Endoscopic lumbar sympathectomy as a treatment option for primary erythromelalgia - case report and review / Simpatectomia lombar endoscópica como escolha de tratamento para eritromelalgia primária - relato de caso e revisão

Abstract Erythromelalgia is a rare disease, involving pain, edema, redness, and hyperthermia in the limbs. It is extremely refractory to drugs, has no defined treatment, and causes psychological comorbidities in the patient. We describe a case of erythromelalgia involving a 17-year-old boy who had been suffering from the disease for almost 4 years prior to finding an effective treatment. A bilateral endoscopic lumbar sympathectomy was performed, limited to L2 and L3 resections. Four weeks after the procedure, the patient's symptoms were significantly mitigated and at 8 months follow-up he remained almost asymptomatic. Endoscopic lumbar sympathectomy was an effective treatment for primary erythromelalgia in this teenager, with exceptional reduction of his symptoms.

Resumo Eritromelalgia é uma doença rara caracterizada por dor, edema, eritema e hipertermia nos membros. É extremamente refratária a medicamentos e não tem um tratamento definido, causando comorbidades psicológicas para o paciente. Descrevemos o caso de um menino de 17 anos que possuía eritromelalgia há quase 4 anos antes de ser submetido a um tratamento efetivo. Foi realizada simpatectomia lombar endoscópica bilateral limitada à ressecção dos gânglios L2 e L3. Após 4 semanas do procedimento, o paciente teve diminuição significativa dos seus sintomas e, com 8 meses de seguimento, permanece praticamente assintomático. A simpatectomia lombar endoscópica foi um tratamento eficaz para eritromelalgia primária em um adolescente, com redução excepcional dos seus sintomas.

Eritromelalgia. Informe de un caso / Erythromelalgia. Case Report

Resumen La eritromelalgia es una enfermedad rara, crónica, poco conocida, de difícil diagnóstico y tratamiento. Caracterizada por enrojecimiento, calor, dolor intenso y ardor en la parte distal de las extremidades. Afecta fundamentalmente manos, pies, nariz y orejas. El rubor, el dolor y el calor de las extremidades aumentan al exponerse a altas temperaturas, así como después de realizar ejercicio. Los síntomas suelen aliviarse mediante la inmersión de la extremidad afectada en agua fría. Se presenta un caso de una mujer de 33 años de edad, blanca, con afectación predominantemente en las manos. A través del interrogatorio minucioso y la realización de los exámenes complementarios realizados se concluyó que la variante etiológica que presentó la paciente era una eritromelalgia primaria o idiopática. Se impuso tratamiento con aspirina y nifedipino. La evolución clínica de la paciente fue favorable (AU).

ASBTRACT Erythromelalgia is a rare, chronic, little known disease, of difficult diagnosis and treatment. It is characterized by redness, heat, and intense pain and burning in the distal part of the extremities. It mainly affects hands, feet, nose and ears. The flushing, pain and warmth of the extremities increase when exposed to high temperatures as well as after exercise. The symptoms are usually relieved by immersing the affected limb in cold water. The authors present the case of a white, 33-years-old woman, with predominantly involved hand. Through a detailed interview and complementary tests they concluded that the etiological variant presented by the patient was a primary or idiopathic erythromelalgia. Treatment with aspirin and nifedipine was prescribed; the clinical progress of the patient was successful (AU).

Pain management in children with erythromelalgia: case report / Tratamento da dor em criança com eritromelalgia: relato de caso

Abstract Erythromelalgia is a neuropathic pain syndrome due to an autosomal dominant gene, characterized by erythema, increased skin temperature and burning pain in hands and feet, whose treatment is often unsatisfactory. In this paper, we report a case of a 9 years old female patient whose first episode of burning pain, erythema and edema of the hands, without triggering factors, had instant relief after immersion in cold water. She presented with systemic arterial hypertension and had seizures. The patient was treated with gabapentin (150 mg.8 h−1) and amitriptyline (12.5 mg) orally, intravenous lidocaine infusion (120 mg), without relieving pain complaints. Due to the lack of response to the proposed treatment, it was decided to gradually reduce these medications and to introduce carbamazepine (200 mg) orally and, after 4 days of treatment, there was complete relief of the manifestations.

