Pacientes con compromiso orbitario y renal: Diagnósticos diferenciales poco frecuentes / Patients with orbitary and kidney commitment: Rare differential diagnoses

Se comunica una serie de tres casos clínicos que consultaron al servicio de Reumatología por compromiso orbitario y renal. Uno de ellos presentó pseudotumor orbitario con proteinuria en rango nefrótico; se realizó biopsia y se encontró infiltrado linfoplasmocitario denso y fibrosis estoriforme con inmunohistoquímica: 15 células IgG4+ por campo de alto poder y relación IgG/IgG4 ≤40%, concluyendo diagnóstico de enfermedad relacionada por IgG4. El segundo y tercer caso presentaron compromiso ocular con "ojos de mapache" y lesiones amarillentas en párpados, ambos con proteinuria >500 mg/24 h, con biopsia de piel rojo Congo positiva y birrefringencia verde manzana con luz polarizada. Se discuten distintos diagnósticos diferenciales poco frecuentes a tener en cuenta en estos pacientes.

A series of three cases that consulted the rheumatology service due to orbital and renal involvement is reported. One of them presented orbital pseudotumor with proteinuria in the nephrotic range, a biopsy was performed, finding dense lymphoplasmacytic infiltrate and storiform fibrosis with immunohistochemistry: 15 IgG4 positive cells per HPF and IgG/IgG4 ratio ≤40%, concluding diagnosis of IgG4 related disease. The second and third cases presented ocular involvement with raccoon eyes and yellowish lesions on the eyelids, both with proteinuria greater than 500 mg/24 h, with apple-green birefringence of amyloid on congo red staining. Different rare differential diagnoses to take into account in these patients are discussed.

Sarcoidosis Mimicking Skull Base Meningioma

Sarcoidosis is a systemic disease characterized by granulomatous inflammation. Pulmonary and lymphatic granulomatous involvement are common.We present a rare case report of involvement of the central nervous system affecting the ocular region and mimicking optic nerve sheath meningioma. We report the case of a 79-year-old female patient with progressive visual impairment with an evolution of 4 years. Amagnetic resonance imaging scan of the cranium with gadolinium and intense homogeneous contrast enhancement revealed an expansive lesion in the right optic nerve, at the height of the optic canal. The patient was submitted to the neurosurgical approach with lesion biopsy, which showed sarcoidosis of the central nervous system. Due to the rarity of central nervous system involvement, the diagnosis of this pathologymay unfortunately be postponed. The present article aims to elucidate this pathology as a differential diagnosis of retro-orbital tumors.

Sarcoidosis / Sacoidosis

Introducción: La sarcoidosis es un desorden multisistémico de causa desconocida. El curso de la enfermedad es variable, puede ser asintomático con resolución espontánea o progresar con fallo orgánico llegando incluso a la muerte. Objetivo: Describir el protocolo diagnóstico ante la sospecha de sarcoidosis. Presentación del caso: Se presenta un caso clínico con varios síntomas y signos aparentemente no relacionados entre sí, en el que se implementa un algoritmo descrito en la literatura foránea. Conclusiones: La interdisciplinariedad fue necesaria para el correcto manejo de este caso, en la cual los internistas como moderadores fueron fundamentales pues permitió una visión integral del enfermo(AU)

Introduction: Sarcoidosis is a multisystemic disorder of unknown cause. The course of the disease is variable, it can be asymptomatic with spontaneous resolution or progress with organ failure, even death. Objective: To describe the diagnostic protocol for suspected sarcoidosis. Case report: A clinical case is report here with several apparently unrelated symptoms and signs, in which an algorithm described in foreign literature is implemented. Conclusions: Interdisciplinarity was necessary for the correct management of this case, in which internists as moderators were fundamental because it allowed a comprehensive vision of the patient(AU)

Sarcoid-like granulomatous myositis-associated hypercalcemia. An infrequent case to consider / Hipercalcemia asociada a miositis granulomatosa sarcoidea simil- sarcoidea. Un caso infrecuente a considerar

