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Systems Pathology > Chapter 20: Bones, Joints, Soft Tissue Tumors > Flashcards

Chapter 20: Bones, Joints, Soft Tissue Tumors Flashcards

1
Q

What is the term for a developmental anomaly of bone

A

Dysostosis

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2
Q

What are 4 examples of dysostosis

A

Defective ossification of fetal cartilage
Abnormal mesenchymal migration
Sporadic (isolated) part of syndrome
Homeobox gene alterations

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3
Q

What is the term for groups of genes that encode for structural development during embryogenesis

A

Homeobox genes

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4
Q

What is the most common congenital limb malformation

A

Syndactyly

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5
Q

What is aphasia

A

Absent or incomplete development

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6
Q

What is the definition of dysplasia

A

Mutations interfere with growth or homeostasis (dwarfism)

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7
Q

Are supernumerary digits and/or abnormal fusion of bones examples of dysostosis or dysplasia

A

Dysostosis

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8
Q

What type of collagen is mutated in osteogenesis imperfecta

A

Type 1 collagen

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9
Q

Is osteogenesis imperfecta autosomal dominant or autosomal recessive

A

Autosomal dominant

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10
Q

What type of osteogenesis imperfecta expects a normal lifespan

A

Type 1

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11
Q

What type of osteogenesis imperfecta is lethal in utero

A

Type II

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12
Q

What condition is the zebra stripe sign associated with

A

Osteogenesis imperfecta

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13
Q

What is the most common form of dwarfism

A

Achondroplasia

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14
Q

What condition is frontal bossing & midface hypoplasia associated with

A

Achondroplasia

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15
Q

What mutated gene is associated with achondroplasia

What % are spontaneous

A

Mutated fibroblast growth factor receptor (FGFR3)

75% are spontaneous

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16
Q

Shorter than which height is associated with dwarfism

A

4’10” (147cm)

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17
Q

What 2 spinal abnormalities are associated with dwarfism

A

Bullet vertebrae

Spinal stenosis

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18
Q

What hormone is the treatment for achondroplasia and at what age

A 
Growth hormone (somatotropin)
Age 1-6
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19
Q

What form of dwarfism is rare, results in a stillbirth from perinatal respiratory failure

A

Thanatophoric dwarfism

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20
Q

What type of dwarfism is associated with an extremely small thorax and short long bones

A

Thanatotropic dwarfism

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21
Q

What are 4 additional causes of dwarfism

A

Turner syndrome
Hypothyroidism
Malnutrition
Osteogenesis imperfecta

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22
Q

What is a group of rare genetic disorders decreases osteoclast-mediated bone resorption

A

Osteopetrosis

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23
Q

Regarding osteopetrosis, what leads to cranial nerve palsies

A

Foraminal stenosis

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24
Q

Regarding osteopetrosis, what leads to deranged hematopoiesis and what does it lead to;

A

Medullary cavity filling;
Recurrent infections,
Fatigue
Hepatosplenomegaly

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25
Q

What is the treatment for osteopetrosis (2)

A

Decrease calcium intake

Stem cell replacement

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26
Q

What is a severe form of osteopenia

A

Osteoporosis

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27
Q

What is the diagnosis for osteoporosis

A

T-score 2.5 SD from normal (major fracture risk)

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28
Q

What type of osteoporosis is postmenopausal/senile

A

Primary generalized

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29
Q

What type of osteoporosis is neoplasia, immobilization; is the result of hyperparathyroidism, nutrient deficiencies, or drugs

A

Secondary generalized

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30
Q

What is the definition of senile osteoporosis

A

Age related, normal

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31
Q

At what age may senile osteoporosis begin

A

Mid-20s

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32
Q

How much bone mass is lost each year with senile osteoporosis

A

0.5% per year

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33
Q

What causes postmenopausal primary osteoporosis

A

Decrease in estrogens

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34
Q

What percentage of females experience postmenopausal osteoporosis

A

50%

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35
Q

What are possible supplements to treat osteoporosis

A

Calcium & Vitamin D

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36
Q

What are 6 risk factors for osteoporosis

A 
Increase in age
Sedentary lifestyle
Family history
Disordered eating
Malnutrition
Malabsorption
Female
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37
Q

What are 2 consequences of osteoporosis

A

Vertebral compression fracture (thoracolumbar)

Femoral neck fracture

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38
Q

What is an example of a vertebral compression fracture that decreases height and increases risk for pneumonia

A

Dowager’s Hump

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39
Q

What % of bone mass must be lost to detect osteoporosis on X-ray

A

30-40%

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40
Q

What is klippel-feil syndrome

A

Abnormal fusion of any 2 cervical vertebrae

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41
Q

What 3 prevention tactics can be used for osteoporosis

A

Physical activity <30 yoa
Dietary calcium & vitamin D
Antiresorptive pharmacological agents

