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1.
Inn Med (Heidelb) ; 63(6): 591-600, 2022 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-35925129

RESUMO

Vascular acrosyndromes are characterized by sparse, uniform clinical manifestations and a variety of possible pathomechanisms. The present article focuses on the functional entities. Raynaud phenomenon is based on cold- or stress-induced vasospasms of acral arteries. It is defined by the color changes of the skin, in the typical case white-blue-red (tricolore). The long fingers are most commonly affected. The etiology is unknown, and the pathophysiology is poorly understood. A distinction is made between primary and a secondary Raynaud phenomenon. The most important underlying diseases include collagenosis, primarily systemic sclerosis, and malignancies; furthermore, medications and drugs may promote vasospasm. Treatment is aimed at preventing or breaking the vasospasm, but has been only partially effective in doing so. Acrocyanosis is a vasospastic dystonic acral disorder that results in permanent reddish-livid discoloration, especially of the hands and feet. Secondary forms occur in collagenosis, malignancies, and myelodysplastic syndromes. The etiology and pathophysiology are virtually unknown. Targeted pharmacological intervention is not possible. Unlike all other vascular acrosyndromes, erythromelalgia is characterized by hyperemia. The primary form is a genetic sodium channelopathy, while secondary forms include malignancies, connective tissue diseases, and myelodysplastic syndromes. The symptoms are often distressing and disabling. Therapy requires a multimodal approach that includes both nonpharmacological and pharmacological strategies. Close interdisciplinary collaboration is essential for the management of this disease.


Assuntos
Eritromelalgia , Síndromes Mielodisplásicas , Doença de Raynaud , Doenças Vasculares , Cianose/complicações , Eritromelalgia/complicações , Humanos , Síndromes Mielodisplásicas/complicações , Doença de Raynaud/diagnóstico , Doenças Vasculares/complicações
4.
Australas J Dermatol ; 63(3): e244-e246, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35510338

RESUMO

Red Ear Syndrome is an uncommon disorder that can affect all age groups. It is frequently referred to Dermatology as it can present similarly to erythromelalgia. Although the exact pathophysiology is unknown, a common hypothesis suggests a shared pathophysiological background with migraine due to their well-known association. Currently, there are no established treatment guidelines. Delays in accurate diagnosis and commencing optimal treatment can significantly negatively impact on a patients quality of life. We discuss the clinical presentation and response to treatment of a case of Red Ear Syndrome in an 8-year-old boy.


Assuntos
Otopatias , Eritromelalgia , Criança , Orelha , Otopatias/diagnóstico , Otopatias/etiologia , Eritromelalgia/diagnóstico , Humanos , Masculino , Qualidade de Vida , Síndrome
5.
A A Pract ; 16(4): e01582, 2022 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-35421007

RESUMO

Erythromelalgia is a rare neurovascular pain condition characterized by erythematous, warm, and painful extremities. Symptoms are exacerbated by heat and relieved by cooling. Treatment is challenging and focuses on symptom control with various medications and therapies targeted toward eliminating destructive cooling behaviors. This pediatric case was notable because the patient's pain dramatically improved after a short-term, low-dose ketamine infusion, allowing her to finally wean off detrimental cooling practices of her extremities. Intravenous ketamine has rarely been described as an adjunctive analgesic strategy for erythromelalgia.


Assuntos
Eritromelalgia , Ketamina , Analgésicos/uso terapêutico , Criança , Eritromelalgia/complicações , Eritromelalgia/diagnóstico , Eritromelalgia/tratamento farmacológico , Feminino , Humanos , Ketamina/uso terapêutico , Dor/tratamento farmacológico , Dor/etiologia , Manejo da Dor
10.
Pediatr Dermatol ; 39(1): 135-136, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34888934

RESUMO

Primary erythromelalgia is a rare autosomal-dominant condition due to pathogenic variant in the SCN9A gene, characterized by childhood onset of excruciating pain, redness, and warmth of acral sites. Patients often resort to ice water baths and other cooling measures to manage the discomfort. Hypothermia is a rare complication, reported only twice previously. We report a child with primary erythromelalgia due to a confirmed pathogenic variant admitted with life-threatening hypothermia. Although the overuse of cooling mechanisms may have contributed, we postulate that the SCN9A mutation may lead to thermodysregulation and make patients with primary erythromelalgia particularly susceptible to this complication.


