Cryopyrin-associated periodic syndrome.
Cryopyrin-associated periodic syndromes (CAPS) are characterized by apparently unprovoked attacks of fever, rashes, and musculoskeletal and sensorineural inflammation accompanied by high acute-phase reactants. Excessive interleukin-1 (IL-1) signaling appears to be a constant feature in the pathomechanism of the disease, driven by a gain-of-function mutation in the NLRP3 gene. Herein, we present the case of a 9-month-old boy with recurrent nonpruritic rashes and episodes of fever. The difficulties of early diagnosis due to initially mild clinical symptoms and the dramatic response to anti-IL-1 therapy after diagnosis emphasize the practical relevance of considering CAPS as a differential diagnosis in these patients.
Department of Dermatology and Venereology, Rudolfstiftung Hospital, Vienna, AustriaDepartment of Pediatrics and Adolescent Medicine, General Hospital of Klagenfurt, Klagenfurt, Austria.
Christian
C
Posch
Wilhelm
W
Kaulfersch
Klemens
K
Rappersberger
D018501:Antirheumatic Agents / Q000627:therapeutic use; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D008297:Male
D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein