Bannayan–Riley–Ruvalcaba syndrome

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Bannayan–Riley–Ruvalcaba syndrome
Other namesBRRS
Autosomal dominant is the manner in which this condition is inherited
SpecialtyOncology, medical genetics Edit this on Wikidata
SymptomsEnlarged head[1]
CausesMutations in the PTEN gene [2]
Diagnostic methodBased on signs and symptoms[3]
TreatmentBased on symptoms[3]

Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare

autosomal dominant manner.[4]
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes
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.[5]

Signs and symptoms

Bannayan–Riley–Ruvalcaba syndrome is associated with

Dysmorphy as well as delayed neuropsychomotor development can also be present.[1][5]

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[6][7]

Genetics

PTEN

The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the

molecular location is 87,863,438 to 87,971,930 [2][7]

There are many syndromes that are linked to PTEN aside from Bannayan–Riley–Ruvalcaba Syndrome.[8]

The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.[9]

Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana[10]

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.

cytogenetic test) to determine Bannayan–Riley–Ruvalcaba syndrome.[11]

Differential diagnosis

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

Treatment

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:[3]

See also

References

  1. ^
    ISBN 9780781730631. Archived
    from the original on 12 January 2023. Retrieved 9 December 2016.
  2. ^ a b "PTEN gene". Genetics Home Reference. Archived from the original on 20 December 2016. Retrieved 9 December 2016.
  3. ^ a b c d "Bannayan-Riley-Ruvalcaba syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 9 December 2020. Retrieved 9 December 2016.
  4. ^ "Bannayan-Riley-Ruvalcaba syndrome". Genetics Home Reference. Archived from the original on 20 December 2016. Retrieved 9 December 2016.
  5. ^
    PMID 20301661. Archived
    from the original on 19 December 2020. Retrieved 9 December 2016.update 2016
  6. PMID 19668082
    .
  7. ^ a b "OMIM Entry - # 153480 - BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS". www.omim.org. Archived from the original on 10 March 2017. Retrieved 9 December 2016.
  8. PMID 27617124
    .
  9. ISBN 978-1-84619-099-5. Archived
    from the original on 2023-01-12. Retrieved 2020-11-05.
  10. PMID 5091590
    .
  11. ^ "Bannayan-Riley-Ruvalcaba syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 9 December 2020. Retrieved 9 December 2016.
  12. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Bannayan Riley Ruvalcaba syndrome". www.orpha.net. Archived from the original on 20 December 2016. Retrieved 9 December 2016.{{cite web}}: CS1 maint: numeric names: authors list (link)

Further reading

External links

Scholia has a topic profile for Bannayan–Riley–Ruvalcaba syndrome.
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