Birt-Hogg-Dube (BHD) syndrome is a rare complex genetic skin disorder (genodermatosis) characterized by the development of benign skin tumors (hamartomas) affecting the head, face and upper torso. These benign tumors are fibrofolliculomas, tumors of the hair follicles. BHD syndrome also predisposed individuals to the development of benign cysts in the lungs, repeated episodes of a collapsed lung (pneumothorax), and increased risk for developing renal neoplasia. BHD syndrome is caused by mutations in the BHD gene and is inherited as an autosomal dominant trait.
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