Encefalitis amebiana granulomatosa por Balamuthia mandrillaris en Chile confirmada con secuenciación de ADN / Granulomatous amoebic encephalitis due to Balamuthia mandrillaris in Chile confirmed with DNA sequencing

Las enfermedades causadas por amebas de vida libre son infecciones oportunistas que pueden tener un curso fatal. Pueden producir afecciones diseminadas graves con compromiso del sistema nervioso central, como la encefalitis amebiana granulomatosa. Esta infección es cada vez más frecuente en América Latina, aunque se reconocen tardíamente debido a la similitud con otras patologías o porque es inusual incluirla en el diagnóstico diferencial. Comunicamos un caso fatal de una encefalitis amebiana granulomatosa por Balamuthia mandrillaris en una niña de 10 años. Destacamos la gravedad de la afectación cerebral y la falta de esquemas antimicrobianos validados para su tratamiento. Hoy en el mundo esta infección es considerada una enfermedad emergente, influenciada por el cambio climático, lo que llama a estar atentos a su presencia.

Diseases caused by free-living amoebae are opportunistic infections that can have a fatal course. They can cause very serious disseminated conditions with involvement of the central nervous system such as granulomatous amoebic encephalitis. This infection has become more common in Latin America, although its recognition is late due to the similarity with other pathological conditions or because it is unusual to include it in the differential diagnosis. We report a fatal case of granulomatous amoebic encephalitis due to Balamuthia mandrillaris in a 10-year-old girl. We highlight the severity of the brain involvement and the lack of validated schemes for its treatment. Today in the world this infection is considered an emerging disease, influenced by climate change, which calls for being attentive to its presence.

Cryptococcoma hipofisiario: un extraño caso de hipofisitis granulomatosa secundaria / Pituitary cryptococcoma: a strange case of secondary granulomatous hypophysitis

Resumen La hipofisitis es una afección con baja incidencia y prevalencia. Asimismo, las infecciones profundas por hongos en pacientes inmunocompetentes también re presentan un fenómeno infrecuente. Más raro aún es el caso que se describe a continuación, en donde se conjugan estos dos elementos mencionados, a saber: cryptococcoma hipofisario o hipofisitis granulomatosa causado por dicho patógeno en un huésped sin altera ción de la respuesta inmune. Luego de una búsqueda realizada en PubMed, existen limitados casos en la literatura médica de hipofisitis granulomatosa por Cryptococcus spp., que simuló por manifestaciones clínicas e imagenológicas un macro adenoma hipofisario. No encontramos informes en los que no haya evidencia de afectación del tejido meníngeo. La etiología micótica está escasamente descrita en las guías de referencia para hipofisitis y creemos que Cryp tococcus spp. debe ser tenido en cuenta en el diagnóstico diferencial de las hipofisitis granulomatosas secundarias dado que es un patógeno ubicuo y el tratamiento es sustancialmente diferente a otras entidades. Cobra mayor relevancia ante la tendencia actual al uso de glucocorticoides sistémicos a altas dosis para el tratamiento de la hipofisitis, que podría haber gene rado mayor daño de no haberse hecho el diagnóstico correcto.

Abstract Hypophysitis is a pathology with low incidence and prevalence. Likewise, deep fungal infections in immuno competent patients also represent a rare phenomenon. Even rarer is the case described below, where these two mentioned elements are combined, namely: pituitary cryptococcoma or granulomatous hypophysitis caused by said pathogen in a host without altered immune response. After research in PubMed, there are limited cases in the medical literature of granulomatous hypophysitis caused by Cryptococcus spp., which simulated a pituitary macroadenoma by clinical and imaging manifestations. We did not find reports in which there is no evidence of involvement of the meningeal tissue. The fungal etiology is scarcely described in the reference guidelines for hypophysitis and we believe that Cryptococcus spp. it should be taken into account in the differential diagnosis of secondary granuloma tous hypophysitis since it is a ubiquitous pathogen and the treatment is substantially different from other entities. It becomes more relevant given the current trend towards the use of high-dose systemic glucocorticoids for the treatment of hypophysitis, which could have generated greater damage if the correct diagnosis had not been made.

Hallazgos en imágenes por resonancia magnética de pacientes con tuberculoma intracraneal en un centro privado de Lima, Perú / Magnetic resonance imaging findings of patients with intracranial tuberculoma in a private center in Lima, Peru

RESUMEN Una de las formas del cuadro inflamatorio-infeccioso de la tuberculosis, problema mayor de salud pública en América Latina, Asia y África y con potencial extensión mundial, es la forma parenquimal tumoral en el encéfalo, conocida como granuloma tuberculoso o tuberculoma. Este cuadro condiciona comúnmente efectos de masa y edema perilesional, los cuales suelen confundirse con manifestaciones radiológicas de otros granulomas y masas neoplásicas, en especial, las de alto grado. Son por ello necesarios estudios minuciosos de carácter clínico, epidemiológico, exámenes de laboratorio y, sobre todo, de imágenes por resonancia magnética. Se comparten en este artículo algunas observaciones de imágenes de casos comprobados de granuloma tuberculoso en el encéfalo, en pacientes examinados en un centro privado de diagnóstico radiológico por resonancia magnética en Lima. Los hallazgos podrían ayudar en el diagnóstico relativamente temprano de casos, previniéndose así el avance de la enfermedad y sus consecuencias, así como el empleo de métodos diagnóstico-terapéuticos invasivos.

ABSTRACT One of the forms of the inflammatory-infectious condition of tuberculosis, a major public health problem in Latin America, Asia and Africa with a potential worldwide spread, is the parenchymal tumor form in the brain, known as tuberculous granuloma or tuberculoma. This form commonly induces a mass effect and perilesional edema, which are often confused with the radiological manifestations of other granulomas and neoplastic masses, especially high-grade ones. Therefore, it is necessary to conduct careful clinical and epidemiological studies, laboratory tests and, above all, magnetic resonance imaging explorations. In this article, we share some MRI observations of proven cases of tuberculous granulomas in the brain, in patients seen at an MRI diagnostic radiological center. The findings could help in a relatively early diagnosis of cases, thus preventing the progression of the disease with its well-known consequences, and the use of invasive diagnostic/therapeutic methods.