Resumo Eritromelalgia é uma síndrome dolorosa neuropática decorrente de gene autossômico dominante, caracterizada por eritema, aumento da temperatura da pele e dor em queimação, em mãos e pés, e o tratamento é muitas vezes insatisfatório. Neste caso, está o relato de uma paciente do sexo feminino, com nove anos e primeiro episódio de dor em queimação, eritema e edema em mãos, sem fatores desencadeantes, com alívio instantâneo após imersão em água fria. Apresentava hipertensão arterial sistêmica e teve crises convulsivas. Foi tratada com gabapentina (150 mg.8 h-1) e amitriptilina (12,5 mg) via oral, lidocaína (120 mg) venosa em infusão, sem alívio das queixas álgicas. Devido à ausência de resposta ao tratamento proposto, decidiu-se redução gradativa dessas medicações e introdução de carbamazepina (200 mg) via oral e após quatro dias de tratamento houve alívio completo das manifestações.

Erythromelalgia: a cutaneous manifestation of neuropathy?

Abstract: The low prevalence of erythromelalgia, classified as an orphan disease, poses diagnostic and therapeutic difficulties. The aim of this review is to be an update of the specialized bibliography. Erythromelalgia is an infrequent episodic acrosyndrome affecting mainly both lower limbs symmetrically with the classic triad of erythema, warmth and burning pain. Primary erythromelalgia is an autosomal dominant inherited disorder, while secondary is associated with myeloproliferative diseases, among others. In its etiopathogenesis, there are neural and vascular abnormalities that can be combined. The diagnosis is based on exhaustive clinical history and physical examination. Complications are due to changes in the skin barrier function, ischemia and compromise of cutaneous nerves. Because of the complexity of its pathogenesis, erythromelalgia should always be included in the differential diagnosis of conditions that cause chronic pain and/or peripheral edema. The prevention of crisis is based on a strict control of triggers and promotion of preventive measures. Since there is no specific and effective treatment, control should focus on the underlying disease. However, there are numerous topical and systemic therapies that patients can benefit from.

Coexistence of Erythromelalgia and Raynaud's Phenomenon in a Systemic Lupus Erythematosus Patient

Erythromelalgia (EM) is an uncommon disorder characterized by redness, heat, and painful extremities with intense burning sensation. Attacks of EM may be worsened by limb warming, exercise, or dependency of the affected extremity. Although the coexistence of EM and Raynaud's phenomenon (RP) may appear to be opposites in symptomatology and clinical presentation, recent studies provide an explanation based on a dysfunction of the regulation of vasomotor tone. Here, we report a case of EM in a patient with RP.

Clinical analysis of of 8 cases of erythromelalgia / 中国生化药物杂志

Objective To investigate the etiology, pathogenesis and treatment of erythromelalgia.MethodsRetrospective analysis of clinical features and respective treatment options of 8 cases of erythromelalgia patients in Ruijin Hospital.ResultsThe major clinical characteristics of EM cases included burning, sharp, tingling and/or stinging pain in toes, soles and/or dorsum of feet, increased temperature, erythema and swelling.One case reported burning pain in both fingers and feet.These symptoms were more severe during the night, walking, standing, exercising and when the individual was near a heater.Patients could relieve their pains by rest, using cold packs, walking on cold floors or immersing feet in cold water.Combined treatment, topical therapies and management of underlying disorders were necessary for erythromelalgia.ConclusionErythromelalgia is a rare cutaneous vascular disease with characteristics of recurrent redness, burning pain, and warmth of the extremities which could be induced by heat and exercise.Combined treatment, topical therapies and management of underlying disorders were necessary for erythromelalgia.

Acrosíndromes / Acrosyndromes

En la medicina convencional se denominan acrosíndromes a todas las enfermedades que afectan la microcirculación cutánea; sin embargo es de suma importancia diferenciarlos entre ellos, puesto que aunque comparten características clínicas similares, su causa, pronóstico y tratamiento es diferente. En este artículo se describen las enfermedades más representativas de este grupo de entidades, tales como fenómeno de Raynaud, acrocianosis, livedo reticularis, eritromelalgia, eritema pernio y enfermedad de Buerger; haciendo una descripción detallada de cada una, para que el lector consiga hacer un adecuado diagnóstico diferencial y logre enfocar correctamente los pacientes en la práctica médica.

