present to an interdisciplinary NF Center, mostly situate...
This retrospective monocentric study aimed to evaluate long-term auditory brainstem implant (ABI) function in patients with neurofibromatosis type 2, and to investigate the prognostic factors for ABI ...
Between 1997 and 2022, 27 patients with at least five years of follow-up underwent implantation with 32 ABIs. At 1- and 5-years post-implantation and at last follow-up, ABIs were classified as used or...
One year post-implantation, 74% patients were ABI-users and 66% of the ABIs were used. Two of these patients were non-users at five years, and another two at last follow-up (14 ± 5.2 years); 54% of th...
ABIs are indicated in case of bilateral deafness with a non-functional cochlear nerve. Half the patients with ABIs used their implants and auditory performance remained stable over time, except in cas...
Neurofibromatosis type 1 is a genetic syndrome characterized by a wide variety of tumor and non-tumor manifestations. Bone-related issues, such as scoliosis, tibial dysplasia, and low bone mineral den...
A 58-years old man was seen at the dermatology outpatient clinic because of a spot near his ear. However, during physical examination soft-elastic papules on his left shoulder were visible. As the pat...