Abstract PTH-independent hypercalcemia due to granulomatous disease is well-documented and sarcoidosis is the most characteristic disease, although there are others. We describe a case of sarcoid-like granulomatous myositis. An 87-year-old man was referred with tetraparesis and hypercalcemia (albumin-corrected calcium of 13.4 mg/dl) following a trip to the Caribbean. The evaluation showed a suppressed PTH, 25-hydroxy vitamin D of 7.5 ng/ml, 18F-FDG PET/CT showed markedly increased uptake in intercostal, back, shoulder, but tock and thigh muscles and a deltoid biopsy confirmed extensive granulomatous myositis. He was prescribed glucocorticoids which resulted in normalized plasma calcium levels and complete recovery from tetraparesis. Sarcoid-like granulomatous myositis should be incorporated into the differential diagnosis of PTH-independent hypercalcemia, especially in the absence of clinical features of sarcoidosis and with special emphasis on the use of 18F-FDG PET/CT to ensure a correct approach.

Resumen La hipercalcemia PTH-independiente asociada a enfermedades granulomatosas está bien documentada y la sarcoidosis es la enfermedad más característica, a pesar de que existen otras. Des cribimos un caso de miositis granulomatosa simil-sarcoidea. Un hombre de 87 años consultó por tetraparesia e hipercalcemia (calcio corregido por albúmina 13.4 mg/dl) luego de un viaje al Caribe. La evaluación mostró una PTH suprimida, 25-hidroxivitamina D 7.5 ng/ml, 18F-FDG PET/CT mostró marcado aumento de captación a nivel de musculatura intercostal, dorsal, deltoidea, glúteos y muslos. Una biopsia deltoidea confirmó una miositis granulomatosa extensa. Se prescribieron glucocorticoides, resultando en normalización del calcio plasmático y completa recuperación de la tetraparesia. La miositis granulomatosa simil-sarcoidea debe ser incorporada den tro del diagnóstico diferencial de la hipercalcemia PTH-independiente, especialmente en ausencia de hallazgos clínicos de sarcoidosis y con especial énfasis en el uso de 18F-FDG PET/CT para su correcta aproximación.

Diagnóstico diferencial en pacientes con granulomas en biopsias de pulmón, pleura y/o ganglios mediastínicos del Instituto Nacional del Tórax / Differential diagnosis in patients with granulomas in the biopsy of the lung, pleura and/or mediastinal nodes

Las enfermedades granulomatosas incluyen una amplia gama de enfermedades. Sin embargo, en la práctica clínica, muchos casos de enfermedad granulomatosa permanecen sin etiología después del examen histológico. Nuestro objetivo fue determinar, a partir de las biopsias de pulmón, pleura y ganglios linfáticos mediastínicos, en los que se informaron granulomas, las características clínicas y los diagnósticos de estos pacientes. Así también la mortalidad a un año de seguimiento. Metodología: Analizamos retrospectivamente biopsias de pulmón, pleura y/o ganglios linfáticos mediastínicos con granulomas de 75 pacientes del Instituto Nacional del Tórax (2012-2016), sus características clínicas y de laboratorio. La información se obtuvo de los registros médicos. Los datos de mortalidad se obtuvieron del registro civil. Resultados: Se determinó una etiología en todos los casos, excepto en 3 (4%). Los diagnósticos más frecuentes fueron tuberculosis (n = 37; 49%) y sarcoidosis (n = 18; 24%). Otras causas fueron silicosis (5,3%), vasculitis (4%) y neumonitis por hipersensibilidad (2,7%). Los pacientes con tuberculosis (TB) tenían parámetros inflamatorios más altos, como velocidad de eritrosedimentación y proteína C reactiva. Además, sólo se encontraron granulomas con necrosis caseosa en pacientes con tuberculosis. En cambio, los pacientes con sarcoidosis tenían lesiones cutáneas y una mayor frecuencia de linfadenopatías. Cuatro (5.3%) pacientes fallecieron a un año de seguimiento: dos debido a neumonía, uno por hipersensibilidad crónica y uno por TB. Conclusión: La tuberculosis y la sarcoidosis fueron las causas más frecuentes de granulomas respiratorios en este estudio retrospectivo. Se logró determinar una etiología en el 96% de los casos, considerando variables clínicas, de laboratorio e histopatológicas para un diagnóstico diferencial correcto.

