Open AccessEhlers–Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report
Author(s) -
Kim Min Jee,
Choe Jooae,
Lee Beom Hee,
Song Jin Woo
Publication year - 2021
Publication title -
respirology case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.304
H-Index - 9
ISSN - 2051-3380
DOI - 10.1002/rcr2.747
Subject(s) - medicine , pneumothorax , ehlers–danlos syndrome , pleurodesis , wedge resection , lung , differential diagnosis , family history , ground glass opacity , radiology , surgery , pathology , resection , adenocarcinoma , cancer
A 19‐year‐old male patient was referred to our hospital for recurrent pneumothorax. He previously experienced seven episodes of pneumothorax refractory to conventional treatment including pleurodesis and wedge resection. On admission, chest computed tomography scan showed multiple cystic lesions with surrounding ground‐glass opacities and several nodules in both lungs. Detailed history revealed that the patient experienced haemoptysis whenever pneumothorax developed and had a family history of sudden death. Physical examination showed large eyes with conjunctival injection, hypermobile joints, and hyper‐extensive and easily bruised skin. All these findings led to the suspicion of vascular Ehlers–Danlos syndrome (EDS). Genetic testing for the diagnosis of vascular EDS was performed and a heterozygous mutation in COL3A1 gene, c.1662+1G>A (IVS23(+1) G>A), was confirmed. Clinicians should consider vascular EDS as the differential diagnosis of cystic lung disease with recurrent pneumothorax.