³¶Á¾¼º Æóº´º¯À¸·Î ³»¿øÇÏ¿© Áø´ÜµÈ Birt-Hogg-Dube ÁõÈıº 2¿¹
Two Cases of Birt-Hogg-Dube Syndrome with Pulmonary Cysts
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¼¸í¼÷(Seo Myeong-Sook) - ¿ï»ê´ëÇб³ ÀÇ°ú´ëÇÐ ¼¿ï¾Æ»êº´¿ø ³»°ú
ÀÓµÎÈ£(Lim Doo-Ho) - ¿ï»ê´ëÇб³ ÀÇ°ú´ëÇÐ ¼¿ï¾Æ»êº´¿ø ³»°ú
¼ÛÁؼ±(Song Joon-Seon) - ¿ï»ê´ëÇб³ ÀÇ°ú´ëÇÐ ¼¿ï¾Æ»êº´¿ø º´¸®°ú
¹ÚÂù½Ä(Park Chan-Sik) - ¿ï»ê´ëÇб³ ÀÇ°ú´ëÇÐ ¼¿ï¾Æ»êº´¿ø º´¸®°ú
äÀºÁø(Chae Eun-Jin) - ¿ï»ê´ëÇб³ ÀÇ°ú´ëÇÐ ¼¿ï¾Æ»êº´¿ø ¿µ»óÀÇÇаú
¼ÛÁø¿ì(Song Jin-Woo) - ¿ï»ê´ëÇб³ ÀÇ°ú´ëÇÐ ¼¿ï¾Æ»êº´¿ø ³»°ú
Abstract
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal-dominant disease caused by germline folliculin (FLCN) mutations, characterized by fibrofolliculoma or trichodiscoma, renal tumors, and multiple lung cysts with or without spontaneous pneumothorax. Here, we report two cases of BHD syndrome that presented with bilateral pulmonary cysts. One patient was a 39-year-old woman who had a history of pneumothorax, multiple papules on her cheeks, and a family history of the same skin lesions and renal cell carcinoma in her father. BHD syndrome was confirmed by molecular tests that revealed a missense mutation in FLCN gene (exon 4, c.31T > C). The other patient was a 56-year-old man who showed FCLN gene polymorphism and typical radiopathological features of multiple cysts in the lung, but apparently no other manifestation.
Å°¿öµå
Birt-Hogg-Dube syndrome, Pulmonary cyst, Folliculin gene
KMID :
0882420140870040477
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