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Erythromelalgia

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https://www.readbyqxmd.com/read/29121832/how-a-simple-ankle-sprain-turned-into-neuropathic-pain-complex-reflex-sympathetic-dystrophy-versus-erythromelalgia
#1
Ann Regina Lurati
A 36-year-old woman sustained a Grade 2 ankle sprain at work. Two days after the injury, the ankle and foot became red and she complained of "intense burning pain." First diagnosed with complex reflex sympathetic dystrophy, the employee was prescribed medications that provided some pain relief; a subsequent temporary nerve block provided additional relief. However, the symptoms returned and she was treated unsuccessfully with surgical sympathectomy. The employee was referred to a neurologist and diagnosed with primary erythromelalgia, a rare pain disorder that can be mistaken as complex reflex sympathetic dystrophy...
November 1, 2017: Workplace Health & Safety
https://www.readbyqxmd.com/read/28990532/a-novel-scn9a-mutation-f826y-in-primary-erythromelalgia-alters-the-excitability-of-nav1-7
#2
B Wu, Y Zhang, H Tang, Mei Yang, Hai Long, Gaoxing Shi, Jianguang Tang, Xiaoliu Shi
Primary erythromelalgia (PE) is a dominant inherited disorder characterized by recurrent pain, redness, and warmth of the extremities that is caused by gain-of-function mutations in the voltage-gated sodium channel Nav1.7. We investigated a three-generation Chinese Han family with PE. The proband is a 15-year old girl presented with skin ulcers, recurrent burning pain, warmth, and redness of the lower extremities that are refractory to all kinds of reported medications. The other two patients presented with similar symptoms but with far less severity that naturally remitted near their forties...
October 9, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28791051/a-unique-case-for-spinal-cord-stimulation-successful-treatment-of-small-fiber-neuropathy-pain-using-multiple-spinal-cord-stimulators
#3
Maxim Eckmann, Alexander Papanastassiou, Mark Awad
Spinal cord stimulators have commonly been used to treat multiple pain conditions. This case report represents a unique case of using multiple spinal cord stimulators for widespread small fiber neuropathy pain. This case report concerns patient JJ who first presented with generalized neuropathic pain. His pain was an intermittent burning, stinging quality that originally focused in both of his feet and progressed to include his legs and arms and eventually involved his entire body. The pain would last moments to hours at least daily...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28751508/between-fire-and-ice-refractory-hypothermia-and-warmth-induced-pain-in-inherited-erythromelalgia
#4
See Wan Tham, Li Li, Philip Effraim, Stephen Waxman
Inherited erythromelalgia (IEM) is a well-described pain disorder caused by mutations of sodium channel Nav1.7, a peripheral channel expressed within dorsal root ganglion and the sympathetic ganglion neurons. Clinically, IEM is characterised by paroxysmal attacks of severe pain, usually in the distal extremities, triggered by warmth or exercise. Pain is not adequately treated by existing pharmacological agents. Individuals with IEM classically cool their limbs for relief, in some cases resulting in tissue injury...
July 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28658526/reverse-pharmacogenomics-carbamazepine-normalizes-activation-and-attenuates-thermal-hyperexcitability-of-sensory-neurons-due-to-nav-1-7-mutation-i234t
#5
Yang Yang, Talia Adi, Philip R Effraim, Lubin Chen, Sulayman D Dib-Hajj, Stephen G Waxman
BACKGROUND AND PURPOSE: Pharmacotherapy for pain currently involves trial and error. A previous study on inherited erythromelalgia (a genetic model of neuropathic pain due to mutations in the sodium channel, Nav 1.7) used genomics, structural modelling and biophysical and pharmacological analyses to guide pharmacotherapy and showed that carbamazepine normalizes voltage dependence of activation of the Nav 1.7-S241T mutant channel, reducing pain in patients carrying this mutation. However, whether this approach is applicable to other Nav channel mutants is still unknown...
