PTEN hamartoma tumor syndrome in children: diagnosis based on cutaneous manifestations with a focus on translucent palmoplantar papules.

PTEN hamartoma tumor syndrome (PHTS) is caused by autosomal dominant germline mutations in PTEN. It includes Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). CS is characterized by the presence of multiples cutaneous and extracutaneous hamartomas and high risk of breast, thyroid and endometrial carcinomas. PTEN mutations have been identified in around 8 to 12% of children with autism spectrum disorder or developmental delay, respectively, associated with macrocephaly.(1) Early diagnosis of PHTS allows proper follow-up and cancer surveillance. Through four children, we highlight the importance of cutaneous manifestations for the diagnosis of PHTS in them.