Cryopyrin-associated Periodic Syndrome: A Case Report and Review of the Japanese Literature
Kumi Aoyama, Hiroo Amano, Yuki Takaoka, Ryuta Nishikomori, Osamu Ishikawa
Cryopyrin-associated periodic syndrome is an autoinflammatory syndrome caused by mutations of the CIAS1 gene (currently named NLRP3), and is characterized by periodic attacks of an urticaria-like rash, fever, headache, conjunctivitis and arthralgia. We report here a case of a 1-year-old boy with cryopyrin-associated periodic syndrome, which manifested as a recurrent skin rash in the postnatal period. Genetic analysis revealed a missense mutation of the CIAS1 gene in the mother and infant.