Catalog

PTEN Hamartoma tumour syndrome

No MMS code

Link to WHO Definition

PTEN Hamartoma tumour syndrome – http://id.who.int/icd/entity/892873372

The PTEN hamartoma tumour syndrome (PHTS) is characterised by multiple hamartomas that can affect various areas of the body. Hamartoma is a benign tumour-like malformations, composed of mature cells and tissue normally found in the affected area. PHTS is caused by mutations of the PTEN gene. PHTS includes virtually all cases of Cowden syndrome (also known as multiple hamartoma syndrome) and a percentage of cases of Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome.