Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.
OBJECTIVE
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.
Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Hye Jung
HJ
Park
Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Chul Hwan
CH
Park
Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Sang Eun
SE
Lee
Department of Thoracic and Cardiovascular Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Geun Dong
GD
Lee
Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Min Kwang
MK
Byun
Department of Thoracic and Cardiovascular Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Sungsoo
S
Lee
Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Kyung-A
KA
Lee
Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Tae Hoon
TH
Kim
Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Seong Han
SH
Kim
Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Seo Yeon
SY
Yang
Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Hyung Jung
HJ
Kim
Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Chul Min
CM
Ahn
D058249:Birt-Hogg-Dube Syndrome / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011030:Pneumothorax / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011446:Prospective Studies; D011518:Proto-Oncogene Proteins / Q000235:genetics; D056910:Republic of Korea; D012129:Respiratory Function Tests; D013909:Thorax / Q000000981:diagnostic imaging* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins