BHD Foundation

The BHD Foundation is a 501(c)(3) non-profit organization whose mission is to advance and promote research into the medical and molecular genetics of Birt-Hogg-Dub� (BHD) syndrome in order to better understand, diagnose, prevent, cure and relieve conditions caused by this disorder. BHD Foundation also fosters free dissemination of the results of such research to the public and the advancement of education of the public in the medical and molecular genetics of BHD syndrome. BHD Foundation assists in the treatment and care of persons suffering from BHD syndrome and the relief of financial hardship through the provision of grants, goods and services. BHD syndrome is a rare complex genetic skin disorder (genodermatosis) characterized by the development of skin papules generally located on the head, face and upper torso. These benign tumors (hamartomas) of the hair follicle are called fibrofolliculomas. BHD syndrome also predisposes 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 FLCN (alias BHD) gene and is inherited as an autosomal dominant trait.