Capillary Malformation–Arteriovenous Malformation Syndrome Christopher D. Sibley.pdf

该【Capillary Malformation–Arteriovenous Malformation Syndrome Christopher D. Sibley 】是由【探春文档】上传分享，文档一共【1】页，该文档可以免费在线阅读，需要了解更多关于【Capillary Malformation–Arteriovenous Malformation Syndrome Christopher D. Sibley 】的内容，可以使用淘豆网的站内搜索功能，选择自己适合的文档，以下文字是截取该文章内的部分文字，如需要获得完整电子版，请下载此文档到您的设备，方便您编辑和打印。ClinicalReview&EducationImagesinDermatologyCapillaryMalformation–,MD,PhD;,MDCMA6-year-oldboypresentedwithmultipleerythematousgeo-About30%ofpatientshaveadenovomutation,1andithasbeengraphicpatches(largest,4×2cm),manywithasurroundinghalosuggestedthattheobservedphenotypicvariabilityisduetoaso-ofpallor,onhisextremities,scalp,andtorso(Figure).urdur-werepresentatbirth,buthisparentsclearlydescribedanincreas--Importantly,inalmostone-thirdofpatients,CM-AVMsyn-tionofhisbrainandspinalcord,andultrasoundofthelargerle-dromecanbeassociatedwithfastflowvascularanomalies(eg,ar-[AVMs]andarteriovenousfistulasictestingrevealedamutationintheRASA1gene(anegative[AVFs])intheskin,muscle,bone,brain,andspine,whichcancauseregulatoroftheRASsignalingpathway),andthediagnosisofcap-life-plicationssuchasbleeding,congestiveheartfail-illarymalformation–arteriovenousmalformation(CM-AVM)syn-ure,-,bone,-Webersyndrome,whichischar-hasabroadclinicalspectrum1andislikelyunderrecognizedbe-acterizedbycutaneousCMsassociatedwithunderlyingsofttissueapillaryandbonyhypertrophyowingtomicro-,themalformations(CMs),-BrownPatchandMaculeAnincreasingnumberofatypicalCMsontheskinmaybetheWithHaloofBlanchingonlysignofCM-AVMsyndromeandshouldalertthecliniciantofur--isticblanchedhalosuggestsanassociatedstealphenomenon,andincreasedbloodflowcanbeseenonlesionalDopplerultrasound3;however,theCMsofCM--(eg,severeheadaches,seizures,hydrocepha-lus,neurologicdeficits,cardiacfailure).1Consultationwithradiol-,nopatientswithnormalscreeningimagingresultshavebeenreportedtodevelopfast--AVMsyn-dromewithoutassociatedextracutaneousfast-flowmalforma-Multipleerythematousgeographicpatches,thelargestofwhichwas4×2cm,-up,andnotreat-wereseenonthepatient’sextremities,scalp,::DivisionofDermatology,AdditionalContributions:Wethankthepatient’smalformation/arteriovenousmalformationDepartmentofMedicine,TheOttawaHospital,rantingpermissiontopublishthis(CM/AVM);170UniversityofOttawa,Ottawa,Ontario,Canadainformation.(6):1450-1454.(Sibley,Ramien);munityPediatrics,,BoonLM,MendolaA,,AlbertaChildren’sREFERENCESmutationsandassociatedphenotypesin68Hospital,Calgary,Alberta,Canada(Ramien).-ToydemirP,-Relatedfamilieswithcapillarymalformation–arteriovenousCorrespondingAuthor:,MDCM,:AdamMP,ArdingerHH,PagonRA,;34(12):1632-,Departmentofetal,?.Seattle,WA:,LaurenCT,BehrGG,,AlbertaChildren’sHospital,28OkiDrWashington;://.gov/spectrumofcapillarymalformation–arteriovenousNW,Calgary,AlbertaT2N1Z2,Canada(/.AccessedMarch15,2019.******@).,Wooderchak-DonahueW,;32(1):PublishedOnline:April24,-ToydemirP,-:.0319(Reprinted)JAMADermatologyPublishedonlineApril24,2019E1?:https:///byaIdahoStateUniversityUseron04/24/2019