Chapter 20: Bones, Joints, Soft Tissue Tumors Flashcards
(175 cards)
1
Q
What is the term for a developmental anomaly of bone
A
Dysostosis
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
3
Q
What is the term for groups of genes that encode for structural development during embryogenesis
A
Homeobox genes
4
Q
What is the most common congenital limb malformation
A
Syndactyly
5
Q
What is aphasia
A
Absent or incomplete development
6
Q
What is the definition of dysplasia
A
Mutations interfere with growth or homeostasis (dwarfism)
7
Q
Are supernumerary digits and/or abnormal fusion of bones examples of dysostosis or dysplasia
A
Dysostosis
8
Q
What type of collagen is mutated in osteogenesis imperfecta
A
Type 1 collagen
9
Q
Is osteogenesis imperfecta autosomal dominant or autosomal recessive
A
Autosomal dominant
10
Q
What type of osteogenesis imperfecta expects a normal lifespan
A
Type 1
11
Q
What type of osteogenesis imperfecta is lethal in utero
A
Type II
12
Q
What condition is the zebra stripe sign associated with
A
Osteogenesis imperfecta
13
Q
What is the most common form of dwarfism
A
Achondroplasia
14
Q
What condition is frontal bossing & midface hypoplasia associated with
A
Achondroplasia
15
Q
What mutated gene is associated with achondroplasia
What % are spontaneous
A
Mutated fibroblast growth factor receptor (FGFR3)
75% are spontaneous
16
Q
Shorter than which height is associated with dwarfism
A
4’10” (147cm)
17
Q
What 2 spinal abnormalities are associated with dwarfism
A
Bullet vertebrae
Spinal stenosis
18
Q
What hormone is the treatment for achondroplasia and at what age
A
Growth hormone (somatotropin) Age 1-6
19
Q
What form of dwarfism is rare, results in a stillbirth from perinatal respiratory failure
A
Thanatophoric dwarfism
20
Q
What type of dwarfism is associated with an extremely small thorax and short long bones
A
Thanatotropic dwarfism
21
Q
What are 4 additional causes of dwarfism
A
Turner syndrome
Hypothyroidism
Malnutrition
Osteogenesis imperfecta
22
Q
What is a group of rare genetic disorders decreases osteoclast-mediated bone resorption
A
Osteopetrosis
23
Q
Regarding osteopetrosis, what leads to cranial nerve palsies
A
Foraminal stenosis
24
Q
Regarding osteopetrosis, what leads to deranged hematopoiesis and what does it lead to;
A
Medullary cavity filling;
Recurrent infections,
Fatigue
Hepatosplenomegaly
25
What is the treatment for osteopetrosis (2)
Decrease calcium intake
| Stem cell replacement
26
What is a severe form of osteopenia
Osteoporosis
27
What is the diagnosis for osteoporosis
T-score 2.5 SD from normal (major fracture risk)
28
What type of osteoporosis is postmenopausal/senile
Primary generalized
29
What type of osteoporosis is neoplasia, immobilization; is the result of hyperparathyroidism, nutrient deficiencies, or drugs
Secondary generalized
30
What is the definition of senile osteoporosis
Age related, normal
31
At what age may senile osteoporosis begin
Mid-20s
32
How much bone mass is lost each year with senile osteoporosis
0.5% per year
33
What causes postmenopausal primary osteoporosis
Decrease in estrogens
34
What percentage of females experience postmenopausal osteoporosis
50%
35
What are possible supplements to treat osteoporosis
Calcium & Vitamin D
36
What are 6 risk factors for osteoporosis
```
Increase in age
Sedentary lifestyle
Family history
Disordered eating
Malnutrition
Malabsorption
Female
```
37
What are 2 consequences of osteoporosis
Vertebral compression fracture (thoracolumbar)
| Femoral neck fracture
38
What is an example of a vertebral compression fracture that decreases height and increases risk for pneumonia
Dowager's Hump
39
What % of bone mass must be lost to detect osteoporosis on X-ray
30-40%
40
What is klippel-feil syndrome
Abnormal fusion of any 2 cervical vertebrae
41
What 3 prevention tactics can be used for osteoporosis
Physical activity <30 yoa
Dietary calcium & vitamin D
Antiresorptive pharmacological agents
42
What is known as "brittle bone disease"
Osteogenesis imperfecta
43
Regional osteoclasts activity, excessive bone formation, sclerotic burnout phase are associated with which disease
Pages Disease
44
What is "osteitis deformans"
Pages disease of bone
45
What condition produces weak bone with a "shaggy" appearance
Pages Disease of Bone
