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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. Advertisement.
Aug 6, 2014 · 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.
- 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.
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What is Blau syndrome?
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Blau Syndrome, or early-onset sarcoidosis, is hereditary juvenile-onset systemic granulomatosis. Clinical symptoms appear before the age of four years and mainly affect the skin, joints, and eyes. The symptoms are progressive and cause severe complications, such as joint destruction and blindness. Although tumor necrosis factor alpha (TNFα ...
- Sanami Takada, Megumu K Saito, Naotomo Kambe
- 2020
Jun 29, 2020 · Blau syndrome is a monogenic disease. This means that it occurs due to a single modification in one gene present in all of the body’s cells. Blau syndrome seems to result from a single mutation ...
- Jennifer Huizen
Sep 22, 2023 · Blau syndrome is a rare genetic granulomatosis affecting children. It could be responsible for vision-threatening complications and articular deformation. Due to the rarity of this disease, there are no standardized guidelines for its management. This work aimed to provide an updated overview of the different therapeutic options for Blau syndrome. We conducted research in the PubMed database ...
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 .
Oct 4, 2022 · Blau syndrome is a rare disease that causes arthritis symptoms, like pain and form changes in the joints, skin rashes and discoloration, and eye problems.
