Medical Definition of Birt-Hogg-Dube syndrome

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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.

Reviewed on 9/7/2018

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