Gene affected: nucleotide oligomerization domain 2 (NOD2)
Location: 16q21
The syndrome may be familial with autosomal dominant inheritance or sporadic.
Classic triad:
(1) granulomatous dermatitis, which may present as a neonatal rash
(2) polyarticular synovitis and tenosynovitis
(3) uveitis with or without choroiditis
Additional clinical findings may include:
(1) lymphadenopathy
(2) sialadenitis
(3) fever
(4) granulomatous glomerulonephritis or interstitial nephritis
(5) interstitial lung disease and/or pulmonary hypertension
(6) arterial hypertension
(7) hepatic granulomatous infiltration
(8) erythema nodosum
(9) neuropathies
(10) pericarditis
(11) leukocytoclastic vasculitis
