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Allergy, Asthma & Respiratory Disease ; : 232-235, 2015.
Article in Korean | WPRIM | ID: wpr-102765

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.


Subject(s)
Humans , Male , Middle Aged , Asthma , Birt-Hogg-Dube Syndrome , Estrone , Follow-Up Studies , Kidney Neoplasms , Pneumothorax , Skin
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