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Neville and Damm > Ch14 Bone Path (Part I) > Flashcards

Ch14 Bone Path (Part I) Flashcards

1
Q

Prevelance of Osteogenesis Imperfecta?

A

6 to 7 per 100,000

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2
Q

What % of cases of Osteogenesis Imperfecta are AD?

A

90%

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3
Q

In 90% of AD cases of OI, which two genes are mutated? What do they code for?

A

COL1A1 or COL1A2 they code for Type 1 collagen

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4
Q

Since THIS TYPE OF COLLAGEN is present in bone, dentin, sclerae, ligaments, and skin, OI can affect all of them

A

TYPE 1 COLLAGEN

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5
Q

Problems in production of Type 1 collagen in OI lead to low ______ strength, therefore making bone _____

A

LOW TENSILE STRENGTH…brittle

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6
Q

What is the most common form of Osteogenesis Imperfecta?

A

Osteogenesis Imperfecta Type I, its also the mildest

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7
Q

What is the MOST SEVERE form of Osteogenesis Imperfecta? What is the typical survival of this pt?

A

Osteogenesis Imperfecta Type II…likely die in utero or shortly after birth

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8
Q

What are the 3 clinical presentations of Osteogenesis Imperfecta?

A
  1. blue sclerae 2. hearing loss 3. joint hyperextensibility / contracture
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9
Q

What are the 4 radiographic hallmarks of Osteogenesis Imperfecta?

A

1.osteopenia 2. bowing of the long bones 3. multiple fractures 4.increased # of Wormian bones in the skull (also seen in CLEIDOCRANIAL DYSPLASIA)

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10
Q

The dental alterations (clinically and radiographically) in Osteogenesis Imperfecta are IDENTICAL to what other entity? Which 2 types of OI specifically?

A

Dentinogenesis Imperfecta.. Types III and IV OI

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11
Q

What three colors are associated with the dentition in OI or DI?

A

blue, brown, yellow translucence

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12
Q

Radiographs of OI (and therefore DI) teeth reveal?

A

premature pulpal obliteration

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13
Q

What do the tooth roots in OI / DI look like?

A

narrow or CORNCOB-shaped

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14
Q

Since OI and DI are separate entities, but have similar radiographic features for the teeth, what is the proper term for teeth to describe OI?

A

Opalescent teeth

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15
Q

OI patients have an increased prevalence of which malocclusion?

A

Class III (maxillary hypoplasia)

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16
Q

What is a medication threatment that can possibly reduce fractures, increase mobility in a child with OI?

A

IV Bisphosphonates

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17
Q

OI Types: Mild phenotype, minimal bone deformity, bone fractures, normal or near normal stature, blue sclerae, joint laxity, hearing loss, rarely opalescent teeth

A

Type I

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18
Q

OI Types: Type I mutated gene?

A

COL1A1 (null allele)

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19
Q

OI Types: Perinatal lethal, multiple fractures of ribs and long bones, respiratory distress, limb deformities, dark blue sclerae

A

Type II

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20
Q

OI Types: Type II mutated gene(s)?

A

COL1A1, COL1A2

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21
Q

OI Types: Severely deforming, very short stature, frequent fractures, wheelchair-dependent at an early age, triangular facies, coxa vara, “popcorn calcifications” of femoral head, blue-gray sclerae, often opalescent teeth, most patients die during childhood secondary to complications of kyphoscoliosis

A

Type III

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22
Q

OI Types: Type III mutated gene(s)?

A

COL1A1, COL1A2

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23
Q

OI Types: Mild to moderate bone fragility and deformity, white to gray sclerae, often opalescent teeth

A

Type IV

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24
Q

OI Types: Type IV mutated gene(s)?

A

COL1A1, COL1A2

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25
Q

What are two other names for Osteopetrosis?

A

Albers-Schonberg Disease, Marble bone disease

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26
Q

What is the cell to blame in osteopetrosis?

A

failure of osteoclast function or differentiation

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27
Q

What are the three disease subtypes in osteopetrosis?

A

1.AR infantile (malignant) type 2.AR intermediate type 3.AD adult (benign) type

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28
Q

This severe form usually is diagnosed at birth or in early
infancy. Typical findings include a diffusely sclerotic skeleton, bone marrow failure, frequent fractures, cranial nerve compression, and growth impairment.

