Korean J Thorac Cardiovasc Surg.  2010 Dec;43(6):824-828.

A Case of Primary Spontaneous Pneumothorax with a Three Nucleotide Deletion Mutation of the FLCN Gene

Affiliations
  • 1Department of Laboratory Medicine, Chosun University School of Medicine, Korea.
  • 2Research Center for Resistant Cells, Chosun University School of Medicine, Korea.
  • 3Department of Thoracic and Cardiovascular Surgery, Chosun University School of Medicine, Korea. drgibbon@chosun.ac.kr
  • 4Department of Dermatology, Chosun University School of Medicine, Korea.
  • 5Department of Pathology, Chosun University School of Medicine, Korea.

Abstract

The cause of primary spontaneous pneumothorax (PSP) is obvious. Recently, the FLCN mutation was suggested to be a causal factor in PSP. A 47-year-old Korean male patient with chief complaint of repetitive PSP had numerous emphysematous bullae and multiple large cysts based upon high resolution computer tomography. Here we report a case of PSP with an FLCN c.468_470delTTC mutation.

Keyword

Pneumothorax; FLCN

MeSH Terms

Blister
Humans
Male
Middle Aged
Pneumothorax
Sequence Deletion
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