Sources

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Toro et al., 2007. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med, 175 (10), 1044-53 [PMID: 17322109] [BHD Article Library]

Houweling et al., 2011. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer, 105 (12), 1912-9 [PMID: 22146830] [BHD Article Library]

Lung cysts

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Kumasaka et al., 2014. Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. Histopathology, 65 (1), 100-10  [PMID: 24393238] [BHD Article Library]

Tobino et al., 2011. Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol, 77 (3), 403-9 [PMID: 19782489]

Johannesma et al., 2014. The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19 (8), 1248-50 [PMID: 25302759]

Spontaneous pneumothorax

Postmus et al., 2014. In-Flight Pneumothorax: Diagnosis may be missed because of symptom delay. American journal of respiratory and critical care medicine, 190 (6), 704-5 [PMID: 25221882]

Kumasaka et al., 2014. Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. Histopathology, 65 (1), 100-10  [PMID: 24393238] [BHD Article Library]

Johannesma et al., 2014. The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19 (8), 1248-50 [PMID: 25302759]

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Houweling et al., 2011. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer, 105 (12), 1912-9 [PMID: 22146830] [BHD Article Library]

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Bessis et al., 2006. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol, 155 (5), 1067-9 [PMID: 17034545]

Gunji et al., 2007. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet, 44 (9), 588-93 [PMID: 17496196] [BHD Article Library]

Johannesma et al., 2014. Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 14 [PMID: 24994497] [BHD Article Library]

Kunogi Okura et al., 2013. Pneumothorax Developing for the First Time in a 73-year-old Woman Diagnosed with Birt-Hogg-Dubé Syndrome. Inter Med, 52 (21), 2453-5 [PMID: 24190151] [BHD Article Library]

Links:

Pneumothorax (NHS Berkshire): http://www.royalberkshire.nhs.uk/patient-information-leaflets/pneumothorax-august-2013.htm

Signs and symptoms of a collapsed lung

Links:

Pneumothorax (NHS Berkshire): http://www.royalberkshire.nhs.uk/patient-information-leaflets/pneumothorax-august-2013.htm

Pneumothorax (Patient.co.uk): http://www.patient.co.uk/health/pneumothorax-leaflet

Diagnosis

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Links:

Pneumothorax (NHS Berkshire): http://www.royalberkshire.nhs.uk/patient-information-leaflets/pneumothorax-august-2013.htm

Pneumothorax (Patient.co.uk): http://www.patient.co.uk/health/pneumothorax-leaflet

Treatment overview

Johannesma et al., 2014. The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19 (8), 1248-50 [PMID: 25302759]

Treatments

Johannesma et al., 2014. The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19 (8), 1248-50 [PMID: 25302759]

Links:

Thoracostomy (Wikipedia): http://en.wikipedia.org/wiki/Thoracostomy

Pleurectomy and pleurodesis (NHS leaflet): www.nuh.nhs.uk/handlers/downloads.ashx?id=17423

Surgical techniques

Links:

Pleurectomy and pleurodesis (NHS leaflet): www.nuh.nhs.uk/handlers/downloads.ashx?id=17423

Things to consider if you have BHD

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Partridge et al., 1997. Sports-related pneumothorax. Annals of emergency medicine, 30 (4), 539-41 [PMID: 9326870]

Postmus et al., 2014. In-Flight Pneumothorax: Diagnosis may be missed because of symptom delay. American journal of respiratory and critical care medicine, 190 (6), 704-5 [PMID: 25221882]

Other causes of lung cysts and pneumothorax

Alifano, 2010. Catamenial pneumothorax. Current opinion in pulmonary medicine, 16 (4), 381-6 [PMID: 20473170]

Links:

Pneumothorax risk factors (Mayo clinic website): http://www.mayoclinic.org/diseases-conditions/pneumothorax/basics/risk-factors/con-20030025

Alpha1 antitrypsin deficiency (Patient.co.uk): http://www.patient.co.uk/doctor/alpha-1-antitrypsin-deficiency

COPD (NHS website): http://www.nhs.uk/conditions/chronic-obstructive-pulmonary-disease/Pages/Introduction.aspx#close

Cystic Fibrosis (NHS website): http://www.nhs.uk/conditions/Cystic-fibrosis/Pages/Introduction.aspx

Ehlers Danlos Syndrome (NHS website): http://www.nhs.uk/conditions/ehlers-danlos-syndrome/Pages/Introduction.aspx

LAM (The LAM Foundation website): http://www.thelamfoundation.org/what-is-lam

Pulmonary Langerhan Cell Histiocytosis (Genetics Home Reference website): http://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis

Marfan Syndrome (NHS website): http://www.nhs.uk/conditions/marfan-syndrome/pages/introduction.aspx

 
Publication date: December 2014
Review date: December 2017