BRRS was previously described as three separate conditions: Riley-Smith syndrome, Bannayan-Zonana syndrome and Ruvalcaba-Myhre-Smith syndrome. BRRS is now known to be a component of PTEN hamartoma tumor syndrome when a germline PTEN mutation is also present. 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.[rx]
Bannayan-Zonana Syndrome (BZS) is a rare genetic condition that can affect various aspects of a person’s health. In this article, we will provide clear and simple explanations of what Bannayan-Zonana Syndrome is, its different types, causes, symptoms, diagnostic tests, treatments, and medications.
Bannayan-Zonana Syndrome, often abbreviated as BZS, is a genetic disorder that primarily affects a person’s skin, intestines, and growth. It is considered a rare condition and can lead to various health challenges. Let’s explore the key aspects of this syndrome in plain language.
Types of Bannayan-Zonana Syndrome
There are two main types of Bannayan-Zonana Syndrome:
- Bannayan-Riley-Ruvalcaba Syndrome (BRRS): This type of BZS is characterized by multiple noncancerous growths called hamartomas, which can form in various organs, including the intestines.
- Cowden Syndrome (CS): Cowden Syndrome is also a type of Bannayan-Zonana Syndrome and is closely related to BRRS. It involves an increased risk of developing certain cancers and is often associated with skin abnormalities.
What Causes Bannayan-Zonana Syndrome?
Bannayan-Zonana Syndrome is caused by mutations in specific genes, most commonly the PTEN gene. These mutations can occur randomly or be inherited from a parent who also has the syndrome. PTEN gene mutations disrupt the body’s ability to regulate cell growth and division, leading to the characteristic features of BZS.
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.[rx]
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.[rx]
Common Symptoms of Bannayan-Zonana Syndrome
Bannayan-Zonana Syndrome can manifest with various symptoms, although not all individuals with BZS will experience the same ones. Here are some common symptoms in plain language:
- Skin Abnormalities: People with BZS may have unusual skin growths, like warts, moles, or thickened patches.
- Intestinal Issues: BZS can cause polyps (small growths) to form in the intestines, which may lead to digestive problems.
- Enlarged Head: Some individuals with BZS may have a larger head size compared to others.
- Developmental Delays: Children with BZS might experience delays in reaching developmental milestones, such as walking and talking.
- Benign Tumors: Noncancerous tumors called hamartomas can develop in various organs, including the thyroid gland.
- Intellectual Disability: In some cases, BZS can affect a person’s intellectual abilities, causing learning difficulties.
- Overgrowth: BZS may lead to excessive growth of certain body parts, like hands, feet, or tongue.
- Speech and Language Problems: Children with BZS might have speech and language difficulties.
- Increased Cancer Risk: Individuals with BZS, especially Cowden Syndrome, have a higher risk of developing certain cancers, such as breast and thyroid cancer.
- Low Muscle Tone: Some people with BZS may have weak muscles, which can affect their physical abilities.
How is Bannayan-Zonana Syndrome Diagnosed?
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.[rx]
Diagnosing Bannayan-Zonana Syndrome involves a combination of clinical evaluation and genetic testing. Here’s how it works in simple terms:
- Medical Evaluation: Doctors will assess the patient’s medical history, symptoms, and physical characteristics.
- Genetic Testing: A blood sample is taken to check for mutations in the PTEN gene. Finding a mutation confirms the diagnosis of BZS.
- Imaging: Imaging tests like MRI or ultrasound may be performed to look for internal growths or abnormalities.
Treatment Options for Bannayan-Zonana Syndrome
While there is no cure for Bannayan-Zonana Syndrome, various treatments and interventions can help manage its symptoms and associated health issues:
- Surgical Removal: Surgery may be required to remove problematic growths, such as intestinal polyps or skin abnormalities.
- Medications: Some medications can be prescribed to control symptoms like pain or inflammation.
- Physical Therapy: For individuals with low muscle tone or developmental delays, physical therapy can improve strength and mobility.
- Speech Therapy: Speech therapy can help those with speech and language difficulties communicate better.
- Monitoring for Cancer: People with Cowden Syndrome should undergo regular cancer screenings to detect and treat cancer early if it develops.
- Genetic Counseling: Genetic counselors can provide information and support to families dealing with Bannayan-Zonana Syndrome, including discussing the risk of passing it on to future generations.
Medications for Bannayan-Zonana Syndrome
While there are no specific drugs to treat BZS itself, some medications may be used to manage related symptoms and complications:
- Pain Relief: Over-the-counter pain relievers like ibuprofen or prescription medications can help alleviate pain associated with BZS.
- Anti-Inflammatory Drugs: Inflammatory conditions caused by BZS can be managed with medications like corticosteroids.
- Thyroid Medications: If BZS affects the thyroid gland, thyroid hormone replacement therapy may be necessary.
- Anti-Seizure Medications: In cases where individuals with BZS experience seizures, anti-seizure
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.