In conventional medicine, are called acrosyndromes all diseases that affect the skin microcirculation, however it is important to differentiate between them, because although they share similar clinical characteristics; cause, prognosis and treatment is different, and the distinction between them, will achieve impact in the quality of life of patients. Throughout this article, the most representative diseases in this group are described as: Raynaud's phenomenon, acrocyanosis, livedo reticularis, erythromelalgia, erythema pernio and Buerger disease; doing a detailed description of each, emphasizing what makes them unique, thus the reader gets to make an appropriate differential diagnosis and will approach properly the patients with these conditions.

Eritromelalgia: apresentação clínica incomum / Erythromelalgia: an unusual clinical presentation

Eritromelalgia é uma doença rara caracterizada pela tríade: eritema, calor e dor em queimação. Pode envolver os pés, as mãos e, menos comumente, o segmento cefálico. Geralmente é bilateral, entretanto, pode manifestar-se de forma unilateral. O resfriamento das áreas afetadas pode resultar em alívio dos sintomas. Relatamos um caso de eritromelalgia no pavilhão auricular direito, uma localização não habitual.

Hiperhidrosis focal primaria asociada a eritromelalgia primaria / Primary focal hyperhidrosis associated to primary erythromelalgia

Paciente femenina de 30 años de edad que consulta por un cuadro de hiperhidrosis, asociado a sensación de calor desde su niñez. Sufre crisis de calor en cara, cuello, parte superior del tronco y los cuatro miembros, que la inducen a transpirar. Durante estos episodios nota sensación de calor, dolor y con aparición de rubor en manos y pies. Los síntomas ceden con aplicación de frío. Estos síntomas que presenta desde su adolescencia, dificultan el sueño, sus tareas habituales y el trato social. Sus antecedentes familiares respecto del mismo cuadro son floridos. Los estudios hematológicos, inmunológicos, la electromiografía y el ecodoppler de miembros superiores, resultaron dentro de límites normales. En el video sobre capilaroscopía periungueal de manos, se constata cambios micro vasculares inespecíficos. En la prueba de provocación mediante aumento de la temperatura, se obtiene resultado positivo a 39°C para miembros superiores. La paciente presenta signo-sintomatología compatible con hiperhidrosis focal primaria. Los episodios de calor, rubor y dolor de los cuatro miembros, que ceden a la exposición al frío fueron interpretados como eritromelalgia, en base a la clínica y los antecedentes familiares. Para la hiperhidrosis se indica solución de cloruro de aluminio hexa-hidratado al 20%, de aplicación tópica y para la eritromelalgia citrato de magnesio en grageas 528 mg, de dos a cuatro por día. Según la bibliografía por nosotros revisada, la asociación de hiperhidrosis focal primaria y eritromelalgia primaria familiar, no se ha registrado en la literatura.

Female patient, aged 30 years-old, attending a medical consultation with hyperhidrosis associated with episodes of warmth and sweating since childhood, located in face, neck, upper thorax and extremities. These episodes are accompanied by heat, pain and reddening in hands and feet. The symptoms disappear to cold exposure. These symptoms altered sleep, daily activities and social life. A positive family history with similar clinical characteristics was obtained. Hematological and immunological studies, as well as upper limbs electromyography and ecodoppler are within normal parameters. Unspecific microvascular alterations were observed with finger-periungueal video capillaroscopy. A provoking test yielded positive results when rising temperature to 39°C in upper limbs. The patient symptoms are compatible with focal primary hyperhidrosis. Heat, reddening and pain in the upper and low extremities responding to cold exposure and the positive family history led us to diagnose erythromelalgia. The hyperhidrosis treatment consisted of a topical application of 20% hexhydrate aluminum chloride. For erythromelalgia treatment 528 mg magnesium citrate pills, 2-4 daily were administered. Literature review to find out association of primary focal hyperhidrosis with primary familiar erythromelalgia was negative.

