Bannayan-Riley-Ruvalcaba Syndrome (BRRS): Symptoms, Causes, Treatment

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

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by several signs and symptoms, which can vary widely among affected individuals. Common features of BRRS may include:

1. Macrocephaly: An abnormally large head size, often noticed in infancy or early childhood.
2. Developmental delay: Delays in reaching developmental milestones, such as walking and talking, may be observed in some individuals with BRRS.
3. Intellectual disability: Intellectual disability ranging from mild to moderate may be present in some individuals with BRRS.
4. Multiple lipomas: The development of multiple noncancerous fatty tumors (lipomas) beneath the skin, typically appearing in childhood or adolescence.
5. Vascular malformations: Abnormalities in the blood vessels, such as arteriovenous malformations (AVMs) or hemangiomas, may occur in some individuals with BRRS.
6. Pigmented skin lesions: Skin findings such as freckling, café-au-lait spots, or lentigines (dark pigmented spots) may be present in individuals with BRRS.
7. Skeletal abnormalities: Skeletal features such as scoliosis (abnormal curvature of the spine), kyphosis (excessive outward curvature of the upper spine), or joint laxity (looseness of the joints) may be observed.
8. Other features: Additional features reported in individuals with BRRS may include macroorchidism (enlarged testicles), hemangiomatosis (abnormal growth of blood vessels), thyroid abnormalities, and seizures.

It’s important to note that not all individuals with BRRS will have all of these features, and the severity of symptoms can vary widely. Additionally, some features of BRRS may overlap with those of other genetic syndromes, making diagnosis challenging. If BRRS is suspected based on clinical findings, genetic testing may be recommended to confirm the diagnosis. Management of BRRS typically involves monitoring for potential complications associated with the syndrome and addressing individual symptoms as they arise.

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

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder that is typically caused by mutations in the PTEN gene. The PTEN gene provides instructions for making a protein that acts as a tumor suppressor, helping to regulate cell growth and division. Mutations in the PTEN gene can disrupt its normal function, leading to uncontrolled cell growth and the development of tumors.

BRRS is inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the PTEN gene is sufficient to cause the disorder. In some cases, individuals with BRRS inherit the mutated gene from a parent who also has the syndrome. However, BRRS can also occur due to new mutations in the PTEN gene that occur randomly during the formation of reproductive cells or early development.

It’s important to note that not all individuals with BRRS will have a detectable mutation in the PTEN gene, as genetic testing may not identify mutations in all cases. Additionally, some individuals with features of BRRS may have mutations in other genes that have not yet been identified.

The PTEN gene is also associated with other conditions, including Cowden syndrome and Proteus syndrome, which share some overlapping features with BRRS. The specific genetic mutation and other factors may influence the range and severity of symptoms observed in individuals with BRRS.

What is the treatment for Bannayan-Riley-Ruvalcaba syndrome?

The treatment for Bannayan-Riley-Ruvalcaba syndrome (BRRS) focuses on managing the individual symptoms and complications associated with the disorder. Since BRRS is a rare genetic condition with a wide range of symptoms, treatment may vary depending on the specific needs of each affected individual. Treatment options may include:

1. Regular monitoring and surveillance: Individuals with BRRS may benefit from regular medical evaluations and monitoring to assess for potential complications associated with the syndrome, such as the development of tumors, vascular malformations, or other health issues. Early detection and intervention can help manage these complications more effectively.
2. Surgical intervention: Surgical removal of lipomas (noncancerous fatty tumors) or other tumors may be necessary in some cases, especially if they are causing symptoms or complications.
3. Physical therapy and rehabilitation: Physical therapy may be recommended to address musculoskeletal issues, such as joint laxity, scoliosis, or kyphosis. Rehabilitation programs can help improve strength, flexibility, and functional mobility.
4. Management of intellectual and developmental disabilities: Individuals with BRRS who have intellectual or developmental disabilities may benefit from educational and behavioral interventions, supportive services, and accommodations to help maximize their potential and quality of life.
5. Genetic counseling and family support: Genetic counseling may be helpful for individuals and families affected by BRRS to better understand the underlying genetic cause of the disorder, discuss inheritance patterns, and explore available testing options. Family support groups and resources can provide emotional support and practical assistance to individuals and families affected by BRRS.
6. Management of associated conditions: Treatment and management of associated conditions such as vascular malformations, thyroid abnormalities, or seizures may require a multidisciplinary approach involving specialists in cardiology, endocrinology, neurology, and other relevant medical disciplines.

Since BRRS is a rare genetic disorder, treatment is often tailored to the individual’s specific symptoms and needs. Close collaboration between affected individuals, their families, and a multidisciplinary healthcare team is essential to provide comprehensive care and support for individuals with BRRS.