Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints.

[3] Symptoms usually begin before the age of four, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis.

[5][6] The diagnosis of Blau syndrome is made by the presentation of classical clinical features and can be confirmed by genetic testing and biopsy.

In 1982, Rotenstein reported a family with granulomatous arteritis, rash, iritis, and arthritis transmitted as an autosomal dominant trait over three generations.

[9] In 1985, Edward Blau, a pediatrician in Marshfield, Wisconsin, reported a family that over four generations had granulomatous inflammation of the skin, eyes and joints.

A marker, D16S298, gave a maximum logarithm of odds score of 3.75 and put the Blau syndrome susceptibility locus within the 16p12-q21 interval.