Objective:

To illustrate the diagnostic challenges and clinical features of autosomal-dominant hyperimmunoglobulin E syndrome (HIES) through a case report.

Approach:

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.

Sources:

• Clinical Case Reports
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