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OBJECTIVES: To determine the diagnostic value of anti-interferon gamma inducible protein 16 (IFI16) autoantibodies in systemic sclerosis (SSc) patients negative for all tested SSc-specific autoantibodies (SSc-seronegative patients) and to evaluate the clinical significance of these autoantibodies, whether isolated or in the presence of anti-centromere autoantibodies (ACA). METHODS: Overall, 58 SSc-seronegative and 66 ACA-positive patients were included in the study. All patients were tested for anti-IFI16 autoantibodies by an in-house direct ELISA. Associations between clinical parameters and anti-IFI16 autoantibodies were analysed. RESULTS: Overall, 17.2% of SSc-seronegative and 39.4% of ACA-positive patients were positive for anti-IFI16 autoantibodies. Anti-IFI16 autoantibodies were found only in patients within the limited cutaneous SSc (lcSSc) subset. A positive association between anti-IFI16 positivity and isolated pulmonary arterial hypertension (PAH) was found (odds ratio [OR]=5.07; p=0.014) even after adjusting for ACA status (OR=4.99; p=0.019). Anti-IFI16-positive patients were found to have poorer overall survival than negative patients (p=0.032). Cumulative survival rates at 10, 20 and 30 years were 96.9%, 92.5% and 68.7% for anti-IFI16-positive patients vs. 98.8%, 97.0% and 90.3% for anti-IFI16-negative-patients, respectively. Anti-IFI16-positive patients also had worse overall survival than anti-IFI16-negative patients after adjusting for ACA status in the multivariate Cox analysis (hazard ratio [HR]=3.21; p=0.043). CONCLUSION: Anti-IFI16 autoantibodies were associated with isolated PAH and poorer overall survival. Anti-IFI16 autoantibodies could be used as a supplementary marker of lcSSc in SSc-seronegative patients and for identifying ACA-positive patients with worse clinical outcome.
Subject(s)
Pulmonary Arterial Hypertension , Scleroderma, Systemic , Humans , Autoantibodies , Prognosis , Scleroderma, Systemic/complications , Scleroderma, Systemic/diagnosis , Proportional Hazards Models , Nuclear Proteins , PhosphoproteinsABSTRACT
La esclerosis sistémica sin escleroderma es una forma no común de compromiso sistémico de esta enfermedad, con ausencia de manifestaciones cutáneas. Presentamos el caso de una mujer de 71 años con índice de masa corporal (IMC) en 16,9 kg/m2, con historia de hipotiroidismo y estreñimiento crónico, quien acude a emergencia por dolor y distensión abdominal, asociado a náuseas. Se realizó una tomografía abdomino-pélvica encontrándose cámara gástrica colapsada, asas intestinales con algunos segmentos distendidos, con signos de fecalización de asa delgada. La colonoscopía describió dolicocolon severo. Se observaron placas induradas en codo derecho y en ambos glúteos. Los exámenes auxiliares: ANA 1/640 patrón centromérico, anticuerpos anticentrómero = 227 U/mL (valor normal - VN: 0-25), Anti SCL-70 = 1,9 U/mL (VN 0-25) y anti RNP = 0,1 U/mL (VN 0-25). La capilaroscopía de borde ungueal a 200x mostró megacapilares. El diagnóstico clínico fue esclerosis sistémica sin esclerodermia. Se inició tratamiento con dieta rica en fibra y nutrición parenteral por 1 semana. La evolución de la paciente fue favorable.
Systemic sclerosis sine Scleroderma is an uncommon form of systemic compromise of this disease, in the abscense of cutaneous manifestations. We present the case of a 71 years-old woman, body mass index (BMI) in 16.9 kg/m2, with history of hypothyroidism and chronic constipation, who goes to the emergency with pain, abdominal bloating, and nausea. An abdominopelvic tomography was made, reporting a collapse of the gastric chamber, some segments of intestinal loops distended with signs of fecalization in the small intestine. A colonoscopy described severe dolicocolon. We observed indurated plaques in left elbow and in both buttocks. Lab tests: ANA 1/640 with anticentromeric pattern, anticentromere antibodies = 227 U/mL (0-25), Anti-SCL-70 = 1.9 U/mL (0-25), anti-RNP = 0.1 U/mL (0-25). Peri-ungueal cappilaroscopy 200x showed mega capillaries. Clinical diagnosis was systemic sclerosis sine scleroderma. We initiated treatment with a high-fiber diet and parenteral nutrition for a week. The patient evolution was favorable.
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Introduction: Nailfold videocapillaroscopy is a non-invasive tool for the assessment of peripheral microcirculation, the main indication is the study of Raynaud's phenomenon, poorly standardized outside of this context. There is no clear information in real-life about the rea-sons for referral, the presence of clinical findings of autoimmune diseases, the frequency of patterns of autoantibodies, and specific capillaroscopic findings. Objective: The purpose of this survey is to describe the sociodemographic, clinical, paraclinical, and angioscopy findings of a cohort of subjects referred to a capillaroscopy service in North-western Colombia. Methods: A retrospective study was conducted, from 2015 to 2018. Categorical variables were expressed in frequency and percentage and quantitative variables in mean and standard deviation or median with interquartile range, depending on the distribution of the data. Results: A total of 318 capillaroscopies were performed for the first time. The main referral reason was Raynaud's phenomenon (n = 134; 42.1%). The most frequent baseline capillaroscopic pattern found was normal (n = 123; 38.7%). Of the 12 capillaroscopies that presented a non-specific pattern at a 6-month follow-up, only one (8.3%) progressed to a scleroderma pattern. In the subjects with systemic sclerosis, the most frequent clinical finding was sclerodactyly (n = 34; 37.8%), and 42/44 individuals (95.4%) had positive antinuclear antibodies; the most frequent pattern was centromere (n = 27; 64.3%) Conclusions: In a real-world setting, the main referral reason for capillaroscopy was Raynaud's phenomenon; more than a third of the subjects had normal capillaroscopic findings. Sclerodactyly was the most frequent clinical finding in patients with scleroderma capillaroscopic pattern.
