ArticleJournal of the Korean Society of Radiology2025
Chest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report.
Article in Journal of the Korean Society of Radiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Vascular Ehlers-Danlos syndrome (EDS) is a rare genetic connective tissue disorder caused by abnormalities in extracellular matrix components, such as collagen. Among the six subtypes of EDS, type IV is known to have the worst prognosis. However, owing to its low prevalence (approximately 4%), diagnosis is often delayed, leading to fatal complications such as bleeding. We report a case of an 18-year-old male who presented with hemoptysis. CT revealed cavitary nodules and signs of bleeding. A biopsy was attempted, during which the bleeding tendency of the patient was noted, and a rapidly progressing pneumothorax developed in both lungs. This led us to suspect a diagnosis of type IV EDS. This case highlights the importance of considering type IV EDS as a differential diagnosis in patients with cavitary nodules and ground-glass opacities on imaging, especially in the presence of increasing pneumothorax and a tendency to bleed.
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