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A Case of Blau Syndrome

We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and w...

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Autores principales: Chauhan, Krati, Michet, Clement
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021837/
https://www.ncbi.nlm.nih.gov/pubmed/24876985
http://dx.doi.org/10.1155/2014/216056
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author Chauhan, Krati
Michet, Clement
author_facet Chauhan, Krati
Michet, Clement
author_sort Chauhan, Krati
collection PubMed
description We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist.
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spelling pubmed-40218372014-05-29 A Case of Blau Syndrome Chauhan, Krati Michet, Clement Case Rep Rheumatol Case Report We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA). He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist. Hindawi Publishing Corporation 2014 2014-05-04 /pmc/articles/PMC4021837/ /pubmed/24876985 http://dx.doi.org/10.1155/2014/216056 Text en Copyright © 2014 K. Chauhan and C. Michet. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Chauhan, Krati
Michet, Clement
A Case of Blau Syndrome
title A Case of Blau Syndrome
title_full A Case of Blau Syndrome
title_fullStr A Case of Blau Syndrome
title_full_unstemmed A Case of Blau Syndrome
title_short A Case of Blau Syndrome
title_sort case of blau syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021837/
https://www.ncbi.nlm.nih.gov/pubmed/24876985
http://dx.doi.org/10.1155/2014/216056
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