Abstract

Background: Birt-Hogg-Dube syndrome (BHDS), also known as Hornstein–Knickenberg syndrome is a rare, autosomal dominant genetic disorder characterized by a triad of clinical manifestations: skin fibrofolliculomas, renal tumors, and multiple pulmonary cysts. The exact incidence of BHDS syndrome is unknown. This hereditary syndrome is caused by mutations in the folliculin (FLCN) gene, located on chromosome 17p11.2, which encodes the folliculin protein. Objective: This case report aims to highlight the importance of increased vigilance and long-term follow-up in BHDS patients, even decades after surgical intervention, to detect and manage potential pulmonary complications effectively. Case presentation: We present a unique case of spontaneous pneumothorax recurrence in a 63-year-old patient with a history of Birt-Hogg-Dube syndrome. The patient had undergone surgical treatment for pneumothorax 30 years ago and remained asymptomatic until presenting to our clinic with acute dyspnea and a dry cough. A recurrent pneumothorax was diagnosed and treated with a chest tube. Further chest imaging revealed extensive ground-glass opacities and cysts in both lungs. The patient was diagnosed with active pneumonia. A conservative approach was adopted due to the pneumonia diagnosis, and the patient showed a successful recovery without pneumothorax recurrence. Conclusion: This case highlights the importance of long-term follow-up in patients with Birt-Hogg-Dube syndrome and previous pneumothorax episodes.

Key words: Spontaneous pneumothorax, pneumothorax recurrence, Birt-Hogg-Dube syndrome.