Renal Cell Tumor and Cystic Lung Disease: A Genetic Link for Generalists to Be Aware of

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant condition characterized by multiple pulmonary cysts, fibrofolliculomas, and renal cell carcinoma. The typical presentations leading to diagnosis include fibrofolliculomas and spontaneous pneumothoraxes. We present a case of a 52-year-old Chinese male who was diagnosed with BHDS after the incidental pickup of an echogenic heterogenous lesion on an abdominal ultrasound done to investigate an abnormal liver function test. The presence of renal cell carcinoma with cystic pulmonary disease should prompt the clinician to consider the diagnosis of BHDS. Knowledge of extrapulmonary findings of common cystic lung diseases may contribute to improved diagnosis of this condition.