대한흉부영상의학회 Weekly Chest Cases

Case No : 1497 Date 2026-06-29

Courtesy of Jung Hee Hong, Ki Ryoung Lee / Keimyung University Dongsan Medical Center
Age/Sex 18 / M
Chief ComplaintHemoptysis. History of Lt. Achilles tendon rupture surgery, 10 years ago

Figure 1
Figure 2

Diagnosis With Brief Discussion

Diagnosis: Ehlers-Danlos syndrome type IV
Radiologic Findings: Figs 1 and 2. Contrast-enhanced chest CT shows cavitary nodules with surrounding GGO in both lower lobes, and subpleural/parenchymal consolidation wih GGO in left lower lobe.
Brief Review: The patient underwent a genetic test, which confirmed a COL3A1 gene LPV mutation and finally diagnosed with Ehlers-Danlos syndrome type IV.
Ehlers-Danlos syndrome is a hereditary disorder that affects connective tissue due to mutations in genes responsible for the structure and biosynthesis of collagen, a key component of the ECM. Patients are characterized by skin hyperextensibility, joint hypermobility, and general connective tissue fragility. EDS is classified into six subtypes, with type IV, the vascular type, accounting for approximately 4% of cases, known to have the worst prognosis.
Type IV EDS patients frequently present with arterial diseases such as aneurysms, arterial dissections, and arterial dilatations across various vascular sites. Despite normal coagulation profiles, patients may exhibit a bleeding tendency. They have a high risk of fatal complications, including cerebral hemorrhage, bowel rupture, and uterine rupture during pregnancy. Therefore, invasive diagnostic procedures or surgery can result in life-threatening complications such as bleeding.
According to a previous study, 57% of patients with type IV EDS exhibited pulmonary abnormalities. The most common abnormalities were emphysema, cavitary nodules, calcified micro-nodules, and hemothorax or pneumothorax. The cavitary nodules observed on imaging are likely hematomas resulting from spontaneous rupture of small arteries due to connective tissue fragility, which progress to fibrous nodules and eventually to calcified micronodules. Although type IV EDS is a rare condition, pulmonary manifestations are not uncommon. Therefore, it is essential to be familiar with the imaging findings associated with this condition.
In conclusion, when encountering a patient with cavitary nodules and ground-glass opacities on imaging, along with rapidly increasing pneumothorax and bleeding tendencies, type IV EDS should be considered as a differential diagnosis. Overall, rapid and non-invasive diagnosis can significantly reduce the risk of potentially fatal complications in these patients.
References: Chest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report. J Korean Soc Radiol. 2025 Nov;86(6):1092-1097.
Keywords

No. of Applicants : 85

▶ Correct Answer : 56/85, 65.9%

- Saitama-Sekishinkai Hosptal , Japan MIHOKO YAMAZAKI
- medical scanning , Japan HIROAKI ARAKAWA
- Teikyo University Hospital , Japan ISSEI FUKUDA
- , Japan HIROKI SAKURADA
- Shiga University of Medical Science , Japan AKITOSHI INOUE
- Kyoto University , Japan AKIHIKO SAKATA
- Chonnam National University Hospital , Korea (South) HYUNJIN KIM
- Inje University Ilsan Paik Hospital , Korea (South) MINSEOK CHOI
- Chonnam National University Hospital , Korea (South) JUNYEOL YANG
- , Korea (South) DONG HEE LEE
- Vita Hospital , Brazil DIOGO LAGO PINHEIRO
- Kyeongpook National University Hospital , Korea (South) JUNGMIN LEE
- Chonbuk National University Hospital , Korea (South) EUNCHONG LEE
- Other , Korea (South) HEE SEOK CHOI
- Other , Korea (South) SEONGSU KANG
- Ehime University , Japan KAI ICHIKAWA
- , Korea (South) JIN YOUNG LEE
- Kyung Hee University Medical Hospital , Korea (South) INKEON YEO
- Chonbuk National University Hospital , Korea (South) YONG HWAN JO
- Secomedic Hospital , Japan FUMINORI MIYOSHI
- Oita University, Faculty of Medicine , Japan FUMITO OKADA
- Inje University Pusan Paik Hospital , Korea (South) GANGWON JEONG
- QATIF CENTRAL HOSPITAL , Saudi Arabia HANI M ALSALAM
- Osaka University , Japan AKINORI HATA
- University of Yamanashi , Japan HIROYUKI MORISAKA
- Chiba University Hospital , Japan HIROKI MIYAZAKI
- Teikyo University Hospital, Mizonokuchi , Japan TOSHIHIRO FURUTA
- Nara Medical University , Japan AYA YAMADA
- Chonbuk National University Hospital , Korea (South) JUNGHOON OH
- Otsu Red Cross Hospital , Japan JUN YOSHIDA
- The Catholic University of Korea Yoeuido St. Mary , Korea (South) OHMIN KWON
- Chonbuk National University Hospital , Korea (South) SEUNG HO LEE
- Osaka Metropolitan University Hospital , Japan SHU MATSUSHITA
- , Korea (South) HEONSEOK LEE
- Jichi Medical University, School of Medicine , Japan MITSURU MATSUKI
- , Japan MASAMICHI IWAI
- Osaka metropolitan university Hospital , Japan TATSUSHI OURA
- Seoul Medical Center , Korea (South) YONGJOO LEE
- Nara Medical University , Japan KATSUTOSHI HORIUCHI
- Dokkyo Medical University , Japan HIROAKI ARAKAWA
- Seoul Medical Center , Korea (South) HANSEUL CHO
- , Japan TOMOHIRO KAWAJI
- Paras hospital, Panchkula , India SHALEEN RANA
- Kyoto University , Japan SHO KOYASU
- Kobe Children , Japan SHUHEI NORIMOTO
- Kyung Hee University Medical Hospital , Korea (South) JEONG TAEK YOON
- Yonsei University,Severance Hospital , Korea (South) SEO BUM CHO
- Fukuoka university , Japan KEISUKE SATO
- Kantou Rousai Hospital , Japan KAORU SUMIDA
- Ichinomiya Nishi Hospital , Japan Takao Kiguchi
- Matsunami General Hospital , Japan TARO TAKEDA
- Ehime University , Japan TOMOHISA OKADA
- Ehime University , Japan KOTARO MATSUMOTO
- Chonbuk National University Hospital , Korea (South) HYEONG RYUN CHO
- , Korea (South) JIYUN KIM
- University of Yamanashi , Japan KOJIRO ONOHARA

▶ Correct Answer as Differential Diagnosis : 3/85, 3.5%

- Kyeongpook National University Hospital , Korea (South) JOHN BAEK
- Kyoto University Hospital , Japan YUSUKE UTSUNOMIYA
- TB centre kasaragod. , India rikhy krishnan

대한흉부영상의학회 Korean Society of Thoracic Radiology

Archive of Old Cases

Case No : 1497 Date 2026-06-29

Discussion

No. of Applicants : 85