In addition to CS, germline PTEN mutations have been associated with the following syndromes, globally known as PTEN hamartoma tumor syndromes (PHTS): Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus, Proteus-like syndrome, adult Lhermite Duclos disease, and autism-like disorders associated with macrocephaly [6]. This evidence concerns the gene PTEN and Cowden syndrome 1.