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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Main Authors: Eva Meller, Annsophie Amann, Rayaz A. Malik, Daniel Kampik, Cordula Matthies, Nurcan Üçeyler
Format: Article
Language:English
Published: Wolters Kluwer 2025-06-01
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.
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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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