Differences between Blau syndrome and early onset sarcoidosis

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.

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