DDSMSC Oral and maxillofacial pathology Bone Pathology Chapter 14 Osteogenesis Imperfecta Osteopetrosis Cleidocranial Dysplasia Focal Osteoporotic Marrow Defect Idiopathic Osteosclerosis ID: 1010612
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1. IN THE NAME OF GODDr.kheirandish DDS,MSCOral and maxillofacial pathology
2. Bone PathologyChapter 14
3. Osteogenesis ImperfectaOsteopetrosisCleidocranial DysplasiaFocal Osteoporotic Marrow DefectIdiopathic OsteosclerosisMassive OsteolysisPaget's Disease of Bone
4. OSTEOGENESIS IMPERFECTA
5. Most common type of inherited bone diseaseCollagen maturationType I collagenCOL1A1 gene on chromosome 17COL1A2 gene on chromosome 7Collagen forms :Major portion of boneDentinScleraeLigamentsSkinAutosomal dominant Autosomal recessive Sporadic
6. Bone Thin cortexFine trabeculationDiffuse osteoporosisFractureLong bone and spine deformitiesBlue scleraAltered teethHypoacusis (hearing loss)Joint hyperextensibility
7. Radiographic hallmarks OsteopeniaBowingAngulationDeformity of the long bonesMultiple fracturesWormian bones in the skull (not specific)Wormian bones10 or more sutural bones that are 6 x 4 mm in diameter or larger and arranged in a mosaic pattern.
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9. Oral cavityBoth dentitions Blue to brown translucenceReveal premature pulpal obliterationDentinogenesis imperfectaClass III malocclusion (maxillary hypoplasia)
10. TYPE I OSTEOGENESIS IMPERFECTAMost common and mildest formMild to moderately severe bone fragilityHearing loss commonly develops before age 30Hypermobile joints and easy bruisingOpalescent dentinBlue sclerae Autosomal dominantTYPE II OSTEOGENESIS IMPERFECTAMost severe formExtreme bone fragilityMany patients are stillborn, and 90% die before 4 weeks of age Blue scleraeOpalescent teethBoth autosomal recessive and dominant
11. TYPE III OSTEOGENESIS IMPERFECTAMost severe form noted in individuals beyond the perinatal period Severe bone fragilitySclerae (fades as the child grows older)Hearing loss Die during childhood(cardiopulmonary complications caused by kyphoscoliosis)Opalescent dentin/normal teeth Both autosomal dominant and recessive TYPE IV OSTEOGENESIS IMPERFECTAMild to moderate bone fragility (decreases after puberty)Sclerae (blue color fades later in life)Opalescent dentin/normal teeth.Autosomal dominant
12. Osteoblasts are presentBone matrixFailure of woven bone to become transformed to lamellar bone
13. No cure Symptomatic improvement Intravenous (IV) or oral bisphosphonates : decreased pain, reduced risk of fractureOpalescent dentin : severe attrition of their teeth, leading to tooth loss
14. OSTEOPETROSIS
15. MARBLE BONE DISEASEIncrease in bone densityFailure of normal osteoclast function (Number of osteoclasts … Bone is not resorbed)Key elements necessary for osteoclast function :Proton pumpChloride channelCarbonic anhydrase IITwo major clinical patterns:Infantile osteopetrosisadult osteopetrosis
16. INFANTILE OSTEOPETROSISMalignant osteopetrosisAutosomal recessiveMarrow failureFrequent fracturesCranial nerve compression Initial signs Normocytic anemiaHepatosplenomegaly(resulting from compensatory extramedullary hematopoiesis)Granulocytopenia : Increased susceptibility to infection
17. Facial deformity Broad faceHypertelorismSnub noseFrontal bossingTooth eruption : delayedNarrowing skull foraminaPress on the cranial nerves Optic nerve atrophy and blindnessDeafnessFacial paralysisPathologic fractures : common Osteomyelitis : common complication of tooth extractionIncrease in skeletal density (distinction between cortical and cancellous bone is lost)
18. Intermediate osteopetrosisLess severe variants Asymptomatic at birth Marrow failureHepatosplenomegaly Transient osteopetrosisRadiographic evidence of diffuse sclerosis Marrow failure BUTResolve without specific therapyReturn to normalcy
19. ADULT OSTEOPETROSISBenign osteopetrosisDiscovered later in lifeAutosomal dominant Long bonesAsymptomaticMarrow failure Two major variants Cranial nerve compression … common / Fractures rareFrequent fractures / Nerve compression … uncommonMandible is involved, fracture and osteomyelitis after tooth extraction
20. Abnormal endosteal bone formationNumerous osteoclasts Adult osteopetrosis : long-term survivalInfantile osteopetrosis : bone marrow transplantation Interferon gamma-1b + calcitriol :Reduce bone mass Decrease infectionsLower nerve compressionCorticosteroids Limiting calcium intakeAntibiotics
