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Bannayan-Riley-Ruvalcaba Syndrome (BRRS)

Bannayan-Riley-Ruvalcaba Syndrome (BRRS)



Overview

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic disorder that increases your risk of getting tumors. It’s part of a group of conditions called PTEN hamartoma tumor syndrome (PHTS). PHTS includes both Cowden syndrome and BRRS.


BRRS usually happens when there’s a mutation (change) in your PTEN gene. Your PTEN gene produces proteins that slow the growth of tumors. Because people with BRRS have a damaged PTEN gene, many develop hamartomas (tumor-like growths) and other noncancerous and cancerous tumors. They also have an increased risk of developing cancers. Other symptoms may include high birth weight, macrocephaly (large head), freckles on your penis, and various developmental and intellectual delays.

Other names for Bannayan-Riley-Ruvalcaba syndrome include:

Riley-Smith syndrome.

Ruvalcaba-Myhre syndrome.

Ruvalcaba-Myhre-Smith syndrome.

Bannayan-Zonana syndrome.

Symptoms

Bannayan-Riley-Ruvalcaba syndrome symptoms vary significantly and may include:

High birth weight and length.

Macrocephaly (large head).

Pigmented macules (freckles) on your penis.

Low muscle tone (hypotonia).

Developmental delays in speech and/or motor skills.

Intellectual disabilities (about 50% of people with BRRS).

Autism spectrum disorder (up to 20% of children diagnosed with autism spectrum disorder have a mutation in their PTEN gene).

Muscle weakness.

Hamartomas (noncancerous growths made of abnormal cells and tissues) in your intestinal tract.

Hyperflexible joints.

Seizures.

Pectus excavatum (a condition in which your breastbone sinks into your chest).

Scoliosis.

Acanthosis nigricans (dark discoloration in your body’s folds and creases).

Lipomas (fatty tumors located just beneath your skin).

Angiolipomas (noncancerous growths made of fat and blood vessels).

Hemangiomas (birthmarks made of extra blood vessels under your skin).

Causes

BRRS can occur for two reasons:

There’s a mutation in your PTEN gene. (This is the most common cause.)

There’s a large deletion of genetic material that includes all or part of your PTEN gene. (This occurs in about 10% of cases.)

Your PTEN gene produces a protein that slows the growth of tumors. When this gene is missing or not working properly, your cells can divide uncontrollably, resulting in the development of hamartomas and other cancerous and noncancerous tumors.

Experts have yet to determine why PTEN gene mutations cause other BRRS symptoms, such as macrocephaly, muscular and skeletal abnormalities, and developmental and intellectual delays.

Diagnosis

If a healthcare provider suspects that you could have BRRS, they’ll likely recommend genetic testing of the PTEN gene. Your provider will use gene sequencing — a process that examines each component of the gene for changes or mutations.

PTEN testing is accurate. If your provider finds a PTEN gene mutation, then they can confirm your BRRS diagnosis with 100% certainty. But only 60% of people with BRRS symptoms have an identifiable gene mutation. This means that up to 40% of people with BRRS symptoms will receive a normal test result. If you’re interested in PTEN testing, talk to your healthcare provider.

Treatment

There’s no specific treatment for BRRS. Rather, Bannayan-Riley-Ruvalcaba syndrome treatment involves managing the signs and symptoms that are unique to you.

People with BRRS should have routine monitoring for various types of cancers, whether they have BRRS symptoms or not. Healthcare providers recommend that people who have a documented PTEN gene mutation follow the screening guidelines for Cowden syndrome. This includes screenings for:

Breast cancer.

Uterine cancer.

Thyroid cancer.

Kidney cancer.

Genetic counseling is beneficial for people with BRRS. Family members who don’t show BRRS symptoms should have PTEN gene testing to determine if they also need to follow cancer screening guidelines.

Surveillance guidelines for BRRS

For each cancer type, there are specific surveillance guidelines, including when to start screening. Screening doesn’t start at the time of diagnosis for all cancers — and it depends on the person’s age at diagnosis.

For people under the age of 18, healthcare providers may recommend:

Yearly thyroid ultrasound starting at age 7.

Yearly skin check with physical examination.

Neurodevelopmental evaluation.

Yearly hemoglobin test for early detection of intestinal hamartomas.

Type of Doctor Department :  A neurologist, dermatologist, gastroenterologist, and urologist


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