1. IN THE NAME OF GOD Dr.kheirandish DDS,MSC
Oral and maxillofacial pathology

2. Bone Pathology
Chapter 14

3. Osteogenesis Imperfecta
Osteopetrosis
Cleidocranial Dysplasia
Focal Osteoporotic Marrow Defect
Idiopathic Osteosclerosis
Massive Osteolysis
Paget's Disease of Bone

4. OSTEOGENESIS
IMPERFECTA

5. Type I collagen Collagen forms :
Most common type of inherited bone disease
Collagen maturation
Type I collagen
COL1A1 gene on chromosome 17
COL1A2 gene on chromosome 7
Collagen forms :
Major portion of bone
Dentin
Sclerae
Ligaments
Skin
Autosomal dominant
Autosomal recessive
Sporadic

6. Hypoacusis (hearing loss) Joint hyperextensibility
Bone
Thin cortex
Fine trabeculation
Diffuse osteoporosis
Fracture
Long bone and spine deformities
Blue sclera
Altered teeth
Hypoacusis (hearing loss)
Joint hyperextensibility

7. Radiographic hallmarks
Osteopenia
Bowing
Angulation
Deformity of the long bones
Multiple fractures
Wormian bones in the skull (not specific)
Wormian bones
10 or more sutural bones that are 6 x 4 mm in diameter or larger and arranged in a mosaic pattern.

9. Oral cavity Both dentitions Blue to brown translucence
Reveal premature pulpal obliteration
Dentinogenesis imperfecta
Class III malocclusion (maxillary hypoplasia)

10. TYPE I OSTEOGENESIS IMPERFECTA
Most common and mildest form
Mild to moderately severe bone fragility
Hearing loss commonly develops before age 30
Hypermobile joints and easy bruising
Opalescent dentin
Blue sclerae
Autosomal dominant
TYPE II OSTEOGENESIS IMPERFECTA
Most severe form
Extreme bone fragility
Many patients are stillborn, and 90% die before 4 weeks of age
Opalescent teeth
Both autosomal recessive and dominant

11. TYPE III OSTEOGENESIS IMPERFECTA
Most severe form noted in individuals beyond the perinatal period
Severe bone fragility
Sclerae (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 IMPERFECTA
Mild to moderate bone fragility (decreases after puberty)
Sclerae (blue color fades later in life)
Opalescent dentin/normal teeth.
Autosomal dominant

12. Osteoblasts are present
Bone matrix
Failure of woven bone to become transformed to lamellar bone

13. Symptomatic improvement
No cure
Symptomatic improvement
Intravenous (IV) or oral bisphosphonates : decreased pain, reduced risk of fracture
Opalescent dentin : severe attrition of their teeth, leading to tooth loss

14. OSTEOPETROSIS

15. MARBLE BONE DISEASE
Increase in bone density
Failure of normal osteoclast function (Number of osteoclasts … Bone is not resorbed)
Key elements necessary for osteoclast function :
Proton pump
Chloride channel
Carbonic anhydrase II
Two major clinical patterns:
Infantile osteopetrosis
adult osteopetrosis

16. INFANTILE OSTEOPETROSIS
Malignant osteopetrosis
Autosomal recessive
Marrow failure
Frequent fractures
Cranial nerve compression
Initial signs
Normocytic anemia
Hepatosplenomegaly(resulting from compensatory extramedullary hematopoiesis)
Granulocytopenia : Increased susceptibility to infection

17. Facial deformity
Broad face
Hypertelorism
Snub nose
Frontal bossing
Tooth eruption : delayed
Narrowing skull foramina
Press on the cranial nerves
Optic nerve atrophy and blindness
Deafness
Facial paralysis
Pathologic fractures : common
Osteomyelitis : common complication of tooth extraction
Increase in skeletal density (distinction between cortical and cancellous bone is lost)

18. Intermediate osteopetrosis
Less severe variants
Asymptomatic at birth
Marrow failure
Hepatosplenomegaly
Transient osteopetrosis
Radiographic evidence of diffuse sclerosis
BUT
Resolve without specific therapy
Return to normalcy

19. ADULT OSTEOPETROSIS Benign osteopetrosis Discovered later in life
Autosomal dominant
Long bones
Asymptomatic
Marrow failure
Two major variants
Cranial nerve compression … common / Fractures rare
Frequent fractures / Nerve compression … uncommon
Mandible is involved, fracture and osteomyelitis after tooth extraction