Doença granulomatosa crônica: características clínicas, seguimento e terapêutica de cinco pacientes pediátricos / Chronic granulomatous disease: clinical characteristics, follow-up, and therapy of 5 pediatric patients

Introdução: A doença granulomatosa crônica (DGC) é caracterizada por um defeito na capacidade microbicida das células fagocíticas (monócitos e neutrófilos), com alta mortalidade se não diagnosticada precocemente. Os pacientes apresentam infecções recorrentes ou graves, suscetibilidade a granulomas em órgãos profundos, doenças autoimunes e doença inflamatória intestinal. Objetivo e Método: Relato de aspectos clínicos e do tratamento de cinco pacientes com doença granulomatosa crônica. Resultados: Cinco pacientes, três meninos, medianas de idade no início dos sintomas e diagnóstico de 8 meses e 48 meses, respectivamente, foram estudados por um período de 10 anos. Pneumonia (5/5) e doença micobacteriana (3/5) foram as manifestações iniciais mais comuns. Alterações pulmonares foram observadas em todos os casos. Mutações nos genes CYBB e NCF1 foram identificadas em três casos. Antibioticoprofilaxia foi instituída em todos os pacientes e três foram submetidos ao transplante de células tronco-hematopoiéticas (TCH), aos 7, 18 e 19 anos e com sobrevida atual entre 4 a 5 anos. Conclusão: O monitoramento cuidadoso de infecções graves com tratamento imediato foi crucial para a sobrevivência. O TCH, mesmo ao final da adolescência, promoveu a cura da DGC em três pacientes.

Introduction: Chronic granulomatous disease (CGD) is characterized by a defective microbicidal capacity of phagocytic cells (monocytes and neutrophils) with high mortality if not early diagnosed. Patients have recurrent or severe infections and are susceptible to granulomas in visceral organs, autoimmune diseases, and inflammatory bowel diseases. Objective and Method: To report the clinical features and treatment of 5 patients with CGD. Results: Five patients, 3 boys, with median ages at symptom onset and diagnosis of 8 months and 48 months, respectively, were followed for 10 years. Pneumonia (5/5) and mycobacterial disease (3/5) were the most common initial manifestations. Pulmonary changes were observed in all cases. Mutations in the CYBB and NCF1 genes were identified in 3 cases. All patients received antibiotic prophylaxis. Three patients underwent a hematopoietic stem cell transplant (HSCT) at 7, 18, and 19 years, with current survival of 4 to 5 years. Conclusion: Careful monitoring for severe infection with prompt treatment was crucial for survival. Even though HSCT was performed in late adolescence, it promoted the cure of CGD in 3 patients.

Chronic granulomatous colitis due to tuberculosis / Colitis crónica granulomatosa por tuberculosis

Abstract Chronic granulomatous colitis secondary to tuberculosis is a rare manifestation of extrapulmonary tuberculosis. This condition is very difficult to identify, as most of its symptoms are nonspecific, resulting in a late diagnosis, considering that the disease is curable and preventable. Case: a 42-year-old man with 6/10 abdominal pain in the right iliac fossa. On physical exam, there was pain on palpation in the right iliac fossa, with mild pain on deep palpation and no signs of peritoneal irritation. Laboratory tests showed no signs of local or disseminated infection, but histopathology reported chronic colitis due to Mycobacterium tuberculosis. Discussion: intestinal tuberculosis is the sixth cause of extrapulmonary infection, most often located in the ileocecal region. Its signs and symptoms are fever, fatigue, weight loss and abdominal pain. It is treated with antitubercular medications for an average of six months, with subsequent medical improvement and endoscopic remission. (Acta Med Colomb 2022; 48. DOI:https://doi.org/10.36104/amc.2023.2676).

Resumen La colitis granulomatosa crónica secundaria a tuberculosis es una manifestación inusual de la tuberculosis extrapulmonar. Esta entidad patológica es muy difícil de identificar, ya que la mayoría de sus síntomas son inespecíficos, resultando en un diagnóstico tardío, teniendo en cuenta que la enfermedad es curable y prevenible. Caso: hombre de 42 años de edad con cuadro de dolor abdominal en fosa iliaca derecha con intensidad 6/10. Al examen físico se encontró dolor a la palpación en fosa iliaca derecha, con dolor leve a la palpación profunda sin signos de irritación peritoneal. Los paraclínicos no mostraban signos de infección local o diseminada, pero el estudio histopatológico reportó colitis crónica por mycobacterium tuberculosis. Discusión: la tuberculosis intestinal, es la sexta causa de infección extra pulmonar, ubicándose en la mayoría de oportunidades en la región ileocecal, las manifestaciones clínicas son fiebre, fatiga, pérdida de peso y dolor abdominal, el manejo se hace con medicamentos antituberculosis por un periodo de seis meses en promedio, con posterior mejoría médica y remisión endoscópica. (Acta Med Colomb 2022; 48. DOI:https://doi.org/10.36104/amc.2023.2676).

Abscesos cerebrales por Dermacoccus nishinomiyaensis como primera manifestación de enfermedad granulomatosa crónica / Dermacoccus nishinomiyaensis brain abscesses as the first manifestation of chronic granulomatous disease

La enfermedad granulomatosa crónica es una inmunodeficiencia primaria poco frecuente, que secaracteriza por defectos en alguna de las subunidades del complejo enzimático nicotinamida adeninadinucleótido fosfato oxidasa, que ocasiona un déficit en la generación de anión superóxido por losfagocitos. Dentro de este grupo, la forma ligada al X es la más frecuente. Se reporta el caso de una paciente de sexo femenino de 2 años con enfermedad granulomatosa crónica autosómica recesiva, con mutación en gen CYBA, quien presentó manifestación inicial de la enfermedad con abscesos cerebrales ocasionados por un germen oportunista (Dermacoccus nishinomiyaensis). Esta infección permitió la sospecha diagnóstica temprana, por lo que recibió el tratamiento y la profilaxis en forma oportuna. Actualmente, se encuentra libre de infecciones, a la espera del trasplante de células progenitoras hematopoyéticas.

