disease of bone and joints-joint joint j

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1. Disease Of Bone and Joints

2. Essay Ankylosis Of TMJ. Fibrous Dysplasia. Pagets Disease Ossifying Fibroma Cemento -osseous Dysplasia Short Note Cherubism Cleido Cranial Dysplasia Osteogenesis Imperfecta Pierre Robin Syndrome Mandibulo Facial Dysostosis ( Treachercollin’s Syndrome) Downs Syndrome Marfans Syndrome Hyperparathyroidism

3. First ! How A Normal Bone Looks ???

4. Cortical bone Medullary /spongy bone

5. How a normal bone looks in OPG Cortical bone Medullary /spongy bone

6. Cortical bone Medullary /spongy bone Blood vessels How a normal bone looks in microscope

7. lamina dura Peridontal space Alveolar bone

8. osteoblast osteoblast osteocyte Stages of Bone formation Bone matrix

9. BONE REMODELLING

10. Radiolucent Radiopaque

11. Disease Clinical Feature Radiological Feature Histopathology Treatment / lab investigation Special Feature Name/ Classification/ etiology / Pathogenesis/ Types/ Age/ Gender/ Size/site/ Pain/ Swelling Duration/ Symptoms/ Tooth associated Radiolucent/ Radiopaque/ Mixed/ Border/ Bone type/ Osteoclast/ Osteoblast/ Osteocyte/

12. Case - 1

13. Lion -like facial deformity ( leontiasis ossea )

14. Symmentric Enlargment of maxilla

15. Symmentric Enlargment / Flattened Palatal Vault / Difficult Lip Closure

16. Acquired Diastema

17. Maxilla > mandible

18. Bowing of legs = simian stance Most Cases are Polyostotic Size of hat changes

19. Skull shows Radiolucent To Radiopaque

20. Opacification Of The Maxilla And Skull

21. Cotton Wool Appearance

22. Obliteration Of Periodontal Ligament Space

23. Extensive Hypercementosis

24. Laboratory Findings High serum alkaline phosphatase levels - twice the normal level = Very Important Findings normal blood calcium and phosphorus levels. Urinary hydroxyproline levels elevated markedly. Urinary Pyridinium collagen cross-links elevated ( bone resorption )

25. Histopathology finding

26. Basophilic Reversal line Bone trabeculae with reversal line Bone trabeculae

27. Hyperactive Bone Turnover State Abnormal and anarchic resorption and deposition of bone , resulting in distortion and weakening of the affected bones Male patient Old People … > 50 Most cases are polyostotic Case summmary

28. Common complaint = severe bone pain Initial complaint = denture is too tight Weight - bearing bones = bowing deformity Bones mostly affected - Lumbar Vertebrae, Pelvis, Skull, And Femur Perception Of Elevated Skin Temperature Over The Affected Bone. Classic Radiographic Findings In The Late Stage = Cotton Wool Appearance

29. Histopathology Uncontrolled resorption and formation of bone working alternatively Resorption phase – active osteoclast seen Sclerotic/formative phase – active osteoblast seen Characteristic Microscopic Feature = Presence Of Basophilic Reversal Lines In The Bone = "Jigsaw Puzzle " Or "Mosaic" appearance of the bone

30. Treatment Aymptomatic patient with limited disese No Treatment Symptomatic Or Extensice Disease Bisphosphonate therapy = normalize alkaline phophotase level, bone pain NSAID = controlling pain

31. PAGET’S DISEASE (OSTEITIS DEFORMANS)

32. Case - 2

33. First Clinical Signs = subperiosteal resorption of the phalanges of the index and middle fingers

34. well-demarcated unilocular or multilocular radiolucencies

35. Multilocular Radiolucencies in jaw

36. Ground Glass

37. Ground glass appearance Normal bone Loss of lamina dura lamina dura

38. X-ray Report First Clinical Signs = subperiosteal resorption of the phalanges of the index and middle fingers . Early manifestation = Loss of lamina dura Multiple bone lesions Ground glass appearance

39. Gross picture - Abundant Hemorrhage & Hemosiderin Deposition

40. Laboratory Findings Elevated serum parathormone (PTH) Elevated calcium and alkaline phosphatase levels Decreased phosphate levels

