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Weekly Chest CasesArchive of Old Cases

Case No : 910 Date 2015-04-06

  • Courtesy of Hyun Jung Koo, Sang Young Oh, Hyun Joo Lee, Kyung-Hyun Do / Asan Medical Center
  • Age/Sex 38 / F
  • Chief ComplaintA facial skin lesion, family history of renal cell carcinoma
  • Figure 1
  • Figure 2
  • Figure 3
  • Figure 4

Diagnosis With Brief Discussion

Diagnosis
Birt-Hogg-Dubé syndrome
Radiologic Findings
Axial and coronal images of high-resolution CT show several small, thin-walled, cystic lesions in both lungs.
DNA analysis of the patient revealed a heterozygosis mutation in exon 4 of the FLCN gene, which encodes the protein, folliculin. The patient was finally diagnosed as having Birt-Hogg-Dubé (BHD) syndrome.
Brief Review
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disease caused by mutation of the folliculin (FLCN) gene located in chromosome 17p11.2 which is expressed in stromal cells and type 1 pneumocytes. BHD syndrome manifests as cutaneous lesions, renal tumors or spontaneous pneumothorax. This disease was described by Birt and colleagues in 1977 as a familial dermatological disorder. Fibrofolliculoma is known as the most characteristic finding of BHD, with lung cysts noted in 77-89% of patients with BHD syndrome. Spontaneous pneumothorax owing to lung involvement has been reported in 33-38% of cases, most commonly occurring between 20-40 years of age.
Radiologically, BHD syndrome presents as bilateral cysts with lower lung predominance (87%). The cysts are irregular in shape, usually round and oval, and the cyst walls are observed to be thin and uniform. No nodules, ground-glass opacities, or signs of honeycombing are noted in this disease.
Differential diagnoses of cystic lung diseases include lymphangioleiomyomatosis, Langerhans cell histiocytosis, and lymphocytic interstitial pneumonia. Lymphangioleiomyomatosis may be associated with angiomyolipoma, however, they would also show diffuse uniform thin-walled cysts. Langerhans cell histiocytosis is usually presented in smokers, and early centrilobular nodules sparing the costophrenic angles are characteristic findings. Perivascular cysts in lymphocytic interstitial pneumonia can be found in combination with ground-glass opacities, and may be associated with Sjögren's syndrome or lymphoproliferative disorders.
Dermatologic examination of the skin lesions and familial history may be helpful in differentiating BHD syndrome from other cystic lung diseases. This diagnosis is difficult to make radiologically, thus genetic confirmation to identify gene mutations may be warranted. In conclusion, the possibility of BHD should be kept in mind when we encounter cystic lung disease.
References
1. Agarwal PP, Gross BH, Holloway BJ., et al. Thoracic CT findings in Birt-Hogg-Dube syndrome. AJR Am J Roentgenol. 2011;196:349-52.
2. Seaman, D. M., Meyer, C. A., Gilman, M. D, et al. Diffuse cystic lung disease at high-resolution CT. AJR Am J Roentgenol. 2011; 196:1305–1311.
3. Trotman-Dickenson, B. Cystic lung disease: Achieving a radiologic diagnosis. Eur J Radiol. 2014;83:39– 46.
Please refer to
Case 699
Keywords
Lung, Others,

