Birt Hogg Dube Syndrome
Birt Hogg Dube Syndrome is characterized by the triad of hair follicle hamartomas, lung cysts, and renal neoplasia.
The disorder is caused by mutations in the BHD gene, located at 17p11.2.
While the disorder is highly penetrant with respect to lung and skin findings (>85%), renal neoplasia only occurs in 25% to 35% of patients.
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