Large mediastinal mass in a 15-year-old boy

Area of Science:

• Immunology
• Genetics
• Infectious Diseases

Background:

• Hyperimmunoglobulin E syndrome (HIES) is a rare multisystem inherited disorder.
• It is characterized by elevated serum IgE, eczema, recurrent staphylococcal and sinopulmonary infections, and skeletal abnormalities.

Observation:

• HIES commonly presents with skin and sinopulmonary infections.
• Other described features include characteristic facial features, joint hyperextensibility, bone fractures, and craniosynostosis.

Findings:

• This report details a rare presentation of HIES.
• The patient exhibited invasive aspergillosis manifesting as a mediastinal mass with extension into mediastinal structures and pulmonary vasculature.

Implications:

• This case expands the spectrum of known HIES manifestations.
• Recognizing unusual presentations is crucial for timely diagnosis and management of HIES.
• Highlights the importance of considering fungal infections in HIES patients with mediastinal masses.