Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rß1 Deficiency.

PURPOSE: Mendelian susceptibility to mycobacterial disease is a rare clinical condition characterized by a predisposition to infectious diseases caused by poorly virulent mycobacteria. Other infections such as salmonellosis and candidiasis are also reported. The purpose of this article is to describe a young boy affected with various infectious diseases caused by Mycobacterium tuberculosis complex, Salmonella sp, Klebsiella pneumonie, Citrobacter sp., and Candida sp, complicated with severe enteropathy and transient hypogammaglobulinemia. METHODS: We reviewed medical records and performed flow cytometry staining for lymphocyte populations, lymphocyte proliferation in response to PHA, and intracellular IFN-γ production in T cell PHA blasts in the patient and a healthy control. Sanger sequencing was used to confirm the genetic variants in the patient and relatives. RESULTS: Genetic analysis revealed a bi-allelic mutation in IL12RB1 (C291Y) resulting in complete IL-12Rß1 deficiency. Functional analysis demonstrated the lack of intracellular production of IFN-γ in CD3+ T lymphocytes from the patient in response to rhIL-12p70. CONCLUSIONS: To our knowledge, this is the third patient with MSMD due to IL-12Rß1 deficiency complicated with enteropathy and hypogammaglobulinemia and the first case of this disease to be described in Colombia.

Sarcoidosis cutánea / Cutaneus sarcoidosis

La sarcoidosis en una enfermedad granulomatosa que puede afectar casi cualquier órgano. Se presenta más frecuentemente entre la tercera y la cuarta década de la vida y hasta el momento su etiología es desconocida, aunque se sugiere que factores ambientales, exposición a algunos microrganismos y la predisposición genética pueden ser importantes en su desarrollo. La piel puede comprometerse hasta en un 30 % en los pacientes con sarcoidosis sistémica, con manifestaciones específicas, dentro de las cuales la de tipo papular es la más común, o inespecíficas, como el eritema nodoso. Debido a que las lesiones cutáneas proveen un sitio accesible para realizar el diagnóstico de la enfermedad, es importante aprender a reconocerlas. En esta revisión se hace un repaso de las manifestaciones cutáneas más frecuentes de la sarcoidosis y de su tratamiento, para ello se realizó una búsqueda en las bases de datos de Pubmed, Hinari y Cochrane hasta febrero del 2013, empleando palabras clave como sarcoidosis, y sarcoidosis cutánea, en artículos publicados en castellano e inglés, durante los últimos 10 años.

Sarcoidosis is a granulomatous disease that can affect almost any organ. It occurs most commonly between the third and fourth decade and its etiology is unknown, but it is suggested that environmental factors, exposure to certain microorganisms and genetic predisposition may be important in its development. The skin may be affected in 30 % of patients with systemic sarcoidosis, presenting in this organ specific manifestation, being the papular de most common, or unspecific as erythema nodosum, which is a reactive phenomenon of the disease in which there are non-granulomas. Because skin lesions provide an accessible place for diagnosis of the disease, it is important to learn to recognize. In this review, we repass in the most common cutaneous manifestations of sarcoidosis and its treatment, for that we researched in the databases PubMed, Cochrane Hinari and until February 2013, using keywords such as sarcoidosis, and cutaneous sarcoidosis, in articles published in Spanish and English, for the past 10 years.

Carcinoma de células de Merkel: reporte de caso / Merkel cell carcinoma: a case report

El carcinoma de células de Merkel es un tumor cutáneo inusual de características agresivas, clasificado dentro de los carcinomas neuroendocrinos; clínicamente polimorfos y su forma histológica es muy similar a otros tumores cutáneos, lo que dificulta su diagnóstico precoz. Dada su baja incidencia, la etiopatogenia de este tumor, la reciente descripción de una asociación viral y su tratamiento, son todavía motivo de investigación; por esta razón es importante conocer su fisiopatología y sus manifestaciones clínicas para hacer un diagnóstico claro, en estadios tempranos, y un tratamiento de acuerdo con la condición del paciente. Se describe el caso de un paciente inmunosuprimido con un carcinoma de células de Merkel en cara y cuero cabelludo, recidivante y metastásico, con un comportamiento conforme a lo descrito en la literatura.

Merkel cell carcinoma is an unusual cutaneous neoplasm of aggressive characteristics, classified within neuroendocrine carcinomas; clinically polymorphic and histologically similar to other skin tumors making it difficult for early diagnosis. Given its low incidence; the pathogenesis of this tumor, the recent description of a viral association and its treatment, are still matter of research; for this reason it is important to know its pathophysiology and clinical manifestations in order to perform a clear diagnostic approach in early stages, and treatment in accordance with the patient's condition. We describe the case of an inmunosupressed patient with a Merkel cell carcinoma on face and scalp, recurrent and metastatic, with an evolution consistent to reports in the literature.