Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax

Ann Thorac Surg. 2006 Sep;82(3):1123-5. doi: 10.1016/j.athoracsur.2005.11.042.

Abstract

Birt-Hogg-Dube syndrome refers to a dermatologic syndrome, consisting of small papular skins lesion distributed on the scalp, forehead, face and neck, which is autosomal dominantly inherited. Subsequently patients may develop concomitant renal and thoracic pathology. We report the case of a patient with Birt-Hogg-Dube syndrome diagnosed after spontaneous pneumothorax.

MeSH terms

  • Adult
  • Chromosome Disorders / complications
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 17 / genetics
  • Cysts / complications
  • Cysts / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Lung Diseases / complications
  • Lung Diseases / genetics*
  • Pneumothorax / etiology*
  • Pneumothorax / surgery
  • Proteins / genetics
  • Proto-Oncogene Proteins / genetics
  • Rupture, Spontaneous
  • Skin Diseases, Papulosquamous / genetics*
  • Syndrome
  • Tumor Suppressor Proteins / genetics

Substances

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