Lung cysts as indicator for Birt-Hogg-Dubé syndrome

Lung. 2014 Feb;192(1):215-6. doi: 10.1007/s00408-013-9522-0. Epub 2013 Oct 22.

Abstract

In this case, we describe a patient with a history of recurrent pneumothorax. Based on CT-thorax and histopathology of the lung tissue, the Birt-Hogg-Dubé syndrome was suspected and confirmed after genetic testing. Recognizing this syndrome by pulmonologists and radiologists is very important, because the risk on developing of renal cell cancer is high.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Birt-Hogg-Dube Syndrome / complications*
  • Birt-Hogg-Dube Syndrome / diagnosis
  • Birt-Hogg-Dube Syndrome / genetics
  • Cysts / diagnosis
  • Cysts / etiology*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Lung Diseases / diagnosis
  • Lung Diseases / etiology*
  • Male
  • Mutation
  • Phenotype
  • Pneumothorax / etiology
  • Proto-Oncogene Proteins / genetics
  • Recurrence
  • Tomography, X-Ray Computed
  • Tumor Suppressor Proteins / genetics

Substances

  • FLCN protein, human
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins