|Classification and external resources|
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner. The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes.
Signs and symptoms
Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present. The head enlargement does not cause widening of the ventricles or raised intracranial pressure; these individuals have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue.[medical citation needed]
Some individuals have thyroid issues consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, most lesions are slowly growing. Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression
The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition. This gene which regulates cell growth, when not working properly can lead to hamartomas. PTEN chromosomal location is 10q23.31, while the molecular location is 87,863,438 to 87,971,930  There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.
In terms of diagnosing Bannayan–Riley–Ruvalcaba syndrome there is no current method outside the physical characteristics that may be present as signs/symptoms. There are, however, multiple molecular genetics tests (and cytogenetic test) to determine Bannayan–Riley–Ruvalcaba syndrome.
The differential diagnosis for BRRS consists of the following:
In terms of treatment/management one should observe what signs or symptoms are present and therefore treat those as there is no other current guideline. The affected individual should be monitored for cancer of:
- Reference, Genetics Home. "Bannayan-Riley-Ruvalcaba syndrome". Genetics Home Reference. Retrieved 9 December 2016.
- Eng, Charis (1 January 1993). "PTEN Hamartoma Tumor Syndrome". GeneReviews(®). University of Washington, Seattle. Retrieved 9 December 2016.update 2016
- Disorders, ed. by the National Organization for Rare (2003). NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins. p. 240. ISBN 9780781730631. Retrieved 9 December 2016.
- Hobert, Judith A; Eng, Charis (6 August 2009). "PTEN hamartoma tumor syndrome: An overview". Genetics in Medicine. 11 (10): 687–694. doi:10.1097/GIM.0b013e3181ac9aea. PMID 19668082. Retrieved 9 December 2016.
- "OMIM Entry - # 153480 - BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS". www.omim.org. Retrieved 9 December 2016.
- Reference, Genetics Home. "PTEN gene". Genetics Home Reference. Retrieved 9 December 2016.
- Edmondson, Andrew C.; Kalish, Jennifer M. (9 December 2016). "Overgrowth Syndromes". Journal of Pediatric Genetics. 4 (3): 136–143. doi:10.1055/s-0035-1564440. ISSN 2146-4596. PMC . PMID 27617124.
- Hannigan, Steve, ed. (2007). Inherited Metabolic Diseases: A Guide to 100 Conditions. Radcliffe Publishing. p. 101. ISBN 1-84619-099-1.
- Bannayan, G. A. (1 July 1971). "Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome". Archives of Pathology. 92 (1): 1–5. ISSN 0363-0153. PMID 5091590.
- "Bannayan-Riley-Ruvalcaba syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 9 December 2016.
- "Bannayan-Riley-Ruvalcaba syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 9 December 2016.
- RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Bannayan Riley Ruvalcaba syndrome". www.orpha.net. Retrieved 9 December 2016.
- Gilbert-Barness, Enid; Kapur, Raj P.; Oligny, Luc Laurier; Siebert, Joseph R. (2007). Potter's Pathology of the Fetus and Infant: 2-Volume Set. Edinburgh: Elsevier Health Sciences. ISBN 9780323076166. Retrieved 9 December 2016.
- (eds.), Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Di Rocco,; Castroviejo, Ignacio Pascual; Rocco, Concezio Di (2008). Neurocutaneous disorders phakomatoses and hamartoneoplastic syndromes (revised. ed.). Wien: Springer. ISBN 9783211695005. Retrieved 9 December 2016.