41. Histopathology finding

42. vascular granulation tissue multinucleated osteoclast - type giant cells

43. Histopathology Benign Tumor Like Lesion a proliferation of exceedingly vascular granulation tissue numerous multinucleated osteoclast - type giant cells

44. Usually asymptomatic Several clinical features classically described as “ stones, bones, groans (Abdominal Pain ), and moans (CNS Problem).” Early symptoms = fatigue, weakness, nausea, anorexia, arrhythmias, polyuria, thirst, depression, and constipation. Bone pain and headaches Case summary

45. Primary Hyperparathyroidism —parathyroid Adenoma, Adenocarcinoma, Hyperplasia Secondary Hyperparathyroidism —compensatory Hyperplasia For Low Serum Calcium Levels Caused By Renal Failure

46. HYPERPARATHYROIDISM (BROWN TUMOUR)

47. CASE -3

48. 1 2 3 4 Micrognathia Glossoptosis High-arched Or Cleft Palate In Neonates 4. Breathing Difficulty

49. Birth defect Male = female Mandible = micrognathia , small body, obtuse gonial angle, posteriorly located condyle Severe breathing problem + feeding problem Cleft palate Other associated anamolies Hearing loss/ nasal deformities/ dental malformation/ phitrum malformation Case summary

50. PIERRE ROBIN SYNDROME

51. CASE - 4

52. Increased Infection after incident trauma

53. Leading to Osteomyelitis

54. Oral findings Delayed Dental Eruption = Bony Ankylosis , Absence Of Alveolar Bone Resorption Congenitally Absent Teeth, Unerupted Teeth, Enamel Hypoplasia

55. Can’t differentiate cortex and medulla

56. Can’t differentiate cortex and medulla

57. Can’t differentiate cortex and medulla

58. Narrowing Of Skull Foramina

59. Histopathology finding

60. a defect in remodeling caused by failure of normal osteoclast function .

61. Histopathology A defect in remodeling caused by failure of normal osteoclast function. The number of osteoclasts present is often increased

62. Case summary Bone pain is the most common symptom. first sign of the disease often is pathologic fracture.

63. Rare + Hereditary Failure Of Osteoclast Function Generalized Symmetric Increase In Skeletal Density Sclerosis Of Bone Marrow / Decreased Hematopoietic Activity / Growth Retardation. Dense, Poorly Structured Bone That Is Fragile

64. OSTEOPETROSIS (MARBLE BONE DISEAS E)

65. CASE - 5

66. Fragile and porous bone = chief feature

67. Large Head Size, Frontal Bossing

68. Bowing of the lower limbs

69. Bowing of the lower limbs

70. Pale blue sclera = 2nd feature

71. Blue To Brown Translucence (like dentinogenesis imperfecta ) Class III Malocclusion

72. Case summary Fragile and porous bone = chief feature Pale blue sclera = 2nd feature Deafness due to otosclerosis Bowing of the lower limbs Laxity of ligaments Large Head Size, Frontal Bossing

73. ORAL FINDINGS Both Dentitions = Blue To Brown Translucence (Like Dentinogenesis Imperfecta) = Premature Pulpal Obliteration Class III Malocclusion = Maxillary Hypoplasia Impactions + Ectopic Teeth

74. Histopathology Cortical bone appears attenuated. Osteoblasts are present, but bone matrix production is reduced markedly . The bone architecture remains immature = woven bone

75. osteoblast osteoblast osteocyte Bone formation Collagen fibres

76. Heterogeneous Group Of Heritable Defects Of Connective Tissue Mutation In COL1A1 = 17q21 COL1A2 = 7q22.1 Mesodermal Tissue = Collagen Forms A Major Portion Of Bone, Dentin, Sclerae , Ligaments, And Skin Abnormal Collagenous Maturation Results In Bone With A Thin Cortex, Fine Trabeculation, And Diffuse Osteoporosis .

