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).

‘Sirim’ (Cold) Pain as a Common Symptom in Korean Patients with Clinically Suspected Small-Fiber Neuropathy

BACKGROUND AND PURPOSE: Diagnosing small-fiber neuropathy (SFN) is challenging because there is no gold-standard test and few diagnostic tests. This study investigated the clinical symptom profile and its associations with the results of quantitative sensory testing (QST) and the quantitative sudomotor axon reflex test (QSART) as well as the quality of life (QOL) in patients with clinically suspected SFN. METHODS: This study involved 63 patients with clinically suspected length-dependent SFN. Assessments were performed using QST, QSART, SFN Symptoms Inventory Questionnaire, Neuropathic Pain Symptom Inventory, ‘Sirim’ frequency and ‘Sirim’ (cold) pain severity, and 36-item Short-Form Health Survey. Multiple logistic and linear regression analyses were performed to predict risk factors for QST or QSART abnormalities and QOL, respectively. RESULTS: ‘Sirim’ and ‘Sirim’ pain was the most-common (84%) and the most-severe complaint (mean score of 6.3 on a numerical rating scale ranging from 0 to 10) in patients with clinically suspected SFN. The findings of QST [cold detection threshold (CDT)] and QSART were abnormal in 71% (n=45/57) and 62% (n=39/56) of the patients, respectively. An abnormal CDT was correlated with more-severe stabbing pain (odds ratio=2.23, 95% CI=1.02–4.87, p=0.045). Restless-leg symptoms (β=−7.077) and pressure-evoked pain (β=−5.034) were independent predictors of the physical aspects of QOL. CONCLUSIONS: ‘Sirim’ pain, similar to cold pain, should be considered a major neuropathic pain in SFN. Among pain characteristics, stabbing pain of a spontaneous paroxysmal nature may be more pronounced in the setting of dysfunctional Aδ fibers with functional autonomic C fibers.

The Correlation of the Grading of Chemotherapy-Induced Peripheral Neurotoxicity (CIPN) Using the Total Neuropathy Score-Reduced and Various Electrophysiological Parameters in Breast Cancer Patients

BACKGROUND: The accurate grading of chemotherapy-induced peripheral neuropathy (CIPN) represents an unsolved issue. This study evaluated usefulness of the reduced version of Total Neuropathy Score TNS (TNSr) and the correlation of this scale with various electrophysiological parameters. METHODS: Neuropathic symptoms and quality of life were assessed using the neuropathy symptom scale and the Functional Assessment of Cancer Therapy/Gynecologic Oncology Group Neurotoxicity (FACT/GOG-NTX) scale. A detailed neurologic examination, nerve conduction study (NCS), and the current perception threshold (CPT) were also performed. The TNSr score was calculated by a single examiner. We divided the patients with small fiber neuropathy and large fiber neuropathy and compared each variable between groups. Also, we analyzed correlations of the TNSr score with various parameters (NCS data, CPT score, and neuropathy symptom scales). RESULTS: Of 30 recruited patients, 16 (53%) had large fiber neuropathy, and the other 14 (47%) had small fiber neuropathy. Patients with large fiber neuropathy had a lower sural sensory nerve action potential (SNAP) (p=0.000), lower peroneal compound muscle action potential (CMAP) (p=0.002), higher National Cancer Institute-Common Terminology Criteria for Adverse Events (NCI-CTCAE, NTC) sensory grade (p=0.029) and higher TNSr score (p=0.000). There were no differences in any domain of the FACT/G, neuropathy symptom scale, or FACT/GOG-NTX between the two groups. The TNSr score was most significantly correlated with the sural SNAP (p=0.000), NTC-sensory grade (p=0.000), neuropathy symptom scale (p=0.001), FACT/GOG-NTX score (p=0.009), and pin score (p=0.002). CONCLUSIONS: The TNSr score is correlated with sensory peripheral neurotoxicity and also present the symptom severity in CIPN.

A case of treatment-induced neuropathy in an adolescent with type 1 diabetes

Treatment-induced neuropathy (TIN) in diabetes is an acute and painful yet completely reversible small fiber neuropathy precipitated by a rapid improvement in glycemic control. TIN is rare in children. A 16-year-old girl developed symmetrical painful neuropathy of the foot, autonomic neuropathy, and retinopathy 5 weeks after the diagnosis of type 1 diabetes. All causative workups were negative except for a drop-in hemoglobin A(1c) (HbA(1c)) from 17.4% to 7%, which fit with a diagnosis of TIN. Following symptomatic management, her neuropathy and retinopathy completely resolved in 2 months. Currently, she is 18 years old and doing well (HbA(1c), 7.4%) without any recurrence of TIN. TIN should be suspected in any child presenting with recent-onset type 1 diabetes and acute onset neuropathy. Our case represents an unreported scenario of the rapid progression in TIN. Awareness among clinicians about this rare but completely reversible condition is necessary to ensure proper management and adherence to glycemic control.

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.

The Availability of Quantitative Assessment of Pain Perception in Patients With Diabetic Polyneuropathy

OBJECTIVE: To evaluate the usefulness of the quantitative assessment of pain perception (QAPP) in diabetic polyneuropathy (DPN) patients. METHODS: Thirty-two subjects with DPN were enrolled in this study. The subjects’ pain perception was assessed quantitatively. Current perception threshold (CPT) and pain equivalent current (PEC) were recorded. All patients were tested with a nerve conduction study (NCS) for evaluation of DPN and pain-related evoked potential (PREP) for evaluation of small fiber neuropathy (SFN) on bilateral upper and lower limbs. All patients were asked to participate in tests such as visual analogue scale (VAS) and SF-36 Health Survey Version 2 to evaluate their subjective pain and quality of life, respectively. RESULTS: The PEC of QAPP showed significant correlations with VAS (p=0.002) and physical function surveyed with SF-36 Health Survey Version 2 (p=0.035). The results of QAPP had no correlation with NCS, but there was a significant relationship between the CPT of QAPP and PREP (p=0.003). CONCLUSION: The QAPP may be useful not only in providing objective evaluations of subjective pain in patients with DPN but also in the assessment of diabetic SFN.

Small Fiber Neuropathy and Postural Orthostatic Tachycardia Syndrome after Human Papillomavirus Vaccination

We describe a 44-year-old woman with paresthesia, fatigue, and palpitation, 10 days after human papillomavirus (HPV) vaccination. The quantitative sensory test showed abnormal detection threshold in her foot. Tilt test result indicated postural orthostatic tachycardia syndrome. Symptoms were improved after immunomodulating therapy, pain control drug, and oral beta blocker medication. This is first case report for small fiber neuropathy and autonomic dysfunction after HPV vaccination in Korea.

An Atypical Erythromelalgia on the Chest

No abstract available.

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.

Rapid, Objective and Non-invasive Diagnosis of Sudomotor Dysfunction in Patients With Lower Extremity Dysesthesia: A Cross-Sectional Study

OBJECTIVE: To determine whether patients with lumbosacral (LS) radiculopathy and peripheral polyneuropathy (PPNP) exhibit sudomotor abnormalities and whether SUDOSCAN (Impeto Medical, Paris, France) can complement nerve conduction study (NCS) and electromyography (EMG). METHODS: Outpatients with lower extremity dysesthesia underwent electrophysiologic studies and SUDOSCAN. They were classified as normal (group A), LS radiculopathy (group B), or PPNP (group C). Pain severity was measured by the Michigan Neuropathy Screening Instrument (MNSI) and visual analogue scale (VAS). Demographic features, electrochemical skin conductance (ESC) values on hands and feet, and SUDOSCAN-risk scores were analyzed. RESULTS: There were no statistical differences in MNSI and VAS among the three groups. Feet-ESC and hands-ESC values in group C were lower than group A and B. SUDOSCAN-risk score in group B and C was higher than group A. With a cut-off at 48 microSiemens of feet-ESC, PPNP was detected with 57.1% sensitivity and 94.2% specificity (area under the curve [AUC]=0.780; 95% confidence interval [CI], 0646–0.915). With a SUDOSCAN-risk score cut-off at 29%, NCS and EMG abnormalities related to LS radiculopathy and PPNP were detected with 64.1% sensitivity and 84.2% specificity (AUC=0.750; 95% CI, 0.674–0.886). CONCLUSION: SUDOSCAN can discriminate outpatients with abnormal electrophysiological findings and sudomotor dysfunction. This technology may be a complementary tool to NCS and EMG in outpatients with lower extremity dysesthesia.

Acute Painful Neuropathy Induced by Rapid Correction of Serum Glucose Levels in a Diabetic Patient

Treatment-induced neuropathy in diabetes (also referred to as insulin neuritis) is considered a rare iatrogenic small fiber neuropathy caused by an abrupt improvement in glycemic control in the setting of chronic hyperglycemia. The prevalence and risk factors are unknown. It presents with neuropathic pain, symptoms of autonomic dysfunction, or a combination of both. We present a case that illustrates the range of presentations of the acute treatment-induced small fiber neuropathy in a patient with diabetes mellitus.

