title: Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.
abstract: BACKGROUND
  Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age.
  
  
  METHODS
  Two non-related patients with (recurrent) pneumothorax starting at age 14 accompanied by multiple basal lung cysts on thoracic CT underwent FLCN germline mutation analysis. A pathogenic FLCN mutation was found in both patients confirming suspected BHD. The family history was negative for spontaneous pneumothorax in both families.
  
  
  CONCLUSIONS
  Although childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.
authors.forename: Paul C
authors.initials: PC
authors.lastname: Johannesma
authors.forename: Ben E E M
authors.initials: BE
authors.lastname: van den Borne
authors.forename: Johannes J P
authors.initials: JJ
authors.lastname: Gille
authors.forename: Ad F
authors.initials: AF
authors.lastname: Nagelkerke
authors.forename: JanHein T M
authors.initials: JT
authors.lastname: van Waesberghe
authors.forename: Marinus A
authors.initials: MA
authors.lastname: Paul
authors.forename: R Jeroen A
authors.initials: RJ
authors.lastname: van Moorselaar
authors.forename: Fred H
authors.initials: FH
authors.lastname: Menko
authors.affiliation: Department of Pulmonary Diseases, VU University Medical Center, PO Box 7057, 1007, MB Amsterdam, The Netherlands. pe.postmus@vumc.nl.
authors.forename: Pieter E
authors.initials: PE
authors.lastname: Postmus
mesh_terms: D000293:Adolescent; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D009154:Mutation; D011030:Pneumothorax / Q000000981:diagnostic imaging / Q000209:etiology*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011859:Radiography; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins