Erythromelalgia
A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS.
NAV1.7 Voltage-Gated Sodium Channel
Arteriovenous Anastomosis
Voltage-Gated Sodium Channel beta-2 Subunit
Pain Insensitivity, Congenital
A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
Sodium Channels
Voltage-Gated Sodium Channel beta-4 Subunit
Ganglia, Spinal
Sensory ganglia located on the dorsal spinal roots within the vertebral column. The spinal ganglion cells are pseudounipolar. The single primary branch bifurcates sending a peripheral process to carry sensory information from the periphery and a central branch which relays that information to the spinal cord or brain.
Impaired skin vasomotor reflexes in patients with erythromelalgia. (1/53)
Erythromelalgia (EM) is a chronic disorder characterized by intermittent burning pain, warmth and erythema of the extremities. Increasing the local temperature and dependency of the affected limb(s) precipitates the symptoms, whereas direct cooling and elevation of the limb(s) can provide partial relief. Our previous findings showed that patients with EM have enhanced cutaneous vascular tone at rest and during stimulation, which may be due to an increase in sympathetic neural activity. To test this, we measured skin vasoconstrictor responses to contralateral arm cold challenge (CC) and inspiratory gasp (IG) using laser Doppler flowmetry at the toe pulp and fingertip. These areas were chosen because of their dense sympathetic innervation. An index of the vasoconstrictor response (between 0 and 1) was calculated from the change in skin perfusion from baseline following CC and IG. In control subjects, vasoconstrictor responses to CC at the toe and fingertip were both 0. 70+/-0.02 (mean+/-S.E.M.), which were significantly greater (P<0. 001) than corresponding values in patients with EM (0.37+/-0.04 and 0.45+/-0.04 respectively). Similarly, vasoconstrictor responses to IG were significantly greater (P<0.001) at the toe and fingertip in control subjects (0.70+/-0.03 and 0.70+/-0.02 respectively) compared with values in EM patients (0.27+/-0.03 and 0.45+/-0.15 respectively). These data show that, in contrast with control subjects, patients with EM have diminished sympathetic vasoconstrictor responses to both CC and IG. Denervation supersensitivity may play a part by increasing vasoconstrictor responses to circulating catecholamines, leading to a reduction in skin blood flow. Therefore an interplay between neural and vasoactive agents may be involved in the pathophysiology of EM. (+info)Microvascular arteriovenous shunting is a probable pathogenetic mechanism in erythromelalgia. (2/53)
Erythromelalgia is a condition consisting of red, warm, and burning painful extremities. Symptoms are relieved by cold and aggravated by heat. A wide variety of etiologic conditions can cause erythromelalgia, but one common pathogenetic mechanism, microvascular arteriovenous shunting, has been hypothesized. The aim of this study was to test this hypothesis. Quantification of skin microvascular perfusion using laser Doppler perfusion imaging and skin temperature at rest and after central body heating was performed in 14 patients with erythromelalgia and 11 controls. Attacks of erythromelalgia were induced in eight patients after heat provocation. In the plantar region of the foot, the location of numerous anatomical arteriovenous shunts, these patients significantly increased the skin perfusion as compared with asymptomatic patients with erythromelalgia and controls. In the dorsal region with few arteriovenous shunts no significant differences between the groups were demonstrated. The results show a relation between clinical symptoms and increased perfusion in the region of numerous anatomical arteriovenous shunts, and support the hypothesis of increased thermoregulatory arteriovenous shunt flow during attacks in primary erythromelalgia. (+info)Erythromelalgia--a thrombotic complication in chronic myeloproliferative disorders. (3/53)
Erythromelalgia is a very specific, thrombotic syndrome related with thrombocythemia that may occur during the course of chronic myeloproliferative disorders (MPD), especially polycythemia vera (PV) and essential thrombocythemia (ET). This poorly understood clinical syndrome is characterized by red, congested distal extremities and painful burning sensations, usually confined to the ball of the foot and one or more toes or fingers. If left untreated, it may progress towards acrocyanosis and even peripheral gangrene. Sometimes, it may precede the diagnosis of MPD by months or years. The pathophysiological aspects of erythromelalgia as well as its differentiation with erythermalgia have been reviewed in this study. (+info)Myeloproliferative disorders--neurological complications. (4/53)
Primary myeloproliferative disorders (MPD) are often associated with hemostasis abnormalities, which may cause many thrombotic or hemorrhagic complications during the course of the disease. Clinical consequences following abnormal hemostatic conditions include various neurological manifestations. It is extremely difficult to predict and evaluate the risk and chance, that MPD patients will develop neurological symptoms. The up-to-date background of pathological thrombocytosis, as well as the neurological aspects of abnormal hemostasis during the course of myeloproliferative disorders have been reviewed in this study. (+info)The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32. (5/53)
Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. The symptoms are generally refractory to treatment and persist throughout life. Five kindreds with multiple cases of primary erythermalgia were identified, and the largest was subjected to a genomewide search. We detected strong evidence for linkage of the primary erythermalgia locus to markers from chromosome 2q. The highest LOD score (Z) was obtained with D2S2330 (Z(max) = 6.51). Analysis of recombination events identified D2S2370 and D2S1776 as flanking markers, on chromosome 2q31-32. This defines a critical interval of 7.94 cM that harbors the primary erythermalgia gene. Affected members within the additional families also shared a common haplotype on chromosome 2q31-32, supporting our linkage results. Identification of the primary erythermalgia gene will allow a better clinical classification of this pleomorphic group of disorders. (+info)Impaired neurogenic control of skin perfusion in erythromelalgia. (6/53)
Erythromelalgia is a clinical diagnosis characterized by erythema, increased temperature and burning pain in acral skin. The pain is relieved by cooling and aggravated by warming. The symptoms have been hypothesized to be caused by skin hypoxia due to increased arteriovenous shunting. We examined skin microvascular perfusion in response to vasoconstrictory and vasodilatory stimuli, to characterize local and central neurogenic reflexes as well as vascular smooth muscle and vascular endothelial function, using laser Doppler perfusion measurements in 14 patients with primary erythromelalgia and healthy control persons. Skin perfusion preceding provocative stimuli was significantly reduced in patients with erythromelalgia (p < 0.01). The laser Doppler flowmetry signal after sympathetic stimulation of reflexes mediated through the central nervous system, was significantly diminished in patients with erythromelalgia as compared with healthy controls (Valsalva's maneuver p < 0.01; contralateral cooling test p < 0.05). Local neurogenic vasoconstrictor (venous cuff occlusion and dependency of the extremity) and vasodilator reflexes (local heating of the skin), as well as tests for vascular smooth muscle and vascular endothelial function (postocclusive hyperemic response) were maintained. These results indicate that postganglionic sympathetic dysfunction and denervation hypersensitivity may play a pathogenetic role in primary erythromelalgia, whereas local neurogenic as well as endothelial function is unaffected. (+info)Erythromelalgia: an endothelial disorder responsive to sodium nitroprusside. (7/53)
Erythromelalgia is an unusual syndrome of painful vasodilatation. Aetiopathology is probably different in children and adults. Presentation can be severe and associated with hypertension. Dramatic benefit from infused nitroprusside suggests the disorder could represent a dysfunctional endothelium. (+info)Reduced skin capillary density during attacks of erythromelalgia implies arteriovenous shunting as pathogenetic mechanism. (8/53)
Erythromelalgia is characterized by burning pain, erythema, and increased temperature in acral skin. The pain is aggravated by warming and relieved by cooling. Increased microvascular arteriovenous shunting in deep dermal plexa has been hypothesized as the pathogenetic mechanism of pain in affected skin, inducing hypoxia during pain attacks. The aim of this study was to quantify skin capillary density in erythromelalgic patients before and after heat provocation, as increased skin temperature should increase the need for nutritive blood supply by the capillaries. Fourteen patients and 10 healthy control subjects were studied using an enhanced technique of computer-assisted analysis of capillary bed morphology and temperature measurements before and after central body heating. The increase in acral skin temperature was significantly higher (p < 0.05) in the eight patients where symptoms were induced after heat provocation, compared to asymptomatic patients and healthy control subjects. The number of visible capillaries in a field of view (1.7 mm2) decreased significantly (p = 0.01) in erythromelalgia patients from 105 (62-137) (median with total range) to 89 (49-118) after warming in areas with numerous arteriovenous anastomoses (nail bed region). In symptomatic patients an even more significant reduction was observed (p = 0.01). The capillary size was also significantly reduced (p < 0.05) from 41.0 (31.5-50.5) (arbitrary units) to 37.3 (33.0-46.0) in symptomatic patients. The change in capillary density in the nail bed area was significantly larger in erythromelalgia patients -17 (-49 to 39) compared to controls 0 (-47 to 13) (p < 0.05), and in symptomatic patients -19 (-49 to -12) compared to asymptomatic patients -8 (-48 to 39) (p < 0.05) and controls (p < 0.01). The reduced skin capillary density after heating is compatible with increased microvascular arteriovenous shunting of blood and a corresponding relative deficit in nutritive perfusion (steal phenomenon) with skin hypoxia, causing the symptoms in erythromelalgia. (+info)Erythromelalgia is a rare vascular peripheral disorder characterized by burning pain, erythema and increased temperature, usually affecting the extremities, triggered by warmth or dependent position.
Erythromelalgia is a rare vascular disorder characterized by recurrent episodes of burning pain, erythema (redness), and increased temperature in the extremities, typically the hands and feet. The symptoms are caused by abnormal dilatation (widening) of the small blood vessels, leading to increased blood flow and oxygen supply to the affected areas. This condition can be primary (idiopathic), meaning it occurs without any known underlying cause, or secondary, resulting from another medical condition such as peripheral neuropathy, myeloproliferative disorders, or connective tissue diseases. Treatment for erythromelalgia aims to alleviate symptoms and may include medications that help narrow blood vessels, such as aspirin, calcium channel blockers, or topical capsaicin cream.
