Familial Granulomatous Arteritis with Polyarthritis of Juvenile Onset

Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

“…Although rare cases of familial early infantile sarcoidosis have been described [Rotenstein et al, 1982;Miller, 1986;Hafnerr and Vogel, 1993], these are quite different from classical childhood sarcoidosis because of the very early onset (before age 4 years), frequent arteritis leading to hypertension, fever, and severe evolution. Miller [1986] proposed the term ''juvenile systemic granulomatosis'' to distinguish this disease from childhood sarcoidosis.…”

CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large‐vessel arteritis and cranial neuropathy

“…Affected individuals typically exhibit one or more of the following granulomatous inflammations, which are variable in terms of age at onset: acute anterior uveitis, arthritis (sometimes associated with camptodactyly), and skin rash. Recent studies on families with Blau syndrome have revealed the involvement of other organs in addition to the skin, joint, and eye, as well as other symptoms such as cranial neuropathies (2), fever (3)(4)(5)(6), cerebral infarction (7), sarcoid-like hepatic granulomata (6), arteritis and/or malignant hypertension (3)(4)(5), and renal lesions (8). The Blau syndrome phenotype therefore may be more complex than previously suspected, and we have suggested that Blau syndrome and related disorders are a subset of the familial granulomatosis syndromes (9).…”

Widespread Granulomatous Dermatitis of Infancy

“…17,21 The clinical manifestations of EOS/BS can extend beyond the classic triad. Additional systemic features have included cranial neuropathies 11,17 ; granulomatous large-vessel vasculitis that involves the carotid, renal, and cerebral arteries 11,[14][15][16]19,24,61,62 ; and granulomatous inflammation of the liver, kidneys, lung, heart, and epididymis (typically occurring in later stages of the disease). 14,16,23,26,30,55,63 Some patients have also presented with recurrent fevers, which are infrequently observed in typical EOS/BS.…”

“…Additional systemic features have included cranial neuropathies 11,17 ; granulomatous large-vessel vasculitis that involves the carotid, renal, and cerebral arteries 11,[14][15][16]19,24,61,62 ; and granulomatous inflammation of the liver, kidneys, lung, heart, and epididymis (typically occurring in later stages of the disease). 14,16,23,26,30,55,63 Some patients have also presented with recurrent fevers, which are infrequently observed in typical EOS/BS. [14][15][16]19,23,29,64 The inclusion of disorders initially reported as "familial granulomatous synovitis, uveitis, and cranial neuropathies" 17 and "familial granulomatous arteritis with polyarthritis" 16 within the clinical spectrum of BS is supported by the documentation of NOD2 mutations (including Arg334Gln/Trp) in these subsets of patients.…”

“…14,16,23,26,30,55,63 Some patients have also presented with recurrent fevers, which are infrequently observed in typical EOS/BS. [14][15][16]19,23,29,64 The inclusion of disorders initially reported as "familial granulomatous synovitis, uveitis, and cranial neuropathies" 17 and "familial granulomatous arteritis with polyarthritis" 16 within the clinical spectrum of BS is supported by the documentation of NOD2 mutations (including Arg334Gln/Trp) in these subsets of patients. 10,11,23,32 It is likely that additional modifying genes have a role in the development of EOS/BS with prominent involvement of large blood vessels and internal organs.…”