Abstract
Case. A 33-year-old male nonsmoker presented with sudden onset of dyspnoea and thoracic pain. Chest radiograph showed a left-sided pneumothorax. Few days later he developed a right-sided pneumothorax. He had a positive family history of pneumothorax. High-resolution computed tomography of the chest showed multiple pulmonary cysts predominantly located in the lower lung regions. We suspected Birt-Hogg-Dubé syndrome (BHD). Conclusion. Birt-Hogg-Dubé syndrome is a rare autosomal dominant inherited genodermatosis and characterised by clinical manifestations including hamartomas of the skin, renal tumors, and pulmonary cysts with spontaneous pneumothorax. BHD is probably underdiagnosed because of the wide variability in its clinical expression. It is important to recognize these patients because of the possibility of developing renal cancer.
Highlights
A 33-year-old male nonsmoker presented with sudden onset of dyspnoea and thoracic pain
High-resolution computed tomography of the chest showed multiple pulmonary cysts predominantly located in the lower lung regions
Radiological investigation by high-resolution computed tomography of the chest after bullectomy showed multiple pulmonary cysts predominantly located in the lower lung regions (Figure 2)
Summary
Birt-Hogg-Dubesyndrome is a rare autosomal dominant inherited genodermatosis and characterised by clinical manifestations including hamartomas of the skin, renal tumors, and pulmonary cysts with spontaneous pneumothorax. There was seen a big bulla in the left lung top For this reason, patient received a thoraxdrain, followed by surgical intervention with a bullectomy and pleurectomy. Patient received a thoraxdrain, followed by surgical intervention with a bullectomy and pleurectomy Few days later, he had a right-sided pneumothorax. Radiological investigation by high-resolution computed tomography of the chest after bullectomy showed multiple pulmonary cysts predominantly located in the lower lung regions (Figure 2). Positive family history, and pulmonary cysts, we suspected Birt-Hogg-Dubesyndrome (BHD). Birt-Hogg-Dubesyndrome is a rare autosomal dominant inherited genodermatosis and characterised by clinical manifestations including hamartomas of the skin (fibrofolliculomas, trichodiscomas, acrochordons, etc.), renal tumours, and pulmonary cysts with spontaneous pneumothorax. BHD-associated renal cancer shares general features with other types
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