Crohn’s disease complicated with erythromelalgia:report of 1 case and literature review / 临床儿科杂志

Objectives To explore the clinical features, diagnosis and treatment of Crohn’s disease complicated by erythromelalgia (EM) in a pediatric case. Methods The clinical manifestation, results of laboratory testing and endoscopy, mutational analysis of the SCN9A gene, and the follow-up record were collected and analyzed based on review of literature to a thirteen-year-old girl with Crohn’s disease complicated by erythromelalgia. Results The patient experienced symptoms of anorexia, fatigue, diarrhea, dark red and swelling skin, increased skin temperature and burning pain in her both lower extremities during the course of disease. The endoscopic ifndings included multiple ulcerations and polypoid protrusion lesion in colon, and the pathological examination showed the local abscess formation in colonic mucosa. The mutation in SCN9A gene of the child was excluded by gene analysis. The symptoms were gradually ameliorated after treatment using prednisone and mesalazine combined with dipyridamole and low-molecular-weight heparin calcium. Conclusions Crohn’s disease complicated by erythromelalgia is rare. The pathogenesis may relate to immune factors, thrombocytosis, and hyper-coagulable states, etc. The combination of glucocorticoids, 5-aminosalicylic acid and anticoagulants may lead to a better therapeutic effect.

Secondary Erythromelalgia: A Case Report

Erythromelalgia is a rare neurovascular pain syndrome characterized by a triad of redness, increased temperature, and burning pain primarily in the extremities. Erythromelalgia can present as a primary or secondary form, and secondary erythromelalgia associated with a myeloproliferative disease such as essential thrombocythemia often responds dramatically to aspirin therapy, as in the present case. Herein, we describe a typical case of a 48-year-old woman with secondary erythromelalgia linked to essential thrombocythemia in the unilateral hand. As this case demonstrates, detecting and visualizing the hyperthermal area through infrared thermography of an erythromelalgic patient can assist in diagnosing the patient, assessing the therapeutic results, and understanding the disease course of erythromelalgia.

Adenoma metanéfrico del riñon asociado a policitemia y eritromelalgia: caso clínico / Metanephric adenoma of the kidney associated with polycythemia and erythromelalgia: Report of one case

Background: We report a 21-year-old male, presenting with erythromelalgia and polycythe-mia. A solid renal mass of the lower pole of the right kidney was discovered. The patient was subjected to a right open partial nephrectomy. The pathological study of the surgical specimen showed a metanephric adenoma of the kidney. The patient had an uneventful postoperative evolution. Currently the patient is in good health without evidence of recurrence of the tumor and normal hematological parameters.

Erythromelalgia and Livedo Reticularis in a Patient with Essential Thrombocythemia, Acquired von Willebrand Disease, and Elevated Anti-Phospholipid Antibodies

Essential thrombocythemia (ET) is a clonal stem cell disease characterized by isolated thrombocytosis and thrombohemorrhagic complications. We describe an unusual case of ET primarly presenting with skin symptoms including erythromelalgia and livedo reticularis (racemosa-type). Persistent thrombocytosis, bone marrow findings, JAK2 gene mutation, and markedly decreased ristocetin-cofactor activity were consistent with the diagnosis of ET and acquired von Willebrand disease. Elevated antiphospholipid antibodies were also found. The present case highlights the complex nature and diagnostic challenge of myeloproliferative disorders such as ET, which can involve multiple organ systems and often shows a variety of microvascular complications, coagulation anomalies, and autoimmune phenomena.

Eritromelalgia primária: relato de caso / Primary erythromelalgia: case report

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.

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.

Sympathetic Block for Treating Primary Erythromelalgia

Primary erythromelalgia is a rare condition that's characterized by erythema, an increased skin temperature and burning pain in the extremities. The pain is often very severe, and treating erythromelalgia is frustrating and difficult. We report here on the case of a 12-year old girl with primary erythromelalgia in both lower extremities. The pain was refractory to medical treatment, but a bilateral sympathetic block with lidocaine and triamcinolone resulted in relief from the pain. Our experience with this disease demonstrates that sympathetic blocks are effective in improving the symptoms and they may be attempted on erythromelalgia patients who do not respond to other treatments, including medication and epidural blocks.

