Title |
Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins
|
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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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 50% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 9 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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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 % |
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Medicine and Dentistry | 5 | 56% |
Biochemistry, Genetics and Molecular Biology | 2 | 22% |
Nursing and Health Professions | 1 | 11% |
Unknown | 1 | 11% |