Basal Cell Carcinomas in Gorlin Syndrome A Review of 202 Patients英文文献资料.docVIP

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Basal Cell Carcinomas in Gorlin Syndrome A Review of 202 Patients英文文献资料.doc

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Basal Cell Carcinomas in Gorlin Syndrome A Review of 202 Patients英文文献资料

HindawiPublishingCorporation JournalofSkinCancer Volume2011,ArticleID217378,6pages doi:10.1155/2011/217378 ClinicalStudy BasalCellCarcinomasinGorlinSyndrome: AReviewof202Patients ElizabethA.Jones, MohammedImranSajid, AndrewShenton, andD.GarethEvans 1 2 1 1 1 GeneticMedicine,ManchesterAcademicHealthScienceCentre,UniversityofManchesterandStMary’sHospital, CentralManchesterUniversityHospitalsNHSFoundationTrust,OxfordRoad,ManchesterM139WL,UK UniversityofManchester,OxfordRoad,ManchesterM139PL,UK 2 CorrespondenceshouldbeaddressedtoElizabethA.Jones,elizabeth.jones@cmft.nhs.uk Received30June2010;Accepted29July2010 AcademicEditor:ArashKimyai-Asadi Copyright?2011ElizabethA.Jonesetal. This is an open access article distributed under the Creative Commons Attribution License,whichpermitsunrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalworkisproperly cited. Gorlinsyndrome(NaevoidBasalCellCarcinomaSyndrome)isarareautosomaldominantsyndromecausedbymutationsin thePTCHgenewithabirthincidenceofapproximately1in19,000.Patientsdevelopmultiplebasalcellcarcinomasoftheskin frequentlyinearlylifeandalsohaveapredispositiontoadditionalmalignanciessuchasmedulloblastoma.GorlinSyndrome patients also have developmental defects such as bi?d ribs and other complications such as jaw keratocysts. We studied the incidenceandfrequencyofbasalcellcarcinomasin202Gorlinsyndromepatientsfrom62familiesandcomparedthistotheir genderandmutationtype.Ourdatasuggeststhattheincidenceofbasalcellcarcinomasisequalbetweenmalesandfemalesand themutationtypecannotbeusedtopredictdiseaseburden. 1.Introduction In1993Evansetal.devisedclinicalcriteriaformakinga diagnosisofGorlinSyndromebasedonthemostfrequent and/or speci?c features of the syndrome [3]. These have since been modi?ed in an attempt to improve diagnostic accuracy[2,4].Table1detailscurrentdiagnosticcriteriaand a diagnosis can be made when 2 major or 1 major and 2 minorcriter