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42
Q

What is known as “brittle bone disease”

A

Osteogenesis imperfecta

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43
Q

Regional osteoclasts activity, excessive bone formation, sclerotic burnout phase are associated with which disease

A

Pages Disease

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44
Q

What is “osteitis deformans”

A

Pages disease of bone

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45
Q

What condition produces weak bone with a “shaggy” appearance

A

Pages Disease of Bone

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46
Q

How is Paget Disease of Bone (Osteitis deformans) diagnosed

A

Increased alkaline phosphatase in serum (byproduct of osteoblasts activity)

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47
Q

What type of antigen is idiopathic and associated with Paget Disease

A

Paramyxoviridae antigens

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48
Q

What % of idiopathic Paget Disease is asymptomatic and how is it discovered

A

80%

Incidental X-ray finding

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49
Q

What is the most common symptom of Paget Disease

A

Neck and back pain

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50
Q

What % of Paget disease is associated with a sarcoma and a very poor prognosis

A

1%

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51
Q

What conditions are the “ivory vertebra sign” associated with

A

Paget disease
Metastatic Cancer (prostate)
Lymphoma

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52
Q

What percentage of Paget Disease patients have multiple lesions

A

85%

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53
Q

What % of Paget Disease patients involve the axial skeleton and/or the femur

A

80%

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54
Q

At what age is Paget Disease most commonly diagnosed

A

Age 70

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55
Q

Who is more likely to get Paget Disease (males/females)

A

Males (2x)

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56
Q

What is the treatment for Paget Disease

A

Bisphosphonates (intended to slow lyric phase)

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57
Q

What are 3 ways Vitamin D deficiency may manifest

A

Dietary/UV deficiency
Malabsorption
Chronic renal disorders

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58
Q

What is the condition of vitamin D deficiency in children and is severe

A

Rickets

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59
Q

What is the condition of vitamin D deficiency in adults and is mild

A

Osteomalacia

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60
Q

TQ: what condition is associated with decreased osteoclasts activity

A

Osteopetrosis

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61
Q

What condition is associated with increased renal tubule resorption of Ca++

A

Hyperparathyroidism

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62
Q

What glands maintain serum Ca++

A

Parathyroid glands

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63
Q

What is the most common cause of primary hyperparathyroidism

A

An adenine

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64
Q

What is the secondary hyperparathyroidism the most common cause of

A

Nonmalignant hypercalcemia

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65
Q

What % of hyperparathyroidism is asymptomatic

A

> 50%

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66
Q

Who does hyperparathyroidism most commonly affect

A

Post-menopausal females

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67
Q

What is the most common sign of hyperthyroidism

A

Kidney stones

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68
Q

What condition is “rugged-jersey” spine associated with

A

Hyperparathyroidism

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69
Q

What condition is “spiculated cortex” (hand) associated with

A

Hyperparathyroidism

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70
Q

What is the treatment for hyperparathyroidism

A

Water and physical activity

Avoid diuretics

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71
Q

What condition is osteitis fibrosis cystica associated with

A

Hyperparathyroidism

72
Q

What kind of fracture maintains an intact overlying tissue

A

Closed

73
Q

What type of fracture is the skin ruptured and accompanies the risk of infection

A

Compound (open)

74
Q

What type of fracture is fragmented/splintered

A

Comminuted

75
Q

What type of fracture is the distal segment misaligned

A

Displaced

76
Q

What type of fracture is at the site of ANY disease

A

Pathological fracture

77
Q

Where are stress fractures most common

A

Lower leg or foot

78
Q

what are a few things that can delay healing of fractures

A 
Non-union
Comminution (fragments must be resorbed)
Inadequate immobilization
Infection = inflammation
Nutritional deficiency
Advanced age
79
Q

What is avascular necrosis another term for

A

Osteonecrosis

80
Q

What are common locations for osteonecrosis

A

Subchondral bone (hip, knee, shoulder, wrist, ankle)

81
Q

What is “creeping substitution” associated with

A

Osteonecrosis

82
Q

What is the most common cause of osteonecrosis

A

Fracture

83
Q

What condition at the joint is “osteochondritis. Dissecans” associated with

A

Osteonecrosis

84
Q

What % of hip dislocations present with osteonecrosis

A

10%

85
Q

What is the term for bone marrow inflammation

A

Osteomyelitis

86
Q

T/F: the most common form of osteomyelitis is acute rather than chronic

A

True

87
Q

What is the most common mode of infection of bone marrow (osteomyelitis)

A

Hematogenous (blood)

