Bone Pathology I Flashcards

1
Q

What are the categories of Osteodystrophy

A
  1. Genetic Diseases
  2. Metabolic Diseases
  3. Others or unknown causes
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2
Q

What Osteodystrophic diseases are considered genetic diseases

A
Osteogenesis imperfecta
Osteoporosis
Cleidocranial Dysplasia
Cherubism
Hypophosphatasia
Vitamin D-resistant rickets
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3
Q

What Osteodystrophic diseases are considered metabolic diseases

A

Rickets
Steomalacia
Hyperparathyroidism
Renal osteodystrophy

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4
Q

What Osteodystrophic diseases are classified as either others or unknown causes

A
Paget's disease of bone
Fibrous dysplasia
Aneurysmal bone cyst
Idiopathic osteosclerosis
Focal osteoporotic bone marrow defect
Bisphosphonate-associated osteonecrosis of jaw
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5
Q

Most common inherited bone disease

A

Osteogenesis imperfecta

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6
Q

Pathology of Osteogenesis imperfecta

A

Mutations in collagen type I

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7
Q

Symptoms and presentation of Osteogenesis imperfecta

A
Bone fragility and deformity
Joint hyper extensibility
Hearing loss
Blue sclera
\+-opalescent teeth (dentinogenesis imperfecta)
  • Abnormal collagen result in bones with a thin cortex and osteoporosis which are soft and prone to fracture.
  • Bones characterized by bowing, angulation and deformity
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8
Q

Describe the different forms and inheritability of Osteogenesis imperfecta

A

Type I-IV
Autosomal dominant or recessive
- Severity varies

Rare form with florid cemento-osseus dysplasia

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9
Q

Management of Osteogenesis imperfecta

A

Physiotherapy
Orthopedic therapy
Bisphosphonates, IV or oral, for more severe patients but long term outcome in pediatric patients unknown

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10
Q

What is Osteopetrosis (Marble bone disease)

A

Defect in osteoclast function

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11
Q

Describe the genetic inheritance of infantile osteopetrosis

A

Autosomal recessive

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12
Q

Characteristics of infantile osteopetrosis

A

Severe
Sclerotic skeleton
Marrow failure (anemia, hepatosplenomegaly, osteomyelitis)
Facial deformity
Neurological deficit (paralysis, blindness, deafness)

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13
Q

Describe the genetic inheritance of Adult osteopetrosis

A

Autosomal dominant

- Mild, 40% asymptomatic

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14
Q

Dental considerations for Osteopetrosis

A

Jaws affected
Although bones denser, they are more fragile
Fractures
Fracture and osteomyelitis after both extraction

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15
Q

Management of Infantile osteopetrosis

A

Prognosis poor

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16
Q

Management of Adult osteopetrosis

A

Variable prognosis, some long term survival

  • Bone marrow transplantation
  • Other experimental protocols
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17
Q

What is Cleidocranial Dysplasia

A

Defect of differentiation of osteoblasts and a subset of chondrocytes caused by mutations

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18
Q

Describe the genetic inheritance of Cleidocranial dysplasia

A

Autosomal dominant or somatic mutation

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19
Q

Clinical characteristics or features of Cleidocranial Dysplasia

A
Short stature
Frontal bossing
Patent fontanels
Late closure of cranial sutures
Absence or hypoplasia of the clavicles
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20
Q

Dental characteristics of Cleidocranial Dysplasia

A

Retention of deciduous teeth
Delayed eruption of permanent teeth
Supernumerary teeth
+- narrow high arched plate

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21
Q

Prognosis and management of Cleidocranial Dysplasia

A
  • Prognosis good and no treatment for the developmental bone disorder
  • Dental treatment planning based on clinical findings
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22
Q

What is the genetic inheritability of Cherubism

A

Autosomal dominant or spontaneous mutation

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23
Q

Clinical characteristics of Cherubism

A

Bilateral post. mandibular painless swelling
Maxillary swelling push the orbital base upward
Upturned eyes
Rounded eyes

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24
Q

When is cherubism most common?

A

Average 7 y/o (14 months - 12 y/o)

