PTEN Hamartoma Tumor Syndrome (PHTS) is a genetic disorder caused by a mutation in the PTEN gene. It is characterized by the presence of hamartomas, which are non-cancerous tumors that can occur in various parts of the body, including the brain, skin, and endocrine organs. People with PHTS may also have an increased risk of developing certain types of cancer, including breast, thyroid, and endometrial cancer. Other symptoms of PHTS can include macrocephaly (an abnormally large head), autism spectrum disorder, and intellectual disability.

The most common symptoms of PTEN Hamartoma Tumor Syndrome (PHTS) include:

-Developmental delays

-Autism spectrum disorder

-Intellectual disability

-Seizures

-Growth hormone deficiency

-Macrocephaly (abnormally Large head size)

-Gastrointestinal problems

-Skin abnormalities

-Facial features such as a broad forehead, wide-set eyes, and a pointed chin

-Cleft lip and/or palate

-Hypertrophic Cardiomyopathy (thickening of the heart muscle)

-Kidney abnormalities

-Endocrine abnormalities

-Cancer (rare)

PTEN Hamartoma Tumor Syndrome (PHTS) is caused by a mutation in the PTEN gene. This gene is responsible for controlling cell growth and division, and when it is mutated, it can lead to the development of tumors and other health problems. The mutation can be inherited from a parent or can occur spontaneously.

The primary treatment for PTEN Hamartoma Tumor Syndrome is surgical removal of the tumors. This is usually done through a laparoscopic procedure. Other treatments may include radiation therapy, chemotherapy, and hormone therapy. In some cases, medications such as growth hormone blockers may be prescribed to help reduce the size of the tumors. In addition, lifestyle modifications such as diet and exercise may be recommended to help manage symptoms.

1. Inherited mutation of the PTEN gene
2. Family history of PTEN Hamartoma Tumor Syndrome
3. Personal history of Cowden Syndrome
4. Personal history of Bannayan-Riley-Ruvalcaba Syndrome
5. Personal history of Proteus Syndrome
6. Personal history of Proteus-like Syndrome
7. Personal history of Lhermitte-Duclos Disease
8. Personal history of Macrocephaly-Capillary Malformation Syndrome
9. Personal history of Proteus-like Syndrome with Macrocephaly
10. Personal history of Proteus Syndrome with Macrocephaly

At this time, there is no cure for PTEN Hamartoma Tumor Syndrome. However, there are medications that can be used to manage the symptoms of the condition. These include medications to control seizures, hormone replacement therapy, and medications to reduce the risk of cancer. Additionally, lifestyle modifications such as diet and exercise can help to reduce the risk of complications associated with the condition.