Uveitis despite adalimumab therapy in Blau syndrome.
Takeshi Takasaki, Meri Watanabe, Yuta Kawahara et al.
✦ AI-curated · Sources linked
Case in brief
A middle childhood boy initially diagnosed with oligoarticular juvenile idiopathic arthritis presented with persistent arthritis, recurrent fever, and skin lesions. Genetic testing revealed a NOD2 variant confirming Blau syndrome. Despite treatment with methotrexate and adalimumab, he developed unilateral anterior uveitis and bilateral chorioretinal lesions. Ocular inflammation resolved with topical corticosteroids and an increased dose of adalimumab.
What made this case unusual
The case illustrates the occurrence of uveitis in a patient with Blau syndrome despite ongoing biologic therapy, highlighting the need for vigilant monitoring.
Diagnostic / clinical pearl
Clinicians should consider Blau syndrome in patients with arthritis and skin lesions, as it can mimic juvenile idiopathic arthritis and may require regular ophthalmic evaluations.
Why it matters
This case underscores the importance of recognizing potential complications like uveitis in patients with Blau syndrome, even when on effective biologic treatments.