NAV1.7 Voltage-Gated Sodium Channel is a type of ion channel protein, encoded by the SCN9A gene in humans, that plays a crucial role in initiating and propagating action potentials in neurons, and has been associated with pain perception and certain inherited neurological disorders.
NAV1.7, also known as SCN9A, is a gene that encodes for the α subunit of a voltage-gated sodium channel. This specific sodium channel, referred to as the Nav1.7 voltage-gated sodium channel, plays a crucial role in the initiation and propagation of action potentials in neurons, particularly in peripheral nerves.
The Nav1.7 channel is primarily responsible for generating the rapid upstroke of the action potential, which is essential for nerve impulse transmission. It exhibits unique biophysical properties, such as slow activation, fast inactivation, and rapid repriming, making it highly sensitive to small changes in membrane voltage. This sensitivity allows Nav1.7 channels to function as threshold channels, selectively amplifying subthreshold depolarizations and contributing to the generation of action potentials.
Dysfunction in the Nav1.7 channel has been implicated in various pain-related disorders. Gain-of-function mutations in the SCN9A gene can lead to chronic pain conditions, such as inherited erythromelalgia and paroxysmal extreme pain disorder. In contrast, loss-of-function mutations have been associated with congenital insensitivity to pain, a rare condition characterized by the inability to experience pain. Thus, Nav1.7 channels are considered promising targets for the development of novel analgesic drugs.
An arteriovenous anastomosis is a direct, abnormal connection or bypass between an artery and a vein, often resulting in the diversion of blood flow directly into the venous system, which can occur congenitally or as a result of surgical intervention or disease processes.
An arteriovenous (AV) anastomosis is a connection or short channel between an artery and a vein that bypasses the capillary bed. In a normal physiological condition, blood flows from the arteries to the capillaries, where oxygen and nutrients are exchanged with the surrounding tissues, and then drains into veins. However, in an AV anastomosis, blood flows directly from the artery to the vein without passing through the capillary network.
AV anastomoses can occur naturally or be created surgically for various medical purposes. For example, they may be created during bypass surgery to reroute blood flow around a blocked or damaged vessel. In some cases, AV anastomoses may also develop as a result of certain medical conditions, such as cirrhosis or arteriovenous malformations (AVMs). AVMs are abnormal connections between arteries and veins that can lead to the formation of an AV anastomosis.
It is important to note that while AV anastomoses can be beneficial in certain medical situations, they can also have negative consequences if they occur inappropriately or become too large. For example, excessive AV anastomoses can lead to high-flow shunts, which can cause tissue damage and other complications.
The voltage-gated sodium channel beta-2 subunit (SCN2B) is a membrane protein that associates with the pore-forming alpha subunit of voltage-gated sodium channels, modulating their biophysical properties and contributing to the regulation of neuronal excitability.
The voltage-gated sodium channel β-2 subunit, also known as SCN3B or NaVβ2, is a regulatory protein that associates with the pore-forming α-subunit of voltage-gated sodium channels. These channels play crucial roles in generating and propagating action potentials in excitable cells such as neurons and muscle cells.
The β-2 subunit is a member of the immunoglobulin superfamily, containing an extracellular immunoglobulin-like domain, a transmembrane segment, and a short intracellular tail. The primary function of the β-2 subunit is to modulate the kinetic properties and plasma membrane expression of the sodium channel complex. It can influence the voltage dependence, activation, and inactivation of sodium currents, as well as the susceptibility to channel blockers.
The β-2 subunit also interacts with other cell adhesion molecules and extracellular matrix proteins, which may contribute to the proper localization and clustering of sodium channels at nodes of Ranvier in myelinated neurons or at the neuromuscular junction. Mutations in the SCN3B gene have been associated with various neurological disorders, including epilepsy and periodic paralyses.
Congenital Pain Insensitivity, also known as Congenital Insensitivity to Pain (CIP), is a rare genetic disorder characterized by the inability to perceive physical pain due to the absence of functional nociceptors or their impaired signaling to the brain.
Congenital pain insensitivity, also known as congenital analgesia, is a rare genetic disorder characterized by the absence of ability to feel pain due to the malfunction or lack of functioning nociceptors - the nerve cells that transmit painful stimuli to the brain. It is typically caused by mutations in the SCN9A gene, which encodes a sodium channel necessary for the function of nociceptors.
Individuals with congenital pain insensitivity may not feel any pain from injuries or other sources of harm, and as a result, they are at risk for serious injury or even death due to lack of protective responses to painful stimuli. They may also have an increased risk of developing recurrent infections and self-mutilation behaviors.
It is important to note that while these individuals do not feel pain, they can still experience other sensory inputs such as touch, temperature, and pressure. Congenital pain insensitivity is a complex medical condition that requires careful management and monitoring by healthcare professionals.
'Sodium channels' are transmembrane protein complexes that facilitate the selective flow of sodium ions (Na+) through the cell membrane, crucial for generating and propagating action potentials in excitable cells such as neurons and muscle fibers.
