Bannayan-Riley-Ruvalcaba syndrome

Overview

What is Bannayan-Riley-Ruvalcaba syndrome?

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition in which the affected person could have a large head and many benign tumors. BRRS is part of the broad spectrum of diseases caused by mutations in the PTEN gene. This spectrum includes diseases such as Cowden syndrome and PTEN-related Proteus syndrome.

Infants born with BRRS tend to have a large head and body size, but their excessive growth slows down as the child gets older. By the time they reach adulthood, they will have normal height and weight. A male with BRRS can also get dark freckles on his penis. People with BRRS can develop lipomas (benign fatty tumors) and hemangiomas- a mesh of abnormal blood vessels that make the skin red or purple. Benign hamartomatous polyps are common colon findings, with numbers ranging from a couple of polyps to hundreds. Adenomatous polyps are also common and these can become cancerous. Individuals with BBRS are also known to be at increased risk for certain cancers like breast cancer, thyroid cancer, endometrial cancer, colon cancer, kidney cancer, and melanoma.

Other symptoms include muscle abnormalities such as hypotonia (weak muscle tone), possible intellectual and developmental delays, thyroid problems, hyper-extensibility, and scoliosis.

References
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Are there other names for Bannayan-Riley-Ruvalcaba syndrome?

How many people have Bannayan-Riley-Ruvalcaba syndrome?

What is the usual abbreviation for Bannayan-Riley-Ruvalcaba syndrome?

What health problems are part of Bannayan-Riley-Ruvalcaba syndrome?

Is Bannayan-Riley-Ruvalcaba syndrome more common in some parts of the world?

Is Bannayan-Riley-Ruvalcaba syndrome a cancer disease?

Are there other names for Bannayan-Riley-Ruvalcaba syndrome?

Other names for Bannayan-Riley-Ruvalcaba syndrome include:

  • BRRS
  • Myhre-Riley-Smith syndrome
  • Riley-Smith syndrome
  • Bannayan-Zonana syndrome
  • Ruvalcaba-Myhre-Smith syndrome
  • Ruvalcaba-Myhre syndrome
References
How many people have Bannayan-Riley-Ruvalcaba syndrome?

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is considered to be a rare disease. It is unknown how many people have BRRS, but it is believed to occur in all racial and ethnic groups.

References
What is the usual abbreviation for Bannayan-Riley-Ruvalcaba syndrome?

You will most frequently see Bannayan-Riley-Ruvalcaba syndrome abbreviated as BRRS. Most websites and journal articles will let you know that they are abbreviating the name of the disease.

References
What health problems are part of Bannayan-Riley-Ruvalcaba syndrome?

The biggest health concerns for Bannayan-Riley-Ruvalcaba syndrome are the increased risks for certain cancers. People with Bannayan-Riley-Ruvalcaba syndrome have an approximately 35% risk of developing thyroid cancer. They are also at an increased risk for kidney and colon cancer. Women have an increased risk of endometrial (uterine) cancer. They also have an increased risk of breast cancers. Since men have little breast tissue, they also have an increased risk for breast cancer.

The recommended guidelines are to have yearly checkups with specialists that can look to see if any cancers have developed. It is recommended to have an ultrasound of your thyroid, and an MRI of your kidneys. Colonoscopies should also be done and your gastroenterologist will let you know how often. Uterine checkups are recommended for women. Mammograms or breast MRIs are recommended for both men and women.

References
Is Bannayan-Riley-Ruvalcaba syndrome more common in some parts of the world?

As of 2020, Bannayan-Riley-Ruvalcaba syndrome is known to affect people from all races and ethnic backgrounds. It is not common to just one part of the world or to just one ethnicity.

References
Is Bannayan-Riley-Ruvalcaba syndrome a cancer disease?

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is genetic condition in which the affected person could have a large head and many benign tumors. BRRS is part of the broad spectrum of diseases caused by mutations in the PTEN gene. This spectrum includes diseases such as Cowden syndrome and PTEN-related Proteus syndrome. Diseases in this spectrum have been known to cause cancer.

People with BRRS develop benign tumors such as lipomas (benign fatty tumors), hemangiomas (mesh of abnormal blood vessels that make the skin red or purple), and intestinal polyps. However, people with BRRS are at risk of developing certain cancers. They have an approximately 35% risk of developing thyroid cancer. They are also at an increased risk for kidney and colon cancer. Women have an increased risk of endometrial (uterine) cancer. They also have an increased risk of breast cancers. Since men have breast tissue, they also have an increased risk for breast cancer.

References

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