Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors

Abstract

Abstract 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.

Keywords

• Salivary gland
• Oncocytic
• Warthins tumor
• Oncocytosis