Primary Erythromelalgia Complicated by Cellulitis: A Case Report and Review of Literature

Sara Sharif¹, Lubaina Haider¹, Latoya Freeman¹ and Isabel M. McFarlane^1,

¹Department of Internal Medicine, State University of New York, Downstate Health Sciences University, Brooklyn, NY 11203 USA

Cite this paper

Sara Sharif, Lubaina Haider, Latoya Freeman and Isabel M. McFarlane. Primary Erythromelalgia Complicated by Cellulitis: A Case Report and Review of Literature. American Journal of Medical Case Reports. 2020; 8(6):153-158. doi: 10.12691/AJMCR-8-6-5

Abstract

Background: Erythromelalgia is a rare disease with increasing incidence. It manifests as episodic painful red extremities triggered by heat. External cooling provides temporary symptomatic relief but may lead to complications such as cellulitis. Management includes trigger control, behavioral therapy and pain management. Case Presentation: A 47-year-old African American male presented to the hospital with worsening bilateral lower extremity pain for three months. It was episodic, triggered by running and associated with erythema and swelling. Patient used cold water immersion and air conditioning for pain relief. One week prior to presentation, he developed painful blisters on his feet. On presentation, vital signs were stable, patient was afebrile. Acute infection was ruled out and he was discharged with outpatient rheumatology follow up for erythromelalgia. He returned one week later with worsening symptoms. CT scan of lower extremities indicated bilateral cellulitis. Patient was managed by medicine, dermatology, rheumatology, and podiatry for cellulitis, fungal infection, trench foot and primary erythromelalgia with antibiotics, antifungals, gabapentinoids and behavioral therapy. His infection resolved and pain improved. He was discharged with outpatient rheumatology follow up. Discussion: Erythromelalgia is a highly debilitating disease with episodes of burning erythematous extremities triggered by increase in skin temperature. Patients seek pain relief by excessive external cooling. Pathophysiology involves gain of function mutation in voltage gated sodium channels causing autoregulatory dysfunction of skin. Underlying disease mechanisms are ambiguous and may involve unidentified genetic components and unknown triggers. It is a clinical diagnosis. Therapy requires a multidisciplinary approach. Complications should be promptly addressed given attention next to symptomatic relief. There is a lack of disease specific treatment and complete remission is unlikely. Our patient responded well to gabapentinoids and behavioral therapy.

Keywords

erythromelalgia, cellulitis, sodium-gated voltage channels, gain of function mutation, antibiotics