Sodium channels are specialized protein structures that are embedded in the membranes of excitable cells, such as nerve and muscle cells. They play a crucial role in the generation and transmission of electrical signals in these cells. Sodium channels are responsible for the rapid influx of sodium ions into the cell during the initial phase of an action potential, which is the electrical signal that travels along the membrane of a neuron or muscle fiber. This sudden influx of sodium ions causes the membrane potential to rapidly reverse, leading to the depolarization of the cell. After the action potential, the sodium channels close and become inactivated, preventing further entry of sodium ions and helping to restore the resting membrane potential.
Sodium channels are composed of a large alpha subunit and one or two smaller beta subunits. The alpha subunit forms the ion-conducting pore, while the beta subunits play a role in modulating the function and stability of the channel. Mutations in sodium channel genes have been associated with various inherited diseases, including certain forms of epilepsy, cardiac arrhythmias, and muscle disorders.
The voltage-gated sodium channel beta-4 subunit (SCN4B) is a protein component of neuronal voltage-gated sodium channels that plays a role in modulating channel kinetics, membrane expression, and cell adhesion, with genetic variations associated with various forms of peripheral nerve hyperexcitability disorders.
The voltage-gated sodium channel β-4 subunit, also known as SCN4B, is a protein that forms part of the voltage-gated sodium channel complex in excitable cells such as neurons and muscle cells. The channel complex is responsible for the rapid influx of sodium ions into the cell during the initiation and propagation of action potentials.
The β-4 subunit is one of several accessory proteins that associate with the pore-forming α-subunit to modulate the function of the channel. Specifically, the β-4 subunit has been shown to regulate the kinetics and voltage dependence of sodium channel activation and inactivation, as well as the expression and trafficking of the channel complex to the cell membrane.
Mutations in the SCN4B gene, which encodes the β-4 subunit, have been associated with various forms of inherited peripheral nerve hyperexcitability disorders, such as paramyotonia congenita and hyperkalemic periodic paralysis. These disorders are characterized by muscle stiffness, cramping, and weakness in response to cold or exercise, and are thought to result from abnormalities in sodium channel function.
'Skin temperature' is the measure of heat emitted by the skin, reflecting cutaneous blood flow and peripheral vasodilation or constriction, which can be influenced by various physiological and pathophysiological conditions as well as environmental factors.
Skin temperature is the measure of heat emitted by the skin, which can be an indicator of the body's core temperature. It is typically lower than the body's internal temperature and varies depending on factors such as environmental temperature, blood flow, and physical activity. Skin temperature is often used as a vital sign in medical settings and can be measured using various methods, including thermal scanners, digital thermometers, or mercury thermometers. Changes in skin temperature may also be associated with certain medical conditions, such as inflammation, infection, or nerve damage.
'Spinal ganglia' are clusters of nerve cell bodies (neurons) located in the dorsal root region of spinal nerves that transmit sensory information from the periphery to the central nervous system.
Spinal ganglia, also known as dorsal root ganglia, are clusters of nerve cell bodies located in the peripheral nervous system. They are situated along the length of the spinal cord and are responsible for transmitting sensory information from the body to the brain. Each spinal ganglion contains numerous neurons, or nerve cells, with long processes called axons that extend into the periphery and innervate various tissues and organs. The cell bodies within the spinal ganglia receive sensory input from these axons and transmit this information to the central nervous system via the dorsal roots of the spinal nerves. This allows the brain to interpret and respond to a wide range of sensory stimuli, including touch, temperature, pain, and proprioception (the sense of the position and movement of one's body).
Erythromelalgia
... primary/idiopathic erythromelalgia or secondary erythromelalgia. The primary/idiopathic form of erythromelalgia is not ... Primary erythromelalgia is caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A. In 2004 erythromelalgia ... Erythromelalgia can be found in several billing codes systems and other systems. Erythromelalgia is generally classified as a ... Erythromelalgia at eMedicine Smith, L.A.; Allen, F.V. (1938). "Erythermalgia (erythromelalgia) of the extremities. A syndrome ...
Blood vessel disorder
Erythromelalgia is a rare clinical disorder causing redness, burning sensation and intense pain in limbs. It is more common to ... For instance, erythromelalgia is caused by the mutation of the SCN9A gene, which alters the neural pathway to blood vessels. ... Erythromelalgia initiated from dysfunction of peripheral nerves that thickens the blood vessel walls, resulting in hyperaemic ... Daniels, Justin (2011). "Erythromelalgia". Harper's Textbook of Pediatric Dermatology. pp. 166.1-166.4. doi:10.1002/ ...
Vascular disease
Erythromelalgia - a rare peripheral vascular disease with symptoms that include burning pain, increased temperature, erythema ... "Erythromelalgia". nhs.uk. 2017-10-18. Retrieved 2019-01-04. "Thromboangiitis obliterans: MedlinePlus Medical Encyclopedia". www ...
Paralepistopsis acromelalga
Saviuc PF, Danel VC, Moreau PA, Guez DR, Claustre AM, Carpentier PH, Mallaret MP, Ducluzeau R (2001). "Erythromelalgia and ...
