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 administration. This is one of the youngest reported
case in the literature to be started on anakinra empirically prior to genetic confirmation
of the mutation. A comprehensive literature review revealed that approximately 20
genetically confirmed patients, including our patient, have been reported with this
genetic disease. It is imperative to recognize this disease early to achieve adequate
response and remission. Therefore, clinical symptoms and the associated differential
diagnosis for this disease should be constantly reassessed and reviewed by pediatricians
and subspecialists to detect the disease as early as possible and reduce the high
morbidity and mortality associated with delayed diagnosis and treatment.
Keywords
deficiency of interleukin-1 receptor antagonist - autoinflammatory disease - pediatrics
