Research & Literature

FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.

Ding Y, Zhu C, Zou W, et al.

American journal of medical genetics. Part A 2015; (167A(5)):1125-33 doi:10.1002/ajmg.a.36979.

Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis.

Kennedy JC, Khabibullin D, Henske EP

Seminars in cell & developmental biology 2016; (52()):47-52.

Birt-Hogg-Dubé syndrome: a large single family cohort.

Skolnik K, Tsai WH, Dornan K, et al.

Respiratory research 2016; (17()):22 doi:10.1186/s12931-016-0339-2.

A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.

Zhang X, Ma D, Zou W, et al.

Respiratory research 2016; (17(1)):64 doi:10.1186/s12931-016-0377-9.

A Systematic Review of the Respiratory Effects of Inhalational Marijuana.

Martinasek MP, McGrogan JB, Maysonet A

Respiratory care 2016; (61(11)):1543-1551 doi:10.4187/respcare.04846.

Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

Johannesma PC, van de Beek I, van der Wel JW, et al.

SpringerPlus 2016; (5(1)):1506 doi:10.1186/s40064-016-3009-4.

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective.

Gupta N, Langenderfer D, McCormack FX, et al.

Annals of the American Thoracic Society 2017; (14(1)):17-25 doi:10.1513/AnnalsATS.201606-459OC.

Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

Jensen DK, Villumsen A, Skytte AB, et al.

European clinical respiratory journal 2017; (4(1)):1292378 doi:10.1080/20018525.2017.1292378.

Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.

Lee JE, Cha YK, Kim JS, Choi JH

Diagnostic and interventional radiology (Ankara, Turkey) 2017; (23(5)):354-359 doi:10.5152/dir.2017.16606.

Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax.

Xing H, Liu Y, Jiang G, et al.

Journal of thoracic disease 2017; (9(7)):1967-1972 doi:10.21037/jtd.2017.06.69.

The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome.

Gupta S, Kang HC, Ganeshan D, et al.

AJR. American journal of roentgenology 2017; (209(6)):1291-1296 doi:10.2214/AJR.17.18071.

Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.

Geilswijk M, Bendstrup E, Madsen MG, et al.

Molecular genetics & genomic medicine 2018; (6(3)):332-338 doi:10.1002/mgg3.373.

Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.

Sattler EC, Steinlein OK

BMC medical genetics 2018; (19(1)):45 doi:10.1186/s12881-018-0558-0.

Overexpression of matrix metalloproteinase-9 in adolescents with primary spontaneous pneumothorax for surgical intervention.

Chiu CY, Chen TP, Chen JR, et al.

The Journal of thoracic and cardiovascular surgery 2018; (156(6)):2328-2336.e2 doi:10.1016/j.jtcvs.2018.05.083.

A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome.

Karaman E, Ufuk F, Demirci M, Yavaş HG

Turkish thoracic journal 2018; (19(3)):150-152 doi:10.5152/TurkThoracJ.2018.17045.

Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene.

Volk C, Matwiyoff G

Case reports in genetics 2018; (2018()):4173704 doi:10.1155/2018/4173704.

Differentiation Between Lymphangioleiomyomatosis and Birt-Hogg-Dubé Syndrome: Analysis of Pulmonary Cysts on CT Images.

Park HJ, Chae EJ, Do KH, et al.

AJR. American journal of roentgenology 2019; (212(4)):766-772 doi:10.2214/AJR.18.20232.

The Genetics of Pneumothorax.

Boone PM, Scott RM, Marciniak SJ, et al.

American journal of respiratory and critical care medicine 2019; (199(11)):1344-1357 doi:10.1164/rccm.201807-1212CI.

Role of Radiologists in the Diagnosis of Unsuspected Birt-Hogg-Dubé Syndrome in a Tertiary Clinical Practice.

Lee E, Sayyouh M, Haggerty JE, et al.

AJR. American journal of roentgenology 2019; (213(4)):792-797 doi:10.2214/AJR.19.21176.

Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome.

Liu Y, Xing H, Huang Y, et al.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2020; (57(1)):39-45 doi:10.1093/ejcts/ezz171.

The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.

Torricelli E, Occhipinti M, Cavigli E, et al.

