Familial cold autoinflammatory syndrome

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Disease Overview

Familial cold autoinflammatory syndrome is a type of periodic fever syndrome. Signs and symptoms may include include an itchy or burning rash; fever; and joint pain which are triggered by exposure to cold temperatures. It is inherited in an autosomal dominant manner and can be caused by mutations in the NLRP3 or NLRP12 genes. Management of this condition involves avoiding exposure to cold temperatures and treatment with specific types of medications.[480][6297]


Synonyms

  • FCAS
  • Familial polymorphous cold eruption
  • Familial cold urticaria

For more information, visit GARD.

National Organization for Rare Disorders