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A 32-Year-Old Woman With Dyspnea, Lung Cysts, and Previous PneumothoracesA 32-Year-Old Woman With Dyspnea and Lung Cysts

Todd M. Kolb, MD, PhD; Landon S. King, MD; David B. Pearse, MD
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From the Division of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.

Correspondence to: Todd M. Kolb, MD, PhD, Division of Pulmonary and Critical Care Medicine, Johns Hopkins University, Johns Hopkins Asthma and Allergy Center, 5501 Hopkins Bayview Circle, Baltimore, MD 21224-6801; e-mail: toddkolb@jhmi.edu


Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.


Chest. 2013;144(6):1964-1968. doi:10.1378/chest.13-0902
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National Institutes of Health Clinical Center. Genetic analysis of Birt-Hogg-Dube syndrome and characterization of predisposition to kidney cancer. NCT00033137. ClinicalTrials.gov. Bethesda, MD: National Institutes of Health; 2002. http://clinicaltrials.gov/ct2/show/NCT00033137. Updated July 9, 2013.ZbarBAlvordWGGlennG. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev. 2002;11(4):393-400.ToroJRPautlerSEStewartL. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med. 2007;175(10):1044-1053.ToroJRWeiM-HGlennGM. 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. 2008;45(6):321-331.MenkoFHvan SteenselMAMGiraudS; European BHD Consortium. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10(12):1199-1206.KunogiMKuriharaMIkegamiTS. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet. 2010;47(4):281-287.TobinoKHiraiTJohkohT. Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. Eur J Radiol. 2012;81(6):1340-1346.FuruyaMNakataniY. Birt-Hogg-Dube syndrome: Clinicopathological features of the lung. J Clin Pathol. 2013;66(3):178-186.

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