Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians.

ABSTRACT: Deficiency of interleukin-1 receptor antagonist is a rare autoinflammatory disease that affects infants early in life. It often presents with systemic inflammation, skin and bone involvement. We present a 5-month-old boy who was hospitalized due to generalized erythematous pustular eruption with secondary impetigo, cellulitis, bronchiolitis, and elevated inflammatory markers. The patient was unresponsive to multiple courses of intravenous antibiotics, systemic, and topical steroid medications. The patient was evaluated by dermatology and rheumatology services among other subspecialities. Skin biopsy showed changes consistent with psoriasiform dermatitis, while bone scans showed multifocal osteomyelitis. The patient was started empirically on anakinra with improvement at 72 hours upon admin

SUBMITTER: Rivera-Sepulveda A 

PROVIDER: S-EPMC10421680 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature