대한흉부영상의학회 Korean Society of Thoracic Radiology

Discussion

Diagnosis With Brief Discussion

Lab

FLCN gene (17p11.2) mutation (+)

Chief Complaint

Chronic cough

Definitive Diagnosis

Birt-Hogg-Dube Syndrome

Past History

Recurrent pneumothorax

Reviewy

Rare autosomal dominant multiorgan systemic disorder
Characteristics
Cutaneous fibrofolliculomas (90%)
Multiple lung cysts (84-88%)
Renal tumor (34-49%) : Benign oncocytoma to RCC
Etiology
Germline mutation in FLCN gene(folliculin tumor suppressor gene, chromosome 17p11.2)
Radiologic finding
Multiple thin-walled cysts
Usually bilateral involvement
Lower lung, medial predominance, CPA involvement
Commonly subpleural and fissural cysts
Vary in size, often large
Vary in shape, round, oval, lenticular, irregular, multiseptated
Pneumothorax (35%)

DDx with LAM
LAM: More uniform in size, round, diffuse in distribution
Decreased PFT (BHD: near normal PFT)

Keywords