Erythromelalgia (EM) is a rare disorder of small nerve fibres that leads to painful flushing and burning paresthesisas of the distal extremities and is typically associated with heat or physical activity; relief is found using cooling measures. Its effects are often debilitating in the general population, but this patient had an excellent response to specific treatment options and continues to maintain employment, something many individuals suffering from EM are unable to do. His presentation was also unique in that he had isolated, proximal involvement as his condition progressed whereas typically only the distal extremities are affected. Routine electromyography and nerve conduction studies were normal, whereas nerve biopsy demonstrated findings of small fibre neuropathy. Ultimately, his condition was managed with carbamazepine and his symptoms have almost entirely resolved to date.
- pain (neurology)
- neuro genetics
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Contributors All contributing authors provided substantial contributions to the creation of this work including drafting, revising and final approval of the submission. All authors are accountable for all aspects of the work. PP was the lead author on writing this manuscript. YZ, LHU and CE all assisted with writing of this submission and all provided critical feedback and helped shape the analysis, discussion and manuscript. CE assisted with research and data acquisition regarding this condition. YZ and LHU helped supervise the project.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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