Assuntos
Eritromelalgia , Hipotermia , Criança , Eritromelalgia/diagnóstico , Eritromelalgia/genética , Eritromelalgia/terapia , Humanos , Mutação , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Dor
12.
J Eur Acad Dermatol Venereol ; 36(1): 100-107, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34592031

RESUMO

BACKGROUND: Because typical and atypical features of small fibre polyneuropathy (SFN) in the skin have not been fully elucidated, the diagnosis is often made by the exclusion of alternative conditions rather than by its identification as a primary syndrome. OBJECTIVE: The objective of this study was to characterize dermatologic manifestations in patients with SFN. METHODS: Large retrospective series of biopsy-proven SFN cases seen at the Massachusetts General Hospital and Brigham and Women's Hospital (January 2000 to December 2019). RESULTS: The majority of the 301 participants included presented with at least one cutaneous manifestation [292/301 (97%)]. Pain was most common with 254/301 (84.4%) perceiving this as occurring in the skin. It was frequently described as 'burning' [95/254 (37.4%)] and affected distal [174/254 (68.5%)] slightly more than proximal [111/254 (43.7%)] limbs. Numbness [182/301 (60.5%)], edema [61/301 (20.3%)] and skin colour changes [53/301 (17.6%)], which include redness [23/53 (43%)], also had predominant distal distribution. Characteristic loss of distal hair occurred among 17/29 (59%) those reporting hair loss. Other findings with classic limb involvement, Raynaud's phenomenon [33/301 (11%)] and erythromelalgia [26/301 (8.6%)] were seen. Itch [45/301 (15%)], mostly localized [22/45 (49%)] and localized eczematous dermatitis were also found. CONCLUSION: SFN has a wide range of clinical features in which the skin is affected, with characteristic findings affecting the extremities.


Assuntos
Eritromelalgia , Polineuropatias , Biópsia , Eritromelalgia/diagnóstico , Eritromelalgia/epidemiologia , Eritromelalgia/etiologia , Feminino , Humanos , Polineuropatias/diagnóstico , Polineuropatias/epidemiologia , Estudos Retrospectivos , Pele
13.
Clin Exp Dermatol ; 47(4): 778-780, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34905256

RESUMO

Erythromelalgia is an infrequent syndrome with a profound impact on quality of life. Its management is usually challenging and multiple treatments have been reported with variable response rates. To the best of our knowledge, we present the first case of erythromelalgia successfully treated with topical oxymetazoline.


Assuntos
Eritromelalgia , Oximetazolina , Eritromelalgia/tratamento farmacológico , Humanos , Oximetazolina/uso terapêutico , Qualidade de Vida
14.
Ann Agric Environ Med ; 28(4): 569-574, 2021 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-34969212

RESUMO

The sensation of pain is common to both animals and human beings. Its threshold, intensity, tolerability, and characteristics are variable and depend on ethnicity, gender, stress exposure, co-existing mental disorders, such as depression or anxiety, social and economical background, as well as on genetic factors. It is estimated that about 5 and 20 percent of population suffer from acute and chronic pain, respectively, which results in the search for medical advice in healthcare facilities, and causes great expenses in health care budgets worldwide. Research aimed at identifying the causative agents of pain syndromes include single nucleotidepolymorphism (SNP), family history studies, twin siblings' genetic diversity studies, and recently, also a genome-wide association study (GWAS). Clinical syndromes of derangement of pain sensation are generally caused by single gene mutations (e.g. erythromelalgia and paroxysmal extreme pain disorder caused by mutations of SCN9A), but can also be associated with multiple gene mutations, as happens in migraine, fibromyalgia or hereditary sensory and autonomic neuropathies. Structural changes of proteins caused by gene mutations involve various cellular element, such as ion channels, receptors, scaffolding proteins, enzymes, transporting proteins, eventually leading to numerous clinical entities in which pain or its lack remain the leading symptoms. The sensation of pain is initiated by a stimulus, which activates the free nerve endings via chemical mediators, and the mechanical stimuli is then transmitted to the brain along the neurons and spinal tracts. Synaptic neurotransmitters and cell structures take part in this process and eventually affect the intensity of pain sensation.


