Síndrome de Marfán en la edad adulta / Marfan's Syndrome

El síndrome de Marfán es una enfermedad que integra el grupo de las llamadas colagenopatías no autoinmunes. Etiológicamente consiste en la mutación del gen que codifica la fibrilina 1, que se encarga junto con otras proteínas como la elastina de formar los microfilamentos de sostén de la matriz celular. Este defecto genera diversas manifestaciones clínicas por trastornos en diferentes sistemas (esquelético, cardiovascular, gastrointestinal, ocular). Se presenta un paciente de 43 años de edad, de raza negra, que llegó a la edad adulta sin un diagnóstico de la enfermedad. Incidentalmente sospechamos el diagnóstico al tratar una neumonía adquirida en la comunidad. Se trató su cuadro de neumonía con piperacilina y tazobactam por 7 días. Se recomendó la valoración por parte de cirugía cardiovascular por hallazgos de aneurisma de la aorta ascendente, pero el paciente decidió no continuar con los estudios de su enfermedad. Se aconsejó cambios en el estilo de vida y ejercicios físicos y se diagnosticó alta probabilidad de muerte por el problema vascular descrito(AU)

Marfan's syndrome is a disease that is included in the group of the no autoimmune collagen diseases, the ca use of this syndrome is a mutation in the gen FBN1 that translate the protein fibrillin 1, that is fundamental besides other proteins like elastin to form a part of the extracellular matrix. This defect generates multiple clinical manifestations due to defects in different systems (skeletal, cardiac, big vessels, gastrointestinal, ocular). The reported case is of a patient who reached adulthood without a diagnosis of the diseases, which we incidentally suspect in the context of community acquired pneumonia(AU)

Acquired reactive perforating collagenosis in association with prostate adenocarcinoma, chronic lymphocytic leukemia, and Graves disease

Abstract Acquired reactive perforating collagenosis is a rare skin disorder characterized by the presence of umbilicated pruritic papules and nodules. Transepidermal elimination of altered and perforating bundles of basophilic collagen from the epidermis is a characteristic histologic feature of acquired reactive perforating collagenosis. Along with its well-known association with systemic diseases such as diabetes mellitus, chronic renal failure, and dermatomyositis, there are reports of acquired reactive perforating collagenosis being associated with malignancies. Herein, we present a case of acquired reactive perforating collagenosis associated with chronic lymphocytic leukemia, prostate adenocarcinoma, and Graves's disease. Clinicians are required to be more vigilant in evaluating patients with acquired reactive perforating collagenosis due to its unique association with malignancies and other systemic diseases.

Tuberculosis o colagenosis: un dilema diagnóstico / Tuberculosis or collagenosis: a diagnostic dylemma

Introducción: Colagenosis y tuberculosis comparten síntomas y signos, pero además, el trastorno autoinmune y los tratamientos inmunosupresores que reciben los pacientes con colagenosis, los hacen más vulnerables a esta infección, lo que puede constituir un dilema diagnóstico. Objetivo: Contribuir al conocimiento de la relación entre tuberculosis y colagenosis. Presentación de casos: Se presentan tres adolescentes con tuberculosis, atendidos en el Centro de Referencia Nacional para la Tuberculosis Infantil. Dos enfermos tenían diagnóstico previo de colagenosis (artritis idiopática juvenil y polimiositis) con tratamiento esteroideo en exacerbaciones o continuo desde hacía un año, respectivamente. El tercero presentó un síndrome febril prolongado con pleuresía y pericarditis, con sospecha de lupus eritematoso diseminado. Se diagnosticó tuberculosis por test de mantoux hiperérgico. El tratamiento fue prolongado con esteroides, drogas antituberculosas y pericardiotomía al inicio del proceso, con evolución tórpida y fallo de tratamiento. Todo el tiempo se trató de descartar una enfermedad del colágeno. Se confirmó por cultivo la tuberculosis en los tres pacientes y la evolución final fue satisfactoria. Se exponen las características de cada enfermo y se analiza la relación entre ambas entidades. Conclusiones: Se presentan tres casos que ejemplifican la relación entre tuberculosis y colagenosis(AU)

