PTEN-related disease

PTEN (phosphatase and tensin homolog) gene mutation is associated with a few conditions known as PTEN-related diseases, with relatively similar clinical and radiological manifestations. They include:

• Bannayan-Riley-Ruvalcaba
• COLD syndrome
  • Cowden syndrome
  • Lhermitte-Duclos disease

Those not formally fulfilling the criteria of PTEN-related diseases are often described as PTEN hamartoma tumor syndrome.