Porfiria cutánea tarda que simula esclerosis sistémica progresiva / Porphyria cutanea tarda mimicking progressive systemic sclerosis

Resumen Los síndromes esclerodermiformes suelen imitar muy bien una esclerosis sistémica progresiva, y es la presencia de ampollas cutáneas en áreas fotoexpuestas con hiperpigmentación los datos diferenciales para diagnosticar una porfiria. Presentamos el caso de un varón de 48 años con fotosensibilidad, fragilidad capilar, ampollas cutáneas e hiperpigmentación asociado a esclerodactilia, con pérdida cicatrizal distal de tejido en los dedos de las manos, que simuló a la perfección una esclerosis sistémica progresiva. La analítica mostró negatividad para anticuerpos antinucleares, antitopoisomerasa y anticentrómero, con valores altos de uroporfirinas en orina. El tratamiento con flebotomías e hidroxicloquina mejoró la fotosensibilidad y la fragilidad cutánea.

Abstract Sclerodermiform syndromes usually mimic progressive systemic sclerosis very well, with the presence of skin blisters in photo-exposed areas with hyperpigmentation being the differential data for diagnosing porphyria. We present the case of a 48-year old man with photosensitivity, capillary fragility, skin blisters, and hyperpigmentation associated with sclerodactyly with distal scar tissue loss on the fingers, which perfectly simulated progressive systemic sclerosis. The analysis showed negativity for antinuclear, antitopoisomerase and anticentromere antibodies, with high levels of uroporphyrins in urine. Phlebotomy and hydroxycloquine treatment improved photosensitivity and skin fragility.

El péptido Pro-BNP como predictor de daño cardíaco en pacientes con esclerosis sistémica / Pro-BNP Peptide as a Predictor of Cardiac Damage in Systemic Sclerosis Patients

Introducción: La esclerosis sistémica es una enfermedad crónica del tejido conectivo de carácter autoinmune, de causa desconocida, que produce exceso de colágeno provocando fibrosis en la piel, con afectación de órganos internos. Los anticuerpos frecuentes son: antitopoisomerasa 1 y anticentrómero. Las formas clínicas son la cutánea difusa y cutánea limitada. La prevalencia de la afectación cardíaca varía entre un 8-28 por ciento y en fases tardías la presencia de signos y síntomas cardiovasculares es de mal pronóstico y una de las principales causas de mortalidad. Objetivo: Determinar la asociación entre afectación cardíaca y las formas clínicas, el pro-péptido natriurético cerebral N-terminal (NT-proBNP) y los autoanticuerpos en la esclerosis sistémica. Métodos: Se realizó un estudio descriptivo transversal de un universo de 140 pacientes, la muestra fue de 54 pacientes. Se le realizó ecocardiograma, niveles de NT-proBNP, anti-scl 70, anticentrómero y determinación de formas clínicas a todos los pacientes que cumplieron criterios de inclusión y que fueron atendidos en el Hospital: Hermanos Ameijeiras Habana-Cuba, entre julio de 2016 a diciembre de 2017. Resultados: La edad media fue 51,76 ± 12,82. Sexo femenino en un 96,3 por ciento. El 72,2 por ciento era piel blanca. La afectación cardíaca de la EScd fue de 77,5 por ciento, hormona NT-proBNP tuvo niveles elevados en un 55,0 por ciento. Los anti-scl-70 estuvieron negativos en el 70 por ciento (n = 28) de los pacientes con afectación cardíaca. El anti-centrómero estuvo negativo en el 95,0 por ciento (n = 38). Conclusiones: Se determinó que la afectación cardíaca en pacientes con esclerosis sistémica, es independiente de las formas clínicas y de la presencia de autoanticuerpos. Los pacientes que tuvieron los niveles séricos de NT-proBNP elevados presentaron afectación cardíaca(AU)

Introduction: Systemic sclerosis is a chronic autoimmune connective tissue disease of unknown cause, which produces excess collagen causing fibrosis in the skin, affecting internal organs. Common antibodies are antitopoisomerase 1 and anticentromere. The clinical forms are diffuse cutaneous and limited cutaneous. The prevalence of cardiac involvement varies between 8-28percent and in late stages the presence of cardiovascular signs and symptoms have poor prognosis and one of the main causes of mortality. Objective: To determine the association between cardiac involvement and clinical forms, N-terminal pro-brain natriuretic peptide (NT-proBNP) and autoantibodies in SSc. Methods: A cross-sectional descriptive study of a universe of 140 patients was carried out. Fifty four patients made up the sample. An echocardiogram, NT-proBNP, Anti-scl 70, anticentromere levels and determination of clinical forms were performed on all patients who met the inclusion criteria and who were treated at Hermanos Ameijeiras hospital in Havana, Cuba, from July 2016 to December 2017. Results: The mean age was 51.76 ± 12.82. Female sex accounted 96.3percent. 72.2percent were white skinned. Cardiac involvement of EScd was 77.5percent, NT-proBNP hormone had high levels in 55.0percent. Anti-scl-70 were negative in 70percent (n=28) of patients with cardiac involvement. Anti-centromere (ACT) was negative in 95.0percent (n=38). Conclusions: Cardiac involvement in patients with SS is independent of the clinical forms and the presence of autoantibodies. Patients with elevated NT-proBNP serum levels had cardiac involvement(AU)

