• Sun Junping, Sun Tianyu, Wang Rentao, Li Shengshu, Han Xiaobo, Zhang Xinxin, and Zhang Mingyue.
• Department of Respiratory and Critical Care Medicine, Chinese PLA General Hospital, Beijing, China.
• Medicine (Baltimore). 2023 Oct 6; 102 (40): e35436e35436.

RationalePrimary spontaneous pneumothorax (PSP) is a manifestation of Vascular Ehlers-Danlos syndrome (vEDS) caused by heterozygous mutations in the COL3A1 gene. vEDS is a rare inherited disorder with an prevalence of one in 150,000. It can causes PSP and severe fragility of connective tissues with arterial but it remains poorly defined on clinical grounds and diagnose. Through this report, we hoped to help clinicians further understand the characteristics of vEDS.Patient ConcernsA 22-year-old man presented with recurrent pneumothorax, hemoptysis, and chest pain. Physical examination revealed remarkable hypermobility of the small joints and translucent skin with visible veins. Chest computed tomography (CT) showed pneumothorax and multiple pulmonary cavities.Intervention And OutcomeGenomic deoxyribonucleic acid (DNA) was extracted from patients. Heterozygosity was observed in all 3 novel variants. The main variant is COL3A1, c.3256-43T > G(NM_000090.3), which represents a missense mutation in collagen type III alpha 1 that can lead to vEDS. The other 2 mutations were FLNB c.4814G > A(NM_001457.3) and TSC2 c.3145G > A (NM_000548.3). These variants were validated by Sanger sequencing of their parents. COL3A1was not detected in either of the parent strains. FLNB and TSC2 were detected in his mother.DiagnosesVascular Ehlers-Danlos syndrome.LessonsBoth COL3A1 and TSC2 gene mutations can cause PSP; however, to the best of our knowledge, there are no reports on these 2 gene mutations in 1 patient at the same time.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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