A

Autosomal Recessive Infantile Osteopetrosis

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29
Q

What disease? The initial signs often are normocytic anemia with hepatosplenomegaly resulting from compensatory extramedullary hematopoiesis.

A

Autosomal Recessive Infantile Osteopetrosis

30
Q

What disease? Affected children often exhibit a
broad face, hypertelorism, snub nose, and frontal bossing. Failure of resorption and remodeling of the skull produces narrow skull foramina and cranial nerve compression, which may result in blindness, deafness, and facial paralysis.

A

Autosomal Recessive Infantile Osteopetrosis

31
Q

What disease? The bone is dense but prone to pathologic fracture. OSTEOMYELITIS of the jaws is a frequent complication of tooth extraction

A

Autosomal Recessive Infantile Osteopetrosis

32
Q

What disease? Radiographically, there is a widespread increase in skeletal density with defects in metaphyseal remodeling.

A

Autosomal Recessive Infantile Osteopetrosis

33
Q

What disease? On dental radiographs, tooth roots often are difficult to visualize because of the density of the surrounding bone. In addition, failure of tooth eruption is common.

A

Autosomal Recessive Infantile Osteopetrosis

34
Q

What disease? Affected patients often are asymptomatic at birth but exhibit fractures by the end of the first decade. Mild to moderate anemia and extramedullary hematopoiesis are common, but bone marrow failure is rare. Short stature, mandibular prognathism, unerupted teeth, and osteomyelitis also have been reported.

A

Autosomal Recessive Intermediate Osteopetrosis

35
Q

What disease? This most common type usually is discovered in adolescence or adulthood and exhibits less severe manifestations. Sclerosis mainly affects the axial skeleton, with relative sparing of the long bones.

A

Autosomal Dominant Adult Osteopetrosis

36
Q

What disease? Occasionally, the diagnosis is discovered initially on review of dental radiographs that reveal diffusely increased radiopacity of the medullary bone.

A

Autosomal Dominant Adult Osteopetrosis

37
Q

What are the three differentials for AD Adult Osteopetrosis?

A

1.AD OsteoSclerosis 2.SclerOsteosis 3.van Buchem disease

38
Q

What are the three histopathological features of AD Adult Osteopetrosis?

A
  1. Tortuous lamellar trabeculae replacing the cancellous

portion of the bone 2. Globular amorphous bone deposition in the marrow spaces 3. Osteophytic bone formation

39
Q

Histologically in AD Adult Osteopetrosis what characteristic osteoclast feature is absent?

A

Howship’s Lacunae are not visible

40
Q

What is the gene responsible for Cleidocranial Dysplasia? (2 names) Where is it found?

A

RUNX2 (CBFA1) on chromosome 6p21

41
Q

RUNX2 plays an important role in _________ via participation in odontoblast differentiation, enamel organ formation, and dental lamina proliferation.

A

odontogenesis

42
Q

What is the inheritance pattern for cleidocranial dysplasia? What is the proposed % of spontaneous mutations?

A

AD..40%

43
Q

What % of cleidocranial dysplasia pts have COMPLETELY ABSENT clavicles?

A

10%

44
Q

What condition?: On skull radiographs, the sutures and fontanels show delayed closure or may remain open throughout life.

A

cleidocranial dysplasia

45
Q

Oral & Maxillofacial features of Cleidocranial Dysplasia: Patients often have a narrow, high-arched palate, and there is an increased prevalence of ______.

A

cleft palate

46
Q

Oral & Maxillofacial features of Cleidocranial Dysplasia: Over-retained ________ and delay or complete failure of permanent tooth eruption

A

deciduous teeth

47
Q

Oral & Maxillofacial features of Cleidocranial Dysplasia: There may be abnormal ________ in the mandibular incisor area because of widening of the alveolar bone.

A

spacing

48
Q

Oral & Maxillofacial features of Cleidocranial Dysplasia: On dental radiographs, what is the MOST DRAMATIC finding?

A

numerous unerupted permanent and supernumerary teeth (up to 60), often exhibiting distorted crown and root shapes (+/- dentigerous cysts)

49
Q

Oral & Maxillofacial features of Cleidocranial Dysplasia: Generalized hypoplasia of the paranasal sinuses may
predispose the patient to ________.

