Birt-Hogg-Dubé syndrome incidentally diagnosed during asthma management

Kim, Jun Ho; Park, Kyung Hee; Kim, Dong Hyun; Kim, Young Joo; Park, Jung-Won; Park, Hye Jung; Lee, Jin-Sung; Choi, Jong Rak; Lee, Jae-Hyun

doi:10.4168/aard.2015.3.3.232

Case Report

Open Access


Allergy Asthma Respir Dis. 2015 May;3(3):232-235. Korean. Published online May 29, 2015. https://doi.org/10.4168/aard.2015.3.3.232
© 2015 The Korean Academy of Pediatric Allergy and Respiratory Disease; The Korean Academy of Asthma, Allergy and Clinical Immunology


Birt-Hogg-Dubé syndrome incidentally diagnosed during asthma management
Jun Ho Kim,¹ Kyung Hee Park,¹^,² Dong Hyun Kim,¹ Young Joo Kim,¹ Jung-Won Park,¹^,² Hye Jung Park,¹^,² Jin-Sung Lee,³ Jong Rak Choi,⁴ and Jae-Hyun Lee¹^,²
¹Division of Allergy and Immunology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
²Institute of Allergy, Yonsei University College of Medicine, Seoul, Korea.
³Division of Clinical Genetics, Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
⁴Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Correspondence to: Jae-Hyun Lee. Division of Allergy and Immunology, Department of Internal Medicine, Institute of Allergy, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Korea. Tel: +82-2-2228-1987, Fax: +82-2-393-6884, Email: jhleemd@yuhs.ac

Received March 23, 2015; Revised April 08, 2015; Accepted April 16, 2015.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/).

Go to: Abstract
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant hereditary disorder characterized by 3 clinical manifestations, including skin fibrofolliculomas, multiple pulmonary cysts with or without spontaneous pneumothorax, and spontaneous renal tumor. A 60-year-old Korean male who had suffered from bronchial asthma incidentally diagnosed with multiple pulmonary cysts by computed tomography during a regular follow-up. Genetic studies revealed folliculin gene mutation that was a confirmative finding of BHD syndrome. Although this case showed no cutaneous manifestations or renal abnormality, genetic studies of his family and regular follow-up are recommended.


Keywords: Birt-Hogg-Dubé syndrome; Human FLCN protein; Kidney neoplasms; Asthma

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Figures


	Fig. 1 High resolution computed tomography of chest reveals multiple lung cysts.
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	Fig. 2 FLCN gene analysis revealed gene mutation at exon 11 on chromosome 17.
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