Chronic granulomatous disease is a rare primary immunodeficiency characterized by defects in one of the subunits of the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex, which causes a deficiency in the capacity of phagocytes to generate superoxide anion. Within this group, the X-linked form is the most frequent. Here we report the case of a 2-year-old female patient with autosomal recessive chronic granulomatous disease, with a mutation in the CYBA gene, whose initial manifestation was brain abscesses caused by an opportunistic microorganism (Dermacoccus nishinomiyaensis). The infection led to an early diagnostic suspicion, so treatment and prophylaxis were administered in a timely manner. Currently, she is infectionfree, awaiting hematopoietic progenitor cell transplantation.

Sarcoidosis cutánea. Presentación de un caso

La sarcoidosis es una enfermedad granulomatosa sistémica de causa desconocida, con mayor prevalencia en el sexo femenino, entre los 20 a 40 años de edad; caracterizada por la formación de granulomas no caseificantes en distintos órganos. La afectación cutánea de forma exclusiva es rara, pues se describe solo en el 4-5 % de los pacientes, ya que las lesiones en piel pueden aparecer antes o después del compromiso sistémico, o bien coincidir con este. Se presenta el caso de una paciente de 35 años con lesiones en piel de cuatro años de evolución. Considerando el cuadro clínico y la histopatología, se concluyó con el diagnóstico de sarcoidosis cutánea, crónica y asintomática. Se trata de una enfermedad muy polimorfa en sus manifestaciones cutáneas, lo cual la convierte en una gran simuladora, y su diagnóstico constituye un reto para el dermatólogo.

Sarcoidosis is a systemic granulomatous disease of unknown cause, with a higher prevalence in females, between 20 and 40 years of age; characterized by the formation of non-caseating granulomas in different organs. Exclusive skin involvement is rare, as it is described in only 4-5% of patients, since skin lesions may appear before or after systemic involvement, or coincide with it. The case of a 35-years-old patient with skin lesions of four years of evolution is presented. Considering the clinical case and histopathology, the diagnosis of chronic and asymptomatic cutaneous sarcoidosis was concluded. It is a very polymorphic disease in its skin manifestations, which makes it a great simulator, and its diagnosis constitutes a challenge for the dermatologist.

Características imagenológicas actuales de resonancia magnética en los granulomas cerebrales más frecuentes / Current magnetic resonance imaging characteristics of the most frequent granulomas of the brain

RESUMEN Los granulomas infecciosos y no infecciosos del encéfalo constituyen un constante desafío en su diagnóstico, dado que, desde el punto de vista clínico, muestran síntomas y signos, exámenes auxiliares e imágenes de características muy similares, razón por la cual demoran el tratamiento y demandan un diagnóstico histopatológico certero. Solo en estos últimos tiempos, con avances de la experiencia clínica, la epidemiología y las nuevas técnicas de resonancia magnética, se vislumbra la posibilidad de un diagnóstico no invasivo. Las formas infecciosas se encuentran en su mayoría en regiones de América Latina, Asia y África, aun cuando, debido a las migraciones y la globalización, también se están presentando de manera creciente en el resto del mundo. El presente trabajo describe las entidades que producen los granulomas más frecuentes y el apoyo diagnóstico que actualmente dispensan las imágenes de resonancia magnética.

ABSTRACT Infectious and non-infectious brain granulomas are a constant diagnostic challenge as, from the clinical point of view, present symptoms and signs, auxiliary tests, and images of very similar characteristics, delaying treatment and demanding an accurate histopathological diagnosis. Only recently, based on clinical experience, epidemiology, and new magnetic resonance techniques, the possibility of a non-invasive diagnosis is most likely. The infectious variants are more frequently found in regions of Latin America, Asia, and Africa, even though, due to migrations and globalization, they are also increasingly appearing in the rest of the world. The present work describes the entities that produce granulomas more frequently, and the diagnostic support currently provided by magnetic resonance images.

Rosácea Granulomatosa: una variante infrecuente en la infancia / Granulomatous Rosacea: A variant infrequent in childhood

RESUMEN La rosácea es una dermatosis inflamatoria crónica de la piel, caracterizada por la presencia de eritema, telangiectasias, pápulas y pústulas en la región centro facial. Dentro de sus variantes, la forma granulomatosa es un cuadro clínico comunicado con escasa frecuencia en la infancia. Se presenta una paciente de sexo femenino, de 9 años de edad, quien presenta enrojecimiento facial y lesiones quísticas de tamañosvariables. Se decide realizar biopsia cutánea profunda, en la que se observó en lámina histológica, con técnica de H-E, al 40X: infiltrado inflamatorio severo perivascular superficial y profundo, a predominio linfo-plasmocitario, leucocitos polimorfonucleares e histiocitos, formando granulomas. Se instaura tratamiento tópico y sistémico, con resolución satisfactoria del cuadro clínico, con lo que mejora su calidad de vida.

ABSTRACT Rosacea is a chronic inflammatory dermatosis of the skin, characterized by the presence of erythema, telangiectasias, papules and pustules in the central facial region. Among its variants, the granulomatous form is a clinical picture rarely reported in childhood. A 9-year-old female patient is presented, who presents facial redness and cystic lesions of variable sizes, it was decided to perform a deep skin biopsy where it was observed in histological plate, with the H-E technique, at 40X; Superficial and deep perivascular severe inflammatory infiltrate, predominantly lymphoplasmacytic, polymorphonuclear leukocytes, and histiocytes, forming granulomas. Topical and systemic treatment was established with satisfactory resolution of the clinical picture, improving their quality of life.

Granulomatous rhinitis by Neoconidiobolus lamprauges in a mule / Rinite granulomatosa por Neoconidiobolus lamprauges em uma mula

Conidiobolomycosis has a wide distribution, predominantly in humid tropical regions, affecting several species with significant mortality rates. The genus Conidiobolus is now divided into four genera: Capillidium, Conidiobolus, Microconidiobolus, and Neoconidiobolus. There are no confirmed reports of infection by these fungi in Equidae in Brazil. We present a rhinofacial rhinitis caused by Neoconidiobolus lamprauges in a mule from Rio de Janeiro, Brazil. The mule presented bilateral semi-occlusion of the nostrils, difficulty breathing, and weight loss. The histological examination of the nostril biopsied mass revealed multifocal necrotizing areas with nonstained images of fungal hyphae in the Splendore-Hoeppli reaction and surrounded by macrophages, eosinophils, neutrophils, and multinucleated giant cells. The Grocott methenamine silver staining revealed thin-walled, rarely septated, irregular branching hyphae, with a varying diameter of 12 µm (± 3.63 µm), and terminal ballooning dilations. The determining etiology of this rhinitis was based on the hyphae staining by immunohistochemistry and by amplifying the DNA fragment of N. lamprauges by polymerase chain reaction. Conidiobolomycosis should be included in the differential diagnosis of the causes of rhinitis in equids, mainly in tropical regions.

