ArticlePain reports2025
Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis.
Article in Pain reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- The intrinsic reason why complementary tests (clinical neurophysiology, neuroimaging, skin biopsy) cannot establish the diagnosis of neuropathic pain.Frontiers in pain research (Lausanne, Switzerland) · 2025Article
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Authors and funding
6 authors.
Funding
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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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