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Birt-Hogg-Dubé syndrome

(birt-hog-doo-BAY SIN-drome)
A rare, inherited disorder in which benign (not cancer) skin lesions called fibrofolliculomas form in the hair follicles on the face, neck, and chest. Patients with Birt-Hogg-Dubé syndrome have an increased risk of kidney cancer and benign kidney tumors. They may also have lung cysts and a condition called a pneumothorax, in which all or part of the lung collapses. The signs and symptoms of Birt-Hogg-Dubé syndrome usually do not appear until young adulthood. It is caused by a mutation (change) in a gene called FLCN.
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Drawing showing areas of the body affected by Birt-Hogg-Dube syndrome, including the skin, lungs, and kidneys.Enlarge this image in new window
Areas of the body affected by Birt-Hogg-Dube (BHD) syndrome. BHD syndrome is an inherited disorder that causes an increased risk of kidney cancer, benign (not cancer) skin lesions, collapsed lungs, and lung cysts.
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