Blau syndrome: An under-reported condition in India?

Agarwal, Aniruddha; Karande, Sunil

doi:10.4103/jpgm.jpgm_1016_21

Cited by 4 publications

(2 citation statements)

References 34 publications

(104 reference statements)

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“…Indocyanine angiography (ICGA) is a method involving the intravenous administration of indocyanine dye, which is essential for detecting subclinical choroidal inflammation and monitoring responses to treatment. It has been used successfully in the diagnosis of uveitis in the course of tuberculosis [ 34 ], Blau syndrome [ 40 ], systemic lupus erythematosus [ 41 ], and Vogt–Koyanagi–Harada disease [ 42 ].…”

Section: Resultsmentioning

confidence: 99%

Diagnosis and Treatment of Uveitis in Children: A Summary of the Latest Data from a 5-Year Literature Review (2018–2023)

Modrzejewska,

Zdanowska

2024

JCM

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Pediatric uveitis has a low incidence. It is very diverse in its presentation and is often the first sign of a severe systemic disease. The pediatric population poses a special therapeutic and diagnostic challenge due to the potentially adverse effects of therapeutic agents on the young body and difficult cooperation with the patient during the examination, as well as the increased risk of complications that can lead to severe disability. The most commonly diagnosed type of uveitis is non-infectious, with first-line therapy consisting of systemic corticosteroids followed by disease-modifying drugs (methotrexate (MTX), mycophenolate mofetil (MMF), and cyclosporin A (CsA)). In severe, refractory cases, biologic therapy is used. The authors reviewed the current literature on the etiology, diagnostic tools, and treatment of uveitis in the pediatric population covering the years 2018–2023, presenting current methods of modern diagnosis and treatment. The reason for writing this article was the need to update the knowledge on uveitis, driven by the increasing prevalence of autoimmune uveitis in the pediatric population. This trend presents significant challenges in diagnosing and treating the disease, as well as managing its complications. Correctly identifying the pathogenetic factor of uveitis can facilitate the diagnosis of the systemic disease underlying the ocular infection and enable the timely implementation of systemic treatment. Furthermore, the emergence of new diagnostic methods necessitates a revision and update of ophthalmic knowledge, essential for both ophthalmologists and other specialists involved in the treatment of uveitis.

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Section: Resultsmentioning

confidence: 99%

Diagnosis and Treatment of Uveitis in Children: A Summary of the Latest Data from a 5-Year Literature Review (2018–2023)

Modrzejewska,

Zdanowska

2024

JCM

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“…However, an BS/EOS patient without joint involvement has also been reported [ 51 ]. In Blau syndrome, differential diagnosis with JIA, Behçet’s disease, ocular tuberculosis and ocular sarcoidosis was proposed [ 27 , 28 ].…”

Section: Differential Diagnosismentioning

confidence: 99%

Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis

Bazewicz,

Heissigerova,

Pavesio

et al. 2023

J Ophthal Inflamm Infect

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Sarcoidosis-associated uveitis, is the predominant ocular sarcoidosis presentation, which affects both adults and children. For adults, international ocular sarcoidosis criteria (IWOS) and sarcoidosis-associated uveitis criteria (SUN) are defined. However, for children they are not yet established internationally. Due to the specificity of pediatric manifestations of sarcoidosis, this task is even more challenging. In children, sarcoidosis is subdivided into Blau syndrome and early-onset sarcoidosis (BS/EOS) affecting younger children (< 5 years) and the one affecting older children with clinical presentation resembling adults. Differential diagnosis, clinical work-up as well as diagnostic criteria should be adapted to each age group. In this article, we review the clinical manifestation of sarcoidosis-associated uveitis in adults and children and the sensitivity and specificity of various ocular sarcoidosis diagnostic modalities, including chest X-ray and CT, FDG PET-CT, gallium-67 scintigraphy, bronchoalveolar lavage fluid, genetic testing for NOD2 mutations and serum biomarkers, such as ACE, lysozyme and IL2R.

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An Interesting Case of Blau Syndrome – A Rare Autoinflammatory Disease

Nagpal,

Singh

2024

Indian Journal of Medical Specialities

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Blau syndrome is an autosomal dominant, autoinflammatory disease. It typically presents in early childhood with a triad of granulomatous uveitis, symmetrical arthritis, and dermatitis. A 6-year-old child presented to us after being diagnosed with granulomatous uveitis. Examination revealed bilateral boggy wrist swellings. Suspecting Blau syndrome, clinical exome sequencing was performed, which reported a mutation in the NOD2/CARD15 gene confirming the diagnosis. Our case demonstrates that the classical triad of this disease may not be present in all patients, and all features may not occur simultaneously. A high index of suspicion is required for the diagnosis of this rare disease.

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Blau syndrome: An under-reported condition in India?

Cited by 4 publications

References 34 publications

Diagnosis and Treatment of Uveitis in Children: A Summary of the Latest Data from a 5-Year Literature Review (2018–2023)

Diagnosis and Treatment of Uveitis in Children: A Summary of the Latest Data from a 5-Year Literature Review (2018–2023)

Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis

An Interesting Case of Blau Syndrome – A Rare Autoinflammatory Disease

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