CRA40 BIRT-HOGG-DUBE SYNDROME: A CASE REPORT

Hui Mei Lim, Wan Yi Leong, Irfhan Ali Hyder Ali, Gaik Siew Ch’ng

Respiratory Department, Hospital Pulau Pinang, Pulau Pinang, Malaysia

INTRODUCTION
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genetic disorder characterized by  distinct cutaneous manifestations, pulmonary cystic disease or a history of spontaneous pneumothorax, and renal cysts or an increased risk of renal carcinoma. It is caused by mutations in the FLCN gene, which encodes the folliculin protein, a tumor suppressor. Due to the variability in clinical presentation, many cases remain undiagnosed or are misdiagnosed, especially when pulmonary symptoms are the predominant or only manifestation.

CASE REPORT
A 32-year-old female presented with two episodes of spontaneous right-sided pneumothorax within a 3-month period. High-resolution computed tomography (HRCT) of the chest revealed multiple cysts of varying sizes scattered throughout both lung fields. She underwent surgical pleurodesis. There were no cutaneous abnormalities, and renal ultrasonography was unremarkable. The patient reported a family history of pneumothorax, affecting her father (a chronic smoker) as well as several aunties and cousins on the paternal side, raising suspicion of a hereditary cystic lung disease. This clinical presentation, in conjunction with the family history, prompted referral to a genetic clinic, where testing confirmed the presence of a pathogenic mutation in the FLCN gene, establishing the diagnosis of BHDS.

DISCUSSION
Early diagnosis and management of suspected BHDS relies heavily on a comprehensive clinical assessment, detailed family history, and a high index of clinical suspicion. Once the diagnosis is confirmed, patients should be enrolled in a lifelong multidisciplinary follow-up program. Periodic renal surveillance imaging is crucial to detect renal tumors at an early stage to reduce the risk of  metastatic renal carcinoma. Genetic counseling and screening are strongly recommended for at-risk individuals. Early identification enables timely intervention and  monitoring to improve overall outcomes.