Introducción: La videocapilaroscopia del lecho ungular es una herramienta no invasiva para la evaluación de la microcirculación periférica; la indicación principal es el estudio del fenómeno de Raynaud. Luego de una revisión de la literatura, no hay información clara sobre los motivos de remisión, presencia de hallazgos clínicos de enfermedades autoinmunes, frecuencia de patrones de autoanticuerpos y hallazgos capilaroscópicos específicos. Objetivo: Describir los hallazgos sociodemográficos, clínicos, paraclínicos y capilaroscópicos de sujetos remitidos a un servicio de capilaroscopia en el noroccidente colombiano. Métodos: Estudio retrospectivo de 2015 a 2018. Las variables categóricas se expresaron en frecuencias absolutas y porcentajes, y las variables cuantitativas en media y desviación estándar o mediana con rango intercuartílico, dependiendo de la distribución de los datos. Resultados: Se realizaron 318 capilaroscopias por primera vez. El principal motivo de remisión fue el fenómeno de Raynaud (n = 134; 42,1%). El patrón capilaroscópico basal más frecuente fue el normal (n = 123; 38,7%). De las 12 capilaroscopias que presentaron un patrón no específico en un seguimiento de seis meses, solo una (8,3%) progresó a un patrón de esclerodermia. En los sujetos con esclerosis sistémica, el hallazgo clínico más frecuente fue la esclerodactilia (n = 34; 37,8%), y 42/44 individuos (95,4%) tenían anticuerpos antinucleares positivos; el patrón más frecuente fue el centromérico (n = 27; 64,3%). Conclusiones: La razón principal de remisión para realizar una capilaroscopia fue el fenómeno de Raynaud; más de un tercio de los sujetos tenían hallazgos capilaroscópicos normales. La esclerodactilia fue el hallazgo clínico más frecuente en pacientes con patrón capilaroscópico de esclerodermia.
Subject(s)
Humans , Adolescent , Skin and Connective Tissue Diseases , Raynaud Disease , Scleroderma, Systemic , Thrombosis , Vascular Diseases , Cardiovascular Diseases , Connective Tissue Diseases , Diagnostic Techniques and Procedures , Microscopic Angioscopy , Diagnosis , MicroscopyABSTRACT
Resumen La esclerodermia pertenece a un grupo de enfermedades autoinmunes del tejido conectivo que produce inflamación, disfunción vascular y fibrosis excesiva del tejido de soporte de la piel y los órganos viscerales. A nivel bucal se presentan afecciones como la xerostomía y la microstomía, así como caries y enfermedad periodontal por dificultades en el control de la placa bacteriana. Su tratamiento odontológico requiere un manejo integral, que comprenda las patologías bucales presentes y los síntomas permanentes característicos de la enfermedad. Si bien es una patología muy infrecuente en la práctica general, es necesario enfatizar la importancia de que el odontólogo cumpla un rol multidisciplinario en el tratamiento de estos pacientes. Esta revisión narrativa tiene por objetivo describir las manifestaciones bucomaxilofaciales y el manejo odontológico del paciente con esclerodermia.
Abstract Scleroderma belongs to a group of autoimmune connective tissue diseases that causes inflammation, vascular dysfunction and excessive fibrosis of the supporting skin tissue and visceral organs. In the mouth, conditions such as xerostomia and microstomy are evident, as well as caries and periodontal disease due to difficulty in bacterial plaque control. Its dental treatment requires an integral management, which includes the oral pathologies present and the characteristic permanent symptoms of the disease. Although this pathology is not very common in the general practice, it is necessary to emphasize the importance of the dentist playing a multidisciplinary role in the treatment of these patients. This narrative review aims to describe the oral and maxillofacial manifestations and the dental management of patients with scleroderma.
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Introducción: la disfunción sexual (DS) es común entre las mujeres con enfermedades crónicas, incluyendo esclerosis sistémica (ES). Se ha asociado con características como la duración de la enfermedad, dolor, disminución de la actividad funcional, entre otras. Desde nuestro conocimiento, aún no contamos con datos locales. Objetivos: evaluar la frecuencia de DS en mujeres con ES; describir las características sociodemográficas, clínicas y psicológicas asociadas con la DS en mujeres con ES. Materiales y métodos: estudio observacional, analítico y de corte transversal. Se incluyeron mujeres de entre 20 y 59 años con diagnóstico de ES, según los criterios de clasificación del European League Against Rheumatism/American College of Rheumatology (ACR/EULAR 2013). Se excluyeron pacientes con enfermedades crónicas no controladas, otras patologías reumatológicas autoinmunes, e inactividad sexual o patología genitourinaria no relacionadas a ES en las últimas 4 semanas. La DS se evaluó con la versión en español del cuestionario índice de función sexual femenina (Female sexual function index, FSFI). Resultados: se incluyeron 56 pacientes. El 78,57% presentó DS y 19,64% era sexualmente inactiva debido a la enfermedad. Escala visual análoga (EVA) de fatiga (coeficiente β: -0,08, IC 95%: -0,14 a -0,02; p<0,01), edad (coeficiente β: -0,23, IC 95%: -0,40 a -0,05; p=0,01) y fibromialgia (coeficiente β: -11,90, IC 95%: -17,98 a -5,82; p<0,01) mostraron una asociación significativa e independiente con DS en el análisis multivariado. Conclusiones: la DS es frecuente entre las mujeres con ES, y las pacientes más jóvenes, sin fibromialgia y con menor fatiga presentaron una mejor funcionalidad sexual.
Introduction: sexual impairment (SI) is common among women with chronic diseases, including systemic sclerosis (SSc). It has been associated with characteristics such as the duration of the disease, pain, decreased functional activity, among others. To the best of our knowledge, we still do not have local data. Objectives: to evaluate the frequency of SI in women with SSc. To describe the sociodemographic characteristics, disease itself and psychological items associated with SI in women with SSc. Materials and methods: observational, analytical, cross-sectional study. We included women between 20 and 59 years diagnosed with SSc according to 2013 classification criteria ACR/EULAR. We excluded patients with uncontrolled chronic diseases or other autoimmune rheumatologic diseases and patients who, in the last 4 weeks, had dyspareunia or were sexually inactive due to causes not attributable to their disease. SI was assessed using the Spanish version of female sexual function index questionnaire (FSFI). Results: 56 patients were included. 78.57% presented SI and 19.64% of them were sexually inactive patients due to the disease. Fatigue VAS (β coefficient: -0.08, CI 95%: -0.14 to -0.02; p<0.01), age (β coefficient: -0.23, CI 95%: -0.40 to -0.05; p=0.01) and fibromyalgia (β coefficient: -11.90, CI 95%: -17.98 to -5.82; p<0.01) showed significant and independent association with SI in the multivariate analysis. Conclusions: SI is frequent among women with SSc, and younger patients, without fibromyalgia and with less fatigue have better sexual function.
Subject(s)
Female , Sexual Behavior , Sexual Dysfunction, Physiological , SexualityABSTRACT
Racional: Esclerose sistêmica (ES) e lúpus eritematoso sistêmico (LES) são doenças difusas do tecido conjuntivo que, quando agregadas, geram a síndrome de sobreposição (SP ES-LES), condição ainda não claramente caracterizada do ponto de vista clínico e epidemiológico. Objetivo: Caracterizar clínica e epidemiologicamente pacientes com SP ES-LES. Método: Trata-se de um estudo retrospectivo, descritivo de análise de prontuários. Coletaram-se dados demográficos, clínicos, laboratoriais e exames de imagens de pacientes com SP ES-LES.Resultados: O perfil encontrado foi o de mulher, jovem, caucasiana, não tabagista e com forma de limitada de ES. Foram comuns: fenômeno de Raynaud; acometimento gastroesofágico, pulmonar e cutâneo; anemia; linfopenia; FAN pontilhado grosso; anti-RNP; anti-Ro e anti-Sm. Nunca ter fumado foi achado protetor para serosite e lesões discoides, como também foram significativas associações anti-Scl-70 com lúpus discoide, anti-La com síndrome de Sjögren e anti-DNA com úlceras digitais. Conclusão: A SP ES-LES é multissistêmica, com aspectos clínicos predominantes de ES. Devido à grande prevalência de envolvimento pulmonar nesses pacientes, justifica-se o rastreamento de possíveis complicações.
Background: Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are diffuse autoimmune diseases of the connective tissue that when combined generate the SSc-SLE overlap syndrome (OS), condition without consistent epidemiological data. Objective: Characterize clinical and epidemiological data in patients with OS SSc-SLE. Method: This is a retrospective descriptive study of medical records. Demographic, clinical, laboratory data and image exams of older patients with SSc-SLE were collected. Results: Epidemiological profile was of female patients, young, caucasian, non-smoker with limited ES. Raynaud's phenomenon, gastroesophageal, pulmonary and skin disorders, anemia and lymphopenia were common as well as thick dotted ANA; anti-RNP; anti-Ro and anti-Sm. No smoking was protective for serositis and for discoid lesions, as well as significant associations of anti-Scl-70 with discoid lupus, anti-La with Sjogren's syndrome and anti-DNA with digital ulcers were found. Conclusion: OS SSc-SLE is multisystemic with clinical predominance of SSc. Due to high prevalence of lung involvement, screening for such possible complication is justified.
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A esclerodermia cursa com espessamento importante da pele, o qual pode afetar a mobilidade e função das mãos. O objetivo deste estudo foi avaliar o acometimento das mãos em pacientes com esclerodermia sistêmica. É estudo transversal de 43 pacientes com esclerodermia para dados clínicos e epidemiológicos, presença de STC (síndrome de túnel do carpo), força da mão medida pelo dinamômetro Jamar®, e função da mão pelos questionários de Hamis e Cochin. Estes pacientes foram comparados com 43 controles. Em conclusão, pacientes de esclerodermia têm pior função da mão do que controles. A presença de queixas musculoesqueléticas afeta destreza e força da mão, enquanto que a presença de STC influencia na presença de parestesias. O grau de envolvimento cutâneo e a forma da esclerodermia não modificaram a função da mão.
Scleroderma progresses with significant thickening of the skin, which can affect the mobility and function of the hands. The aim of this study was to evaluate the involvement of the hands in patients with systemic scleroderma. It is a cross-sectional study of 43 patients with scleroderma for clinical and epidemiological data, presence of CTS (carpal tunnel syndrome), hand strength measured by the Jamar® dynamometer, and hand function by the Hamis and Cochin questionnaires. These patients were compared with 43 controls. In conclusion, scleroderma patients have worse hand function than controls. The presence of musculoskeletal complaints affects dexterity and hand strength, while the presence of CTS influences the presence of paresthesias. The degree of skin involvement and the form of scleroderma did not change hand function.
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ABSTRACT Introduction: Systemic sclerosis can involve the lung parenchyma leading to serious complications and even death. Objectives: To describe the most relevant aspects of interstitial lung disease related to systemic sclerosis emphasizing diagnosis and treatment. Materials and methods: A literature review was performed searching in the databases Medline and EMBASE using the MeSH terms «Scleroderma, Systemic", «Lung Diseases, Interstitial¼ and «Pulmonary Fibrosis¼ Results and conclusions: Interstitial lung disease is a common clinical manifestation of systemic sclerosis and one of the main causes of death. Treatment options are limited and have a modest effect in most of the cases.
RESUMEN Introducción: La esclerosis sistémica puede potencialmente comprometer el parénquima pulmonar, llevando a serias complicaciones e incluso a la muerte. Objetivos: Describir los aspectos más relevantes en cuanto a las generalidades de la enfermedad pulmonar intersticial en esclerosis sistémica, su diagnóstico y su tratamiento. Materiales y métodos: Se realizó una búsqueda de literatura en las bases de datos Medline y EMBASE utilizando los términos MeSH «Scleroderma, Systemic¼, «Lung Diseases, Interstitial¼ y «Pulmonary Fibrosis¼. Resultados y conclusiones: La enfermedad pulmonar intersticial es una manifestación frecuente de la esclerosis sistémica y una de las principales causas de muerte en los pacientes que la padecen. Las opciones terapéuticas son limitadas y su efecto es, en muchos casos, modesto.