Respiration; international review of thoracic diseases 2019; (98(2)):125-132 doi:10.1159/000498973.

Percutaneous thermal ablation for renal cell carcinoma in patients with Birt-Hogg-Dubé syndrome.

Matsui Y, Hiraki T, Gobara H, et al.

Diagnostic and interventional imaging 2019; (100(11)):671-677 doi:10.1016/j.diii.2019.06.009.

Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology.

Kumar K, Ross C

BMJ case reports 2019; (12(9)) doi:10.1136/bcr-2019-231039.

Birt-Hogg-Dubé syndrome caused by a mutation of FLCN gene in a CVST patient: a case report.

Han J, Hao J, Liu R, et al.

The International journal of neuroscience 2020; (130(5)):438-442 doi:10.1080/00207454.2019.1691204.

Expert consensus on spontaneous ventilation video-assisted thoracoscopic surgery in primary spontaneous pneumothorax (Guangzhou).

He J, Liu J, Zhu C, et al.

Annals of translational medicine 2019; (7(20)):518 doi:10.21037/atm.2019.10.08.

New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.

Kennedy JC, Khabibullin D, Boku Y, et al.

Seminars in respiratory and critical care medicine 2020; (41(2)):247-255 doi:10.1055/s-0040-1708500.

Birt-Hogg-Dubé syndrome.

Berger I, Berland S, Rodriguez JR, et al.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke 2020; (140(6)) doi:10.4045/tidsskr.18.0848.

Focus on the pulmonary involvement and genetic patterns in Birt-Hogg-Dubè syndrome: Literature review.

Marziali V, Geropoulos G, Frasca L, et al.

Respiratory medicine 2020; (168()):105995 doi:10.1016/j.rmed.2020.105995.

Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases.

Xu W, Xu Z, Liu Y, et al.

Orphanet journal of rare diseases 2020; (15(1)):176 doi:10.1186/s13023-020-01448-y.

Spontaneous pneumothorax in children.

Goldman RD

Canadian family physician Medecin de famille canadien 2020; (66(10)):737-738.

A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome.

Covello B, Kaufman S, Whittington E, Enrizo O

Radiology case reports 2021; (16(6)):1249-1254 doi:10.1016/j.radcr.2021.02.058.

A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review.

Cai M, Zhang X, Fan L, et al.

Frontiers in genetics 2021; (12()):636900 doi:10.3389/fgene.2021.636900.

Combining clinical, radiological and genetic approaches to pneumothorax management.

Grimes HL, Holden S, Babar J, et al.

Thorax 2022; (77(2)):196-198 doi:10.1136/thoraxjnl-2021-217210.

[Two families with Birt-Hogg-Dubé syndrome:case report and literature review].

Zhan DT, Chen RC, Wang LW

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2022; (45(1)):59-63 doi:10.3760/cma.j.cn112147-20210607-00402.

Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.

Yang J, Hu X, Li J, et al.

BMC medical imaging 2022; (22(1)):22 doi:10.1186/s12880-022-00743-3.

The Mystery of Ehlers-Danlos Syndrome: An Autobiographical Case Report.

Tapasak BE, Malis DJ

Cureus 2022; (14(1)):e21601 doi:10.7759/cureus.21601.

Birt-Hogg-Dubé syndrome: Another mTOR phenomenon.

Shah RR, Lambert WC, Schwartz RA

Clinics in dermatology 2022; (40(6)):700-705 doi:10.1016/j.clindermatol.2022.07.014.

Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.

Sriram JD, van de Beek I, Johannesma PC, et al.

BMC pulmonary medicine 2022; (22(1)):325 doi:10.1186/s12890-022-02107-7.

Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome.

Bodard S, Boudhabhay I, Dariane C, et al.

Cancers 2022; (14(20)) doi:10.3390/cancers14204969.

A novel FLCN gene mutation causing Birt-Hogg-Dubé syndrome in a Korean family.

Bae J, Huh J, Shim SS, et al.

Respiratory medicine case reports 2022; (40()):101757 doi:10.1016/j.rmcr.2022.101757.

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.

Vocke CD, Fleming LR, Piskorski AM, et al.

American journal of medical genetics. Part A 2023; (191(2)):490-497 doi:10.1002/ajmg.a.63049.

