title: Four cases of Muckle-Wells syndrome within the same family.
abstract: Muckle-Wells syndrome is a rare autosomal dominant disease that belongs to a group of hereditary febrile syndromes. It is characterized by recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis since childhood, which are related to exposure to cold temperatures. Lately, progressive sensorineural hearing loss occurs. Amyloidosis is the main complication and can be found in about 25% of the cases. It has been demonstrated that there is an association with mutations in the NLRP3 gene, which codifies cryopyrin, a protein responsible for regulating the production of proinflammatory cytokines, such as interleukin-1Beta. The authors report four cases of the disease within a family.
authors.affiliation: Dermatological Service, University Hospital of the Federal University of Minas Gerais, Belo Horizonte, MG, Brasil. anafranciscajunqueira@hotmail.com
authors.forename: Ana Francisca Junqueira Ribeiro
authors.initials: AF
authors.lastname: Pereira
authors.forename: Luciana Baptista
authors.initials: LB
authors.lastname: Pereira
authors.forename: Everton Carlos Siviero do
authors.initials: EC
authors.lastname: Vale
authors.forename: Leandro Augusto
authors.initials: LA
authors.lastname: Tanure
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D056587:Cryopyrin-Associated Periodic Syndromes / Q000235:genetics / Q000473:pathology*; D005260:Female; D019085:Fluorescent Antibody Technique, Direct; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology*; D055815:Young Adult