Progress until puberty then slowly regress

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25
Radiographic features of Cherubism
- Radiolucency - Usually multilocular - Bilateral of posterior mandible - Often from mandibular notch on one side to contralateral side - Usually with maxillary involvement also
26
Histopathology of Cherubism
Giant cell granulomas
27
What is the natural history of Cherubism
stabilization around puberty and often regression
28
What is hypophosphatasia
Mutations of non-specific alkaline phosphatase (liver-, bone-, or kidney-type)
29
What is the genetic inheritability of Hypophosphatasia
Variable degrees of expression | - Autosomal dominant or recessive
30
Clinical characteristics of Hypophosphatasia
- Reduces levels of ALP in liver, bone, kidney, intestine and serum - Increased levels of blood and urinary phosphor-ethanolamine - Bone abnormalities similar to rickets Dental: Premature loss of primary (or permanent) teeth due to lack of cementum
31
What is the genetic inheritability of Vitamin D-resistant Rickets (Hereditary hypophosphatemia)
X-linked dominant trait severity varies Caused by mutations
32
Clinical characteristics of Vitamin D-resistant Rickets
- Decreased reabsorption of phosphate from renal tubules - Decreased intestinal absorption of calcium - Hypophosphatemia - Shortened lower body segment? Dental: - Large pulp horns extending to DEJ - Cleft in dentin - Periodical abscess
33
Vit D deficiency during infancy = ?
Rickets
34
Vit D deficiency during adulthood = ?
Osteomalacia
35
Describe the clinical characteristics of Rickets
Growth retardation Prominence of the costochondral junctions Bowing of the legs
36
Describe the clinical characteristics of Osteomalacia
Weak bone Fractures Diffuse skeletal pain
37
Describe Primary Hyperparathyroidism
Parathyroid adenoma (80-90%) or hyperplasia
38
Demographics of Primary Hyperparathyroidism
> 60 y/o | Increase in females
39
Pathology of Primary Hyperparathyroidism
Increase in PTH = Increase bone resorption = increase serum Ca
40
Describe Secondary Hyperparathyroidism
Secondary to chronic renal disease - Vitamin D Activation in kidney decreases - Absorption of calcium in intestine decreases - Serum calcium decreases = PTH increases
41
Clinical characteristics of Hyperparathyroidism
- Stones, bone and abdominal groans - Kidney stones, calcifications in b.v. - Subperiosteal resorption of the phalanges of the fingers - Loss of lamina dura - Ground glass trabecular pattern - Brown tumor (radiolucency) - Renal osteodystrophy (secondary hyperpara) - Duodenal ulcers - Histo of brown tumor: indistinguishable from central giant cell granuloma
42
What is Renal Osteodystrophy
Complication of secondary hyperparathyroidism in end-stage renal stage - Enlargement of the jaws - Radiography: Ground glass pattern - Histology: fibre-osseous lesion
43
Describe Paget's disease of bone
Accelerated resorption and deposition of bone | - ultimately osteoblasts win and bones become sclerotic, larger and brittle
44
Demographics of Paget's disease of bone
Geographic variance in prevalence White Male predominant Older than 40 yrs
45
Clinical characteristics of Paget's disease of bone
Monostotic but increased Polyostotic - Bone pain - Deformity - Weakened bone - Can be asymptomatic
46
Etiology of Paget's disease of bone
Paramyxovirus infection; | Genetic factor
47
Radiographic features of Paget's disease of bone
Well defined RL --> Mixed RL/RO --> Cotton wool-like RO | Generalized hypercementosis
48
How to diagnose Paget's disease of bone
- Clinical - Radiographic - Laboratory (increase alk phosphatase; usually normal Ca, increase urinary hydroxyproline) - Scintigraphical findings
49
Complications of Paget's disease of bone
Fracture | Malignant transformation
50
What is Fibrous dysplasia
- A postzygotic mutation - Bones become replaced with fibrous tissue and immature bone Gene encodes stimulatory G protein alpha subunit, activates adenylyl cyclase --> cAMP, Affects differentiation of preosteoblasts, prolonged activation stimulates endocrine receptors
51
Anatomic distribution of Fibrous Dysplasia
80-85% Monostotic Polyostotic Craniofacial Polyostotic with café au lait spots (Jaffe-Lichtenstein syn. ) Polyostotic with café au lait spots (McCune-Albright Syn.)
52
Clinical features and demographics of Fibrous Dysplasia
- 1-2 decades - equal in males and females - Long bone: pain and fracture - Craniofacial: expansion and disfigurement, crosses suture lines - Craniofacial involved about 1/3 - CFFD may compress vital structures - Optic nerve compression may result in blindness
53
McCune-Albright Syndrome
Somatic mosaicism accounts for clinical diversity - Hyperendocrine function: > gonads, thyroid - Sexual precocity, > girls - Café au last spots within first two years, irregular margins - Polyostotic, > long bones, CFFD in 1/4 - CFFD morbidity assoc with > GH
54
Radiographic features of Fibrous Dysplasia
- Early lesions radiolucent --> mixed --> ground glass opacity - Margins blend - cortical expansion - cortical reaction absent
55
Demographic and locations of Central Giant Cell Granuloma
Female > Male Before 30 years of age 70% in mandible Anterior jaws and classically crosses the midline
56
Clinical features of Central giant Cell granuloma
Nonaggressive - Asymptomatic, Slow growth, no cortical perforation or root resorption Aggressive - Pain, rapid growth, cortical perforation and root resorption
57
Radiographic features of Central giant Cell Granuloma
Unilocular to multilocular radiolucency Margins tend to be noncorticated +- Cortical perforation or expansion +- Root resorption
58
What is an Aneurysmal Bone Cyst
An intraosseous accumulation of variable-sized, blood-filled spaces surrounded by cellular fibrous tissue with giant cells
59
Demographics of Aneurysmal Bone Cysts
Most common in long bones or vertebrae 2% in jaws Children and young adults
60
Clinical features of Aneurysmal bone cyst
Rapid swelling, pain | Unilocular or multi-locular RL
61
Radiographic findings of Aneurysmal bone cyst
Radiolucent, unilocular but > multilocular Cortex often expanded and thinned or perforated Borders can be well defined or diffuse
62
Demographics of Idiopathic Osteosclerosis
Blacks, Chinese, Japanese No gender predilection 90% in Md, > 1st molar 80% contact tooth root
63
Clinical features of Idiopathic Osteosclerosis
Characteristically no pain or expansion Rarely root resorption Easily confused with condensing osteitis but tooth is VITAL
64
Radiographic findings of Idiopathic Osteosclerosis
Well defined radiopacity, may be asymmetric Typically without a radiolucent halo but blends 80% contact a tooth root Occasionally show root resorption Diagnosis can usually be made on clinical and radiographic features
65
What is Focal Osteoporotic Bone Marrow defect
An asymptomatic radiolucent lesion
66
Demographics of Focal Osteoporotic Bone Marrow defect
Middle aged females - theory: secondary to low grade anemia 70% in posterior mandible Often at site of previous extraction
67
Radiographic findings of Focal Osteoporotic Bone Marrow defect
radiolucency often with fine internal trabeculation
68
Diagnosis of Focal Osteoporotic Bone Marrow defect
Incisional biopsy may be necessary to establish diagnosis