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Intravenous immunoglobulin therapy in erythromelalgia management: a case report.
Einstein (Sao Paulo)
March 2025
Internal Medicine Department, Real Hospital Português de Beneficência em Pernambuco, Recife, PE, Brazil.
A 49-year-old woman presented with a 16-year history of burning pain, warmth, redness, and edema in both toes, feet, legs and calves. Despite extensive medical testing, including genetic analysis, no specific cause was identified. Initial treatments failed to improve symptoms, leading to impaired quality of life and mental health.
View Article and Find Full Text PDFErythromelalgia and the Association With Paraproteinemias: A Retrospective Case Series.
Int J Dermatol
February 2025
University of Louisville, Department of Medicine, Division of Dermatology, Louisville, Kentucky, USA.
Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients.
Acta Derm Venereol
January 2025
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin, predominantly involving the hands and feet. Symptoms are induced or aggravated by warming and relieved by cooling.
View Article and Find Full Text PDFThe Cutaneous Pathology of Erythromelalgia and Its Role in Establishing Critical Clues Regarding Pathogenesis.
Am J Dermatopathol
March 2025
Department of Dermatology, Brown University, Providence, RI.
Erythromelalgia, a rare cutaneous pain syndrome, is characterized by acral burning pain and flushing, often alleviated by cold and rest. Primary erythromelalgia is caused by gain-of-function mutations of genes encoding for sodium channels, resulting in hyperexcitability of pain signaling neurons. Autoimmunity and hematologic dyscrasias such as thrombocythemia have been implicated in secondary erythromelalgia.
View Article and Find Full Text PDFPediatric erythromelalgia from multidisciplinary perspectives: a scoping review.
Pediatr Res
January 2025
Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.
Erythromelalgia is a rare, chronic pain disorder characterized by the triad of intense burning sensation, warmth, and redness, primarily involving the hands and feet, and usually alleviated by cold and worsened by heat. The objective of this scoping review was to: 1) map the existing literature on erythromelalgia in youth, 2) identify knowledge gaps, and 3) inform directions for future research in pediatric erythromelalgia. One hundred and sixty-seven studies reporting 411 cases of childhood-onset erythromelalgia were identified.
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