A conidiobolomicose apresenta ampla distribuição geográfica, com predominância em regiões tropicais úmidas, afeta várias espécies e apresenta taxa de mortalidade significativa. O gênero Conidiobolus está agora dividido em quatro gêneros: Capillidium, Conidiobolus, Microconidiobolus e Neoconidiobolus. Não há relatos confirmados de infecção por esses fungos em equídeos no Brasil. Relata-se o caso de uma mula com rinite rinofacial causada por Neoconidiobolus lamprauges no Rio de Janeiro, Brasil. A mula apresentava uma massa que semiocluía as narinas bilateralmente, dificuldade respiratória e emagrecimento. O exame histológico de biópsia da massa da narina revelou áreas de necrose multifocais com imagens negativas de hifas fúngicas em meio à reação de Splendore-Hoeppli, circundadas por macrófagos, eosinófilos, neutrófilos e células gigantes multinucleadas. O exame histoquímico metenamina prata de Grocott revelou hifas de parede fina, raramente septadas, com ramificação irregular, grau variável de paralelismo, e diâmetro médio de 12 µm (± 3,63) e dilatações balonosas terminais. O diagnóstico etiológico foi realizado pela associação da imuno-histoquímica e da amplificação do fragmento de DNA de N. lamprauges pela reação em cadeia da polimerase. A conidiobolomicose deve ser incluída no diagnóstico diferencial das causas de rinite em equídeos, principalmente em regiões tropicais.

Subacute thyroiditis and rapidly developing goiter in a 16-year-old female: a case report / Tiroiditis Sub-aguda asociada a bocio nodular en una paciente de 16 años; reporte de un caso

Subacute thyroiditis (SAT) is an inflammatory disease of the thyroid gland with multiple etiologies and clinical features, often challenging to recognize. The classic presentation is the painful, granulomatous thyroiditis (DeQuervain's) characterized by diffuse swelling of the gland, usually preceded by an upper respiratory tract infection. A painless variant, also referred to as autoimmune subacute thyroiditis, has been documented and is strongly linked to postpartum state, reported following ~10% of pregnancies. It can be differentiated from the former by the presence of anti-thyroid antibodies, which classifies it as an autoimmune thyroiditis. Any spontaneous development of painful swelling of the thyroid gland warrants a complete work up that includes thyroid hormones, thyroid autoimmune panel, acute phase reactant titers, and, if available, imaging that may lead to the diagnosis of an inflammatory or infectious cause of thyroiditis.

Tiroiditis Subaguda, es una enfermedad inflamatoria de la glándula Tiroides que tiene muchas etiologías y características clínicas, y frecuentemente difícil de reconocer. La presentación clásica es: tiroiditis granu-lomatosa dolorosa caracterizada de hinchazón difusa de la glándula del Tiroides, usualmente precedida de una infección respiratoria de las vías áreas superior (como una infección viral). Existe una variante sin dolor, tam-bién referida como tiroiditis subaguda autoinmune, ha sido documentado y es muy ligada al estado postparto, en un 10% de los embarazos. La Tiroiditis postparto Puede ser diferenciada de la anterior por la presencia de anticuerpos lo que la clasifica como una tiroiditis auto-inmune. Cualquier desarrollo espontaneo de una hin-chazón dolorosa de la tiroides garantiza su evaluación de una manera formal, que incluye las hormonas del tiroides, panel tiroideo de autoinmunidad títulos de los factores que reaccionan agudamente, y si está disponible imágenes como una ultrasonografía que conlleva al di-agnóstico de una Tiroiditis inflamatoria o de origen in-feccioso.

Granulomatous rhinitis by Neoconidiobolus lamprauges in a mule / Rinite granulomatosa por Neoconidiobolus lamprauges em uma mula

ABSTRACT: Conidiobolomycosis has a wide distribution, predominantly in humid tropical regions, affecting several species with significant mortality rates. The genus Conidiobolus is now divided into four genera: Capillidium, Conidiobolus, Microconidiobolus, and Neoconidiobolus. There are no confirmed reports of infection by these fungi in Equidae in Brazil. We present a rhinofacial rhinitis caused by Neoconidiobolus lamprauges in a mule from Rio de Janeiro, Brazil. The mule presented bilateral semi-occlusion of the nostrils, difficulty breathing, and weight loss. The histological examination of the nostril biopsied mass revealed multifocal necrotizing areas with nonstained images of fungal hyphae in the Splendore-Hoeppli reaction and surrounded by macrophages, eosinophils, neutrophils, and multinucleated giant cells. The Grocott methenamine silver staining revealed thin-walled, rarely septated, irregular branching hyphae, with a varying diameter of 12 μm (± 3.63 μm), and terminal ballooning dilations. The determining etiology of this rhinitis was based on the hyphae staining by immunohistochemistry and by amplifying the DNA fragment of N. lamprauges by polymerase chain reaction. Conidiobolomycosis should be included in the differential diagnosis of the causes of rhinitis in equids, mainly in tropical regions.

