Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare condition that is usually present at birth. Occasionally, it may become apparent in early childhood. It is characterized by the following:
- Large head size
- Benign polyps in the intestine
- Lipomas
- Pigmented lesions on the penis
Individuals with this disorder may also exhibit the following:
- Intellectual disability
- Delayed development
- Hypotonia
- Seizure disorders
- Skeletal abnormalities
- Pectus Excavatum
About 60% of all cases of Bannayan-Riley-Ruvalcaba syndrome result from mutations in the PTEN gene. This condition is inherited in an autosomal dominant pattern. Due to commonality in mutation of the PTEN gene, BRRS is closely related to Cowden syndrome.
Diagnosis:
You/your child will meet with the Vascular Anomalies Center team during the initial clinic visit for a comprehensive review of the patient’s medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan.
Diagnosis of BRRS includes the presence of macrocephaly and the presence of four sub-criteria:
- Autism spectrum disorder
- Dermatologic features
- Vascular malformations
- Gastrointestinal polyposis
BRRS is inherited autosomal dominantly. Genetic counseling can be offered to patients with PTEN mutations, and asymptomatic family members should also be tested for the mutation to identify those who need to be monitored before symptom onset.
Treatment:
BRRS is not curable. Treatment is based on the specific signs and symptoms present in the individual. Management and treatment is multidisciplinary and could include:
- Thyroid ultrasound exam once a PTEN mutation is identified, and annually thereafter until age 18 years
- Annual skin check until age 18
- Colonoscopy and renal imaging biennially, beginning between the ages of 35-40 years
- Monthly breast self-examinations for women and yearly breast screenings as well as transvaginal ultrasounds or endometrial biopsies beginning at the age of 30
