Intern Med. 2026 May 16. doi: 10.2169/internalmedicine.7307-26. Online ahead of print.
ABSTRACT
Vascular Ehlers-Danlos syndrome (vEDS), a rare connective tissue disorder caused by pathogenic COL3A1 variants, rarely presents with isolated pulmonary manifestations in asymptomatic cases. We herein report the case of a 36-year-old asymptomatic man with incidentally discovered fluctuating pulmonary nodules and cavitary lesions. A histopathological examination revealed nodular fibrosis and focal pulmonary ossification, indicating a disruption of the pulmonary architecture and pulmonary hemosiderosis. Genetic testing revealed a novel COL3A1 frameshift variant, confirming that the attenuated vEDS phenotype is attributable to haploinsufficiency. This case report highlights the diagnostic significance of asymptomatic pulmonary diseases.
PMID:42144331 | DOI:10.2169/internalmedicine.7307-26