Otosclerosis

By

Dr. T. Balasubramanian M.S. D.L.O.

Synonyms:Otospongiosis,Ankylosisoffootplateofstapes.

Definition:Otosclerosisisahereditarylocaliseddiseaseofthebonederivedfromtheoticcapsule
characterisedbyalternatingphasesofboneresorptionandnewboneformation.Themature
lamellarboneisremovedbyosteoclasisandreplacedbywovenboneofgreaterthickness,
cellularityandvascularity.

History:In1741AntonioValsalvadescribedankylosisofstapeswhiledoingapostmortemonthe
bodyofadeafpatient.
In1894,AdamPolitzerintroducedtheterm"otosclerosis"anddescribedthehistopathologyof
thediseaseforthefirsttime.
In1912Siebenmannintroducedthetermotospongiosistodenoteactiveotoscleroticfoci.

Pathophysiology:

Theprimarypathologicalchangeoccursinthebonylabyrinthwithsecondaryeffectsupon
middleearandinnerearfunction.Theotoscleroticfocusmaybeasymptomatic,orifpresentin
theareaoffootplateofstapesitmaygiverisetoankylosisoffootplatewithresultantconductive
deafness.Otoscleroticfocimayinvolveotherportionsoflabyrinthcausingsensorineural
hearinglossandvestibularabnormalities.
Acombinationofeffectsarepossibleinotosclerosis.Theyare:
Histologicalotosclerosis:Otoscleroticfocidoesnotcauseanysymptomsandhenceknownas
histologicalotosclerosis.
Stapedialotosclerosis:istheclassicalotosclerosiswithfixationofstapedialfootplatecausing
conductivedeafness.
Cochlearotosclerosis:Thefociinvolvesthecochleacausingsensorineuraldeafness.
Combinedotosclerosis:Hereinadditiontofixationoffootplateofstapesthereisalsoassociated
sensorineuralhearinglossduetoinvolvementofcochlea.

Otospongiosis:Europeanotologistsprefertousethistermtoindicatetheactivephaseof
otosclerosis.

Incidence:Otosclerosisiscommonincaucasianraces.ItisrarelyfoundinMongoloidandNegro
population.

Sexincidence:Inclinicalpracticeotosclerosisisseenmoreofteninwomenthaninmen.The
ratiowasfoundtobe2:1.Nowadaystheauthorsbelievetheapparentfemalepreponderance
maybeduetothefactthatunilateralotoscleroticdeafnessislesscommoninwomenthanin
men.Noticeabledeteriorationinhearingalsooccurduringpregnancyduetohormonalchanges.
Deafnessduetootosclerosismaybeinitiatedormadeworsebypregnancy.Causativefactors/
etiology:Manytheorieshavebeenproposedtoexplaintheetiologicalfactorsofotosclerosis.
Theyare:

1.Metabolic

2.Immunedisorders

3.Vasculardisease

4.Infection(Measles)currentlyaccepted

5.Trauma:Thepetrousbonedoesnothaveregenerativecapacity.Thisisbecauseofthefact
thattheenzymesreleasedduringreparativephaseareverytoxictotheinnerearhaircells.

Pocketsoftissuecapableofregenerationmaybesequesteredinvariousportionsoflabyrinthine
bone.Thesetissuecouldbeactivatedbythepresenceofregenerativeenzymesintheblood
followingbonefractureelsewhereinthebody.

6.Temporalboneabnormalities(congenital)

Geneticfactorspredisposingtootosclerosis:Thetendencyforotosclerosistoruninfamilieshas
beendocumented.Authorshavepostulatedanautosomaldominantmodeofinheritancewith
varyingdegreesofpenetration.
Otosclerosisisassociatedwithosteogenesisimperfectain0.15%ofcases.ThisisknownasVan
derHoevesyndromeorAdairDightonsyndrome.

Sitesaffectedbyotosclerosis:Thecommonestsiteforapperanceofotoscleroticboneisfissula
antefenestrum.Thisfissulaisconstantlyseeninthelabyrinthinecapsulelyinginfrontofthe
ovalwindow.Thisareamaycontainunossifiedcartilagepersistingeveninadults.Thisareawas
referredtoasCozzolino'szonebyPerozziinmemoryofhisteacher.Otosclerosismayoccurin
thisareaduetobonyossificationofthecartilage.
Residualcartilagemaybepresentinthefollowingareasoflabyrinth:
1.Fissulaantefenestram
2.Fissulapostfenestram
3.Intracochlear
4.Roundwindow
5.Semicirularcanals
6.Petrosquamoussuture
7.Baseofstyloidprocess

Innormaldevelopmentthefissulaappearsasfibrousconnectivetissuebundlejoiningthe
vestibulewiththetympaniccavity.Thisfibroustissueisencasedinprimarycartilagewhich
latergetsreplacedbybone.Fromthefissulatheboneacquiresaconnectivetissueliningwhich
laterbecomesconvertedintoperichondrium.Thefissulaisreducedinsizebytheproductionof
newsecondarycartilagefromtheperichondrium.Thesechangesarecompletedbybirth.The
secondarycartilageremainsthroughoutlifeasastable,dormantcartilageandhencemayeven
beconsideredasnormalstructure.Itisonlywhenthissecondarycartilagegetsossified
otosclerosisoccur(Bast&Anson).
Diagramaticrepresentationoffissulaantefenestram

Otoscleroticchangesmayappearasaresultofinteractionbetweenbonegrowthpromoting
substancescirculatinginthebloodstream,andtheunstablecartilagenouselementsinthecapsule
ofthelabyrinth.Otosclerosisisoftenseenattimeswhenthebonegrowthpromotingsubstances
arecirculatinginthebloodasinpregnancyandfollowingfracturesofotherbones.

