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To present a case of asymptomatic pulmonary involvement in a patient with vascular Ehlers-Danlos syndrome caused by a novel COL3A1 variant.

May 18, 2026Internal MedicineOpen Access

Asymptomatic Pulmonary Involvement as the Initial Presentation of Vascular Ehlers-Danlos Syndrome with a Novel COL3A1 Frameshift Variant: A Case Report

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To present a case of asymptomatic pulmonary involvement in a patient with vascular Ehlers-Danlos syndrome caused by a novel COL3A1 variant.
Case report of a 36-year-old man with incidentally discovered pulmonary nodules and cavitary lesions.
Histopathological examination and genetic testing were performed to confirm the diagnosis.
Evaluation of pulmonary architecture disruption and hemosiderosis.
Histopathological examination revealed nodular fibrosis and focal pulmonary ossification.
Genetic testing identified a novel COL3A1 frameshift variant linked to the attenuated vEDS phenotype.
The case emphasizes the need to consider pulmonary assessments in asymptomatic individuals.

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Case report reveals pulmonary nodules in an asymptomatic man with vascular Ehlers-Danlos syndrome, suggesting unique clinical presentation.

Nogawa et al. (2026) studied this question.

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Case report reveals pulmonary nodules in an asymptomatic man with vascular Ehlers-Danlos syndrome, suggesting unique clinical presentation.