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Aug 9, 2023 · Blau syndrome is a rare inflammatory disease that affects your child’s skin, joints and eyes. Children inherit a gene change ( mutation) that causes Blau syndrome. Symptoms like skin rashes and arthritis typically appear before your child turns 5. It can also cause uveitis, a problem that affects vision.
Sep 22, 2023 · We conducted research in the PubMed database for the different treatments used in Blau syndrome patients, and we proposed a therapeutic algorithm for disease management. High doses of corticosteroids are considered as a bridging therapy in Blau syndrome. Methotrexate should be initiated if the patient has articular or ocular involvement.
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Aug 6, 2014 · 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.
- Carine H Wouters, Anne Maes, Kevin P Foley, John Bertin, Carlos D Rose
- 10.1186/1546-0096-12-33
- 2014
- Pediatr Rheumatol Online J. 2014; 12: 33.
Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis . [3410] It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and ...
Summary. Blau syndrome is a rare condition characterized mainly by skin rash, arthritis, and uveitis. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea), and focal posterior synechiae (adhesion of the iris to the cornea).
Blau syndrome. Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a mutation in the NOD2 ( CARD15) gene. [2] Symptoms usually begin before the age of four, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis .
Feb 2, 2021 · Patients with Blau syndrome most commonly develop symptoms before the age of 5, although they may not be correctly diagnosed until later in life, particularly when the presentation lacks the characteristic triad of clinical manifestations, or the symptoms present sequentially rather than simultaneously [1, 4, 15, 17, 20, 21].
