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Erythromelalgia

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https://www.readbyqxmd.com/read/27926760/epidermal-nerve-fiber-quantification-in-patients-with-erythromelalgia
#1
William G Mantyh, P James B Dyck, Peter J Dyck, Janean K Engelstad, William J Litchy, Paola Sandroni, Mark D P Davis
Importance: Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given that other painful conditions of the distal extremities (ie, neuropathy related to human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to visualize pathologically decreased densities of the small nerve fibers that innervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a loss of epidermal nerve fiber density (ENFD)...
December 7, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27799815/erythromelalgia-in-the-pediatric-patient-role-of-computed-tomography-guided-lumbar-sympathetic-blockade
#2
Anjana Kundu, Mahmood Rafiq, Patrick S Warren, Joseph D Tobias
Erythromelalgia (EM) is an uncommon condition characterized by erythema, increased skin temperature, and burning pain, most frequently occurring in the lower extremities. The pain is generally very severe and treatment can be extremely challenging, especially in the pediatric and adolescent population. We report a series of three cases of primary EM in pediatric patients involving the lower extremities, refractory to medical treatment that responded favorably to computed-tomography-guided lumbar sympathetic blockade...
2016: Journal of Pain Research
https://www.readbyqxmd.com/read/27796129/-diagnosis-and-treatment-of-polycythaemia-vera-state-of-the-art
#3
Imelda Marton, Zsófia Simon, Zita Borbényi
Polycythaemia vera (PV), a condition characterized by blood hyperviscosity due to the expansion of the erythrocyte mass is the most common entity among all Philadelphia chromosome-negative myeloproliferative neoplasms. Arterial and venous thrombotic events are leading determinants of morbidity and mortality but impairment of quality of life due to vasomotor symptoms (erythromelalgia, pruritus) and disease-associated symptoms (tiredness, fatigue, pruritus, night sweats, vision problems, headache, concentration loss, abdominal discomfort, early satiety, fever, weight loss) are also present...
October 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27781142/pathological-nociceptors-in-two-patients-with-erythromelalgia-like-symptoms-and-rare-genetic-nav-1-9-variants
#4
Inge P Kleggetveit, Roland Schmidt, Barbara Namer, Hugh Salter, Tormod Helås, Martin Schmelz, Ellen Jørum
INTRODUCTION: The sodium channel Nav 1.9 is expressed in peripheral nociceptors and has recently been linked to human pain conditions, but the exact role of Nav 1.9 for human nociceptor excitability is still unclear. METHODS: C-nociceptors from two patients with late onset of erythromelalgia-like pain, signs of small fiber neuropathy, and rare genetic variants of Nav 1.9 (N1169S, I1293V) were assessed by microneurography. RESULTS: Compared with patients with comparable pain phenotypes (erythromelalgia-like pain without Nav-mutations and painful polyneuropathy), there was a tendency toward more activity-dependent slowing of conduction velocity in mechanoinsensitive C-nociceptors...
October 2016: Brain and Behavior
https://www.readbyqxmd.com/read/27699862/lumbar-sympathetic-pulsed-radiofrequency-treatment-for-primary-erythromelalgia-a-case-report
#5
Jin Young Lee, Woo Seog Sim, Ryung A Kang, Eun Kyung Lee, Jae Young Yang, Dae Yoon Kim
Erythromelalgia is often refractory and resistant to many forms of treatment. Numerous therapeutic options have been tried, but effective treatment remains elusive. The sympathetic nervous system has been involved in various painful conditions of neuropathic, vascular, and visceral origin. Sympathetic block is helpful in making a diagnosis and managing pain. We report a case of excellent pain relief after lumbar sympathetic pulsed radiofrequency treatment in a patient with primary erythromelalgia of the lower extremities...
October 4, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27684959/erythromelalgia-in-patients-with-essential-thrombocythemia-and-polycythemia-vera
#6
Jennifer L Hou, Oluwakemi Onajin, Naseema Gangat, Mark D P Davis, Alexandra P Wolanskyj
No abstract text is available yet for this article.
August 9, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27660061/small-fiber-neuropathy-in-children-two-case-reports-illustrating-the-importance-of-recognition
#7
Janneke G J Hoeijmakers, Catharina G Faber, Carien J Miedema, Ingemar S J Merkies, Johan S H Vles
Small fiber neuropathy (SFN) is a debilitating condition that often leads to pain and autonomic dysfunction. In the last few decades, SFN has been gaining more attention, particularly in adults. However, literature about SFN in children remains limited. The present article reports the cases of 2 adolescent girls diagnosed with SFN. The first patient (14 years of age) complained about painful itch and tingling in her legs, as well as dysautonomia symptoms for years. She also reported a red/purple-type discoloration of her legs aggravated by warmth and standing, compatible with erythromelalgia...
