Birt-Hogg-Dube syndrome incidentally diagnosed during asthma management.
10.4168/aard.2015.3.3.232
- Author:
Jun Ho KIM
1
;
Kyung Hee PARK
;
Dong Hyun KIM
;
Young Joo KIM
;
Jung Won PARK
;
Hye Jung PARK
;
Jin Sung LEE
;
Jong Rak CHOI
;
Jae Hyun LEE
Author Information
1. Division of Allergy and Immunology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea. jhleemd@yuhs.ac
- Publication Type:Case Report
- Keywords:
Birt-Hogg-Dube syndrome;
Human FLCN protein;
Kidney neoplasms;
Asthma
- MeSH:
Asthma*;
Birt-Hogg-Dube Syndrome*;
Estrone;
Follow-Up Studies;
Humans;
Kidney Neoplasms;
Male;
Middle Aged;
Pneumothorax;
Skin
- From:Allergy, Asthma & Respiratory Disease
2015;3(3):232-235
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Birt-Hogg-Dube (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.
