Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident.
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.
Madan
V
V
Dermatology Centre, Salford Royal NHS Foundation Trust, Manchester, UK. vishalmadan@doctors.org.uk
Kingston
H
H
Jamieson
L A
LA
Goyal
N
N
Ead
R
R
D000328:Adult; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis* / Q000188:drug therapy; D005260:Female; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000188:drug therapy; D020521:Stroke / Q000175:diagnosis* / Q000188:drug therapy
D053590:Interleukin 1 Receptor Antagonist Protein