Erythromelalgia in a patient with feet erythema and cyanosis

• Published in: BMJ case reports Vol. 16; no. 1; p. e253786
• Main Authors: El Khatib, Khaled, Gerges, Zeina, Azar, Nagham
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 20.01.2023; BMJ Publishing Group LTD; BMJ Publishing Group
• Subjects: Adolescent; Case reports; Case Reports: Rare disease; Cold; Cooling; Cyanosis; Cyanosis - etiology; Erythema; Erythema - complications; Erythema - etiology; Erythromelalgia - complications; Erythromelalgia - diagnosis; Exercise; Heat; Humans; Hypoxia; Laboratories; Legs; Lower Extremity - pathology; Male; Malignant and Benign haematology; Medical education; Mutation; Pain; Pain (neurology); Pain - diagnosis; Pathophysiology; Patients; Pediatrics; Preventative pediatrics; Rare diseases; Teenagers; Medical education; Preventative pediatrics; Pain (neurology); Malignant and Benign haematology
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2022-253786

Erythromelalgia is a rare disease characterised by a triad of a clinical syndrome of redness, warmth and painful extremities. We present the case of a male adolescent with no prior medical history who presents to our family medicine clinic with a 3-month history of bilateral feet erythema followed by episodes of cyanosis in bilateral toes. Given his history, the findings on clinical examination, and the lack of any pathology on the diagnostic testing, the patient is diagnosed with erythromelalgia. He is then counselled on both pharmacological and non-pharmacological treatments for his condition and is discharged on non-pharmacological treatment options such as leg elevation, cooling with a fan and limiting exposure to heat. The patient is also advised to perform an annual complete blood count given the association of erythromelalgia with myeloproliferative disorders.