Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom

• Published in: BMJ case reports Vol. 2018; p. bcr-2017-219979
• Main Authors: Bock, Kirse, Lohse, Zuzana, Madsen, Poul Henning, Hilberg, Ole
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 09.01.2018; BMJ Publishing Group
• Series: Case Report
• Subjects: Adolescent; Age; Birt-Hogg-Dube Syndrome - complications; Brain cancer; Case reports; Chest Pain - genetics; Cysts; Dyspnea - genetics; Europe (West); Family medical history; Female; Gene expression; Humans; Kidney cancer; Kinases; Lungs; Melanoma; Mutation; Patients; Pneumothorax - genetics; Prostate; Proteins; Rare Disease; Surgery; Thoracic surgery; Tumors; White; genetic screening / counselling; screening (oncology); interstitial lung disease
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2017-219979

Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterised by benign cutaneous lesions, lung cysts, increased risk of spontaneous pneumothorax and renal cancer. It shows great heterogenous presentation within and between affected families. We report a case of a Danish female patient with recurrent pneumothoraces as the first symptom of BHDS. Over the years, she developed skin changes, and a family history of skin changes, pneumothoraces and renal cancer was discovered. BHDS was suspected, a genetic analysis was performed and a pathogenic variation c.1285delC in FLCN gene was detected in the patient. As we stated the diagnosis BHDS, we discovered several undiagnosed family members all of them now entering a lifelong follow-up programme with abdominal imaging because of the increased risk of developing renal cancer. BHDS should be known to oncologists, dermatologists and pulmonologists as the patients most often present to these medical disciplines.