NEONATAL URTICARIA-LIKE RASH AND MULTISYSTEMIC INFLAMMATORY DISEASE

Key words: Urticarial rash, Fever, Arthropaty, Neurological involvement, CINCA syndrome

We describe two unrelated children with neonatal onset of urticarial skin rash and subsequent development of a chronic multisystemic inflammatory syndrome, characterized by fever episodes, deforming arthropaty, central-nervous-system involvement, sensorineural hearing loss (chronic, infantile, neurologic, cutaneous and articular syndrome or CINCA syndrome). In both children typical facies with frontal bossing and saddle back nose was observed. We describe the molecular basis (CIAS1/cryopyrin mutations) and the pathogenetic hypothesis of CINCA. Therapy with IL-1ß-receptor blockade (anakinra) was successful in both cases.