Systemic scleroderma: imaging findings of diagnosis and clinical management of temporomandibular joint disorders / Esclerodermia sistêmica: diagnóstico por achados imaginológicos e manejo clínico das disfunções temporomandibulares

Scleroderma, an autoimmune disease, directly affects the production of collagen in the connective tissue. In its systemic form, the disease causes oral manifestations such as: limited mouth opening, xerostomia, periodontal disease, thickening of the periodontal ligament and bone resorption of the mandible. This case report aims to draw attention to the difficulties encountered in providing dental care to patients with scleroderma and also to highlight the imaging findings, with emphasis on the temporomandibular joints, which are of interest to dentists about the disease. In the present case, the patient presented bilateral condylar erosion, in addition to disc displacement without reduction. Due to the systemic condition of the patient, it was decided to make an individualized occlusal splint. The limitation of mouth opening is a limiting factor for the manufacture of prostheses and plates, which is why partial prostheses are indicated and are easily removed by the patient. The decisions taken have a great impact on the health and quality of life of patients in these conditions, so there is a need for multidisciplinary involvement in order to arrive at the best treatment plan. After five years of using the stabilizing plate overnight, the patient reports greater comfort and muscle relaxation upon waking up (AU)

Esclerodermia, uma doença autoimune, afeta diretamente a produção de colágeno do tecido conjuntivo. Na forma sistêmica, a doença causa manifestações bucais, como: limitação de abertura bucal, xerostomia, doença periodontal, espessamento do ligamento periodontal e reabsorção da mandíbula. Este relato de caso tem por objetivo chamar atenção para as dificuldades encontradas ao promover atendimento odontológico para pacientes com esclerodermia e também destacar os achados imaginológicos, com ênfase na articulação temporomandibular, que são da doença e de interessa ao cirurgião-dentista. No presente caso, a paciente apresentava erosão condilar bilateral, com deslocamento de disco sem redução. Devido à condição sistêmica da paciente, foi decidido confeccionar uma placa oclusal individualizada. A limitação de abertura bucal é um fator limitante para confecção de próteses e placas, por isso próteses parciais são indicadas, além de serem de fácil remoção pelo paciente. As decisões tomadas tem grande impacto na saúde e qualidade de vida de pacientes nessas condições, deste modo é necessário uma equipe multidisciplinar envolvidas para chegar no melhor plano de tratamento. Após cinco anos fazendo uso da placa estabilizadora durante a noite, a paciente relata maior conforto e relaxamento muscular ao acordar (AU)

Simpatectomía de la arteria radial y ulnar en contexto de úlcera digital secundaria a esclerosis sistémica cutánea localizada / Radial and ulnar artery sympathectomy in the context of digital ulcer secondary to localized cutaneous systemic sclerosis

SPeripheral sympathectomy is a procedure which has shown high rates of decreasing ischemic pain, recover functionality and wound healing, preventing the progression of the disease and further complications. We present a female patient with severe Raynaud´s phenomenon secondary to localized cutaneous systemic sclerosis complicated who presented digital ulcer treated with a sympathectomy of the radial and ulnar artery at the wrist level, undergoing post-operative follow-up.

Características clínico-epidemiológicas de los pacientes con esclerosis sistémica / Clinical-epidemiological characteristics of patients with systemic sclerosis

Introducción: La esclerosis sistémica es una enfermedad rara de la cual existe información limitada en el Centro de Referencia de Enfermedades Reumáticas de la Habana. Objetivo: Describir las características clínico-epidemiológicas de los pacientes atendidos con este diagnóstico en el período comprendido entre noviembre del año 2017 a marzo del año 2019. Métodos: Se realizó un estudio observacional descriptivo, transversal en 73 pacientes. Se evaluaron variables sociodemográficas como la edad, sexo, color de la piel, nivel educacional y ocupación, variables clínicas como forma de presentación y tiempo de diagnóstico de la enfermedad, manifestaciones clínicas, las comorbilidades asociadas y el tratamiento. Resultados: El 57,5 por ciento presentó la forma difusa de la enfermedad y el 48,8 por ciento tenían más de 10 años de diagnóstico. La afectación digestiva en el 94,5 por ciento, la osteomioarticular en el 89,0 por ciento y las cardiovasculares en el 87,7 por ciento fueron las más representadas por órganos y sistemas. Conclusiones: Predominó la forma difusa de la enfermedad, los enfermos con más de 10 años de diagnóstico y la afectación cutánea, digestiva y osteomioarticulares. La HTA seguida de la fibromialgia fueron las comorbilidades más identificadas. Los anti cálcicos, IECA, esteroides y el Metotrexate fueron los fármacos más utilizados en el tratamiento(AU)

