UOC Pneumologia, Center For Respiratory Diseases, Fondazione Policlinico A. Gemelli IRCCS, Roma, Italy; Università Cattolica del Sacro Cuore, Roma, Italy.
Università Cattolica del Sacro Cuore, Roma, Italy.
Chest. 2024 May;165(5):e133-e136. doi: 10.1016/j.chest.2024.01.016.
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.
我们描述了一位 33 岁年轻女性的病例，她因 CT 扫描显示移行性空洞性结节、呼吸困难和血痰而被转介到我们的诊所。她的体格检查显示透明而薄的皮肤，明显的静脉血管模式，唇红薄，小颌畸形，鼻子薄，偶尔出现雷诺现象。我们开了另一个 CT 扫描，显示双肺多个肺结节，其中一些有空洞形成的证据。由于支气管镜检查没有诊断意义，我们决定进行手术肺活检。组织学检查发现存在不规则形状但主要不是树突状的骨化灶，这些骨化灶通常含有骨髓，并嵌入或被腱样纤维组织包围。结合组织学检查结果，我们决定进行遗传咨询和全外显子测序的基因检测。基因检测显示 COL3A1 基因的杂合性新生错义突变，该基因突变可导致血管性 Ehlers-Danlos 综合征。