Granulomatous diseases comprise a wide range of pathologies. However, in clinical practice, many pulmonary granulomas remain without etiology after the histologic examination. Our aim was to determine from the biopsies of the lung, pleura and mediastinal lymph nodes in which granulomas were reported, the clinical characteristics and diagnoses of the patients. Methodology: We analyzed retrospectively biopsies of the lung, pleura and mediastinal lymph nodes with granulomas from 75 patients handled at our institution (2012-2016), as well as their clinical and laboratory data. The information was obtained from medical records. A one-year mortality date was obtained from the civil registry. Main results: A cause was determined in all the cases, except in three of them (4%). The most frequent diagnoses were tuberculosis (n =37; 49%) and sarcoidosis (n =18; 24%). Other causes were silicosis (5.3%), vasculitis (4%) and hypersensitivity pneumonitis (2.7%). Patients with tuberculosis (TB) had higher inflammatory parameters such as erythrocyte sedimentation rate and C-reactive protein. Besides granulomas with caseous necrosis were only found in TB patients. Instead, patients with sarcoidosis had skin lesions and a higher frequency of lymphadenopathy. Four patients (5.3%) died in a one-year of follow-up: two of them because of pneumonia and the other two patients because of chronic hypersensitivity and TB respectively. Conclusion: Tuberculosis and sarcoidosis were the most common causes of respiratory granulomas in this retrospective study. A specific cause was determined in 96% of cases, considering clinical, laboratory and histopathological variables to do a right differential diagnosis.

Renal manifestations of sarcoidosis: from accurate diagnosis to specific treatment

ABSTRACT Sarcoidosis is a multisystem granulomatous disease characterized by epithelioid noncaseating granulomas associated with clinical and radiologic findings. The cause of this disease is still uncertain. Sarcoidosis affects mostly lungs and lymph nodes and is not usually considered a urological disease, therefore, this etiology may be overlooked in several urological disorders, such as hypercalcemia, hypercalciuria and nephrolithiasis. It affects all races and genders. This review aims to describe the urological manifestations of sarcoidosis and to elucidate how the disease may affect the management of numerous urological conditions.

Tomografía por emisión de positrones en el diagnóstico de sarcoidosis y síndrome de Löfgren / Tomography by emission of positrons in the diagnosis of sarcoidosis and Löfgren's syndrome

La sarcoidosis es una enfermedad granulomatosa no caseificante, multisistémica, de causa desconocida, que compromete el pulmón y los ganglios linfáticos mediastinales entre el 90-95 por ciento de los casos. También puede afectar otros órganos como las glándulas salivales, piel, ojos, hígado, bazo, corazón, huesos y sistema nervioso central. El compromiso torácico representa la principal causa de morbilidad con unas 10/100 000 personas al año y mortalidad. Nuestro estudio tuvo como objetivo presentar a un paciente de 45 años de edad atendido por tener manifestaciones clínicas, paraclínicas y radiográficas que permitieron establecer, sin confirmar mediante estudio histológico, el diagnóstico de una forma aguda de sarcoidosis. Su forma clínica de expresión coincidió con el síndrome de Löfgren con ensanchamiento mediastinal bilateral por linfoadenopatía hiliar, síndrome febril, eritema nudoso y artritis aguda en miembros inferiores, que desarrollan entre un 20-30 por ciento de los pacientes con sarcoidosis. Se le realizó una tomografía por emisión de positrones, cuyos resultados ofrecieron elementos diagnósticos propios de un proceso inflamatorio pulmonar alejado de las características propias de una neoplasia maligna. Después de una profunda evaluación del riesgo-beneficio, se impuso tratamiento inmunosupresor con esteroides a dosis elevadas y seguimiento estrecho. Observamos una evolución muy positiva e inmediata desde el punto de vista clínico y radiográfico. Luego de varias semanas de tratamiento se apreciaron los cambios con marcada mejoría hasta pasados 3 meses que constatamos prácticamente una casi desaparición de las imágenes radiográficas(AU)