Introduction: Systemic sclerosis is a rare disease for which there is limited information in the Reference Center for Rheumatic Diseases of Havana. Objective: To describe the clinical-epidemiological characteristics of the patients treated with this diagnosis in the period from November 2017 to March 2019. Methods: A descriptive, cross-sectional observational study was carried out in 73 patients. Sociodemographic variables such as age, sex, skin color, educational level and occupation, clinical variables such as form of presentation and time of diagnosis of the disease, clinical manifestations, associated comorbidities and treatment were evaluated. Results: 57.5 percent presented the diffuse form of the disease and 48.8 percent had more than 10 years of diagnosis. Digestive involvement in 94.5 percent, osteomyoarticular disease in 89.0 percent, and cardiovascular disease in 87.7 percent were the most represented by organs and systems. Conclusions: The diffuse form of the disease predominated, patients with more than 10 years of diagnosis and skin, digestive and osteomyoarticular involvement. HT followed by fibromyalgia were the most identified comorbidities. Anti-calcium, ACEI, steroids and Methotrexate were the drugs most used in treatment(AU)

Vólvulo cecal y del colon sigmoide como manifestación gastrointestinal de la esclerosis sistémica: reporte de un caso / Cecal and sigmoid colon volvulus as a gastrointestinal manifestation of systemic sclerosis: A case report

Introducción. La esclerosis sistémica es una enfermedad del colágeno de etiología autoinmune, con manifestaciones gastrointestinales hasta en un 90 % de los pacientes. Aunque es infrecuente, se han descrito algunos casos de vólvulos colónicos, pero es extremadamente rara la presentación de vólvulo cecal y del colon sigmoide en un mismo paciente. Caso clínico.Paciente femenina de 65 años, con antecedente de esclerosis sistémica, quien consultó a urgencias por dolor y distensión abdominal, asociados a emesis, con ausencia de flatos y deposiciones. Por imágenes sugestivas de obstrucción intestinal con zona de transición en el colon sigmoide se indicó laparotomía exploratoria, con hallazgo de vólvulo del sigmoide. Posteriormente reingresó por sintomatología similar, con imágenes sugestivas de vólvulo cecal. Se realizó hemicolectomía derecha con ileostomía y posterior cierre de ileostomía en misma hospitalización. Discusión. El vólvulo del colon sigmoide y ciego en un mismo paciente es una condición muy infrecuente. Existen pocos casos reportados en la literatura. Conclusión. La resección del segmento colónico afectado es el estándar de manejo quirúrgico.

Introduction. Systemic sclerosis is a collagen disease of autoimmune etiology, with gastrointestinal manifestations in up to 90% of patients. Although infrequent, some cases of colonic volvulus have been described, but the presentation of cecal and sigmoid colon volvulus in the same patient is extremely rarely. Clinical case. A 65-year-old female patient, with a history of systemic sclerosis, who consulted the emergency room due to abdominal pain and distension, associated with emesis and absence of flatus and stools. Due to images suggestive of intestinal obstruction with a transition zone in the sigmoid colon, an exploratory laparotomy was indicated, with the finding of a sigmoid volvulus. She was later readmitted for similar symptoms, with images suggestive of cecal volvulus. Right hemicolectomy was performed with ileostomy and subsequent closure of the ileostomy in the same hospitalization. Discussion. Volvulus of the sigmoid and cecum in the same patient is a very rare condition. There are few cases reported in the literature. Conclusion. Resection of the affected colonic segment is the standard of care management.

Disfunción sexual en mujeres con esclerosis sistémica / Sexual dysfunction in women with systemic sclerosis

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 ß: -0,08, IC 95%: -0,14 a -0,02; p<0,01), edad (coeficiente ß: -0,23, IC 95%: -0,40 a -0,05; p=0,01) y fibromialgia (coeficiente ß: -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 (ß coefficient: -0.08, CI 95%: -0.14 to -0.02; p<0.01), age (ß coefficient: -0.23, CI 95%: -0.40 to -0.05; p=0.01) and fibromyalgia (ß 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.

Acometimento da função ventricular direita em pacientes com esclerose sistêmica e doença pulmonar intersticial: avaliação pelo doppler tecidual / Impairment of right ventricular function in patients with systemic sclerosis and interstitial lung disease: tissue doppler evaluation

Introdução: A esclerose sistêmica (ES) é uma doença autoimune do tecido conjuntivo que cursa com fibrose e disfunção microvascular. O envolvimento dos órgãos viscerais, incluindo os pulmões e o coração, é a principal causa de óbito na ES. Nesse contexto, analisamos a relação entre os parâmetros ventriculares direitos (VD) pela ecocardiografia com Doppler tecidual e o acometimento pulmonar em pacientes com ES. Métodos: Os pacientes que preencheram os Critérios de Classificação da ES de 2013 foram submetidos à ecocardiografia com Doppler tecidual para avaliação da função sistólica (fração de ejeção) ventricular esquerda (VE), enquanto a função sistólica do VD foi avaliada por meio da fração de variação de área do VD (fractional area change ­ FAC), velocidade (sistólica) do Doppler tecidual, índice de desempenho miocárdico (IDM) e excursão sistólica do plano anular tricúspide (TAPSE). A pressão sistólica pulmonar foi estimada por insuficiência tricúspide. A tomografia computadorizada de alta resolução (TCAR) de tórax avaliou a presença de fibrose pulmonar. De acordo com os resultados da TCAR, os pacientes foram divididos em 2 subgrupos: Grupo I, incluindo pacientes com fibrose pulmonar (n=26), e Grupo II sem fibrose (n=17). Resultados: Entre os 43 pacientes com ES, a maioria era do sexo feminino (86%) com idade de 51±12 anos. Todos os pacientes apresentavam função ventricular sistólica normal, avaliada pela FEVE>55% e FAC VD>35%. Não houve diferença significativa em termos de idade ou duração da doença para os grupos. Exceto pela diminuição das velocidades do Doppler tecidual em pacientes com fibrose pulmonar, todos os índices de desempenho do VD foram semelhantes. Conclusão: Em pacientes com ES e fibrose pulmonar, o Doppler tecidual identifica acometimento miocárdico longitudinal precoce do VD, apesar do desempenho sistólico radial preservado do VD.(AU)

