Bannayan-Zonana syndrome: Difference between revisions

Jump to navigation Jump to search
Line 16: Line 16:
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes [[Peutz-Jeghers syndrome]], [[juvenile polyposis]] and [[Cowden syndrome]].
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes [[Peutz-Jeghers syndrome]], [[juvenile polyposis]] and [[Cowden syndrome]].
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern.
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern.
* It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by  the following gene mutations:
* It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by  the following gene mutations:<ref name="pmid9467011">{{cite journal |vauthors=Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C |title=Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation |journal=Hum. Mol. Genet. |volume=7 |issue=3 |pages=507–15 |date=March 1998 |pmid=9467011 |doi= |url=}}</ref>
** Germline phosphatase and tensin homolog (''PTEN'') mutations.
** Germline phosphatase and  
** Tensin homolog (''[[PTEN (gene)|PTEN]]'') mutations.
**
**



Revision as of 03:31, 28 January 2019

WikiDoc Resources for Bannayan-Zonana syndrome

Articles

Most recent articles on Bannayan-Zonana syndrome

Most cited articles on Bannayan-Zonana syndrome

Review articles on Bannayan-Zonana syndrome

Articles on Bannayan-Zonana syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Bannayan-Zonana syndrome

Images of Bannayan-Zonana syndrome

Photos of Bannayan-Zonana syndrome

Podcasts & MP3s on Bannayan-Zonana syndrome

Videos on Bannayan-Zonana syndrome

Evidence Based Medicine

Cochrane Collaboration on Bannayan-Zonana syndrome

Bandolier on Bannayan-Zonana syndrome

TRIP on Bannayan-Zonana syndrome

Clinical Trials

Ongoing Trials on Bannayan-Zonana syndrome at Clinical Trials.gov

Trial results on Bannayan-Zonana syndrome

Clinical Trials on Bannayan-Zonana syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Bannayan-Zonana syndrome

NICE Guidance on Bannayan-Zonana syndrome

NHS PRODIGY Guidance

FDA on Bannayan-Zonana syndrome

CDC on Bannayan-Zonana syndrome

Books

Books on Bannayan-Zonana syndrome

News

Bannayan-Zonana syndrome in the news

Be alerted to news on Bannayan-Zonana syndrome

News trends on Bannayan-Zonana syndrome

Commentary

Blogs on Bannayan-Zonana syndrome

Definitions

Definitions of Bannayan-Zonana syndrome

Patient Resources / Community

Patient resources on Bannayan-Zonana syndrome

Discussion groups on Bannayan-Zonana syndrome

Patient Handouts on Bannayan-Zonana syndrome

Directions to Hospitals Treating Bannayan-Zonana syndrome

Risk calculators and risk factors for Bannayan-Zonana syndrome

Healthcare Provider Resources

Symptoms of Bannayan-Zonana syndrome

Causes & Risk Factors for Bannayan-Zonana syndrome

Diagnostic studies for Bannayan-Zonana syndrome

Treatment of Bannayan-Zonana syndrome

Continuing Medical Education (CME)

CME Programs on Bannayan-Zonana syndrome

International

Bannayan-Zonana syndrome en Espanol

Bannayan-Zonana syndrome en Francais

Business

Bannayan-Zonana syndrome in the Marketplace

Patents on Bannayan-Zonana syndrome

Experimental / Informatics

List of terms related to Bannayan-Zonana syndrome

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

The disease is inherited in an autosomal dominant form, 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.

  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in autosomal dominant pattern.
  • It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by the following gene mutations:[1]
    • Germline phosphatase and
    • Tensin homolog (PTEN) mutations.

Causes

Differentiating Bannayan-Zonana syndrome from Other Diseases

Epidemiology and Demographics

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

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

Template:WS Template:WH

  1. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C (March 1998). "Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation". Hum. Mol. Genet. 7 (3): 507–15. PMID 9467011.