Abstract
Introduction:Erythromelalgia or erythermalgia, is a peripheral paroxysmal vascular disease of the distal extremities, although it can also affect the face, ears and knees. It is characterized by increased skin temperature, erythema and intermittent episodes of burning pain. Likewise, it can also be characterized by lesions of the oral mucosa.Case report:Here we present the case of a 6-year old female with EM presenting ulcerative and scaly lesions in the oral cavity and whitish linear branching ulcerative lesions on the tongue. Fabry disease and rheumatoid conditions were ruled out and there were no mutations in SCN9A gene. Treatment with voltage-gated sodium channel blockers (oxcarbacepine-Trileptal®) and anticonvulsants (Perampanel-Fycompa®) did not improve pain symptoms, however, performing moderate physical activity, use of comfortable footwear, and local application of cold resulted in the restoration of patient´s quality of lifeConclusion:To our knowledge, this report described for the first time, the successful treatment of ulcerative lesions of the oral mucosa in Erythromelalgia. We believe that the treatments described here (exercise, comfortable footwear and local application of cold) could improve the quality of life of Erythromelalgia patients.
Highlights
Erythromelalgia or erythermalgia, is a peripheral paroxysmal vascular disease of the distal extremities, it can affect the face, ears and knees
To our knowledge, this report described for the first time, the successful treatment of ulcerative lesions of the oral mucosa in Erythromelalgia
We believe that the treatments described here could improve the quality of life of Erythromelalgia patients
Summary
Erythromelalgia or erythermalgia, is a peripheral paroxysmal vascular disease of the distal extremities, it can affect the face, ears and knees. It is characterized by increased skin temperature, erythema and intermittent episodes of burning pain. Considered by National Organization for Rare Disorders (NORD) as a rare disease, Erythromelalgia or Erythelmalgia (EM) is a rare peripheral paroxysmal vascular disease that can appear in two forms: i) primary, associated with autosomal dominant inheritance (involving the SCN9A gene, which encodes the subunit protein of Nav 1.7 voltage-gated sodium channels) with no genetic correlation and of unknown cause, and ii) secondary, associated with different disorders such as autoimmune and neurological diseases, myeloproliferative medullary disorders, hypertension, venous insufficiency, diabetes mellitus, systemic lupus erythematosus, lichen planus, arthritis, monosodium urate crystal accumulation, or as a sideeffect of certain drugs (bromocriptine or nifedipine) [1 - 3]. Its clinical features are commonly associated to nightly rest, in the most severe cases, symptoms may persist during the whole day, which can affect patients’ normal activities to the point of partially or compl-
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