View source for Bannayan–Riley–Ruvalcaba syndrome

{{Infobox medical condition (new)
| name            = Bannayan–Riley–Ruvalcaba syndrome
| synonyms        = BRRS
| image           = File:Autosomal dominant - en.svg
| caption         = Autosomal dominant is the manner in which this condition is inherited
| pronounce       =
| field           =
| symptoms        = Enlarged head<ref name=nor/>
| complications   =
| onset           =
| duration        =
| types           =
| causes          = Mutations in the PTEN gene <ref name=muta/>
| risks           =
| diagnosis       = Based on signs and symptoms<ref name=nih/>
| differential    =
| prevention      =
| treatment       = Based on symptoms<ref name=nih/>
| medication      =
| prognosis       =
| frequency       =
| deaths          =
}}
'''Bannayan–Riley–Ruvalcaba syndrome''' ('''BRRS''') is a rare [[overgrowth syndrome]] and  [[hamartomatous]] disorder with occurrence of multiple subcutaneous [[lipoma]]s, [[macrocephaly]] and [[hemangioma]]s. The disease is inherited in an [[autosomal dominant]] manner.<ref>{{Cite web |title=Bannayan-Riley-Ruvalcaba syndrome |url=https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome |url-status=live |archive-url=https://web.archive.org/web/20161220095620/https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome |archive-date=20 December 2016 |access-date=9 December 2016 |website=Genetics Home Reference}}</ref>
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)|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.<ref name=pten/>
==Signs and symptoms==
Bannayan–Riley–Ruvalcaba syndrome is associated with [[macrocephaly|enlarged head]] and benign [[mesoderm]]al [[hamartoma]]s (multiple [[hemangioma]]s, and [[intestinal polyp]]s). [[Dysmorphy]] as well as delayed neuropsychomotor development can also be present.<ref name="nor">{{Cite book |url=https://books.google.com/books?id=99YPDvFWBB0C&q=bannayan+riley+ruvalcaba+syndrome+sign+and+symptom&pg=PA240 |title=NORD guide to rare disorders |date=2003 |publisher=Lippincott Williams & Wilkins |isbn=9780781730631 |editor-last=Disorders |editor-first=the National Organization for Rare |location=Philadelphia |page=240 |language=en |access-date=9 December 2016 |archive-url=https://web.archive.org/web/20230112034607/https://books.google.com/books?id=99YPDvFWBB0C&q=bannayan+riley+ruvalcaba+syndrome+sign+and+symptom&pg=PA240 |archive-date=12 January 2023 |url-status=live}}</ref><ref name="pten">{{Cite journal |last=Eng |first=Charis |date=1 January 1993 |title=PTEN Hamartoma Tumor Syndrome |url=https://www.ncbi.nlm.nih.gov/books/NBK1488/#phts.Clinical_Description |url-status=live |journal=GeneReviews |pmid=20301661 |archive-url=https://web.archive.org/web/20201219125127/https://www.ncbi.nlm.nih.gov/books/NBK1488/#phts.Clinical_Description |archive-date=19 December 2020 |access-date=9 December 2016}}update 2016</ref>
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<ref>{{Cite journal |last=Hobert |first=Judith A |last2=Eng |first2=Charis |date=6 August 2009 |title=PTEN hamartoma tumor syndrome: An overview |journal=Genetics in Medicine |volume=11 |issue=10 |pages=687–694 |doi=10.1097/GIM.0b013e3181ac9aea |pmid=19668082 |doi-access=free}}</ref><ref name=om/>
==Genetics==
[[File:Pten.jpg|thumb|left|200 px|PTEN]]
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 <ref name="muta">{{Cite web |title=PTEN gene |url=https://ghr.nlm.nih.gov/gene/PTEN |url-status=live |archive-url=https://web.archive.org/web/20161220100333/https://ghr.nlm.nih.gov/gene/PTEN |archive-date=20 December 2016 |access-date=9 December 2016 |website=Genetics Home Reference}}</ref><ref name="om">{{Cite web |title=OMIM Entry - # 153480 - BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS |url=http://www.omim.org/entry/153480 |url-status=live |archive-url=https://web.archive.org/web/20170310151603/http://www.omim.org/entry/153480 |archive-date=10 March 2017 |access-date=9 December 2016 |website=www.omim.org}}</ref>
There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.<ref>{{Cite journal |last=Edmondson |first=Andrew C. |last2=Kalish |first2=Jennifer M. |date=9 December 2016 |title=Overgrowth Syndromes |journal=Journal of Pediatric Genetics |volume=4 |issue=3 |pages=136–143 |doi=10.1055/s-0035-1564440 |issn=2146-4596 |pmc=4918719 |pmid=27617124}}</ref>
