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

doi:10.4168/aard.2015.3.3.232

Journal List > Allergy Asthma Respir Dis > v.3(3) > 1059105

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Kim, Park, Kim, Kim, Park, Park, Lee, Choi, and Lee: Birt-Hogg-Dubé syndrome incidentally diagnosed during asthma management

Case Report

Allergy, Asthma & Respiratory Disease 2015; 3(3): 232-235.

Published online: 29 May 2015

DOI: https://doi.org/10.4168/aard.2015.3.3.232

Birt-Hogg-Dubé syndrome incidentally diagnosed during asthma management

Jun Ho Kim¹, Kyung Hee Park^1,², Dong Hyun Kim¹, Young Joo Kim¹, Jung-Won Park^1,², Hye Jung Park^1,², Jin-Sung Lee³, Jong Rak Choi⁴, Jae-Hyun Lee^1,²

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, jhleemd@yuhs.ac

Received 23 March 2015 Revised 8 April 2015 Accepted 16 April 2015

(open-access):

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/).

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

Figures and Tables

Fig. 1

High resolution computed tomography of chest reveals multiple lung cysts.

Fig. 2

FLCN gene analysis revealed gene mutation at exon 11 on chromosome 17.

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ORCID iDs: Jae-Hyun Lee
https://orcid.org/http://orcid.org/0000-0002-0760-0071
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