Introduction: Collagenosis and tuberculosis share similar symptoms and manifestations; and in addition, the autoimmune disorder and inmunosuppressive treatments that patients with collagenosis receive make them more vulnerable to this infection which can constitute a diagnostic dylemma. Objective: To contribute to a better knowledge on the relation among tuberculosis and collagenosis. Cases presentation: Three adolescents suffering collagenosis are presented. They were attended in the National Reference Center for Children Tuberculosis. Two of the patients had previous diagnostic of collagenosis (juvenile idiopatic arthritis and polymyositis) with steroids treatment in exacerbations or continuous since a year ago. The third patient presented a prolonged febrile syndrome with pleurisy and pericarditis, with suspicions of disseminated lupus erythematosus. Tuberculosis was diagnosed by the test of hyperergic Mantoux. The treatment was prolonged with steroids, antiturberculosis drugs and pericardiotomy at the beginning of the process, with bad evolution and failure of the treatment. All the time it was intended to rule out collagen disease. Tuberculosis was confirmed by culturing in the three patients and final evolution was satisfactorily. Characteristics of each patient were exposed and it was analyzed the relation among both diseases. Conclusions: Three cases that exemplify the relation among tuberculosis and collagenosis(AU)

Correlación de la función pulmonar con los hallazgos de la tomografía de alta resolución en la enfermedad pulmonar intersticial difusa secundaria a colagenopatía. Hospital Nacional Edgardo Rebagliati Martins, 2010-2011 / Correlation of lung function with the findings of high-resolution computed tomography in diffuse interstitial lung disease secondary to collagen disease. National Hospital Edgardo Rebagliati Martins, 2010-2011

Se realizó un estudio descriptivo retrospectivo transversal con el objetivo de correlacionar la función pulmonar y los hallazgos tomográficos de los pacientes con enfermedad pulmonar intersticial difusa (EPID) secundaria a colagenopatía atendidos en el Hospital Nacional Edgardo Rebagliati Martins (HNERM) entre el 2010-2011. Se revisaron las historias clínicas y se obtuvieron los datos de las pruebas funcionales (espirometría, DLCO y pletismografía) realizadas a estos pacientes así como los hallazgos tomográficos de la TCAR. Se utilizó el Score severidad tomográfica de Peris Sánchez para valorar el compromiso pulmonar de la EPID. Ingresaron al estudio 102 pacientes con edad mayor de 50 años en el 64.8 por ciento, sexo femenino (95.1 por ciento) e instrucción secundaria (57.8 por ciento). La etología más frecuente de la EPID fue esclerosis sistémica (36.3 por ciento) y artritis reumatoidea (29.4 por ciento).la sintomatología más frecuente fue la tos y disnea (56 por ciento). La media de la CVF fue 75.90+/-20.004 por ciento y el 40.2 por ciento fueron normales, la media de la SVC fue 78.10+/- 21.149 por ciento y el 41.2 por ciento fueron normales, la media de la DLCO fue 80.05+/-26.47 ml/min/mmHg y el 51 por ciento fueron normales, la media del TLC fue 89.06+/-21.296 por ciento y el 63.7 por ciento fueron normales. El patrón tomográfico más frecuente fue el reticular. La severidad de la TCAR fue: leve (54.9 por ciento), moderada (33.3 por ciento) y severa (11.8 por ciento). Se encontró que un DLCO menor de 40 ml/min/mmHg se correlaciona bien con el grado de severidad en la TCAR (p<0.001 y correlación de Spearman: -0.4214); CVF y SVC menor de 70 por ciento se correlaciona bien con el grado de severidad en la TCAR (p<0.001 y correlación de Spearman: -0.291 y -0.370 respectivamente), y no se encontró un valor de TLC que se correlacione con la severidad en la TCAR (p<0.001 y correlación de Spearman: -0.585). Concluyo que nuestro estudio demuestra que el DLCD es la...