A

recurrent sinus infections

50
Q

The __________ is an area of hematopoietic marrow that is sufficient in size to produce a radiolucency.

A

focal osteoporotic marrow defect

51
Q

Focal osteoporotic marrow defect: gender and location

A

75% female, 70% posterior mandible most often in edentulous areas

52
Q

When explaining a focal osteoporotic marrow defect to a patient, what will you tell them if they ask how it happens?

A

3 theories: 1 Aberrant bone regeneration after tooth extraction 2. Persistence of fetal marrow 3. Marrow hyperplasia in response to increased demand for
erythrocytes

53
Q

Idiopathic osteosclerosis: gender? race? age? location?

A

no sex predilection, blacks/asians, 1st-2nd decades ..90% mandible (1st molar area)

54
Q

WHAT SHOULD BE EXCLUDED IF MULTIPLE IDIOPATHIC OSTEOSCLEROSIS LESIONS ARE FOUND?

A

Gardner Syndrome can present with multiple osteomas

55
Q

Well shit, idiopathic osteosclerosis CAN have associated root ______ and tooth ________

A

resorption and movement

56
Q

Name that bone pathology: The destroyed bone is replaced by a vascular proliferation and, ultimately, dense fibrous tissue without bone regeneration.

A

Massive osteolysis

57
Q

What are the 5 goddam names for massive osteolysis?

A
  1. GORHAM DISEASE 2. GORHAM-STOUT SYNDROME 3. VANISHING BONE DISEASE 4.PHANTOM BONE DISEASE 5.IDIOPATHIC OSTEOLYSIS
58
Q

What are the 5 mechanisms proposed for massive osteolysis?

A

1.Trauma-induced proliferation of vascular granulation
tissue 2.Trauma-induced activation of a previously silent
hamartoma 3.Increased osteoclastic activity mediated by interleukin-6 (IL-6) 4.Lymphangiogenesis mediated by vascular endothelial growth factor (VEGF) and platelet derived growth factor (PDGF) 5.Agenesis or dysfunction of thyroid C cells

59
Q

massive osteolysis: age, location?

A

BROAD range, but predominantly children and young adults…all over body, but most gnathic lesions present in the mandible

60
Q

Name that bone pathology: Loss of lamina dura and thinning of cortical plates often precede development of obvious radiolucency…it can also mimic PERIODONTITIS or PERIAPICAL inflammatory disease

A

Massive osteolysis

61
Q

What stain is typically postive in massive osteolysis?

A

D2-40 highlighting the lymphatic endothelium

62
Q

What is the most hopeful treatment available for massive osteolysis?

A

some investigators have reported disease stabilization with administration of bisphosphonates and/ or alpha-2b interferon

63
Q

Autosomal recessive types of osteogenesis imperfecta are caused by defects in what ? (4)

A

Chaperone defects
Mineralization defects
3-hydroxylation defects (collagen cross-linking)
C-propetide cleavage

64
Q

Serologies for osteogenesis imperfecta

A

Serologies all normal usually: calcium, alk phos(can be slightly elevated), vit D, phosphorus

65
Q

Patients diagnosed with osteogenesis imperfecta have an increased risk of _____ (3)

A

Cardiac malformations
Bleeding disorders
Hyperthermia

66
Q

Prevalence of osteopetrosis overall

A

1:100,000-500,000

67
Q

Most common mutations in osteopetrosis

A

RANK and/or RANKL

30% the mutation is unknown

68
Q

Defects in the ____ channel are implicated in AR infantile osteopetrosis. Defects in the _____ ____ subunit are also implicated.

A

chloride ion channel

proton pump subunit

69
Q

Prevalence of cleidocranial dysplasia

A

1:1,000,000

70
Q

Short lower face height aka ___ _____ ____ is seen in patients with cleidocranial dysplasia

A

acute gonial angle

71
Q

T/F: There is an association between focal osteoporotic marrow defect and hematologic malignancies or anemias

A

False- no association

72
Q

Prevalence of idiopathic osteosclerosis

A

5%

Neville and Damm (72 decks)

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