Update of penetrance estimates in Birt-Hogg-Dubé syndrome.

Bruinsma FJ, Dowty JG, Win AK, et al.

Journal of medical genetics 2023; (60(4)):317-326 doi:10.1136/jmg-2022-109104.

Chemical Pleurodesis Using Tetracycline for the Management of Postoperative Pneumothorax Recurrence.

Yang JT, Kim S, Kim HS, et al.

Journal of chest surgery 2023; (56(4)):240-243 doi:10.5090/jcs.23.006.

Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.

Park HJ, Choi YJ, Park CH, et al.

Diagnostics (Basel, Switzerland) 2023; (13(12)) doi:10.3390/diagnostics13122047.

Spontaneous Pneumothorax Secondary to Bullous Lung Emphysema Positive for Cannabinoids upon Toxicological Examination.

Bisconti M, De Palma A, Pacifici R, et al.

Journal of clinical medicine 2023; (12(15)) doi:10.3390/jcm12154956.

[Expert consensus on the diagnosis and management of Birt-Hogg-Dubé syndrome].

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Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2023; (46(9)):897-908 doi:10.3760/cma.j.cn112147-20230705-00362.

A Rare Case of Spontaneous Pneumothorax Recurrence 30 Years After Surgery in a Patient with Birt-Hogg-Dube Syndrome: Case Presentation and Short Review of the Literature.

Leivaditis V, Papatriantafyllou A, Koletsis E, et al.

Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH 2023; (31(2)):146-150 doi:10.5455/aim.2023.31.146-150.

Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report.

van Riel L, Kets CM, van Hest LP, et al.

Familial cancer 2024; (23(4)):579-582 doi:10.1007/s10689-024-00408-w.

ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.

Geilswijk M, Genuardi M, Woodward ER, et al.

European journal of human genetics : EJHG 2024; (32(12)):1542-1550 doi:10.1038/s41431-024-01671-2.

Guiding the future of clinical care and clinical research in Birt-Hogg-Dubé.

Alchoueiry M, Lambert WC, Henske EP

European journal of human genetics : EJHG 2024; (32(12)):1522-1523 doi:10.1038/s41431-024-01696-7.

The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.

Zhang Y, Wang Y, Wang J, et al.

Orphanet journal of rare diseases 2025; (20(1)):218 doi:10.1186/s13023-025-03726-z.

Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dubé Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation.

Xu Y, Gao J, An Y, et al.

Human mutation 2025; (2025()):7194418 doi:10.1155/humu/7194418.

Birt-Hogg-Dubé syndrome presenting as recurrent secondary spontaneous pneumothorax: VATS.

Bangeria S, Asaf BB, Bishnoi S, et al.

Indian journal of thoracic and cardiovascular surgery 2025; (41(8)):1092-1095 doi:10.1007/s12055-025-01934-7.

Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm.

Shakur A, Stewart GD, Sadler TJ, et al.

Insights into imaging 2025; (16(1)):169 doi:10.1186/s13244-025-02053-y.

Birt-Hogg-Dubé Syndrome.

Patel TM, Beal MA, Schroeder G, Shifren A

Clinics in chest medicine 2025; (46(4)):619-632 doi:10.1016/j.ccm.2025.07.004.

Birt-Hogg-Dube syndrome: A case report and case study of primary spontaneous pneumothorax caused by folliculin gene mutation.

Shen X, Liao H

Medicine 2025; (104(47)):e46188 doi:10.1097/MD.0000000000046188.

Early Operative Intervention in Primary Spontaneous Pneumothorax for Active-Duty Service Members.

Zhang B, Williams J, Palmerton H, et al.

The Journal of surgical research 2025; (316()):248-253 doi:10.1016/j.jss.2025.10.036.

Asynchronous Bilateral Pneumothorax in a Patient With Birt-Hogg-Dubé Syndrome: A Case Report.

Eleftheriou A, Benakis G, Orfanidou A, et al.

Cureus 2025; (17(11)):e96356 doi:10.7759/cureus.96356.

Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.

Miranda M, Ferreira C, Fernandes M, et al.

Familial cancer 2026; (25(1)):10 doi:10.1007/s10689-025-00527-y.