Subject(s)
Humans , Male , Aged , Aged, 80 and over , Scleroderma, Systemic , Lung Diseases, Interstitial , Therapeutics , Cause of Death , Diagnosis , LungABSTRACT
ABSTRACT Background: Systemic sclerosis is an autoimmune and multisystemic disease characterized by vascular involvement and fibrosis that mainly affects the skin and internal organs; its morbidity and mortality are the highest of rheumatic diseases. Objective: To determine the sociodemographic, clinical, and paraclinical characteristics of adult patients with systemic sclerosis in a reference center in rheumatology in northwestern Colombia, between 2006 and 2016. Methods: A retrospective descriptive study was conducted. Information on sociodemographic, clinical, and paraclinical variables was collected from the review of medical records. The data were processed with the IBM SPSS 22 statistical package. The qualitative variables were expressed in absolute and relative frequencies and the quantitative variables in mean and standard deviation or median and interquartile range, according to their distribution. Results: 44 patients were included, predominantly women (90.9%), with an average age of 59 years; the most common variety was the limited (61.3%). One hundred percent of the subjects presented Raynaud's phenomenon and the most common compromised systems were: cutaneous (100%), musculoskeletal (59.1%), and gastrointestinal (50%). 95.5% of the patients fulfilled the diagnostic criteria ACR / EULAR 2013. Regarding the immunological profile, 72.7% of the individuals had positive antinuclear antibodies, of which 53.1% had a centromeric pattern. Conclusions: Sociodemographic, clinical and similar characteristics were found in this cohort, according to what was published in the literature. The most frequent extracutaneous systems involved were: musculoskeletal, gastrointestinal, and pulmonary, which cause a large part of the associated morbidity, as well as a decrease in quality of life.
RESUMEN Introducción: La esclerosis sistémica es una enfermedad autoinmune y multisistémica, caracterizada por vasculopatía y fibrosis que afecta principalmente la piel y órganos internos; su morbilidad y mortalidad son las más altas de las enfermedades reumatológicas. Objetivo: Determinar las características sociodemográficas, clínicas y paraclínicas de pacientes adultos con esclerosis sistémica en un centro de referencia en reumatología del noroccidente de Colombia, entre el 2006 y el 2016. Métodos: Estudio descriptivo retrospectivo. La información sobre las variables sociodemográficas, clínicas y paraclínicas se recogió de la revisión de registros médicos. Los datos se procesaron con el paquete estadístico IBM SPSS 22. Las variables cualitativas se expresaron en frecuencias absolutas y relativas y las cuantitativas en media y desviación estándar o mediana y rango intercuartílico, según su distribución. Resultados: Se incluyeron 44 pacientes, predominantemente mujeres (90,9%), con una edad promedio de 59 arios; la variedad más común fue la limitada (61,3%). El 100% de los sujetos presentaron el fenómeno de Raynaud y los sistemas comprometidos con mayor frecuencia fueron: cutáneo (100%), musculoesquelético (59,1%) y gastrointestinal (50%). El 95,5% de los pacientes cumplieron con los criterios diagnósticos ACR/EULAR 2013. Con respecto al perfil inmunológico, el 72,7% de los individuos tenía anticuerpos antinucleares positivos, de los cuales, un 53,1% tenía un patrón centromérico. Conclusiones: Se encontraron características sociodemográficas y clínicas similares en esta cohorte, de acuerdo a lo publicado en la literatura. Los sistemas extracutáneos más frecuentemente involucrados fueron: musculoesquelético, gastrointestinal y pulmonar, que causan una gran parte de la morbilidad asociada, así como una disminución en la calidad de vida.
Subject(s)
Humans , Female , Adult , Middle Aged , Aged , Patients , Scleroderma, Systemic , Adult , Autoimmune Diseases , Epidemiology, DescriptiveABSTRACT
ABSTRACT Mounting evidence has shown non-systemic sclerosis (SSc) related complications as a rising cause of hospital admission and mortality, out of which infections are among the top-five causes. Patients with SSc are at an increased risk of infection due to several features of the treatment options and to the disease itself. For instance, lung involvement is associated with a higher frequency of respiratory infections, whereas the presence of digital ulcers or calcinosis may result in skin and soft tissue infections, and even osteomyelitis. On the other hand, the growing trend towards immunomodulation and immunosuppression in patients with autoimmune diseases will place SSc patients at a higher risk of infectious complications, including opportunistic infections. A low suspicion threshold and an increasing awareness among treating specialists, particularly rheumatologists, are warranted for prevention, early diagnosis and management of infectious complications. Nonetheless, data on risk management strategies in SSc, such as vaccination and antimicrobial prophylaxis, are scarce. A narrative non-systematic review was performed to provide an update of infectious complications in patients with SSc.
RESUMEN La evidencia creciente muestra que las complicaciones no asociadas a la esclerosis sistémica (ES) son una causa cada vez más frecuente de hospitalización y mortalidad, dentro de las cuales las infecciones se encuentran entre las primeras cinco causas. Los pacientes con ES presentan un riesgo elevado de infección asociado con las opciones terapéuticas y con la enfermedad misma. Por ejemplo, el compromiso pulmonar se asocia con una mayor frecuencia de infecciones respiratorias, mientras que la presencia de úlceras digitales o calcinosis pueden resultar en infecciones de piel y tejidos blandos, incluso en osteomielitis. Por otro lado, la tendencia creciente hacia la inmunomodulación y la inmunosupresión, como tratamiento de las enfermedades autoinmunes, pondrá a estos pacientes en un mayor riesgo de infecciones, incluidas las infecciones oportunistas. Son necesarios un umbral bajo de sospecha y un alto nivel de alerta entre las especialidades tratantes, particularmente los reumatólogos, para la prevención, el diagnóstico temprano y el manejo de las complicaciones infecciosas. Sin embargo, la información respecto a estrategias de gestión de riesgo en ES, como la vacunación o la profilaxis antibiótica, es escasa. Se realizó una revisión narrativa no sistemática que presenta una actualización sobre las complicaciones infecciosas en pacientes con ES.
