PMC9619165_01
Axial chest CT images. (A)(B)(C) Chest CT scans of the initial spontaneous pneumothorax of the left lung in 2012. (D)(E)(F) Chest CT scans of the proband six years after her second diagnosis as spontaneous left pneumothorax. In comparison with the previous CT findings, slightly larger, multiple, thin-walled cysts are observed in both lungs, suggesting multicystic lung disease.
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Chest CT scans also revealed variable multiple cysts that had increased in both number and size compared with the ones observed six years ago, along with the added complication of left lung pneumothorax (Fig. 1).
Histopathological results. Histopathological examination of the lung specimen revealed multiple small cystic lung lesions in the subpleura and intra-parenchyma ((A): Hematoxylin and eosin stain, original magnification 6 x ). Although the cyst wall showed focal fibrosis and mild chronic inflammation, abnormal spindle cell proliferation suggestive of lymphangioleiomyomatosis was absent ((B): Hematoxylin and eosin stain, original magnification 100 x ).
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Histopathological examination showed multiple, small cysts in the subpleural and intra-parenchymal areas (Fig. 2).
Family Pedigree. The patient's pedigree for a history of pneumothorax; proband indicated by the arrow. Novel FLCN gene mutation in intron 7, c.779+2T > C heterozygous, was identified in the patient (III-8) and her mother (II-4) and aunt (II-5). Gene identification was not performed for her sister (III-9).  , female without pneumothorax  , female with pneumothorax  , male without pneumothorax  , male with pneumothorax.
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Careful consideration of the patient's family history with recurrent pneumothorax suggested the possibility of BHD syndrome (Fig. 3), and genetic testing was initiated after obtaining the patient's consent.