Definition

What is Bannayan-Riley-Ruvalcaba syndrome?

Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males.

How common is Bannayan-Riley-Ruvalcaba syndrome?

The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Bannayan-Riley-Ruvalcaba syndrome?

The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood. Some common symptoms of Bannayan-Riley-Ruvalcaba syndrome are:

  • Macrocephaly (larger than normal sized head)
  • Intestinal polyposis (multiple benign polyps in the intestines)
  • Hamartomatous polyposis
  • Lipomas and angiolipomas (tumors below the skin made up of fatty tissue)
  • Irregular hyperpigmentation
  • Nevus
  • Pigmented skin lesion (macule) in the glans penis
  • Neoplasm of the breast
  • Short stature
  • High birth weight
  • Developmental delay
  • Mental deficiency
  • Myopathy (problems with the tone and contraction of skeletal muscles [muscles that control voluntary movements]) of the proximal muscles (the muscles in the limbs that are closest to the middle of the body)
  • Joint hyperextensibility (unusually large range of joint movement)
  • Pectus excavatum (sunken chest)
  • Scoliosis
  • Hemangiomas (red or purplish growths that consist of tangles of abnormal blood vessels)
  • Arteriovenous malformation
  • Thyroid problems
  • Seizures
  • Pectus excavatum
  • Subcutaneous hemorrhage
  • Subcutaneous nodule
  • Abnormality of the optic nerve
  • Angina pectoris
  • Anteverted nares
  • Aortic dilatation
  • Broad thumb
  • Cachexia
  • Cutis marmorata
  • Delayed gross motor development
  • Delayed skeletal maturation
  • Dolichocephaly
  • Frontal bossing
  • Hashimoto thyroiditis
  • Hypoglycemia
  • Intracranial hemorrhage (Bleeding within the skull)
  • Long philtrum
  • Lymphedema
  • Lymphoma
  • Macrotia (large ears)
  • Meningioma
  • Micrognathia
  • Multiple cafe-au-lait spots
  • Muscular hypotonia
  • Myopathy
  • Muscle tissue disease
  • Narrow palate (Narrow roof of mouth)
  • Neoplasm of the adrenal cortex
  • Neurological speech impairment
  • Short nose
  • Tall stature
  • Telangiectasia
  • Uterine neoplasm
  • Wide nose

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Bannayan-Riley-Ruvalcaba syndrome?

BRRS is caused by specific mutations in the PTEN gene. The PTEN gene provides instructions for making a protein that is found in almost all tissues in the human body. The protein acts as a tumor suppressor, which means that it plays a role in preventing cells from growing and dividing too rapidly or in an uncontrolled way.

Risk factors

What increases my risk for Bannayan-Riley-Ruvalcaba syndrome?

BRRS is inherited in an autosomal dominant pattern, which means an individual needs to only inherit one mutated copy of the PTEN gene in order to have the condition. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Bannayan-Riley-Ruvalcaba syndrome diagnosed?

Diagnostic criteria have not been established for BRRS; however, BRRS may be suspected based on the presence of signs and symptoms. Although genetic testing is available for the PTEN gene, it is  estimated that only about 65 percent of individuals with a clinical diagnosis of BRRS have a detectable PTEN gene mutation.

How is Bannayan-Riley-Ruvalcaba syndrome treated?

Treatment is based on the specific signs and symptoms present in the individual. Screening recommendations for BRRS have not been established; however, recent studies have suggested that people with BRRS, especially those with a known mutation in their PTEN gene, should undergo increased surveillance of cancer affecting the breast, thyroid, endometrial, and kidney.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Bannayan-Riley-Ruvalcaba syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 25, 2018 | Last Modified: January 25, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.