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Cryopyrin‐Associated Periodic Syndrome
Author(s) -
Posch Christian,
Kaulfersch Wilhelm,
Rappersberger Klemens
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2012.01812.x
Subject(s) - medicine , differential diagnosis , disease , inflammation , pediatrics , clinical significance , dermatology , immunology , pathology
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.