CINCA syndrome

CINCA syndrome is a multisystem disorder and the most severe form of cryopyrin-associated periodic syndrome (CAPS).

It is characterized by the postnatal formation of a non-itching, urticarial, persistent rash. In the course of the disease, recurrent episodes with symptoms, high fever, lymphadenopathy, hepato- and splenomegaly occur.

In most cases, the central nervous system is also affected. This is characterized by headaches, seizures, mental retardation and aseptic meningitis. Some patients develope sensory deafness and papillary, followed by loss of vision. The clinical expression of the disease varies considerably. 

An autosomal dominant mutation of CIAS1 gene is the cause of the syndrome.