Subject(s)
Humans , Scleroderma, Systemic , Infections , Autoimmune Diseases , Risk , CausalityABSTRACT
A Esclerose Sistêmica é uma doença autoimune sistêmica, progressiva, de etiologia desconhecida e relativamente rara. Caracteriza-se pela excessiva deposição de colágeno no tecido conjuntivo, pelo espessamento da pele, comprometimento de órgãos nobres internos e do sistema estomatognático. Objetivo: Caracterizar o frênulo e os aspectos da língua de indivíduos com esclerose sistêmica. Método: Trata-se de um estudo exploratório clínico, observacional, do tipo relato de casos. Foi realizada avaliação clínica do frênulo e dos aspectos da língua com um grupo de estudo composto por onze sujeitos, de ambos os sexos, oriundos do serviço de Reumatologia do Hospital Universitário em parceria com o grupo de estudo em motricidade orofacial, ambos da Universidade Federal de Sergipe, e de um grupo controle pareado em número, idade e sexo, sem doenças reumáticas, selecionados por conveniência. O período de coleta dos dados foi de três meses (de setembro a dezembro de 2017). Resultados: A amostra do grupo de estudo revelou alterações clínicas na espessura, no tamanho e na coloração do frênulo, como também nos aspectos da língua de indivíduos com esclerose sistêmica, tais como hipertonia, alteração do formato da ponta da língua quando em elevação, telangiectasia entre outros de menor ocorrência. Conclusão: As características alteradas do frênulo e da língua dos sujeitos com essa afecção evidenciam o comprometimento do sistema estomatognático e a importância da atuação fonoaudiológica na Reumatologia.
Systemic sclerosis is a progressive, systemic autoimmune disease of unknown and relatively rare etiology. It is characterized by excessive deposition of collagen in the connective tissue, by the thickening of the skin, involvement of internal noble organs and the stomatognathic system. Objective: To characterize the frenulum and aspects of the tongue of individuals with systemic sclerosis. Method: This is a clinical, observational, case-report exploratory study. A clinical study of the frenum and aspects of the tongue was carried out with a study group composed of eleven subjects, of both sexes from the Rheumatology Department of the University Hospital in partnership with the study group on orofacial motor, both from the Federal University of Sergipe, and a control group matched in number, age and sex, without rheumatic diseases, selected for convenience. The data collection period was three months (from September to December 2017). Results: The study group sample revealed clinical changes in the thickness, size and color of the lingual frenum, as well as in the language aspects of individuals with systemic sclerosis, such as hypertonia, altered tongue tip shape when elevated, telangiectasia among others with lesser occurrence. Conclusion: The altered characteristics of the frenulum and the tongue of the subjects with this affection evidences the impairment of the stomatognathic system and the importance of Speech, Language and Hearing Sciences performance in Rheumatology.
La Esclerosis Sistémica es una enfermedad autoinmune sistémica, progresiva, de etiología desconocida y relativamente rara. Se caracteriza por la excesiva deposición de colágeno en el tejido conjuntivo, por el espesamiento de la piel, comprometimiento de órganos nobles internos y del sistema estomatognático. Objetivo: Caracterizar el frenillo y los aspectos de la lengua de individuos con esclerosis sistémica. Metodo: Se trata de un estudio exploratorio clínico, observacional, del tipo relato de casos. Se realizó una evaluación clínica del frenillo y de los aspectos de la lengua con un grupo de estudio compuesto por once sujetos, de ambos sexos, oriundos del servicio de Reumatología del Hospital Universitario en asociación con el grupo de estudio en motricidad orofacial, ambos de la Universidad Federal de Sergipe y de un grupo control pareado en número, edad y sexo, sin enfermedades reumáticas, seleccionados por conveniencia. El período de recolección de datos fue de tres meses (de septiembre a diciembre de 2017). Resultados: La muestra del grupo de estudio reveló alteraciones clínicas en el grosor, el tamaño y la coloración del frenillo, así como en los aspectos de la lengua de individuos con esclerodermia sistémica, tales como hipertonía, alteración del formato de la punta de la lengua cuando en elevación, telangiectasia entre otros de menor ocurrencia. Conclusión: Las características alteradas del frenillo lingual de los sujetos con esa afección evidencian el deterioro del sistema estomatognático y la importancia de la actuación fonoaudiológica en la Reumatología.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Scleroderma, Systemic , Clinical Diagnosis , Speech, Language and Hearing Sciences , Lingual FrenumABSTRACT
Objectives: To determine the diagnostic value of anti-interferon gamma inducible protein 16 (IFI16) autoantibodies in systemic sclerosis (SSc) patients negative for all tested SSc-specific autoantibodies (SSc-seronegative patients) and to evaluate the clinical significance of these autoantibodies, whether isolated or in the presence of anti-centromere autoantibodies (ACA). Methods: Overall, 58 SSc-seronegative and 66 ACA-positive patients were included in the study. All patients were tested for anti-IFI16 autoantibodies by an in-house direct ELISA. Associations between clinical parameters and anti-IFI16 autoantibodies were analysed. Results: Overall, 17.2% of SSc-seronegative and 39.4% of ACA-positive patients were positive for anti-IFI16 autoantibodies. Anti-IFI16 autoantibodies were found only in patients within the limited cutaneous SSc (lcSSc) subset. A positive association between anti-IFI16 positivity and isolated pulmonary arterial hypertension (PAH) was found (odds ratio [OR]=5.07; p=0.014) even after adjusting for ACA status (OR=4.99; p=0.019). Anti-IFI16-positive patients were found to have poorer overall survival than negative patients (p=0.032). Cumulative survival rates at 10, 20 and 30 years were 96.9%, 92.5% and 68.7% for anti-IFI16-positive patients vs. 98.8%, 97.0% and 90.3% for anti-IFI16-negative-patients, respectively. Anti-IFI16-positive patients also had worse overall survival than anti-IFI16-negative patients after adjusting for ACA status in the multivariate Cox analysis (hazard ratio [HR]=3.21; p=0.043). Conclusion: Anti-IFI16 autoantibodies were associated with isolated PAH and poorer overall survival. Anti-IFI16 autoantibodies could be used as a supplementary marker of lcSSc in SSc-seronegative patients and for identifying ACA-positive patients with worse clinical outcome. (AU)
Objetivos: Determinar el valor diagnóstico de los autoanticuerpos anti-interferon gamma inducible protein 16 (IFI16) en los pacientes con esclerodermia sistémica (SSc) negativos para todos los autoanticuerpos específicos de SSc (pacientes SSc seronegativos) y evaluar el significado clínico de estos autoanticuerpos, aislados o en combinación con autoanticuerpos anticentrómero (ACA). Métodos: Se incluyeron 58 pacientes SSc seronegativos y 66 pacientes ACA positivos. Todos los pacientes se testaron para los autoanticuerpos anti-IFI16 mediante un ELISA directo «in-house». Las asociaciones entre parámetros clínicos y los autoanticuerpos anti-IFI16 fueron analizadas. Resultados: En total, el 17,2% de los pacientes SSc seronegativos y el 39,4% de los pacientes ACA positivos fueron positivos para anti-IFI16. Los autoanticuerpos anti-IFI16 se detectaron solamente en los pacientes con la forma limitada cutánea de SSc (lcSSc). Se encontró una asociación entre la positividad de anti-IFI16 y la hipertensión arterial pulmonar (HAP) aislada (odds ratio [OR]: 5,07; p=0,014), incluso cuando se ajustó el análisis a la presencia o ausencia de ACA (OR: 4,99; p=0,019). Los pacientes anti-IFI16 positivos mostraron una peor supervivencia general que los pacientes negativos (p=0,032). Las ratios de supervivencia acumulada a 10, 20 y 30 años fueron respectivamente del 96,9, 92,5 y 68,7% para los pacientes anti-IFI16 positivos frente al 98,8, 97,0 y 90,3% para los anti-IFI16 negativos. Los pacientes anti-IFI16 positivos también tenían una supervivencia general menor que los pacientes anti-IFI16 negativos tras ajustar para la presencia o ausencia de ACA mediante análisis multivariado de Cox (hazard ratio [HR]: 3,21; p=0,043)... (AU)
Subject(s)
Humans , Scleroderma, Systemic , Autoantibodies , Prognosis , Hypertension , MortalityABSTRACT
ABSTRACT Scleroderma is an autoimmune disease that affects multiple systems. While pathophysiologic mechanisms governing the development of scleroderma are relatively poorly understood, advances in our understanding of the complement system are clarifying the role of complement pathways in the development of atypical hemolytic uremic syndrome and scleroderma renal crisis. The abundant similarities in their presentation as well as the clinical course are raising the possibility of a common underlying pathogenesis. Recent reports are emphasizing that complement pathways appear to be the unifying link. This article reviews the role of complement system in the development of atypical hemolytic uremic syndrome and scleroderma renal crisis, and calls for heightened awareness to the development of thrombotic angiopathy in patients with scleroderma.
RESUMO A esclerodermia é uma doença autoimune que afeta múltiplos sistemas. Embora os mecanismos fisiopatológicos que regem o desenvolvimento da esclerodermia sejam relativamente pouco compreendidos, os avanços em nossa compreensão do sistema do complemento estão esclarecendo o papel das vias do complemento no desenvolvimento da síndrome urêmica hemolítica atípica e da crise renal da esclerodermia. As abundantes semelhanças em sua apresentação, bem como o curso clínico, estão aumentando a possibilidade de uma patogênese subjacente comum. Relatórios recentes estão enfatizando que as vias de complemento parecem ser o link unificador. Este artigo analisa o papel do sistema do complemento no desenvolvimento da síndrome urêmica hemolítica atípica e da crise renal na esclerodermia, e exige maior conscientização para com o desenvolvimento da angiopatia trombótica em pacientes com esclerodermia.
Subject(s)
Humans , Scleroderma, Systemic/immunology , Complement Activation , Acute Kidney Injury/physiopathology , Acute Kidney Injury/immunology , Atypical Hemolytic Uremic Syndrome/physiopathology , Atypical Hemolytic Uremic Syndrome/immunology , Scleroderma, Systemic/physiopathologyABSTRACT
Abstract Introduction: Systemic sclerosis (SSc) is an autoimmune disease of the connective tissue that is clinically characterized by dermal thickening, which occurs due to the accumulation of connective tissue, and may involve other organs and the limbs. The multifactorial etiology of this disease is related to alterations in remodeling interactions of the extracellular matrix (ECM), immune function and presence of proliferative vasculopathy under genetic and environmental influence. Objective: To conduct a literature review on medical and surgical management from the point of view skin, hand and finger lesions surgery, as well as facial alterations in patients with systemic scleroderma. Materials and methods: A bibliographic search was performed in the Medline, LILACS, PubMed, EMBASE and Current Contents databases, using the keywords "systemic scleroderma", "plastic surgery", "hand" and "ulcers". Results: SSc requires a multidisciplinary management, since pharmacological therapy is indicated for some cases and complementary surgical management is better for others. Conclusion: This pathology significantly affects the skin by causing lesions ranging from digital ulcers to facial atrophy, which are susceptible to management by plastic surgery.
Resumen Introducción. La esclerosis sistémica (ES) es una enfermedad autoinmune del tejido conectivo que se caracteriza clínicamente por un engrosamiento cutáneo, el cual se da debido a la acumulación de tejido conectivo y puede afectar a otros órganos y a las extremidades. La etiología multifactorial de esta enfermedad corresponde a la interacción de alteraciones en el remodelamiento de la matriz extracelular, función inmunitaria y presencia de vasculopatía proliferativa bajo influencia genética y medioambiental. Objetivo. Realizar una revisión sobre el manejo médico y quirúrgico desde el punto de vista de la cirugía plástica de las lesiones en piel y manos y las alteraciones faciales de los pacientes con ES. Materiales y métodos. Se realizó una búsqueda bibliográfica en las bases de datos Medline, LILACS, PubMed, EMBASE y Current contents con las palabras claves esclerodermia sistémica, cirugía plástica, mano y ulceras. Resultados. La ES requiere manejo multidisciplinario; se presentan casos en los que se indica terapia farmacológica y otros en los que el manejo es quirúrgico complementario. Conclusión. Esta patología afecta de manera importante la piel al provocar lesiones que van desde ulceras digitales hasta atrofia facial, las cuales son susceptibles de manejo por el área de cirugía plástica.
