Bannayan-Riley-Ruvalcaba syndrome: Difference between revisions
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* [[Amblyopia]] | * [[Amblyopia]] | ||
* [[Penis|Penile]] [[Lentiginosis|lentigines]] | * [[Penis|Penile]] [[Lentiginosis|lentigines]] | ||
'''Neck''' | |||
* [[Thyromegaly]]-Hashimoto thyroiditis | |||
'''Abdomen''' | |||
* Hamartomatous polyps in gastrointestinal tract | |||
The [[macroencephaly]] of BZS is symmetrical, and does not cause widening of the ventricles or raised [[ICP]] ([[intracerebral pressure]]). | The [[macroencephaly]] of BZS is symmetrical, and does not cause widening of the ventricles or raised [[ICP]] ([[intracerebral pressure]]). | ||
Revision as of 23:42, 29 January 2019
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
Classification
Pathophysiology
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in autosomal dominant pattern, but sporadic cases have been reported.
- The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz-Jeghers syndrome, juvenile polyposis and Cowden syndrome.
- It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by the following gene mutations:[1][2][3]
- Germline phosphatase and
- Tensin homolog (PTEN) mutations.
- Patients who have Bannayan-Riley-Ruvalcaba syndrome (BRRS), have a positive association with PTEN mutations in 55 to 60 % of cases.[4]
- PTEN track backs to 10q23 and encodes and plays a significant role in the following:[5]
- Phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
Causes
Differentiating Bannayan-Riley-Ruvalcaba syndrome from Other Diseases
Epidemiology and Demographics
Incidence
- The incidence of Bannayan-Riley-Ruvalcaba syndrome is approximately 1 per 200,000 individuals worldwide.[6][7]
Age
- Bannayan-Riley-Ruvalcaba syndrome commonly affects individuals of younger age.[8][9]
- The median age for Bannayan-Riley-Ruvalcaba syndrome diagnosis is as young as five years.
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
HEENT
- Macrocephaly
- Downslanting palpebral fissures of the eyes
- Strabismus
- Amblyopia
- Penile lentigines
Neck
- Thyromegaly-Hashimoto thyroiditis
Abdomen
- Hamartomatous polyps in gastrointestinal tract
The macroencephaly of BZS is symmetrical, and does not cause widening of the ventricles or raised ICP (intracerebral pressure).
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.