Skin Biopsy: Emerging Method for Small Nerve Fiber Evaluation / 대한임상신경생리학회지

Skin biopsy with investigation of small nerve fiber in human epidermis and dermis has been proven to be a useful method for demonstration of small fiber neuropathy. Quantification of intraepidermal nerve fiber density using anti-Protein Gene Product 9.5 (PGP 9.5) antibody is standardized method to diagnose the small fiber neuropathy. Skin biopsy method also makes it possible to differentiate the type of nerve fibers by using different antibodies. Quantification of dermal structures with different type of nerve fibers could be used to invest pathophysiologic mechanism of diseased state.

Toxicological Profiles of Poisonous, Edible, and Medicinal Mushrooms

Mushrooms are a recognized component of the human diet, with versatile medicinal properties. Some mushrooms are popular worldwide for their nutritional and therapeutic properties. However, some species are dangerous because they cause toxicity. There are many reports explaining the medicinal and/or toxic effects of these fungal species. Cases of serious human poisoning generally caused by the improper identification of toxic mushroom species are reported every year. Different substances responsible for the fatal signs and symptoms of mushroom toxicity have been identified from various poisonous mushrooms. Toxicity studies of mushroom species have demonstrated that mushroom poisoning can cause adverse effects such as liver failure, bradycardia, chest pain, seizures, gastroenteritis, intestinal fibrosis, renal failure, erythromelalgia, and rhabdomyolysis. Correct categorization and better understanding are essential for the safe and healthy consumption of mushrooms as functional foods as well as for their medicinal use.

Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease

BACKGROUND AND PURPOSE: The etiology of small fiber neuropathy (SFN) often remains unclear. Since SFN may be the only symptom of late-onset Fabry disease, it may be underdiagnosed in patients with idiopathic polyneuropathy. We aimed to uncover the etiological causes of seemingly idiopathic SFN by applying a focused investigatory procedure, to describe the clinical phenotype of true idiopathic SFN, and to elucidate the possible prevalence of late-onset Fabry disease in these patients. METHODS: Forty-seven adults younger than 60 years with seemingly idiopathic pure or predominantly small fiber sensory neuropathy underwent a standardized focused etiological and clinical investigation. The patients deemed to have true idiopathic SFN underwent genetic analysis of the alpha-galactosidase A gene (GLA) that encodes the enzyme alpha-galactosidase A (Fabry disease). RESULTS: The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLA were detected in 6 of the 29 patients with true idiopathic SFN, but this rate did not differ significantly from that in healthy controls (n=203). None of the patients with genetic alterations in GLA had significant biochemical abnormalities simultaneously in blood, urine, and skin tissue. CONCLUSIONS: A focused investigation may aid in uncovering further etiological factors in patients with seemingly idiopathic SFN, such as impaired glucose tolerance. However, idiopathic SFN in young to middle-aged Swedish patients does not seem to be due to late-onset Fabry disease.

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.

Síndromes reumáticos paraneoplásicos / Paraneoplastic rheumatic syndromes

Una gran variedad de manifestaciones reumáticas han sido asociadas con las neoplasias. Se pueden deber a invasión tumoral directa a los huesos, articulaciones y tejidos blandos, y también aparecer por efectos a distancia del tumor mediados por factores humorales (síndromes paraneoplásicos). Entre los síndromes paraneoplásicos reumáticos los más comunes son la osteoartropatía hipertrófica, la poliartritis carcinomatosa, la dermatomiositis y las vasculitis. Los síndromes paraneoplásicos pueden anteceder al tumor, en no más de dos años, aparecer simultáneamente con él o luego del diagnóstico. Su curso clínico habitualmente es paralelo al del tumor. Por ende, la curación de la neoplasia usualmente, aunque no en todos los casos, resulta en la resolución del síndrome paraneoplásico. En este artículo se presenta una revisión sobre los síndromes paraneoplásicos reumáticos.

A wide variety of rheumatic manifestations has been associated with malignancies. They may result from direct invasion of bone, joints or soft tissue by the tumor, and may also occur by distant effects of the tumor mediated by humoral factors (paraneoplastic syndromes). Among the paraneoplastic rheumatic syndromes, hyperthrophic ostearthropaty, carcinomatous polyarthritis, dermatomyositis and vasculitis are the most frequently diagnosed. Paraneoplastic syndromes may precede the tumor, by no longer than two years, appear simultaneously with it or follow its diagnosis. The clinical course usually is parallel to that of the tumor. Therefore, cure of the underlying malignancy often, although not invariably, results in regression of the paraneoplastic syndrome. In this article a review is presented on paraneoplastic rheumatic syndromes.

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.