Abstract
BackgroundVascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-α1 chain of type III procollagen encoded by the COL3A1 gene. Patients with vEDS rarely present with multiple pneumothoraces. The clinical features of this disease are not familiar to clinicians and are easily missed. We report a patient with a novel missense mutation in the COL3A1 gene (NM_000090.3: c.2977G > A) and hope to provide clinicians with valuable information.Case presentationWe reported the case of a young man presenting with frequent episodes of pneumothorax and intrapulmonary cavities and nodular lesions without arterial or visceral complications. His skin was thin and transparent, and the joints were slightly hypermobile. Whole-exome sequencing (chip capture high-throughput sequencing) revealed a heterozygous missense mutation in exon 41 of the COL3A1 gene (NM_000090.3: c.2977G > A), confirming the diagnosis of vEDS. vEDS remains a very rare and difficult diagnosis to determine.ConclusionWhen a patient presents with recurrent pneumothorax, intrapulmonary cavities and nodular lesions, thin and transparent skin, and hypermobile joints, clinicians should consider the diagnosis of vEDS.
Highlights
Vascular Ehlers-Danlos syndrome is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-α1 chain of type III procollagen encoded by the COL3A1 gene
When a patient presents with recurrent pneumothorax, intrapulmonary cavities and nodular lesions, thin and transparent skin, and hypermobile joints, clinicians should consider the diagnosis of Vascular Ehlers-Danlos syndrome (vEDS)
We present a rare case of vEDS that manifested as recurrent pneumothorax and pulmonary lesions
Summary
When a patient presents with recurrent pneumothorax, intrapulmonary cavities and nodular lesions, thin and transparent skin, and hypermobile joints, clinicians should consider the diagnosis of vEDS.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.