No. of Applicants : 130

▶ Correct Answer : 95/130,  73.1%
  • - Kyoto University , Japan Akihiko Sakata
  • - Bahcesehir University School of Medicine, Radiology Department , Turkey Mustafa Kemal Demir
  • - The University of Tokyo Hospital , Japan Akifumi Hagiwara
  • - DAYA General Hospital,Thrissur,Kerala , India Raveendran TK
  • - Okinawa Kyodo Hospital , Japan Shoko Iraha
  • - Niigata City General Hospital , Japan Takao Kiguchi
  • - Government Medical College, Nagpur, India , India Krishna Prasad Bellam
  • - Daejin Medical Center Bundang Jesaeng General Hospital , Korea (South) Donghwan Kim
  • - The University of Tokyo Hospital , Japan Toshihiro Furuta
  • - Shiga University of Medical Science , Japan Akitoshi Inoue
  • - Yokohama-asahi-chuo-general hospital , Japan Kyoko Nagai
  • - SNUH , Korea (South) Eui Jin Hwang
  • - Diagnose.me (BV) / Royal Perth Hospital , Australia Yuranga Weerakkody
  • - Ondokuz Mayis University , Turkey Cetin Celenk
  • - Seoul university hospital , Korea (South) Youngjin Ryu
  • - Asan Medical Center , Korea (South) Jooae Choe
  • - Diskapi Yildirim Beyazit Hospital, Ankara , Turkey Meric Tuzun
  • - CHU Poitiers , France Yannick DE LA TORRE
  • - SGPGIMS , India DEVINDER PAL DHANOTA
  • - �stanbul , Turkey Ayhan Yilmaz
  • - Pamukkale University, Faculty of Medicine, Dept. of Radiology , Turkey Furkan Ufuk
  • - McGill University Health Center , Canada Alexandre Semionov
  • - university of montreal , Canada Andrei Gorgos I
  • - sanjai gandhi pgims , India nagabhushan n
  • - CNUH , Korea (South) Noh Hoon
  • - CHRU Lille , France Paul Lebert
  • - Seoul National University Hospital , Korea (South) Hyoung-In Choi
  • - ACE Fortis , India DAMANDEEP CHAWLA
  • - Freelance resident in Reunion Island , Reunion Fabien HO
  • - CHU Poitiers , France CHAN paul
  • - Resident of radiology, Kyungpook national university hospital , Korea (South) Min a Lee
  • - DAYANAND MEDICAL COLLEGE AND HOSPITAL , India AVIK BANERJEE
  • - MBAL BURGAS , Bulgaria VLADISLAV RUSINOV
  • - CH de la Cote Basque , France Paul ARDILOUZE
  • - UZA , Belgium Eline De Smet
  • - Tokyo Metropolitan Police Hospital , Japan Eisuke Shibata
  • - CARE HOSPITAL , India shakti satapathy
  • - University of British Columbia , Canada Amr Ajlan
  • - Pusan National University Yangan Hospital , Korea (South) yoonyoung choi
  • - Otsu Red Cross Hospital , Japan Hirotsugu Nakai
  • - The University of Tokyo Hospital , Japan Takeyuki Watadani
  • - Ajou University hospital , Korea (South) Hun Cho
  • - CHRU Lille , France Julien Pagniez
  • - GHICL , France manuel toledano
  • - Onomichi municipal hospital , Japan Hirofumi Mifune
  • - National Center hospital of Neurology and Psychiatry , Japan Kaoru Sumida
  • - Busan national univercity hospital radiology department , Korea (South) Il-wan Son
  • - Niigata University , Japan Atsushi Uehara
  • - Pusan national university hospital , Korea (South) Minkyu Kwak
  • - PNUH , Korea (South) Seungbaek Hong
  • - CLCC Rennes , France nicolas gautier
  • - Asan Medical Center , Korea (South) Soyeoun Lim
  • - Okayama University Hospital , Japan Toshiyuki Komaki
  • - Seirei Hamamatsu General Hospital , Japan Kenichi Mizuki
  • - Northern Yokohama Showa university , Japan Kota Watanabe
  • - CHU POITIERS , France SZTARK Guillaume
  • - Onomichi Municipal Hospital , Japan Yoshihisa Masaoka
  • - Dong-A University Hospital , Korea (South) Won Jin Choi
  • - Fortis hospital , Mohali , India Shaleen Rana
  • - Kizawa Memorial Hospital , Japan Yo Kaneko
  • - Ishikawa Matto Central Hospital , Japan Manabu Akimoto
  • - GMC & Sir JJ Hospital, Mumbai, India. , India Gaurav Watane
  • - All India Institute of Medical Sciences , India Jitesh Ahuja
  • - Pneumologia Universitaria, Policlinico di Bari , Italy Mario Damiani
  • - , Korea (South) Chan Park
  • - Asan Medical Center , Korea (South) Dong Wook Kim
  • - MT agarwal hospital,Mulund, Mumbai , India ashish sarode
  • - Asan Medical Center , Korea (South) , Korea (South) Han Na Lee
  • - ZIGONG TCM HOSPITAL OF CHINA , China Cao Cunyou
  • - Kilpauk medical college , India abirami mahadevan
  • - SNUH , Korea (South) YE RA CHOI
  • - Wuhan Union Hospital , China Qiguang Cheng
  • - Chungbuk national university , Korea (South) Yong Kim
  • - chungbuk national university hospital , Korea (South) lee jung hwan
  • - chungbuk university hospital , Korea (South) Hyeonmi Ryu
  • - Ewha Womans University Hospital , Korea (South) YOOKYUNG KIM
  • - IRSA LA ROCHELLE , France, Metropolitan BIGOT
  • - Seoul National University Hospital , Korea (South) Hyun-ju Lim
  • - Shanghai Tongji Hospital , China ziqiang zhang
  • - VHS medical center , Korea (South) Keuntak Roh
  • - Kobe City Medical Center General Hospital , Japan Yasuhisa Kurata
  • - 異⑸ , Korea (South) Junghwan Kim
  • - Teikyo University Mizonokuchi Hospital , Japan Noriko Kobayashi
  • - Pusan national university hospital , Korea (South) hie bum suh
  • - All India Institute of medical sciences , India Justin Moses
  • - CLINIQUE STE CLOTILDE , Reunion patrick MASCAREL
  • - Catholic University Sacred Heart , Italy Mariaelena Occhipinti
  • - Osaka Medical Center for Cancer and Cardiovascular Diseases , Japan Akio Tsukabe
  • - Kizawa Memorial Hospital , Japan Shoji Okuda
  • - Gifu Central Hospital , Japan Haruo Watanabe
  • - Deptt of Radiodiagnosis & Imaging, PGIMER chandigarh , India Ram Galwa
  • - NASA SCANS , India RAKESH BHATIA
  • - Ibaraki-gazou-shindan , Japan Shoichi Katoh
  • - Himeji Red Cross Hospital , Japan Mayu Uka
  • - Medicheck health care , Korea (South) Chae Lim
▶ Correct Answer as Differential Diagnosis : 7/130,  5.4%
  • - Nagasaki University Hospital, Department of Pathology , Japan TOMONORI TANAKA
  • - SQUH , Oman Saleh Baawain
  • - smc , India gayathri ganesh
  • - chungbuk national university hospital , Korea (South) soojung lee
  • - Asan , Korea (South) Sania ALBlushi
  • - IRSA La Rochelle , France Denis Chabassiere
  • - 異⑸ , Korea (South) Yunhee Jang
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