Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis
Abstract. Introduction:. Pain is an often underestimated symptom in patients with neurofibromatosis (NF) and schwannomatosis (SWN), yet it may have a profound impact on health-related quality of life. Objective:. To assess the characteristics of neuropathic pain and small nerve fiber impairment in p...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer
2025-06-01
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| Series: | PAIN Reports |
| Online Access: | http://journals.lww.com/painrpts/fulltext/10.1097/PR9.0000000000001285 |
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| author | Eva Meller Annsophie Amann Rayaz A. Malik Daniel Kampik Cordula Matthies Nurcan Üçeyler |
| author_facet | Eva Meller Annsophie Amann Rayaz A. Malik Daniel Kampik Cordula Matthies Nurcan Üçeyler |
| author_sort | Eva Meller |
| collection | DOAJ |
| description | Abstract. Introduction:. Pain is an often underestimated symptom in patients with neurofibromatosis (NF) and schwannomatosis (SWN), yet it may have a profound impact on health-related quality of life.
Objective:. To assess the characteristics of neuropathic pain and small nerve fiber impairment in patients with NF.
Methods:. In this case-control study, we enrolled 51 patients who fulfilled the diagnostic criteria for neurofibromatosis type 1 (NF1), NF2-related schwannomatosis (SWN-NF2), and schwannomatosis-not otherwise specified (SWN-NOS). Patients completed validated questionnaires for pain and health-related quality of life and underwent neurological examination, nerve conduction studies, nerve sonography, quantitative sensory testing (QST), distal and proximal skin-punch biopsy, and corneal confocal microscopy (CCM).
Results:. Pain was reported by 28 of 51 (55%) patients with 18 of 51 (35%) suffering from neuropathic pain. Pain was chronic (≥3 months) in all patients with neuropathic pain. In 28 of 51 (55%) patients, skin biopsies revealed signs of denervation, while 7 of 51 (14%) patients exhibited ≥2 pathological small fiber tests and were classified as having small fiber impairment.
Conclusion:. Neuropathic pain and small fiber abnormalities are prevalent among patients with NF as well as SWN. Although no clear correlation between small fiber damage and painful neuropathy was found, these findings need special attention and correct categorization to offer efficient analgesic treatment. |
| format | Article |
| id | doaj-art-dbb8f490d2de4ced9830b69a7480e52c |
| institution | DOAJ |
| issn | 2471-2531 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Wolters Kluwer |
| record_format | Article |
| series | PAIN Reports |
| spelling | doaj-art-dbb8f490d2de4ced9830b69a7480e52c2025-08-20T03:12:22ZengWolters KluwerPAIN Reports2471-25312025-06-01103e128510.1097/PR9.0000000000001285PR90000000000001285Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosisEva Meller0Annsophie Amann1Rayaz A. Malik2Daniel Kampik3Cordula Matthies4Nurcan Üçeyler5Departments of a Neurosurgery andb Neurology, University Hospital Würzburg, Würzburg, Germanyc Weill Cornell Medicine-Qatar, Ar Rayyān, Doha, Qatard Departement of Ophthalmology, University Hospital Würzburg, Würzburg, GermanyDepartments of a Neurosurgery andb Neurology, University Hospital Würzburg, Würzburg, GermanyAbstract. Introduction:. Pain is an often underestimated symptom in patients with neurofibromatosis (NF) and schwannomatosis (SWN), yet it may have a profound impact on health-related quality of life. Objective:. To assess the characteristics of neuropathic pain and small nerve fiber impairment in patients with NF. Methods:. In this case-control study, we enrolled 51 patients who fulfilled the diagnostic criteria for neurofibromatosis type 1 (NF1), NF2-related schwannomatosis (SWN-NF2), and schwannomatosis-not otherwise specified (SWN-NOS). Patients completed validated questionnaires for pain and health-related quality of life and underwent neurological examination, nerve conduction studies, nerve sonography, quantitative sensory testing (QST), distal and proximal skin-punch biopsy, and corneal confocal microscopy (CCM). Results:. Pain was reported by 28 of 51 (55%) patients with 18 of 51 (35%) suffering from neuropathic pain. Pain was chronic (≥3 months) in all patients with neuropathic pain. In 28 of 51 (55%) patients, skin biopsies revealed signs of denervation, while 7 of 51 (14%) patients exhibited ≥2 pathological small fiber tests and were classified as having small fiber impairment. Conclusion:. Neuropathic pain and small fiber abnormalities are prevalent among patients with NF as well as SWN. Although no clear correlation between small fiber damage and painful neuropathy was found, these findings need special attention and correct categorization to offer efficient analgesic treatment.http://journals.lww.com/painrpts/fulltext/10.1097/PR9.0000000000001285 |
| spellingShingle | Eva Meller Annsophie Amann Rayaz A. Malik Daniel Kampik Cordula Matthies Nurcan Üçeyler Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis PAIN Reports |
| title | Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis |
| title_full | Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis |
| title_fullStr | Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis |
| title_full_unstemmed | Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis |
| title_short | Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis |
| title_sort | clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis |
| url | http://journals.lww.com/painrpts/fulltext/10.1097/PR9.0000000000001285 |
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