Blau syndrome
Pronunciation: BLAW sin-drome
A rare monogenic autoinflammatory disorder causing granulomatous arthritis, dermatitis, and uveitis in children.
Full Definition
Blau syndrome is a rare autosomal dominant autoinflammatory condition caused by mutations in the NOD2/CARD15 gene. It typically presents in early childhood with a classic triad of granulomatous polyarthritis, dermatitis with papular skin lesions, and chronic uveitis. The arthritis often affects small joints and can be destructive if untreated. Skin manifestations include small, flesh-colored or hyperpigmented papules, particularly around joints. The condition requires differentiation from juvenile idiopathic arthritis and other inflammatory arthropathies through genetic testing and sometimes tissue biopsy showing characteristic granulomatous inflammation.
Usage
Usage note: Capitalize as proper noun; distinguish from early-onset sarcoidosis which has similar features.
In Context
- "The combination of symmetric polyarthritis and characteristic skin papules raised suspicion for Blau syndrome." — Case presentation
- "Genetic testing confirmed a NOD2 mutation consistent with Blau syndrome in this 4-year-old patient." — Diagnostic report