A medical condition that includes Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (BRRS) is known as PTEN hamartoma tumor syndrome (PHTS). In people with this syndrome, specific abnormal genes cause uncontrolled cell growth. That’s why it leads to benign (noncancerous) tumors, unusual skin growths, and an increased risk of cancer.
In other words, PHTS refers to a group of genetic disorders that involve DNA mutations (changes) in the PTEN gene. This is a tumor suppressor gene that helps prevent abnormal cell growth that eventually turns into hematomas. These are benign tumor-like growths that put you at increased risk of developing malignant (cancerous) tumors.
What Syndromes are Considered PHTS?
It includes BRRS (Bannayan-Riley-Ruvalcaba syndrome) and Cowden syndrome. Previously, doctors viewed previous syndromes as different disorders. Nowadays, they are classified under a larger umbrella term (PHTS) because they are associated with the same gene mutation (PTEN gene).
Usually, people with PHTS or BRRS have similar risks and often develop characteristics linked with both Cowden syndrome and BRRS.
- Cowden syndrome – This syndrome mostly occurs in adults. Moreover, people with this disorder can develop both benign and malignant tumors. Usually, the abnormal growths appear on the breasts, uterus, thyroid gland, gastrointestinal tract, skin, tongue, and gums.
- BRRS (Bannayan-Riley-Ruvalcaba syndrome) – In such cases, the syndrome usually occurs in children. It also causes tumors to develop on the skin and birthmarks. Sometimes, BRRS can cause developmental delays.
Symptoms
People with PHTS can experience hematomas throughout the body. The symptoms can be different among people with this syndrome because it depends on which type is associated with PHTS. Check below some symptoms often noticed in people with PHTS:
Skin Growths
- Acrochordons (skin tags)
- Palmoplantar keratosis (dark and flat spots that often appear on the hands and feet)
- Papillomas (skin-colored raised bumps)
- Lipomas (fatty tumors underneath the skin)
- Oral fibromas (hard lumps inside the mouth)
- Hemangiomas and birthmarks (these are blood vessel growths that may appear through the skin)
- Freckling on the penile
Benign Tumors
- Multinodular goiters
- Uterine fibroids
- Fibrocystic breasts
- Colon polyps (these polyps appear in the upper gastrointestinal tract and colon)
- Thyroid nodules
- Fibroadenomas of the breast
Brain and Developmental Problems
- Macrocephaly (large head size)
- Dolichocephaly (longer head shape)
- Developmental delays
- Autism spectrum disorder
If you think you have any of the previous symptoms of PHTS, do not hesitate to see a doctor.
Causes
This disorder occurs due to a mutated (changed) PTEN gene. It produces a specific enzyme that helps cells to stop dividing and tells them when it is time to die to make new space for healthy cells. However, in people with PHTS, this gene does not work properly, which causes cells to grow and multiply abnormally. When these abnormal cells become too numerous, they form a mass called a tumor. The tumors can be noncancerous (benign) or cancerous (malignant). In some cases, when a malignant tumor grows too large, it may break and spread to other parts of the body. In such cases, the condition is called metastatic cancer.
Generally, PHTS is an inherited genetic condition, which means children inherit the abnormal gene from their biological parents during pregnancy.
How is PHTS Inherited?
The mutated PTEN gene is inherited in an autosomal dominant pattern. Normally, all people have two copies of the PTEN gene. When this syndrome occurs, babies receive one abnormal gene and one healthy gene from each biological parent. While one gene works properly, people still develop PHTS.
Sometimes, newborns do not have the abnormal PTEN gene, but they develop a new mutation during pregnancy. Furthermore, there is a 50% chance of passing the abnormal gene to your children in the future, regardless of how you got this mutation.
Cancer Risks Associated with PHTS
Those who suffer from Cowden syndrome are at increased risk of developing certain types of cancer. That’s why doctors recommend regular cancer screening for the rest of their lives. Check below some types of cancer:
- Breast cancer
- Thyroid cancer
- Kidney cancer
- Uterine cancer
- Colorectal cancer
- Melanoma
However, more research is needed to understand the connection between increased cancer risk and BRRS.
How to Prevent PHTS?
Unfortunately, it is not possible to prevent this genetic disorder. That’s why doctors recommend regular cancer screenings. Early detection of cancer increases the chances of a successful treatment. However, you can perform some genetic tests before pregnancy to make sure you do not have this abnormal gene. It is very important to understand the risks of having children with PHTS.
Diagnosis
Usually, doctors perform a physical examination to check for abnormalities linked to the disease. They may also ask some questions about your family history and symptoms. Moreover, to diagnose Cowden syndrome, you should meet the criteria developed by the Cowden Consortium. In general, to confirm or rule out PHTS, doctors perform a genetic test. During this test, doctors will take a sample of blood to check for the presence of the abnormal PTEN gene.
Treatment
Commonly, people with this syndrome need a team of healthcare professionals to manage the symptoms and prevent serious complications. However, there are no specific treatment options for benign or malignant tumors with a PTEN mutation. That’s why the treatment focuses on relieving the symptoms and improving your quality of life. Check below some treatments often recommended for people with PHTS:
- Surgery – During this procedure, surgeons will remove the abnormal tissue. They may also take a small sample of the affected tissue to perform a biopsy. It is done to check for cancerous cells.
- Cryotherapy – This treatment uses extreme cold to destroy abnormal tissue.
- Laser ablation – In such cases, doctors use extreme heat to kill abnormal cells.
- Medicated topical creams – These include medications with specific ingredients that help get rid of skin growths.
Cancer Screening
People with Cowden syndrome should be screened for cancer for the rest of their lives. Check below some screening procedures:
- Mammograms – This is an imaging test that uses low-dose X-rays to make images of the breast tissue.
- Breast MRI (magnetic resonance imaging) scans – This is another imaging test that uses a large magnet and radio waves to produce detailed pictures of the breast tissue.
- Ultrasounds – This test uses sound waves to make images of the breast tissue to check for malignant cells.
- Colonoscopies – During this procedure, doctors use a thin, long, and flexible tube with a lighted camera on the end. It is inserted into the colon to remove polyps, stop pre-cancerous growths from turning into cancerous, and others.
- Endoscopies – This test uses the same tool, but it is inserted into the esophagus and duodenum (the upper part of the small bowel) to examine them.
Frequently Asked Questions
Is there a cure for PHTS?
There is no way to cure this syndrome. That’s why the treatment goal is to ease the symptoms and improve your quality of life. Moreover, researchers are studying treatments that may help reduce the risk of cancers that involve a PTEN mutation.
What conditions are closely associated with the PTEN hamartoma tumor syndrome?
People with PHTS are at increased risk of some types of cancer. These include cancers of the breasts, thyroid, and gastrointestinal (GI) tract. In addition, most people with this syndrome also have macrocephaly, skin growths, and multiple benign tumors.
What are the symptoms of PTEN hamartoma tumor syndrome?
The most common symptoms include papillomatous papules (small colored nodules in the skin or mouth), lipomas (fatty nodules under the skin), and acral and plantar keratosis (thickened skin on the feet and hands). However, people with PHTS may also experience other symptoms. If you have additional questions, ask your healthcare provider.