The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.<ref>{{Cite book |url=https://books.google.com/books?id=lQvUH3ALdJcC&q=Ruvalcaba-Myhre-Smith+syndrome&pg=PA101 |title=Inherited Metabolic Diseases: A Guide to 100 Conditions |publisher=Radcliffe Publishing |year=2007 |isbn=978-1-84619-099-5 |editor-last=Hannigan |editor-first=Steve |page=101 |access-date=2020-11-05 |archive-url=https://web.archive.org/web/20230112034607/https://books.google.com/books?id=lQvUH3ALdJcC&q=Ruvalcaba-Myhre-Smith+syndrome&pg=PA101 |archive-date=2023-01-12 |url-status=live}}</ref>
Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana<ref>{{Cite journal |last=Bannayan |first=G. A. |date=1 July 1971 |title=Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome |journal=Archives of Pathology |volume=92 |issue=1 |pages=1–5 |issn=0363-0153 |pmid=5091590}}</ref>
==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.<ref name="nih">{{Cite web |title=Bannayan-Riley-Ruvalcaba syndrome {{!}} Genetic and Rare Diseases Information Center(GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome |url-status=live |archive-url=https://web.archive.org/web/20201209063135/https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome |archive-date=9 December 2020 |access-date=9 December 2016 |website=rarediseases.info.nih.gov}}</ref> There are, however, multiple [[molecular genetics]] tests (and [[cytogenetic]] test) to determine Bannayan–Riley–Ruvalcaba syndrome.<ref>{{Cite web |title=Bannayan-Riley-Ruvalcaba syndrome - Conditions - GTR - NCBI |url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0265326/ |url-status=live |archive-url=https://web.archive.org/web/20201209091254/https://www.ncbi.nlm.nih.gov/gtr/conditions/C0265326/ |archive-date=9 December 2020 |access-date=9 December 2016 |website=www.ncbi.nlm.nih.gov}}</ref>
===Differential diagnosis===
The differential diagnosis for BRRS consists of the following:<ref>{{Cite web |last=RESERVED |first=INSERM US14 -- ALL RIGHTS |title=Orphanet: Bannayan Riley Ruvalcaba syndrome |url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=109 |url-status=live |archive-url=https://web.archive.org/web/20161220103151/http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=109 |archive-date=20 December 2016 |access-date=9 December 2016 |website=www.orpha.net}}</ref>
{{columns-list|colwidth=30em|
* [[Juvenile polyposis syndrome]]
* [[Peutz–Jeghers syndrome]]
* [[Proteus syndrome]]
* [[Neurofibromatosis 1]]
* [[Cowden syndrome]]
}}
==Treatment==
[[File:Kidney Cross Section.png|thumb|100 px|Kidney]]
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:<ref name=nih/>
* [[Thyroid]]
* [[Breast]]
* [[Renal]]
==See also==
* [[List of cutaneous conditions]]
* [[List of cutaneous neoplasms associated with systemic syndromes]]
==References==
{{Reflist}}
==Further reading==
* {{Cite book |last=Gilbert-Barness |first=Enid |url=https://books.google.com/books?id=ZwklCwAAQBAJ&q=Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba+syndrome+diagnosis&pg=PT2265 |title=Potter's Pathology of the Fetus and Infant: 2-Volume Set |last2=Kapur |first2=Raj P. |last3=Oligny |first3=Luc Laurier |last4=Siebert |first4=Joseph R. |date=2007 |publisher=Elsevier Health Sciences |isbn=9780323076166 |location=Edinburgh |language=en |access-date=9 December 2016}}
* {{Cite book |last=Ruggieri |first=Martino |url=https://books.google.com/books?id=otBj86IALsYC&q=Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba+syndrome+treatment&pg=PA514 |title=Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes |last2=Pascual Castroviejo |first2=Ignacio |last3=Di Rocco |first3=Concezio |last4=Ruggieri |first4=Martino |date=2008 |publisher=Springer |isbn=978-3-211-69500-5 |edition=revised. |location=Wien New York |language=en |access-date=9 December 2016}}
== External links ==
{{Medical resources
|  DiseasesDB      = 31337
|  ICD10           = Q87.8
|  ICD9            =
|  ICDO            =
|  OMIM            = 153480
|  MedlinePlus     =
|  eMedicineSubj   =
|  eMedicineTopic  =
|  MeshID          = D006223
}}
{{Scholia|topic}}
{{Multiple abnormalities}}
{{Phakomatoses}}
{{Deficiencies of intracellular signaling peptides and proteins}}
{{Authority control}}
{{DEFAULTSORT:Bannayan-Riley-Ruvalcaba Syndrome}}
[[Category:Deficiencies of intracellular signaling peptides and proteins]]
[[Category:Soft tissue disorders]]
[[Category:Melanocytic nevi and neoplasms]]
[[Category:Syndromes with macrocephaly]]
[[Category:Syndromes affecting the nervous system]]
[[Category:Syndromes affecting the gastrointestinal tract]]
[[Category:Syndromes with tumors]]
[[Category:Rare syndromes]]