Introduction: Systemic sclerosis (SSc) is an autoimmune tissue connective disease that courses with fibrosis and microvascular dysfunction. Involvement of the visceral organs, including the lungs and heart, is the main cause of death among patients with SSc. In this context, here we analyzed the relationship between right ventricle (RV) parameters assessed by tissue Doppler echocardiography and lung involvement in patients with SSc. Methods: Patients fulfilling the 2013 SSc Classification Criteria underwent tissue Doppler echocardiography for the assessment of left ventricular (LV) systolic function (ejection fraction) and RV fractional area change (FAC), tissue Doppler s' (systolic) velocity, myocardial performance index, and tricuspid annular plane systolic excursion for the assessment of RV systolic function. Pulmonary systolic pressure was estimated using tricuspid regurgitation. Chest high-resolution computed tomography was used to evaluate the presence of pulmonary fibrosis. The patients were divided into two subgroups accordingly: Group I, patients with pulmonary fibrosis (n=26); and Group II, those without fibrosis (n=17). Results: Among the 43 patients with SSc, most were female (86%), and the mean age was 51 ± 12 years. All patients had normal systolic ventricular function as evidenced by an LV ejection fraction > 55% and an RV FAC > 35%. No significant intergroup difference was noted in age or disease duration. Except for a decreased tissue Doppler s' velocity in patients with lung fibrosis, all indexes of RV performance were similar. Conclusion: In patients with SSc and pulmonary fibrosis, tissue Doppler identified early RV longitudinal myocardial involvement despite preserved RV radial systolic performance.(AU)

Paul Klee y la esclerosis sistémica / Paul Klee and systemic sclerosis

Paul Klee representa uno de los pilares del arte de vanguardia del principio del siglo XX. Produjo una ingente cantidad de obras artísticas en sus 60 años de vida. La esclerosis sistémica se manifestó cinco años antes de morir, pero no por ello redujo su actividad creadora. En este artículo se analiza su historia y su enfermedad que tanto influyeron en su obra, y que lo convirtieron en ejemplo paradigmático de resiliencia ante la adversidad.

Paul Klee represents one of the pillars of avant-garde art of the early 20th century. He produced an enormous amount of artistic works in the sixty years of his life. Systemic sclerosis appeared five years before he died, but this did not reduce his creative activity. This article analyzes his life and his illness that so influenced his work and that is a paradigmatic example of resilience in the face of adversity.

Cardiac dysrhythmias in systemic sclerosis / Alteraciones del ritmo cardíaco en esclerosis sistémica

Systemic sclerosis is an immunological disorder characterized by tissue fibrosis and multi-organ dysfunction.1 The accompanying images exhibit electrocardiographic changes in severe systemic sclerosis. Advanced 3:1 atrioventricular block, best observed in Lead Vi, suggests extensive fibrosis of the conduction system (Image A). While one P wave is buried in the T wave (black arrows), two are evident (red arrows) along the isoelectric line. Bradyarrhythmia related prolonged QT interval, best measured in Lead II represents increased risk for torsades-de-pointes, a polymorphic ventricular tachyarrhythmia. Additionally, right bundle branch block with giant T wave inversions (T wave depth > 10 mm) in precordial leads V2- 4 suggests pulmonary hypertension. Post-induction the rhythm abruptly changes to torsades-de-pointes (Image B) necessitating defibrillation.

La esclerosis sistémica es un trastorno inmunológico caracterizado por fibrosis tisular y disfunción multiorgánica. 1 Las imágenes adjuntas muestran cambios electrocardiográficos en la esclerosis sistémica grave. El bloqueo auriculoventricular avanzado 3: 1, que se observa mejor en la derivación VI, sugiere una fibrosis extensa del sistema de conducción ( Imagen A ).Mientras que una onda P está enterrada en la onda T (flechas negras), dos son evidentes (flechas rojas) a lo largo de la línea isoeléctrica. El intervalo QT prolongado relacionado con bradiarritmia, mejor medido en la derivación II, representa un mayor riesgo de torsades-de-pointes, una taquiarritmia ventricular polimórfica. Además, el bloqueo de la rama derecha del haz con inversiones de la onda T gigante (profundidad de la onda T> 10 mm) en las derivaciones precordiales V2- 4 sugiere hipertensión pulmonar. Después de la inducción, el ritmo cambia abruptamente a torsades-de-pointes ( Imagen B ), lo que requiere desfibrilación.

