Bannayan-Riley-Ruvalcaba syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: Ruvalcaba-Myhre syndrome, Ruvalcaba-Myhre-Smith syndrome, Riley-Smith syndrome, Bannayan syndrome, or Bannayan-Zonana syndrome

Overview

Bannayan-Zonana syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

Historical Perspective

  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980.[1]
  • Bannayan-Riley-Ruvalcaba syndrome was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows:
    • Ruvalcaba-Myhre syndrome
    • Riley-Smith syndrome
    • Bannayan-Zonana syndrome
  • The overlap of symptoms between Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome was made in 1996.[2]

Classification

Pathophysiology

Causes

Genetic Cause


Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases

Epidemiology and Demographics

Incidence

Prevalence


Age

Risk Factors

Screening

Natural History, Complications, and Prognosis

Most lesions of BZS are slowly growing and easily resectable. Visceral as well as intracranial involvement may occur in rare cases, and can cause bleeding and symptomatic mechanical compression, especially of the spinal cord or spinal nerve roots. This may require surgical resection.

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Skin

HEENT

Neck

Abdomen

Genitourinary

Neuromuscular

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

  1. Lee SH, Ryoo E, Tchah H (March 2017). "Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report". Pediatr Gastroenterol Hepatol Nutr. 20 (1): 65–70. doi:10.5223/pghn.2017.20.1.65. PMC 5385310. PMID 28401059.
  2. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  3. Bonneau D, Longy M (2000). "Mutations of the human PTEN gene". Hum. Mutat. 16 (2): 109–22. doi:10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0. PMID 10923032.
  4. Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.
  5. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  6. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.
  7. Bhargava, R.; Au Yong, K. J.; Leonard, N. (2013). "Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients". American Journal of Neuroradiology. 35 (2): 402–406. doi:10.3174/ajnr.A3680. ISSN 0195-6108.
  8. Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  9. Blumenthal GM, Dennis PA (November 2008). "PTEN hamartoma tumor syndromes". Eur. J. Hum. Genet. 16 (11): 1289–300. doi:10.1038/ejhg.2008.162. PMID 18781191.
  10. Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ (January 2014). "Bannayan Ruvalcaba Riley Syndrome". ACG Case Rep J. 1 (2): 90–2. doi:10.14309/crj.2014.11. PMID 26157835.
  11. Schreibman IR, Baker M, Amos C, McGarrity TJ (February 2005). "The hamartomatous polyposis syndromes: a clinical and molecular review". Am. J. Gastroenterol. 100 (2): 476–90. doi:10.1111/j.1572-0241.2005.40237.x. PMID 15667510.
  12. Lynch NE, Lynch SA, McMenamin J, Webb D (July 2009). "Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay". Arch. Dis. Child. 94 (7): 553–4. doi:10.1136/adc.2008.155663. PMID 19321504.
  13. Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N (March 2015). "Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome". Eur. J. Paediatr. Neurol. 19 (2): 188–92. doi:10.1016/j.ejpn.2014.11.012. PMID 25549896.
  14. Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.
  15. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  16. Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  17. Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.
  18. Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V (February 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity". Thyroid. 21 (2): 135–44. doi:10.1089/thy.2010.0226. PMID 21190448.
  19. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  20. Merg A, Howe JR (August 2004). "Genetic conditions associated with intestinal juvenile polyps". Am J Med Genet C Semin Med Genet. 129C (1): 44–55. doi:10.1002/ajmg.c.30020. PMID 15264272.
  21. Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.
  22. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (July 1998). "Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome". Cancer Res. 58 (13): 2724–6. PMID 9661881.
  23. Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH (2003). "Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases". Fam. Cancer. 2 (2): 79–85. PMID 14574156.