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22. CLEIDOCRANIAL DYSPLASIA
23. Dental and clavicular abnormalitiesCBFA1 gene (RUNX2) OdontogenesisOdontoblast differentiationEnamel organ formation Dental lamina proliferation
24. Clavicles Absent(unilaterally or bilaterally)…10%Hypoplasia Muscles : underdeveloped
25. Neck : longShoulders : narrow / unusual mobility Short statureLarge heads with pronounced frontal and parietal bossingHypertelorismBroad base nose Depressed nasal bridge Wormian bones
26. Dental and jaw manifestationsSmall or absent maxillary sinusesMandibular prognathismNarrow, high-arched palateCleft palateProlonged retention of deciduous teethDelay or complete failure of eruption of permanent teeth Numerous unerupted permanent and supernumerary teeth (more than 60)
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28. Unerupted permanent teeth Lack secondary cementum Insufficient alveolar bone resorption is the reason for impaired tooth eruption
29. FOCAL OSTEOPOROTIC MARROW DEFECT
30. Area of hematopoietic marrow that is sufficient in size May be confused with an intraosseous neoplasmAberrant bone regeneration after tooth extractionPersistence of fetal marrowMarrow hyperplasia in response to increased demand for erythrocytes
31. Asymptomatic Radiographic examinationRadiolucent lesionVarying in size More than 75% : adult women70% : posterior mandible (edentulous areas)No expansion
32. Hematopoietic and/or fatty marrowIncisional biopsyTreatment : no
33. IDIOPATHIC OSTEOSCLEROSISDense bone island Bone scar Enostosis Focal periapical osteopetrosis
34. Focal area of increased radiodensity Unknown cause Other bonesNonvital teeth or significantly inflamed pulps :Condensing osteitis or focal chronic sclerosing osteomyelitis
35. Blacks and asiansLate first or early second decadeSlow increase in sizeAsymptomaticCortical expansion : noRoutine radiographic examinationMandible : 90% (first molar / second premolar / second molar )
36. Well-definedRoundedRadiodense mass (uniformly radiopaque OR nonhomogeneous)Radiolucent rim : noAssociated with a root apex
37. MASSIVE OSTEOLYSISGORHAM DISEASEVANISHING BONE DISEASEPHANTOM BONE DISEASE
38. Rare diseaseSpontaneous and usually progressive destruction of one or more bonesReplaced by a vascular proliferation…dense fibrous tissueCause … unknownProliferation of blood or lymphatic vessels that is occasionally multicentric
39. Children and young adults (50% report of trauma) Maxillofacial : 30% Mandible Mobile teethPainMalocclusionDeviation of the mandibleDeformityObstructive sleep apnea syndrome
40. Radiolucent foci of varying size with indistinct margins…become larger Loss of the lamina dura Thinning of the cortical plates Mimc periodontitis or periapical inflammatory disease
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42. Early stages : Nonspecific vascular proliferation intermixed with fibrous connective and a chronic inflammatory infiltrate Later stages : More collagenizedRepair by new bone formation is not seen
43. Spontaneous arrest Mortality : UncommonBone grafRadiation therapy is the most successful Postirradiation sarcoma
44. PAGET'S DISEASE OF BONE
45. Abnormal resorption and deposition of boneDistortion and weakening of the affected bonesCause … unknownInflammatoryGeneticEndocrine factors Mutations sqstml (p62) / VCP geneVirus infection
46. CommonGeographic varianceBritainMen : whites Older than 45 y/oAsymptomatic disease : Radiography Elevation in serum alkaline phosphataseMost cases : polyostotic Bone pain : common complaintMost commonly affected bones : lumbar vertebrae, pelvis, skull, and femur Simian (monkeylike) stance
47. SkullIncrease in the circumference of the headMaxilla : more common / enlargement of the 1/3 faceLionlike facial deformityAlveolar ridges : symmetrical enlargedSpacing of the teethDentures no longer fit
48. RadiographicallyOsteolytic : radiolucentOsteoblastic : radiopaque (patchy /"cotton wool")HypercementosisBone scintigraphy : entire mandible from condyle to condyle, a black beard or Lincoln's sign
49. Resorption and formation of boneOsteoclasts activityOsteoblastic activity Characteristic microscopic feature :Basophilic reversal lines "jigsaw puzzle" or "mosaic" appearance
50. Serum alkaline phosphataseBlood calcium and phosphorusUrinary hydroxyprolineAlkaline phosphatase is more than 25% to 50%Osteosarcoma
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