RESUMO: A conidiobolomicose apresenta ampla distribuição geográfica, com predominância em regiões tropicais úmidas, afeta várias espécies e apresenta taxa de mortalidade significativa. O gênero Conidiobolus está agora dividido em quatro gêneros: Capillidium, Conidiobolus, Microconidiobolus e Neoconidiobolus. Não há relatos confirmados de infecção por esses fungos em equídeos no Brasil. Relata-se o caso de uma mula com rinite rinofacial causada por Neoconidiobolus lamprauges no Rio de Janeiro, Brasil. A mula apresentava uma massa que semiocluía as narinas bilateralmente, dificuldade respiratória e emagrecimento. O exame histológico de biópsia da massa da narina revelou áreas de necrose multifocais com imagens negativas de hifas fúngicas em meio à reação de Splendore-Hoeppli, circundadas por macrófagos, eosinófilos, neutrófilos e células gigantes multinucleadas. O exame histoquímico metenamina prata de Grocott revelou hifas de parede fina, raramente septadas, com ramificação irregular, grau variável de paralelismo, e diâmetro médio de 12 μm (± 3,63) e dilatações balonosas terminais. O diagnóstico etiológico foi realizado pela associação da imuno-histoquímica e da amplificação do fragmento de DNA de N. lamprauges pela reação em cadeia da polimerase. A conidiobolomicose deve ser incluída no diagnóstico diferencial das causas de rinite em equídeos, principalmente em regiões tropicais.

Presentación clínica y hallazgos radiográficos de pacientes con diagnóstico histopatológico de mastitis granulomatosa idiopática / Clinical presentation and radiological findings of patients with histopathological diagnosis of idiopathic granulomatous mastitis

INTRODUCCIÓN. La mastitis granulomatosa idiopática es una patología inflamatoria benigna de mama con clínica y hallazgos imagenológicos no específicos; usualmente confundida con cáncer de mama. El síntoma más frecuente es una masa mamaria palpable. El diagnóstico es histopatológico. OBJETIVO. Describir el perfil demográfico, presentación clínica y hallazgos radiográficos de pacientes con diagnóstico histopatológico de mastitis granulomatosa idiopática. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo, retrospectivo. Población de 1130 y muestra de 49 datos de historias clínicas electrónicas de pacientes con diagnóstico histológico de mastitis granulomatosa idiopática con el código CIE10 N61x Trastornos Inflamatorios de la mama, atendidas en la Unidad Técnica de Imagenología del Hospital de Especialidades Carlos Andrade Marín en la ciudad de Quito entre enero 2019 hasta diciembre 2021. El criterio de inclusión fue la confirmación histopatológica de mastitis granulomatosa idiopática. Los criterios de exclusión: antecedentes de neoplasia maligna de mama, antecedentes de HIV, patología inflamatoria sistémica como granulomatosis de Wegener, sarcoidosis, infecciones granulomatosas crónicas como tuberculosis, brucelosis, histoplasmosis, sífilis y reacciones a cuerpos extraños como material de implantes mamarios. Se analizaron datos demográficos, presentación clínica, hallazgos mamográficos, ecográficos y la categorización BIRADS. Se efectuó un análisis univarial; para las variables cualitativas se realizó frecuencias y porcentajes; para las variables cuantitativas se realizó medidas de tendencia central. La información recolectada fue analizada en el programa estadístico International Business Machines Statistical Package for the Social Sciences. RESULTADOS La mediana de la edad fue 36 años. El 94,00% de pacientes tenían por lo menos un hijo; 77,50% presentaron con una masa palpable; 55,10% se acompañaron de signos inflamatorios; 16,00% asociaron fístulas y 24,40% presentaron secreción. Solo 1 caso presentó afectación bilateral. CONCLUSIÓN En este estudio, la mastitis granulomatosa idiopática afecta a mujeres en edad reproductiva sin antecedentes de malignidad quienes presentan una masa mamaria palpable que puede estar acompañada de signos inflamatorios, colecciones y fístulas. La realización de una biopsia core eco guiada, para confirmar su diagnóstico.

INTRODUCTION. Idiopathic granulomatous mastitis is a benign inflammatory breast pathology with nonspecific clinical and imaging findings; usually mistaken for breast cancer. The most frequent symptom is a palpable breast mass. The diagnosis is histopathologic. OBJECTIVE. To describe the demographic profile, clinical presentation and radiographic findings of patients with histopathologic diagnosis of idiopathic granulomatous mastitis. MATERIALS AND METHODS. Observational, descriptive, retrospective study. Population of 1130 and sample of 49 data from electronic medical records of patients with histological diagnosis of idiopathic granulomatous mastitis with ICD10 code N61x Inflammatory disorders of the breast, attended at the Technical Imaging Unit of the Carlos Andrade Marín Specialties Hospital in the city of Quito between January 2019 and December 2021. The inclusion criterion was histopathological confirmation of idiopathic granulomatous mastitis. Exclusion criteria: history of malignant breast neoplasia, history of HIV, systemic inflammatory pathology such as Wegener's granulomatosis, sarcoidosis, chronic granulomatous infections such as tuberculosis, brucellosis, histoplasmosis, syphilis and reactions to foreign bodies such as breast implant material. Demographic data, clinical presentation, mammographic and ultrasound findings and BIRADS categorization were analyzed. Univariate analysis was performed; frequencies and percentages were used for qualitative variables; measures of central tendency were used for quantitative variables. RESULTS. The median age was 36 years. 94,00% of patients had at least one child; 77,50% presented with a palpable mass; 55,10% were accompanied by inflammatory signs; 16,00% were associated with fistulas and 24,40% presented with discharge. Only 1 case presented bilateral involvement. CONCLUSION. In this study, idiopathic granulomatous mastitis affects women of reproductive age with no history of malignancy who present with a palpable breast mass that may be accompanied by inflammatory signs, collections and fistulas. The performance of an echo-guided core biopsy to confirm the diagnosis.