77. OSTEOGENESIS IMPERFECTA

78. CASE - 6

79. Polystotic Syndrome +Polystotic Monostotic - BONE - CAFE AU-LAIT - ENDOCRINE

80. Cafe Au Lait Pigmentation= Unilateral Tan Macules = Trunk And Thighs = Margins Look Like Map Of The Coast Line Of Maine

81. polyzygotic mutation in GNAS1 GENE (guanine nucleotide binding protein, α-stimulating activity polypeptide) Increase Cyclic AMP

82. A . Undiferentiated Stem Cell – polystotic + syndrome 1. Endocrine Glands 2. Increased Melanocytes 3. Osteoblast Differentiation B. Skeletal Progenitor Cells At Later Stages Of Embryonic Development - polystotic C. Postnatal Life - monostotic

83. Slow growth / First + second decades (stabilizes at puberty and very slow growth thereafter)

84. Painless swelling of jaw / Buccal cortical bone

85. Maxilla > mandible / tooth usually firm

86. Leonine Appearane

87. Cranio Facial Form

88. Maxilla more serious / Obliterates Maxillary Sinus

89. Ground Glass appearance

90. 1 2 3 1. Radiolucent appearance – 1st stage 2. Mixed (radiopaque + radiolucent) appearance – 2nd stage 3. radioopaque appearance – 3rd stage

91. No Resorption Of Roots / Margins Blends With Surrounding Bone

92. Narrowing Of Periodontal Ligament / Ill-defined Lamina Dura

93. Small chips of bone – ie bone not coming as whole mass during surgery Example of bone coming as whole mass GROSS FINDINGS

94. Lesions expands concentrically from the medullary cavity outward i.e cortex

95. Thickening of base of the skull – characteristic of cranio facial form

96. Lab Findings Serum Laboratory Values Normal

97. Histopathology

98. C- shaped bone trabeculae -Woven bone

99. Fibrous tissue Bone trabeculae No osteoblast osteocyte

100. Irregularly shaped trabeculae of immature (woven) bone in a fibrous stroma. 2. Bone trabeculae likened to chinese script writing. 3. Bone trabeculae are considered to arise by metaplasia and are not surrounded by plump appositional osteoblasts 4. Monotonous pattern throughout the lesion 5. Lesional bone fuses directly to normal bone at the periphery of the lesion, so that no capsule or line of demarcation is present

101. Case summary Defect Osteoblast differentiation and maturation Non-hereditary Medullary bone replaced by fibrous tissue Progressive expanding fibrous lesions of bone-forming mesenchyme.

102. Treatment Surgical Recontouring For Cosmetics (After Growth Spurt)

103. Fibrous Dyplasia

104. CASE - 7

105. Narrow, High-arched Palate

106. Enophthalmos Downward-slanted Palpebral Fissures Malar Hypoplasia Narrow Maxilla Retrognathia Long And Narrow

107. Downward-slanted Palpebral Fissures

108. Arms, Legs, And Digits are Disproportionately Long And Slender

109. Oral Findings Bifid Uvula Dental Crowding. Malocclusion Temporomandibular Dysarthrosis

110. X-ray Increased skull height Enlarged frontal sinus

111. Case summary The Arms, Legs, And Digits Are Disproportionately Long And Slender Compared With The Patient's Trunk. The Cardiovascular System is affected in nearly all persons = Mitral Valve Prolapse The Most Common Eye Anomaly = Myopia (Near Sightedness).

112. Heritable disorder of connective tissue = skeletal, cardiovascular, and ocular systems. Diagnosis = abnormalities of the musculoskeletal, ocular, and cardiovascular systems and a positive family history. Gene for fibrillin ( FBN1 ) = strength to a component of connective tissue, probably collagen.

113. MARFAN SYNDROME

114. Case - 8

115. First Presenting = Premature loss of the primary dentition

116. Premature Loss Of The Primary Dentition

117. Enlarged Pulp Chambers Of The Primary Teeth

118. Absence Or A Marked Reduction Of Cementum

119. Radiographic - Beaten Copper appearance of skull areas of thinning of the inner cortical plate produced by the cerebral gyri

120. Laboratory findings Reduced levels of the bone, liver and kidney isozyme of alkaline phosphatase • Increased levels of blood and urinary phosphoethanolamine

121. HISTOLOGY Infantile Form - Poorly Mineralized Osteoid Childhood Or Adult Form - Relatively Normal Or It May Show An Increased Amount Of Woven Bone Absence Or A Marked Reduction Of Cementum That Covers The Root's Surface

122. First Presenting = Premature Loss Of The Primary Dentition Enlarged Pulp Chambers Of The Primary Teeth Alveolar Bone Loss = Anterior Portion Of The Mandible And Maxilla Bone Abnormalities That Resemble Rickets Case summary

123. A Deficiency Of Alkaline Phosphatase. Gene ALPL = 1p36.1 – 34 Long bones show inadequate levels of mineralization with abnormally wide osteoid seams . Primary Dentition is nearly exclusively involved Inadequate Formation Of Both Dentin And Cementum .

