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Weekly Chest CasesArchive of Old Cases

Case No : 1441 Date 2025-06-02

  • Courtesy of Hyungin Park / Haeundae Paik Hospital
  • Age/Sex 45 / F
  • Chief ComplaintAbnormality on health check-up
  • Figure 1
  • Figure 2
  • Figure 3
  • Figure 4
  • Figure 5
  • Figure 6

Diagnosis With Brief Discussion

Diagnosis
Birt-Hogg-Dubé syndrome
Radiologic Findings
Fig 1. Chest PA shows cystic lesions predominantly in right lower lung field.
Fig 2-5. Axial chest images of high-resolution CT show variable sizes of thin-walled cystic lesions in both lungs, predominalty in lower, peripheral lung zone.
Fig 6. Coronal mediastinal setting image show well-defined high density nodule in the upper pole of the right kidney, suspicious of malignant tumor
Brief Review
Pathogenic FLCN germline mutation was confirmed on the DNA analysis. The patient was ultimately diagnosed with Birt–Hogg–Dubé (BHD) syndrome. She had a family history of renal cell carcinoma (RCC) in her father. No skin lesions were observed
Birt-Hogg-Dubé syndrome is an autosomal dominant, multisystem disorder caused by a mutation in the folliculin gene, FLCN (17p11.2).
On CT, more than 80% of adult patients with BHD have multiple lung cysts, and lung parenchyma except for multiple lung cysts generally appears normal . Multiple thin-walled lung cysts are predominantly seen in lower, peripheral lung zones and along the mediastinum. The shape and size of cysts are variable; they can be round, oval, lentiform, lobulated, or irregularly shaped, and generally have perceptible thin walls.. The histological features of BHD cysts are generally indistinguishable from those of emphysema..
The presence of lung cysts is significantly associated with spontaneous pneumothorax. Therefore, the presence of spontaneous pneumothorax in a young adult, with a family history of pneumothorax, skin lesions, or renal tumors, should indicate the possibility of BHD. Pleurodesis is frequently performed after the initial episode of spontaneous pneumothorax because of a high incidence of recurrence
All patients with pulmonary manifestations of BHD have characteristic skin and/or renal lesions or a family history. MRI of the kidneys is recommended every 3 years to exclude the known propensity for the development of chromophobe cell cancer and oncocytomas in these patients.
References
1. Menko FH, van Steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol 2009;10(12):1199–1206.
2. Aivaz O, Berkman S, Middelton L, Linehan WM, DiGiovanna JJ, Cowen EW. Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dubé Syndrome. JAMA Dermatol 2015;151(7):770–774.
3. Gupta N, Kopras EJ, Henske EP, et al. Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. Ann Am Thorac Soc 2017;14(5):706–713.
4. Gupta N, Vassallo R, Wikenheiser-Brokamp KA, McCormack FX. Diffuse cystic lung disease. Part II. Am J Respir Crit Care Med 2015;192:17–29
5. Lee KC, Kang EY, Yong HS et al. A Stepwise Diagnostic Approach to Cystic Lung Diseases for Radiologists. Korean J Radiol. 2019 Sep;20(9):1368-1380
Keywords

