Bannayan-Riley-Ruvalcaba Syndrome

What is Bannayan Riley Ruvalcaba syndrome?

Bannayan Riley Ruvalcaba syndrome is  an inherent, rarely found clinical condition, which has characteristic features of  hamartomas formation in the skin or mucous lining of the small and large intestinal wall. Other than this specific symptom, several other associated multiple symptoms may arise depending upon case to case variation.

The onset of Bannayan-Riley-Ruvalcaba syndrome syndrome is in the early stage of life. After childbirth, some characteristic feature can distinct the affected child with other normal healthy child. The noticeable features are enlarged head with increase birth weight (4 kg) and body surface area is also more. After increasing the age, affected child growth become slow down and matches with the physical structure of other normal children. But, some noticeable changes are observed like the affected child has hypotonia (decreased muscle tone) and/or cognitive impairment and delayed mental development.

Vascular changes, thyroid related problem and lipomas or lipid containing tumors are associated with Bannayan-Riley-Ruvalcaba. Freckling of the penis is present in male children.

Hemangiomas, or elevate red colored birthmarks is developed due to blood vessel alteration. The development of the hemangiomas can present on the skin or on the internal structure of the body.

If Bannayan-Riley-Ruvalcaba syndrome affected patient also has a mutategenic problem  in the PTEN gene, then this is associated with the Cowden syndrome. (1, 2)

Bannayan Riley Ruvalcaba Syndrome


Hamartomatous polyps are one of the classic characteristics of the Bannayan Riley Ruvalcaba  syndrome. These polyps are non-cancerous fat accumulated lumps, which is commonly grown on the skin and also present in the GI tract lining. The symptoms are enlisted in the below mentioned table, but it is not certain that every case all the below mentioned symptoms are clinically obtainable, some are prominent and some may suppressive in nature.

Division Symptomatic features
Physical development Birth weight is higher than the normal newborn, it may be 4kg in average body weight of the infant.
Length of the body is much higher than the normal birth length of the body weight
Body growth become normal at the adult age
Head size The head size is increaseds than the normal
Muscular development Low muscular tone (hyptonia), which cause low body balance
Muscular myopathy which is caused due to defective muscle cell structure and metabolism leads to different types of weakness and malfunctioning.
Nervous system disorders Delayed motor functioning, speech development and mild delayed mental development
Seizure attack
Cognitive functioning Learning disability due to cognitive impairment
GI tract Intestinal wall has hamartomatous polyps
Skeletal system Joint hyperextensibility: the final extent  of the standard continuum of the joint movement range of
Pectus Excavatum: Curved chest wall due to deform ribs and sternum arrangement
Scoliosis: Side wise deviation of the spinal bone
Dermatological alteration Hyperpigmentantion- Higher secretion of melanin pigment.

Freckling: Male affected individual usually have flat marks on penis

Angiolipoma-  is a formation of painful nodules in the  subcutaneous layer of the skin associated with vascular structure,and quite similar to lipoma.


There is no specific test for detection of the Bannayan riley ruvalcaba syndrome, but it is frequently diagnosed by the clinical sign and symptoms. The presence of disorder is standardized by the genetic mutation of the PTN and child is detected by PTEN Scoring System and are profoundly supported on the existence or nonexistence of increased sized head (macrocephaly) and the existence of any one symptom of the following symptoms, including dermatological features, autism spectrum disorder, vascular abnormalities and/or gastrointestinal polyposis. A mutagenic alteration of PTEN validate that the patients having Bannayan riley ruvalcaba syndrome (BRRS) fit in to the PHTS group.


Associated co-morbidities, which includes Lhermitte-Duclos syndrome (Benign cell growth, which provides effect into the posterior fossa and cause behavioral syndromes), Juvenile polyposis syndrome (this is described by the tendency to formation of hamartomatous polyps in the GI (gastrointestinal) tract, Peutz-Jeghers syndrome (PJS; intestinal polyposis syndrome), Birt-Hogg-Dube syndrome (certain type of cancer in the skin and lungs), Proteus syndrome (uncontrolled excessive growth of skin, bones or other tissues), Cowden syndrome (numerous benign tumor growths called hamartomas), Gorlin syndrome (signify a chain of multi-organ defects and leads to benign and malignant cell growth) and neurofibromatosis type 1 (is a disease state described by modifying the melanin (pigmenting agent) in the skin and promotes the growth of tumors).

It is always advisable to conduct the antenatal detection, if responsible genetic mutation findings are already found within family members, because this it indicates high risk factors.

A multi facet treatment approach is required to treat the syndrome, as this syndrome is associated with risk factors of certain cancer growth, which are related to the abnormal PTEN mutation. Different screening tests, including colonoscopy, biennial  test, breast tumor examination, whole renal system assessment. The usual recommendation for the screening is in between 35-40 years of age. It is also essential component to consider the attainment of  attention to neurological and vascular disorder and also concern about GI symptoms.
The prospects are unidentified and is reliant on early diagnosis and likely genotype. (3, 4)


  1. Bannayan-Ruvalcaba-Riley Syndrome (BRRS); Retrieve from:
  2. Bannayan-Riley-Ruvalcaba syndrome; Retrieve from:
  3. Bannayan-Riley-Ruvalcaba syndrome; Retrieve from:
  4. Bannayan-Riley-Ruvalcaba syndrome; Retrieve from:

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