대한흉부영상의학회 Weekly Chest Cases

Case No : 1319 Date 2023-01-30

Courtesy of Na Young Kim, Su Ji Lee, Hye-Jeong Lee / Severance Hospital
Age/Sex 31 / M
Chief Complaintchest pain

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Diagnosis With Brief Discussion

Diagnosis: Ehlers-Danlos syndrome, vascular type
Radiologic Findings: Fig 1. Chest PA shows multifocal streaky opacities with surgical clips in both lungs fields, suggesting multiple bullectomy scars.
Fig 2. CT scan reveals multiple bullectomy scars, with unusual locations in both lower lobes.
Fig 3-4. A small cavitary nodule with peripheral GGO was noted in right lower lobe.
Fig 5. The cavitary nodule and GGO had disappeared after three months.
Brief Review: The patient has a history of recurrent pneumothorax and easy bruising. Through physical examination, joint laxity was observed. The COL3A1 variant was identified by NGS study, and he was diagnosed with Ehlers-Danlos syndrome, vascular type. Also, his father has a history of ruptured abdominal aorta.
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There are 13 subtypes, each with distinct mutations in various collagen-encoding genes and phenotypic manifestations. The vascular EDS (vEDS, type IV) is an autosomal dominant disease caused by a single allele mutation in the COL3A1 gene encoding for type III collagen. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, vEDS representing approximately 5 to 10% of cases. vEDS is known as the most malignant form of EDS because of the high likelihood of developing spontaneous blood vessel rupture from aneurysms, dissections, transmural tears and rupture of the uterus and bowel. Respiratory system involvement is not common in EDS IV, but when present, pneumothoraces are the most common respiratory complications. Emphysema, bullae, cavitary nodules, and fibrous nodules can be seen on a chest CT scan and are hypothesized to be caused by spontaneous rupture of the alveolar wall and the creation and organization of hematoma. The fragility and disruption of vessels and alveoli may cause hemorrhage and hemoptysis. Patients should undergo routine surveillance by noninvasive imaging of the chest, abdomen, and pelvis to monitor the progression of vascular complications.
References: 1. Hatake K, Morimura Y, Kudo R, Kawashima W, Kasuda S, Kuniyasu H. Respiratory complications of Ehlers-Danlos syndrome type IV. Leg Med (Tokyo). 2013;15(1):23-27. doi:10.1016/j.legalmed.2012.07.005
2. Boussouar S, Benattia A, Escudi
Keywords

No. of Applicants : 95

▶ Correct Answer : 13/95, 13.7%

- Saitama-Sekishinkai Hosptal , Japan MIHOKO YAMAZAKI
- Shiga University of Medical Science , Japan AKITOSHI INOUE
- Tiger Gate Hospital , Japan SHIN-ICHI CHO
- Vita Hospital , Brazil DIOGO LAGO PINHEIRO
- The University of Tokyo Hospital , Japan TOSHIHIRO FURUTA
- Kyoto University Hospital , Japan YASUHISA KURATA
- Osaka metropolitan university Hospital , Japan TATSUSHI OURA
- Korea University Anam Hospital , Korea (South) KYU-CHONG LEE
- Yonsei University,Severance Hospital , Korea (South) SEO BUM CHO
- Ichinomiya Nishi Hospital , Japan Takao Kiguchi
- Matsunami General Hospital , Japan TARO TAKEDA
- Inje University Pusan Paik Hospital , Korea (South) GEOJEONG SEO
- Kyoto university , Japan AKIHIKO SAKATA

▶ Correct Answer as Differential Diagnosis : 6/95, 6.3%

- , Japan HIROAKI ARAKAWA
- Inje University Pusan Paik Hospital , Korea (South) JIYEON HAN
- Osaka Metropolitan University Hospital , Japan SHU MATSUSHITA
- Toranomon Hospital , Japan KAORU SUMIDA
- , Japan YUMI MAEHARA
- Jiangsu province hospital , China WANGJIAN ZHA

대한흉부영상의학회 Korean Society of Thoracic Radiology

Cases by Disease Category

Case No : 1319 Date 2023-01-30

Discussion

No. of Applicants : 95