Does anyone in your family have these symptoms? Let's talk about Bannayan-Riley-Ruvalcaba Syndrome (BRRS)

Today we are going to talk about a rare but very important condition. It is called Banyan-Riley-Ruvalcaba Syndrome, or ``BRRS'' for short. It is a genetic condition. That is, it is caused by a small change in the genes in our body. This condition increases the risk of developing abnormal lumps (``tumors'') in various parts of the body. Don't worry, let's understand this simply.

What is Banyan-Riley-Ruvalcaba Syndrome (BRRS)?

Simply put, `(BRRS)` is a genetic condition . It belongs to a group of diseases called `(PTEN hamartoma tumor syndrome (PHTS))`. You may have also heard of `(Cowden syndrome)`, which also falls into this `(PHTS)` category.

This `(BRRS)` condition is usually caused by a change, or mutation , in a gene called `(PTEN)` in our body. This `(PTEN)` gene controls the growth of our cells, especially the production of proteins that control the growth of tumors. So, because this `(PTEN)` gene in a person with `(BRRS)` does not work properly, their cells can grow uncontrollably. This increases the risk of developing hamartomas , as well as other cancerous and non-cancerous tumors. In addition, the risk of developing several types of cancers is also increased.

In addition, there may be increased birth weight, a larger than average head size (macrocephaly), male genitalia, and various developmental and intellectual delays.

What are other names used for `(BRRS)`?

This condition is called by several other names. You may have heard one of these names:

• Riley-Smith syndrome
• Ruvalcaba-Myhre syndrome
• Ruvalcaba-Myhre-Smith syndrome
• Bannayan-Zonana syndrome

How common is this `(BRRS)` condition?

It's hard to say exactly how common this condition is, because the symptoms vary greatly from person to person. Some of the symptoms are very subtle. However, most researchers believe that this is a very rare condition .

What are the symptoms of `(BRRS)`?

The symptoms of Bannayan-Riley-Ruvalcaba syndrome are very varied. Some people may have many of these symptoms, while others may have only a few. Let's take a look at the main symptoms that can be seen:

• Having high birth weight and length .
• A head that is larger than normal (macrocephaly).
• Seeing spots (pigmented macules) in the genital area of ​​boys.
• Lack of muscle tone (hypotonia). Imagine, when you pick up a baby, the limbs feel a little loose.
• Development of speech and/or motor skillsDevelopmental delays.
• This may affect about 50% of people with intellectual disabilities (BRRS).
• Autism spectrum disorder (`(Autism spectrum disorder)`) - It has been found that about 20% of children with autism have a mutation in the `(PTEN)` gene.
• Muscle weakness .
• Hamartomas are non-cancerous, abnormal growths of cells and tissue in the intestines.
• Hyperflexible joints .
• Epilepsy-like seizures (`(seizures)`).
• Pectus excavatum - This is a condition in which the middle of the chest bone is sunken inward.
• Scoliosis .
• Acanthosis nigricans (`(Acanthosis nigricans)`) - Darkening of the skin in the folds of the body and areas such as the elbows, neck, etc.
• Fatty tumors (lipomas) that develop under the skin.
• Non-cancerous lumps made up of fat and blood vessels (angiolipomas).
• Birthmark-like spots (hemangiomas) that form from the collection of extra blood vessels under the skin.

Remember, not everyone has all of these characteristics. Some people may only have a few of them.

What are the causes of `(BRRS)`?

There are two main reasons why this ``(BRRS)`` condition occurs:

1. A mutation in your `(PTEN)` gene. (This is the most common cause.)

2. A large deletion of genetic material that includes all or part of your `(PTEN)` gene. (This occurs in about 10% of cases.)

As we've discussed before, your PTEN gene makes a protein that controls the growth of tumors. If this gene is missing or not working properly, your cells start to divide uncontrollably. This results in hamartomas and other cancerous and noncancerous tumors.

However, experts still don't know exactly how mutations in the PTEN gene cause other symptoms of BRRS, such as macrocephaly (large head), muscle and bone abnormalities, and developmental and intellectual delays.

Does `(BRRS)` pass from generation to generation?

Yes, parents can pass the condition `(BRRS)` on to their children. This is called `(autosomal dominant inheritance )`. Simply put, if either parent has one copy of the mutated `(PTEN)` gene, their child has a 50% chance of inheriting the condition.

