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Blau syndrome: A case report of a rare granulomatous disorder

Blau syndrome is a rare condition characterized by the triad of granulomatous skin lesions, symmetric polyarthritis with boggy joint swellings, and ocular inflammation. It has an autosomal dominant mode of inheritance and occurs due to a mutation in CARD-15/NOD-2 gene which encodes the cytosolic NOD2 protein, a key molecule in the regulation of innate immunity. Clinical onset is generally in the 1st year of life and is characterized by articular, cutaneous, and ocular noncaseating granulomatous inflammation, which can be variably associated with a heterogeneous systemic spectrum. Here, we describe one such rare case.