20. Abnormal endosteal bone formation
Numerous osteoclasts
Adult osteopetrosis : long-term survival
Infantile osteopetrosis : bone marrow transplantation
Interferon gamma-1b + calcitriol :
Reduce bone mass
Decrease infections
Lower nerve compression
Corticosteroids
Limiting calcium intake
Antibiotics

22. CLEIDOCRANIAL
DYSPLASIA

23. Dental and clavicular abnormalities
CBFA1 gene (RUNX2)
Odontogenesis
Odontoblast differentiation
Enamel organ formation
Dental lamina proliferation

24. Clavicles Absent(unilaterally or bilaterally)…10% Hypoplasia
Muscles : underdeveloped

25. Wormian bones Neck : long Shoulders : narrow / unusual mobility
Short stature
Large heads with pronounced frontal and parietal bossing
Hypertelorism
Broad base nose
Depressed nasal bridge
Wormian bones

26. Dental and jaw manifestations
Small or absent maxillary sinuses
Mandibular prognathism
Narrow, high-arched palate
Cleft palate
Prolonged retention of deciduous teeth
Delay or complete failure of eruption of permanent teeth
Numerous unerupted permanent and supernumerary teeth (more than 60)

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 neoplasm
Aberrant bone regeneration after tooth extraction
Persistence of fetal marrow
Marrow hyperplasia in response to increased demand for erythrocytes

31. Asymptomatic
Radiographic examination
Radiolucent lesion
Varying in size
More than 75% : adult women
70% : posterior mandible (edentulous areas)
No expansion

32. Hematopoietic and/or fatty marrow
Incisional biopsy
Treatment : no

33. IDIOPATHIC OSTEOSCLEROSIS Dense bone island Bone scar Enostosis
Focal periapical osteopetrosis

34. Focal area of increased radiodensity
Unknown cause
Other bones
Nonvital teeth or significantly inflamed pulps :
Condensing osteitis or focal chronic sclerosing osteomyelitis

35. Blacks and asians
Late first or early second decade
Slow increase in size
Asymptomatic
Cortical expansion : no
Routine radiographic examination
Mandible : 90% (first molar / second premolar / second molar )

36. Well-defined
Rounded
Radiodense mass (uniformly radiopaque OR nonhomogeneous)
Radiolucent rim : no
Associated with a root apex

37. MASSIVE OSTEOLYSIS GORHAM DISEASE VANISHING BONE DISEASE
PHANTOM BONE DISEASE

38. Rare disease
Spontaneous and usually progressive destruction of one or more bones
Replaced by a vascular proliferation…dense fibrous tissue
Cause … unknown
Proliferation of blood or lymphatic vessels that is occasionally multicentric

39. Children and young adults (50% report of trauma)
Maxillofacial : 30%
Mandible
Mobile teeth
Pain
Malocclusion
Deviation of the mandible
Deformity
Obstructive 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

42. Early stages : Later stages :
Nonspecific vascular proliferation intermixed with fibrous connective and a chronic inflammatory infiltrate
Later stages :
More collagenized
Repair by new bone formation is not seen

43. Spontaneous arrest
Mortality : Uncommon
Bone graf
Radiation therapy is the most successful
Postirradiation sarcoma

44. PAGET'S
DISEASE
OF BONE

45. Abnormal resorption and deposition of bone
Distortion and weakening of the affected bones
Cause … unknown
Inflammatory
Genetic
Endocrine factors
Mutations sqstml (p62) / VCP gene
Virus infection

46. Common
Geographic variance
Britain
Men : whites
Older than 45 y/o
Asymptomatic disease :
Radiography
Elevation in serum alkaline phosphatase
Most cases : polyostotic
Bone pain : common complaint
Most commonly affected bones : lumbar vertebrae, pelvis, skull, and femur
Simian (monkeylike) stance

47. Skull Increase in the circumference of the head
Maxilla : more common / enlargement of the 1/3 face
Lionlike facial deformity
Alveolar ridges : symmetrical enlarged
Spacing of the teeth
Dentures no longer fit

48. Radiographically Osteolytic : radiolucent
Osteoblastic : radiopaque (patchy /"cotton wool")
Hypercementosis
Bone scintigraphy : entire mandible from condyle to condyle, a black beard or Lincoln's sign

49. Resorption and formation of bone
Osteoclasts activity
Osteoblastic activity
Characteristic microscopic feature :
Basophilic reversal lines
"jigsaw puzzle" or "mosaic" appearance

50. Serum alkaline phosphatase
Blood calcium and phosphorus
Urinary hydroxyproline
Alkaline phosphatase is more than 25% to 50%
Osteosarcoma