Muckle–Wells Syndrome: A Case Report with an NLRP3 T348M Mutation

• DOI: 10.1111/pde.12905
• Publication Date: 2016-07-20T01:27:30Z
• Authors: Elena Naz Villalba; Enrique Gomez de ...; Dolores Caro Guti...; Fernando Pinedo M...; Julio Yanguela Ro...; Diana Mazagatos A...; Jose Luis López E...
• Keywords: Generalized pustular psoriasis

Abstract Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins the innate immune system. Cryopyrin‐associated periodic autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle–Wells syndrome ( MWS ), and neonatal‐onset multisystem inflammatory disease. is characterized moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, potentially life‐threatening amyloidosis. We report 5‐year‐old girl manifested as recurrent skin rash without fever episodes or intracranial hypertension papilledema. Genetic analysis revealed T348M mutation NLRPR 3 gene patient her mother. She was successfully treated interleukin‐1β antagonist receptor anakinra.