Park Min A, Shin So Youn, Kim Young Jin, Park Myung Jae, Lee Seung Hyeun
Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Kyung Hee University School of Medicine Department of Radiology, Kyung Hee University Hospital, College of Medicine, Kyung Hee University Department of Laboratory Medicine, Kyung Hee University School of Medicine, Seoul, Republic of Korea.
Medicine (Baltimore). 2017 Nov;96(47):e8853. doi: 10.1097/MD.0000000000008853.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS.
We report a case of an 18-year-old high school student, with a past history of cryptorchidism, presenting with recurrent pneumothorax.
Routine laboratory findings were unremarkable. Chest high resolution computed tomographic scan showed age-unmatched hyperinflation of both lungs, atypical cystic changes and multifocal ground glass opacities scattered in both lower lobes. His slender body shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion of a possible connective tissue disorder.
The histological examination of the lung lesions showed excessive capillary proliferation in the pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site mutation confirming his diagnosis as vEDS.
Although his diagnosis vEDS is notorious for fatal vascular complication, there was no evidence of such complication at presentation. Fortunately, he has been followed up for 10 months without pulmonary or vascular complications.
To the best of our knowledge, both cryptorchidism and PCH-like foci have never been reported yet as complications of vEDS, suggesting our case might be a new variant of this condition. This case emphasizes the importance of comprehensive physical examination and history-taking, and the clinical suspicion of a possible connective tissue disorder when we encounter cases with atypical presentation and/or unique chest radiologic findings especially in young patients.
血管型埃勒斯-当洛综合征（vEDS）是一种罕见的常染色体显性遗传性胶原蛋白疾病，由COL3A1编码的III型前胶原α1链的缺陷或缺乏引起。vEDS不仅表现为软组织症状，包括皮肤过度伸展和关节活动过度，还因动脉或重要器官破裂导致早期死亡。虽然肺部并发症并不常见，但已有vEDS病例并发气胸、血胸或肺内血肿的报道。当患者最初仅表现为肺部并发症时，临床医生很难怀疑vEDS。
我们报告一例18岁高中生病例，既往有隐睾病史，现反复出现气胸。
常规实验室检查结果无异常。胸部高分辨率计算机断层扫描显示双肺过度充气，年龄不符，伴有非典型囊性改变和散在双下叶的多灶性磨玻璃影。他身材纤细、关节过度灵活、皮肤过度伸展，提示可能存在结缔组织疾病。
肺病变的组织学检查显示肺间质和胸膜毛细血管过度增生，诊断为类肺毛细血管血管瘤病（PCH）灶。基因研究发现COL3A1基因剪接位点突变，确诊为vEDS。
虽然他被诊断为vEDS，以致命的血管并发症而闻名，但就诊时没有此类并发症的证据。幸运的是，他已随访10个月，无肺部或血管并发症。
据我们所知，隐睾和类PCH灶从未被报道为vEDS的并发症，提示我们的病例可能是这种疾病的一种新变体。该病例强调了全面体格检查和病史采集的重要性，以及当我们遇到非典型表现和/或独特胸部影像学表现的病例时，尤其是年轻患者，对可能的结缔组织疾病进行临床怀疑的重要性。
