In addition to Cowden syndrome, they include Bannayan-Riley-Ruvalcaba syndrome (BRRS), Lhermitte–Duclos disease, macrocephaly/autism syndrome (OMIM #605309), Proteus-like syndrome, and juvenile polyposis of infancy caused by deletions of the BMPR1 and PTEN genes [7,8]. This evidence concerns the gene PTEN and Cowden disease.