Jabs Blau syndrome

Jabs Blau syndrome


Jabs Blau syndrome is a rare chronic inflammatory condition which characterized by familial granulomatous synovitis, arthritis, dermatitis and uveitis, and cranial neuropathies.


It has following symptoms such as:

  • Cranial neuropathies
  • Bilateral neurosensory loss
  • 6th cranial nerve palsy
  • Acute iridocyclitis
  • Boutonniere deformities
  • Boggy polysynovitis of hands and wrists

It is proposed to include Blau syndrome and early-onset of sarcoidosis as these two conditions have now been linked following the identification of mutations affecting the same gene and molecular basis. Pediatric granulomatous arthritis also proposed as a unifying name, but this focuses on only the commonest clinical feature, which does not occur in all patients. It one of the monogenic autoinflammatory syndrome. This problem is an autosomal dominant condition whereas early onset sarcoidosis was not familiar. It begins at age of 3 years. It affects a white people more than black.

Willh Sage Asked on August 29, 2016 in Disease.
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