Recurrent pneumothorax in a young man with vascular Ehlers Danlos syndrome

What is it about?

This report outlines the presentation of a young man with recurrent pneumothorax and cavitary lung lesions who was diagnosed with vascular Ehlers Danlos syndrome, a rare disease with high mortality. This case also highlights the discovery of a novel mutation responsible for the disease. The authors also review current diagnostic and management challenges.

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Why is it important?

Vascular Ehlers Danlos syndrome is rare but catastrophic due to high rates of organ and vascular rupture. Early recognition can lead to lifestyle, pharmacological, and surgical interventions. Further research is needed to address the diagnostic and management challenges in this disease that preferentially impacts people from a young age.