Validación del Score de Condición de Raynaud en Argentina / Validation of Raynaud's Condition Score in Argentina

Objetivo: El objetivo de nuestro estudio fue adaptar y validar el Score de Condición de Raynaud (SCR) en pacientes con Esclerosis Sistémica (SSc) que concurren a un hospital público de Argentina. Materiales y Métodos: Para la adaptación, reumatólogos tradujeron al español la versión original en inglés. Para evaluar la validez de constructo se utilizó: Cuestionario de Capacidad Funcional HAQ (HAQ), Índice Duruöz (ID), validados al español para Argentina, Escala Visual Análoga (EVA) de Raynaud por un experto y Score de Rodnan modificado (mRSS). Para evaluar reproducibilidad, se evaluó de forma aleatoria un subgrupo de pacientes sin mediar cambios en el tratamiento ni en la condición clínica 10 días después de la evaluación basal. Resultados: Se incluyeron 35 pacientes con diagnóstico de SSc. La correlación entre SCR y EVA del médico fue de 0.89; SCR y HAQ 0.58; SCR y mRSS 0.61; SCR e ID 0.57 indicando una muy buena correlación principalmente con el EVA del médico y siendo todos estadísticamente significativos. La reproducibilidad fue de 0.998. Conclusiones: Los resultados muestran que el SCR es una herramienta confiable y válida para esta población argentina con SSc.

Objetive: The aim of our study was to adapt and validate the Raynaud's Condition Score (RCS) in patients with Systemic Sclerosis (SSc) who attend a public hospital in Argentina. Materials and Methods: For adaptation, rheumatologists translated to Spanish the original version in English. To assess the construct validity we used: Health Assesment Questionnaire (HAQ), Duruöz´s Hand Index (DHI), spanish validation for Argentina, Raynaud Visual Analogue Scale (VAS) by an expert and Modified Rodnan skin score (mRSS). To assess reproducibility, a subgroup of patients was randomly evaluated with no changes in treatment or clinical condition ten days after the baseline evaluation. Results: A total of 35 patients with SSc were included. The correlation between RCS and Raynaud VAS by an expert was 0.89; RCS and HAQ 0.58; RCS and mRSS 0.61; RCS and DHI 0.57 indicating a very good correlation mainly between the studied Score and the Raynaud VAS and being all statistically significant. The reproducibility was 0.998. Conclusion: The results show that the RCS is a reliable and valid tool for this argentinian population with SSc.

Morphologic and molecular study on the lens anterior capsule in systemic sclerosis / Relato sobre estudo morfológico e molecular da cápsula anterior do cristalino na esclerose sistêmica

ABSTRACT This study aimed to analyze the anterior lens capsule specimens from both eyes of a patient with systemic sclerosis and compare them to the eyes of a control patient. No significant differences between systemic sclerosis and control eyes were observed in the results from the hematoxylin-eosin and picrosirius staining. In the samples obtained from both systemic sclerosis and control eyes, there were expressions of caspase, a molecule expressed in cell death by apoptosis. Heparanase was overexpressed in the systemic sclerosis sample compared to the control sample. Therefore, the anterior lens capsule of the patient with systemic sclerosis is probably affected by the disease since it showed marked expression of heparanase 1.(AU)

RESUMO Analisamos as amostras das cápsulas anteriores do cristalino de uma paciente com esclerose sistêmica e comparamos com as de um paciente controle. Não foram observadas diferenças significativas entre esclerose sistêmica e controle nos resultados da coloração com hematoxilina-eosina e picrosirius. Nas amostras obtidas da esclerose sistêmica e do controle, obtivemos expressão de caspase, uma molécula expressa na morte celular por apoptose. A heparinase foi expressa de forma mais marcante na amostra de esclerose sistêmica quando comparada ao controle. Portanto, a cápsula anterior do cristalino da paciente com esclerose sistêmica provavelmente foi afetada pela doença, uma vez que mostrou expressão aumentada de heparinase 1.(AU)

Perspectivas da saúde orofacial em portadores de doenças reumáticas: uma revisão da literatura / Perspectives of orofacial health in people with rheumatic diseases: a literature review

Este estudo objetivou verificar as principais manifestações bucofaciais que as doenças reumáticas podem causar. Foram selecionadas, assim, 05 doenças reumáticas: Artrite Reumatóide (AR), Síndrome de Sjogren (SS), Lúpus Eritematoso Sistêmico (LES), Esclerose Sistêmica (ES) e a Síndrome de Behçet (SB). Estas, por sua vez, foram escolhidas por apresentarem como sinais e sintomas clínicos problemas orofaciais. Foi elaborado, dessa maneira, uma revisão bibliográfica de trabalhos com vintênio de 2000 a 2020 nas seguintes bases: LILACS, MEDLINE e SCIELO. Propõe-se, portanto, a introdução de um Cirurgião-dentista na equipe multidisciplinar de Reumatologia para diagnosticar e tratar as especificidades bucofaciais que acometem os portadores de problemas reumáticos... (AU)

This study aimed to verify as main bucofacial manifestations that rheumatic diseases can cause. Thus, 05 rheumatic diseases were selected: Rheumatoid Arthritis (RA), Sjogren's Syndrome (SS), Systemic Lupus Erythematosus (SLE), Systemic Sclerosis (ES) and Behçet's Syndrome (SB). These, in turn, were chosenbecause they present as orofacial clinical signs and symptoms. In this way, a bibliographic review of works with twenty years from 2000 to 2020 was prepared on the following bases: LILACS, MEDLINE and SCIELO. Therefore, it is proposed to introduce a dental surgeon in the multidisciplinary team of Rheumatology to diagnose and treat as orofacial specificities that affect patients with rheumatic problems... (AU)

Taxane-induced scleroderma: report of two cases / Esclerodermia inducida por taxanos: informe de dos casos

ABSTRACT Taxanes are a class of chemotherapeutic agents with common associated dermatologic adverse events, such as skin hyperpigmentation, hand-foot skin syndrome, paronychia and onycholysis. Taxane-induced scleroderma is rare. Few cases with skin findings resembling systemic sclerosis, have been reported after the administration of these agents. We report two cases with stage IV breast cancer, aged 66 and 71 years, who developed sclerodermic skin lesions in their extremities after starting treatment with placlitaxel and nabplaclitaxel respectively.

Los taxanos son agentes quimioterapéuticos cuyo uso se asocia a problemas dermatológicos tales como hiperpigmentación, síndrome manos-pies, paroniquia y onicolisis. La esclerodermia inducida por taxanos es rara, con pocos casos informados en la literatura. Informamos los casos de dos pacientes con cáncer de mama en estado IV, de 66 y 71 años, que desarrollaron lesiones esclerodérmicas en las extremidades después de ser tratadas con placlitaxel y nabplaclitaxel, respectivamente.

Evolución del índice de actividad en pacientes con esclerosis sistémica tratados con ciclofosfamida y prednisona / Evolution of the index of activity in patients with systemic sclerosis treated with cyclophosphamide and prednisone

Introducción: La esclerosis sistémica es una enfermedad autoinmune del tejido conectivo donde ocurre inicialmente la vasculopatía y persiste durante toda la enfermedad. El índice de actividad revela un periodo crítico de la enfermedad. Objetivo: Evaluar la evolución clínica del índice de actividad de pacientes con esclerosis sistémica para determinar si el esquema terapéutico aplicado disminuye los síntomas de actividad sistémica. Métodos: Estudio cuasi experimental terapéutico de 31 pacientes atendidos en el Hospital Lucía Íñiguez Landín de Holguín que se dividieron en dos grupos según las etapas clínicas obtenidas del índice de desarrollo integral desde marzo del 2013 hasta marzo del 2016: el grupo A (etapas clínicas I y II) con 16 pacientes y el grupo B (etapas clínicas III y IV) con 15 pacientes. La evolución se evaluó según variables del instrumento al inicio, a los 6 y 12 meses de aplicado el esquema terapéutico. Se utilizó la prueba T o la prueba exacta de Fisher cuando los valores eran igual a 3 o menores. El cálculo de la media, análisis porcentual y la prueba de Wilcoxon se usaron para conocer la relación de variables en el tiempo. Resultados: El esquema terapéutico aplicado, previa validación, mejoró el índice de actividad de los pacientes de ambos grupos A y B (en etapas clínicas tempranas y tardías). Al evaluar el índice de actividad, en esta serie predominó la actividad moderada, tanto a los 6 como a los 12 meses durante el tratamiento médico. En ambos grupos la mejoría del índice de actividad fue significativa, tanto para la actividad moderada como para la intensa, más notable a partir de los 12 meses con p≤0,05 para el grupo A. Hubo baja susceptibilidad para la mejoría de los sistemas gastrointestinal y respiratorio, en el trascurso de la evaluación de este índice. Conclusiones: Se alcanzó mejoría en el índice de actividad de pacientes con esclerosis sistémica, con el esquema terapéutico aplicado, con estabilidad clínica y humoral desde las etapas iniciales de la enfermedad(AU)

Introduction: The systemic sclerosis is an autoimmune disease of the connective tissue where the vasculopathy happens initially and persist during all the disease. The immune component starts since the inflammatory process triggers off but he diminishes until you dwell on the evolutionary course and it is substituted for fibrosis, this ends pathogenic acquires great significance in the process. The index of activity reveals a critical period of the disease. Objective: Evaluating patients' clinical evolution of the index of activity with systemic sclerosis with the applied therapeutics. Methods: The study was quasi-experiences (or secondary prevention). In order to determine if the therapeutic applied scheme decreases symptomatology of its systemic activity. You started in March of the 2013 to March of the 2016, with duration of 24 months. They were 31 patients that split into two groups according to the clinical stages obtained of Comprehensive Development Index. In the group to (clinical stages I and II) 16 patients and in the group B (clinical stages III and IV) 15 patients. The evolution evaluated according to variables of the instrument of evaluation the start, to the six and 12 months itself of once the therapeutic scheme was applied. The T utilized the proof itself, or exact Fisher's proof when moral values were all the same or minor to three, the statistical significance determined in p≥ 0.05 itself. The calculation of the stocking, percentage analysis, and Wilcoxon's proof to know the relation of variables through the time. Results: The therapeutic applied scheme, previous validation, you improved the index of activity of the patients of both groups A and B that is in clinical premature and overdue stages. In the activity moderated for the group A statistical significance for system microvascular (0.023) and respiratory (0.025) to the six months, and to the 12 months' skin (0.023) and microvascular (0.006). For the intense activity significant improvement to the six months for muscleskelettic (0.005) and rheumatoid positive factor (0.008), to the 12 months' significant improvement for muscleskelettic (0.004); and examine of laboratory like erythrocyte sedimentation rate (0.008) circulating immune complexes (0.005), and rheumatoid factor (0.003). For the group B in the moderate activity significant improvement for respiratory system existed (0.014), and cardiovascular (0.020) that kept to the 12 months, added up its digestive system (0.008). Evident level improvement of skin (0.004), circulating immune complexes (0.008) and rheumatoid factor were caught up within the intense activity to the 12 months (0.014). Conclusions: Improvement in the index of activity of patients with systemic sclerosis, with the therapeutic scheme applied, with clinical stability and humoral from initial stages of the disease was caught up with(AU)

