比爾特霍格杜貝症候群 

許淳淵¹、羅浩倫¹、莊鎧豪²

高雄長庚紀念醫院 外科部 ¹泌尿科，²心臟胸腔外科

Birt-Hogg-Dubé syndrome

Chun-Yuan Hsu¹, HL Luo¹, KAI-HAO CHUANG²

Divisions of Urology¹ and Thoracic & Cardiovascular Surgery², Department of Surgery, Kaohsiung Chang Gung Memorial Hospital, Taiwan

Background:

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene on chromosome 17. It is clinically characterized by the presence of cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and an increased risk of renal cell carcinoma and oncocytoma.

Case Presentation:

A 40-year-old man with no significant past medical history presented with a two-week history of gross hematuria. Abdominal sonography performed at a local clinic revealed a right renal mass, prompting referral to our hospital. The patient also reported multiple follicular papules on the forehead, present since childhood. Contrast-enhanced computed tomography (CT) of the chest and abdomen demonstrated bilateral pneumothoraces, a right renal mass measuring 6 cm, and multiple pulmonary cysts (up to 7.4 cm in diameter) in both lungs. 

The patient subsequently underwent robotic-assisted right radical nephrectomy and thoracoscopic wedge resection of the right middle and left lower lung, combined with excision of giant bullae and/or blebs and mechanical pleurodesis during hospitalization. Pathological examination confirmed renal cell carcinoma, not otherwise specified (NOS, pT3aN0). A comprehensive genomic cancer panel later identified a pathogenic FLCN mutation, establishing the diagnosis of Birt-Hogg-Dubé syndrome.  Dermatologic evaluation revealed trichodiscoma on the left cheek and stromal fibrosis on the forehead, confirmed by biopsy. Upon discharge, the patient was referred for family genetic counseling. Follow-up imaging six months later showed no evidence of tumor recurrence, pulmonary cysts, or pneumothorax.

Conclusion:

This case highlights the characteristic clinical features of Birt-Hogg-Dubé syndrome, a rare genetic disorder requiring a multidisciplinary approach. Early recognition of this syndrome is essential for timely diagnosis, appropriate treatment, and prevention of disease-related complications.