As one of the hamartoma syndromes, BHD shares many clinical features (such as follicular hamartomas, mucosal fibromas, and internal malignancy) with Cowden syndrome (CD, affected gene PTEN), Peutz-Jeghers syndrome (PJS, affected gene LKB1), and tuberous sclerosis complex (affected genes TSC1/TSC2) [14], [15], [16]. This evidence concerns the gene STK11 and Birt-Hogg-Dube syndrome.