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	Andersen, L.K. and M.D. Davis, Sex differences in the incidence of skin and skin-related diseases in Olmsted County, Minnesota, United States, and a comparison with other rates published worldwide. Int J Dermatol, 2016. 55(9): p. 939-55.
[2]	Leroux, M.B., Erythromelalgia: a cutaneous manifestation of neuropathy? An Bras Dermatol, 2018. 93(1): p. 86-94.
[3]	Klein-Weigel, P.F., T.S. Volz, and J.G. Richter, Erythromelalgia. Vasa, 2018. 47(2): p. 91-97.
[4]	Alhadad, A., et al., Erythromelalgia: Incidence and clinical experience in a single centre in Sweden. Vasa, 2012. 41(1): p. 43-8.
[5]	Chinn, G. and Z. Guan, Case Report and Literature Review: Interventional Management of Erythromelalgia. Transl Perioper Pain Med, 2019. 6(4): p. 91-97.
[6]	Ito, M., et al., Behavioral therapy ceased cold water immersion dependence in a patient with familial erythromelalgia caused by SCN9A mutation. JAAD Case Rep, 2019. 5(9): p. 806-808.
[7]	Vanwonterghem, Y. and S. Shadid, Simvastatin-induced erythromelalgia: less is more. Acta Clin Belg, 2019: p. 1-2.
[8]	Gerwin, R.D., Botulinum Toxin as Successful Treatment of Refractory Erythromelalgia Pain. Pain Med, 2019. 20(6): p. 1251-1253.
[9]	Golinska, J., M. Sar-Pomian, and L. Rudnicka, Erythromelalgia successfully treated with sulodexide. Clin Exp Dermatol, 2019.
[10]	Janicki, P.K., V. Ruiz-Velasco, and S. Adhikary, Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel. Cureus, 2019. 11(5): p. e4587.
[11]	Hellmann, M., B. Imbert, and J.L. Cracowski, Microvascular imaging of primary erythromelalgia. Pol Arch Intern Med, 2019. 129(9): p. 632-633.
[12]	Cinats, A.K. and R.M. Haber, Pediatric red ear syndrome: A case report of an erythromelalgia type and review of the literature. Pediatr Dermatol, 2019. 36(5): p. 686-689.
[13]	Huppke, P., et al., Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp Neurol, 2019. 320: p. 112958.
[14]	Liu, J.H., et al., Erythermalgia Involving the Face Alone: Two Case Reports. J Oral Facial Pain Headache, 2019. 33(3): p. e15-e18.
[15]	Lee, C.E., et al., Pediatric erythromelalgia treated with epidural ropivacaine infusion. JAAD Case Rep, 2019. 5(4): p. 306-308.
[16]	Lorello, G.R. and A. Perlas, Erythromelalgia and Peripheral Nerve Block: A Case Report. A A Pract, 2019. 12(8): p. 264-266.
[17]	Tham, S.W., et al., Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia. BMJ Case Rep, 2017. 2017.
[18]	Mitchell, S.W., ARTICLE I. The American Journal of the Medical Sciences (1827-1924), 1878. 76(151): p. 17.
[19]	Bibb, L.A., R.P. Winter, and S.S. Leicht, Cyclosporine-induced Erythromelalgia. Cureus, 2018. 10(10): p. e3506.
[20]	Vounotrypidis, P., et al., Vascular acrosyndromes in young adult population. Definition of clinical symptoms and connections to joint hypermobility. Clin Rheumatol, 2019. 38(10): p. 2925-2932.
[21]	Haehner, A., et al., Mutation in Nav 1.7 causes high olfactory sensitivity. Eur J Pain, 2018. 22(10): p. 1767-1773.
[22]	Davis, M.D., et al., Thermoregulatory sweat testing in patients with erythromelalgia. Arch Dermatol, 2006. 142(12): p. 1583-8.
[23]	Davis, M.D., T.W. Rooke, and P. Sandroni, Mechanisms other than shunting are likely contributing to the pathophysiology of erythromelalgia. J Invest Dermatol, 2000. 115(6): p. 1166-7.
[24]	Yang, Y., et al., Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet, 2004. 41(3): p. 171-4.
[25]	Arthur, L., et al., Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. J Pediatr, 2019. 206: p. 217-224.e9.
[26]	Eijkenboom, I., et al., Yield of peripheral sodium channels gene screening in pure small fibre neuropathy. J Neurol Neurosurg Psychiatry, 2019. 90(3): p. 342-352.
[27]	Rice, F.L., et al., Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin. Mol Pain, 2015. 11: p. 26.
[28]	Huang, C.W., et al., Anomalous enhancement of resurgent Na(+) currents at high temperatures by SCN9A mutations underlies the episodic heat-enhanced pain in inherited erythromelalgia. Sci Rep, 2019. 9(1): p. 12251.
[29]	Mork, C., et al., Reduced skin capillary density during attacks of erythromelalgia implies arteriovenous shunting as pathogenetic mechanism. J Invest Dermatol, 2002. 119(4): p. 949-53.
[30]	Sekiyama, J.Y., et al., Reliability of widefield nailfold capillaroscopy and video capillaroscopy in the assessment of patients with Raynaud's phenomenon. Arthritis Care Res (Hoboken), 2013. 65(11): p. 1853-61.
[31]	Willekens, I., et al., Bone scan findings in erythromelalgia. Hell J Nucl Med, 2018. 21(2): p. 151-152.
[32]	Mis, M.A., et al., Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp. J Neurosci, 2019. 39(3): p. 382-392.
[33]	Liu, T., et al., A large temperature fluctuation may trigger an epidemic erythromelalgia outbreak in China. Sci Rep, 2015. 5: p. 9525.
[34]	Davis, M.D., et al., Natural history of erythromelalgia: presentation and outcome in 168 patients. Arch Dermatol, 2000. 136(3): p. 330-6.
[35]	Goldberg, Y.P., et al., Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker. Pain, 2012. 153(1): p. 80-5.
[36]	Pagani-Estevez, G.L., et al., Erythromelalgia: Identification of a corticosteroid-responsive subset. J Am Acad Dermatol, 2017. 76(3): p. 506-511.e1.