Acute pulmonary manifestation of type IV Ehlers-Danlos syndrome in a 19-year-old patient with hemoptysis

Abstract

Ehlers-Danlos syndrome type IV is a rare inherited autosomal dominant disease, caused by a defect or deficiency of type III collagen encoded by the COL3A1 gene. This disorder confers an anomalous fragility of blood vessels, uterus, hollow viscera, skin and lung. We describe a case and the pulmonary changes of a 19-year-old male with Ehlers-Danlos syndrome type IV presenting abundant hemoptysis.