124. HYPOPHOSPHATASIA

125. CASE - 9

126. Aplasia Or Hypoplasia Of The Clavicles

127. Aplasia Or Hypoplasia Of The Clavicles

128. Short stature/ Large heads/ Frontal bossing/

129. Ocular hypertelorism Broad based nose with a depressed nasal bridge Madibular prognathism

130. Depressed Nasal Bridge / Mandibular Prognathism

131. Narrow & High Arched Palate

132. Retention Of Deciduous Teeth And Delay / Complete Failure Of Eruption Of Permanent Teeth

133. Case summary Characteristic Features = Retention Of Deciduous Teeth And Delay Or Complete Failure Of Eruption Of Permanent Teeth Are Most Dramatic Finding = Presence Of Numerous Unerupted Permanent And Supernumerary Teeth Absence Of Cellular Cementum Inadequate Vertical Growth Of The Maxilla = Short Face And Mandibular Prognathism

134. Aplasia Or Hypoplasia Of The Clavicles Characteristic Craniofacial Malformations CBFAI Gene Of Chromosome 6 P 2 = Guides Osteoblastic Differentiation And Appropriate Bone Formation Generalized Disorder Of Skeletal Structures Chiefly Involve The Clavicles And Skull Neck Appears Long + Shoulders Are Narrow And Show Marked Drooping

135. CLEIDOCRANIAL DYSPLASIA

136. Case - 10

137. Fibrous… Bone trabeculae Fibrous tissue Fibro-osseous lesions are a diverse group of processes that are characterized by replacement of normal bone by fibrous tissue containing a newly formed mineralized product .

138. Fibro-osseous lesions of the jaws are the following: 1. Fibrous dysplasia 2. Cemento -osseous dysplasia a. Focal cemento -osseous dysplasia b. Periapical cemento -osseous dysplasia c. Florid cemento-osseous dysplasia 3. Ossifying fibroma

139. Third and fourth decades of life. Female predilection Relatively slow growing tumor Cortical plates of bone and overlying mucosa or skin are almost invariably intact .

140. generally asymptomatic until the growth produces a noticeable swelling and mild deformity

141. Small lesions - seldom cause any symptoms and are detected only on radiographic examination .

142. Larger tumors result in a painless swelling of the involved bone

143. mandible > maxilla. mandibular premolar and molar area is the most common site.

144. displacement of teeth may be an early clinical feature tooth usually firm Fibrous dysplasia

145. Root divergence or resorption of roots of teeth associated with the tumor

146. 1 2 3 1. Radiolucent appearance – 1st stage 2. Mixed ( radiopaque + radiolucent) appearance – 2 nd stage 3. radioopaque appearance – 3 rd stage

147. Radiographically , the lesion most often is well defined and unilocular

148. Large ossifying fibromas of the mandible demonstrate a characteristic downward bowing of the inferior cortex of the mandible.

149. Small chips of bone – ie bone not coming as whole mass during surgery Example of bone coming as whole mass Gross Findings Fibrous Dysplasia

150. HISTOPATHOLOGY

151. hard tissue = trabeculae of osteoid and bone <or > basophilic and poorly cellular spherules that resemble cementum Admixtures of the two types are typical.

152. Peripheral osteoid and osteoblastic rimming are usually present

153. cementum -like material often demonstrate peripheral brush borders that blend into the adjacent connective tissue

154. TREATMENT

155. circumscribed nature of the ossifying fibroma generally permits enucleation of the turnor with relative ease

156. True neoplasm with a significant growth potential

157. OSSIFYING FIBROMA

158. Case - 11

159. Bilateral / Downward Sloping Palpebral Fissures / Colobomas Of Lower Eyelid Zygomas Hypoplastic Long And Marrow Face

160. Deformed Pinna

161. Mandibular Hypoplasia & Midface Hypoplasia

162. X-ray - hypoplasia of the condylar and coronoid processes

163. Primarily affects structures developing from the First Branchial Arch

164. Case summary Gene Mapped To Chromosome 5q31.3-32. Cleft Palate Infants Respiratory + Feeding Difficulties = Hypoplasia Of The Nasopharynx, Oropharynx, And Hypopharynx Death = Respiratory Complications = Mandibular Hypoplasia + Improper Tongue Position

