Fibrodysplasia Ossificans Progressiva Report of a case

Abstract: Fibrodysplasiaossificansprogressiva(FOP)isa rare,dominantlyinheritedconnective tissuedisorder,characterizedbycongenitalmalformationsofthegreattoesandthumbs andprogressiveheterotopicossificationofsofttissuesofthetrunkandextremities. The ossifications typically appearwithin the first decade of life and result in progressive ankylosisofthejointsandseveredisability.Sofar,morethan600caseshavebeenreported worldwide and presently there is no effective treatment or prevention. During the early phase,particularlypriortothedevelopmentofcalcifications, it isoftenmis-diagnosedas softtissuesarcomasorfibromatoses,whichconsiderablydelaysthediagnosis,andtherefore leadstounnecessaryandperhapslifethreateningtreatments. Herein,wepresenta caseof a 21-year-oldmalewithFOPdiagnosedlateinthecourseofhisdisease.