Nav1.7
Like primary erythromelalgia, PEPD is similarly the result of a gain-of-function mutation in the gene encoding the Nav1.7 ... This is in contrast with the genetic basis of primary erythromelalgia in which the disorder results from gain-of-function ... Tang Z, Chen Z, Tang B, Jiang H (September 2015). "Primary erythromelalgia: a review". Orphanet Journal of Rare Diseases. 10: ... All of the observed erythromelalgia mutations that are observed are missense mutations that change important and highly ...
Paralepistopsis amoenolens
Saviuc PF, Danel VC, Moreau PA, Guez DR, Claustre AM, Carpentier PH, Mallaret MP, Ducluzeau R (2001). "Erythromelalgia and ... The resulting syndrome of fungus-induced erythromelalgia lasted from 8 days to 5 months, although one person exhibited symptoms ...
Clitocybe
Saviuc PF, Danel VC, Moreau PA, Guez DR, Claustre AM, Carpentier PH, Mallaret MP, Ducluzeau R (2001). "Erythromelalgia and ... has led to several cases of mushroom-induced erythromelalgia which lasted from 8 days to 5 months. Many small Clitocybe species ...
Buerger's test
The test may also be used in the diagnosis of erythromelalgia. Peripheral vascular examination Claudication Browse NL, Black J ... Wright WF, Rajachandran M (February 2017). "Buerger Test for Erythromelalgia Revisited". The Journal of the American ...
Raynaud syndrome
Berlin AL, Pehr K (March 2004). "Coexistence of erythromelalgia and Raynaud's phenomenon". Journal of the American Academy of ... People whose disease is secondary to erythromelalgia often cannot use vasodilators for therapy, as they trigger 'flares' ... however it affects smaller areas than erythromelalgia, for instance the tip of a toe rather than the whole foot) Raynaud's can ... fatigue syndrome Reflex sympathetic dystrophy Carpal tunnel syndrome Magnesium deficiency Multiple sclerosis Erythromelalgia ( ...
Pizotifen
... has also been reported as highly effective in a severe case of erythromelalgia, a rare neurovascular disease that is ... Cohen JS (November 2000). "Erythromelalgia: new theories and new therapies". Journal of the American Academy of Dermatology. 43 ...
Polycythemia vera
Erythromelalgia is caused by an increased platelet count or increased platelet "stickiness" (aggregation), resulting in the ... Michiels J (1997). "Erythromelalgia and vascular complications in polycythemia vera". Semin Thromb Hemost. 23 (5): 441-54. doi: ... van Genderen P, Michiels J (1997). "Erythromelalgia: a pathognomonic microvascular thrombotic complication in essential ... is erythromelalgia. This is a burning pain in the hands or feet, usually accompanied by a reddish or bluish coloration of the ...
Silas Weir Mitchell (physician)
... erythromelalgia) is named after him. He also coined the term phantom limb during his study of an amputee. Mitchell discovered ... erythromelalgia Dorland's Medical Dictionary (1938) Rest in the Treatment of Nervous Disease (1875) Fat and Blood: And How to ... and erythromelalgia, and pioneered the rest cure. Silas Weir Mitchell was born on February 15, 1829, in Philadelphia, ...
TMEM8B
Erythromelalgia is a rare condition that affects the extremities (hands and feet), and is characterized by intense, burning ... "Erythromelalgia - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved ... Mutations with this gene can be pathogenic, and cause chronic pain disorders, specifically erythromelalgia symptoms. ...
Steven Novella
Novella, SP; Hisama, FM; Dib-Hajj, SD; Waxman, SG (April 2007). "About the authors: A case of inherited erythromelalgia". ...
Red ear syndrome
Brill TJ, Funk B, Thaçi D, Kaufmann R (December 2009). "Red ear syndrome and auricular erythromelalgia: the same condition?". ...
SARM1
October 2019). "Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia". Experimental Neurology. 320: ... fetal akinesia deformation sequence and childhood-onset polyneuropathy with erythromelalgia. Mutations in the human SARM1 gene ...
Polycythemia
Examination of digits for erythromelalgia, clubbing or cyanosis can help assess for chronic hypoxia. Polycythemia is often ... erythromelalgia) Itchiness, especially after a hot shower (aquagenic pruritis) Numbness or tingling in different body parts The ...
Stephen Waxman
"Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling". JAMA ... "Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia" (PDF ...
Small fiber peripheral neuropathy
Other notable studies have shown a link between erythromelalgia, fibromyalgia, Ehlers-Danlos Syndrome and long covid. The ... "Histopathologic findings in primary erythromelalgia are nonspecific: special studies show a decrease in small nerve fiber ...
Carl Jakob Adolf Christian Gerhardt
In 1892 he provided an early description of erythromelalgia, a condition once referred to as "Gerhardt's disease". "Gerhardt's ...
PF-05089771
As of June 2014, it has completed phase II clinical trials for wisdom tooth removal and primary erythromelalgia. List of ...
