Sarcoidosis y cáncer de páncreas. Presentación de un caso / Sarcoidosis and pancreatic cancer. A case presentation

La sarcoidosis es una enfermedad granulomatosa de causa desconocida, sin embargo existen reacciones similares a lasarcoidosis, o reacciones sarcoideas, que pueden estar relacionadas tanto con procesos oncológicos como con sus trata-mientos, siendo infrecuente su asociación en los casos de carcinoma de páncreas, por lo que es fundamental tener encuenta esta entidad y realizar confirmación citohistológica antes de considerar la afectación mediastínica como progresióntumoral metastásica, para lo cual es de gran utilidad la ecobroncoscopia, como una técnica mínimamente invasiva y conalta rentabilidad en el diagnóstico diferencial de estas entidades. Describimos el caso de una paciente con adenocarcino-ma pancreático que desarrolló una reacción sarcoidea durante la evolución de su enfermedad.(AU)

Sarcoidosis is a granulomatous disease of unknown cause, however, there are reactions similar to sarcoidosis or sarcoidreactions, which may be related to both oncological processes and their treatments, their association being infrequent incases of pancreatic carcinoma, therefore that it is essential take into account and perform cytohistological confirmation be-fore considering mediastinal involvement as metastatic tumour progression, for which ultrasound bronchoscopy is veryuseful as a minimally invasive technique with high profitability in the differential diagnosis of these entities. We describe thecase of a patient with pancreatic adenocarcinoma who developed a sarcoid reaction during the course of disease.(AU)

Multi-organ Involvement in Non-pulmonary Sarcoidosis / Afectación multiorgánica en sarcoidosis no pulmonar

Isolated extrapulmonary involvement in sarcoidosis is uncommon and reported in 5–9% of systemic sarcoidosis, this constitutes a clinical challenge due to its extensive differential diagnosis. Extrapulmonary sarcoidosis affecting more than three organs is rarely reported and there are scarce literature data published on diagnosis, clinical course and management in those cases.We hereby discuss a case of a 41-year-old female with systemic non-pulmonary sarcoidosis affecting lacrimal gland, peripheral lymph nodes, parotid gland and the liver.(AU)

La afectación extrapulmonar aislada en la sarcoidosis es infrecuente y se reporta en el 5 al 9% de las sarcoidosis sistémicas, lo que constituye un desafío clínico debido a su extenso diagnóstico diferencial. La sarcoidosis extrapulmonar que afecta a más de tres órganos es raramente reportada y hay pocos datos publicados sobre el diagnóstico, la evolución clínica y el manejo de estos casos. Presentamos el caso de una mujer de 41 años con sarcoidosis sistémica no pulmonar que afecta a la glándula lacrimal, los ganglios linfáticos periféricos, la glándula parótida y el hígado.(AU)

Microbiological profile in chronic granulomatous disease patients in a single Brazilian primary immunodeficiencies center

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of the lungs, skin, lymph nodes, and liver are the hallmark of CGD with frequent initial manifestations of the disease. The aim of the present study was to describe the sites of infections and their causative agents in 38 CGD pediatric patients. Methods: This was a retrospective single-center cohort study comprising CGD patients, and followed for over last 40 years at the Allergy and Immunology Unit of a tertiary hospital in São Paulo, Brazil. Sites of infections and their causative agents were described. Results: A total of 38 patients were included (36 males and 2 females). Median age at the onset of symptoms was 45 days (7 days–7 years) and that at the time of diagnosis was 23 months (1 month–12 years); 31.6% of the parents reported death of relatives during childhood and 21% (8 cases) had another male family member with CDG. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%). In all, 188 cultures were positive (85.6% for bacteria and 14.4% for fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in 0.9% (only in 1 patient) of cultures. Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents in this cohort. M. tuberculosis should be considered in endemic areas. Detection of infectious agents drives to find adequate treatment and benefits the evolution of patients with CGD (AU)

Microbiological profile in chronic granulomatous disease patients in a single Brazilian primary immunodeficiency center

Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of lung, skin, lymph nodes, and liver are the hallmark of CGD and frequently the initial manifestation of the disease. The aim of the present paper is to describe the sites of infections and their causative agents in 38 pediatric patients with CGD Methods This retrospective, single-center cohort study included CGD patients followed at the allergy and immunology unit of a tertiary hospital in São Paulo, Brazil over the last 40 years. Sites of infections and their causative agents were described. Results Thirty-eight patients were included (36 males). The median age of onset of symptoms was 45 days (ranging from 7 days–7 years), and the median age at diagnosis was 23 months (ranging from 1 month–12 years). In all, 31.6% of the patients reported a family history of child deaths and 21% (eight cases) had another male family member with CGD. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%); 188 cultures were positive (85.6% bacteria; 14.4% fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in one patient (0.9%). Conclusion Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents found in this cohort. M. tuberculosis should be considered in endemic area. Detection of infectious agents drives to the adequate treatment and benefits the evolution of patients with CGD (AU)

B subset cells in patients with chronic granulomatous disease in a Mexican population

Introduction: Chronic granulomatous disease (CGD) is a disorder of phagocyte function, characterized by pyogenic infections and granuloma formation caused by defects in NADPH oxidase complex activity. Although the effect of CGD mainly reflects the phagocytic compartment, B cell responses are also impaired in patients with CGD. Materials and methods: Flow cytometric analysis was performed on peripheral blood samples from 35 CGD patients age-matched with healthy controls (HC). The target cells of our study were the naive (IgD+/CD27-), memory (IgD-/CD27+), and B1a (CD5+) cells. Immunoglobulins (Igs) were also measured. This study was performed in a Latin American cohort. Results: We found significantly higher levels of naive B cells and B1a cells, but lower levels of memory B cells were found in CGD patients compared to HC. There was no significant difference of cell percentages per inheritance type. Discussion: Our findings suggest that the deficiency of NADPH oxidase components can affect the differentiation of naive B cells to memory B cells. Consequently, memory cells will be low, which also influenced the expression of CD27 in memory B cells and as a result, the percentage of naive cells increases. An altered phenotype of B lymphocytes in CGD patients may contribute to the opportunistic infections and autoimmune disorders that are seen in this disease

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Nódulos pulmonares en paciente con inmunodeficiencia variable común / Lung nodules in a patient with common variable immunodeficiency

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Clinical manifestations in carriers of X-linked chronic granulomatous disease in Mexico

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Haploidentical stem cell transplantation in a boy with chronic granulomatous disease

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This causes impaired microbial killing, which leads to severe life-threatening bacterial and fungal infections. Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. Haploidentical HSCT provides a potentially curative treatment option for patients who lack a suitably HLA-matched donor, but only a few cases have been reported in the literature. Herein, we report a boy with X-linked chronic granulomatous disease treated successfully by haploidentical HSCT with post-transplant cyclophosphamide using a treosulfan-based conditioning regimen

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Sarcoidosis de la glándula lagrimal como primera manifestación / Sarcoidosis of the lacrimal gland as a first manifestation

OBJETIVO/MÉTODO: Generalmente la primera manifestación de la sarcoidosis es a nivel pulmonar, por lo que se presenta el caso de una mujer de 40 años de edad, quien presenta como primera expresión de la enfermedad aumento de volumen de la glándula lagrimal y ptosis mecánica del párpado superior izquierdo. RESULTADO/CONCLUSIÓN: Después de realizar diversos estudios inmunológicos con resultados negativos, estudios de imagen, toma de biopsia glandular y de ganglios localizados en mediastino se concluye en el diagnóstico de sarcoidosis sistémica con presentación primaria de la glándula lagrimal y se inicia tratamiento con metotrexate vía oral con respuesta favorable

