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Ruggeri P, Calcaterra S, Girbino G. Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins. Respir Med Case Rep. 2014;14:40-2doi: 10.1016/j.rmcr.2014.12.002.
Ruggeri, P., Calcaterra, S., & Girbino, G. (2015). Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins. Respiratory medicine case reports, 1440-2. https://doi.org/10.1016/j.rmcr.2014.12.002
Ruggeri, Paolo, et al. "Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins." Respiratory medicine case reports vol. 14 (2015): 40-2. doi: https://doi.org/10.1016/j.rmcr.2014.12.002
Ruggeri P, Calcaterra S, Girbino G. Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins. Respir Med Case Rep. 2014 Dec 24;14:40-2. doi: 10.1016/j.rmcr.2014.12.002. eCollection 2015. PMID: 26029576; PMCID: PMC4356030.
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Respir Med Case Rep. 2014 Dec 24;14:40-2. doi: 10.1016/j.rmcr.2014.12.002. eCollection 2015.

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

Respiratory medicine case reports

Paolo Ruggeri, Salvatore Calcaterra, Giuseppe Girbino

Affiliations

  1. Department of Experimental Medicine and Surgery with Odontostomatology, Respiratory Unit, Policlinico Universitario "G.Martino", Messina, Italy.

PMID: 26029576 PMCID: PMC4356030 DOI: 10.1016/j.rmcr.2014.12.002

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.

Keywords: Bullous emphysema; Ehlers-Danlos syndrome; Hemoptysis; Monozygotic twins

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