Cryopyrin-associated Periodic Syndrome: A Case Report and Review of the Japanese Literature

• Published in: Acta dermato-venereologica Vol. 92; no. 4; pp. 395 - 398
• Main Authors: AOYAMA, Kumi, AMANO, Hiroo, TAKAOKA, Yuki, NISHIKOMORI, Ryuta, ISHIKAWA, Osamu
• Format: Journal Article
• Language: English
• Published: Uppsala Acta dermato-venereologica 01.01.2012
• Subjects: Adolescent; Adult; Allergic diseases; Biological and medical sciences; Carrier Proteins - genetics; Child; Child, Preschool; Cryopyrin-Associated Periodic Syndromes - diagnosis; Cryopyrin-Associated Periodic Syndromes - genetics; Cryopyrin-Associated Periodic Syndromes - immunology; Cryopyrin-Associated Periodic Syndromes - pathology; Dermatology; DNA Mutational Analysis; Exanthema - genetics; Exanthema - immunology; Exanthema - pathology; Female; Genetic Predisposition to Disease; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Humans; Immunopathology; Infant; Infant, Newborn; Japan; Male; Medical sciences; Mutation; NLR Family, Pyrin Domain-Containing 3 Protein; Phenotype; Recurrence; Skin - immunology; Skin - pathology; Skin allergic diseases. Stinging insect allergies; Skin involvement in other diseases. Miscellaneous. General aspects; Asia; Japan; Human; Familial cold urticaria; Allergy; Immunopathology; Skin disease; cryopyrin-associated periodic syndrome; Dermatology; Diseases of the osteoarticular system; urticaria-like rash; Dermatitis; Genetic disease; Case study; Hereditary periodic fever; NLRP3; Bibliographic review
• ISSN: 0001-5555; 1651-2057
• DOI: 10.2340/00015555-1322

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, head-ache, 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.