OBJECTIVE/METHOD: The first manifestation of sarcoidosis is usually at the pulmonary level. The case is described of a 40-year-old female patient, who presented with an increased volume of the lacrimal gland and mechanical ptosis of upper left eyelid as the first expression of this disease. RESULT/CONCLUSION: The diagnosis of systemic sarcoidosis with primary presentation of the lacrimal gland was made after performing several immunological studies with negative results, imaging studies, and taking of glandular and lymph node biopsies. A favourable response was achieved with oral methotrexate treatment

Fracasos de la embolización en el tratamiento del mioma uterino / Embolization failures in the treatment of uterine myoma

La embolización de la arteria uterina ha sido descrita como un método efectivo y seguro en el tratamiento de los miomas sintomáticos. Se presentan 3 casos de pacientes con útero miomatoso sintomático, y su tratamiento mediante esta técnica. En estos 3 casos, las complicaciones postembolización de los miomas hizo necesaria la práctica de una histerectomía. Así mismo se describen otras complicaciones derivadas de la técnica señaladas en la revisión bibliográfica realizada

Uterine artery embolization has been described as an effective and safe treatment for women with symptomatic uterine leiomyomata. We report three cases of women with symptomatic myomatous uterus and their treatment by this approach. In these three cases, hysterectomy was required due to complications following the embolizations. We also describe other complications of this therapeutic approach that came to light in the literature review

¿Tuberculosis, granulomatosis con poliangeítis, o ambos? Caso clínico inusual / Tuberculosis, granulomatosis with polyangiitis, or both? A case report

Introducción: La tuberculosis (TB) es una infección granulomatosa crónica, y la granulomatosis con poliangeítis (GP) es una vasculitis de vaso pequeño, ambas pudiendo comprometer los pulmones. La asociación de estas es rara. Ambas tienen características similares, lo que dificulta el diagnóstico diferencial. Caso clínico: Mujer de 37 años, en tratamiento para TB pulmonar, que presentó proptosis ocular izquierda, edema y eritema de párpado y conjuntiva. La biopsia orbitaria reveló GP. Los anticuerpos anticitoplasma de neutrófilos se encontraban elevados. Se inició tratamiento inmunosupresor, con buena respuesta. Conclusión: La TB y la GP pueden asociarse. El diagnóstico debe incluir anticuerpos anticitoplasma de neutrófilos y también biopsia, para seleccionar el tratamiento preciso (AU)

Introduction: Tuberculosis (TB) is a chronic granulomatose infection, and granulomatosis with polyangiitis (GP) is a small vessel vasculitis, both of which affect the lungs. The combination of these diseases is rare. Both have similar clinical features, making the differential diagnosis difficult. Case report: It concerns a 37 year-old female undergoing treatment for pulmonary TB, who presented with left ocular proptosis, eyelid and conjunctival edema and erythema. Orbital biopsy revealed GP. C-Anti-neutrophil cytoplasmic antibodies were elevated. The patient responded well to immunosuppressive treatment. Conclusion: TB and GP can associate. Diagnosis should include not only C-anti-neutrophil cytoplasmic antibodies, but also a biopsy, in order to select the appropriate treatment (AU)

Bronchocentric Granulomatosis in an Immunocompetent Patient / Granulomatosis broncocéntrica en un paciente inmunocompetente

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Sarcoidosis con hipertrofia bilateral parotídea como primer síntoma / Sarcoidosis with bilateral parotid hypertrophy as the first symptom

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Utilidad de la tomografía por emisión de positrones con 18F-fluorodeoxiglucosa en la enfermedad de Still / Usefulness of positron emission tomography with 18F-fluorodeoxyglucose in Still’s disease

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Comportamiento de los pacientes con diagnóstico tardío de lepra. Camaguey, Cuba, 2015 / No disponible

