Bannayan–Riley–Ruvalcaba syndrome explained

Bannayan–Riley–Ruvalcaba syndrome
Synonyms:BRRS
Symptoms:Enlarged head
Causes:Mutations in the PTEN gene
Diagnosis:Based on signs and symptoms
Treatment:Based on symptoms

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.[1] 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.[2] [3]

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[4]

Genetics

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 [5] [6]

There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.[7]

The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.[8]

Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana[9]

Diagnosis

In terms of diagnosing Bannayan–Riley–Ruvalcaba syndrome there is no current method outside the physical characteristics that may be present as signs/symptoms.[10] There are, however, multiple molecular genetics tests (and cytogenetic test) to determine Bannayan–Riley–Ruvalcaba syndrome.[11]

Differential diagnosis

The differential diagnosis for BRRS consists of the following:[12]

Treatment

In terms of 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:[10]

See also

Further reading

Notes and References

  1. Web site: Bannayan-Riley-Ruvalcaba syndrome . live . https://web.archive.org/web/20161220095620/https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome . 20 December 2016 . 9 December 2016 . Genetics Home Reference.
  2. Book: NORD guide to rare disorders . 2003 . Lippincott Williams & Wilkins . 9780781730631 . Disorders . the National Organization for Rare . Philadelphia . 240 . en . 9 December 2016 . https://web.archive.org/web/20230112034607/https://books.google.com/books?id=99YPDvFWBB0C&q=bannayan+riley+ruvalcaba+syndrome+sign+and+symptom&pg=PA240 . 12 January 2023 . live.
  3. Eng . Charis . 1 January 1993 . PTEN Hamartoma Tumor Syndrome . live . GeneReviews . 20301661 . https://web.archive.org/web/20201219125127/https://www.ncbi.nlm.nih.gov/books/NBK1488/#phts.Clinical_Description . 19 December 2020 . 9 December 2016. update 2016
  4. Hobert . Judith A . Eng . Charis . 6 August 2009 . PTEN hamartoma tumor syndrome: An overview . Genetics in Medicine . 11 . 10 . 687–694 . 10.1097/GIM.0b013e3181ac9aea . 19668082 . free.
  5. Web site: PTEN gene . live . https://web.archive.org/web/20161220100333/https://ghr.nlm.nih.gov/gene/PTEN . 20 December 2016 . 9 December 2016 . Genetics Home Reference.
  6. Web site: OMIM Entry - # 153480 - BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS . live . https://web.archive.org/web/20170310151603/http://www.omim.org/entry/153480 . 10 March 2017 . 9 December 2016 . www.omim.org.
  7. Edmondson . Andrew C. . Kalish . Jennifer M. . 9 December 2016 . Overgrowth Syndromes . Journal of Pediatric Genetics . 4 . 3 . 136–143 . 10.1055/s-0035-1564440 . 2146-4596 . 4918719 . 27617124.
  8. Book: Inherited Metabolic Diseases: A Guide to 100 Conditions . Radcliffe Publishing . 2007 . 978-1-84619-099-5 . Hannigan . Steve . 101 . 2020-11-05 . https://web.archive.org/web/20230112034607/https://books.google.com/books?id=lQvUH3ALdJcC&q=Ruvalcaba-Myhre-Smith+syndrome&pg=PA101 . 2023-01-12 . live.
  9. Bannayan . G. A. . 1 July 1971 . Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome . Archives of Pathology . 92 . 1 . 1–5 . 0363-0153 . 5091590.
  10. Web site: Bannayan-Riley-Ruvalcaba syndrome Genetic and Rare Diseases Information Center(GARD) – an NCATS Program . live . https://web.archive.org/web/20201209063135/https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome . 9 December 2020 . 9 December 2016 . rarediseases.info.nih.gov.
  11. Web site: Bannayan-Riley-Ruvalcaba syndrome - Conditions - GTR - NCBI . live . https://web.archive.org/web/20201209091254/https://www.ncbi.nlm.nih.gov/gtr/conditions/C0265326/ . 9 December 2020 . 9 December 2016 . www.ncbi.nlm.nih.gov.
  12. Web site: RESERVED . INSERM US14 -- ALL RIGHTS . Orphanet: Bannayan Riley Ruvalcaba syndrome . live . https://web.archive.org/web/20161220103151/http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=109 . 20 December 2016 . 9 December 2016 . www.orpha.net.

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