Official websites use. Share sensitive information only on official, secure websites. Address for correspondence and reprints: Dr. E-mail: catherine. These rare autosomal dominant diseases are both characterized by recurrent inflammatory crises that start in childhood and that are generally associated with fever, arthralgia, and urticaria. The presence of sensorineural deafness that occurs later in life is characteristic of MWS.
In FCU, cold exposure is the triggering factor of the inflammatory crisis. The finding of the GR mutation in an asymptomatic individual further emphasizes the importance of such modifier a gene or genes in determining the disease phenotype.
Identification of this gene or these genes is likely to have significant therapeutic implications for these severe diseases. The first clinical signs occur during childhood and generally include fever, joint inflammation, myalgias, urticaria, and conjunctivitis Kile and Rusk ; Muckle and Wells In MWS, a progressive sensorineural deafness occurs later in life, and a renal amyloidosis of the amyloidosis associated AA type can sometimes be observed Messier et al.
In contrast, FCU is defined by a highly specific clinical feature: the effect of cold on the skin, which triggers the general symptoms of inflammatory crises Hoffman et al.
Recently, Hoffman et al. Pedigrees are shown in figure 1. Each participant was examined and provided informed written consent. Studies of some members of these families have been published elsewhere. Patients presented characteristic clinical signs, such as urticaria, arthralgia, arthritis, fever, ocular signs, and AA amyloidosis.
