Contents
DIRA: "Deficiency of the interleukin-1 receptor antagonist"
Sterile multifocal osteomyelitis with periostitis and pustulosis
Definition
DIRA is counted to them periodic fever syndromes / autoinflammatory diseases
Symptoms
DIRA characterized by disease onset in neonatal (newborn) age and with sterile multifocal osteomyelitis, peri-ostitis and neutrophil pustulosis (Unlike cryopyrin-associated periodic syndromes, CAPS). Subsequent disease onset of gene mutation is also described (reference: Ulusoy E, 2015)
- Periarticular swelling caused by epiphyseal overgrowth, oral mucosal lesions and vasculitis
- Not particularly fever
Blood tests
- Marked elevated blood lowering reaction (SR) and CRP
Diagnosis
- Genetic test for mutations of IL1RN
Differential Diagnoses
- Infantile pustulosis (neonatal onset pustulosis)
- Infantile pustular psoriasis
- SAPHO (Synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome
Treatment
- DMARDs, anakinra
Medical prognosis
- Serious disease that can lead to multiple organ failure and death
Literature
Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)
This page has had 1 visits today