| Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) |
| Sterile multifocal osteomyelitis with periostitis and pustulosis |
| Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
OMPP - sterile osteomyelitis, multifocal with periostitis and pustulosis
Interleukin-1 receptor antagonist deficiency
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| 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. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
| steriele multifocale osteomyelitis met periostitis en pustulose |
| OMPP
auto-inflammatoire aandoening door interleukine-1-receptorantagonistdeficiëntie
interleukine-1-receptorantagonistdeficiëntie
|
