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Year : 2020  |  Volume : 21  |  Issue : 2  |  Page : 153-155

Blau syndrome: A case report of a rare granulomatous disorder

Department of Dermatology, Armed Forces Medical College, Pune, Maharashtra, India

Correspondence Address:
Preema Sinha
Department of Dermatology, Armed Forces Medical College, Pune - 411 040, Maharastra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_23_19

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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.

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