Recurrent Pneumothoraxes From Rare Birt-Hogg-Dube Syndrome

Abstract

Birt-Hogg-Dubé syndrome (BHD) or Hornstein-Knickenberg syndrome is a rare autosomal dominant inherited syndrome. It is caused by the mutation in the folliculin coding gene (FLCN). The condition manifests as cystic lung disease presenting with spontaneous pneumothoraces. It predisposes to skin lesions such as fibrofolliculomas in the head and neck region. The most serious consequence is renal cell carcinoma.