Sarcoidosis is a multisystemic, non-caseating granulomatous disease of unknown cause that involves the lung and the mediastinal lymph nodes in between 90 percent and 95 percent of cases. It can also affect other organs, such as the salivary glands, skin, eyes, liver, spleen, heart, bones, and central nervous system. Thoracic involvement represents the main cause of morbidity and mortality in patients with this entity, which occurs in about 10 / 100,000 people a year. Our study aimed to present a 45-year-old patient treated for presenting clinical, paraclinical and radiological manifestations that allow the diagnosis of an acute form of sarcoidosis to be established without confirming by histological study. Its clinical form of expression showed the presence of Löfgren's syndrome with bilateral mediastinal widening due to hilar lymphadenopathy, febrile syndrome, erythema nodosum, and acute arthritis in the lower limbs, which 20-30 percent of patients with sarcoidosis develop. A positron emission tomography scan was performed and its results offered us diagnostic elements typical of a pulmonary inflammatory process far from the characteristics of a malignant neoplastic process(AU)

Paracoccidioidomycosis in a child: exuberant presentation due to the inadvertent use of systemic corticosteroids

Abstract: Paracoccidioidomycosis is a fungal infection that occurs in immunocompetent patients and are classified into two forms: the acute-subacute form, predominantly in young patients, and the chronic adult form that may present classic ulcerated lesions to rare sarcoid ones. We present the case of a boy whose infection began with sarcoid lesions but, after being mistakenly diagnosed with cutaneous sarcoidosis and treated (for three years) with prednisone, developed painful ulcerations throughout the body. After the correct diagnosis, with evidence of the fungus in histopathological and mycological examinations, the patient was properly treated with itraconazole for eight months and evolved with total remission of the disease.

Sarcoidosis al descubierto: Lo que deberíamos informar en las imágenes torácicas / Sarcoidosis Uncovered: What we should Report in Thoracic Image

La sarcoidosis es una enfermedad granulomatosa no caseificante, multisistémica, de causa desconocida, que compromete al pulmón y a los ganglios linfáticos mediastinales entre el 90 y el 95% de los casos. También puede afectar otros órganos, como las glándulas salivales, piel, ojos, hígado, bazo, corazón, huesos y sistema nervioso central. La sarcoidosis tiene una baja prevalencia en Latinoamérica y es subdiagnosticada debido a la alta frecuencia de otros trastornos similares, como tuberculosis, lepra y micosis profundas. El diagnóstico presuntivo se establece con hallazgos imagenológicos característicos dentro de un contexto clínico apropiado y se confirma con la evidencia histológica de granulomas no caseificantes de células epiteliales, en ausencia de otras etiologías. Los hallazgos torácicos incluyen la afectación pulmonar, ganglionar y bronquial, los cuales son detectados a través de la radiografía (Rx) y tomografía computada (TC) de tórax, siendo esa última más sensible y específica. En este artículo, resaltamos la importancia de reconocer los patrones de presentación típicos y atípicos de la sarcoidosis en Rx y TC, así como la relevancia de las imágenes torácicas como elemento clave en el algoritmo diagnóstico de esa patología. También describimos la utilidad de la resonancia magnética (RM), como método adicional para el diagnóstico en casos de afectación cardíaca y el papel de la tomografía por emisión de positrones (PET-CT) en el seguimiento terapéutico.

