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Definition of Birt-Hogg-Dube syndrome

Birt-Hogg-Dube syndrome: An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. These tumors are called fibrofolliculomas. Other characteristic skin abnormalities are trichodiscomas and acrochordons. A trichodiscoma is a tumor of the hair disc while an acrochordon is a skin tag. People with this syndrome are at increased risk for developing colon or kidney cancer as well as spontaneous pneumothorax due to lung cysts.

The Birt-Hogg-Dube syndrome is inherited in an autosomal dominant manner and is due to mutation in the gene on chromosome 17 encoding a protein called folliculin. The disorder is also known as Birt Hogg Dube syndrome, Birt-Hogg-Dube syndrome, and fibrofolliculomas with trichodiscomas and acrochordons.


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Reviewed on 9/7/2018

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