Assuntos
Eritromelalgia , Estudo de Associação Genômica Ampla , Animais , Humanos , Mutação , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Dor/genética
15.
BMJ Case Rep ; 14(8)2021 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-34353840

RESUMO

Erythromelalgia is a rare hereditary channelopathy affecting the Nav1.7 sodium channel. Patients afflicted with this condition suffer from pain in their hands and feet, with vasomotor changes including flushing and redness to the distal upper and lower extremities. Current treatment modalities for this condition include pharmacological therapies (neuropathic medications), behavioural interventions, lumbar epidural infusions with local anaesthetics and sympathetic nerve blocks. Despite these treatments, many patients may have refractory pain. In these situations, there may be a role for dorsal column spinal cord stimulation for management of their pain. Here, we present the case of a 21-year-old man with 9-year history of refractory erythromelalgia successfully treated with paresthesia-free dorsal column spinal cord stimulation.


Assuntos
Eritromelalgia , Estimulação da Medula Espinal , Adulto , Anestésicos Locais , Eritromelalgia/terapia , Gânglios Espinais , Humanos , Masculino , Dor , Medula Espinal , Adulto Jovem
17.
Rev Esp Anestesiol Reanim (Engl Ed) ; 68(5): 293-296, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-34140126

RESUMO

Erythromelalgia (EM) is a rare autosomal dominant neuropathy characterized by the combination of severe burning pain and erythematous warm extremities. Chronic pain control is most often unsuccessful and a completely effective therapy is yet to be identified. Recent studies have reported significant improvements in pain management using a combination of amitriptyline and ketamine in a topical formulation. We describe a 1-year follow-up pain control success case of a male patient with EM, proposed for topical use of a 2% Amitriptyline and 0.5% Ketamine gel.


Assuntos
Eritromelalgia , Ketamina , Dor Intratável , Amitriptilina/uso terapêutico , Analgésicos/uso terapêutico , Combinação de Medicamentos , Eritromelalgia/tratamento farmacológico , Humanos , Ketamina/uso terapêutico , Masculino , Manejo da Dor
18.
Neurophysiol Clin ; 51(4): 349-355, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33888389

RESUMO

OBJECTIVE: To assess the contribution of large and small nerve fiber alteration in erythromelalgia (EM). METHODS: Thirty-three EM patients were included and underwent clinical evaluation based on EM severity score, DN4, and Utah Early Neuropathy Scale (UENS) score. Neurophysiological evaluation consisted in nerve conduction studies (NCS) for large nerve fibers and specific tests for small nerve fibers: electrochemical skin conductance, cold and warm detection thresholds, and laser evoked potentials. Finally, the evaluation of vascular changes was based on the presence of clinical feature of microvascular disorders and the measurement of the Toe Pressure Index (TPI). RESULTS: While 28 patients (85%) had vascular alteration on TPI or clinical features, 23 patients (70%) had small-fiber neuropathy on neurophysiological tests, and only 10 patients (30%) had large fiber neuropathy on NCS. Regarding clinical scores, there was no difference between groups (presence or absence of large- or small-fiber neuropathy or microvascular disorder) except for a higher UENS score in patients with large fiber neuropathy. CONCLUSION: Peripheral neuropathy, mostly involving small nerve fibers, is almost as common as microvascular changes in EM, but remains inconstant and not related to a specific neuropathic pattern or higher clinical severity. SIGNIFICANCE: The association of neuropathic and vascular factors is not systematic in EM, this syndrome being characterized by different pathophysiological mechanisms leading to a common clinical phenotype.


