Birt-Hogg-Dubé syndrome: a case report and a review of the literature.
Background:Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking.Objective:To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies.Design:Literature review and case story.Results:A PubMed and Embase search identified 330 papers. BHDS is characterized by small benign tumors in the skin, spontaneous pneumothoraces caused by cysts in the lungs and a seven-fold increased risk of renal cancer. A case story of a young female patient presenting with pneumothorax and a family history of recurrent pneumothoraces in many relatives illustrates how the history and the diagnostic work up resulted in a diagnosis of BHDS.Conclusion:BHDS is a rare inherited disorder. In patients with spontaneous pneumothorax or cystic lung disease without any obvious explanation, BHDS should be considered. Concomitant skin manifestations, a family history of familiar pneumothorax, renal cancers and skin manifestations supports the suspicion of BHDS. Early diagnosis is important in order to subject patients to systematic screening for renal cancers. A radiological surveillance strategy for renal cancer is proposed.
Department of Respiratory Diseases and Allergy, Aarhus University Hospital , Aarhus , Denmark.
Dea Kejlberg
DK
Jensen
Institute of Clinical Medicine, Aarhus University , Aarhus , Denmark.
Anders
A
Villumsen
Department of Clinical Genetics, Aarhus University Hospital , Aarhus , Denmark.
Anne-Bine
AB
Skytte
Department of Urology, Aarhus University Hospital , Aarhus , Denmark.
Mia Gebauer
MG
Madsen
Department of Dermatology, Aarhus University Hospital , Aarhus , Denmark.
Mette
0000-0002-6310-4208
M
Sommerlund
Department of Respiratory Diseases and Allergy, Aarhus University Hospital , Aarhus , Denmark.
Elisabeth
0000-0002-4238-6963
E
Bendstrup
Birt–Hogg–Dubé; cysts; fibrofolliculoma; folliculin; pneumothorax; renal cancer