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IN THE NAME
OF
GOD
Dr.kheirandish DDS,MSC
Oral and maxillofacial pathology
Bone Pathology
Chapter 14
 Osteogenesis Imperfecta
 Osteopetrosis
 Cleidocranial Dysplasia
 Focal Osteoporotic Marrow Defect
 Idiopathic Osteosclerosis
 Massive Osteolysis
 Paget's Disease of Bone
OSTEOGENESIS
IMPERFECTA
o Most common type of inherited bone disease
o Collagen maturation
o Type I collagen
o COL1A1 gene on chromosome 17
o COL1A2 gene on chromosome 7
Collagen forms :
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Major portion of bone
Dentin
Sclerae
Ligaments
Skin
 Autosomal dominant
 Autosomal recessive
 Sporadic
Bone
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Thin cortex
Fine trabeculation
Diffuse osteoporosis
Fracture
Long bone and spine deformities
Blue sclera
Altered teeth
Hypoacusis (hearing loss)
Joint hyperextensibility
Radiographic hallmarks
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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.
Oral cavity
o Both dentitions
o Blue to brown translucence
o Reveal premature pulpal obliteration
o Dentinogenesis imperfecta
o Class III malocclusion (maxillary hypoplasia)
TYPE I OSTEOGENESIS IMPERFECTA
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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
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Most severe form
Extreme bone fragility
Many patients are stillborn, and 90% die before 4 weeks of age
Blue sclerae
Opalescent teeth
Both autosomal recessive and dominant
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
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Mild to moderate bone fragility (decreases after puberty)
Sclerae (blue color fades later in life)
Opalescent dentin/normal teeth.
Autosomal dominant
 Osteoblasts are present
 Bone matrix
 Failure of woven bone to become transformed
to lamellar bone
o No cure
o Symptomatic improvement
 Intravenous (IV) or oral bisphosphonates : decreased
pain, reduced risk of fracture
 Opalescent dentin : severe attrition of their teeth,
leading to tooth loss
OSTEOPETROSIS
 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 :
I. Proton pump
II. Chloride channel
III. Carbonic anhydrase II
 Two major clinical patterns:
1) Infantile osteopetrosis
2) adult osteopetrosis
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
 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)
Intermediate osteopetrosis
o Less severe variants
o Asymptomatic at birth
o Marrow failure
o Hepatosplenomegaly
Transient osteopetrosis
o Radiographic evidence of diffuse sclerosis
o Marrow failure
BUT
o Resolve without specific therapy
o Return to normalcy
ADULT OSTEOPETROSIS
 Benign osteopetrosis
 Discovered later in life
 Autosomal dominant
 Long bones
 Asymptomatic
 Marrow failure
 Two major variants
I. Cranial nerve compression … common / Fractures rare
II. Frequent fractures / Nerve compression … uncommon
 Mandible is involved, fracture and osteomyelitis after
tooth extraction
 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
CLEIDOCRANIAL
DYSPLASIA
Dental and clavicular abnormalities
CBFA1 gene (RUNX2)
Odontogenesis
Odontoblast differentiation
Enamel organ formation
Dental lamina proliferation
Clavicles
o Absent(unilaterally or bilaterally)…10%
o Hypoplasia
o Muscles : underdeveloped
o Neck : long
o Shoulders : narrow / unusual mobility
o Short stature
o Large heads with pronounced frontal and parietal
bossing
o Hypertelorism
o Broad base nose
o Depressed nasal bridge
o Wormian bones
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)
Unerupted permanent teeth
Lack secondary cementum
Insufficient alveolar bone resorption is the reason
for impaired tooth eruption
FOCAL
OSTEOPOROTIC
MARROW DEFECT
 Area of hematopoietic marrow that is sufficient in
size
 May be confused with an intraosseous neoplasm
I.
Aberrant bone regeneration after tooth extraction
II. Persistence of fetal marrow
III. Marrow hyperplasia in response to increased
demand for erythrocytes
o Asymptomatic
o Radiographic examination
o Radiolucent lesion
o Varying in size
o More than 75% : adult women
o 70% : posterior mandible (edentulous areas)
o No expansion
o Hematopoietic and/or fatty marrow
o Incisional biopsy
o Treatment : no
IDIOPATHIC
OSTEOSCLEROSIS
Dense bone island
Bone scar
Enostosis
Focal periapical osteopetrosis
Focal area of increased radiodensity
Unknown cause
Other bones
Nonvital teeth or significantly inflamed pulps :
Condensing osteitis or focal chronic sclerosing
osteomyelitis
 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 )
o Well-defined
o Rounded
o Radiodense mass (uniformly radiopaque OR
nonhomogeneous)
o Radiolucent rim : no
o Associated with a root apex
MASSIVE
OSTEOLYSIS
GORHAM DISEASE
VANISHING BONE DISEASE
PHANTOM BONE DISEASE
o Rare disease
o Spontaneous and usually progressive
destruction of one or more bones
o Replaced by a vascular proliferation…dense
fibrous tissue
o Cause … unknown
o Proliferation of blood or lymphatic vessels that
is occasionally multicentric
o Children and young adults (50% report of
trauma)
o Maxillofacial : 30%
o Mandible
o Mobile teeth
o Pain
o Malocclusion
o Deviation of the mandible
o Deformity
o Obstructive sleep apnea syndrome
o Radiolucent foci of varying size with indistinct
margins…become larger
o Loss of the lamina dura
o Thinning of the cortical plates
o Mimc periodontitis or periapical inflammatory
disease
Early 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
 Spontaneous arrest
 Mortality : Uncommon
 Bone graf
 Radiation therapy is the most successful
 Postirradiation sarcoma
PAGET'S
DISEASE
OF BONE
o Abnormal resorption and deposition of bone
o Distortion and weakening of the affected
bones
o Cause … unknown
 Inflammatory
 Genetic
 Endocrine factors
 Mutations sqstml (p62) / VCP gene
 Virus infection
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Common
Geographic variance
Britain
Men : whites
Older than 45 y/o
o Asymptomatic disease :
o Radiography
o Elevation in serum alkaline phosphatase
o Most cases : polyostotic
o Bone pain : common complaint
o Most commonly affected bones : lumbar vertebrae,
pelvis, skull, and femur
o Simian (monkeylike) stance
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
Radiographically
I.
Osteolytic : radiolucent
II. Osteoblastic : radiopaque (patchy /"cotton wool")
 Hypercementosis
 Bone scintigraphy : entire mandible from condyle
to condyle, a black beard or Lincoln's sign
Resorption and formation of bone
Osteoclasts activity
Osteoblastic activity
Characteristic microscopic feature :
Basophilic reversal lines
"jigsaw puzzle" or "mosaic" appearance
o Serum alkaline phosphatase
o Blood calcium and phosphorus
o Urinary hydroxyproline
o Alkaline phosphatase is more than 25%
to 50%
o Osteosarcoma