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Bullous Emphysema as First Presentation of Ehlers-Danlos Syndrome in Monozygotic Twins

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source: Respiratory Medicine Case Reports

year: 2014

authors: Ruggeri P, Calcaterra S, Girbino G


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.

organization: Policlinico Universitario G.Martino Messina

DOI: 10.1016/j.rmcr.2014.12.002

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