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Blau syndrome, the prototypic auto-inflammatory granulomatous disease.

Wouters CH, Maes A, Foley KP, Bertin J, Rose CD - Pediatr Rheumatol Online J (2014)

Bottom Line: Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis.This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms.Finally, emerging insights into pathogenic mechanisms including activation of NOD2 signal transduction, and potential biomarkers of disease activity are discussed.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Microbiology and Immunology, Pediatric Immunology, KU Leuven - University of Leuven, B-3000 Leuven, Belgium ; Department of Pediatrics, Division Pediatric Rheumatology, University Hospitals Leuven, B-3000 Leuven, Belgium.

ABSTRACT
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms. From an ongoing prospective multicenter study, we provide new data on the natural history of Blau syndrome, focusing on functional status and visual outcome. We also present an update of the range of different NOD2 mutations found in Blau syndrome as well as recent data on morphologic and immunohistochemical characteristics of the Blau granuloma. Finally, emerging insights into pathogenic mechanisms including activation of NOD2 signal transduction, and potential biomarkers of disease activity are discussed.

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Exuberant ‘boggy’ synovitis of wrist in a child with Blau syndrome.
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Figure 1: Exuberant ‘boggy’ synovitis of wrist in a child with Blau syndrome.

Mentions: Blau arthritis manifests as a polyarticular “boggy” synovitis and tenosynovitis which constitutes a characteristic phenotypical feature. Data from the Blau international registry revealed polyarticular arthritis at presentation in 96% of patients with a “boggy”/exuberant aspect in 75%[6]. Arthritis typically affects peripheral joints mainly wrists, knees, ankles, and proximal interphalangeal (PIP) joints of the hands. Other peripheral joints are less commonly affected and involvement of the axial skeleton and the temporo-mandibular joint has not been described. Tenosynovitis is equally a characteristic feature; tendon sheaths appear enlarged on examination; most often the extensor tendons of the wrist, the pes anserinus, peroneal and flexor tibialis tendon sheaths are affected. Despite the chronicity of exuberant arthritis, joint destruction is not commonly reported, and range of motion is relatively well preserved, especially in the larger joints. Conversely, the PIP joints often develop a contracture relatively early in the course of the disease and out of proportion to the degree of synovitis. This deformity, originally described as camptodactyly, may be the result of dysplastic changes, distinct from the inflammation-associated joint contracture as seen in polyarticular juvenile idiopathic arthritis (JIA)[8]. Figures 1 and2 show the characteristic appearance of Blau arthritis. More detailed descriptions of the articular phenotype are available in other publications[9-14].


Blau syndrome, the prototypic auto-inflammatory granulomatous disease.

Wouters CH, Maes A, Foley KP, Bertin J, Rose CD - Pediatr Rheumatol Online J (2014)

Exuberant ‘boggy’ synovitis of wrist in a child with Blau syndrome.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4136643&req=5

Figure 1: Exuberant ‘boggy’ synovitis of wrist in a child with Blau syndrome.
Mentions: Blau arthritis manifests as a polyarticular “boggy” synovitis and tenosynovitis which constitutes a characteristic phenotypical feature. Data from the Blau international registry revealed polyarticular arthritis at presentation in 96% of patients with a “boggy”/exuberant aspect in 75%[6]. Arthritis typically affects peripheral joints mainly wrists, knees, ankles, and proximal interphalangeal (PIP) joints of the hands. Other peripheral joints are less commonly affected and involvement of the axial skeleton and the temporo-mandibular joint has not been described. Tenosynovitis is equally a characteristic feature; tendon sheaths appear enlarged on examination; most often the extensor tendons of the wrist, the pes anserinus, peroneal and flexor tibialis tendon sheaths are affected. Despite the chronicity of exuberant arthritis, joint destruction is not commonly reported, and range of motion is relatively well preserved, especially in the larger joints. Conversely, the PIP joints often develop a contracture relatively early in the course of the disease and out of proportion to the degree of synovitis. This deformity, originally described as camptodactyly, may be the result of dysplastic changes, distinct from the inflammation-associated joint contracture as seen in polyarticular juvenile idiopathic arthritis (JIA)[8]. Figures 1 and2 show the characteristic appearance of Blau arthritis. More detailed descriptions of the articular phenotype are available in other publications[9-14].

Bottom Line: Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis.This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms.Finally, emerging insights into pathogenic mechanisms including activation of NOD2 signal transduction, and potential biomarkers of disease activity are discussed.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Microbiology and Immunology, Pediatric Immunology, KU Leuven - University of Leuven, B-3000 Leuven, Belgium ; Department of Pediatrics, Division Pediatric Rheumatology, University Hospitals Leuven, B-3000 Leuven, Belgium.

ABSTRACT
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms. From an ongoing prospective multicenter study, we provide new data on the natural history of Blau syndrome, focusing on functional status and visual outcome. We also present an update of the range of different NOD2 mutations found in Blau syndrome as well as recent data on morphologic and immunohistochemical characteristics of the Blau granuloma. Finally, emerging insights into pathogenic mechanisms including activation of NOD2 signal transduction, and potential biomarkers of disease activity are discussed.

Show MeSH
Related in: MedlinePlus