Histopathologyofotosclerosis:

Thenormalendochondralboneoflabyrinthinecapsuleinwhichotoscleroticfocusbeginsis
compactintype.Ultrastructurally,lamellaecomposedoffinefibrilslyinginagroundsubstance
areconcentricallydisposedaroundhaversiancanalscontainingbloodvesselsandconnective
tissue.Inotosclerosisthereissharplydefinednewboneformationsthatcould
bedifferentiatedfromnormalbonebytheirdeepcarminestainandbymarkedenlargementof
bonespacesandhaversiancanals.Thefollowingarethechangeswhichoccurinaotosclerotic
foci:

1.Focal/diffusereplacementofnormalcompactbonebyirregular,loosecancellousbonewith
moredeeplystaininglamellae.
2.ThereisanassociatedincreaseinsizeofHaversiancanals,cellspacesandmarrowspaceswith
correspondingincreaseinvascularity.Thebloodvesselsarefrequentlysurroundedbyanarrow
marginofbluestainingmaterialthatManasseedescribedfirstasBlueMantlezone.
3.Increaseinosteocytes,andappearanceofosteoblastsandosteoclastcells.

Histologicallyotosclerosismaybeclassifiedinto:

1.Earlyfocalotosclerosis
2.Diffuseactiveotosclerosis
3.Quiescentotosclerosis
4.Cochlearotosclerosis

Earlyfocalotosclerosis:Inthistypetheabnormalitiesarelocalisedtooneortwosmallareasof
anotherwisenormalfootplatesection.Theabnormalareasshowanenlargedmarrowspace
surroundedbyabluestainingareaonH&Estaining.

Diffuseactiveotosclerosis:Inthistypethereisabnormalvascularitywithagreatincreaseinsize
andnumberofmarrowspaces.Mostofthesespacesarelinedbyosteoblasts.Inplacesaround
thecircumferenceofthemarrowspacesthereisascallopedappearancewherebonehasbeen
recentlyabsorbed.Thenumberofosteocytesaregreatlyincreased.

Quiescentotosclerosis:Hereeventhoughtheremaybesomeincreaseinthesizeandnumberof
marrowspacesthereisnoevidenceofboneformationorbonedestruction.Osteoblastsand
osteoclastsareonlyoccasionallyseen.Thiscouldbeconsideredasaburntoutphaseof
thediseasespectrum.

Cochlearotosclerosis:Thisconditioncausespuresensorineuraldeafnesswithoutstapes
fixation.Otoscleroticfocimayoccurintheoticcapsulewithouttheinvolvementofstapedialfoot
plate.Theprocessofboneerosionandnewboneformationwhichoccurinotosclerosisreleases
enzymeslikeamylase,SGOT,SGPTetcwhichcanenterintotheendolymphviatheround
windowmembrane.Theseenzymesaretoxictothesensitivehaircellsofthecochleacausing
sensorineuralhearingloss.

Clinicaltypesofotosclerosis:Classificationofvariousclinicaltypesofotosclerosisisbasedon
microscopicappearancesofthediseasedfootplate.

Rimfixation:Heretheotoscleroticfocistartsfromtheanteriorportionoftheovalwindow
niche.Itgraduallyexpandstoinvolvetheanteriorportionofthefootplatecausingfixationof
theanteriorportionofthefootplateonlyleavingthecentreoftheplatefree.

Diagramaticrepresentationofvariousclinicaltypesofotosclerosis

Biscuitfootplate:Thistypeoccurlessfrequently.Thefocusoriginatesinthefootplateitself
andasitexpandsitgivesrisetothebiscuitorricegrainfootplatewithdelineatedmargins.

Obliterativeotosclerosis:Rarelyalargemassofotoscleroticnewbonefillsuptheovalwindow
nicheobscuringtheentirefootplate.Thisconditionisknownasobliterativeotosclerosis.Itisa
difficultconditiontomanagesurgically.

Clinicalfeatures:

Deafness:Typicallydeafnessinotosclerosisisbilateralandgraduallyincreasinginnature.
Unilateralotosclerosisoccurin15%ofpatients.Frequentlyitoccursbetweenthirdandfifth
decadesoflife.Inmajorityofcasesthedeafnessisconductiveinnature.Thedeafnesswillnot
benoticedbythepatienttillthelossreaches30dBlevel.Thisisthedeafnesslevelinwhich
understandingspeechbecomesdifficult.Thesepatientsmayhearbetterinnoisyenvironment
becausethespeakerhasatendencytoraisehisvoicebecauseofexcessiveambientnoise.This
phenomenonafeatureofotosclerosisisknownasParacusisWillisii.
Incochlearotosclerosisthedeafnessispurelysensorineuralinnature.Somepatientsmay
havebothconductiveandsensorineuralhearingloss(mixeddeafness)becauseofthetendencyof
bonereparativeenzymestodamagetheinnerhaircells.

