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Muckle–Wells syndrome/neonatal‐onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident
Author(s) -
Madan V.,
Kingston H.,
Jamieson L. A.,
Goyal N.,
Ead R.
Publication year - 2010
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2010.03817.x
Subject(s) - anakinra , medicine , rash , nalp3 , disease , dermatology , pediatrics , inflammation , inflammasome
Summary We describe a patient with overlapping clinical features of Muckle–Wells syndrome and neonatal‐onset multisystem inflammatory disease with an absence of mutation in exon 3 of the CIAS1/PYPAF1/NALP3 gene. Myelodysplasia and cerebrovascular accident were additional features in this patient, which to our knowledge have not been previously described in association with these disorders. The urticarial rash, myelodysplasia and raised inflammatory markers responded to treatment with the interleukin‐1 receptor antagonist, anakinra.