title: Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins.
abstract: Ehlers-Danlos syndrome, characterized by hyperextensible skin, hypermobile joints, and fragile vessels, is the most common heritable disorder of connective tissue and has an estimated prevalence of 1 in 5000. Pulmonary involvement with signs of lung destruction (bullous emphysema) as first presentation is unusual. We report a case of monozygotic twins 37 years old men with occasional evidence of bullous emphysema with previously undiagnosed Ehlers-Danlos syndrome type IV. We emphasize the importance of considering uncommon genetic causes of emphysema in young adults, discuss underlining pathophysiological mechanisms and propose a conservative management and follow-up.
authors.affiliation: Department of Experimental Medicine and Surgery with Odontostomatology, Respiratory Unit, Policlinico Universitario "G.Martino", Messina, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Ruggeri
authors.affiliation: Department of Experimental Medicine and Surgery with Odontostomatology, Respiratory Unit, Policlinico Universitario "G.Martino", Messina, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Calcaterra
authors.affiliation: Department of Experimental Medicine and Surgery with Odontostomatology, Respiratory Unit, Policlinico Universitario "G.Martino", Messina, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Girbino
keywords: Bullous emphysema; Ehlers-Danlos syndrome; Hemoptysis; Monozygotic twins