Indian Journal of Respiratory Care

IJRC Email      Register      Login

VOLUME 9 , ISSUE 1 ( January-June, 2020 ) > List of Articles


Birt–Hogg–Dubé Syndrome

Abdulmonam Ali, Naga Srinivas Sirikonda

Keywords : Cystic lung disease, fibrofolliculomas, folliculin gene, lung nodules, pneumothorax, polyps, renal cancer, thin-walled cysts

Citation Information : Ali A, Sirikonda NS. Birt–Hogg–Dubé Syndrome. Indian J Respir Care 2020; 9 (1):103-105.

DOI: 10.4103/ijrc.ijrc_14_19

License: CC BY-NC-SA 4.0

Published Online: 08-12-2022

Copyright Statement:  Copyright © 2020; Indian Journal of Respiratory Care.


Cystic lung diseases have a broad differential diagnosis. Accurate diagnosis can make a significant difference in the management approach, as it is highly disease specific. Unique imaging and clinical features can provide crucial clues that help clinicians distinguish various etiologies. Birth-Hogg-Dubé syndrome is a cystic lung disease with extra pulmonary manifestations. Managements involves solid organ cancer screening and hence accurate diagnosis is vital.

  1. Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al. Birt-hogg-dubé syndrome: Diagnosis and management. Lancet Oncol 2009;10:1199-206.
  2. Raoof S, Bondalapati P, Vydyula R, Ryu JH, Gupta N, Raoof S, et al. Cystic lung diseases: Algorithmic approach. Chest 2016;150:945-65.
  3. Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, et al. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Mod Pathol 2004;17:998-1011.
  4. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113:1674-7.
  5. Schmidt LS. Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med 2004;4:877-85.
  6. Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, et al. Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours. J Med Genet 2003;40:511-5.
  7. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 2002;11:393-400.
  8. Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, et al. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol 2002;26:1542-52.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.