A retrospective cross-sectional descriptive study was conducted in order to correlate lung function and the results of the tomographies performed on patients with diffuse interstitial lung disease (DPLD) secondary to collagen disease treated at the Public Hospital Edgardo Rebagliati Martins (PHERM) between 2010 and 2011. Medical records were reviewed, after that the data of functional testing (Spirometry, DLCD and Plethysmography) and examination of High Resolution Computed Tomography (HRCT) performed on these patients were obtained. The tomography scores of severity by Peris Sanchez were used to assess the pulmonary consequences of the ILD. 102 patients were studied, of which 64 per cent were over 50 years old, 95 per cent were females, and 75 per cent had completed the high school. The most common etiology of ILD was the systemic sclerosis (36 per cent) and the rheumatoid arthritis (29 per cent). The most frequent symptoms were cough and dyspnea (56 per cent). The mea n of the TVC was 75+/-20 per cent and the 40 per cent of them were normal, the mean of the SVC was 78+/-21 per cent and the 41 per cent of them were normal, the mean of the DLCD was 80+/-26 mil/min/mmHg and the 51 per cent of them were normal, the mean of the TLC was 89+/-21 per cent and the 63 per cent of them were normal. The most common pattern of the tomographies was the reticular pattern. The severity of HRCT was: mild (54 per cent), moderate (33 per cent) and severe (11 per cent). It was observed that a DLCD less than 40 ml/min/mmHg is related to the degree of severity on HRCT (p<0.001 and the Spearman correlation: - 0.4214), and at the same time it was observed that the FVC and the SVC of less than 70 per cent is related to the degree of severity on HRCT (p<0.001 and the Spearman correlation: -0.291 and -0370 respectively). It was not observed that el TLC value is related to the severity on HRCT (p<0.001 and the Spearman correlation: -0585). I conclude that this research shows that the...

Liver pathology in collagen vascular disorders highlighting the vascular changes within portal tracts.

Background: Collagen vascular disorders (CVDs) are autoimmune disorders with multisystem involvement. Clinical liver involvement is not a characteristic feature though histological involvement could be frequent. Liver disease in CVDs could be the consequence of various factors. Aim: The aim was to analyze the histological spectrum of liver in collagen vascular disorders (CVDs) at autopsy. Materials and Methods: Thirty-six autopsy livers negative for hepatitis B or C virus were studied in CVD cases with no known association with chronic liver disease or vascular thrombosis or hematological disorder. Cirrhotic and normal livers were used as controls. The paired t-test, one-way ANOVA, and two-sided Dunnett t-test were used for comparison (< 0.05). None of the control cases showed any abnormal vessels. Results: There were 21 systemic lupus erythematosus (SLE), 7 rheumatoid arthritis (RA), 5 systemic sclerosis (SSc), and 3 polyarteritis nodosa (PAN) cases (M:F = 11:25, age range 23-60 years). Histology: Diffuse nodular regenerative hyperplasia of liver (NRHL) was seen in 10 cases, and 6 (5 SLE and 1 RA) had numerous abnormal thin-walled vessels in intermediate- and small-sized portal tracts with no vascular occlusion or inflammation. Moderate sized portal tracts showed more interface and lobular inflammation. The main portal vein and its major branches were normal. None of these six cases had increased transmainases (P>0.05). Most SLE cases had increased transaminases (P<0.05). No evidence of portal hypertension was seen in all except in one RA. Septicemia is known to be associated with raised transaminases. Conclusion: A rare pathology of conglomerate of abnormal vessels in intermediate- and small-sized portal system was observed co-existing with NRHL in CVDs. Raised liver enzyme with interface hepatitis in CVD may not necessarily warrant an overlap, as a similar feature could be observed in septicemia.

Temas de atualização e revisão em Clínica Médica: febres prolongadas de origem obscura: parte 2 / Themes of updating and revision in Medical Clinic: prolonged fever of unknown origin: part 2

Os autores apresentam uma revisão sobre as febres de origem obscura. Discutem inicialmente o seu conceito, restringindo o artigo ao estudo das febres de origem obscura clássica. Em seguida analisam as suas principais causas, dividindo-as em quatro grupos: infecções, neoplasias, doenças inflamatórias não infecciosas e miscelânea. São discutidos os principais exames laboratoriais e procedimentos indicados no seu esclarecimento, propondo uma rotina para os casos sem indícios diagnósticos. Continuam o trabalho revisando as razões citadas para explicar o retardo diagnóstico e descrevem as suas principais formas de evolução. Terminam a revisão listando as provas terapêuticas mais executadas nos pacientes que ao fim da investigação não têm um diagnóstico firmado.

A review on fever of unknown origin (FUO) is presented. After defining its concept, the authors focus on the discussion of the classic FUO. The etiology is analyzed, with the main causes of FUO classified into four groups: infections, malignancies, non-infectious inflammatory diseases and miscellaneous. The main laboratorial tests and diagnostic procedures used to clarify the cause of classic FUO are discussed and an investigation routine for cases with unexplained FUO is proposed. The main causes for diagnosis delay and the outcome of such cases are analyzed. Finally, the authors describe the most frequent empirical therapeutic trials that are employed in patients whose diagnosis remain undefined after appropriate investigation.

