Differences between Blau syndrome and early onset sarcoidosis?
• Nothing. They are the same disease and are also known as familial granulomatous arthritis.
• Characterized by recurrent granulomatous inflammation of the joints (polyarthritis or tenosynovitis), eyes (anterior uveitis or panuveitis), and skin (dermal granulomas) with onset before the age of 5 years.
• Other manifestations include multiple interphalangeal contractures, cranial neuropathies, fever, and large-vessel vasculitis.
• Associated with mutations in the NOD2/CARD15 gene on chromosome 16. Interestingly, different polymorphisms in NOD2/CARD15 are associated with susceptibility to Crohn’s disease; however, there is no bowel inflammation in Blau syndrome.
• Infliximab, corticosteroids, and anakinra have proven beneficial. Joint deformity and visual impairment can occur in nonresponders.