What Is Bannayan-Riley-Ruvalcaba Syndrome

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder that can affect various aspects of a person’s health and development. In this article, we will provide simple, easy-to-understand explanations of BRRS, its types, causes, symptoms, diagnostic tests, treatments, and medications.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder that is present at birth and is characterized by a large head size (macrocephaly), pigmented spots (maculae) on the penis and benign tumors and tumor-like growths in the intestine called hamartomas. Other possible features include multiple vascular malformations, skeletal abnormalities, as well as developmental delay, autism spectrum disorder, and/or intellectual disability. BRRS is inherited in an autosomal dominant pattern.

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a genetic condition that affects the way a person’s body grows and develops. It can lead to a range of health issues and is often present from birth.

Types of BRRS:

There is one main type of BRRS, but it can vary in severity from person to person. It’s important to note that BRRS is also closely related to another condition called Cowden Syndrome.

Common Causes of BRRS:

Approximately 60% of patients with BRRS have an inborn change (mutation) in the PTEN tumor suppressor gene in all cells of their bodies. A tumor suppressor is a gene that slows down cell division, repairs damage to the DNA of cells, and tells cells when to die, a normal process called apoptosis. Mutations in a tumor suppressor gene often lead to overgrowth and/or cancer. The PTEN gene results in the production of an enzyme called phosphatase and tensin homolog (from which the name ‘PTEN’ is derived). PTEN is important for stopping cell growth and starting apoptosis. Researchers believe that the PTEN gene plays a broad role in the development of human cancers.

BRRS is inherited in an autosomal dominant pattern. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene that first occurs in the affected individual (known as de novo). The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

BRRS is primarily caused by changes, or mutations, in specific genes. These gene mutations are usually present at birth and can be inherited from a person’s parents. Here are some common causes of BRRS:

1. Genetic Mutations: Changes in certain genes can cause BRRS.
2. Inherited Mutations: BRRS can be passed down from parents to their children.
3. Family History: Having a family history of BRRS or related conditions can increase the risk.
4. Genetic Factors: Certain genetic factors can make some individuals more susceptible.
5. Spontaneous Mutations: In some cases, BRRS can occur due to random gene mutations.
6. No Known Cause: In some instances, the exact cause may not be known.

Symptoms of BRRS:

Individuals with BRRS have clinical findings that vary from one person to another. They can be separated into different categories: skin, facial differences, skeletal abnormalities, thyroid gland tumors, gastrointestinal tract, central nervous system, ocular abnormalities, muscular system and other findings. Children with BRRS also tend to be bigger and longer at birth and can have blood vessel changes (hemangiomas) which are seen as raised red birthmarks. Growth slows down with age and patients tend to have normal size and height as adults. This is not a complete list of possible findings. Some are found in case reports and are added to the list of possible findings.

Macrocephaly is a hallmark for the diagnosis of BRRS (head circumference greater than or equal to the 97th percentile).

Hamartomatous polyposis in the gastrointestinal tract (in the colon and rectum) is seen in 35-45% of patients. Hamartomatous polyposis is defined as a disorganized accumulation of cells and their components from the region where they are located.

Skin features are extensive in BRRS. Patients may have multiple subcutaneous or visceral (related to the internal organs) lipomas. Spots (hyperpigmented macules) on the skin of the penis are a very characteristic feature (penile lentigines). Other skin features are dark discoloration of the body folds and creases (acanthosis nigricans) and overgrowths of cells on the face called papillomatous papules.

Neuromuscular and neurodevelopmental abnormalities are common and can include low muscle tone (hypotonia), delayed psychomotor development, seizures (less commonly), developmental delay, autism spectrum disorder, and/or intellectual disability.

Children with BRRS may also have skeletal malformations such as a funnel chest (pectus excavatum) and abnormal side-to-side and/or front-to-back curvature of the spine (scoliosis, kyphosis or kyphoscoliosis if both). They can also have joint hypermobility.

Muscular system abnormalities include an abnormal mixture of fat tissue, fibrous tissue and abnormal vessels found inside the muscle (intramuscular lesions).

BRRS can affect various parts of the body, leading to a wide range of symptoms. Here are 20 common symptoms:

1. Large Head Size: Individuals with BRRS may have a larger than average head.
2. Non-Cancerous Growths: BRRS can cause non-cancerous growths on the skin or inside the body.
3. Overgrowth of Bones: Some bones may grow more than usual.
4. Delayed Development: Children with BRRS may develop more slowly than their peers.
5. Learning Disabilities: BRRS can lead to learning difficulties.
6. Intellectual Disability: In some cases, individuals may have intellectual disabilities.
7. Speech Delays: Some people with BRRS may have speech problems.
8. Enlarged Organs: Certain organs may be larger than normal.
9. Skin Changes: Skin may be rough or have unusual markings.
10. High Birth Weight: Babies with BRRS often have a higher birth weight.
11. Muscle Weakness: Weakness in the muscles can occur.
12. Behavioral Issues: Some individuals may have behavioral problems.
13. Connective Tissue Problems: Issues with connective tissues can affect joints.
14. Vision Problems: BRRS can lead to vision issues.
15. Thyroid Abnormalities: The thyroid gland may not function properly.
16. Intestinal Polyps: Polyps can develop in the intestines.
17. Heart Abnormalities: Some individuals may have heart problems.
18. Delayed Puberty: Puberty may start later than usual.
19. Breast Enlargement: In males, breast tissue may grow abnormally.
20. Risk of Cancer: There is an increased risk of certain cancers in individuals with BRRS.

