Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and. SUMMARY: Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and. Bannayan-Riley-Ruvalcaba syndrome, Authors: Jean-Loup Huret. Published in: Atlas Genet Cytogenet Oncol Haematol.

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Retrieved 9 December symdrome Bannayan-Riley-Ruvalcaba syndrome BRRS is a rare, autosomal dominant condition characterized by macrocephaly, benign hamartomatous tumors, pigmented penile macules, lipomas, hemangiomas, and cognitive deficits. Find doctors, hospitals and clinical trials for Bannayan Riley Ruvalcaba Syndrome. Are you interested in exploring ongoing clinical trials for Bannayan Riley Ruvalcaba Syndrome at the University of Alabama at Birmingham?

Airway Obstruction Caused by PTEN Hamartoma (Bannayan-Riley-Ruvalcaba) Syndrome

Fibroadenoma of the breast. Privacy Policy Terms of Use. For those who are PTEN negative we recommend baseline ultrasound at age 18; if thyroid ultrasound is normal follow-up can be done by physical bannagan-riley-ruvalcaba of the thyroid with their primary care provider.

Diagnostic methods There are no specific criteria for diagnosis of BRRS but it is usually determined by the clinical presentation. Help us improve our data based on your experience. Neoplasm of the nervous system. Create a free personal account to access your subscriptions, sign up for alerts, and more. Register for email alerts with links to free full-text articles Access PDFs of free articles Manage your interests Save searches and receive search alerts.


Endometrial uterine General Population Risk: Although the risk is much lower than that for women, we would recommend that the men perform monthly breast self-examination. As with most cancer screening, these recommendations will hopefully help to detect cancers at an earlier stage when they are more treatable, but they cannot prevent the cancer from occurring.

Everyone has two copies of the PTEN gene.

Once a mutation is identified in a patient, his or her family members can be tested for that mutation in order to determine who else in the family has PHTS. Mutations in the PTEN gene [1]. Symptoms may include headache, nausea, cerebellar dysfunction, hydrocephalusataxia problems with movement and coordinationand visual disturbances.

Once a germline PTEN mutation is identified, the patient should undergo a screening thyroid ultrasound exam. This is a consideration especially for women whose breast tissue is bannzyan-riley-ruvalcaba dense that their physicians do not feel comfortable with traditional breast cancer screening techniques, or for those who have had repeated breast biopsies.

Bannayan and Jonathan Zonana [10].

Orphanet: Bannayan Riley Ruvalcaba syndrome

Both upper syndroms and colorectal polyps are very common in persons with PTEN mutations. Some women at increased risk for breast cancer consider prophylactic mastectomy removal of the breasts to prevent cancer. Get free access to newly published articles. Sturge—Weber syndrome Von Hippel—Lindau disease.


The father developed refractory papillary lymphoid hyperplasia of the oropharynx and hypopharynx and has been tracheotomy dependent for more than 10 years, whereas the son’s obstructive sleep apnea resolved after adenotonsillectomy.

Women who are PTEN positive should also see a gynecologic oncologist to discuss what kind of screening for endometrial cancer should be performed. Specialised Social Services Eurordis directory. The affected individual should be monitored for cancer of: OncologyMedical genetics. These criteria are updated frequently based on new research. Based on signs and symptoms [2]. Clinical description BRRS shares some of the clinical characteristics of Cowden syndrome CS; see this term but with bannaysn-riley-ruvalcaba frequencies.

Transitional cell carcinoma of the bladder. Genetic counseling can be offered to patients with PTEN mutations and asymptomatic family members should also be tested for the mutation to identify those that need to be monitored before symptom onset. Copyright American Medical Association. Management and treatment is multidisciplinary.

Journal of Pediatric Genetics.