Sarcoidosis is a non-caseating granulomatous, multisystemic disease of unknown cause that involves the lung and mediastinal lymph nodes in 90-95% of cases. It can also affect other organs such as the salivary glands, skin, eyes, liver, spleen, heart, bones and the central nervous system. Sarcoidosis has a low prevalence in Latin America and it is underdiagnosed due to the high frequency of other similar disorders such as tuberculosis, leprosy and deep mycosis. The presumptive diagnosis is established based on characteristic imaging findings within an appropriate clinical setting and is confirmed by histological evidence of non-caseating epithelioid cell granulomas, in the absence of other etiologies. Thoracic imaging findings include pulmonary, nodal and bronchial involvement, which are detected on chest radiography (CXR) and computed tomography (CT), this last one having a higher sensitivity and specificity. In this article, we highlight the importance of recognizing the typical and atypical presentation patterns of sarcoidosis on CXR and CT, as well as the relevance of thoracic images as key elements in the diagnostic algorithm of this pathology. We also describe the usefulness of magnetic resonance (MR) imaging as an additional method for diagnosis in cases of cardiac involvement and the role of positron emission tomography (PET-CT) in therapeutic follow-up.

Enfermedad granulomatosa hepática / Hepatic granulomatous disease

Resumen Los granulomas son lesiones circunscritas compuestas principalmente por células mononucleares que surgen en respuesta a estímulos antigénicos pobremente degradables. Se encuentran en 2 a 15 % de las biopsias hepáticas; su hallazgo puede significar desde un fenómeno incidental, hasta la manifestación de una enfermedad sistémica de origen infeccioso, autoinmune o neoplásico. El cuadro clínico suele apuntar a la patología subyacente, sin embargo, la lista de condiciones asociadas es amplia y difiere con base en los antecedentes epidemiológicos y a las características basales del paciente. El elemento de mayor utilidad para su estudio es la historia clínica exhaustiva, con énfasis en viajes recientes, exposición de riesgo y consumo de fármacos o alimentos crudos o exóticos. El análisis histopatológico detallado puede auxiliar en la identificación de la etiología, por ejemplo, la presencia de granulomas epitelioides con necrosis caseosa indica tuberculosis y su ausencia, sarcoidosis; la abundancia de eosinófilos es señal de reacciones farmacológicas o infecciones parasitarias; la presencia de cuerpos extraños puede ser la causa de la enfermedad granulomatosa hepática. En este artículo describimos los aspectos clínico-patológicos básicos de esta enfermedad y proveemos un breve resumen de las etiologías más comunes, principalmente en la región de Latinoamérica.

Abstract Granulomas are circumscribed lesions mainly composed of mononuclear cells that arise in response to poorly degradable antigenic stimuli. They are found in 2-15 % of liver biopsies and the meaning of their finding can range from an incidental phenomenon to the manifestation of a systemic disease of infectious, autoimmune or neoplastic origin. Clinical presentation usually points at the underlying pathology; however, the list of associated conditions is extensive, and differs based on patient epidemiological history and baseline characteristics. The most useful element for their study is a thorough medical history, with an emphasis on recent trips, exposures and consumption of drugs or raw or exotic foods. Detailed histopathological analysis may help identify the etiology. For example, the presence of epithelioid granulomas with caseous necrosis indicates tuberculosis and, its absence, sarcoidosis; eosinophil abundance can be associated with drug reactions or parasitic infections; and the presence of foreign bodies can be the cause of granulomatous liver disease (GLD). In this article, we describe the basic clinical-pathological aspects of GLD, and provide a brief summary of the most common etiologies, with an emphasis on the Latin-American region.

Childhood Sarcoidosis mimicking tuberculosis: a case report

Abstract Sarcoidosis is a rare multisystem chronic inflammatory disease in children. We present a case of a five-year-old child with clinical features mimicking several diseases, including tuberculosis. After failure of treatment based on the suspected diagnosis, an axillary lymph node biopsy showed noncaseating granulomas compatible with sarcoidosis and appropriate treatment was then started.

Paracoccidioidomycosis manifested by sarcoidosis-like cutaneous lesions and caused by Paracoccidioides brasiliensis sensu stricto (S1a)

Abstract: Molecular studies have shown more than one species of the genus Paracoccidioides to be the causal agent of paracoccidioidomycosis. Efforts have been made to correlate the identified species with epidemiological and clinical data of patients, aiming to determine the real meaning and impact of new species. Bearing this objective in mind, the authors report a clinical case of paracoccidioidomycosis, from São Paulo state, Brazil, that manifested as uncommon sarcoid-like cutaneous lesions and was caused by Paracoccidioides brasiliensis sensu stricto (S1a). The patient was treated with itraconazole 200mg/day for 12 months, with complete clinical remission.

