Abstract
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal cancer, pulmonary cysts and spontaneous pneumothorax. We report the diagnosis of a BHD syndrome achieved after incidental radiological finding of a renal tumour in a 24-year old man. The patient also displayed recurrent pneumothoraces and showed to have cysts in the basis of both lungs. The association of recurrent pneumothoraces and renal neoplastic disease should alert for the possible presence of this syndrome.
Highlights
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal cancer, pulmonary cysts and spontaneous pneumothorax
The history of our patient revealed that one month prior to this admission, our patient was treated for a primary left-sided pneumothorax with thoracoscopic pleurectomy and basal bullectomy after chest drainage had failed (Fig. 1D)
Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal tumours of different histological types, pulmonary cysts, and spontaneous pneumothoraces
Summary
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal cancer, pulmonary cysts and spontaneous pneumothorax. Our young patient surprisingly showed a left-sided pneumothorax. Family history revealed that our patients father died at a young age due to renal cancer. Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal tumours of different histological types, pulmonary cysts, and spontaneous pneumothoraces.
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