Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors.
Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.
Department of Health Science Research, Mayo Clinic Arizona. nlindor@mayo.edu.
Noralane M
NM
Lindor
Jan
J
Kasperbauer
Jean E
JE
Lewis
Mark
M
Pittelkow