In our patient, whole exome sequencing revealed a heterozygous pathogenic variant, which was identified in the PTEN gene, Chr10 NM_000314.8 (GRCh37): g.89624243_89624244del, c.17_18del p.(Lys6Argfs*4). According to the Human Gene Mutation Database (HGMD) Professional 2018.2, this variant was previously described as a disease-causing CS [17]. Here, PTEN is linked to Cowden syndrome 1.