title: Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.
abstract: Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. MWS is characterized by a moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, and potentially life-threatening amyloidosis. 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.
authors.affiliation: Department of Dermatology, Hospital Universitario Fundación Alcorcón, Madrid, Spain. enaz@fhalcorcon.es.
authors.forename: Elena
authors.initials: E
authors.lastname: Naz Villalba
authors.affiliation: Department of Dermatology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: Enrique
authors.initials: E
authors.lastname: Gomez de la Fuente
authors.affiliation: Department of Dermatology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: Dolores
authors.initials: D
authors.lastname: Caro Gutierrez
authors.affiliation: Department of Pathology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Pinedo Moraleda
authors.affiliation: Department of Ophthalmology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: Yanguela Rodilla
authors.affiliation: Department of Pediatric Neurology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: Diana
authors.initials: D
authors.lastname: Mazagatos Angulo
authors.affiliation: Department of Dermatology, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: López Estebaranz
mesh_terms: D002675:Child, Preschool; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein / Q000235:genetics*
chemical_list: D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human