A Case Requiring a Multidisciplinary Approach: Birt-Hogg-Dube Syndrome

Birt-Hogg-Dub Syndrome (BHDS) is characterized by benign cutaneous lesions in the head and neck region, pulmonary cysts or spontaneous pneumothorax.It is a rare disorder associated with a mutation in the folliculin (FLCN) gene.A 53-year-old male patient who presented with exertional dyspnea was identified with multiple cystic lesions in a computed tomography (CT) scan, as well as pneumothorax in the right lung.The patient presented again 2 years later complaining of left-side chest pain, and left-sided pneumothorax was identified on imaging.The patient had 2-3 mm papules on his shoulders, cheeks and forehead, and a pathological examination confirmed a diagnosis of trichodiscoma.The patient, who had bullous lung disease, trichodiscoma and a positive FLCN gene sequencing result, was diagnosed with BHDS.We share this case to emphasize the need to consider BHDS in the differential diagnosis of rare cystic lung diseases in patients presenting with recurrent pneumothorax and distinctive cutaneous findings.