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Neonatal urticaria: Could it be CAPS ?
Author(s) -
Cutts Louise,
Parslew Richard,
Eustace Karen
Publication year - 2018
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/pde.13660
Subject(s) - medicine , anakinra , rash , inflammation , phenotype , somatic cell , mutation , immunology , dermatology , gene , genetics , disease , biology
Abstract A neonatal boy presented with a persistent urticarial rash. Initial investigations showed raised inflammatory markers and evidence of systemic inflammation. A working diagnosis of cryopyrin‐associated periodic syndrome ( CAPS ) was made, and the patient responded extremely well to Anakinra. Molecular genetic testing revealed a somatic mutation (affecting 12.5% of cells) in the NLRP 3 gene, accounting for the persistent inflammatory state but milder phenotype as seen in our patient.