Eritromelalgia primária: relato de caso

Abstract

Erythromelalgia is a rare clinical syndrome characterized by heat, redness and intermittent pain in the extremities, being most frequent the bilateral development in the lower extremities. Local cooling brings relief to symptoms, while heating, physical exercises and use of stockings/socks intensify the discomfort. This condition can be primary or idiopathic or secondary to haematological disorders and vascular inflammatory and degenerative diseases. It is reported the case of an eighteen-year-old male who presented, at the early age of two, development of the symptoms of erythema ,heat and pain followed by desquamation of hands and feet, in outbreaks, with intervals 4 to 5 years long between the crises. Keywords: Erythema; Erythromelalgia; Hot temperature; Pain Resumo: Eritromelalgia é uma síndrome clínica rara, caracterizada por calor, rubor e dor intermitente nas extremidades, sendo frequente o acometimento bilateral das extremidades inferiores. O resfriamento local provoca alívio dos sintomas, enquanto aquecimento, exercícios físicos e uso de luvas e meias intensificam o desconforto. A desordem pode ser primária ou idiopática, ou secundária a distúrbios hematológicos e doenças vasculares inflamatórias e degenerativas. Relata-se o caso de um jovem de dezoito anos, com início precoce aos dois anos de idade dos sintomas de eritema, calor e dor, seguidos de descamação nas mãos e pés, em surtos, com intervalos longos de 4 a 5 anos entre as crises.

Cold and warmth intensify pain-linked sodium channel gating effects and persistent currents

“…Similar temperature-induced effects were observed for the IEM mutation Na v 1.7/L858F, which exhibited a depolarizing shift of activation V 1/2 upon cooling to 16°C ( Han et al, 2007 ). This effect is in line with reports that pain can only be alleviated by cooling for most IEM patients ( van Genderen et al, 1993 ; Albuquerque et al, 2011 ; Tang et al, 2015 ). While the body core temperature is stably held at ∼37°C, the physiological temperature of the skin is ∼33°C–34°C ( Miland and Mercer, 2006 ).…”

“…Hyperexcitability induced by increased temperature is also reflected in the phenotype of patients suffering from IEM, who experience pain attacks that can be triggered by mild warmth ( van Genderen et al, 1993 ; Albuquerque et al, 2011 ). Except for two, all known IEM mutations so far go along with hyperpolarizing shifts in the V 1/2 of activation ( Baker and Nassar, 2020 ; Choi et al, 2010 ; Eberhardt et al, 2014 ).…”

Novel treatment modality in a case of resistant erythromelalgia

“…The disease can be either primary or secondary to haematological and myeloproliferative disorders. 4 Primary erythromelalgia is an autosomal dominant disorder caused by mutations in the SCN9A gene encoding the Nav1.7 sodium channel in peripheral sensory neurons which lowers the pain threshold. 5 Vascular abnormalities also play a role in the pathophysiology of erythromelalgia.…”