How to identify `(BRRS)`?

If a doctor suspects you may have BRRS, they will likely order a genetic test for the PTEN gene.Genetic testing is recommended. This involves a process called gene sequencing. This means that every part of the gene is examined to see if there are any changes or mutations.

This `(PTEN)` test is very accurate. If your doctor finds a `(PTEN)` gene mutation, they can confirm with 100% certainty that you have `(BRRS)`. However, only 60% of people with `(BRRS)` symptoms have a detectable gene mutation. This means that about 40% of people with `(BRRS)` symptoms may have normal test results. If you are interested in getting tested for `(PTEN)`, talk to your doctor.

How is `(BRRS)` treated?

There is no specific treatment for ``(BRRS)''. Instead, treatment for Bannayan-Riley-Ruvalcaba syndrome involves managing your unique symptoms and signs .

People with BRRS should have regular screenings for various types of cancer, whether they have symptoms or not. Doctors recommend that people who have been diagnosed with a PTEN gene mutation should follow the screening guidelines for Cowden syndrome. This includes screening for these cancers:

• Breast cancer
• Uterine cancer
• Thyroid cancer
• Kidney cancer

Genetic counseling is very helpful for people with BRRS. Family members who do not show symptoms of BRRS should also be tested for the PTEN gene to determine if they should also follow cancer screening guidelines.

Observation Guidelines for `(BRRS)`

There are specific surveillance guidelines for each type of cancer, including when to start testing. Not all cancers start testing at the same time as diagnosis - it depends on the person's age at diagnosis.

For people under 18 years of age , doctors may recommend:

• Annual thyroid ultrasound from the age of 7.
• An annual physical examination along with a skin examination .
• A neurodevelopmental evaluation .
• An annual hemoglobin test is required to detect intestinal hamartomas early.

Can BRRS be prevented?

No, BRRS cannot be prevented. It is a genetic condition caused by a gene mutation. People with BRRS can receive genetic counseling. This can help them make informed decisions about healthcare and having children.

What can I expect if I have `(BRRS)`?

The prognosis for someone with BRRS varies greatly from person to person. Some people may have few symptoms and signs - others may have few or no symptoms at all. There are many management options available to people with BRRS that can help improve their overall quality of life. Examples include physical therapy and speech therapy .

As mentioned earlier, people with ``(BRRS)`` should be screened regularly for various types of cancer. Ask your doctor when you should start screening and how often you should have them.

Bannayan-Riley-Ruvalcaba Syndrome and Life Expectancy

Researchers have not yet determined the average life expectancy of people with BRRS. In fact, there is no evidence to suggest that people with BRRS have a shorter life expectancy. However, people with BRRS are at increased risk of developing certain types of cancer at a young age. For this reason, some people may have a shorter life expectancy due to cancer.

When should I see my doctor?

If your close family members (for example, siblings, parents, or children) have `(BRRS)`, you should ask your doctor about `(PTEN)` genetic testing. `(PTEN)` testing can find out if you have a `(PTEN)` gene mutation and whether you should be screened regularly for certain cancers.

If you or your child is diagnosed with BRRS, your doctor will work with you to manage your symptoms and improve your quality of life. They will also tell you how often you should have cancer screenings.

What questions should I ask my doctor?

If you or a loved one is diagnosed with BRRS, here are some questions you can ask your doctor:

• Is there a detectable `(PTEN)` gene mutation in me or my child?
• Are there any obvious symptoms and signs?
• Should I get a genetic test?
• Should my immediate family members also undergo genetic testing?
• How does this affect family planning?
• What treatment or management options do you recommend?
• How often should I get cancer screening tests?

Take-Home Message

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition caused by a mutation in your PTEN gene. Symptoms can vary greatly, and can range from mild to severe. There is no specific treatment for BRRS, but the main treatment is symptom management. It is important for people with BRRS to have regular screening for certain types of cancer, including breast, uterine, thyroid, and kidney cancer.

Talking to a counselor or social worker can be very helpful in dealing with the emotions that come with receiving a diagnosis like this. You can also join a local or online support group to meet others who have gone through similar experiences. Don't worry, you are not alone. With proper medical advice and support, you can manage this condition and live a good life.

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