September 22, 2016: Pediatrics
https://www.readbyqxmd.com/read/27639908/-erythromelalgia-diagnosis-and-therapeutic-approach
#8
S Miranda, M Le Besnerais, V Langlois, Y Benhamou, H Lévesque
Erythromelalgia is a rare intermittent vascular acrosyndrome characterized by the combination of recurrent burning pain, warmth and redness of the extremities. It is considered in its primary form as an autosomal dominant neuropathy related to mutations of SCN9A, the encoding gene of a voltage-gated sodium channel subtype Nav1.7. Secondary erythromelalgia is associated with myeloproliferative disorders, drugs (bromocriptine, calcium channel blockers), or clinical conditions such as rheumatic diseases or viral infection...
September 14, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27598514/scn10a-mutation-in-a-patient-with-erythromelalgia-enhances-c-fiber-activity-dependent-slowing
#9
Andreas M Kist, Dagrun Sagafos, Anthony M Rush, Cristian Neacsu, Esther Eberhardt, Roland Schmidt, Lars Kristian Lunden, Kristin Ørstavik, Luisa Kaluza, Jannis Meents, Zhiping Zhang, Thomas Hedley Carr, Hugh Salter, David Malinowsky, Patrik Wollberg, Johannes Krupp, Inge Petter Kleggetveit, Martin Schmelz, Ellen Jørum, Angelika Lampert, Barbara Namer
Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia. Mutations in TTX resistant channels, such as Nav1.8 or Nav1.9, were recently connected with inherited chronic pain syndromes. Here, we investigated the effects of the p.M650K mutation in Nav1.8 in a 53 year old patient with erythromelalgia by microneurography and patch-clamp techniques. Recordings of the patient's peripheral nerve fibers showed increased activity dependent slowing (ADS) in CMi and less spontaneous firing compared to a control group of erythromelalgia patients without Nav mutations...
2016: PloS One
https://www.readbyqxmd.com/read/27512936/spinal-cord-stimulation-for-treatment-of-neuropathic-pain-associated-with-erythromelalgia
#10
Laura L Matzke, Tim J Lamer, Halena M Gazelka
OBJECTIVE: Erythromelalgia is a rare disorder associated with neuropathic pain that commonly affects the lower extremities. This pain is often refractory to multimodal treatment. Both pharmacologic management and interventional anesthetic blocks have been used with varying and often limited success. To date, little experience has been gained with the use of spinal cord stimulation in treating pain associated with erythromelalgia. CASE REPORT: We present a case of successful treatment of pain secondary to erythromelalgia with a spinal cord stimulator in an 80-year-old woman...
September 2016: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/27494156/clinical-features-and-management-of-erythromelalgia-long-term-follow-up-of-46-cases
#11
Louise K Parker, Cristina Ponte, Kevin J Howell, Voon H Ong, Christopher P Denton, Benjamin E Schreiber
OBJECTIVES: To review our clinical experience of this rare condition and describe the clinical features and response to therapy in a cohort of patients with erythromelalgia (EM), a rare condition, characterised by paroxysmal hyperthermia of the extremities with erythema, pain and intense burning. METHODS: A review was made of the electronic and paper medical records of patients with the diagnosis of EM, with a telephone interview to verify and complete clinical information relating treatment and outcome...
August 2, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27456866/erythromelalgia-as-a-manifestation-of-autonomic-nervous-system-involvement-in-multiple-sclerosis
#12
Ivan Adamec, Ines Lakoš Jukić, Mario Habek
Erythromelalgia is a rare condition characterized by burning pain, erythema and increased temperature of the hands or the feet. Its etiology is not completely understood but it is believed that the underlying cause is a peripheral vascular dysfunction that leads to simultaneous tissue hypoxia and hyperemia. We present a rare co-occurrence of erythromelalgia and multiple sclerosis in a patient with autonomic nervous system dysfunction and propose a causative interconnection.
July 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27413160/nav1-7-a1632g-mutation-from-a-family-with-inherited-erythromelalgia-enhanced-firing-of-dorsal-root-ganglia-neurons-evoked-by-thermal-stimuli
#13
Yang Yang, Jianying Huang, Malgorzata A Mis, Mark Estacion, Lawrence Macala, Palak Shah, Betsy R Schulman, Daniel B Horton, Sulayman D Dib-Hajj, Stephen G Waxman
UNLABELLED: Voltage-gated sodium channel Nav1.7 is a central player in human pain. Mutations in Nav1.7 produce several pain syndromes, including inherited erythromelalgia (IEM), a disorder in which gain-of-function mutations render dorsal root ganglia (DRG) neurons hyperexcitable. Although patients with IEM suffer from episodes of intense burning pain triggered by warmth, the effects of increased temperature on DRG neurons expressing mutant Nav1.7 channels have not been well documented...