ABSTRACT
La esclerodermia pertenece a un grupo de enfermedades autoinmunes del tejido conectivo, que produce: inflamación, disfunción vascular y fibrosis excesiva del tejido conectivo de soporte de la piel y los órganos viscerales. A nivel bucal se evidencian afecciones como xerostomía, microstomía, caries y enfermedad periodontal. El tratamiento odontológico requiere un manejo integral por parte de los profesionales, que comprenda las patologías orales presentes y los síntomas permanentes característicos de la enfermedad sistémica de base. El objetivo de este artículo es presentar dos casos de esclerodermia resaltando sus manifestaciones orales presentes.
Scleroderma belongs to a group of autoimmune connective tissue diseases that causes inflammation, vascular dysfunction and excessive fibrosis of the connective tissue supporting the skin and visceral organs. A level oral conditions such as xerostomia, microstomia, caries and periodontal disease are evident. Dental treatment requires a comprehensive management by professionals who understand oral pathologies and permanent characteristic symptoms of systemic disease. The aim of this paper is to present two cases of scleroderma highlighting present oral manifestations.
ABSTRACT
La calcinosis es una manifestación frecuente en la esclerodermia sistémica. Sin embargo, la calcinosis pseudotumoral es de presentación excepcional. Las radiografías o tomografía axial computada son de utilidad para el diagnóstico y el seguimiento. Aunque no existe un tratamiento estandarizado efectivo, la remoción quirúrgica de las lesiones sintomáticas y algunos fármacos son útiles en algunos enfermos. Se presenta el caso de una paciente de 23 años con esclerodermia sistémica variedad limitada que desarrolló múltiples lesiones pseudotumorales.
Soft tissue calcinosis is a common cutaneous manifestation in systemic sclerosis. However, pseudotumoral calcinosis is rare. Radiographs or computed tomography are useful tools to diagnose and assess this condition. Although no treatment was uniformly effective, surgical excision of symptomatic lesions and medical treatment provided benefit for some patients. We report here a case of a 23 year old woman, suffering from limited cutaneous systemic sclerosis, who developed many pseudo tumoural calcinosis lesions.
Subject(s)
Humans , Female , Young Adult , Calcinosis/etiology , Calcinosis , Scleroderma, Systemic/complications , Scleroderma, Limited/complicationsABSTRACT
La esclerodermia sistémica (ES) puede asociarse con otros trastornos del tejido conectivo, como dermatomiositis o poliomiositis, síndrome de Sjôgren, artritis reumatoide y lupus eritematoso sistémico. Con menos frecuencia se ha descrito asociación con lupus eritematoso cutáneo discoide(LECD). Cuando un mismo paciente cumple simultáneamente los criterios para dos o más enfermedades del tejido conectivo, se realiza el diagnóstico de síndrome de superposición (SS). Presentamos el caso de una mujer de 32 años, que consultó por presentar placas deprimidas hipopigmentadas en zonas fotoexpuestas de 2 años de evolución, y fenómeno de Raynaud (FR) de 1 año de evolución. Además, telangiectasias en tronco, labios y cara. En manos se observan úlceras digitales dolorosas en pulpejos de los dedos, edema, esclerodactilia y esclerosis del dorso. En laboratorio destacó ANA (1/80 con patrón moteado), perfil ENA (133 con anticuerpo anti-Ro/SS-A en 47) y biopsia de piel compatible con lupus discoide. Se diagnostica SS cutáneosistémico, con LECD y ES limitada. Se realiza una breve revisión bibliográfica de los casos publicados con esta asociación, con un total de 20 casos reportados al año 2010. Las enfermedades reumatológicas pueden manifestarse inicialmente de manera inespecífica, presentando clínica común entre ellas, como es el caso del FR. Es por esta razón que es relevante determinar un diagnóstico en forma temprana, para definir el manejo y búsqueda de complicaciones asociadas a este. Pese a esto el diagnóstico puede ir modificándose en el tiempo principalmente por la aparición de nueva sintomatología.
Systemic Scleroderma (SS) can be associated to other connective tissue disordes such as Dermatomyositis, Polymiositis, Sjogren Syndrome, Rheumatoid Arthritis and Systemic Erythematosus Lupus. With less frecuency the association to Cutaneus Discoid Erithematosus Lupus (CDEL) has been described. When the same patient presents two or more criteria for a connective tissue disorder Overlap Syndrome (OS) is diagnosed. We present the case of a 32 year-old woman that consulted by presenting hypopigmented depressed plates in sun-exposed áreas for two years and Raynaud phenomenon (RPh) for one year. Also she had chest , lips and facial telangiectasia. She presented painful digital ulcers in her finger pads and edema, sclerodactyly and dorsal sclerosis. Laboratory findings showed ANA (1/80 motted pattern ) , ENA profile ( 133 with anti-Ro/SS-A in 47 ) and a cutaneous biopsy compatible with Discoid Lupus. The diagnosis was Cutaneo-Systemic OS with DCEL and limited SS. In this context we made a bibliographyc review of this published association finding a total of 20 cases in year 2010. Rheumatologic diseases can initially manifest in inespecific ways showing common clinical findings such as RPh. This is why it is relevant to make an early diagnosis in order to define treatment and search for associated complications. Despite this the diagnosis can be modified in time mostly because of the appearance of new symtoms.
