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DBD Flashcards

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1
Q

______ ______ is one of the most common heritable bone diseases

A

Osteogenesis Imperfecta

“brittle bone disease”

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2
Q

Osteogenesis imperfecta is characterized by a mutation in the ______ gene:

  • Abnormal _____
  • _______
A

collagen gene

  • Abnormal mineralization
  • Osteopenia (low bone density)
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3
Q

What is the heritable variation of osteogenesis imperfecta (AD vs AR)

A

Autosomal dominant: 90%

Autosomal recessive: 10%

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4
Q

Clinical (non-dental) findings of osteogenesis imperfecta:

A
  • Blue sclera
  • Hearing loss
  • Craniofacial alterations (CL III occl.; triangular face)
  • Bowing deformity of bones
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5
Q

Clincal dental findings of osteogenesis imperfecta:

A

Identical to dentogenesis imperfecta:

  • blue/yellow/brown translucensy (“opalescent”)
  • severe attrition (loss of VDO)
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6
Q

Radiographic findings of osteogenesis imperfecta:

A
  • “shell teeth”
  • pulpal obliteration
  • roots narrow/corn cob shaped
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7
Q

Tx of osteogenesis imperfecta:

A
  • Classically: physiotherapy, rehab, and orthopedic surgery
  • Minimize factors that cause fractures
  • IV bisphosphonates to kids w/ mod-severe disease
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8
Q

Prognosis of osteogenesis imperfecta:

A

Variable depending on type/gene expression

Normal - death at birth

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9
Q

_____ is characterized by a lack of osteoclastic activity (continued bone formation and ossification)

A

Osteopetrosis

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10
Q

Compare AD osteopetrosis vs AR osteopetrosis

A

AD: less severe

AR: severe

  • blindness
  • deafness
  • fractures
  • osteomyelitis (infection/inflammation of marrow)
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11
Q

In osteopetrosis, marrow spaces are filled by ___ ___ resulting in loss of _____ ____ which results in _____

A

In osteopetrosis, marrow spaces are filled by dense bone resulting in loss of hematopoietic precursors which results in pancytopenia (deficiency of all blood cell types)

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12
Q

Radiographic presentation of osteopetrosis:

A
  • Diffuse density of skeleton
  • tooth roots hard to visualize (dense bone surrounds them)
  • Failure of eruption
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13
Q

Tx of osteopetrosis:

A
  • Supportive: transfusion and AB when necessary
  • Marrow transplant = limited success
  • Alternative: interferon w/ calcitriol and restrition of Ca2+ intake, corticosteroids, and EPO
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14
Q

Prognosis of osteopetrosis:

A

AD: long term survival possible

AS: poor (life expectancy <20)

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15
Q

_____ _____ is an AD disorder that mainly affects the skull, jaws, and clavicles

A

Cleidocranial dysplasia

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16
Q

Clinical presentation of cleidocranial dysplasia

A
  • Prominent forehead and hypoplastic face

- Primary dentition retained (permanent present but un-erupted)

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17
Q

Tx and Prognosis of cleidocranial dysplasia

A

Tx:

  • Surgery: correct skeletal relations and remove supernumerary teeth
  • Ortho: correct tooth relations

Prognosis: Good (essentially normal lifespan)

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18
Q

Osteoporotic bone marrow defect presentation and epidemiology:

A
  • Asymptomatic: incidental finding
  • Body of mandible at an old extraction site
  • Middle aged females
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19
Q

Osteoporotic bone marrow defect histopathology:

A
  • Fatty and hematopoietic marrow seen

- May resemble metastatic disease (BIOPSY!)

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20
Q

Osteoporotic bone marrow defect radiographic findings:

A

PANO: radiolucent and circumscribed

PA: ill-defined borders and fine central trabeculations

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21
Q

Idiopathic osteosclerosis is an ______ (incidental finding), _____ lesion with no expasion.

It is also known as ____ ____ ___ and _____

A

Idiopathic osteosclerosis is an asymptomatic (incidental finding), radiopaque lesion with no expasion.

It is also known as “dense bone island” and “enostosis”

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22
Q

Idiopathic osteosclerosis is most commonly found in the _____ region and consists of _____ ____ ____

A

premolar region

dense viable bone

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23
Q

What three lesions is idiopathic osteosclerosis often confused with?

