Identification of c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN as the causative factor for Cowden syndrome: a medical case study

A representative case of Cowden syndrome with florid mucocutaneous manifestations is presented. A genetic study revealed the c.104T>G, p.Met35Arg (NM_00314.8) heterozygous variant in exon 2 of PTEN. A satisfactory response of skin lesions to sirolimus was obtained.