Reactive perforating collagenosis.

Reactive perforating collagenosis is a rare cutaneous disorder of unknown etiology. We hereby describe a case of acquired reactive perforating collagenosis in a patient of diabetes and chronic renal failure.

Curso de Reumatologia: aula 4: manifestações gastrointestinais nas colagenoses / Course of Rheumatology: class 4: gastrointestinal manifestations in collagenosis

O termo colagenose, surgido em 1942, é hoje substituído por doenças difusas do tecido conjuntivo, que se constituem em um grupo de moléstias que afetam o tecido conjuntivo, rico em colágeno. São enfermidades que podem comprometer vários sistemas e múltiplos órgãos, sendo, portanto, de caráter sistêmico. O objetivo desta aula é discutir as manifestações gastrointestinais e sua abordagem terapêutica. Serão focadas algumas doenças difusas do tecido conjuntivo, a saber: esclerose sistêmica, lúpis eritematoso sistêmico, dermatopolimiosite e Sjõgren.

The term "collagen diseases" was first introduced by Klemperer in 1942, and is currently been called connective tissue diseases. All the organ and systems are both affected by them, so that's why it can be called systemic diseases. The aim of this lesson is to discuss gastrointestinal manifestations and its therapeutic approach, while it will be detailed the connective tissue diseases like systemic sclerosis, systemic lupus erythematosus, polymyositis/dermatomyositis and Sjõgren's syndrome.

Manifestações intratorácicas das doenças do colágeno na tomografia computadorizada de alta resolução do tórax / Intrathoracic manifestations of collagen vascular diseases on high-resolution chest computed tomography

As manifestações intratorácicas das doenças do colágeno são bastante comuns. O padrão e a freqüência de comprometimento dependem do tipo específico de doença do colágeno, que pode envolver um ou vários compartimentos simultaneamente, tais como parênquima, vias aéreas, artérias pulmonares, pleura, e pericárdio. As manifestações mais importantes incluem as pneumonias intersticiais difusas e a hipertensão pulmonar, que em conjunto representam as principais causas de mortalidade e morbidade nesses pacientes. O acometimento pulmonar, pleural e de via aérea pode ser também secundário a terapêutica instituída ou ser decorrente de processos infecciosos bacterianos ou por germes oportunistas, por causa da imunossupressão. Nesta revisão os autores sumarizam as manifestações intratorácicas e o diagnóstico diferencial das principais doenças do colágeno na tomografia computadorizada de alta resolução do tórax.

Intrathoracic manifestations of collagen vascular diseases are very common. The frequency of intrathoracic manifestations and the pattern of abnormality are variable depending on the type of collagen vascular disease and may simultaneously involve one or more of the following: lung parenchyma, airways, pulmonary vessels, pericardium, and pleura. Most significant manifestations include diffuse interstitial pneumonia and pulmonary hypertension which together represent the main causes of morbidity and mortality of these patients. Pulmonary, airway and pleural involvement may also be secondary to the therapy adopted for management of the disease, or result from bacterial pneumonia or opportunistic infection. In the present review, the authors summarize the main intrathoracic manifestations of collagen vascular diseases and the differential diagnosis on high-resolution chest computed tomography.

Compromiso pulmonar difuso en las enfermedades reumáticas: hallazgos tomográficos / Diffuse pulmonary commitment in the rheumatic diseases: tomográficos findings