Patientswithotosclerosishavecharacteristicallyquietvoicewithgoodtoneandthechangein
speechpatternmaybedetectedonlybycloserelatives.

Tinnitus:isacommonsymptomandoccasionallycouldbetheonlypresentingfeature.The
presenceoftinnitusshouldalertthephysicianaboutthepresenceofcochlearotosclerosis.It
couldalsobeseeninsomepatientswithoutcochleardegenerationduetoabnormallyincreased
vascularityoftheotoscleroticbone.Mostlytinnitusindicatessensorineuraldegeneration.
Tinnitusmaybeunilateralorbilateral.Itisusuallyroaringinnature.

Vertigo:Transientattacksofvertigoisnotuncommoninpatientswithotoslerosis.Thiscouldbe
duetotheactionoftoxicenzymesreleasedbythelesionintothevestibularlabyrinth.These
patientsmayevenhavecoexistingMeniere'sdisease.

Clinicalexamination:Theeardruminthesepatientsisnormal(mintcondition).Rarelyduring
activephaseofthediseasetheincreasedvascularityofthepromontorymaybeseenthroughthe
eardrum.ThissignisknownasFlemingo'sflushsignorSchwartz'ssign.Thisindicates
otospongiosis(activeotosclerosis).

Hearingassessmentcanbedoneusingtuningforks.Fordetaileddescriptionoftuningforktests
readthechaptertitledclinicalexaminationoftheear.

Puretoneauditometrywillshowpreciselytheamountandtypeofhearingloss.Thepresenceof
Carhart'snotchisaclassicaudiometricfeatureinthesepatients.ThisCarhart'snotchispresent
inbonecondution.Thereisadipcenteredaround2000Hz.Thisisactuallyanartifact.In
cochlearotosclerosisaudiometryrevealssensorineuralhearingloss.
Stapesfixationcausesanelevationintheboneconductionthresholdsof5dBat500Hz,10dBat
1000Hz,15dBat2000Hz,and5dBat4000Hz.Intheaudiogramthiscreatesapeculiar
patternknownasCookiebiteaudiogram.Theboneconductionaudiogramappearslikeacookie
havingbeenbitten.

Figshowingacookiebiteaudiogram

Figshowingaudiogramwithcarhart'snotch

Impedenceaudiometryisanusefulinvestigationtodiagnoseotosclerosis.Middleearcompliance
isoftenreduced.Whenstapesisfixedstapedialreflexisabsent.Thetypicalimpedencecurveis
Ascurve.

Allthesepatientswithpureconductivedeafnesshaveexcellentspeechdiscrimination
thresholds.
Management:

Medical:Theaimofmedicalmanagementistoconvertanactiveotoscleroticfociintoaninactive
orquiscentfoci.Flurideisthedrugofchoice.

Indicationsoffluridetherapy:

1.Patientswithsurgicallyconfirmedotosclerosiswhoshowprogressivesensorineuraldeafness
disproportionatetoage.

2.Patientswithpuresensorineurallosswithfamilyhistory,ageofonset,audiometricpatternand
goodauditorydiscriminationindicatethepossibilityofcochlearotosclerosis.

3.PatientswithradiologicaldemonstrationbyCTscanofspongioticchangesinthecochlear
capsule

4.PatientswithpositiveSchwartzsign.

5.Postoptreatment:Ifpatientsarefoundtohaveanactivefocusduringsurgery,fluridetherapy
isprescribedfor2years.

Contraindicationsoffluridetherapy:

1.Patientswithchronicnephritisandnitrogenretention

2.Patientswithchronicrheumatoidarthritis

3.Patientwhoarepregnant/lactating

4.Inchildrenbeforeskeletalgrowthhasbeencompleted

5.Patientswhoshowallergyforthedrug

6.Patientswithskeletalflurosis

Fluridesactonotoscleroticfocibyreducingosteoclasticboneresorptionwithacorresponding
increaseinosteoblasticboneformation.Fluridealsohasantienzymaticactiontherebyitcan
neutralisethetoxicenzymesreleasedfromtheotospongioticfoci.

Dose:Adailydoseof50mgofsodiumflurideisgivenforaperiodof2years.Inpatientswith
positiveSchwartz'ssignthedosecanbeincreasedupto75mgperday.

Adverseeffectsofsodiumfluridetherapy:

1.Gastricdisturbance

2.Arthritis

3.Skeletalflurosis
Surgicaltreatment:Stapedectomy

Hearingaids:Thesepatientswillbenefitfromtheuseofhearingaidsifsurgeryisnotacceptable
tothepatientorifitisrisky.Thereisalwaysa1%riskofproducingadeadearduringsurgery
eveninthebestofhands.