Granulomatous arthritis of childhood

Granulomatous arthritis of childhood, also known as Blau syndrome or familial juvenile systemic granulomatosis, is a rare autoinflammatory disorder characterized by the triad of granulomatous dermatitis, symmetric polyarthritis, and recurrent uveitis. The condition typically presents in early childhood, usually before age 5, and is caused by gain-of-function mutations in the NOD2 (CARD15) gene. The sporadic form of this condition is referred to as early-onset sarcoidosis. The disease primarily affects the joints, skin, and eyes. Joint involvement manifests as a boggy, symmetric polyarthritis with prominent tenosynovitis and granulomatous inflammation of the synovium, which can lead to camptodactyly (permanent flexion contractures of the fingers). Skin findings include a tan-colored, scaly, ichthyosis-like rash or erythematous papules. Ocular involvement includes chronic anterior uveitis, which can be severe and lead to vision loss if untreated. Other systems may occasionally be affected, including the kidneys, blood vessels (granulomatous vasculitis), liver, and lungs. Treatment is primarily aimed at controlling inflammation and preventing organ damage. Corticosteroids are commonly used, along with immunosuppressive agents such as methotrexate. Biologic therapies, particularly TNF-alpha inhibitors (such as infliximab and adalimumab), have shown benefit in managing refractory disease. IL-1 receptor antagonists (anakinra) have also been used in some cases. Regular ophthalmologic monitoring is essential to prevent complications from uveitis.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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