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Bannayan-Zonana syndrome, Ruvalcaba-Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome

Epidemiology: rare Pathology: - hamartomatous disorder Genetics: - associated with defects in PTEN Clinical manifestations: - partial clinical overlap with Cowden's disease - classic triad of a) macrocephaly b) lipomatosis c) pigmented macules of the penis - hemangiomas Laboratory: - PTEN gene mutation Complications: - seems not to be an increased risk of malignancy

Related

chromosome 10q23 deletion syndrome mutated in multiple advanced cancers 1; protein tyrosine phosphatase PTEN; phosphatase & tensin homolog deleted on chromosome ten; phosphatase & tensin homolog; phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase & dual-specificity protein phosphatase PTEN (PTEN, MMAC1, TEP1)

General

hereditary neoplastic syndrome; cancer susceptibility syndrome

Properties

ASSOCIATED-NEOPLASM[S]: polyp :SITE intestine lipoma hemangioma

Database Correlations

OMIM 153480

References

  1. Marsh DJ et al, Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet. 1997 Aug;16(4):333-4. PMID: 9241266
  2. Wikipedia: Bannayan-Riley-Ruvalcaba syndrome http://en.wikipedia.org/wiki/Bannayan-Riley-Ruvalcaba_syndrome
  3. Gretzula JC, Hevia O, Schachner LS et al Ruvalcaba-Myhre-Smith syndrome Pediatr Dermatol. 1988 Feb;5(1):28-32. PMID: 3380760
  4. Genetics Home Reference: Bannayan-Riley-Ruvalcaba syndrome http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
  5. Bannayan-Riley-Ruvalcaba syndrome Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome