Abstract：
We describe the case of a young 33-year-old woman that was referred to our clinic for evidence of migrant cavitary nodules at CT scan, dyspnea, and blood sputum. Her physical examination showed translucent and thin skin, evident venous vascular pattern, vermilion of the lip thin, micrognathia, thin nose, and occasional Raynaud phenomenon. We prescribed another CT scan that showed multiple pulmonary nodules in both lungs, some of which had evidence of cavitation. Because bronchoscopy was not diagnostic, we decided to perform surgical lung biopsy. At histologic examination, we found the presence of irregularly shaped, but mainly not dendritic, foci of ossification that often contained bone marrow and were embedded or surrounded by tendinous-like fibrous tissue. After incorporating data from the histologic examination, we decided to perform genetic counseling and genetic testing with the use of whole-exome sequencing. The genetic test revealed a heterozygous de novo missense mutation of COL3A1 gene, which encodes for type III collagen synthesis, and could cause vascular Ehlers-Danlos syndrome.
摘要：
我们描述了一名33岁的年轻妇女的情况，该妇女在CT扫描时被转诊到我们的诊所，以获取迁移的空洞结节的证据，呼吸困难,还有血痰.她的身体检查显示皮肤透明而薄，明显的静脉血管模式,嘴唇稀薄的朱红色，小颌畸形,瘦小的鼻子，和偶尔的雷诺现象。我们开了另一个CT扫描，显示双肺有多个肺结节，其中一些有气蚀的证据。因为支气管镜检查不能诊断，我们决定进行外科肺活检.在组织学检查中，我们发现不规则形状的存在，但主要不是树枝状的，骨化灶通常包含骨髓，并被腱样纤维组织包埋或包围。在纳入组织学检查的数据后，我们决定使用全外显子组测序进行遗传咨询和基因检测.基因检测揭示了COL3A1基因的杂合从头错义突变，编码III型胶原蛋白合成，并可能导致血管Ehlers-Danlos综合征.
