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Bannayan–Riley–Ruvalcaba syndrome

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Title: Bannayan–Riley–Ruvalcaba syndrome  
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Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome
Classification and external resources
OMIM 153480
DiseasesDB 31337
MeSH D006223

Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.[1][2] 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. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome. Collectively, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes (PHTS).

Contents

  • Presentation 1
  • Etymology 2
  • See also 3
  • References 4
  • External links 5

Presentation

Bannayan-Riley-Ruvalcaba syndrome is characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.

The macroencephaly is symmetrical, and does not cause widening of the ventricles or raised ICP (intracerebral pressure).

These patients have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN).

Up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto's thyroiditis. Most lesions 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.

Etymology

The syndrome combines Bannayan–Zonana syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–Smith syndrome.[3] Bannayan–Zonana syndrome is named for Jonathan Zonana.[4][5][6] Riley–Smith syndrome was named for Harris D. Riley, Jr. and William R. Smith.[7] Ruvalcaba–Myhre–Smith syndrome is named for S. Myhre, Rogelio H. A. Ruvalcaba and David Weyhe Smith.[8]

See also

References

  1. ^ Buisson P, Leclair MD, Jacquemont S, et al. (September 2006). "Cutaneous lipoma in children: 5 cases with Bannayan–Riley–Ruvalcaba syndrome". J. Pediatr. Surg. 41 (9): 1601–3.  
  2. ^ Gujrati M, Thomas C, Zelby A, Jensen E, Lee JM (August 1998). "Bannayan–Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature". Surg Neurol 50 (2): 164–8.  
  3. ^ Hannigan, Steve; National Information Centre for Metabolic Diseases (2007). Inherited Metabolic Diseases: A Guide to 100 Conditions. Radcliffe Publishing. p. 101.  
  4. ^ synd/1276 at Who Named It?
  5. ^ Bannayan GA (July 1971). "Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome". Arch Pathol 92 (1): 1–5.  
  6. ^ Zonana J, Rimoin DL, Davis DC (October 1976). "Macrocephaly with multiple lipomas and hemangiomas". J. Pediatr. 89 (4): 600–3.  
  7. ^ synd/1731 at Who Named It?
  8. ^ synd/1275 at Who Named It?

External links

  • GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS)
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