Bannayan-Zonana syndrome, Ruvalcaba-Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome
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Epidemiology
rare
Pathology
- hamartomatous disorder
Genetics
- associated with defects in PTEN
Clinical manifestations
- partial clinical overlap with Cowden's disease
- classic triad of
- macrocephaly
- lipomatosis
- pigmented macules of the penis
- hemangiomas
Laboratory
Complications
- seems not to be an increased risk of malignancy
More general terms
Additional terms
References
- ↑ Marsh DJ et al, Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet. 1997 Aug;16(4):333-4. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9241266
- ↑ Wikipedia: Bannayan-Riley-Ruvalcaba syndrome http://en.wikipedia.org/wiki/Bannayan-Riley-Ruvalcaba_syndrome
- ↑ Gretzula JC, Hevia O, Schachner LS et al Ruvalcaba-Myhre-Smith syndrome Pediatr Dermatol. 1988 Feb;5(1):28-32. PMID: https://www.ncbi.nlm.nih.gov/pubmed/3380760
- ↑ Genetics Home Reference: Bannayan-Riley-Ruvalcaba syndrome http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
- ↑ Bannayan-Riley-Ruvalcaba syndrome Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome
Patient information
Bannayan Zonana syndrome patient information