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.

journal_name

An Bras Dermatol

authors

Pereira AF,Pereira LB,Vale EC,Tanure LA

doi

10.1590/s0365-05962010000600022

subject

Has Abstract

pub_date

2010-11-01 00:00:00

pages

907-11

issue

6

eissn

0365-0596

issn

1806-4841

pii

S0365-05962010000600022

journal_volume

85

pub_type

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