Distúrbios de condução e arritmias na sarcoidose cardíaca - relato de caso / Conduction disturbances and arrhythmias in cardiac sarcoidosis - case report

A forma cardíaca isolada da Sarcoidose é pouco frequente. no entanto, o envolvimento cardíaco na sarcoidose é mais prevalente e ocorre em 5 % desses pacientes. O diagnóstico de sarcoidose cardíaca é um desafio por causa das manifestações inespecíficas, sendo a sensibilidade e especificidade das modalidades diagnósticas limitadas. Este relato de caso teve por objetivo descrever o caso de um paciente sem diagnóstico prévio de sarcoidose com arritmias e distúrbio de condução ventricular compatíveis com acometimento cardíaco da doença. Optou-se para o tratamento um implante de marcapasso definitivo e terapia com corticosteroides

The isolated cardiac form of sarcoidosis is infrequent. However, cardiac involvement in sarcoidosis is more prevalent and occurs in 5% of these patients. The diagnosis of cardiac sarcoidosis is a challenge because of non-specific manifestations, and the sensitivity and specificity of the diagnostic modalities are limited. This case report aimed to describe the case of a patient without previous diagnosis of sarcoidosis with arrhythmias and ventricular conduction disturbance compatible with cardiac involvement of the disease. A definitive pacemaker implant and corticosteroid therapy were chosen for the treatment

Cutaneous sarcoidosis and secondary open-angle glaucoma in a patient: case report and literature review

Abstract The current report presents the case of a 41-year-old male patient with a two-month history of asthenopia and plaques in the frontotemporal region. Computed tomography revealed bilateral hilar and mediastinal lymphadenopathy. Ophthalmological examination showed elevated intraocular pressure. Skin biopsy demonstrated aa dermal inflammatory infiltrate composed mainly of epithelioid cells and a few multinucleated giant cells, but no obvious lymphocytes. Findings of thorough physical examinations and auxiliary examinations suggested the presence of cutaneous sarcoidosis and secondary open-angle glaucoma. Treatment consisted mainly of oral methylprednisolone. Skin lesions, bilateral hilar, and mediastinal lymphadenopathy resolved completely. Cutaneous sarcoidosis is often accompanied by extracutaneous organ involvement. Dermatologists must be aware of the disease's extracutaneous manifestations to ensure accurate diagnosis for further treatments.

Ocular sarcoidosis masked by positive IgM for toxoplasmosis / Sarcoidose ocular mascarada por IgM positivo para toxoplasmose

ABSTRACT We report a case of ocular sarcoidosis with positive immunoglobulin (Ig) M and IgG serology for toxoplasmosis. The patient was a young female with red painful eyes, bilateral eyelid edema, and panuveitis with periphlebitis. In laboratory testing, she was IgM and IgG positive for toxoplasmosis and anergic in the tuberculin test. Topical treatment for anterior uveitis and oral antibiotics for toxoplasmosis were started, without improvement. Orbit tomography showed increased lacrimal glands bilaterally, and chest X-ray radiographic findings were consistent with pulmonary sarcoidosis, which supported the presumed ocular sarcoidosis diagnosis. The patient was treated with oral prednisone and methotrexate without antibiotics. She showed clinical and vision improvement without recurrences during the 1-year follow-up. Ocular sarcoidosis is an important differential diagnosis requiring careful anamnesis and ophthalmological examinations. Ancillary tests, such as X-ray radiography, tomography, and clinical and laboratory evaluations may help rule out other causes. Treatment mainly consists of corticosteroids and immunosuppression.