No. of Applicants : 76

▶ Correct Answer : 68/76,  89.5%
  • - Funabashi General Hospital , Japan MANABU AKIMOTO
  • - Saitama-Sekishinkai Hosptal , Japan MIHOKO YAMAZAKI
  • - , Japan SUZUNE TSUKAMOTO
  • - medical scanning , Japan HIROAKI ARAKAWA
  • - IUHW Narita Hospital , Japan ISSEI FUKUDA
  • - ZIGONG TCM HOSPITAL OF CHINA , China CAO CUN YOU
  • - Shiga University of Medical Science , Japan AKITOSHI INOUE
  • - Kyoto University , Japan AKIHIKO SAKATA
  • - Affilitated Hospital of Jining Medical college , China JIANG SHENG HUA
  • - McGill University Health Center , Canada ALEXANDRE SEMIONOV
  • - Oita university , Japan AYUMI KAMEI
  • - Kyoto City Hospital , Japan YUSUKE UTSUNOMIYA
  • - Inje University Haeundae Paik Hospital , Korea (South) HYUNGIN PARK
  • - , Italy PAOLO BALDASSARI
  • - Teikyo University Hospital , Japan CHIAKI SATO
  • - , Korea (South) JIN YOUNG LEE
  • - Secomedic Hospital , Japan FUMINORI MIYOSHI
  • - Oita University, Faculty of Medicine , Japan FUMITO OKADA
  • - , Italy GABRIELE MANTIA
  • - university of montreal , Canada Andrei Bogdan Gorgos I
  • - , Saudi Arabia HANI M ALSALAM
  • - University of Yamanashi , Japan TAKAAKI HASHIMOTO
  • - Osaka University , Japan AKINORI HATA
  • - University of Yamanashi , Japan HIROYUKI MORISAKA
  • - , Japan HIROKI MIYAZAKI
  • - The University of Tokyo Hospital , Japan TOSHIHIRO FURUTA
  • - , Japan YOSHIKI ISHII
  • - University of Yamanashi , Japan HIROAKI WATANABE
  • - Yonsei University,Severance Hospital , Korea (South) JUN GU KANG
  • - Hallym University Medical Center , Korea (South) JUNGMIN LIM
  • - Ajou University Hospital , Korea (South) YOU NA KIM
  • - , Japan SHUNJIRO NOGUCHI
  • - , Japan MARINO TANIGUCHI
  • - , Korea (South) HEONSEOK LEE
  • - Jichi Medical University, School of Medicine , Japan MITSURU MATSUKI
  • - University of Tsukuba, Dept of Radiology , Japan MANABU MINAMI
  • - Shiga General Hospital , Japan YUSAKU MORIBATA
  • - Avrasya Hospital/ISTANBUL , Turkey MURAT ULUSOY
  • - Osaka metropolitan university Hospital , Japan TATSUSHI OURA
  • - Mie university , Japan SHIKO OKABE
  • - , Korea (South) DAWON PARK
  • - Dokkyo Medical University , Japan HIROAKI ARAKAWA
  • - Other , Korea (South) SEOL A LEE
  • - TB centre kasaragod. , India rikhy krishnan
  • - Korea University Anam Hospital , Korea (South) KYU-CHONG LEE
  • - , Japan MATSUNO MAI
  • - The First Affiliated Hospital of Nanjing Medical University , China TENG ZHANG
  • - Kyoto University , Japan SHO KOYASU
  • - SUNY Downstate , United States SAMUEL REISMAN
  • - Kobe Children , Japan SHUHEI NORIMOTO
  • - Seoul National University Bundang Hospital , Korea (South) YOONAH DO
  • - Kyung Hee University Medical Hospital , Korea (South) JEONG TAEK YOON
  • - CHA University, CHA Bundang Medical Center , Korea (South) HWANGSEON JU
  • - Yonsei University,Severance Hospital , Korea (South) SEO BUM CHO
  • - Fukuoka university , Japan KEISUKE SATO
  • - Samsung Medical Center , Korea (South) SEONGUK KIM
  • - Kantou Rousai Hospital , Japan KAORU SUMIDA
  • - Matsunami General Hospital , Japan TARO TAKEDA
  • - , Sweden MOHAMAD TLASS
  • - Sotiria Hospital, Athens , Greece VASILIOS TZILAS
  • - , Japan TAKAHIRO WAKIDA
  • - Toyota Kosei Hospital , Japan YUKI HAYASHI
  • - The Catholic University of Korea Yoeuido St. Mary , Korea (South) CHAWOONG JEON
  • - Seoul National University Hospital , Korea (South) WON JUNG KIM
  • - University of Yamanashi , Japan KOJIRO ONOHARA
  • - , Japan JUN YOSHIDA
  • - Jiangsu province hospital , China WANGJIAN ZHA
  • - Huanggang Central Hospital , China ZHOU GANG
▶ Correct Answer as Differential Diagnosis : 2/76,  2.6%
  • - Skims , India FAHAD BIN SHOWKAT
  • - Osaka Metropolitan University Hospital , Japan SHU MATSUSHITA
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