A review of hematopoietic stem cell transplantation for autoimmune diseases: multiple sclerosis, systemic sclerosis and Crohn's disease. Position paper of the Brazilian Society of Bone Marrow Transplantation

ABSTRACT Autoimmune diseases are an important field for the development of bone marrow transplantation, or hematopoietic stem cell transplantation. In Europe alone, almost 3000 procedures have been registered so far. The Brazilian Society for Bone Marrow Transplantation (Sociedade Brasileira de Transplantes de Medula Óssea) organized consensus meetings for the Autoimmune Diseases Group, to review the available literature on hematopoietic stem cell transplantation for autoimmune diseases, aiming to gather data that support the procedure for these patients. Three autoimmune diseases for which there are evidence-based indications for hematopoietic stem cell transplantation are multiple sclerosis, systemic sclerosis and Crohn's disease. The professional stem cell transplant societies in America, Europe and Brazil (Sociedade Brasileira de Transplantes de Medula Óssea) currently consider hematopoietic stem cell transplantation as a therapeutic modality for these three autoimmune diseases. This article reviews the evidence available.

Tiossulfato de sódio 10% intralesional para tratamento da calcinose em pacientes com esclerose sistêmica e dermatomiosite: série de casos / 10% intralesional sodium thiosulphate for calcinosis treatment in patients with systemic sclerosis and dermatomyositis: case series

INTRODUÇÃO: A calcinose é uma complicação frequente da esclerose sistêmica e da dermatomiosite, resultando em dor local, contraturas, ulcerações, infecções secundárias e limitação funcional. Não há tratamento eficaz para calcinose mas o tiossulfato de sódio tem se mostrado promissor. OBJETIVOS: Analisar a resposta terapêutica ao tiossulfato de sódio 10% intralesional nas calcinoses de pacientes com dermatomiosite e esclerose sistêmica. MÉTODOS: Estudo prospectivo, não controlado, incluindo 7 pacientes, totalizando 10 calcinoses, sendo um paciente com dermatomiosite e 6 com esclerose sistêmica. Desfechos primários: melhora da dor pela escala visual analógica e diminuição do maior e menor diâmetros das calcinoses ao raio-x. Desfechos secundários: melhora da qualidade de vida pelo SF12 (Medical Outcomes Study Short Form 12) e da função pelo HAQ (Health Assesment Questionnaire). Resultados foram expressos em médias e as variáveis contínuas comparadas pelo teste t-Student ou pelo teste de Wilcoxon. RESULTADOS: Foram realizadas 2 a 8 aplicações intralesionais (média de 3,7), com média de 8,9mg de tiossulfato por injeção a intervalos de 13 a 56 dias, com intervalo médio de 19 dias. Todos os pacientes relataram melhora da dor, porém esse resultado não foi significativamente estatístico. Não houve redução do diâmetro das calcinoses, nem melhora da qualidade de vida ou funcional. CONCLUSÃO: Baixas doses de tiossulfato de sódio administradas por injeções intralesionais, em intervalos médios de 19 dias, em número limitado de aplicações, não foram efetivas para o tratamento da calcinose

BACKGROUND: Calcinosis is a frequent complication of systemic sclerosis and dermatomyositis, resulting in local pain, contractures, ulcerations, secondary infections and functional limitations. There is no effective treatment for calcinosis, but sodium thiosulphate has shown to be promising. OBJECTIVE: To analyze the therapeutic response to 10% intralesional sodium thiosulphate on calcinosis of patients with dermatomyositis and systemic sclerosis. METHODS: Non-controlled prospective study, with 7 patients and 10 calcinoses, of which one had dermatomyositis and six had scleroderma. Primary outcomes: improvement in the pain by the visual analogue scale, and a decrease in both diameters (biggest and smallest) of calcinoses on X-ray. Secondary outcomes: improvement in quality of life by SF12 (Medical Outcomes Study Short Form 12), and of function by HAQ (Health Assessment Questionnaire). Results were expressed as means; continuous variables were compared by the t-Sudent test or by the Wilcoxon test. RESULTS: Two to 8 intralesional applications were performed (mean of 3.7), with mean of 8.9mg of thiosulphate per injection, at 13-56 days intervals (mean of 19 days). All patients reported improvement in pain, albeit such result was not statistically significant. There was no reduction in the diameters of calcinoses, nor there were quality of life or functional improvements. CONCLUSION: Low doses of sodium thiosulphate, administered through intralesional injections, in mean intervals of 19 days, in a limited number of applications, were not effective for calcinosis treatment

Enfermedad indiferenciada del tejido conectivo con progresión a esclerosis sistémica / Undifferentiated disease of the connective tissue with progression to systemic sclerosis