RESUMO Relatamos um caso de sarcoidose ocular com IgM e IgG positivos para toxoplasmose. Mulher jovem com quadro ocular bilateral de dor, vermelhidão, edema palpebral e panuveíte com periflebite. Os testes laboratoriais mostraram IgM e IgG positivos para toxoplasmose, teste tuberculínico anérgico. Realizou-se tratamento tópico da uveíte anterior e antibióticos orais para toxoplasmose, sem melhora. Tomografia de órbita mostrou aumento das glândulas lacrimais bilaterais e radiografia de tórax foi consistente com sarcoidose pulmonar, auxiliando no diagnóstico de sarcoidose ocular presumida. Iniciou-se prednisona e metotrexato orais, sem antibióticos, com melhora clínica e oftalmológica, sem recidivas em 1 ano de follow-up. Sarcoidose ocular é um importante diagnóstico diferencial que exige anamnese e exame oftalmológico cuidadosos. Exames complementares, como raio-X, tomografia computadorizada e avaliação clínica e laboratorial ajudam na avaliação e exclusão de outras causas. O tratamento consiste principalmente no uso de corticosteróide e imunossupressores.

Paracoccidioidomycosis with sarcoid-like lesions: a diagnostic challenge

Abstract Clinical presentation of paracoccidioidomycosis (PCM) can be diverse. Morphology and quantity of skin lesions depends on interactions between host immunity and fungus virulence. Diagnosis can be a challenge considering that this fungus has low virulence and some individuals have immunity to microorganism, which results in well-marked granulomas without visible microorganisms. We report herein a clinical presentation of sarcoid-like PCM, initially diagnosed as tuberculoid leprosy. This rare type of PCM is often mistaken for other types of chronic granulomatous diseases. Diagnosis was confirmed after 4 years when a special stain analysis helped in the identification of the specific etiologic agent.

Sarcoidosis subcutánea sin compromiso sistématico / Subcutaneous sarcoidosis without compromise systemic

We present the case of a 52 year old woman with a history of bilateral ovarian cancer operated. The patient attended the dermatology unit for a sudden onset of a left plantar nodule of three weeks of evolution, painful on walking, with no other history in particular. At physical examination, the patient presented a surface nodule slightly hyperpigmented, with ill-defined edges, round shape, firm consistency, mobile and painful to compression, one cm of diameter, in the middle third of the left plant. No concomitant scars are seen. Doppler soft tissue ultrasound is requested, showing a granulomatous nodule on the surface of the plantar aponeurosis. The biopsy lesion revealed non-caseating granulomas in cell tissue, PAS and Ziehl-Neelsen staining are negative A left plantar subcutaneous sarcoidosis is diagnosed, systemic involvement is ruled out. Within the first year of follow-up, there are no new lesions or findings compatible with systemic disease. (AU)

Sarcoidosis sistémica: un reto diagnóstico en pediatría. Reporte de un caso / Systemic sarcoidosis: a diagnostic challenge in pediatrics. Case report

La sarcoidosis es una enfermedad inflamatoria granulomatosa de etiología desconocida, evidenciada con mayor frecuencia en adultos jóvenes, que puede comprometer diversos órganos, principalmente, el pulmón, los ganglios linfáticos, los ojos y la piel. La presencia de dicha enfermedad enla población pediátrica es poco frecuente y su denominación en pediatría se realiza basada en la edad y las manifestaciones clínicas del paciente. El objetivo del siguiente reporte es presentar un caso de sarcoidosis sistémica en un paciente adolescente sin compromiso pulmonar, con manifestaciones extrapulmonares graves. Se trata de un paciente de 15 años, quien debutó con síntomas inespecíficos (emesis, pérdida de peso). Estudios radiológicos, sin compromiso pulmonar aparente; sin embargo, con presencia de hallazgos sugestivos de histiocitosis de células de Langerhans. Se realizó un estudio histopatológico de componente óseo y linfático, cuyo resultado evidenció la presencia de una enfermedad granulomatosa crónica no necrotizante tipo sarcoidosis. La sarcoidosis infantil es una entidad rara y difícil de diagnosticar, dada, principalmente, la ausencia de biomarcadores específicos para su diagnóstico.

