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Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans

Authors
 Hye Jung Park  ;  Chul Hwan Park  ;  Sang Eun Lee  ;  Geun Dong Lee  ;  Min Kwang Byun  ;  Sungsoo Lee  ;  Kyung-A Lee  ;  Tae Hoon Kim  ;  Seong Han Kim  ;  Seo Yeon Yang  ;  Hyung Jung Kim  ;  Chul Min Ahn 
Citation
 PLOS ONE, Vol.12(2) : e0170713, 2017 
Journal Title
PLOS ONE
Issue Date
2017
MeSH
Birt-Hogg-Dube Syndrome/complications ; Birt-Hogg-Dube Syndrome/diagnosis* ; Birt-Hogg-Dube Syndrome/diagnostic imaging* ; Birt-Hogg-Dube Syndrome/genetics ; Female ; Humans ; Male ; Middle Aged ; Pneumothorax/complications ; Pneumothorax/diagnosis* ; Pneumothorax/diagnostic imaging ; Prospective Studies ; Proto-Oncogene Proteins/genetics ; Republic of Korea ; Respiratory Function Tests ; Thorax/diagnostic imaging* ; Thorax/pathology ; Tomography, X-Ray Computed ; Tumor Suppressor Proteins/genetics
Abstract
PURPOSE: Birt-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.

METHODS: We 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.

RESULTS: Six (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.

CONCLUSIONS: Our findings suggest that BHD can be detected if chest CT scans are read in detail.
Files in This Item:
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DOI
10.1371/journal.pone.0170713
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Thoracic and Cardiovascular Surgery (흉부외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seong Han(김성한)
Kim, Tae Hoon(김태훈) ORCID logo https://orcid.org/0000-0003-3598-2529
Kim, Hyung Jung(김형중) ORCID logo https://orcid.org/0000-0003-2498-0683
Park, Chul Hwan(박철환) ORCID logo https://orcid.org/0000-0002-0004-9475
Park, Hye Jung(박혜정) ORCID logo https://orcid.org/0000-0002-1862-1003
Byun, Min Kwang(변민광) ORCID logo https://orcid.org/0000-0003-1525-1745
Ahn, Chul Min(안철민)
Yang, Seo Yeon(양서연)
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Geun Dong(이근동)
Lee, Sang Eun(이상은) ORCID logo https://orcid.org/0000-0003-4720-9955
Lee, Sung Soo(이성수) ORCID logo https://orcid.org/0000-0001-8998-9510
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154019
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