Birt-Hogg-Dubé syndrome with renal angiomyolipoma.

A 43-year-old woman who was referred to our clinic had a right-sided pneumothorax, multiple pulmonary cysts and a right renal tumor. The preliminary diagnosis was possible lymphangioleiomyomatosis (LAM). Previously, she had a pneumothorax that recapitulated a similar family history in her son, grandfather and cousin. The patient’s CT images revealed multiple pulmonary cysts with round or irregular shapes predominating in the lower-medial zone of both lungs (Picture 1A) and a right renal tumor containing fat density characteristic of angiomyolipoma (Picture 1D). A surgical lung biopsy contained cysts without LAM cells; subsequent genetic testing revealed a CCACCCT insertion