Summary about Disease
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (enlarged head size), hamartomas (benign, tumor-like growths), lipomas (fatty tumors), and pigmented macules of the penis (in males). Other common features can include developmental delays, intellectual disability, and gastrointestinal problems. The severity of the condition varies considerably among affected individuals. The syndrome is associated with an increased risk of certain cancers.
Symptoms
Symptoms of BRRS can include:
Macrocephaly (enlarged head)
Hamartomas (benign growths, especially in the intestines)
Lipomas (fatty tumors under the skin)
Pigmented macules on the penis (dark spots)
Developmental delays (speech, motor skills)
Intellectual disability (ranging from mild to moderate)
Hypotonia (low muscle tone)
Gastrointestinal problems (constipation, diarrhea, vomiting)
Vascular malformations
Thyroid abnormalities
Increased risk of certain cancers (thyroid, colon, breast)
Causes
BRRS is caused by mutations in the PTEN gene. This gene acts as a tumor suppressor. Mutations in *PTEN* lead to dysregulation of cell growth and proliferation, which contributes to the development of the syndrome's characteristics. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the disorder. In many cases, the mutation occurs spontaneously (de novo) in the affected individual and is not inherited from a parent.
Medicine Used
4. Medicine used There is no specific medication to cure BRRS. Treatment focuses on managing individual symptoms and complications. Medications may include:
Laxatives or stool softeners: To manage constipation.
Anti-seizure medications: If seizures are present.
Medications for thyroid abnormalities: If present.
Pain relievers: For discomfort associated with lipomas or other growths.
Sirolimus (Rapamycin): In some cases, sirolimus, an mTOR inhibitor, is used to help manage growth and vascular malformations. This is not a standard treatment and should be discussed with a specialist.
Surveillance and early treatment of cancer is important
Is Communicable
No, BRRS is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Since BRRS is a genetic condition, there are no precautions to prevent it from developing in an individual already carrying the mutated gene. Genetic counseling is recommended for families with a history of BRRS who are planning to have children. Regular medical check-ups are essential to monitor for potential complications such as cancer or vascular malformations. Lifestyle adjustments may be necessary to manage certain symptoms such as gastrointestinal issues.
How long does an outbreak last?
BRRS is not an infectious disease, so the term "outbreak" is not applicable. It is a chronic condition that is present from birth, even if the symptoms become more noticeable over time. The symptoms persist throughout the individual's life, requiring ongoing management.
How is it diagnosed?
Diagnosis of BRRS is based on a combination of clinical findings and genetic testing. Diagnostic methods include:
Physical examination: Assessment of physical characteristics such as macrocephaly, lipomas, and pigmented macules.
Developmental assessment: Evaluation of cognitive and motor skills.
Imaging studies: MRI or CT scans to identify hamartomas, vascular malformations, or other internal abnormalities.
Genetic testing: Sequencing of the PTEN gene to identify mutations. This is the most definitive diagnostic tool.
Family history: Assessing if anyone else in the family has signs and symptoms related to BRRS.
Timeline of Symptoms
9. Timeline of symptoms The timeline of symptoms in BRRS can vary. Some features are present at birth or infancy, while others may develop later in childhood or adolescence.
Infancy/Early Childhood: Macrocephaly, hypotonia, developmental delays, gastrointestinal problems.
Childhood/Adolescence: Lipomas, pigmented macules on the penis, hamartomas, vascular malformations may become more apparent.
Throughout Life: Increased risk of certain cancers requires ongoing monitoring.
Important Considerations
Cancer Risk: Individuals with BRRS have an increased risk of certain cancers, particularly thyroid, breast, and colon cancer. Regular screening is essential.
Genetic Counseling: Genetic counseling is important for families with a history of BRRS.
Symptom Management: Management is tailored to the individual's specific symptoms and needs.
Multidisciplinary Care: A multidisciplinary team of specialists, including geneticists, pediatricians, gastroenterologists, endocrinologists, and oncologists, is typically involved in the care of individuals with BRRS.
Early Intervention: Early intervention programs can help address developmental delays and improve outcomes for children with BRRS.
Surveillance: Lifelong surveillance for new symptoms and complications is necessary.