Eythromelalgia Mimicking Lower Leg Pain of Spinal Origin : Case Report / 대한정형외과학회잡지

Erythromelalgia is a rare condition, of uncertain etiology, characterized by episodic erythema, intense burning pain and warmth of the hands and/or feet. We present here a case of erythromelalgia that was almost mistaken for lower leg pain of spinal origin. The diagnosis is based on a thorough history and physical exam during a painful episode along with diagnostic test to exclude other causes. A 69-year-old man developed recurrent attacks of redness, swelling and burning painful sensations of both feet. His symptom was aggravation of pain with warm water immersion. His symptom improved by antidepressant and steroid. To be learned an important general lesson is to pay attention to performing extensive diagnostic and therapeutic procedures. It should be appreciated that discontinuation of medication can also be used as a simple diagnostic test for clinical syndromes, such as erythermalgia.

Two Cases of Secondary Erythromelalgia Associated with Essential Hypertension / 대한피부과학회지

Erythromelalgia is a rare clinical syndrome characterized by redness and painful episodes of the feet and hands, which is triggered by heat or exercise. A 22-year-old male soldier presented with paroxysmal redness of the both feet associated with pain and tenderness upon heat stimulation, including wearing military shoes for periods of over 30 minutes. He had been treated of essential hypertension with dichlorothiazide and had a familial medical history of essential hypertension with his mother and brother. A 21-year-old male soldier also presented with paroxysmal redness of both feet and hands associated with pain and tenderness upon heat stimulation. By searching for the underlying or combined diseases of the erythromelalgia, he was also found to have essential hypertension. Herein, we report two cases of secondary erythromelalgia associated with essential hypertension.

A Case of Erythromelalgia in Adolescent with Diabetes Mellitus / 대한소아내분비학회지

Erythromelalgia is a rare clinical condition of unknown etiology characterized by severe burning pain in the distal limbs. It can be accompanied by pronounced erythema and increased skin temperature precipitated by heat or activity and can be improved by cooling the affected part. It can be divided into two categories, primary, which begins spontaneously at any age, and secondary, which is infrequently associated with diabetes mellitus. However, the significance of this association is little known. We report a rare case of intractable erythromelalgia in an adolescent with diabetes mellitus.

Hypertension and erythromelalgia as prominent manifestations of mercury intoxication / 北京大学学报(医学版)

SUMMARY Mercury intoxication is a rare cause of severe hypertension. A case of mercury intoxication presented with severe hypertension and erythromelalgia was reported. A 10-year-and-5-month-old girl presented with recurrent rash and painful hands for 2 months, with seizure attack and episodic loss of consciousness for one hand half months. The girl was found to have red painful hands, a blood pressure 170/120 mm Hg(1 mm Hg=0.133 kPa), tachycardia and hypokalemia (2.83-3.25 mmol/L, reference value 3.5-5.5 mmol/L). An extensive investigation ensued. Elevated renin-angiotensin and aldosterone were demonstrated in plasma. Cranial MRI T2 weighed images showed widespread white matter signal abnormalities, which particularly involved parietal, occipital and frontal lobes. With hypertension controlled, white matter signal abnormalities weakened. Other symptoms included insomnia, nausea and paroxysmal abdominal pain. The girl was found to have a raised concentration of mercury in urine (0.171 mg/L, reference value

Gene Mapping and Mutation Identification in Patients with Primary Erythromelalgia / 中华皮肤科杂志

Objective To map the specific gene responsible for primary erythromelalgia and identify gene mutations in a Chinese family and one sporadic patient with primary erythromelalgia. Methods Geno-mic DNA was extracted from peripheral lymphocytes of the family members of the pedigree and the sporadic patient. Scanning the genes on chromosome 2q that had been identified was performed by using 6 microsatellite markers for the family members with primary erythromelalgia. Then linkage analysis and haplotype analysis were conducted. All exons of SCN9A gene were analyzed by PCR-DNA sequencing. The mutation identification was also confirmed by restriction fragment length polymorphism(RFLP). Results A maximum 2-point LOD score of 2.11 was found at a recombination fraction (? = 0.00) with markers D2S2370 and D2S2330. Recombination events were detected by markers D2S1353 and D2S2345 in this family by the haplotype analysis. There were two missense heterozygous point mutations in the 15th exon of SCN9A gene both in the family(T2573A) and the sporadic patient(T2543C), leading to the substitution of the amino acid leucine to histidine(L858H) and isoleucine to threonine(I848T), respectively. The above mutations were not found in 400 normal alleles. Conclusion It is proved that primary erythromelalgia is caused by mutations in SCN9A gene.