Pathogenic variants in PTEN (Phosphatase and tensin homolog) underlie the multifaceted PTEN hamartoma tumour syndrome.1–6 Marked by macrocephaly, developmental delay, mucocutaneous lesions and an increased susceptibility to diverse cancers (breast, endometrial, thyroid, renal and colon), PHTS presents a diagnostic challenge due to its variable and age-related manifestations.4,7–11. This evidence concerns the gene PTEN and PTEN hamartoma tumor syndrome.