A

Condensing osteitis

Hypercementosis

Cementoblastoma

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24
Q

_____ is a painless, bilateral expansion of the jaw; it may also involve the ____ ___ and cause displacement of teeth

Study These Flashcards
A

Cherubism

orbital wall

25
Cherubism is _____ ____ or a ___ ___ mutation; it is detected in ______
Autosmal dominant or de novo mutation childhood
26
Radiographic presention of cherubism:
Bilateral, multilocular radiolucencies of posterior mandible
27
Histologic presentation of cherubism:
- Edematous, cellular fibrous CT w/ hemorrhagic background - Sparse, benign-appearing multinucleated giant cells - Perivascular hyalinization (sometimes)
28
Tx of cherubism:
NO optimal Tx - Surgery known to accelerate growth of some lesions - Some cases involute during puberty
29
_____ ____ ___ is an idiopathic (possibly trauma induced) lesion that presents in the 1st and 2nd decade with a ____ predilection
Simple bone cyst male aka "traumatic bone cyst"
30
Simple bone cyst clinical and radiographic presentation:
- Posterior mandible (reported in all bones) - Well-circumscribed radiolucency with scalloping between roots - Empty cavity w/in bone with no epithelial lining (not a true cyst)
31
Tx of simple bone cyst:
Enter lesion and induce bleeding | -hemorrhage organizes and heals lesion
32
_____ ____ is the abnormal resorption-deposition of bone resulting in thickened and weakened bone
Osteitis deformans aka "Paget disease of bone"
33
Osteitis deformans presents in: ___ in white ____ (2:1) Jaws involved in ___ of cases (__ > __)
40+ white males (2:1) Jaws 17% of cases (Mx > Mn)
34
Clinical presentation of osteitis deformans:
- Elevated serum alkaline phosphatase - Bone pain - Simian stance (monkey like) with femur involvement
35
Histologic presentation of osteitis deformans:
- Irregular trabeculae w/ resting and reversal lines ("mosaic pattern") - Rimmed by osteoblasts and osteoclasts - Marrow replaced by vascular fibrous CT
36
Tx of osteitis deformans:
Asymptomatic: no tx -monitor for giant cell tumor of bone and osteosarcoma Symptomatic: bisphosphonates
37
Dental complications of osteitis deformans:
- Difficult ext. (hypercementosis/ankylosis) - Extensive hemorrhage if surgery during vascular lytic phase - Poor wound healing = susceptible to osteomyelitis during avascular sclerotic phase - Require new dentures periodically due to progressive alveolar enlargement - Unfavorable osseointigration of implants (esp. if taking bisphosphonates)
38
Radiographic presentation of osteitis deformans:
- "cotton-wool" appearance | - Extensive hypercementosis of teeth
39
______ _____ is a developmental tumor-like lesion caused by a mutation of tumor suppressor gene GNAS1
Fibrous dysplasia
40
Fibrous dysplasia presents in the ___ or ___ decade as a _____, _____ swelling that is slow growing
1st or 2nd decade painless, unilateral swelling
41
How often is fibrous dysplasia monostotic? What jaw does it affect more commonly?
75-80% monostotic Mx > Mn = facial deformity
42
Radiographic presentation of fibrous dysplasia:
- "ground glass" pattern - poorly define, blended margins - sinus obliteration if Mx involved
43
Histologic presentation of fibrous dysplasia:
- "Chinese characters:" irregular trabeculae of immature (woven) bone - no capsule: abnormal bone fuses to adjacent normal bone - cellular intertrabecular CT
44
Tx of fibrous dysplasia
- small lesions: no tx or en bloc resection - cosmetic/functional deformity may require surgical reduction - disease may stabilize w/ maturation - mesenchymal malignancy transformation rare; radiation to lesion is a risk factor
45
What is the recurrence of treated fibrous dysplasia lesions?
25-50% (esp. in younger pts)
46
What is the presentation of Jaffe type polyostotic fibrous dysplasia?
- 2+ bones affected | - cafe-au-lait spots with jagged borders
47
What is the presentation of Mccune-Albright type polyostotic fibrous dysplasia?
- 2+ bones affected - cafe-au-lait pigmentation - endocrine disturbances (causes early puberty)
48
From what cells does cemento-osseous dysplasia originate?
Periodontal ligament fibroblasts (benign, possibly reactive process)
49
What population does cemento-osseous dysplasia generally affect? Do the teeth test vital with this lesion?
Females (AA > East Asian > Whate) Yes, the teeth test vital
50
What is the least severe cemento-osseous dysplasia? How is it dx, tx, prognosis?
Periapical cemento-osseous dysplasia (mild) Dx: clinically and radiographs Tx: none Prognosis: excellent
51
What is the clinical presentation of focal cemento-osseous dysplasia (moderate)?
Swelling/discomfort in the body of the mandible
52
What is the radiographic presentation of focal cemento-osseous dysplasia (moderate)?
- Unilocular radiolucency (may have central radiopacity) | - Poorly defined; multiple small, gritty fragments
53
What is the histologic presentation of focal cemento-osseous dysplasia (moderate)?
- CT w/ embedded mineralized tissue | - Ginger-root shape
54
What is the tx/prognosis of focal cemento osseous dysplasia (moderate)?
Tx: biopsy --> tx most likely unnec. Prognosis: good
55
Florid cemento-osseous dysplasia is a _____ lesion that is _____ until its ulcerates resulting in ______
hypovascular asymptomatic sequestration
56
What is the radiographic presentation of florid cemento-osseous dysplasia (severe)?
"cotton-wool" radiopacities in 2+ quadrants
57
What are the complications of florid cemento-osseous dysplasia (severe)?
Prone to necrosis and secondary infection Biopsy unnec.; surgical procedures should be avoided
58
What is the tx/prognosis of florid cemento-osseous dysplasia (serious)?
Tx: - Asympt.: Recall/Prophy/OHI - Sympt: Debriedment and AB Prognosis: good -2nd infection may result
59
What are the differential diagnoses of cemento-osseous dysplasia?
- Hypercementosis: radiodensity within PDL - Idiopathic osteosclerosis: not nec. at apex; no radiolucent periphery - Benign cementoblastoma: root resorption and fusion with radiopaque mass

developmental bone disorders (1 decks)

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