Melorheostosis: A Multi-center Case Seriesllrs.org/LLRS 2016 PDFS/Melorheostosis-A Multi-center Case...

Melorheostosis:

AMulti-centerCaseSeries

MarcelWileyMD,DavidA.PodeszwaMD,DmitryPopkovMD,MikhailSamchukovMD,

AlexCherkashinMD,JohnG.BirchMD,

LLRSAnnualMeetingJuly22,2016Charleston,S.C.

Disclosures

Theauthorshavenorelevantdisclosures

Melorheostosis

•  Raremesenchymalbonedysplasia(associatedwithLEMD3genemutations)

•  Typicallypresentsinchildhood

•  Softtissuescarring/contracturestypicalpresentingproblem

•  Radiographs•  Rlowinghyperostosis•  “drippingcandlewax”•  followsasclerotomaldistribution

Melorheostosis

•  Raremesenchymalbonedysplasia(associatedwithLEMD3genemutations)

•  Typicallypresentsinchildhood

•  Softtissuescarring/contracturestypicalpresentingproblem

•  Radiographs•  Rlowinghyperostosis•  “drippingcandlewax”•  followsasclerotomaldistribution

Melorheostosis

•  Onlysinglecasesreportedinlast30years

MarshallandBradishJBJS(Br)1993;Choietal.CORR2003;Gagliardietal.JFootAnkleSurg2010;Aranovichetal.EurOrthopTruamatol2013

•  Purpose:Identifythepresentingcharacteristics,treatmentandcomplicationsofacohortofpatientswithmelorheostosisfromtwoinstitutions

Methods

•  IRBapproved,retrospectivecaseseries(1990–2014)

•  TSRHandIlizarovScientiRicCenter(Kurgan,Russia)

•  AlldiagnosesconRirmedradiographically

•  Data•  Patientdemographics•  Clinicalmanifestations•  Treatments•  RadiographicRindings

Results

•  11pts(6male,5female)

•  Avgageatdiagnosis:8.7y.(2mon–15.8y.)

•  Avgfollow-up:42.2mon.

•  ExtremityInvolvement•  UnilateralUE:n=2•  UnilateralLE:n=9

Results–AssociatedDeformities

•  LowerExtremity•  Ankleequinus(2)•  Calcaneovalgusfoot(2)•  Toedeformities(3)•  Associatedhemiatrophy(2)•  Concomitantgenuvalgum(5)•  ConcomitantLLD(4)

•  UpperExtremity•  Hand–softtissuechangeswithlimitedRingerROM

•  Nointerventionneeded

Results–LowerExtremity

•  ThosewithmultipleboneinvolvementtendedtohavegreaterLEdeformity.

•  SurgicalTreatment(5patients)•  Excisionalbiopsytibia•  OpenTAL(equinuscontracture)•  Anklerelease,multipletendonlengthening(calcaneovalgusfoot)•  TAL,plantarfasciaandposteriorrelease(x3)(recurrentequinocavus)

•  Distalfemorallengthening(4.5cm)withconcomitantgradualcorrectionofkneeRlexioncontractureandequinocavovalgusfoot

Summary

•  Commonpresentation•  Lowerlimbdeformity•  Genuvalgum•  Anklecontractures•  PhalangealRlexioncontractures

•  Mostmanagednon-operatively

•  Skeletalsurveymaybehelpfullyatinitialevaluation

•  Complicationsrelatedtowoundhealing/scarringandrecurrenceofdeformity

CaseExample–

11y.o.male,4.5cmLLD,equinocavovalgusfoot,kneeJlexioncontracture

Conclusions

•  Raredisease–multi-centercollaborationimportantforthesetypesofconditions

•  EarlyidentiRicationmayhelpavoidneedforinterventionlater(i.e.bracingorthotics)

•  Avoidsofttissueprocedureswhenpossibleduetopotentialsofttissuecomplications

•  Lengthening/deformitycorrectionwithexternalRixationmaybeappropriate•  Boneformationdidnotseemtobeeffected•  Averagehealingindex•  Minimizessofttissuemanipulations

ThankYou!

ThankYou!