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Weekly Chest CasesArchive of Old Cases

Case No : 1333 Date 2023-05-07

  • Courtesy of Da Som Kim, Ji-yeon Han, Seok Jin Choi / Inje University Busan Paik Hospital
  • Age/Sex 70 / M
  • Chief ComplaintIncidental abnormal findings on screening
  • Figure 1
  • Figure 2
  • Figure 3
  • Figure 4
  • Figure 5

Diagnosis With Brief Discussion

Diagnosis
Birt-Hogg-Dube syndrome
Radiologic Findings
Fig 1-4. Axial and coronal reconstructed chest CT scans show multiple air cysts of varying size abutting vascular bundles in both lungs with lower predominancy. The cysts showed lobulated or multi-septated appearance.
Fig 5. KUB CT scan shows an avidly arterial enhancing mass in the lower pole of the right kidney, suggestive of renal cell carcinoma.

In the present case, incidental right renal mass was detected on screening kidney ultrasonography and AP CT. Right partial nephrectomy was performed, and the diagnosis was papillary renal cell carcinoma. The diagnosis of Birt-Hogg-Dube(BHD) syndrome was confirmed by heterozygosis mutations in exon 11 of the folliculin (FLCN) gene.
Brief Review
Birt-Hogg Dube (BHD) syndrome, initially described in 1977, is an uncommon autosomal dominant disorder characterized by the presence of skin fibrofolliculomas, pulmonary cysts, and renal cancer. This condition is caused by germline mutations in the FLCN (folliculin) gene, which is located on chromosome 17p11.2 and encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway.
Radiologically, more than 80% of adult patients with BHD had multiple lung cysts, most often located in the lower, peripheral lung regions and along the mediastinum. The shape and size of cysts are variable. Cysts are predominantly located in the lower medial lung zone, and large cysts have a lobulated, multiseptated appearance, particularly those in the lower lungs. Cysts abutting proximal portions of lower pulmonary arteries or veins may also exist.
The histology of pleuropulmonary lesions in BHD is consistent with emphysematous changes. Despite the presence of multiple lung cysts, lung function is usually unaffected. Due to the propensity of cysts to rupture, affected individuals are predisposed to spontaneous pneumothorax (estimated 50-fold higher risk of pneumothorax than in the general population) with a high recurrence rate, approximately 80% with an average number of 3.6 episodes. The mean age of occurrence of the first episode of pneumothorax was between 30-40 years of age.
Differential diagnosis of cystic lung disease includes lymphangioleiomyomatosis (LAM), lymphocytic interstitial pneumonia (LIP), and Langerhans cell histiocytosis (LCH). LAM, which may be associated with tuberous sclerosis, shows diffuse uniform thin-walled cysts in comparison with lung cysts in BHD. LIP, which may be associated with Sjogren’s syndrome or lymphoproliferative disorders, tends to have perivascular cysts in combination with ground-glass opacity. LCH, which is usually presented in smokers, has early centrilobular nodules sparing the costophrenic angle.
References
1. Lee, J. H., Jeon, M. J., Song, J. S., Chae, E. J., Choi, J. H., Kim, G. H., & Song, J. W. (2019). Birt-Hogg-Dube syndrome in Korean: clinicoradiologic features and long term follow-up. The Korean journal of internal medicine, 34(4), 830.
2. Menko, F. H., Van Steensel, M. A., Giraud, S., Friis-Hansen, L., Richard, S., Ungari, S., ... & European BHD Consortium. (2009). Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10(12), 1199-1206.
3. Daccord, C., Good, J. M., Morren, M. A., Bonny, O., Hohl, D., & Lazor, R. (2020). Birt–hogg–dubé syndrome. European Respiratory Review, 29(157).
4. Lee, K. C., Kang, E. Y., Yong, H. S., Kim, C., Lee, K. Y., Hwang, S. H., & Oh, Y. W. (2019). A stepwise diagnostic approach to cystic lung diseases for radiologists. Korean journal of radiology, 20(9), 1368-1380.
Please refer to
Case 699 Case 910
Keywords

