ArticlePloS one2017
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Birt-Hogg-Dubé syndrome.Nature reviews. Disease primers · 2026Review
- Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm.Insights into imaging · 2025Article
- Features of Lung Cyst in Birt-Hogg-Dubé Syndrome from Patients with Multiple Lung Cysts.Tuberculosis and respiratory diseases · 2025Article
- Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.Diagnostics (Basel, Switzerland) · 2023Article
- Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation.Diagnostics (Basel, Switzerland) · 2023Article
- Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.BMC pulmonary medicine · 2022Article
- Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.BMC medical imaging · 2022Article
- Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.International journal of general medicine · 2022Review
- Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.Orphanet journal of rare diseases · 2021Review
- Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly.Frontiers in genetics · 2021Article
- Birt-Hogg-Dubé syndrome.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases.Orphanet journal of rare diseases · 2020Article
- FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome.Thorax · 2020Article
- Response to comment on "Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up".The Korean journal of internal medicine · 2020Article
- Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.The Korean journal of internal medicine · 2019Article
- Performance of sparse-view CT reconstruction with multi-directional gradient operators.PloS one · 2019Article
- Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.BMC medical genetics · 2018Article
- Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.BMC medical genetics · 2018Article
- Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.Diagnostic and interventional radiology (Ankara, Turkey)Review
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBirt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN) and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to evaluate further the characteristics of BHD in Korea.
methodsWe prospectively checked and reviewed the chest CT scans obtained for 10,883 patients at Gangnam Severance Hospital, Seoul, Korea, from June 1, 2015 to May 31, 2016. Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. We analyzed the characteristics of the patients confirmed to have BHD and those for a further 6 patients who had previously been described in Korea.
resultsSix (0.06%) of the 10,883 patients reviewed were diagnosed with BHD. There was no difference in demographic or clinical features between the patients with BHD (n = 6) and those without BHD (n = 11). Pneumothorax was present in 50% of the patients with BHD but typical skin and renal lesions were absent. The maximum size of the cysts in the BHD group (median 39.4 mm; interquartile range [IQR] 11.4 mm) was significantly larger than that in the non-BHD group (median 15.8 mm; IQR 7.8 mm; P = 0.001). Variable morphology was seen in 100.0% of the cysts in the BHD group but in only 18.2% of the cysts in the non-BHD group (P = 0.002). Nine (95%) of the total of 12 Korean patients with BHD had experienced pneumothorax. Typical skin and renal lesions were present in 20.0% of patients with BHD.
conclusionsOur findings suggest that BHD can be detected if chest CT scans are read in detail.
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