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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
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
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
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
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
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
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
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
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
Chih-Hsiang Wang, Tzu-Hsien Lai
No abstract text is available yet for this article.
March 2016: Acta Neurologica Taiwanica
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
Sarah Crunkhorn
No abstract text is available yet for this article.
June 1, 2016: Nature Reviews. Drug Discovery
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
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
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
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
Lishuang Cao, Aoibhinn McDonnell, Anja Nitzsche, Aristos Alexandrou, Pierre-Philippe Saintot, Alexandre J C Loucif, Adam R Brown, Gareth Young, Malgorzata Mis, Andrew Randall, Stephen G Waxman, Philip Stanley, Simon Kirby, Sanela Tarabar, Alex Gutteridge, Richard Butt, Ruth M McKernan, Paul Whiting, Zahid Ali, James Bilsland, Edward B Stevens
In common with other chronic pain conditions, there is an unmet clinical need in the treatment of inherited erythromelalgia (IEM). TheSCN9Agene encoding the sodium channel Nav1.7 expressed in the peripheral nervous system plays a critical role in IEM. A gain-of-function mutation in this sodium channel leads to aberrant sensory neuronal activity and extreme pain, particularly in response to heat. Five patients with IEM were treated with a new potent and selective compound that blocked the Nav1.7 sodium channel resulting in a decrease in heat-induced pain in most of the patients...
April 20, 2016: Science Translational Medicine
Paul Geha, Yang Yang, Mark Estacion, Betsy R Schulman, Hajime Tokuno, A Vania Apkarian, Sulayman D Dib-Hajj, Stephen G Waxman
IMPORTANCE: There is a need for more effective pharmacotherapy for chronic pain, including pain in inherited erythromelalgia (IEM) in which gain-of-function mutations of sodium channel NaV1.7 make dorsal root ganglion (DRG) neurons hyperexcitable. OBJECTIVE: To determine whether pain in IEM can be attenuated via pharmacotherapy guided by genomic analysis and functional profiling. DESIGN, SETTING, AND PARTICIPANTS: Pain in 2 patients with IEM due to the NaV1...
June 1, 2016: JAMA Neurology
Louise K Andersen, Mark D P Davis
Many skin and skin-related diseases affect the sexes unequally, with attendant implications for public health and resource allocation. To evaluate better the incidence of skin and skin-related diseases affecting males vs. females, we reviewed published population-based epidemiology studies of skin disorders performed utilizing Rochester Epidemiology Project data. Females had a higher incidence of the following diseases: connective tissue diseases (scleroderma, morphea, dermatomyositis, primary Sjögren syndrome, systemic lupus erythematosus [not in all studies]), pityriasis rosea, herpes progenitalis, condyloma acuminatum, hidradenitis suppurativa, herpes zoster (except in children), erythromelalgia, venous stasis syndrome, and venous ulcers...
September 2016: International Journal of Dermatology
Aoibhinn McDonnell, Betsy Schulman, Zahid Ali, Sulayman D Dib-Hajj, Fiona Brock, Sonia Cobain, Tina Mainka, Jan Vollert, Sanela Tarabar, Stephen G Waxman
Inherited erythromelalgia, the first human pain syndrome linked to voltage-gated sodium channels, is widely regarded as a genetic model of human pain. Because inherited erythromelalgia was linked to gain-of-function changes of sodium channel Na(v)1.7 only a decade ago, the literature has mainly consisted of reports of genetic and/or clinical characterization of individual patients. This paper describes the pattern of pain, natural history, somatosensory profile, psychosocial status and olfactory testing of 13 subjects with primary inherited erythromelalgia with mutations of SCN9A, the gene encoding Na(v)1...
April 2016: Brain: a Journal of Neurology
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