July 13, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27411800/erythromelalgia-a-red-neuralgia
#14
Chih-Hsiang Wang, Tzu-Hsien Lai
No abstract text is available yet for this article.
March 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27402262/-pain-and-analgesia-mutations-of-voltage-gated-sodium-channels
#15
M J Eberhardt, A Leffler
Voltage-gated sodium channels (Navs) are crucial for the generation and propagation of action potentials in all excitable cells, and therefore for the function of sensory neurons as well. Preclinical research over the past 20 years identified three Nav-isoforms in sensory neurons, namely Nav1.7, Nav1.8 and Nav1.9. A specific role for the function of nociceptive neurons was postulated for each. Whereas no selective sodium channel inhibitors have been established in the clinic so far, the relevance of all three isoforms regarding the pain sensitivity in humans is currently undergoing a remarkable verification through the translation of preclinical data into clinically manifest pictures...
July 11, 2016: Der Schmerz
https://www.readbyqxmd.com/read/27245395/pain-blocking-pain-in-inherited-erythromelalgia
#16
Sarah Crunkhorn
No abstract text is available yet for this article.
June 1, 2016: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/27219910/nicotinic-acid-treatment-for-paralepistopsis-acromelalga-intoxication-assessment-using-magnetic-resonance-imaging
#17
Nobuhito Nakajima, Masayuki Ueda
CONTEXT: Paralepistopsis acromelalga, formerly known as Clitocybe acromelalga, is a rare poisonous mushroom. The mycotoxins in this mushroom cause symptoms resembling those of erythromelalgia; however, its pathogenesis remains unclear. In this report, a patient who received nicotinic acid treatment for P. acromelalga poisoning and radiological evaluation for erythromelalgia has been presented. Case detail: A 59-year-old woman was hospitalized for redness, swelling, and burning pain in her extremities that rendered difficulty in walking, and a diagnosis of P...
August 2016: Clinical Toxicology
https://www.readbyqxmd.com/read/27211852/a-novel-mutation-of-alpha-galactosidase-a-gene-causes-fabry-disease-mimicking-primary-erythromelalgia-in-a-chinese-family
#18
Wei Ge, Bin Wei, Hao Zhu, Zhigang Miao, Weimin Zhang, Cuihua Leng, Jizhen Li, Dan Zhang, Miao Sun, Xingshun Xu
PURPOSE: Fabry disease is an X-linked genetic disorder caused by the mutations of alpha-galactosidase A (GLA, MIM 300644) gene presenting with various clinical symptoms including small-fiber peripheral neuropathy and limb burning pain. Here, we reported a Chinese pedigree with the initial diagnosis of primary erythromelalgia in an autosomal dominant (AD)-inherited pattern. METHODS: Mutation analysis of SCN9A and GLA genes by direct sequencing and functional analysis of a novel mutation of GLA in cells were performed...
May 22, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27174182/sodium-channel-slow-inactivation-interferes-with-open-channel-block
#19
Martin Hampl, Esther Eberhardt, Andrias O O'Reilly, Angelika Lampert
Mutations in the voltage-gated sodium channel Nav1.7 are linked to inherited pain syndromes such as erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). PEPD mutations impair Nav1.7 fast inactivation and increase persistent currents. PEPD mutations also increase resurgent currents, which involve the voltage-dependent release of an open channel blocker. In contrast, IEM mutations, whenever tested, leave resurgent currents unchanged. Accordingly, the IEM deletion mutation L955 (ΔL955) fails to produce resurgent currents despite enhanced persistent currents, which have hitherto been considered a prerequisite for resurgent currents...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27168811/secondary-erythromelalgia-successfully-treated-with-patient-controlled-epidural-analgesia-and-interferon-%C3%AE-2b-a-case-report-and-review-of-the-literature
#20
Xingzhi Li, Yaomin Li, Yao Qu, Laijin Lu
Erythromelalgia (EM) is a debilitating neurovascular disease that is refractory to numerous treatment modalities. The present study reported the case of a 72-year-old woman diagnosed with EM secondary to polycythemia vera (PV), who was effectively treated with the use of patient-controlled epidural analgesia (PCEA) and interferon α-2b therapy. The study aimed to provide clinical information on this condition based on the findings of the present case and previously-reported cases. PCEA containing local anesthetics and dexamethasone or fentanyl resulted in nearly complete relief of symptoms...
May 2016: Experimental and Therapeutic Medicine
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