Recurrent Urticaria: A Rare Cryopyrin-Associated Periodic Syndrome - Muckle-Wells Syndrome.

Abstract

Introduction: Muckle-Wells syndrome (MWS) is a rare cryopyrin-associated periodic syndrome (CAPS), an autoinflammatory disorder due to a loss of function mutation in the NACHT domain of the NLRP3 gene. The loss of cryopyrin activity brought on by this deficiency eventually causes dysregulated inflammation and increased release of the proinflammatory cytokine interleukin (IL)-1 beta. It has an autosomal dominant inheritance.

Case presentation: We present here an 8-year-old girl with recurrent fever, recurrent urticarial rash, sensorineural hearing loss, raised inflammatory markers and serum amyloid levels, which did not respond to the anti-histaminic drugs, was wrongly diagnosed as tuberculosis, which on further genetic evaluation was diagnosed as MWS.

Conclusion: Despite being uncommon, treating clinicians should take MWS into consideration given the specific clinical presentation. With the availability of appropriate medications, future complications can be prevented, and the prognosis is better.