Sterile multifocal osteomyelitis with periostitis and pustulosis
Engelsk navn: Sterile multifocal osteomyelitis with periostitis and pustulosis
Engelske synonym: Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency,DIRA,Interleukin-1 receptor antagonist deficiency,OMPP
Definisjon
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.
Fra Orphanet
ORPHA: 210115
Klassifiseringsnivå: Disorder
ICD-10: D84.8
