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Open Access Case report

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

Noralane M Lindor1*, Jan Kasperbauer2, Jean E Lewis3 and Mark Pittelkow4

Author Affiliations

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

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Hereditary Cancer in Clinical Practice 2012, 10:13  doi:10.1186/1897-4287-10-13

Published: 10 October 2012

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