Bannayan-Riley-Ruvalcaba Syndrome

What is Bannayan-Riley-Ruvalcaba Syndrome?

BRRS is an inherited disease present at birth that is part of the PTEN Hamartoma Tumor Syndrome spectrum of disorders, which you can learn more about PTEN Hamartoma Tumor Syndromes here. A distinctive characteristic of it is the presence of hamartomas, which are noncancerous tumors growing on various parts of the body. Patients with BRRS may be more likely to develop cancer.

What are the symptoms of Bannayan-Riley-Ruvalcaba syndrome?

Symptoms can vary greatly from person to person, meaning that people with the same disease may not have all of the symptoms listed below:

Macrocephaly, which means a larger than normal head size
Hamartomas in the intestines (also called hamartomatous intestinal polyps)
Lipomas (benign tumors in fatty tissue)
Dark freckles on the penis
High birth weight
Developmental delays (like speech and motor skills)
Learning disabilities
Blood vessel changes
Autism
Thyroid problems
Vascular malformations
Muscle weakness
Scoliosis

What causes BRRS?

BRRS is caused by mutations in the PTEN gene, a gene that works to suppress tumors. Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. When the PTEN gene mutates it can’t carry out its functions, which allows the development of the various symptoms of BRRS. To learn more about the PTEN gene and its mutations, click here.

How is BRRS diagnosed?

Specific diagnostic criteria have not yet been established for BRRS. Still, it can be suspected based on:

The presence of characteristic symptoms
Genetic testing for PTEN gene mutations

What are the treatments for BRRS?

Treatment caters to the affected individual. It includes:

Treatment that targets the specific symptoms present
Consistent cancer screenings
Genetic counseling

Where can I find out more about BRRS?