June 28, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28541877/erythromelalgia-involving-the-face
#6
Rachel R Gilmore, Danielle S Applebaum, Jessica L Parsons, Sylvia Hsu
Erythromelalgia is a rare disorder characterized by burning pain, erythema, and increased temperature typically involving the distal extremities. Although it can progress to involve the face, erythromelalgia presenting only on the face is particularly rare. This disorder is often misdiagnosed when it presents on the extremities and is even more likely to be misdiagnosed when presenting only on the face, delaying appropriate treatment and causing considerable frustration for the patient. We report a case of a 26-year-old woman with erythromelalgia that involved only the face for a number of years and was treated unsuccessfully as rosacea, seborrheic dermatitis, and contact dermatitis...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28490900/complex-management-of-a-patient-with-refractory-primary-erythromelalgia-lacking-a-scn9a-mutation
#7
Sarah A Low, Wendye Robbins, Vivianne L Tawfik
A 41-year-old woman presented with burning and erythema in her extremities triggered by warmth and activity, which was relieved by applying ice. Extensive workup was consistent with adult-onset primary erythromelalgia (EM). Several pharmacological treatments were tried including local anesthetics, capsaicin, ziconotide, and dantrolene, all providing 24-48 hours of relief followed by symptom flare. Interventional therapies, including peripheral and sympathetic ganglion blocks, also failed. Thus far, clonidine and ketamine have been the only effective agents for our patient...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28418213/pain-thresholds-supra-threshold-pain-and-lidocaine-sensitivity-in-patients-with-erythromelalgia-including-the-i848tmutation-in-nav-1-7
#8
T Helås, D Sagafos, I P Kleggetveit, H Quiding, B Jönsson, M Segerdahl, Z Zhang, H Salter, M Schmelz, E Jørum
OBJECTIVES: Nociceptive thresholds and supra-threshold pain ratings as well as their reduction upon local injection with lidocaine were compared between healthy subjects and patients with erythromelalgia (EM). METHODS: Lidocaine (0.25, 0.50, 1.0 or 10 mg/mL) or placebo (saline) was injected intradermally in non-painful areas of the lower arm, in a randomized, double-blind manner, to test the effect on dynamic and static mechanical sensitivity, mechanical pain sensitivity, thermal thresholds and supra-threshold heat pain sensitivity...
April 18, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28413058/erythromelalgia-identification-of-a-corticosteroid-responsive-subset
#9
Gabriel L Pagani-Estévez, Paola Sandroni, Mark D Davis, James C Watson
BACKGROUND: Corticosteroids (CS) may benefit certain patients with erythromelalgia. OBJECTIVES: Our objective was to determine clinical predictors of corticosteroid-responsive erythromelalgia. METHODS: Patients with erythromelalgia who received CS were identified and stratified into corticosteroid nonresponders (NRs), partial corticosteroid responders (PSRs), complete corticosteroid responders (CSRs), and steroid responders (SRs = PSRs + CSRs)...
March 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28410768/-small-fiber-neuropathy
#10
V Langlois, A-L Bedat Millet, M Lebesnerais, S Miranda, F Marguet, Y Benhamou, P Marcorelles, H Lévesque
Small fiber neuropathy (SFN) is still unknown. Characterised by neuropathic pain, it typically begins by burning feet, but could take many other expression. SFN affects the thinly myelinated Aδ and unmyelinated C-fibers, by an inherited or acquired mechanism, which could lead to paresthesia, thermoalgic disorder or autonomic dysfunction. Recent studies suggest the preponderant role of ion channels such as Nav1.7. Furthermore, erythromelalgia or burning mouth syndrome are now recognized as real SFN. Various aetiologies of SFN are described...