No. of Applicants : 118

▶ Correct Answer : 101/118,  85.6%
  • - Ishikawa Matto Central Hospital , Japan MANABU AKIMOTO
  • - Chonnam National University Hwasun Hospital , Korea (South) KWANGKUN CHO
  • - Saitama-Sekishinkai Hosptal , Japan MIHOKO YAMAZAKI
  • - , Japan HIROAKI ARAKAWA
  • - The University of Tokyo Hospital , Japan JUN KANZAWA
  • - ZIGONG TCM HOSPITAL OF CHINA , China CAO CUN YOU
  • - , Japan KYOKO NAGAI
  • - Ulsan University Hospital , Korea (South) SOYEOUN LIM
  • - Shiga University of Medical Science , Japan AKITOSHI INOUE
  • - , United Kingdom SAMSON KADE
  • - Chonnam National University Hwasun Hospital , Korea (South) SEONGWOO CHO
  • - CH de la Cote Basque , France PAUL ARDILOUZE
  • - McGill University Health Center , Canada ALEXANDRE SEMIONOV
  • - Kyoto City Hospital , Japan YUSUKE UTSUNOMIYA
  • - IRSA LA ROCHELLE , France JEAN LUC BIGOT
  • - National Center of Neurology and Psychiatry , Japan MOTO NAKAYA
  • - Seoul National University Hospital , Korea (South) HYUNGIN PARK
  • - Healthy Longevity Medical Center , Japan SHIN-ICHI CHO
  • - Chungbuk National University Hospital , Korea (South) JIYUN KANG
  • - , Korea (South) YUNA LEE
  • - Vita Hospital , Brazil DIOGO LAGO PINHEIRO
  • - Other , Korea (South) SEONGSU KANG
  • - , Korea (South) JIN YOUNG LEE
  • - Secomedic Hospital , Japan FUMINORI MIYOSHI
  • - Oita University, Faculty of Medicine , Japan FUMITO OKADA
  • - Inje University Pusan Paik Hospital , Korea (South) GANGWON JEONG
  • - , United Arab Emirates GAYATHRI GANAPATHY
  • - Seoul Medical Center , Korea (South) HYUK GI HONG
  • - Samsung Medical Center , Korea (South) JUHYUN KIM
  • - The University of Tokyo Hospital , Japan WATARU GONOI
  • - university of montreal , Canada Andrei Bogdan Gorgos I
  • - Chonbuk National University Hospital , Korea (South) JUNGHWAN KIM
  • - Osaka University , Japan AKINORI HATA
  • - Kaneda hospital , Japan HIROFUMI MIFUNE
  • - Ajou University Hospital , Korea (South) HAEIN LEE
  • - Shimada General Medical Center , Japan HAYATO NOZAWA
  • - , Korea (South) HWAJIN LEE
  • - Soonchunhyang University Hospital Bucheon , Korea (South) HYEJOO PARK
  • - Ajou University Hospital , Korea (South) HYUNSEUNG LEE
  • - , Japan YUKIKO USUI
  • - The University of Tokyo Hospital , Japan TOSHIHIRO FURUTA
  • - Ajou University Hospital , Korea (South) MINJI KIM
  • - Yamanashi Prefectural Central Hospital , Japan HIROAKI WATANABE
  • - Ajou University Hospital , Korea (South) JAYOUNG MOON
  • - Chungbuk National University Hospital , Korea (South) SOHUI JIN
  • - Presbyterian Medical Center , Korea (South) SOOYEON JEONG
  • - Samsung Medical Center , Korea (South) HARIM KIM
  • - Gifu University Hospital , Japan Yo Kaneko
  • - Hukuda memorial hospital , Japan SHINTARO KANO
  • - , Japan KAYANO MASAKI
  • - , Japan KENTARO KOTANI
  • - Kyoto University Hospital , Japan YASUHISA KURATA
  • - Ajou University Hospital , Korea (South) YOU NA KIM
  • - Other , Korea (South) CHAEHUN LIM