Thrombocythemia
van Genderen PJ, Lucas IS, van Strik R, Vuzevski VD, Prins FJ, van Vliet HH, Michiels JJ (September 1996). "Erythromelalgia in ... A very small number of people report symptoms of erythromelalgia, a burning sensation and redness of the extremities that ...
Basophilia
With some conditions, such as polycythemia vera, erythromelalgia, or burning of the palms and soles, coupled with ...
Burning feet syndrome
Erythromelalgia Small fiber peripheral neuropathy Tarsal tunnel syndrome Chemotherapy-induced acral erythema Tavee J, Zhou L. ...
Chilblains
Related medical conditions include Raynaud syndrome, erythromelalgia, frostbite, and trench foot, as well as connective tissue ...
Paroxysmal extreme pain disorder
PEPD symptoms are reminiscent of primary erythromelalgia, as both result in flushing and episodic pain, though pain is ... typically present in the extremities for primary erythromelalgia. Both of these disorders have recently been shown to be ...
Vixotrigine
... it is in phase III clinical trials for trigeminal neuralgia and is in phase II clinical studies for erythromelalgia and ...
Thermoregulation in humans
Induced hypothermia Erythromelalgia (hyperthermia) Hypohidrotic ectodermal dysplasia Thermogenesis Poikilothermia Guyton, A.C ...
List of ICD-9 codes 390-459: diseases of the circulatory system
... of vertebral artery 443.29 Dissection of other artery 443.8 Other specified peripheral vascular diseases 443.82 Erythromelalgia ...
List of skin conditions
... purpura Eczematid-like purpura of Doucas and Kapetanakis Epidemic dropsy Erythema elevatum diutinum Erythromelalgia ( ...
Underlying primarySCN9ASymptomsOnset of erythromelalgiaCause erythromelalgiaDisorderDiagnosisSecondaryAutosomal dominantMutationsSilas Weir MitDorsal root ganEpisodesHereditaryClinicalFamilialErythemaExtremitiesNaV1.7RaynaudsGeneRareSyndromeIdiopathicBromocriptineEpidemicPainSubjectsD004916ThrombosisOutcomeInsightsPatientsTreatment
Underlying primary1
- For secondary erythromelalgia, attacks typically precede and are precipitated by the underlying primary condition. (wikipedia.org)
SCN9A11
- Primary erythromelalgia is caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A. (wikipedia.org)
- In 2004 erythromelalgia became the first human disorder in which it has been possible to associate an ion channel mutation with chronic neuropathic pain, when its link to the SCN9A gene was initially published in the Journal of Medical Genetics. (wikipedia.org)
- Mutations in the SCN9A gene can cause erythromelalgia. (medlineplus.gov)
- An estimated 15 percent of cases of erythromelalgia are caused by mutations in the SCN9A gene. (medlineplus.gov)
- Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. (medscape.com)
- Primary erythromelalgia is nowadays considered to be a genetically determined neuropathic disorder affecting SCN9A, SCN10A, and SCN11A coding for NaV1.7, NaV1.8, and NaV1.9 neuronal sodium channels. (nih.gov)
- Erythromelalgia can be caused by changes in the SCN9A gene thatprovides the instructions for a sodium channel in pain nerves. (zana.com)
- Multiple variants in the SCN9A gene have been found to cause erythromelalgia, a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. (nih.gov)
- Primary erythromelalgia has been linked to mutations in SCN9A , the gene that encodes voltage-gated sodium channel Na V 1.7 [ 10 ]. (biomedcentral.com)
- In 2004, investigators at Yale University School of Medicine linked SCN9A to another rare abnormality called erythromelalgia. (baltimoresun.com)
- Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. (cdc.gov)
Symptoms9
- The most prominent symptoms of erythromelalgia are episodes of erythema, swelling, a painful deep-aching of the soft tissue (usually either radiating or shooting) and tenderness, along with a painful burning sensation primarily in the extremities. (wikipedia.org)
- The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. (medlineplus.gov)
- This increase in sodium ions enhances transmission of pain signals, leading to the signs and symptoms of erythromelalgia. (medlineplus.gov)
- Primary erythromelalgia is an autosomal dominant pain disorder characterized by burning pain and skin redness in the extremities, with onset of symptoms during the first decade in the families whose mutations have been physiologically studied to date. (biomedcentral.com)
- The smaller shift in voltage-dependence of activation of Na V 1.7, compared to the other reported cases of inherited erythromelalgia, may contribute to the later age of onset and slower progression of the symptoms reported in association with this mutation. (biomedcentral.com)
- Only erythromelalgia-like symptoms and warmth-induced pain were significantly more common in patients harbouring VGSC variants. (bmj.com)
- The symptoms your father has like burning pain in the hands and feet is referred to as erythromelalgia. (ndtv.com)
- For example, in a large series of about 1,500 patients who had WHO [World Health Organization]-defined polycythemia vera, almost a third of patients presented with palpable spleen, had pruritis, also had vasomotor symptoms like erythromelalgia. (onclive.com)
- If you are experiencing any of these symptoms, it is strongly suggested that you are under the care of a podiatrist who can properly diagnose and prescribe medication that may help the symptoms of erythromelalgia. (toetalfamilyfootcare.com)
