ArticleRespirology case reports2026
An Underrecognized Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dubé Syndrome With Isolated Pulmonary Manifestation.
Article in Respirology case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder characterized by a classic triad of cutaneous fibrofolliculomas, bilateral pulmonary cysts and renal tumours. Pulmonary manifestations may occur in isolation, posing a significant diagnostic challenge. We report a 50-year-old non-smoking woman with recurrent pneumothorax referred to our pulmonology clinic for dyspnoea on exertion. Chest CT revealed multiple bilateral pulmonary cysts with lower-lobe predominance. Review of prior wedge resection specimens showed subpleural and parenchymal cysts lined by flattened epithelium. Negative immunohistochemical staining for HMB-45 and GPNMB excluded lymphangioleiomyomatosis. Given the characteristic cyst pattern, germline whole-exome sequencing identified a pathogenic heterozygous FLCN frameshift variant, confirming the diagnosis. Because of the lifetime risk of renal malignancy, early recognition is important and genetic testing is recommended when BHD is suspected.
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