Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human, adult onset, disorder caused by a in the folliculin (FLCN) gene. It can cause to kidney cancer, and , and of the hair follicles, called fibrofolliculomas. The symptoms seen in each family are unique, and can include any combination of the three symptoms. Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHD over the age of 40. Pulmonary cysts are equally common (84%) and 24% of people with BHD eventually experience a collapsed lung. Kidney tumors, both cancerous and , occur in 14–34% of people with BHD; the associated kidney cancers are often rare hybrid tumors.
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