• Diagn Interv Radiol · Sep 2017

    Review

    Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.

    • Jung Eun Lee, Yoon Ki Cha, Jeung Sook Kim, and Jin Ho Choi.
    • Department of Radiology, Dongguk University Ilsan Hospital, Dongguk University, Gyeonggi-do, Korea. sublime256@naver.com.
    • Diagn Interv Radiol. 2017 Sep 1; 23 (5): 354-359.

    AbstractBirt-Hogg-Dubé (BHD) syndrome is an uncommon, autosomal dominant, multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. Spontaneous pneumothorax and lung cysts on chest computed tomography (CT) should lead to the inclusion of BHD syndrome in the differential diagnosis, because these findings may develop earlier than other clinical manifestations. Here, we review and describe the characteristic findings of BHD syndrome. The number, shape, size, and distribution of the lung cysts can help to differentiate BHD syndrome from other diffuse cystic lung diseases. Knowledge of the chest CT findings of BHD syndrome may lead to a correct diagnosis and the initiation of an appropriate work-up in order to prevent pneumothorax and for the early detection of renal tumors.

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