Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome
Other names: BRRS
Autosomal dominant is the manner in which this condition is inherited
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 overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner.[4] 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.[5]

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.[1][5] 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.

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 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 [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

a) Photomicrograph ganglioneuroma. b) Immunohistochemical stain -Schwann cells

In terms of diagnosing Bannayan–Riley–Ruvalcaba syndrome there is no current method outside the physical characteristics that may be present as signs/symptoms.[3] 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

Kidney

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:[3]

See also

References

  1. 1 2 Disorders, ed. by the National Organization for Rare (2003). NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins. p. 240. ISBN 9780781730631. Archived from the original on 22 October 2021. Retrieved 9 December 2016.
  2. 1 2 Reference, Genetics Home. "PTEN gene". Genetics Home Reference. Archived from the original on 20 December 2016. Retrieved 9 December 2016.
  3. 1 2 3 4 "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. ↑ Reference, Genetics Home. "Bannayan-Riley-Ruvalcaba syndrome". Genetics Home Reference. Archived from the original on 20 December 2016. Retrieved 9 December 2016.
  5. 1 2 Eng, Charis (1 January 1993). "PTEN Hamartoma Tumor Syndrome". GeneReviews. PMID 20301661. Archived from the original on 19 December 2020. Retrieved 9 December 2016.update 2016
  6. ↑ 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.
  7. 1 2 "OMIM Entry - # 153480 - BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS". www.omim.org. Archived from the original on 10 March 2017. Retrieved 9 December 2016.
  8. ↑ 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 4918719. PMID 27617124.
  9. ↑ Hannigan, Steve, ed. (2007). Inherited Metabolic Diseases: A Guide to 100 Conditions. Radcliffe Publishing. p. 101. ISBN 978-1-84619-099-5. Archived from the original on 2020-12-09. Retrieved 2021-08-12.
  10. ↑ 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.
  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.

Further reading

Classification
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