Aline Amaral Dal Sasso1, Luciana Camara Belém2, Gláucia Zanetti3, Carolina Althoff Souza4, Dante Luiz Escuissato5, Klaus Loureiro Irion6, Marcos Duarte Guimarães7, Edson Marchiori8. 1. Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: aline_sasso@hotmail.com. 2. Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: lubelem@globo.com. 3. Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: glauciazanetti@gmail.com. 4. The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada. Electronic address: csouza@ottawahospital.on.ca. 5. Federal University of Paraná, Curitiba, Brazil. Electronic address: dante.escuissato@gmail.com. 6. Liverpool Heart and Chest Hospital and the Royal Liverpool University Hospital NHS Trusts, Liverpool, United Kingdom. Electronic address: klaus.irion@btinternet.com. 7. A.C. Camargo Cancer Center, São Paulo, Brazil. Electronic address: marcosduarte500@gmail.com. 8. Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: edmarchiori@gmail.com.
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.
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: Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby Journal: Am J Respir Crit Care Med Date: 2019-06-01 Impact factor: 21.405
Authors: Felipe Mussi von Ranke; Gláucia Zanetti; Jorge Luiz Pereira e Silva; Cesar Augusto Araujo Neto; Myrna C B Godoy; Carolina A Souza; Alexandre Dias Mançano; Arthur Soares Souza; Dante Luiz Escuissato; Bruno Hochhegger; Edson Marchiori Journal: Lung Date: 2015-06-24 Impact factor: 2.584
Authors: Jesper Rømhild Davidsen; Elisabeth Bendstrup; Daniel P Henriksen; Ole Graumann; Christian B Laursen Journal: Eur Clin Respir J Date: 2017-01-01