Allergy Asthma Respir Dis.  2015 May;3(3):232-235. 10.4168/aard.2015.3.3.232.

Birt-Hogg-Dube syndrome incidentally diagnosed during asthma management

• Kim JH
• Park KH
• Kim DH
• Kim YJ
• Park JW
• Park HJ
• Lee JS
• Choi JR
• Lee JH

• KMID: 2168496
• DOI: http://doi.org/10.4168/aard.2015.3.3.232

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.

Keyword

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

MeSH Terms

Asthma*
Birt-Hogg-Dube Syndrome*
Estrone
Follow-Up Studies
Humans
Kidney Neoplasms
Male
Middle Aged
Pneumothorax
Skin
Estrone

Figure

• 

  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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