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- W942254130 abstract "症例は58歳,女性.人間ドックで胸部X線写真を撮影し,右自然気胸を指摘された.左自然気胸の手術歴があり,弟,長男,長女にも自然気胸の既往があった.胸部CT検査では両側に多発する肺嚢胞を認めた.顔面に線維毛包腫(fibrofolliculoma)を疑う病変と,線維性疣贅(acrochordon)を認めた.以上の所見から,Birt-Hogg-Dube症候群(以下,BHD症候群)を疑った.右気胸の根治を目的に手術を施行し,肺底部に今回の気胸の原因と思われる2cm大のブラを認め,これを胸腔鏡下に切除した.術後,BHD遺伝子の核酸配列解析を行い,BHD症候群と確定診断した.BHD症候群は,常染色体優性遺伝の皮膚疾患であり,多発肺嚢胞・自然気胸,腎細胞癌を合併することがある.気胸の家族歴があり,多発肺嚢胞を有する症例は,BHD症候群を疑う必要があると考えられた." @default.
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- W942254130 date "2009-01-01" @default.
- W942254130 modified "2023-09-25" @default.
- W942254130 title "A case of Birt-Hogg-Dube syndrome" @default.
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- W942254130 doi "https://doi.org/10.2995/jacsurg.23.807" @default.
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