Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

Manouvrier‐Hanu, Sylvie; Puech, Bernard; Piette, Fanny; Boute-Benejean, O.; Desbonnet, A.; Duquesnoy, B; Farriaux, J P

doi:10.1002/(sici)1096-8628(19980319)76:3<217::aid-ajmg4>3.0.co;2-n

Cited by 80 publications

(18 citation statements)

References 6 publications

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“…Our data demonstrate that a wide range of synovial sites can be affected mostly in a symmetrical manner in patients with Blau syndrome. Most frequently involved joints identified in this study are consistent with the previous reports [1,7,13-15]. However, our data provide novel and more specific information on the anatomical site (intra-articular synovium versus tenosynovium versus bursa), the chronicity (currently active inflammation versus chronic swelling versus subsequent contracture), and the severity (mild versus severe).…”

Section: Discussionsupporting

confidence: 91%

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Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome

et al. 2014

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IntroductionArthritis is the most frequent manifestation of Blau syndrome, an autoinflammatory disorder caused by the genetic mutation of NOD2. However, detailed information on arthritis in Blau syndrome on which the therapeutic strategy should be based on is lacking. This multi-center study aimed to accurately characterize the articular manifestation of Blau syndrome and also to demonstrate the utility of musculoskeletal ultrasound in Blau syndrome.MethodsPatients who had been diagnosed with Blau syndrome by genetic analysis of NOD2 were recruited. A total of 102 synovial sites in 40 joints were assessed semiquantitatively by ultrasound for gray-scale synovitis and synovial power Doppler (PD) signal.ResultsIn total, 10 patients whose age ranged from 10 months to 37 years enrolled in this study. Although only 4 joints (0.8%) were tender on physical examination, 81 joints (16.9%) were clinically swollen. Moreover, 240 (50.0%), and 124 (25.8%) joints showed gray-scale (GS) synovitis and synovial PD signal on ultrasound, respectively. Importantly, GS synovitis was present in 168 out of 399 non-swollen joints, in which 61 also exhibited synovial PD signal. Among 40 joint regions, the ankle, the wrist, and the proximal interphalangeal joints were the most frequently and severely affected joints. Comparisons between different synovial tissues demonstrated a significantly higher proportion of the joints with tenosynovitis as compared with that with intra-articular synovitis (41.5% versus 27.9%, P < 0.0001). In respect of age and treatment, synovial PD signals were minimal in the youngest patient and in the oldest two patients, and were relatively mild in patients receiving treatment with methotrexate plus TNF antagonists. In two patients who underwent the second ultrasound examination, total PD scores markedly decreased after initiating the treatment with a tumor necrosis factor (TNF) antagonist.ConclusionsThe detailed information on synovial inflammation obtained by ultrasound confirms the dissociation between pain and inflammation and the frequently involved joint regions and synovial tissue in the arthritis of Blau syndrome. Our data also demonstrate that ultrasonography can be a potent tool in monitoring the activity of synovial inflammation and in investigating the pathophysiology of arthritis in this rare but archetypical autoinflammatory condition.

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Section: Discussionsupporting

confidence: 91%

“…Arthritis is the most frequent manifestation of Blau syndrome and usually becomes clinically apparent within the first decade of life [1,5,7,11-15]. Joint manifestation in Blau syndrome has been reported to be chronic, symmetrical, and mostly painless polyarthritis.…”

Section: Introductionmentioning

confidence: 99%

Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome

et al. 2014

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“…Wrist, metacarpophalangeal, metatarsophalangeal, proximal interphalangeal, ankles, and elbows are the most common joints involved [10]. Hypertrophic tenosynovitis and synovial cyst results in Camptodactyly [4] and chronic arthritis leads to finger deformity and ankylosis of wrist joint [11]. …”

Section: Discussionmentioning

confidence: 99%

A Case of Blau Syndrome

Chauhan

Michet

2014

Case Reports in Rheumatology

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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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“…Figure 2 outlines a general diagnostic algorithm for sarcoidosis. Unless one of the special clinical situations previously described is present, the diagnosis usually requires histological confirmation of granulomatous inflammation, exclusion of alternative causes of granulomatous inflammation, evidence of systemic (multiorgan) disease, and exclusion of rare alternative multisystem granulomatous diseases such as Blau syndrome (37) or granulomatous lesions of unknown significance (38).…”

Section: Diagnosismentioning

confidence: 99%

A Concise Review of Pulmonary Sarcoidosis

Baughman

Culver²,

Judson

2011

Am J Respir Crit Care Med

438

330

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This is an update on sarcoidosis, focusing on etiology, diagnosis, and treatment. In the area of etiopathogenesis, we now have a better understanding of the immune response that leads to the disease as well as genetic factors that modify both the risk for the disease and its clinical outcome. Several groups have also identified possible agents as a cause for sarcoidosis. Although none of these potential causes has been definitely confirmed, there is increasing evidence to support that one or more infectious agents may cause sarcoidosis, although this organism may no longer be viable in the patient. The diagnosis of sarcoidosis has been significantly aided by new technology. This includes the endobronchial ultrasound, which has been shown to increase the yield of needle aspiration of mediastinal and hilar lymph nodes. The positive emission tomography scan has proven useful for selecting possible biopsy sites by identifying organ involvement not appreciated by routine methodology. It has also helped in assessing cardiac involvement. The biologic agents, such as the anti-tumor necrosis factor antibodies, have changed the approach to refractory sarcoidosis. There is increasing evidence that the clinician can identify which patient is most likely to benefit from such therapy. As new and more potent antiinflammatory agents have been developed, it is clear that there are other factors that burden the patient with sarcoidosis, including fatigue and sarcoidosis-associated pulmonary hypertension. There have been several recent studies demonstrating treatment options for these problems.

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Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

Cited by 80 publications

References 6 publications

Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome

Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome

A Case of Blau Syndrome

A Concise Review of Pulmonary Sarcoidosis

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