PTEN Hamartoma Tumor Syndrome awareness and patient registry system for Turkey 

PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic condition.  PHTS occurs due to alterations in the gene called PTEN (full name: Phosphatase and Tensin Homolog).  

While its prevalence is not completely known, researchers think it affects roughly 1 in 200.000 people (so an estimated 400-450 people in Turkey). Research by Kaymakçalan et al1 found the prevalence of PTEN mutations in children with autism spectrum disorder and macrocephaly in Turkey to be 3.8%. PTEN gene analysis is thus recommended for patients presenting autism spectrum disorders and macrocephaly.  

In adults PHTS is tied to diagnoses of Cowden Syndrome and Bannayan-Riley-Ruvalcave Syndrome. In children, PHTS can account for macrocephaly (large head), autism spectrum disorders, and development and mental delay.  The severity of the symptoms associated with PHTS varies from patient to patient.  

In adults, children and adolescents it is associated with an increased risk for certain types of cancer2.  Some people with the condition have fatty lumps called lipomas, increased skin pigmentation, wart-like lesions, or over-growth of blood vessels (arterio-venous malformations). 

There is currently no treatment for PHTS. Researchers are working on developing new medications3.  Cancer screening gains importance for patients with PHTS.