165. MANDIBULOFACIAL DYSOSTOSIS (TREACHER COLLINS SYNDROME)

166. Case - 12

167. Premature exfoliation of the primary dentition = early as 3 years of age

168. 2-5 years/ Symmetric (bilateral) of posterior mandible

169. Marked fullness of the jaws and cheeks

170. upwardly gazing eyes Exposed sclerae noted below iris

171. Mandibular Angle, Ascending Ramus, Retromolar Region, Posterior Maxilla Most Affected. Condyles Are Always Spared.

172. Numerous well-defined multilocular radiolucencies of the jaws

173. Unerupted teeth displaced = floating in the cyst-like spaces.

174. Vascularized Fibrous Stroma Containing Multinucleated Giant Cells . Multinucleated Giant Cells

175. Eosinophilic Perivascular Cuffing Of Collagen Surrounding Small Capillaries Throughout The Lesion. Small Capillaries Eosinophilic Perivascular Cuffing

176. Case summary Gene = Chromosome 4p16.3, Which Encodes The Sh3-binding Protein, SH3 BP2. Benign Hereditary Condition Of The Maxilla And/Or Mandible, Usually Found In Children By 5 Years Of Age Buccal Expansion To 12 Years Of Age, Then Stabilization. Typically = Painless Symmetric Enlargement Intraorally = A Hard, Nontender Swelling – Palpated Submandibular And Upper Cervical Lymphadenopathy = Common

177. CHERUBISM

178. Case - 13

179. Brachycephalic flat face + prominent forehead ocular hypotelorism flattened nasal bridge almond shaped eye/upward-slanting palpebral fissures

180. Fissured Tongue Macroglossia

181. High arched palate

182. Periodontal Disease

183. Eruption of both the primary and the permanent dentitions is delayed in 75% of cases

184. Case summary Common and easily recognizable chromosome aberration Most cases of TRISOMY 21 are caused by nondisjunction , resulting in an extra chromosome. More than half of the affected fetuses spontaneously abort during early pregnancy Skeletal = short stature – broad and short hands - frontal and sphenoid sinuses absent - maxillary sinus is hypoplastic

185. Congenital heart disease - 30% to 45% cases Thyroid dysfunction - 50% cases Three or more dental anomalies - 50% cases Increased laxity of the transverse ligaments between the atlas and the odontoid process Manipulation Of The Neck In Patients Undergoing Dental Therapy Or General Anesthesia Irreversible Spinal Cord Damage

186. DOWN SYNDROME

187. CASE 14

188. Maxillary hypoplasia , Hypertelorism , Protruding eye

189. premature synostosis of the coronal suture

190. premature synostosis of the coronal suture NO SUTURES

191. Maxillary hypoplasia , Short upper lip mandibular prognathism

192. High Arched Palate

193. Posterior Cross Bite

194. HAMMERED-SILVER APPEARANCE OF SKULL

195. Radiographs of the skull Obliterated Suture Lines With Obvious Bony Continuity. A Hammered-silver Appearance Is Often Seen In Regions Of The Skull Where Compensatory Deformity Cannot Occur. A large calvarium with hypoplasia of the maxilla, a relatively large mandible and shallow orbits are common .

196. CASE SUMMARY Premature Closing Of The Cranial Sutures. Mutation Of The Fibroblast Growth Factor Receptor 2 ( Fg Fr2) Gene On Chr 10q. Striking feature = Frog Like Face < Mid-face Hypoplasia + Exophthalmos > Nose Resembling A Parrot's Beak Maxillary Hypoplasia = Narrowing Of Maxillary Arch + Compressed, High-arched Palate .

197. CROUZON'S SYNDROME (CRANIOFACIAL DYSOSTOSIS)

198. Case 15

199. Dislocation Of the jaw occurs when the mandibular condyle moves anterior to the articular eminence .

200. Case summary Ankylosis = " fusion" of body parts = opposing components of a joint. The fusion can be fibrous or bony in nature -usually fibrous when the TMJ is involved Joint infection (after trauma) - 50% First decade Gradually worsening inability to open the jaws Mandible shifting toward the affected side on opening. Hemifacial microsomia

201. Reference Shaffer Book Allen - Neville Book Regezzi - ( Clinico Pathological Correlation 5 th edition) Book