Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome

Intern Med. 2013;52(21):2453-5. doi: 10.2169/internalmedicine.52.0338.

Abstract

Spontaneous pneumothorax in the elderly commonly occurs due to underlying pulmonary diseases, such as chronic obstructive pulmonary disease, interstitial lung disease, lung cancer, etc. A 73-year-old woman developed pneumothorax for the first time that was a clinical clue to a diagnosis of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition characterized by fibrofolliculomas of the skin, renal tumors and multiple lung cysts predisposing to pneumothorax. Although BHDS patients frequently develop pneumothorax during their twenties to forties, the present case indicates that BHDS should be considered as an underlying cause of pneumothorax in the elderly with undisclosed BHDS.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Birt-Hogg-Dube Syndrome / complications*
  • Birt-Hogg-Dube Syndrome / diagnosis*
  • Birt-Hogg-Dube Syndrome / genetics
  • Female
  • Germ-Line Mutation
  • Humans
  • Phenotype
  • Pneumothorax / etiology*
  • Proto-Oncogene Proteins / genetics
  • Tumor Suppressor Proteins / genetics

Substances

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