A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course

Imayoshi, Miyoko; Ogata, Yoshiyasu; Yamamoto, Shuichi

doi:10.1155/2018/6292308

Cited by 9 publications

(4 citation statements)

References 38 publications

(65 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Among the 62 patients, IFX was used in 31 patients, adalimumab in 24, and etanercept in 7. IFX was well tolerated in 27 patients [11–22], while 2 patients still had uveitis [7, 23], and the other 2 experienced an adverse drug reaction to IFX infusion [21]. Adalimumab was useful in 21 BS patients [9, 14, 23–28], although the other 3 patients did not get well controlled [21, 29, 30].…”

Section: Resultsmentioning

confidence: 99%

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome

et al. 2019

View full text Add to dashboard Cite

Objectives: Blau syndrome (BS) is a rare dominantly inherited autoinflammatory disorder associated with mutations in the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. Biologic therapy of BS yielded diverse results. We aimed to evaluate clinical features and outcomes of Chinese patients with BS who were treated with tumor necrosis factor (TNF)α inhibitors. Methods: A total of four patients with BS were diagnosed and treated with infliximab (IFX) at the Peking Union Medical College Hospital during 2015 to 2018 and were followed up for 18 months. All patients were systematically studied for treatment outcomes including the clinical manifestations and inflammatory markers. We also conducted a comprehensive literature review about TNFα inhibitor therapy in BS. Results: Four BS patients were all Chinese Han, and three were women. The mean age of disease onset was 4 ± 3.5 years, and the mean time of diagnosis delay was 19 ± 11 years. All patients received IFX plus methotrexate, and all achieved clinical remission of skin lesions and polyarthritis rapidly, as well as normalization of erythrocyte sedimentation rate and C-reactive protein and improvements in inflammatory cytokines, patient visual analogue scale, physician global assessment, and Short Form (SF)-36, at the first follow-up of 6 months. The disease relapsed in two patients after they lengthened the interval of IFX and discontinued methotrexate. According to the 38 English-language publications, 62 patients with BS were reported who underwent TNFα inhibitor therapy, including IFX used in 31, adalimumab in 24, and etanercept in 7. IFX was well tolerated in 27 patients, while 2 still had uveitis, and the other 2 experienced an adverse drug reaction. Conclusions: Early recognition and effective treatment of BS are very important to avoid irreversible organ damage. TNFα inhibitors such as IFX may be a promising approach for BS patients who have unsatisfactory response to corticosteroids and traditional disease-modifying antirheumatic drugs.

show abstract

Section: Resultsmentioning

confidence: 99%

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Rosé et al reported expended manifestations (visceral, vascular) beyond the classic clinical trial in half of the patients [ 116 ]. Physicians should consider BS as a differential diagnosis of early onset sarcoidosis in children with unusual features such as camptodactyly and normal chest computed tomography (CT), even without familial history since BS can also be sporadic [ 117 , 118 ].…”

Section: Clinical Casesmentioning

confidence: 99%

Challenging Mimickers in the Diagnosis of Sarcoidosis: A Case Study

et al. 2021

View full text Add to dashboard Cite

Sarcoidosis is a systemic granulomatous disease of unknown cause characterized by a wide variety of presentations. Its diagnosis is based on three major criteria: a clinical presentation compatible with sarcoidosis, the presence of non-necrotizing granulomatous inflammation in one or more tissue samples, and the exclusion of alternative causes of granulomatous disease. Many conditions may mimic a sarcoid-like granulomatous reaction. These conditions include infections, neoplasms, immunodeficiencies, and drug-induced diseases. Moreover, patients with sarcoidosis are at risk of developing opportunistic infections or lymphoma. Reliably confirming the diagnosis of sarcoidosis and better identifying new events are major clinical problems in daily practice. To address such issues, we present seven emblematic cases, seen in our department, over a ten-year period along with a literature review about case reports of conditions misdiagnosed as sarcoidosis.

show abstract

“…6 BS typically presents in early childhood with a "triad" of symptoms: granulomatous dermatitis, uveitis, and nonerosive arthritis. 2,7 However, as further cases of BS are described, novel reports of involvement of various systems have emerged. [1][2][3]5,[7][8][9][10][11] Limited reports of vascular insult exist, 8 with a total of seven available references, mainly in the form of Takayasu's arteritis.…”

Section: Introductionmentioning

confidence: 99%

“…2,7 However, as further cases of BS are described, novel reports of involvement of various systems have emerged. [1][2][3]5,[7][8][9][10][11] Limited reports of vascular insult exist, 8 with a total of seven available references, mainly in the form of Takayasu's arteritis. 9,10 Herein, we describe a case of BS with Takayasu's arteritis lesions in an Afghan patient.…”

Section: Introductionmentioning

confidence: 99%

Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis

Bikouli

Vazeou

Xatzipsalti

et al. 2021

Journal of Child Science

View full text Add to dashboard Cite

Blau syndrome (BS) is a rare, autosomal dominant monogenic autoinflammatory disease, usually presenting as a triad of symptoms (granulomatous dermatitis, uveitis, and nonerosive arthritis) and caused by gain-of-function mutations in the nucleotide oligomerization domain 2 (NOD2) gene. However, very few reports in children of copresence of BS with large vessel vasculitis exist. We hereby describe a case of BS associated with clinical features of Takayasu arteritis. An 8.5-year-old boy presented with hypertension, cardiac insufficiency, arthritis, and ocular disease. Among other investigations, he underwent cervical and chest computed tomography and computed tomography angiography scans that revealed the presence of type IIa Takayasu arteritis lesions. Genetic analysis revealed a heterozygous mutation of NOD2 gene leading to the amino acid exchange Arg-587-Cys in the NACHT domain of the NOD2 protein (R587C) as pathogenic cause of BS. He received treatment with prednisolone, methotrexate, and infliximab (antitumor necrosis factor-α) in addition to antihypertensive medication with a favorable clinical response. Cases of BS should be investigated for the coexistence of Takayasu arteritis. However, further research is required to delineate a possible common pathogenic mechanism between the two clinical entities.

show abstract

A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course

Cited by 9 publications

References 38 publications

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome

Challenging Mimickers in the Diagnosis of Sarcoidosis: A Case Study

Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis

Contact Info

Product

Resources

About