Hereditary erythromelalgia in an adolescent. Clinical observation of a rare disease

Abstract

BACKGROUND: Erythromelalgia is a severe, chronic, progressive disease with periods of exacerbation and remission. A triad of symptoms characterizes the disease: reddening of the extremities, a local increase in skin temperature, and pronounced neuropathic pain syndrome. There are sporadic works in the Russian literature that present data on erythromelalgia, particularly in children. The publications are descriptions of clinical observations with the assessment of the clinical picture of the patient regarding cutaneous manifestations and surgical care at the time of hospitalization, time spent in the hospital, and during the period of his chronic disease exacerbation.

CLINICAL CASE: A clinical case of hereditary erythromelalgia in a 15-year-old adolescent with a detailed description of the disease course since the initial manifestation is presented.

DISCUSSION: During three and a half years, despite early diagnosis and application of consistent pharmacotherapy including nonsteroidal anti-inflammatory drugs, antidepressants, anticonvulsants, antihistamines, opioids, hormonal therapy, local use of lidocaine, ointment with silver content, the disease was progressive, with the resistance of pain syndrome to the treatment, with periods of exacerbation and partial remission.

CONCLUSIONS: The presented clinical observations show the need to assess the patient as a chronic and intractable patient. Considering the lack of understanding of the apparent cause of this disease and its diverse manifestations in the clinical picture, a multidisciplinary approach with a search for new treatment methods, including neurosurgical techniques of chronic pain treatment, is required for patients with erythromelalgia.

Keywords

erythromelalgia / Mitchell syndrome / pain / limb redness / mutations in the SCN9A gene / Nav1.7 sodium channels

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Toriya V.G., Savina M.V., Vissarionov S.V., Baindurashvili A.G.