ABSTRACT
El síndrome de CREST se caracteriza por calcinosis, síndrome de Raynaud, dismotilidad esofágica, esclerodactilia y telangiectasia. Presenta signos y síntomas en el sistema estomatognático que merecen consideración en un tratamiento. El objetivo del presente artículo fue reportar las manifestaciones orales de un caso de síndrome de CREST y describir su tratamiento protésico realizado en el Departamento de Rehabilitación Oral de la Universidad Nacional de Colombia. Se reporta una paciente mujer de 42 años, con diagnóstico de síndrome de CREST por su médico tratante, que acude a la facultad de odontología para un tratamiento restaurador. El manejo prostodóntico incluyó coronas, prótesis parcial fija metal-cerámicas y prótesis parcial removible. Los resultados obtenidos nos permiten recomendar las alternativas restaurativas convencionales similares a las usadas en un paciente sin esta condición sistémica, pero manteniendo un control estricto.
The CREST syndrome is characterized by calcinosis, Raynaud's syndrome, esophageal dysmotility, sclerodactyly, and telangiectasia. It has signs and symptoms in the stomatognathic system that deserve consideration in its treatment. The objective of this paper is to report the oral manifestations of a case of CREST syndrome and describe the prosthetic treatment performed in the Department of Oral Rehabilitation in the National University of Colombia. The case is presented of a patient female aged 42 years, diagnosed with CREST syndrome by the treating doctor. She came to the Faculty of Dentistry for restorative treatment. The prosthodontic management included metal-ceramic crowns, fixed partial denture, and removable partial denture. The results demonstrate that conventional restorative alternatives, similar to that used in a patient without this systemic condition, while maintaining strict control of it, can be recommended.
Subject(s)
Humans , Female , Adult , Dental Prosthesis , CREST Syndrome/complications , Mouth Diseases/etiology , Mouth Diseases/rehabilitation , ProsthodonticsABSTRACT
El fenómeno de Raynaud es una respuesta vascular exagerada al frío o al estrés que se manifiesta por cambios de coloración de la piel en diversas localizaciones; característicamente, presenta tres fases distintas que comprenden palidez, cianosis y rubor. Dependiendo de la ausencia o la presencia de enfermedad de base, el fenómeno se denomina como primario o secundario, siendo este último subtipo una manifestación importante de enfermedades graves, principalmente autoinmunes. El fenómeno de Raynaud primario tiene buen pronóstico y la posibilidad de manejo por médico primario; por el contrario, el secundario implica la necesidad de evaluación y manejo especializado. Es de importancia para el médico general conocer su clasificación, las bases del manejo para control de los signos y síntomas, además de identificar cuándo un paciente requiere valoración y manejo especializado de acuerdo con otras enfermedades de base que puedan coexistir.
Raynaud's phenomenon is an exaggerated vascular response to cold or stress manifested by skin colour changes at several locations, having three characteristic phases: pallor (white), cyanosis (blue) and rubor (red). When the cause is not known this phenomenon is termed primary Raynaud's phenomenon and secondary Raynaud's phenomenon when underlying disease is involved, autoimmune disease being the most frequent cause of the secondary form. Primary Raynaud's phenomenon has a good prognosis and can be treated medically without the need for specialist assessment, unlike secondary Raynaud's phenomenon which needs specialist assessment and treatment. A general practitioner needs to know the classification, the basis for treatment for signs and symptoms control and know when a patient requires specialist evaluation for treatment according to other diseases which may be present or coexist.
ABSTRACT
Estudo transversal cujo objetivo foi identificar as intercorrências e as ações de enfermagem implementadas nos pacientes com esclerose sistêmica submetidos ao transplante autólogo de células tronco hematopoéticas, durante o regime de condicionamento. Foram avaliados 27 pacientes com idade média de 34 anos. Em relação ao tempo de diagnóstico, 48,1% foram submetidos ao transplante entre dois e três anos de descoberta da doença. Diante das principais manifestações apresentadas pelo paciente, destaca-se 96,2% com lesão de pele e mucosa e 81,4% com fenômeno de Raynaud. Quanto às intercorrências durante o regime de condicionamento, a retenção hídrica ocorreu em 100% dos pacientes, sendo implementadas as ações de enfermagem: administração de furosemida, controle hídrico rigoroso, exame físico, monitorização dos sinais vitais, peso e pressão venosa central. Os resultados permitem conhecer as necessidades de saúde dos pacientes com esclerose sistêmica durante o regime de condicionamento e proporciona subsídios para o planejamento da assistência de enfermagem.
The objective of this cross-sectional study was to identify the complications and the implemented nursing actions in systemic sclerosis patients undergoing autologous hematopoietic stem cell transplantation, during the conditioning regimen. Evaluations were performed with 27 patients, with a mean age of 34 years. Regarding the time of diagnosis, 48.1% underwent transplantation between two and three years after discovering the disease. Regarding the main signs in patients, 96.2% had skin and mucous membrane lesions and 81.4% had Raynaud's phenomenon. As to the complications during the conditioning regimen, water retention occurred in 100% of patients, and the following nursing actions were implemented: administration of furosemide, rigorous fluid intake control, physical examination, monitoring vital signs, weight and central venous pressure. The results allow for learning the health needs of patients with systemic sclerosis during the conditioning regimen and offer support for nursing care planning.
Estudio transversal objetivando identificar los cambios y acciones de enfermería implementados en pacientes con esclerosis sistémica sometidos a transplante autólogo de células troncales hematopoyéticas, durante el régimen de acondicionamiento. Fueron evaluados 27 pacientes con media etaria de 34 años. En relación al tiempo de diagnóstico, 48,1% fueron sometidos al transplante entre dos y tres años del diagnóstico de la enfermedad. Entre las principales manifestaciones presentadas por el paciente, se destacan las lesiones de piel y mucosas (96,2%), y 81,4% con fenómeno de Raynaud. Respecto a cambios durante el régimen de acondicionamiento, se manifestó retención hídrica en 100% de los pacientes, implementándose las acciones de enfermería: administración de furosemida, control hídrico riguroso, examen físico, monitoreo de signos vitales, peso y presión venosa central. Los resultados permiten conocer las necesidades de salud de pacientes con esclerosis sistémica durante el régimen de acondicionamiento, y brinda ayuda para planificación de la atención