To illustrate the diagnostic challenges and clinical features of autosomal-dominant hyperimmunoglobulin E syndrome (HIES) through a case report.
Key Findings:
The patient had a history of severe eczema, recurrent skin abscesses, otitis media, and skeletal abnormalities.
Laboratory tests showed extremely elevated serum immunoglobulin E levels and a confirmed heterozygous STAT3 variant.
The retroperitoneal abscess is an uncommon presentation of HIES, typically associated with skin and lung infections.
Interpretation:
The case highlights the importance of recognizing HIES in patients with recurrent infections and atopic features, even when presentations are atypical.
Limitations:
The diagnosis was delayed due to limited access to genetic testing.
Inflammatory markers may not accurately reflect the presence of infections in HIES patients.
Conclusion:
Pediatric clinicians should consider HIES in differential diagnoses for patients with recurrent staphylococcal infections and associated clinical features, regardless of age.
