title: The discovery of a Persian family with a form of Birt-Hogg-Dubé syndrome lacking the typical cutaneous stigmata of the syndrome.
abstract: OBJECTIVE
  This study was performed in 24 members of a family with spontaneous pneumothorax to test clinical suspicion of Birt-Hogg-Dubé syndrome (BHDS).
  
  
  METHODS
  Computed tomography scan was performed for confirmation of pneumothorax, while genetic tests were done using real-time quantitative polymerase chain reaction.
  
  
  RESULTS
  Genetic studies showed a deletion of exon 1 in the FLCN gene in the index case as well as nine other individuals, including two with clinical phenotypes of pneumothorax and seven who are symptom-free to date.
  
  
  CONCLUSIONS
  Proper imaging and taking accurate family history could be the keys to test clinical suspicion in some syndromes, including BHDS.
authors.affiliation: Department of Radiology, Poursina Hospital, Guilan University of Medical Sciences, Rasht, Guilan, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Babaei Jandaghi
authors.forename: Saeid
authors.initials: S
authors.lastname: Daliri
authors.forename: Mika
authors.initials: M
authors.lastname: Kikkawa
authors.forename: Mojdeh
authors.initials: M
authors.lastname: Khaledi
authors.forename: Narjes
authors.initials: N
authors.lastname: Soleimanifar
authors.forename: Ahmad
authors.initials: A
authors.lastname: Alizadeh
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Habibzadeh
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Haghi-Ashtiani
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Seyama
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000328:Adult; D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics*