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A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome

Blau syndrome (MIM #186580) is characterized by the clinical triad of skin rash, granulomatous polyarthritis and panuveitis, and was first reported in 1985 in a large four-generation family. Mutations in the NOD2 gene were identified in Blau syndrome in 2001. In addition, in < 0.5% of sarcoidosis cases, symptoms appear in children < 4 years of age, in a distinct triad of skin, joint and eye disorders without apparent pulmonary involvement, very similar to Blau syndrome. Because this form of sarcoidosis may differ from ordinary sarcoidosis, it was given the name ‘early-onset sarcoidosis’ (EOS). NOD2 mutations