Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
1 Department of Health Science Research, Mayo Clinic Arizona
2 Department of Otolaryngology
3 Department of Laboratory Medicine and Pathology
4 Department of Dermatology, Mayo Clinic Rochester
Hereditary Cancer in Clinical Practice 2012, 10:13 doi:10.1186/1897-4287-10-13Published: 10 October 2012
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.