/Blau syndrome

Blau syndrome

Rare Disease

MONDO:0008523

Also Known As

BLAUSBlau syndromeEOSJabs syndromearthrocutaneouveal granulomatosisearly-onset sarcoidosisgranulomatosis, familial juvenile systemicgranulomatosis, familial, Blau typegranulomatous inflammatory arthritis, dermatitis, and uveitis, familialpaediatric granulomatous arthritispediatric granulomatous arthritissarcoidosis, early-onsetACUGsynovitis granulomatous with uveitis and cranial neuropathiessynovitis, granulomatous, with uveitis and cranial neuropathies

Definition

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.