The c.1638C>A (p.Asn546Lys) FGFR1 mutation has been recurrently identified in ECCL cases (Bennett et al., 2016) while one patient with clinical criteria for both OES and ECCL was found to carry the c.436G>A (p.Ala146Thr) KRAS mutation (Boppudi et al., 2016). This evidence concerns the gene FGFR1 and Toriello-Lacassie-Droste syndrome.