Ruvalcaba–Myhre–Smith syndrome (BRR)

Ruvalcaba–Myhre–Smith syndrome (BRR), also known as Bannayan-Riley-Ruvalcaba syndrome, is a rare genetic disorder characterized by macrocephaly (abnormally large head), intestinal polyposis (growth of benign tumors in the intestine), lipomas (benign fatty tumors), and pigmentation of the penis or vulva. It is a condition that falls under the broader category of PTEN hamartoma tumor syndrome (PHTS), which also includes Cowden syndrome and Proteus syndrome, among others. BRR syndrome is caused by mutations in the PTEN gene, which plays a crucial role in cell growth and division.

Symptoms and Diagnosis

The symptoms of Ruvalcaba–Myhre–Smith syndrome can vary widely among affected individuals. Common features include developmental delay, intellectual disability, and a predisposition to certain types of cancer. The diagnosis of BRR syndrome is primarily based on clinical findings and the family history of the patient. Genetic testing for mutations in the PTEN gene can confirm the diagnosis.

Treatment

There is no cure for Ruvalcaba–Myhre–Smith syndrome. Treatment focuses on managing symptoms and monitoring for the development of cancer. Regular screenings for gastrointestinal polyps and other tumors are recommended. Surgical removal of polyps may be necessary to prevent obstruction or malignant transformation. Individuals with BRR syndrome may also require educational support and therapies to address developmental delays and intellectual disabilities.

Epidemiology

Ruvalcaba–Myhre–Smith syndrome is a rare condition, though the exact prevalence is unknown. It affects males and females equally and has been reported in individuals of various ethnic backgrounds.

Genetics

The PTEN gene, located on chromosome 10q23, is a tumor suppressor gene that is mutated in individuals with BRR syndrome. These mutations are usually inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene is sufficient to cause the disorder. However, some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

See Also

• PTEN hamartoma tumor syndrome
• Cowden syndrome
• Proteus syndrome
• Peutz-Jeghers syndrome

Ruvalcaba–Myhre–Smith syndrome (BRR) Resources
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