Onset of erythromelalgia1
- In the 1987 epidemic in Hubei, 60.6% of patients had a common cold before the onset of erythromelalgia and 91.2% had pharyngitis. (wikipedia.org)
Cause erythromelalgia1
- Classification of erythromelalgia into primary and secondary types may be controversial when comorbid conditions are mislabeled as underlying diseases that cause erythromelalgia. (clinicalgate.com)
Disorder11
- Erythromelalgia or Mitchell's disease (after Silas Weir Mitchell) is a rare vascular peripheral pain disorder in which blood vessels, usually in the lower extremities or hands, are episodically blocked (frequently on and off daily), then become hyperemic and inflamed. (wikipedia.org)
- Erythromelalgia may occur either as a primary or secondary disorder (i.e. a disorder in and of itself or a symptom of another condition). (wikipedia.org)
- Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
- Because erythromelalgia may precede a myeloproliferative disorder by several years, repeated blood counts may be indicated. (msdmanuals.com)
- Erythromelalgia is a rare disorder that causes episodes of burning pain and redness in the hands and feet, and sometimes the arms, legs, ears and face. (zana.com)
- Erythromelalgia, also known as Mitchell's disease, is a rare vascular peripheral pain disorder in which blood vessels, usually in the lower extremities or hands, are episodically blocked (frequently on and off daily), then become hyperemic and inflamed. (fredkahnmd.com)
- Erythromelalgia is a rare disorder that results from enlarged blood vessels in the feet. (myfeetusa.com)
- Primary erythromelalgia is a rare, inherited, autosomal dominant disorder, characterized by intermittent burning pain in the extremities and skin redness of the affected areas. (biomedcentral.com)
- Acrocyanosis is a functional peripheral vascular disorder and is much less common than other acrosyndromes (Raynauds phenomenon and erythromelalgia). (e-ijd.org)
- Erythromelalgia is a rare disorder that includes enlargement of the blood vessels in the feet. (chicagofootcareclinic.com)
- Erythromelalgia is a fairly rare disorder manifested by vasodilatation of the blood vessels in the feet. (premierfootankle.com)
Diagnosis3
- Classification and diagnosis of erythromelalgia and erythermalgia. (medscape.com)
- Diagnosis of erythromelalgia is clinical. (msdmanuals.com)
- The diagnosis of erythromelalgia is based on history because there are no objective physical findings. (clinicalgate.com)
Secondary5
- Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, polycythemia vera, essential thrombocytosis, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. (wikipedia.org)
- In rural areas of southern China, outbreaks of erythromelalgia have occurred during winter and spring at 3-5 year intervals among secondary school students. (wikipedia.org)
- Thrombocythemic erythromelalgia, primary erythermalgia, and secondary erythermalgia: three distinct clinicopathologic entities. (medscape.com)
- Exclusion of several other treatable diseases/secondary erythromelalgia is also necessary because of the lack of biomarkers specifically for PE. (qxmd.com)
- Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS . (bvsalud.org)
Autosomal dominant3
- Primary erythromelalgia may be classified as either familial or sporadic, with the familial form inherited in an autosomal dominant manner. (wikipedia.org)
- Primary erythromelalgia (PE ORPHA90026) is a rare autosomal dominant neuropathy characterized by the combination of recurrent burning pain, warmth and redness of the extremities. (qxmd.com)
- Autosomal dominant Olmsted syndrome has been associated with a defect of TRPV3 that may lead to erythromelalgia in some patients. (logicalimages.com)
Mutations4
- demonstrated that NaV1.7 mutants channels, from families with inherited erythromelalgia (IEM), make dorsal root ganglion (DRG, peripheral and sensory), neurons hyper excitable, thereby demonstrating the mechanistic link between these mutations and pain, thereby firmly establishing NaV1.7 gain-of-function mutations as the molecular basis for IEM. (wikipedia.org)
- Several mutations of voltage-gated Na + channel Na V 1.7 have been linked with primary erythromelalgia. (biomedcentral.com)
- I136V shifts the voltage-dependence of activation by -5.7 mV, a smaller shift in activation than the other erythromelalgia mutations that have been characterized. (biomedcentral.com)
- In contrast, disorders like erythromelalgia - a chronic skin disease characterized by periodic episodes of severe burning sensations - are often associated with activating Nav1.7 mutations. (gizmodo.com)
Silas Weir Mit1
- However, these synonyms are not widely used, and most authors now use the term erythromelalgia as originally used by Silas Weir Mitchell (1829-1914). (clinicalgate.com)
Dorsal root gan1
- Each of these changes may contribute to increased excitability of nociceptive dorsal root ganglion neurons, which underlies pain in erythromelalgia. (biomedcentral.com)
Episodes4
- Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. (medlineplus.gov)
- It is unknown why the pain episodes associated with erythromelalgia mainly occur in the hands and feet. (medlineplus.gov)
