title: Clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family.
abstract: BACKGROUND
  Hereditary mixed polyposis syndrome is characterised by multiple large-bowel polyps of differing histological types including a mixture of atypical juvenile polyps, hyperplastic polyps and adenomas. Affected individuals are thought to have an increased risk of malignancy, possibly via the juvenile polyposis pathway.
  
  
  METHODS
  A 51-year-old woman (with a history of a colectomy for polyps during childhood) presented with rectal bleeding. Endoscopy demonstrated small rectal polyps which were hyperplastic on histology. A family tree was drawn up and the three children of the proband underwent flexible sigmoidoscopy.
  
  
  RESULTS
  Endoscopic surveillance of the three children revealed one who had a similar phenotype to the mother. This child underwent colectomy and ileorectal anastomosis. The pathological specimen revealed more than 70 polyps, with a combination of juvenile retention, hyperplastic, adenomatous and inflammatory polyps. A second child had multiple small hyperplastic polyps, and the third had a normal colon. Although the gene locus for the disorder has been mapped, neither the gene nor the disease-causing mutation has been defined.
  
  
  CONCLUSIONS
  A rare inherited polyposis syndrome has been identified in a South African family. Where clinical suspicion of a possible inherited condition exists, investigating at-risk first-degree relatives confirms the inherited nature of the disease. It is possible to use genetic haplotyping (i.e. with a range of markers in the area of the gene) to provide statistical risk to immediate relatives and therefore those at highest risk.
authors.affiliation: Colorectal Unit, Department of Surgery, Groote Schuur Hospital and University of Cape Town.
authors.forename: S B
authors.initials: SB
authors.lastname: Ibirogba
authors.forename: U
authors.initials: U
authors.lastname: Algar
authors.forename: P A
authors.initials: PA
authors.lastname: Goldberg
authors.forename: M
authors.initials: M
authors.lastname: Duffield
authors.forename: A
authors.initials: A
authors.lastname: Vorster
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D000328:Adult; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003082:Colectomy; D003106:Colon / Q000473:pathology*; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D012306:Risk; D013019:South Africa
chemical_list: D005819:Genetic Markers