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.
CITATION STYLE
Ruggeri, P., Calcaterra, S., & Girbino, G. (2015). Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins. Respiratory Medicine Case Reports, 14, 40–42. https://doi.org/10.1016/j.rmcr.2014.12.002
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