Spontaneous Pneumothorax in Birt-Hogg-Dube′ Syndrome: Two Case Reports : Birt-Hogg-Dube′증후군에서 나타난 자발성 기흉: 2 증례
Spontaneous Pneumothorax in Birt-Hogg-Dube′ Syndrome: Two Case
- 주제(키워드) Lung , Cysts , Pneumothorax
- 발행기관 대한영상의학회
- 발행년도 2011
- 총서유형 Journal
- UCI G704-000499.2011.64.1.001
- KCI ID ART001515370
- 본문언어 영어
초록/요약
Birt-Hogg-Dube′(BHD) syndrome is a rare autosomal dominant inherited disorder that is characterized by skin fibrofolliculomas, renal tumors and multiple lung cysts with or without spontaneous pneumothorax. The disease is caused by germline mutations in the FLCN gene that codes for a protein of unknown function called folliculin. Patients with BHD syndrome do not always have all three manifestations of the skin, kidney and lung. To the best of our knowledge, there has been no case report of the radiologic findings of the lung manifestation in a patient with BHD syndrome in Korea. We report here on two cases of BHD syndrome that presented with spontaneous pneumothorax. The pulmonary abnormalities consisted of multiple thin-walled cysts of various sizes and shapes in both lungs.
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