Assuntos
Eritromelalgia , Doenças do Sistema Nervoso Periférico , Eritromelalgia/complicações , Eritromelalgia/diagnóstico , Humanos , Fibras Nervosas , Exame Neurológico , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico , Índice de Gravidade de Doença
19.
Eur J Drug Metab Pharmacokinet ; 46(3): 395-404, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33782834

RESUMO

BACKGROUND: Vixotrigine is a voltage and use dependent sodium channel blocker currently under development for treatment of various neuropathic pain indications. OBJECTIVE: The objective of this work was to develop a population pharmacokinetic model and assess effects of various covariates on pharmacokinetic parameters of vixotrigine. METHOD: Plasma concentration-time data from 12 Phase 1 or 2 studies were included in the analyses. The data were obtained following administration of single or multiple doses of vixotrigine in healthy volunteers and patients. One- and two-compartment pharmacokinetic models were evaluated as base structural pharmacokinetic models. The inclusion of selected covariates was assessed using a stepwise backward elimination approach (α = 0.001) once the base/full model was developed. The predictive ability of the model was evaluated using a visual predictive check (VPC). The final model was used to evaluate effect of covariates on exposure of vixotrigine. RESULTS: A total of 10,263 pharmacokinetic samples collected from 465 subjects were included in the analyses. The pharmacokinetics of vixotrigine was adequately described by a two-compartment model with two transit absorption compartments and first-order elimination. Predictability of the model was also established by VPC. The final model included covariates of age, weight and carbamazepine co-administration on clearance, weight on central volume of distribution, food on absorption rate constant and formulation and Japanese race on bioavailability. None of the covariates identified had a clinically relevant effect, as impact on area under the plasma concentration-time curve (AUC) and maximum plasma concentration (Cmax) was within ± 25%. CONCLUSION: The model characterizes the pharmacokinetics of vixotrigine well, and the exposure of vixotrigine was comparable between healthy subjects and patients. None of the covariates evaluated have a clinically relevant impact on the pharmacokinetics of vixotrigine.


Assuntos
Modelos Biológicos , Éteres Fenílicos/farmacocinética , Prolina/análogos & derivados , Bloqueadores do Canal de Sódio Disparado por Voltagem/farmacocinética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Disponibilidade Biológica , Eritromelalgia/tratamento farmacológico , Feminino , Interações Alimento-Droga , Humanos , Masculino , Pessoa de Meia-Idade , Éteres Fenílicos/administração & dosagem , Prolina/administração & dosagem , Prolina/farmacocinética , Radiculopatia/tratamento farmacológico , Distribuição Tecidual , Neuralgia do Trigêmeo/tratamento farmacológico , Bloqueadores do Canal de Sódio Disparado por Voltagem/administração & dosagem , Adulto Jovem
20.
BMJ Case Rep ; 14(2)2021 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-33602765

RESUMO

A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with frequent episodes of a painful, markedly erythematous eruption associated with swelling. Evaluation revealed non-specific findings on skin biopsy at the time of eruption and no pathogenic mutation in the SCN9A gene. The patient was diagnosed with secondary erythromelalgia based on clinical presentation. Erythromelalgia is a rare disorder characterised by recurrent episodes of pain and erythema typically affecting the distal extremities. This case represents the first case of erythromelalgia in the setting of DiGeorge and CHARGE syndromes.


Assuntos
Coloboma , Eritromelalgia , Exantema , Cardiopatias Congênitas , Pré-Escolar , Humanos , Masculino , Canal de Sódio Disparado por Voltagem NAV1.7 , Dor
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