Birt-Hogg-Dubé syndrome: diagnosis and management

Fred H Menko, Maurice A M van Steensel, Sophie Giraud, Lennart Friis-Hansen, Stéphane Richard, Silvana Ungari, Magnus Nordenskjöld, Thomas Vo Hansen, John Solly, Eamonn R Maher

Research output: Contribution to journalReview articlepeer-review


Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD.

Original languageEnglish
Pages (from-to)1199-206
Number of pages8
JournalThe Lancet Oncology
Issue number12
Publication statusPublished - 1 Dec 2009


  • Cysts/diagnosis
  • Genetic Testing
  • Germ-Line Mutation
  • Humans
  • Kidney Neoplasms/diagnosis
  • Lung Diseases/diagnosis
  • Pneumothorax/diagnosis
  • Proto-Oncogene Proteins/genetics
  • Skin Diseases/diagnosis
  • Syndrome
  • Tumor Suppressor Proteins/genetics


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