Role of Radiologists in the Diagnosis of Unsuspected Birt-Hogg-Dubé Syndrome in a Tertiary Clinical Practice

Abstract

Radiologists have a unique opportunity to suggest BHD syndrome, allowing appropriate genetic testing, screening, and counseling of patients and their families. Clinical presentation, including a history of pneumothorax and involvement of both the lungs and kidneys on imaging, may determine which patients are ultimately referred for genetic evaluation. We hope that increasing awareness that BHD syndrome is not so rare may lead to early diagnosis.