- Between the pain episodes, the affected skin areas are usually asymptomatic, but there are patients with typical features of acrocyanosis and/or Raynaud's phenomenon preceding or occurring in between the episodes of erythromelalgia. (nih.gov)
- People with erythromelalgia typically suffer episodes or flare-ups of severe pain lasting from a few minutes to days. (zana.com)
Hereditary2
- Erythromelalgia: a hereditary pain syndrome enters the molecular era. (medscape.com)
- A rare hereditary form of erythromelalgia starts at birth or during childhood. (msdmanuals.com)
Clinical6
- Erythromelalgia is generally classified as a disease of the circulatory system, falling under the class of other peripheral vascular disease, as the following two billing code systems will show: ICD-9-CM According to the ICD-9-CM database (International Classification of Diseases, Ninth Revision, Clinical Modification), Erythromelalgia is listed under Diseases of the Circulatory System and is identified by number 443.82. (wikipedia.org)
- ICD-10-CM According to the ICD-10-CM database (International Classification of Diseases, Tenth Revision, Clinical Modification), Erythromelalgia is listed under Diseases of the circulatory system and is identified by I73.81. (wikipedia.org)
- Clinical features and management of erythromelalgia: long term follow-up of 46 cases. (medscape.com)
- Kalgaard OM, Seem E, Kvernebo K. Erythromelalgia: a clinical study of 87 cases. (medscape.com)
- Several controversies persist concerning erythromelalgia: nomenclature, diagnostic criteria, scoring systems for clinical severity, and pathogenesis. (clinicalgate.com)
- Objective: To describe the demographics, presentation, and outcome in patients with erythromelalgia - a rare and poorly understood clinical syndrome defined by the triad of red, hot, painful extremities. (elsevierpure.com)
Familial1
- Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. (bvsalud.org)
Erythema1
- Erythromelalgia is a rare condition characterized by burning pain, erythema and increased temperature of the hands or the feet. (phoenixrising.me)
Extremities1
- Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremities. (nih.gov)
NaV1.71
- Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. (medscape.com)
Raynauds2
- When these controls fail to operate normally we see the pathologic disease patterns of erythromelalgia or Raynauds disease or phenomenon. (premierfootankle.com)
- Internal medicine or an internist is a good place to start to make sure there are no disease factors or other medications causing the Raynauds or erythromelalgia. (premierfootankle.com)
Gene1
- In somepeople with erythromelalgia, the disease is caused by a change (mutation) in a gene. (zana.com)
Rare2
- A rare condition that is known as erythromelalgia can cause a consistent, intense burning sensation in the feet. (toetalfamilyfootcare.com)
- Erythromelalgia is a rare foot condition, and its cause is unknown. (toetalfamilyfootcare.com)
Syndrome1
- Conclusion: Erythromelalgia is a syndrome with significantly increased mortality and morbidity compared with the US general population. (elsevierpure.com)
Idiopathic1
- Eltrombopag-associated erythromelalgia in idiopathic thrombocytopenic purpura. (medscape.com)
Bromocriptine1
- Dupont E, Illum F, Olivarius Bde F. Bromocriptine and erythromelalgia-like eruptions. (medscape.com)
Epidemic1
- Poxviruses isolated from epidemic erythromelalgia in China. (medscape.com)
Pain1
- Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain. (medlineplus.gov)
Subjects1
- Subjects: Patients with erythromelalgia examined at the Mayo Clinic, Rochester, Minn, between 1970 and 1994. (elsevierpure.com)
D0049161
- Mesh According to the MESH database (Medical Subject Headings), Erythromelalgia is classified under the unique ID number of D004916. (wikipedia.org)
Thrombosis1
- Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. (medscape.com)
Outcome1
- Natural history of erythromelalgia: presentation and outcome in 168 patients. (medscape.com)
Insights2
- DelveInsight's "Erythromelalgia- Market Insights, Epidemiology, and Market Forecast-2032" report delivers an in-depth understanding of the Erythromelalgia, historical and forecasted epidemiology as well as the Erythromelalgia market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. (usmarketnewslatest.com)
- The Erythromelalgia epidemiology division provide insights about historical and current Erythromelalgia patient pool and forecasted trend for every seven major countries. (usmarketnewslatest.com)
Patients2
- Primary erythromelalgia is defined by patients in whom no identifiable cause is found. (clinicalgate.com)
- Six patients (3.6%) had a first-degree relative with erythromelalgia. (elsevierpure.com)
Treatment3
- Treatment of erythromelalgia is warmth avoidance, rest, elevation of the extremity, and application of cold. (msdmanuals.com)
- The Erythromelalgia market report provides current treatment practices, emerging drugs, Erythromelalgia market share of the individual therapies, current and forecasted Erythromelalgia market Size from 2019 to 2032 segmented by seven major markets. (usmarketnewslatest.com)
- The Report also covers current Erythromelalgia treatment practice/algorithm, market drivers, market barriers and unmet medical needs to curate best of the opportunities and assesses the underlying potential of the market. (usmarketnewslatest.com)