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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Management and treatment is multidisciplinary. The affected individual should be monitored for cancer of: Deficiencies of intracellular signaling peptides and proteins Soft tissue disorders Melanocytic nevi bannayan-riley-ruvaocaba neoplasms Syndromes affecting head size Syndromes affecting the nervous system Syndromes affecting the gastrointestinal tract Syndromes with tumors Rare syndromes.

To shndrome knowledge, this is the first report of BRRS tumors causing airway obstruction that required surgical intervention. Antenatal diagnosis is possible for at-risk pregnancies if the disease causing mutation is discovered in an affected family member.

Arch Otolaryngol Head Neck Surg. Abnormality of the cardiovascular system. Our website uses cookies to enhance your experience. This is a consideration especially for women whose breast tissue is so dense that their physicians bannayan-rikey-ruvalcaba not feel comfortable with traditional breast cancer screening techniques, or for those who have had repeated breast biopsies.

Petty, MD ; Marci M. Sign in to save your bannayan-rilry-ruvalcaba Sign in to your personal account. Transitional cell carcinoma of the bladder. Specialty scores for Bannayan Riley Ruvalcaba Syndrome. Although the risk is much lower than that for women, we would recommend that the men perform monthly breast self-examination.

Everyone has two copies of the PTEN gene. D ICD – Sturge—Weber syndrome Von Hippel—Lindau disease. Create a personal account to register for email alerts with links to free full-text articles. Sign in to make a comment Sign in to your personal account. Clinical description BRRS shares some of the clinical characteristics of Cowden syndrome CS; see this term but with differing frequencies. The skin findings are often present by the time a patient is in their late 20s.


There are no specific criteria for diagnosis of BRRS but it is usually determined by the clinical presentation. Bannayan—Riley—Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas multiple hemangiomasand intestinal polyps.

A previously undescribed congenital syndrome”.

Bannayan–Riley–Ruvalcaba syndrome

BRRS tends to present in childhood. Sign in to download free article PDFs Sign in to access your subscriptions Sign in to your personal account.

Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression [6] [7]. Views Read Edit View history.

PTEN Hamartoma Tumor Syndrome, Cowden Syndrome, and Bannayan-Riley-Ruvalcaba Syndrome

This gene which regulates cell growthwhen not working properly can lead to hamartomas. Lhermitte-Duclos disease LDD is a very rare, benign non-cancerous brain tumor, called a dysplastic gangliocytoma of the cerebellum, that is characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

The benign growths commonly affect the breasts, uterus, thyroid gastrointestinal tract, skin, tongue, gums, and neurologic system. InfancyNeonatal ICD Additional information Further information on this disease Classification s 7 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 7. For patients with Cowden syndrome who do not have a PTEN gene mutation, family members may need evaluation by a medical geneticist to determine if they also meet the clinical criteria for a diagnosis of Cowden syndrome.

Abnormality of the parathyroid gland. BRRS is inherited autosomal dominantly. Patients are also at increased risk to develop Lhermitte-Duclos disease, a benign tumor of the cerebellum the part of the brain that controls coordination of movement. It is also important to pay attention to neurogical and vascular malformations as well as GI symptoms.


Some women at increased risk for breast cancer consider prophylactic mastectomy removal of the breasts to prevent cancer. Purchase access Subscribe to JN Learning for one year. Create a free personal account to make a comment, download free article PDFs, sign up for alerts and more.

Melanoma General Population Risk: This evaluation includes an evaluation of their personal history, exploration of the family history, and genetic testing if a PTEN gene mutation has previously been identified in the family.

This team may include endocrinologists, gastroenterologists, surgeons, gynecologists, breast health specialists, primary care physicians, geneticists, genetic counselors, hematologists, and oncologists. Endometrial uterine General Population Risk: LDD manifests most commonly bannayan-riley-ruvalcabz the third and fourth decades of life.

Purchase access Subscribe now. Abnormality of neuronal migration. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 71 Orphan drug s 0. Diagnostic methods There are no specific criteria for diagnosis of BRRS but it is usually determined by the clinical presentation.

Symptoms may include headache, nausea, cerebellar dysfunction, hydrocephalusataxia problems with movement and coordinationand visual disturbances. A common finding in Cowden syndrome is a large head size macrocephaly. Home Bannayan Riley Ruvalcaba Syndrome.

Recognition of this condition by the otolaryngologist—head and neck surgeon and referral to a geneticist is important to allow diagnosis and facilitate aggressive bannayann-riley-ruvalcaba surveillance. The genetics of the Bannayan—Riley—Ruvalcaba syndrome is bannayan-riley-uvalcaba, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition.

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.