title: Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.
abstract: BACKGROUND
  Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein.
  
  
  METHODS
  We reviewed currently published literature on the main characteristics of BHDS.
  
  
  RESULTS
  Pulmonary cysts and spontaneous pneumothorax are often the presenting manifestations that lead to a final diagnosis in family members affected by the syndrome.
  
  
  CONCLUSIONS
  Certain imaging characteristics of pulmonary cysts, including size and location, can suggest the diagnosis of BHDS based on chest computed tomography alone. The main concern in patients with BHDS is the increased risk of renal carcinoma. The aim of this review is to describe the main pathological, clinical, and imaging aspects of BHDS, ranging from its genetic basis to treatment, with emphasis on pulmonary involvement.
authors.affiliation: Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: aline_sasso@hotmail.com.
authors.forename: Aline Amaral
authors.initials: AA
authors.lastname: Dal Sasso
authors.affiliation: Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: lubelem@globo.com.
authors.forename: Luciana Camara
authors.initials: LC
authors.lastname: Belém
authors.affiliation: Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: glauciazanetti@gmail.com.
authors.forename: Gláucia
authors.initials: G
authors.lastname: Zanetti
authors.affiliation: The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada. Electronic address: csouza@ottawahospital.on.ca.
authors.forename: Carolina Althoff
authors.initials: CA
authors.lastname: Souza
authors.affiliation: Federal University of Paraná, Curitiba, Brazil. Electronic address: dante.escuissato@gmail.com.
authors.forename: Dante Luiz
authors.initials: DL
authors.lastname: Escuissato
authors.affiliation: Liverpool Heart and Chest Hospital and the Royal Liverpool University Hospital NHS Trusts, Liverpool, United Kingdom. Electronic address: klaus.irion@btinternet.com.
authors.forename: Klaus Loureiro
authors.initials: KL
authors.lastname: Irion
authors.affiliation: A.C. Camargo Cancer Center, São Paulo, Brazil. Electronic address: marcosduarte500@gmail.com.
authors.forename: Marcos Duarte
authors.initials: MD
authors.lastname: Guimarães
authors.affiliation: Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: edmarchiori@gmail.com.
authors.forename: Edson
authors.initials: E
authors.lastname: Marchiori
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D001994:Bronchogenic Cyst / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D003937:Diagnosis, Differential; D005091:Exons; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009154:Mutation; D010641:Phenotype; D011030:Pneumothorax / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D015415:Biomarkers; C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
keywords: Birt-Hogg-Dubé; Computed tomography; Imaging; Lung diseases