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

doi:10.4168/aard.2015.3.3.232

Birt-Hogg-Dube syndrome incidentally diagnosed during asthma management.

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

Affiliations

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Keywords

Birt-Hogg-Dube syndrome; Human FLCN protein; Kidney neoplasms; Asthma

Country

Republic 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.