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

We report a 5‐year‐old girl with MWS that manifested as a recurrent skin rash without fever episodes or intracranial hypertension with papilledema. Genetic analysis revealed a T348M mutation of the NLRPR 3 gene in the patient and her mother. She was successfully treated with the interleukin‐1β antagonist receptor anakinra.

Source: Pediatric Dermatology - June 30, 2016 Category: Dermatology Authors: Elena Naz Villalba, Enrique Gomez de la Fuente, Dolores Caro Gutierrez, Fernando Pinedo Moraleda, Julio Yanguela Rodilla, Diana Mazagatos Angulo, Jose Luis L ópez Estebaranz Tags: Case Report Source Type: research