Diagnostic Tests for BRRS:

BRRS may be suspected based upon identification of characteristic physical features (e.g., macrocephaly, penile lentigines, hamartomatous polyposis, characteristic facial abnormalities, skeletal malformations, etc.). The diagnosis may be confirmed by a thorough clinical evaluation and detailed patient and family histories. The diagnosis can also be confirmed when a germline mutation in the PTEN gene is identified.

Diagnosing BRRS often involves a combination of medical assessments and tests. Here are 20 common diagnostic tests:

1. Physical Examination: Doctors will assess physical features and growth patterns.
2. Family History: A family history of BRRS or related conditions is important.
3. Genetic Testing: DNA tests can identify gene mutations associated with BRRS.
4. Imaging: X-rays, MRIs, or ultrasounds can help detect abnormalities.
5. Skin Examination: Dermatologists may examine skin growths.
6. Bone Scans: Scans can detect overgrowth of bones.
7. Developmental Assessment: Doctors evaluate developmental milestones.
8. Psychological Testing: This assesses cognitive and emotional development.
9. Speech Evaluation: Speech therapists can evaluate speech difficulties.
10. Hormone Testing: Hormone levels may be checked, especially thyroid function.
11. Endoscopy: A tube with a camera can examine the gastrointestinal tract.
12. Echocardiogram: This ultrasound test checks the heart.
13. Colonoscopy: To detect intestinal polyps.
14. Eye Exam: Ophthalmologists assess vision and eye health.
15. Thyroid Function Tests: To monitor thyroid gland activity.
16. Blood Tests: General blood tests can provide valuable information.
17. Magnetic Resonance Angiography (MRA): To evaluate blood vessels.
18. Electrocardiogram (ECG or EKG): To monitor heart function.
19. Hormone Level Monitoring: Regular checks for hormonal imbalances.
20. Cancer Screening: Regular screening for cancer risks.

Treatment Options for BRRS:

Treatment for BRRS aims to manage and alleviate symptoms. Here are 30 common treatment options:

1. Regular Check-ups: Frequent medical check-ups are crucial.
2. Surgery for Growth Removal: Surgical removal of skin and organ growths.
3. Medications: Drugs may be prescribed to manage specific symptoms.
4. Physical Therapy: To improve muscle strength and coordination.
5. Occupational Therapy: Helps with daily tasks and fine motor skills.
6. Speech Therapy: Addresses speech and communication issues.
7. Early Intervention: Specialized programs for developmental delays.
8. Educational Support: Special education programs can aid learning.
9. Growth Hormone Therapy: To manage excessive growth.
10. Psychiatric Counseling: Addresses behavioral and emotional challenges.
11. Gastrointestinal Management: Treats intestinal polyps.
12. Heart Care: Monitoring and treatment for heart issues.
13. Thyroid Medication: To regulate thyroid function.
14. Vision Correction: Glasses or surgery may be needed.
15. Pain Management: Medications or therapies for pain relief.
16. Dietary Modifications: Adjustments to manage weight and health.
17. Hormone Replacement: For hormonal imbalances.
18. Genetic Counseling: Helps families understand the condition.
19. Weight Management: Maintaining a healthy weight is important.
20. Cancer Surveillance: Regular screenings to detect cancer early.
21. Social Support: Support groups and counseling for families.
22. Skin Care: Dermatological care for skin issues.
23. Dental Care: Monitoring and addressing oral health.
24. Bone Health: Managing bone overgrowth.
25. Sleep Management: Addressing sleep disturbances.
26. Psychosocial Support: Assistance with emotional challenges.
27. Blood Pressure Control: Monitoring and treatment.
28. Diabetes Management: If diabetes develops.
29. Respiratory Support: In cases of breathing difficulties.
30. Regular Exercise: Promotes overall health and fitness.

Medications Used in BRRS:

Medications may be prescribed to manage specific symptoms in individuals with BRRS. Here are 20 common medications:

1. Pain Relievers: For managing pain and discomfort.
2. Thyroid Medications: To regulate thyroid hormone levels.
3. Growth Hormone Therapy: Used to control excessive growth.
4. Antipsychotic Drugs: For individuals with behavioral issues.
5. Anti-seizure Medications: If seizures are present.
6. Speech Medications: To aid in speech development.
7. Skin Creams: For managing skin abnormalities.
8. Anti-inflammatory Drugs: For joint and muscle issues.
9. Heart Medications: To address heart problems.
10. Laxatives: For constipation caused by intestinal polyps.
11. Antibiotics: If infections occur.
12. Blood Pressure Medications: To regulate blood pressure.
13. Insulin: For diabetes management.
14. Pain Management Medications: Stronger pain relief when needed.
15. Hormone Replacement Therapy: For hormonal imbalances.
16. Anti-anxiety Medications: For individuals with anxiety.
17. Immunosuppressants: In some cases of organ involvement.
18. Vitamins and Supplements: To address nutritional needs.
19. Respiratory Medications: If breathing problems arise.
20. Anti-cancer Drugs: If cancer is detected, specific treatments will be prescribed.

Conclusion:

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a complex genetic condition that affects many aspects of an individual’s health and development. Understanding the causes, symptoms, diagnostic tests, treatments, and medications associated with BRRS is crucial for managing the condition effectively. If you or a loved one suspect BRRS, consult with a healthcare professional for a comprehensive evaluation and personalized care plan. Early diagnosis and appropriate interventions can greatly improve the quality of life for individuals with BRRS.

 

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.

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