Bannayan-Riley-Ruvalcaba Syndrome: Description, Causes and Risk Factors:
Bannayan-Riley-Ruvalcaba Syndrome is a rare hereditary condition that most often can cause polyps (hamartomas) of the small and large intestine, an increased head size (macrocephaly), benign fatty tumors (lipomas), blood vessel changes (hemangiomas), and thyroid problems. Males with BRRS often have some freckling on the penis.
Bannayan-Riley-Ruvalcaba syndrome usually caused by a mutation in a gene known as PTEN. The PTEN gene functions as a tumor suppressor. Tumor suppressor genes normally ensure that cells do not grow or divide more than they are supposed to. Only one copy of a tumor suppressor gene is needed to control cell growth. This means that when a person has inherited one PTEN gene with a mutation, the other, functional copy is still able to successfully control cell growth. However, if anything damages the second, functional copy of the PTEN gene in any cell, that person can develop either a benign and cancerous growth. Thus, although a person with BRRS inherits an increased risk for tumor development, they do not inherit the tumor or cancer itself.
Mutations in this gene have been found in about 60 percent of all people with a clinical diagnosis of Bannayan-Ruvalcaba-Riley syndrome and about 40-80 percent of people with a clinical diagnosis of Cowden syndrome. The fact that both conditions are caused by mutations in the same gene explains why they share many similarities and why a physician must consider both possibilities when deciding upon a diagnosis and your health care management plan.
The features of BRRS usually start showing up in childhood. Babies are typically born with a larger head, longer body, and a weight over 9 pounds (4kg). After birth their growth slows and as a result, children and adults are of normal height and size. Sometimes children will also have decreased muscle tone (hypotonia) and/or learning difficulties and developmental delay. Benign fatty tumors under the skin or in the abdomen and intestinal polyps (most commonly hamartomatous polyps) are common. Hemangiomas, or raised red birthmarks caused by blood vessel changes, may also be present. Hemangiomas can be either on internal organs or on the skin.
Typical clinical features of Bannayan-Riley-Ruvalcaba syndrome include macrocephaly, multiple lipoma
s, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis. At least half of the patients affected with Bannayan-Riley-Ruvalcaba phenotype have hypotonia, delayed psychomotor development, mild-to-severe mental deficiency, and seizures. Bannayan-Riley-Ruvalcaba phenotype exhibits a number of clinical similarities to Cowden disease (CD), a dominant cancer predisposing syndrome, also known as multiple hamartoma syndrome.
Recommendations for cancer screening for people with Cowden syndrome are updated and published each year by the National Comprehensive Cancer Network (NCCN). In many cases, screening can help manage benign growths and detect any cancer at an early stage, when it is best treated.
Because of the risk for breast cancer, women with CS should have increased breast cancer screening. Currently this includes performing monthly breast self-examination, getting a breast exam from your doctor every 6 months beginning at 25 years of age, and an annual mammogram and breast MRI beginning at 30 to 35 years of age (or 5-10 years before the earliest known breast cancer in the family; whichever comes first). For some women with dense breast tissue that can make it harder to detect breast cancers
, preventative mastectomy may be an option. Women should also be aware of the signs and symptoms of possible uterine cancer, such as abnormal vaginal bleeding, pelvic pain, pain during intercourse and painful urination.
Both men and women should receive thyroid cancer screening that includes an ultrasound of the thyroid at age 18 and annual thyroid palpation (having a doctor feel the thyroid) after that. You might also consider having an annual ultrasound. Because thyroid nodules can be a common feature, an experienced endocrinologist should evaluate any thyroid nodules to determine if they require follow-up, such as a biopsy.
Skin cancer screenings should also be considered. Yearly visits to a dermatologist can help manage the CS skin findings and also screen for skin cancer.
While there are no standardized recommendations for how the healthcare of people with BRRS should be managed, it is currently suggested that people with BRRS who have a documented PTEN gene mutation should follow the screening guidelines for Cowden syndrome. At present it is not clear whether people who have a clinical diagnosis of BRRS but do not have a detectable PTEN mutation should follow these guidelines as well. You should discuss this further with your healthcare providers.
The treatment of patients with BRRS is usually symptomatic. Gastrointestinal polyps may require removal, and surveillance of the gastrointestinal tract should be considered. There is a predisposition to cancer of the breast, prostate, and thyroid in Cowden disease. A similar predisposition for the development of malignant tumors in BRRS during adulthood is possible, suggesting that affected children should have regular medical follow-up.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.