88
Q

What are 2 categories of osteomyelitis

A

Pyogenic bacteria

Mycobacterium tuberculosis

89
Q

What is the most common form of pyogenic bacteria (osteomyelitis)

A

Staphylococcus aureus

90
Q

How is pyogenic osteomyelitis diagnosed (2)

A

Radiography or biopsy

91
Q

What are 3 signs of pyogenic osteomyelitis

A

Involucrum
Sequestrum
Draining sinus

92
Q

What type of pyogenic myelitis surrounds infected bone

A

Involucrum

93
Q

What type of pyogenic osteomyelitis presents with entrapped necrotic bone

A

Sequestrum

94
Q

What type of pyogenic osteomyelitis presents with pus draining into surrounding soft tissues

A

Draining sinus

95
Q

What type of granuloma is associated with tuberculous osteomyelitis

A

Caseous (cheese) granuloma

96
Q

What % of TB cases progress to tuberculous osteomyelitis

A

3%

97
Q

What is tuberculous osteomyelitis in the spine called

A

Pott disease

98
Q

What type of congenital kyphosis is related to failed development embryologically (type 1 or type 2)

A

Type 1

99
Q

What type of congenital kyphosis is related to failed segmentation embryologically (type 1 or type 2)

A

Type 2

100
Q

T/F: bracing is the most common correction for congenital kyphosis

A

False: it does not work

101
Q

Is posterior surgical fusion with congenital kyphosis easier earlier or later in life

A

Earlier

102
Q

What is more common

Metastasis to bone

Primary bone tumors

A

Metastasis to bone

103
Q

What is the most common symptom of a bone tumor

A

Bone pain gradually increasing

104
Q

What are a few signs/symptoms of cancerous low back pain (LBP)

A 
>50 yoa
History of cancer
Cachexia (wasting)
LBP unrelieved with rest
Pain >1 month
Failure to improve with conservative care >1 month
105
Q

What is the most common primary bone cancer

A

Osteosarcoma

106
Q

What are a few risks for bone tumors

A

Mutations (RB or TP53), irradiation, osteomyelitis

107
Q

If bone tumors are early onset, are they more commonly benign or malignant

A

Benign (<40yoa)

108
Q

Where is an osteosarcoma most commonly in someone 10-20 yoa

A

Knee

109
Q

Where is an osteomyelitis most commonly in someone age 40-50

A

Facial bones/skull

110
Q

What are the 3 main types of bone-forming tumors

A

Osteoma
Osteoblastoma
Osteosarcoma

111
Q

What are characteristics of osteomas (3)

A

Slow growing
Superficial
Hard

112
Q

T/F: osteomas do not obstruct sinuses

A

False: osteomas DO obstruct sinuses

113
Q

About how big are osteoid osteomas

A

<2cm

114
Q

What often gives patients with osteoid osteomas relief

A

Aspirin

115
Q

What is the treatment for osteoblastomas

A

Excision, possible irradiation

116
Q

Are osteosarcomas aggressive or slow growing

A

Very aggressive

117
Q

What is the most common primary bone cancer

A

Osteosarcoma

118
Q

Who does osteosarcoma most commonly affect

A

Adolescent males

119
Q

TQ: What condition is “Codman’s triangle” associated with

A

Osteosarcoma

120
Q

What % of osteosarcomas have already metastasized to lungs upon diagnosis

A

10-20%

121
Q

Retinoblastoma syndrome increases risk for osteosarcoma ________x

A

1000x

122
Q

Which type of osteosarcoma is often fatal due to poor response to therapy

Typical primary osteosarcoma

Co-morbid secondary sarcoma

A

Co-morbid secondary sarcoma

123
Q

What is another term for rotationplasty

A

Van-ness rotation

124
Q

There are 2 types of cartilage-forming tumors, how do they appear

Hyaline
Myxoid

A

Hyaline: clear, glass-like
Myxoid: mucus-like

125
Q

What are the 3 main types of cartilage-forming tumors

A

Osteochondroma
Chondroma
Chondrosarcoma

126
Q

What type of cartilage is the benign, cartilage-capped outgrowth of an osteochondroma

A

Hyaline cartilage

127
Q

Who is most likely to get an osteochondroma

Age
Gender

A

Males (3x)

Age 10-30

128
Q

What are the 2 forms of osteochondroma, which is familial, which is sporadic

A

Solitary: sporadic

Multiple hereditary osteochondroma: familial

129
Q

What is the most common location for an osteochondroma

A

Knee

130
Q

What % of osteochondroma become cancerous (chondrosarcoma)

A

<1%

131
Q

TQ: What is the term for the disease of multiple enchondromas

A

Ollier Disease

132
Q

Where are solitary enchondromas of the hand most common

A

Proximal phalanges (40-50%)

