Blau syndrome is a monogenic inflammatory disease that classically involves the triad of arthritis, uveitis, and dermatitis. This syndrome is the familial form of early-onset sarcoidosis, and the two entities have some shared mutations in the NOD2 gene. Blau syndrome was first described in 1985 and is characterized predominantly by granulomas in the affected areas. Management remains a challenge, as Blau syndrome is rare and evidence is lacking. Here, we describe in greater detail the clinical features, pathophysiology, diagnosis, management, and prognosis of Blau syndrome.
|Title of host publication||Auto-Inflammatory Syndromes|
|Subtitle of host publication||Pathophysiology, Diagnosis, and Management|
|Publisher||Springer International Publishing|
|Number of pages||7|
|State||Published - 1 Jan 2019|