Se realizó un estudio descriptivo, longitudinal y retrospectivo con el objetivo de caracterizar el comportamiento de los pacientes con diagnóstico tardío de lepra notificados durante el período comprendido del 1 de enero del 2009 al 30 de septiembre del 2014 residentes en la provincia Camagüey. El universo de estudio estuvo constituido por 26 pacientes con diagnóstico tardío de lepra. Se determinó que el grupo de edad más afectado fue el de 60 años y más, con predominio del sexo masculino, escolaridad primaria y per cápita familiar regular. El mayor tiempo transcurrido entre los primeros síntomas y el diagnóstico fue de 1 a 3 años y la mancha anestésica constituyó el signo más frecuente de inicio de la enfermedad. Aproximadamente la mitad de los pacientes estuvieron evaluados por especialistas de Medicina General Integral antes del diagnóstico. Predominó la lepra lepromatosa, la discapacidad grado I, de localización en los pies y de tipo anestesia. Alrededor de las tres cuartas partes de los pacientes fueron detectados de forma espontánea y casi la mitad de los mismos presentó un tiempo de permanencia en el área de salud de entre 1 y 2 años

A descriptive, longitudinal and retrospective study was made with the aim of characterizing the behavior of the patients with a diagnosis of late leprosy notified during the period of January 1st, 2009 up to September 30th, 2014 in the county of Camagüey. The study consisted of 26 patients with a late diagnosis of leprosy. It was determined that the most affected age group was that of 60 years and above, with prevalence of the men, primary education and middle family per capita. The longest delay between first symptoms and diagnosis went from 1 to 3 years and the anesthetic patch constituted the most frequent sign as initial start of the illness. Approximately half of the patients were evaluated by specialists of Integral General Medicine before the diagnosis. The most frequent type was lepromatous leprosy, disability grade I prevailed mainly on feet. Approximately three fourths of the patients were detected in a spontaneous way and almost half of them were present in the area between 1 and 2 years

Sarcoidosis papulosa de las rodillas / Papular sarcoidosis of the knees

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Síndrome de Löfgren familiar / Löfgren's familiar syndrome

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Tuberculosis in an autosomal recessive case of chronic granulomatous disease due to mutation of the NCF1 gene

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Dermatitis granulomatosa como manifestación cutánea de trastornos hematológicos: primer caso asociado a policitemia vera y un nuevo caso asociado a mielodisplasia / Granulomatous Dermatitis as a Cutaneous Manifestation of Hematologic Disorders: The First Case Associated With Polycythemia Vera and a New Case Associated With Myelodysplasia

Las dermatitis de patrón granulomatoso se han relacionado con trastornos hematológicos, entre ellos los síndromes mielodisplásicos. En este artículo se describe el primer caso de dermatitis granulomatosa asociado a policitemia vera, en forma de grandes nódulos eritematosos simulando paniculitis, y el séptimo caso asociado a mielodisplasia, con placas eritematosas en cara y cuello que recordaban a una dermatosis neutrofílica. Consideramos de especial interés para el dermatólogo conocer esta dermatosis como manifestación no específica de diferentes trastornos hematológicos, y sugerimos la realización de un estudio complementario (hemograma) en el caso de que la clínica cutánea sea el comienzo. Del mismo modo, proponemos el término más amplio de dermatitis granulomatosas para denominarlas, puesto que, si bien las formas intersticiales son más numerosas en la literatura, también se han publicado casos más nodulares, y la importancia de su diagnóstico no radica en el subtipo sino en su relación con un trastorno subyacente

Granulomatous dermatitis has been associated with hematologic disorders, including the myelodysplastic syndromes. We describe the first case of granulomatous dermatitis associated with polycythemia vera, presenting as large erythematous nodules mimicking panniculitis. We also present the seventh case associated with myelodysplasia, with erythematous plaques on the face and neck, similar to a neutrophilic dermatosis. We consider it particularly interesting for dermatologists to be aware of this dermatosis as a nonspecific manifestation of various hematologic disorders. We suggest performing additional tests (complete blood count) to exclude the possibility that the skin manifestations are the initial sign of hematologic disease. Furthermore, we propose using the broader term, granulomatous dermatitis, to refer to these disorders as, although there are more reports of interstitial forms, cases with a more nodular presentation have also been published, and the importance of the diagnosis derives not from the subtype but from the relationship with an underlying disease