133
Q

What is an “o-ring” of an enchondroma

A

Ring of sclerosis

134
Q

What are the most common symptoms of an enchondroma

A

Enchondromas are most commonly asymptomatic

135
Q

What is the 2nd most common primary bone cancer

A

Chondrosarcoma

136
Q

Who is most likely to be affected by a chondrosarcoma

Age
Gender

A

40-60 yoa

Males (2x)

137
Q

What is the most common location for a chondrosarcoma

A

Intracellular you

138
Q

What is more common, low grade or high grade chondrosarcoma

A

Low grade: slow growing, small

139
Q

What is the prognosis and survival rate for high grade chondrosarcoma

A

Poor prognosis: 40% survival

Usually metastasizes to lungs

140
Q

Name 2 bone tumors with unique cells

A

Ewing Sarcoma

Giant-Cell Tumor of bone

141
Q

What are well-defined radiolucent lesions with THIN sclerosis (2)

A

Fibrous cortical defect

Non-ossifying fibroma

142
Q

What differentiates between fibrous cortical defect & nonossifying fibroma

A

> 3 cm = nonossifying fibroma (NOF)

143
Q

How are most fibrous cortical defects and nonossifying fibromas diagnosed

A

Incidentally: 50% of all children >2 yoa

144
Q

What is the most common location of FCD and NOF

A

Metaphysis, near cortex

Knee

145
Q

What are the most common symptoms of FCD and NOF

A

Most commonly asymptomatic

146
Q

What results from a spontaneous GNAS mutation

A

Fibrous Dysplasia (FD)

147
Q

What is the term for fibrous dysplasia involving only a single bone

A

Monostotic

148
Q

What is the term for fibrous dysplasia if multiple bones are involved

A

Polystotic

149
Q

What is more common fibrous dysplasia

Monostotic

Polystotic

A

Monostotic (70%)

150
Q

What is McCune-Albright Syndrome

A

Polyostotic fibrous dysplasia + cafe-au-lait spots & endocrinopathy

151
Q

Who most commonly gets diagnosed with McCune-Albright Syndrome

A

Females

152
Q

Is McCune-Albright syndrome more common unilaterally or bilaterally

A

Unilaterally

153
Q

What are the 2 variants of the same malignant tumor in Ewing Sarcoma & Primitive/Neuroectodermal Tumor

A

t(11;22) or t(21;22)

154
Q

What is the difference between an Ewing Sarcoma and a primitive/neuroectodermal tumor (PNET)

A

Ewing sarcoma = undifferentiated

PNET = neural differentiation

155
Q

Which exhibits homer-wright pseudo rosettes

Ewing Sarcoma Or
PNET

A

PNET (primary/neuroectodermal Tumor)

156
Q

What condition exhibits “onion-skinning” and rarely produces a “sunburst”

A

Ewing sarcoma

157
Q

What is the location of an Ewing Sarcoma

A

Femur

158
Q

What are risk factors (2) for Ewing sarcoma

A

Caucasian (9x)

Male

159
Q

What is the age range in which a Giant-Cell Tumor of Bone is likely to occur

A

20-40

160
Q

What is the most common location for a Giant-Cell Tumor of Bone

A

Knee

161
Q

How is a Giant-Cell Tumor of Bone diagnosed

A

Biopsy

162
Q

T/F: Giant-Cell Tumors of Bone increase range of motion

A

False: decreases

163
Q

What is the treatment for Giant-Cell Tumor of Bone

A

Excision / radiation

164
Q

What condition exhibits “soap bubble” appearance

A

Giant-Cell Tumor of Bone

165
Q

What is more common, primary bone cancer OR secondary metastasis to bone

A

Secondary metastasis to bone

166
Q

What is the most common site of secondary metastasis to bone

A

Spine

167
Q

What are the 3 mechanisms of secondary metastasis to bone

A

Direct extension (physical contact)
Hematogenous/lymphatic circulation
Intraspinal seeding

168
Q

TQ: where are enchondromas (chondromas) most commonly located (2)

A

Hands and feet

169
Q

Anti-cyclic ________ ______ are present in 70%+ of cases

A

Anti-cyclic citrullinated peptides

170
Q

___________ factor is present in 80% of positive cases of rheumatoid arthritis

A

Rheumatoid factor

171
Q

Rheumatoid Arthritis most commonly affects _______ joints

A

Small joints

172
Q

__% of rheumatoid arthritis patients have Atlanto-axial instability

A

30%

173
Q

What condition is Pannus associated with

A

Rheumatoid arthritis

174
Q

What condition is the swan-neck deformity and ulnar deviation associated with

A

Pannus of rheumatoid arthritis

175
Q

What age and gender is most likely to get rheumatoid arthritis

A

35-50

Females

Systems Pathology (3 decks)

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