Epidemiological characterization of patients with sarcoidosis in a high complexity hospital in southwestern Colombia

Introduction: Epidemiological studies on sarcoidosis in Colombia are scarce, and although recent reports from the north of the country have been published, clinical-epidemiological associations are not clear. Our aim was to characterize patients with sarcoidosis diagnosed at Fundación Valle del Lili in Cali, Colombia. Methods: A retrospective study of a series of sarcoidosis cases was conducted between 2011 and 2019. Demographic, clinical, laboratory, imaging, histopathological, and treatment variables were analyzed. Results: A total of 34 patients with a diagnosis of sarcoidosis were found. The majority were women (n = 25; 73%), and the mean age was 50 years. The main symptoms of onset were erythema nodosum (n = 11; 33%), arthritis (n = 10; 30%), and cough (n = 9; 27%). In 64% of the cases, there was pulmonary involvement, with pulmonary nodules, mediastinal adenopathy, and interstitial lung disease found in 54%, 50%, and 36% of cases, respectively. In 85% of cases, there were extrapulmonary manifestations, mainly cutaneous (50%). Angiotensin-converting enzyme (ACE) was elevated in 62% of the cases in which it was measured (n = 16; 47%). During the diagnostic process, 23 biopsies were performed, of which 95% showed granulomas with noncaseating necrosis. Most of the patients (76%) were controlled with prednisolone, at an average dose of 20 mg (7.5-50 mg) per day. Conclusions: Sarcoidosis was more frequent in women and mestizos, and it presented earlier in men. Elevated ACE was not associated with extrapulmonary involvement. Calcium-phosphorus profile and antinuclear antibodies were not useful to establish the diagnosis.

Introducción: En Colombia son escasos los estudios epidemiológicos sobre la sarcoidosis; aunque recientemente se han publicado reportes del norte del país, son grupos muestrales pequeños, por lo que no quedan claras las asociaciones clínico-epidemiológicas. Nuestro objetivo fue caracterizar pacientes con sarcoidosis en la Fundación Valle del Lili, en Cali, Colombia. Métodos: Se realizó un estudio retrospectivo de una serie de casos de sarcoidosis entre el 2011 y el 2019. Se analizaron variables demográficas, clínicas, de laboratorio, imagenológicas, histopatológicas y de tratamiento. Resultados: Se encontraron 34 pacientes con diagnóstico de sarcoidosis, la mayoría fueron mujeres (n = 25; 73%), y la edad promedio fue 50 anos. Los principales síntomas de inicio fueron eritema nudoso (n = 11; 33%), artritis (n = 10; 30%) y tos (n = 9; 27%). En el 64% de los casos hubo compromiso pulmonar, y se encontraron nódulos pulmonares, adenopatías mediastinales y enfermedad pulmonar intersticial en un 54, 50 y 36% de los casos, respectivamente. En el 85% de los casos hubo manifestaciones extrapulmonares, principalmente cutáneas (50%). Los niveles de enzima conversora de angiotensina estuvieron elevados en el 62% de los casos en los que fue medida (n = 16; 47%). Durante el proceso diagnóstico se realizaron 23 biopsias, de las cuales el 95% evidenció granulomas con necrosis no caseificante. La mayoría de los pacientes (76%) fueron controlados con prednisolona, a una dosis promedio de 20 mg (7,5-50 mg) por día. Conclusiones: La sarcoidosis fue más frecuente en mujeres y mestizos. La presentación fue más temprana en hombres. La enzima conversora de angiotensina no se relacionó con compromiso extrapulmonar. Ni el perfil fósforo-calcio ni los anticuerpos antinucleares fueron útiles para establecer el diagnóstico.

Tuberculose intratorácica na forma pseudotumoral e óssea como manifestação de doença granulomatosa crônica / Intrathoracic tuberculosis in the pseudotumoral and bone form as a manifestation of chronic granulomatous disease

A doença granulomatosa crônica (DGC) é um erro inato da imunidade de fagócitos, e ocorre em decorrência de mutações que afetam componentes da enzima NADPH oxidase. Os pacientes são suceptíveis a infecções graves e letais por fungos e bactérias. O objetivo deste trabalho é relatar o caso de um lactente com DGC que apresentou manifestação clínica de tuberculose (TB) intratorácica na forma pseudotumoral e óssea iniciada no período neonatal. O diagnóstico de DGC foi realizado através do teste de DHR e, após o início da profilaxia com sulfametoxazoltrimetroprima e itraconazol, o paciente manteve-se estável clinicamente. A mãe e a irmã também apresentaram DHR alterados, a análise genética revelou uma mutação ligada ao X no exon 2 do gene CYBB c.58G>A, levando uma alteração em G20R. É fundamental que o diagnóstico seja realizado o mais precocemente possível, a fim de instituir as orientações aos familiares e tratamento adequado, reduzindo assim complicações infecciosas e melhorando prognóstico.

Chronic granulomatous disease (CGD) is an inborn error of phagocyte immunity and occurs as a resulto f mutations that affect components of the NADPH oxidase enzyme. Patients are susceptible to serious and lethal fungal and bacterial infections. The aim of this paper is to report a case an infant with CGD who presented clinical manifestations of intrathoracic tuberculosis (TB) in the pseudotumoral and bone form, which started in the neonatal period. The diagnosis of CGD was performed using the DHR test and, after starting prophylaxis with sulfamethoxazole-trimethoprim and itraconazole, the patient remained clinically stable. The mother and sister also had altered DHR, genetic analysis revealed an X-linked mutation in exon 2 of the CYBB gene c.58G>A, leading to an alteration in G20R. It is essential that the diagnosis is made as early as possible, in order to establish guidelines for Family members and adequate treatment, thus reducing infectious complications and improving prognosis.

Canine gastrointestinal pythiosis: a case report in Brazilian Pantanal from a diagnostic approach / Pitiose gastrointestinal canina: relato de caso no Pantanal brasileiro a partir de uma abordagem diagnóstica

Pythiosis is caused by an aquatic fungus-like organism (Pythium insidiosum). It is considered an important public health issue as it can affect both animals and humans. This paper reports a case of gastrointestinal pythiosis in a dog. The patient was hospitalized for four days, during which the animal received supportive and symptomatic treatment. But the applied treatment was unsuccessful and the dog's clinical condition worsened, culminating in death. Complementary imaging tests such as radiography and ultrasonography, as well as hematological tests, were performed during the hospitalization period. The definitive diagnosis was reached in the postmortem as macroscopic and microscopic characteristics suggested the presence of intestinal granuloma and accentuated multifocal suppurative necrotic enteritis. Additionally, the histological evaluation revealed morphological structures compatible with P. insidiosum. Also, the results of nested PCR performed showed partial amplification (105 bp) of the ITS1 region of the ribosomal gene of P. insidiosum.(AU)

A pitiose é causada por um organismo aquático semelhante a um fungo (Pythium insidiosum) e considerada um importante problema de saúde pública, pois pode afetar animais e humanos. Este artigo relata um caso de pitiose gastrointestinal em um cão. O paciente ficou internado por quatro dias, período em que o animal recebeu tratamento de suporte e sintomático. No entanto, o tratamento aplicado não teve sucesso e o quadro clínico do cão piorou, culminando com a morte. Exames de imagem complementares, como radiografia e ultrassonografia, bem como exames hematológicos, foram realizados durante o período de internação. O diagnóstico definitivo foi feito na autópsia, pois as características macroscópicas e microscópicas sugeriam a presença de granuloma intestinal e acentuada enterite necrótica multifocal supurativa. Além disso, a avaliação histológica revelou estruturas morfológicas compatíveis com P. insidiosum. Além disso, a nested PCR foi realizada e mostrou amplificação parcial (105 pb) da região ITS1 do gene ribossomal de P. insidiosum.(AU)

Conidiobolomicose em ovinos no Estado do Acre, Brasil / Conidiobolomycosis in sheep in the state of Acre, Brazil

A criação de ovinos tem expandido no mercado de carne e subprodutos no Brasil. A conidiobolomicose é uma zigomicose considerada uma doença emergente, que acomete humanos e animais. Por ser uma doença com letalidade alta e pela gravidade das lesões, ela causa perdas econômicas relevantes na ovinocultura. Este trabalho tem como objetivo descrever os aspectos epidemiológicos, clínicos, histopatológicos e microbiológicos da conidiobolomicose em um rebanho de ovinos no município de Porto Acre (AC). Descreve-se um surto de conidiobolomicose que ocorreu entre os meses de abril e julho de 2014. A propriedade possuía 60 ovinos da raça Santa Inês e cinco desses animais adoeceram. Clinicamente os animais doentes apresentavam dificuldade respiratória, corrimento nasal seroso a mucossanguinolento e, por vezes exoftalmia. Foram retirados fragmentos da lesão circunscrita do pulmão esquerdo dos ovinos necropsiados os quais foram submetidos à análise microbiológica e histopatológica. O fungo isolado apresentou caracterização macro e micromorfológica identificados como Conidiobolus lamprauges. Pelos sinais clínicos, achados epidemiológicos, análise histopatológica e, principalmente, pelo isolamento do agente, a enfermidade dos ovinos neste estudo foi identificada como conidiobolomicose causada por Conidiobolus lamprauges.(AU)

Sheep farming has expanded in the meat and by-products market in Brazil. Conidiobolomycosis is a zygomycosis considered an emerging disease, which affects humans and animals. Because it is a disease with high lethality and the severity of injuries, it causes significant economic losses in sheep farming. This work aims to describe the epidemiological, clinical, histopathological and microbiological aspects of conidiobolomycosis in a flock of sheep in Porto Acre city (Acre state of North Brazil). An outbreak of conidiobolomycosis occurred between April and July 2014. The property had 60 Santa Inês sheep and five of these animals became ill. Clinically, the sick animals had breathing difficulties, a serous to mucous-bloody runny nose and, at times, exophthalmos. Fragments of the circumscribed lesion of the left lung were removed from the necropsied sheep and submitted to microbiological and histopathological analysis. The isolated fungus showed macro and micromorphological characterization identified as Conidiobolus lamprauges. Due to clinical signs, epidemiological findings, histopathological analysis and, mainly, the isolation of the agent, the disease of the sheep in this study was identified as conidiobolomycosis caused by Conidiobolus lamprauges.(AU)

Mastitis granulomatosa: una simuladora de cáncer, un gran reto diagnóstico y terapéutico / Granulomatous mastitis: a cancer simulator, a great diagnostic and therapeutic challenge

Resumen ANTECEDENTES: La mastitis granulomatosa idiopática es un padecimiento benigno de la glándula mamaria sumamente raro, simulador de cáncer de mama. Las manifestaciones clínicas más significativas son: nódulo palpable, cambios en la coloración de la piel y mastalgia. Para integrar su diagnóstico se requiere el apoyo de estudios auxiliares de imagen, sin que por ello deje de ser imprescindible la toma de biopsia para establecer el diagnóstico definitivo. No existen pautas de tratamiento debidamente establecidas, pero sí de tratamiento farmacológico y quirúrgico, ésta última se reserva para casos de recidivas, que son frecuentes. CASO CLÍNICO: Paciente de 35 años, nuligesta; acudió a consulta debido a la aparición de un tumor palpable en la glándula mamaria derecha, de siete meses de evolución, con cambios en la coloración y retracción del pezón. La mastografía y ecografía catalogaron el tumor en BI-RADS 5. La biopsia con aguja de corte y citología integraron el diagnóstico de mastitis granulomatosa idiopática. Se indicó tratamiento farmacológico y el tumor desapareció espontáneamente. CONCLUSIONES: La mastitis granulomatosa es una enfermedad rara y de diagnóstico complejo. Para cada paciente habrá un protocolo diferente para evitar el sobretratamiento. Su pronóstico es bueno, a pesar de ser un simulador de cáncer de mama. El tratamiento aún es ambiguo, pero en primera instancia se recomiendan los corticosteroides o inmunosupresores y la cirugía se reserva para casos de recidivas.

Abstract BACKGROUND: Idiopathic granulomatous mastitis is an extremely rare benign entity of the mammary gland, simulating breast cancer. The most significant clinical manifestations are: palpable nodule, skin discoloration changes and mastalgia. The diagnosis requires the support of auxiliary imaging studies, although a biopsy is essential to establish the definitive diagnosis. There are no well-established treatment guidelines, but there are guidelines for pharmacological and surgical treatment, the latter is reserved for cases of recurrence, which are frequent. CLINICAL CASE: A 35-year-old nulligesta patient came for consultation due to the appearance of a palpable tumor in the right mammary gland, of 7 months of evolution, with changes in color and nipple retraction. The mastography and ultrasound catalogued the tumor in BI-RADS 5. The biopsy with cutting needle and cytology integrated the diagnosis of idiopathic granulomatous mastitis. Pharmacological treatment was indicated, and the tumor disappeared spontaneously. CONCLUSIONS: Granulomatous mastitis is a rare disease with a complex diagnosis. For each patient there will be a different protocol to avoid overtreatment. Its prognosis is good, despite being a breast cancer simulator. Treatment is still ambiguous but, in the first instance, corticosteroids or immunosuppressants are recommended and surgical treatment is reserved for cases of recurrence.

