HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as ...HomeMolecularEpidemiologySyndromeArticlePDFAvailableLiteratureReviewHamartomatouspolyposissyndromes:AreviewJuly2014OrphanetJournalofRareDiseases9(1):101DOI:10.1186/1750-1172-9-101SourcePubMedAuthors:AnneMarieJelsigNielsQvistKlausBrusgaardOdenseUniversityHospitalClausBuhlNielsenShowall6authorsHideDownloadfull-textPDFDownloadfull-textPDFDownloadfull-textPDFReadfull-textDownloadfull-textPDFDownloadfull-textPDFDownloadfull-textPDFReadfull-textDownloadcitationCopylinkLinkcopiedReadfull-textDownloadcitationCopylinkLinkcopiedCitations(50)References(62)Figures(5)AbstractandFiguresHamartomatousPolyposisSyndromes(HPS)aregeneticsyndromes,whichincludePeutz-Jegherssyndrome,Juvenilepolyposissyndrome,PTENhamartomatumoursyndrome(CowdenSyndrom,Bannayan-Riley-RuvalcabaandProteusSyndrome)aswellashereditarymixedpolyposissyndrome.OthersyndromessuchasGorlinSyndromeandmultipleendocrineneoplasiasyndrome2BaresometimesreferredtoasHPS.HPSischaracterizedbythedevelopmentofhamartomatouspolypsinthegastrointestinaltractaswellasseveralextra-intestinalfindingssuchasdermatologicalanddysmorphicfeaturesorextra-intestinalcancer.Thesyndromesarerareandinheritedinanautosomaldominantmanner.ThediagnosisofHPShastraditionallybeenbasedonclinicalcriteria,butcansometimesbedifficultastheseverityofsymptomsrangeconsiderablyfromonlyafewsymptomstoveryseverecases-evenwithinthesamefamily.Denovocasesarealsofrequent.However,becauseofthediscoveryofseveralassociatedgermline-mutationsaswellastherapiddevelopmentingeneticsitisnowpossibletousegenetictestingmoreofteninthediagnosticprocess.Managementofthesyndromesisdifferentforeachsyndromeasextra-intestinalsymptomsandtypesofcancersdiffers.ClinicalawarenessandearlydiagnosisofHPSisimportant,asaffectedpatientsandat-riskfamilymembersshouldbeofferedgeneticcounsellingandsurveillance.SurveillanceinchildrenwithHPSmightpreventordetectintesti