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Granulomatous infantile arthritis
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(Blau syndrome, EOS for Early Onset Sarcoidosis)
Chronic inflammatory disease that combines symmetric granulomatous polyarthritis, uveitis and rash, beginning before 5 years of age.
There are two forms:
- a familial form (autosomal dominant transmission): Blau syndrome (see this term)
- a sporadic form known as Early Onset Sarcoidosis.
Both diseases are associated with mutations of the gene coding for NOD2/CARD15 (16q12). This gene is expressed mostly in the monocytes and those mutations seem to cause a dysregulation of the cytokines.
Onset: a persistent erythematous papular rash characterized by the presence of brown spots or reddish scales (granulomatous infection), especially on the back and the extremities. Sometimes clinical presentation similar to granuloma annulare or erythema nodosum. This is followed, shortly afterwards by symmetrical non-erosive arthritis and polyarticular synovitis reaching small and large joints and tendon sheaths. This synovitis is highly proliferative ('boggy'). The early involvement of the proximal inter-phalangeal joints leads to contractures of the camptodactyly type.
In the following year: bilateral granulomatous panuveitis that can be associated with cataracts, glaucoma, band keratopathy and loss of visual acuity.
Sometimes: vasculitis of large vessels (similar to Takayasu arteritis), interstitial nephritis, renal artery stenosis, hepatic or splenic granulomas.
Differential diagnosis: juvenile arthritis, sarcoidosis, pytiriasis rubra pilaris
Treatment: corticosteroids, TNF-blockers.
Anesthetic implications:
check renal function and blood pressure. difficult venous access; chronic corticosteroid therapy.
References :
Updated: October 2021