La enfermedad indiferenciada del tejido conectivo es una condición de etiología desconocida que comparte características clínicas, patológicas y de laboratorio de varias colagenosis, sin cumplir los criterios del Colegio Americano de Reumatología para el diagnóstico de una enfermedad reumática específica y muchos pacientes evolucionan a condiciones definidas a lo largo del tiempo tales como Lupus, Esclerosis sistémica progresiva, Enfermedad de Sjögren entre otros. Antecedentes: Linfoma Hodgkin diagnosticado desde 2012 para lo cual recibió múltiples esquemas de quimioterapia. Las muestras de ganglio y médula ósea se habían enviado al laboratorio de Inmunopatologia de la Universidad de Stanford y allí no se apreciaron hallazgos compatibles con enfermedad linfoproliferativa. Enfermedad actual: Mujer de 27 años de edad con cuadro clínico de 1 mes de evolución, caracterizado por edema blando en miembros inferiores acompañado de edema palpebral matutino; concomitantemente presenta aumento de temperatura intermitente sin patrón especifico y dolor osteomuscular generalizado con limitación para la deambulación. Se ingresa. Al examen físico, regulares condiciones clínicas. En la piel se aprecia engrosamiento cutáneo importante. Se realizó biopsia cutánea y los hallazgos fueron compatibles con Esclerosis Sistémica(AU)

Undifferentiated connective tissue disease is a condition of unknown etiology that shares clinical, pathological and laboratory characteristics of several collagenopathies that do not meet the criteria of the American College of Rheumatology for the diagnosis of a specific disease; a large number of patients evolve to conditions defined over time such as Lupus, Systemic Sclerosis, Sjogren's Disease, among others. Past history: Hodgkin lymphoma was diagnosed since 2012 for which she received multiple chemotherapy schemes. A gland biopsy was sent to the Stanford University, as well as a bone marrow sample, and lymphoma was discarded. Present history: this 27-year-old female consulted for edema in lower limbs present during one month, accompanied by eyelid edema in the mornings; also fever without a specific pattern, myalgias and arthralgias. On physical examination, the skin was thickened and limb edema was present. A skin biopsy was performed, and the findings were consistent with Systemic Sclerosis. The patient is receiving cyclophosphamide and Azathioprine and leading her normal life(AU)

Photobiomodulation in the treatment of xerostomia associated with hyposalivation in a pediatric patient with systemic scleroderma

Scleroderma is a rare autoimmune disease characterized by excessive collagen production. The oral manifestations of the patient with scleroderma can include microstomia, xerostomia, and changes in the resorption teeth. We report the case of a 7-year-old female patient diagnosed with systemic scleroderma where photobiomodulation therapy was used to treat xerostomia associated with hyposalivation. She attended a pediatric clinic and presented with dry and rigid facial skin, trismus, xerostomia, malocclusion, and difficulty swallowing. Stimulated salivary flow was assessed before, during, and after treatment. Photobiomodulation therapy was conducted at four points at the sublingual glands with 660 nm, 100 mW, and 0.8 J/cm2 to each point; eight points at the parotid glands; and six points at the submandibular glands with 808 nm, 100 mW, and 0.8 J/cm2 for 8 seconds at each point. After this therapy, an increase in salivary flow, remission of the xerostomia, and an improvement in mastication and swallowing were observed. Photobiomodulation therapy was effective in controlling xerostomia in this pediatric patient, resulting in increased salivary flow and an improvement in her quality of life.

Is rituximab effective for systemic sclerosis? A systematic review and meta-analysis

Abstract Background: Systemic sclerosis (SSc) Is a clinically complex and challenging disease, that leads to skin fibrosis. Its most frequent complication is interstitial lung disease (ILD), which leads to a worse prognosis. In this situation, cyclophosphamide is considered the gold standard for its treatment, despite the controversies regarding its efficacy and toxicity. However, studies using rituximab (RTX) have shown that this drug may be a promising therapeutic option. Objectives: This paper objective was to analyze the scientific evidence on the RTX effects on SSc. Methods: A systematic review (SR) was performed including clinical trials (CTs) on the use of RTX in SSc, published up to May 2020. The studies were identified through systematic searches in bibliographic databases using a predefined search strategy. The following databases were used: PUBMED, SCOPUS, SCIELO, LILACS, SCIENCE DIRECT, WEB OF SCIENCE, COCHRANE, WHOLIS, PAHO and EMBASE. Also, a manual search was performed. The methodological quality of the studies was determined using Jadad scale, Risk of Bias Tool (RoB 2.0) and Risk of Bias in Non-Randomized Studies - of Interventions tool (ROBINS-I). A meta-analysis of the randomized CTs was performed, using Review Manager. Results: Ten CTs were included in this SR. Of these, three were randomized and seven were non-randomized. Five showed a statistically significant improvement in forced vital capacity (FVC) at some time during follow-up. Regarding the skin, eight studies showed statistically significant improvements according toa the modified Rodnan skin score. The meta-analysis found positive effects of RTX in SSc, with a statistical significance for lung disease. Conclusion: Rituximab is a promising strategy for the SSc-associated ILD and cutaneous fibrosis treatment. PROSPERO registration number: CRD42019132018.(AU)