April 11, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28381558/gain-of-function-mutation-of-a-voltage-gated-sodium-channel-nav1-7-associated-with-peripheral-pain-and-impaired-limb-development
#11
Brian S Tanaka, Phuong T Nguyen, Eray Yihui Zhou, Yong Yang, Vladimir Yarov-Yarovoy, Sulayman D Dib-Hajj, Stephen G Waxman
Dominant mutations in voltage-gated sodium channel NaV1.7 cause inherited erythromelalgia, a debilitating pain disorder characterized by severe burning pain and redness of the distal extremities. NaV1.7 is preferentially expressed within peripheral sensory and sympathetic neurons. Here, we describe a novel NaV1.7 mutation in an 11-year-old male with underdevelopment of the limbs, recurrent attacks of burning pain with erythema, and swelling in his feet and hands. Frequency and duration of the episodes gradually increased with age, and relief by cooling became less effective...
June 2, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28235406/network-topology-of-nav1-7-mutations-in-sodium-channel-related-painful-disorders
#12
Dimos Kapetis, Jenny Sassone, Yang Yang, Barbara Galbardi, Markos N Xenakis, Ronald L Westra, Radek Szklarczyk, Patrick Lindsey, Catharina G Faber, Monique Gerrits, Ingemar S J Merkies, Sulayman D Dib-Hajj, Massimo Mantegazza, Stephen G Waxman, Giuseppe Lauria
BACKGROUND: Gain-of-function mutations in SCN9A gene that encodes the voltage-gated sodium channel NaV1.7 have been associated with a wide spectrum of painful syndromes in humans including inherited erythromelalgia, paroxysmal extreme pain disorder and small fibre neuropathy. These mutations change the biophysical properties of NaV1.7 channels leading to hyperexcitability of dorsal root ganglion nociceptors and pain symptoms. There is a need for better understanding of how gain-of-function mutations alter the atomic structure of Nav1...
February 24, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/28148645/nonlinear-effects-of-hyperpolarizing-shifts-in-activation-of-mutant-nav1-7-channels-on-resting-membrane-potential
#13
Mark Estacion, Stephen G Waxman
The Nav1.7 sodium channel is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons. Gain-of-function mutations that cause the painful disorder inherited erythromelalgia (IEM) shift channel activation in a hyperpolarizing direction. When expressed within DRG neurons, these mutations produce a depolarization of resting membrane potential (RMP). The biophysical basis for the depolarized RMP has to date not been established. To explore the effect on RMP of the shift in activation associated with a prototypical IEM mutation (L858H), we used dynamic-clamp models that represent graded shifts that fractionate the effect of the mutation on activation voltage dependence...
April 1, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28134954/buerger-test-for-erythromelalgia-revisited
#14
William F Wright, Manu Rajachandran
Leo Buerger, MD, was the first to describe dependent rubor associated with marked atherosclerosis. Historically, dependent rubor has been described as erythromelalgia (or erythromelia), and terms such as chronic rubor, reactionary rubor, induced rubor, and hyperemic response have also been used to describe this sign associated with peripheral vascular disease. This brief review will reacquaint physicians with the Buerger test, which is used to assess arterial sufficiency, as well as erythromelalgia, and the proposed mechanisms responsible for erythromelalgia...
February 1, 2017: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/28134657/burning-pain-axonal-dysfunction-in-erythromelalgia
#15
Michelle A Farrar, Ming-Jen Lee, James Howells, Peter I Andrews, Cindy S-Y Lin
Erythromelalgia (EM) is a rare neurovascular disorder characterized by intermittent severe burning pain, erythema, and warmth in the extremities on heat stimuli. To investigate the underlying pathophysiology, peripheral axonal excitability studies were performed and changes with heating and therapy explored. Multiple excitability indices (stimulus-response curve, strength-duration time constant (SDTC), threshold electrotonus, and recovery cycle) were investigated in 23 (9 EMSCN9A+ and 14 EMSCN9A-) genetically characterized patients with EM stimulating median motor and sensory axons at the wrist...
May 2017: Pain
https://www.readbyqxmd.com/read/27989332/neuropathic-and-myopathic-pain
#16
REVIEW
Anthony C Rodrigues, Peter B Kang
The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27926760/epidermal-nerve-fiber-quantification-in-patients-with-erythromelalgia
#17
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
#18
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
#19
REVIEW
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
#20
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
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