Objetivo: Analizar la incidencia de las diferentes intersciopatías en pacientes con enfermedad reumática conocida, valorando los hallazgos en Tomografía Computada de Alta Resolución (TCAR). Material y métodos: entre noviembre de 2003 y diciembre de 2005 se evaluaron retrospectivamente 37 pacientes con enfermedad reumática. Todos ellos presentaron prueba de Capacidad de Difusión de monóxido de carborno (DLCO) y/o funcional respiratorio alterado. Se les solicitó TCAR, analizando distintos parámetros para la caracterización del intersticio pulmonar. Resultados: En aproximadamente la mitad de los pacientes en estudio (n:18) (48,6 por ciento), la TCAR no evidenció alteraciones intersticiales. En los casos con artitris reumatoidea (n:5), se observaron patrones compatibles con neumonía intersticial usual (NIU) en cuatro de ellos, y sólo uno presentó neumonía intersticial inespecífica (NII). En aquellos casos con lupus (n:2), se identificó neumonía intersticial linfocítica (NIL) e inespecífica (NII). En los pacientes con polimiositis (n:2), se arribó al diagnóstico de NIU y de neumonía organizada criptogénica (COP), mientras que en aquel con dermatomiositis (n:1) se visualizaron signos de fibrosis intersticial con un patrón indeterminado. En los casos con antecedentes de síndrome de Sjôgren (n:2), se observaron imágenes correspondientes a NIU y NIL. Entre los pacientes con esclerodermia (n:25) no se evidenciaron alteraciones en 18 casos; solo 5 mostraron un patrón inespecífico y 2 presentaron NIU. Este grupo de pacientes no tenía sintomatología pulmonar al momento del examen. El patrón intersticial predominante fue el de NIU, presente en 9 pacientes (24,3 por ciento), y en segundo lugar, el de NIL, en 3 (8,1 por ciento); 1 presentó NIL (2,7 por ciento); 1 COP (2,7 por ciento) y un grupo evidenció alteraciones intersticiales inespecíficas (13,6 por ciento). Conclusión: La utilidad diagnóstica de la TCRA radica en la alta correlación que presenta tanto con la clínica como con el examen funcional respiratorio...

Acquired reactive perforating collagenosis: report of a case and review of the literature.

A case of acquired reactive perforating collagenosis is reported in a 57-year-old Thai woman, with a history of diabetes mellitus, chronic renal insufficiency needing hemodialysis, and dry gangrene of the right fourth toe. Physical examination revealed multiple scattered erythematous hyperkeratotic nodules and plaques and some showed ulceration. Histopathology showed vertical strands of collagen perforating from the ulcerated lesions. The authors also reviewed the literature on this subject.

Pioderma gangrenoso: a propósito de 6 casos / Pyoderma gangrenosum: report of 6 cases

Se presentan seis pacientes con pioderma gangrenoso ulceroso. Dos casos no tenían enfermedad sistémica asociada, el tercero presentaba un síndrome mielodisplásico y diabetes, el cuarto artritis reumatoidea y diabetes, el quinto síndrome mielodisplásico y hepatitis B y el sexto hepatitis C y síndrome hemofagocítico reactivo. Se describen las formas clínicas, enfermedades que pueden asociarse, histopatología, así como el diagnóstico y tratamiento de ésta infrecuente enfermedad

Relación entre algunos agentes microbianos y ciertas dermatosis, incluidas algunas colagenopatías / The relation between some microbial agents and some dermatoses, including collagen diseases

Basándonos en una amplia revisión bibliográfica, consideramos que la mayoría, sino todas las enfermedades del tejido conectivo tienen agentes etiológicos disparadores de fenómenos inmunes. La identificación de éstos permitirá ajustar las medidas terapéuticas y profilácticas e impedir, cuando sea posible, el contagio y/o las consecuencias alejadas de estas infecciones

Bronchoalveolar lavage (BAL) in newly diagnosed patients with collagen vascular diseases.

Collagen vascular diseases (CVD) are commonly associated with interstitial lung diseases. Bronchoalveolar lavage (BAL) fluid analysis has important diagnostic value when considered in conjunction with other information. The present study was undertaken in newly diagnosed patients with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) at presentation to characterise BAL cellular constituents and elucidate the cellular picture in patients with and without pulmonary symptoms and in those with and without radiological (high resolution computed tomography) features of interstitial lung disease. All the patients were non-smokers and had not received any form of treatment for their diseases. The means of percentages of lymphocytes, neutrophils, and macrophages were 23.3%, 6.2%, 70.5% respectively. There was a significant BAL lymphocyte predominance in patients with pulmonary symptoms, and a lymphocyte and neutrophil predominance in those having radiological evidence of interstitial lung disease.

Revisión bibliográfica actualizada sobre enfermedades asociadas a disfunciones del colágeno / An update review of the literature on collagen dysfunction-associated diseases

Diferentes enfermedades del tejido conjuntivo, tales como la osteogénesis imperfecta, el sindrome de Ehlers-Danlos, dermatosparaxis, esclerodermia, epidermolisis bullosa distrófica, sindrome de Goodpasture, sindrome de Alport, presentan anomalías en la estructura y biosíntesis del colágeno. La mayoría de las veces resulta de mutaciones de los genes que codifican para los diferentes tipos de colágeno: actualmente se conocen 19 tipos de colágenos genéticamente diferentes codificados por más de 30 genes