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Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins

Overview of attention for article published in Respiratory Medicine Case Reports, December 2014
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Title
Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins
Published in
Respiratory Medicine Case Reports, December 2014
DOI 10.1016/j.rmcr.2014.12.002
Pubmed ID
Authors

Paolo Ruggeri, Salvatore Calcaterra, Giuseppe Girbino

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.

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Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 33%
Lecturer > Senior Lecturer 1 11%
Other 1 11%
Professor 1 11%
Student > Doctoral Student 1 11%
Other 2 22%
Readers by discipline Count As %
Medicine and Dentistry 5 56%
Biochemistry, Genetics and Molecular Biology 2 22%
Nursing and Health Professions 1 11%
Unknown 1 11%