Four cases of Muckle-Wells syndrome within the same family

An Bras Dermatol. 2010 Nov-Dec;85(6):907-11. doi: 10.1590/s0365-05962010000600022.
[Article in English, Portuguese]

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Cryopyrin-Associated Periodic Syndromes / genetics
  • Cryopyrin-Associated Periodic Syndromes / pathology*
  • Female
  • Fluorescent Antibody Technique, Direct
  • Humans
  • Male
  • Skin / pathology*
  • Young Adult