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BHD commonly accompanies renal tumors, fibrofolliculomas, multiple pulmonary cysts, and spontaneous pneumothorax.
Multiple pulmonary cysts with repeated pneumothorax, renal tumors, and fibrofolliculomas are the three main symptoms of BHD.
When we encounter patients who have experienced repeated pneumothorax, particularly those who have family history of pneumothorax and/or multiple pulmonary cysts throughout the entire lung, we should consider the possibility of BHD and perform the relevant genetic analysis.
In contrast, multiple pulmonary cysts with repeated pneumothorax are seen in approximately 90% of the BHD cases in Japan [5], whereas pneumothorax occurs in only 34% of the BHD cases in Europe and the United States [7].
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease caused by mutations of germline folliculin (FCLN) mapped in the chromosome 17p11.2 region, and it commonly accompanies renal tumors; skin conditions such as fibrofolliculomas, trichodiscoma, and acrochordon; multiple pulmonary cysts; and spontaneous pneumothorax [1-3].
However, it is important to suspect BHD at the time of treatment of pneumothorax patients, particularly when the patient has a family history of pneumothorax, has multiple pulmonary cysts, and experiences repeated pneumothorax, even if fibrofolliculomas are not seen in their skin.
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The patient also had multiple pulmonary air-filled cysts on baseline and follow up PET/CTs, as well as a right recurring pneumothorax.
The cystic pattern in BHD differs from that observed in other lung diseases; In BHD multiple thin-walled pulmonary cysts of various sizes are observed, predominately distributed to the lower medial and subpleural regions of the lung with cysts abutting or including the proximal portion of the lower pulmonary veins or arteries [ 22- 24].
The following points were checked in the studied cases in accordance with the diagnostic criteria proposed by the European BHD Consortium 1: (i) pulmonary cysts; (ii) fibrofolliculomas; (iii) pneumothorax; (iv) familial history of pneumothorax, fibrofolliculoma, and renal tumor; and (v) multiple RCC or hybrid features in histology.
Pulmonary cysts of this tumour also result from pulmonary nodule transformation [32].
Pulmonary cysts should first of all be differentiated from pulmonary cavities because these two entities have very different aetiologies.
Related(14)
multiple pulmonary lesions
multiple pulmonary exacerbations
multiple pulmonary hamartomas
multiple pulmonary disorders
multiple pulmonary metastases
multiple pulmonary resections
multiple pulmonary emboli
multiple pulmonary metastatectomies
multiple pulmonary diseases
multiple pulmonary nodules
multiple pulmonary infiltrates
multiple pulmonary deposits
multiple pulmonary abscesses
multiple renal cysts
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