BANNAYAN-RILEY-RUVALCABA SYNDROME (BRRS)

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that results from a change in your PTEN tumor suppressor gene. Symptoms vary greatly, but may include high birth weight, macrocephaly (large head), hamartomas (tumor-like growths) and intellectual disability. There’s no specific treatment. Rather, treatment involves managing symptoms.

SYMPTOMS

Bannayan-Riley-Ruvalcaba syndrome symptoms vary significantly and may include:

• High birth weight and length.
• Macrocephaly (large head).
• Pigmented macules (freckles) on your penis.
• Low muscle tone (hypotonia).
• Developmental delays in speech and/or motor skills.
• Intellectual disabilities (about 50% of people with BRRS).
• Autism spectrum disorder (up to 20% of children diagnosed with autism spectrum disorder have a mutation in their PTEN gene).
• Muscle weakness.
• Hamartomas (noncancerous growths made of abnormal cells and tissues) in your intestinal tract.
• Hyperflexible joints.
• Seizures.
• Pectus excavatum (a condition in which your breastbone sinks into your chest).
• Scoliosis.
• Acanthosis nigricans (dark discoloration in your body’s folds and creases).
• Lipomas (fatty tumors located just beneath your skin).
• Angiolipomas (noncancerous growths made of fat and blood vessels).
• Hemangiomas (birthmarks made of extra blood vessels under your skin).

CAUSES

BRRS can occur for two reasons:

1. There’s a mutation in your PTEN gene. (This is the most common cause.)
2. There’s a large deletion of genetic material that includes all or part of your PTEN gene. (This occurs in about 10% of cases.)

Your PTEN gene produces a protein that slows the growth of tumors. When this gene is missing or not working properly, your cells can divide uncontrollably, resulting in the development of hamartomas and other cancerous and noncancerous tumors.

HOMOEOPATHIC APPROACH

Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When  is concerned there are many effective medicines available in Homoeopathy , but the selection depends upon the individuality of the patient , considering mental and physical symptoms

Few homoeopathic medicine can be thought of in the management of BRRS  are:

phosphorus, silicea, baryta carb., helleborus, stramonium, zinc met., etc.