  • - Osaka Metropolitan University Hospital , Japan SHU MATSUSHITA
  • - Chungbuk National University Hospital , Korea (South) MIHYEON PARK
  • - Jichi Medical University, School of Medicine , Japan MITSURU MATSUKI
  • - University of Tsukuba, Dept of Radiology , Japan MANABU MINAMI
  • - Avrasya Hospital/ISTANBUL , Turkey MURAT ULUSOY
  • - Eskisehir Sehir Hastanesi , Turkey MURAT SAHIN
  • - Korea University Guro Hospital , Korea (South) LEE DAKYONG
  • - Korea University Guro Hospital , Korea (South) SANGSEOK OH
  • - Osaka metropolitan university Hospital , Japan TATSUSHI OURA
  • - Dokkyo Medical University , Japan HIROAKI ARAKAWA
  • - Chungbuk National University Hospital , Korea (South) PARK JUN HYEON
  • - Seoul National University Hospital , Korea (South) SUNGHO HONG
  • - , Korea (South) KIM HYE IN
  • - TB centre kasaragod. , India rikhy krishnan
  • - Chonnam National University Hospital , Korea (South) KIM SANG GYUN
  • - Korea University Anam Hospital , Korea (South) KYU-CHONG LEE
  • - Kyung-hee University Medical Center , Korea (South) HYE-SUN RYU
  • - , Korea (South) SEUNG HOON OH
  • - Nishida Hospital , Japan SHOJI OKUDA
  • - Kyoto University , Japan SHO KOYASU
  • - Seoul National University Bundang Hospital , Korea (South) YOONAH DO
  • - Chonnam National University Hospital , Korea (South) SOMIN LEE
  • - CHA University, CHA Bundang Medical Center , Korea (South) HWANGSEON JU
  • - Yonsei University,Severance Hospital , Korea (South) SEO BUM CHO
  • - Kantou Rousai Hospital , Japan KAORU SUMIDA
  • - Chonbuk National University Hospital , Korea (South) SEOYUN CHOI
  • - Ichinomiya Nishi Hospital , Japan Takao Kiguchi
  • - Nerimahikarigaoka hospital , Japan TAKANA HAYASHI
  • - The University of Tokyo Hospital , Japan HIROSHI TAKUMIDA
  • - Matsunami General Hospital , Japan TARO TAKEDA
  • - , Korea (South) SONG MYUNG WON
  • - Chonnam National University Hospital , Korea (South) SEUNG WAN KANG
  • - Sotiria Hospital, Athens , Greece VASILIOS TZILAS
  • - , Japan YUMI MAEHARA
  • - Shiga University of Medical Science , Japan RYO UEMURA
  • - College of Medicine, CHA University , Korea (South) PARK JONG WON
  • - Toyota Kosei Hospital , Japan YUKI HAYASHI
  • - Diagnose.me (BV) / Royal Perth Hospital , Australia YURANGA WEERAKKODY
  • - The Catholic University of Korea Yoeuido St. Mary , Korea (South) CHAWOONG JEON
  • - Kyoto university , Japan AKIHIKO SAKATA
  • - the first affiliatited hospital of nanjing medical univercity , China HAI XU
  • - , Korea (South) HYEONGYU YOO
  • - Chonnam National University Hospital , Korea (South) EUN JU KIM
  • - Other , Korea (South) YONG HO JANG
  • - Seoul Veterans Hospital , Korea (South) HYUN JUNG YOON
  • - , Korea (South) JIN WOO YOON
  • - Juntendo University , Japan YUTAKA IKENOUCHI
▶ Correct Answer as Differential Diagnosis : 2/118,  1.7%
  • - NIMS, HYDERABAD , India BHASKAR K
  • - Soonchunhyang University Hospital Seoul , Korea (South) WONJONG JEONG
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