Sarcoidosis is a granulomatous inflammatory disease of unknown etiology, evidenced most often in young adults, which can compromise several organs, mainly lung, lymph nodes, eyes and skin. The presence of the disease in pediatric population is rare. Denomination in pediatrics is made based on age and clinical manifestations of the patient. The aim of this report is to present a case of systemic sarcoidosis in a pediatric patient without lung involvement with severe extrapulmonary manifestations. Fifteen year old patient who debuted with nonspecific symptoms (emesis, weight loss). Radiographic studies without lung involvement but with findings suggestive of Langerhans cell histiocytosis; however, histopathological report (bone and lymph) showed the presence of chronic granulomatous nonnecrotizing disease, sarcoidosis type. Childhood sarcoidosis is a rare and difficult entity to diagnose, mainly by the lack of specific biomarkers for diagnosis.

Sarcoidose ocular: a nossa realidade nos últimos seis anos / Ocular sarcoidosis: our reality for the past six years

RESUMO Introdução: Na sarcoidose, as manifestações oculares são comuns e podem constituir a manifestação inicial da doença ou mesmo a única. O objetivo deste trabalho foi analisar os parâmetros demográficos, manifestações clínicas, terapêutica e principais complicações oculares em doentes com sarcoidose ocular. Métodos: Estudo descritivo e retrospectivo que incluiu doentes com o diagnóstico de sarcoidose ocular, observados nas consultas de Inflamação Ocular e de Doenças Auto-Imunes do Hospital Prof. Doutor Fernando Fonseca, no período entre 2009 e 2015. Resultados: Foram identificados 11 doentes com o diagnóstico de sarcoidose ocular, com predomínio do sexo feminino (54,5%) e caucasianos. A média da idade ao diagnóstico foi de 45±14 anos. A sarcoidose manifestou-se de forma exclusivamente ocular em 36% dos casos. O envolvimento ocular foi a manifestação inicial em 90,9% dos casos. Identificaram-se 9 casos de uveíte, 1 de esclerite anterior nodular e 1 de queratite intersticial. O tratamento com corticoterapia tópica foi realizado em 100% dos casos, sendo o tratamento único em apenas 1 doente. Nos restantes, foi necessário associar corticoterapia oral. Em 4 desses doentes, pela gravidade da doença e atingimento binocular, utilizou-se também corticoterapia pulsada endovenosa. O tratamento adjuvante imunossupressor mais frequentemente utilizado foi o metotrexato (45%). Um doente necessitou de terapia biológica com infliximabe para controle da doença. Conclusão: A manifestação ocular mais comum foi a uveíte, com predomínio da panuveíte. O tratamento mais utilizado e com maior taxa de controle da doença foi a corticoterapia sistêmica em associação com o metotrexato.

ABSTRACT Purpose: In sarcoidosis, ocular manifestations are common and can be the initial or even the only clinical manifestation. The aim of this study was to analyze the demographic parameters, clinical manifestations, treatment and the major ocular complications in patients with ocular sarcoidosis. Methods: We conducted a descriptive and retrospective study that included patients with the diagnosis of ocular sarcoidosis, followed by inflammatory ophthalmology and immune-mediated disease consults at the Prof. Doutor Fernando Fonseca Hospital, between 2009 and 2015. Results: Eleven patients with the diagnosis of ocular sarcoidosis were identified, with a predominance of females (54,5%) and Caucasians. The average age at diagnosis was 45 ± 14 years. Sarcoidosis was exclusively ocular in 36%. The first manifestation of sarcoidosis was eye disease in 90.9 % of cases. Nine cases of uveitis, one of nodular scleritis and one of interstitial keratitis were observed. Topical corticoid treatment was applied in 100% of cases, with only one achieving remission of the disease. Oral corticoid treatment was necessary in 10 cases, four of which needed a high dose methylprednisolone induction. Methotrexate was the adjunctive immunosuppressive treatment of choice in 45% of cases. There was one refractory case for conventional immunosuppressive therapy, having achieved remission with biologic agent infliximab. Conclusion: Uveitis was the commonest ocular manifestation, and there was a predominance of panuveitis. Systemic corticoid and methotrexate were the most used immunosuppressive treatments for maintaining the controlled stated of the disease.