Blau syndrome

The Blau syndrome (English: Blue 's syndrome, arthrocutaneouveal granulomatosis, granulomatous periorificial dermatitis, facial Afro- caribbean childhood eruption FACE) is a relatively rare genetic disease. Sufferers have a nodular ( papular ) skin rash, sometimes also cause inflammation of the choroid of the eye and joint inflammation. Can be found in the histological examination of the skin granulomatous chronic inflammation, which is very similar to that of sarcoidosis. In contrast to this condition, the lungs are usually not involved in the Blue syndrome.

The disease has a simple, autosomal dominant inheritance. It can be found mutations in the NOD2 gene that encodes the NOD2 receptor. In most cases the disease requires a lengthy intensive therapy.

Edward B. Blau, director of a pediatric clinic in Marshfield, Wisconsin, described the syndrome in November of 1985 on the basis of a family with eleven affected members over four generations. In May of the same year another family was described with three family members of Douglas A. Jabs.