Birt Hogg Dube syndrome is a rare autosomal dominant genetic disorder. Recent studies have suggested that it might be underdiagnosed and possibly accountable for 5-10% of apparent primary spontaneous pneumothorax. A deletion mutation in the folliculin (FLCN) gene (a short arm of chromosome 17) that codes for mTOR protein regulation in tumor suppression lead to kidneys, lungs, and skin disorders. Skin hamartomas and fibrofolliculomas are seen with an increased risk of renal neoplasms. Irregularly shaped Lung cysts are seen. Pneumothorax due to rupture of these...

Presented herein is an intricate case study of a 75-year-old female patient who presented with a one-week history of shortness of breath and blood-tinged sputum. The patient had a medical history of end-stage renal disease necessitating dialysis due to acromegaly. Notably, cutaneous findings included angiofibroma, eliciting further clinical investigation. Genetic analysis revealed a deletion mutation in the folliculin (FLCN) gene, confirming the diagnosis of BHD syndrome. Remarkably, the patient's son also exhibited cystic lung changes.

Radiological assessments disclosed the presence of multiple lung cysts and secondary spontaneous pneumothoraces. These lung cysts demonstrated a conspicuous predilection for the lower lung zones. Their morphologies varied from ovoid to lentiform, often featuring septations when enlarged. A characteristic hallmark of BHD syndrome emerged—numerous oval cysts clustered within the para-mediastinal regions. Additionally, the patient exhibited multiple bilateral renal tumors, prominently featuring chromophobe renal cell cancer and oncocytoma. Despite initial clinical indications suggestive of autosomal dominant polycystic kidney disease (ADPKD), radiological evidence aligned more coherently with...

The intricate interplay of radiological findings and clinical data, in this case, exemplifies the critical role of radiologists in the early diagnosis and management of BHD syndrome. Proficiency in identifying the characteristic lung cysts and renal tumors equips radiologists to guide appropriate genetic surveillance and tailored clinical interventions.

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