Palisaded neutrophilic granulomatous dermatitis as the initial presentation of systemic lupus erythematosus. / Dermatitis granulomatosa neutrofílica en empalizada como presentación inicial de lupus eritematoso sistémico.

BACKGROUND: Palisaded neutrophilic granulomatous dermatitis is a rare cutaneous manifestation in children associated with autoimmune pathologies. The exact pathogenesis of this disease is still unknown. However, it has been suggested that the deposition of immune complexes could initiate this pathology. CASE REPORT: We describe the case of an 11-year-old female patient who presented with polymorphic lesions in extremities associated with polyarthralgia. She was diagnosed with systemic lupus erythematosus and lupus nephritis. Because of the skin lesions, histopathological and immunohistochemical skin studies (CD68, CD163, myeloperoxidase) were performed, which resulted in palisaded neutrophilic granulomatous dermatitis. Due to renal involvement, treatment was administered with methylprednisolone pulses, hydroxychloroquine, mycophenolate mofetil, antihypertensives, and nonsteroidal anti-inflammatory drugs. The clinical response was favorable during follow-up. CONCLUSIONS: Palisaded neutrophilic granulomatous dermatitis associated with systemic lupus erythematosus is unusual. Therefore, its recognition is important, as it may appear as the initial manifestation of this autoimmune disease.

INTRODUCCIÓN: La dermatitis granulomatosa neutrofílica en empalizada es una manifestación cutánea poco frecuente en la infancia que se asocia con patologías autoinmunitarias. La patogénesis exacta de esta enfermedad aún se desconoce. Sin embargo, se ha sugerido que el depósito de complejos inmunitarios podría iniciarla. CASO CLÍNICO: Se describe el caso de una paciente de 11 años que presentó lesiones polimórficas en las extremidades asociadas a poliartralgias. Fue diagnosticada de lupus eritematoso sistémico y nefritis lúpica. Por las lesiones en la piel, se realizaron estudios histopatológico e inmunohistoquímico (CD68, CD163, mieloperoxidasa), que dieron como resultado dermatitis granulomatosa neutrofílica en empalizada. Debido al compromiso renal, se administró tratamiento con pulsos de metilprednisolona, además de hidroxicloroquina, micofenolato de mofetilo, antihipertensivos y antiinflamatorios no esteroideos. La respuesta clínica fue favorable durante el seguimiento. CONCLUSIONES: La dermatitis granulomatosa neutrofílica en empalizada asociada a lupus eritematoso sistémico es inusual. Por ello, es importante su reconocimiento, ya que puede presentarse como manifestación inicial de la enfermedad autoinmunitaria.

Mastitis granulomatosa idiopática. Características clínicas, imagenológicas, patológicas y su correlación con la respuesta al tratamiento - Hospital Dr. Cosme Argerich / Idiopathic granulomatous mastitis: clinical, imagenological, pathological characteristics and their correlation with treatment response

Introducción: La mastitis granulomatosa idiopática (MGI) es una patología inflamatoria benigna que se presenta típicamente como tumoración dolorosa. Recientemente, un subconjunto con patrón histológico neutrofilico quístico (MGNQ) fue asociado al corynebacterium. Objetivo: Revisión bibliográfica y evaluación de nuestra casuística. Material y método: Se seleccionaron 24 mujeres con MGI diagnosticada entre 2000-2019. Variables analizadas: demográficas, antecedentes, clínica, imágenes, cultivos, patología, tratamientos y evolución. Resultados: Edad media: 40.7 años. 50% tuvo ≥4 gestas y 91.6% lactó. Presentación clínica: Tumor abscedado palpable 58.33%, Palpable asintomático 25%, Palpable doloroso 12.5%. Lesión no palpable 4.17%. Tamaño promedio de lesión: 3.5 cm. Imágenes BIRADS 4/5: 87.5% Cultivo de corynebacterium 25%. Patología: Polimorfonucleares intraductales (PMNID) 62.5%, Vacuolas quísticas 50% (2 casos con baci- los). Tratamiento: Antibióticoterapia 79.1%, Inmunosupresión 79.1%, Drenaje de abscesos 45.8%. Tumorectomía 41.6%. Tiempo de resolución: 5.5 meses Tiempo libre de enfermedad: 33.6 meses. Recurrencias: 31.%. Conclusiones: Debe sospecharse en toda mujer joven con tumor mamario asociado a abscesos, fistulas y/o úlceras. El diagnóstico de MGNQ y PM- NID tienen asociación estadísticamente significativa con recurrencia. Es esencial el abordaje multidisciplinario y el tratamiento multimodal

Introduction: Idiopathic granulomatous mastitis (IGM) is a benign inflammatory disease that typically presents as a painful mass. Recently, a subset with cystic neutrophilic histological pattern (CNGM) was related to corynebacterium. Objetive: Bibliographic review and evaluation of our casuistry. Material and method: During 2000-2019, 24 women diagnosed with IGM were selected. Variables analyzed: Demographic, background, clinical, images, cultures, pathology, treatment and evolution. Results: Average age: 40.7 years. 50% had ≥ 4 gestations and 91.6% lactated. Clinical presentation: Palpable abscessed tumor 58.33%, Palpable asymptomatic 25%, Palpable painful 12.5%. Non palpable lesion 4.17%. Average lesion size: 3.5 cm. BIRADS images 4/5: 87.5% Corynebacterium culture 25%. Findings: Intraductal polymorphonuclear cells (IDPMNC) (62.5% ), Cystic vacuoles (50%) (With bacilli in 2 cases). Treatment: Antibiotic therapy 79.1%, Immunosuppression 79.1%, Drainage of abscesses 45.8%. Lumpectomy 41.6%. Resolution time: 5.5 months Diseasefree time: 33.6 months. Recurrences: 31.8%. Conclusions: It should be suspected in any young woman with a breast tumor associated with abscesses, fistulas and/or ulcers. The diagnosis of CNGM and IDPMNC has statistically significant association with recurrence. A multidisciplinary approach and multimodal treatment is essential