46
How is Paget Disease of Bone (Osteitis deformans) diagnosed
Increased alkaline phosphatase in serum (byproduct of osteoblasts activity)
47
What type of antigen is idiopathic and associated with Paget Disease
Paramyxoviridae antigens
48
What % of idiopathic Paget Disease is asymptomatic and how is it discovered
80%
Incidental X-ray finding
49
What is the most common symptom of Paget Disease
Neck and back pain
50
What % of Paget disease is associated with a sarcoma and a very poor prognosis
1%
51
What conditions are the "ivory vertebra sign" associated with
Paget disease
Metastatic Cancer (prostate)
Lymphoma
52
What percentage of Paget Disease patients have multiple lesions
85%
53
What % of Paget Disease patients involve the axial skeleton and/or the femur
80%
54
At what age is Paget Disease most commonly diagnosed
Age 70
55
Who is more likely to get Paget Disease (males/females)
Males (2x)
56
What is the treatment for Paget Disease
Bisphosphonates (intended to slow lyric phase)
57
What are 3 ways Vitamin D deficiency may manifest
Dietary/UV deficiency
Malabsorption
Chronic renal disorders
58
What is the condition of vitamin D deficiency in children and is severe
Rickets
59
What is the condition of vitamin D deficiency in adults and is mild
Osteomalacia
60
TQ: what condition is associated with decreased osteoclasts activity
Osteopetrosis
61
What condition is associated with increased renal tubule resorption of Ca++
Hyperparathyroidism
62
What glands maintain serum Ca++
Parathyroid glands
63
What is the most common cause of primary hyperparathyroidism
An adenine
64
What is the secondary hyperparathyroidism the most common cause of
Nonmalignant hypercalcemia
65
What % of hyperparathyroidism is asymptomatic
>50%
66
Who does hyperparathyroidism most commonly affect
Post-menopausal females
67
What is the most common sign of hyperthyroidism
Kidney stones
68
What condition is "rugged-jersey" spine associated with
Hyperparathyroidism
69
What condition is "spiculated cortex" (hand) associated with
Hyperparathyroidism
70
What is the treatment for hyperparathyroidism
Water and physical activity
Avoid diuretics
71
What condition is osteitis fibrosis cystica associated with
Hyperparathyroidism
72
What kind of fracture maintains an intact overlying tissue
Closed
73
What type of fracture is the skin ruptured and accompanies the risk of infection
Compound (open)
74
What type of fracture is fragmented/splintered
Comminuted
75
What type of fracture is the distal segment misaligned
Displaced
76
What type of fracture is at the site of ANY disease
Pathological fracture
77
Where are stress fractures most common
Lower leg or foot
78
what are a few things that can delay healing of fractures
```
Non-union
Comminution (fragments must be resorbed)
Inadequate immobilization
Infection = inflammation
Nutritional deficiency
Advanced age
```
79
What is avascular necrosis another term for
Osteonecrosis
80
What are common locations for osteonecrosis
Subchondral bone (hip, knee, shoulder, wrist, ankle)
81
What is "creeping substitution" associated with
Osteonecrosis
82
What is the most common cause of osteonecrosis
Fracture
83
What condition at the joint is "osteochondritis. Dissecans" associated with
Osteonecrosis
84
What % of hip dislocations present with osteonecrosis
10%
85
What is the term for bone marrow inflammation
Osteomyelitis
86
T/F: the most common form of osteomyelitis is acute rather than chronic
True
87
What is the most common mode of infection of bone marrow (osteomyelitis)
Hematogenous (blood)
88
What are 2 categories of osteomyelitis
Pyogenic bacteria
| Mycobacterium tuberculosis
89
What is the most common form of pyogenic bacteria (osteomyelitis)
Staphylococcus aureus
90
How is pyogenic osteomyelitis diagnosed (2)
Radiography or biopsy
91
What are 3 signs of pyogenic osteomyelitis
Involucrum
Sequestrum
Draining sinus
92
What type of pyogenic myelitis surrounds infected bone
Involucrum
93
What type of pyogenic osteomyelitis presents with entrapped necrotic bone
Sequestrum
94
What type of pyogenic osteomyelitis presents with pus draining into surrounding soft tissues
Draining sinus
95
What type of granuloma is associated with tuberculous osteomyelitis
Caseous (cheese) granuloma
96
What % of TB cases progress to tuberculous osteomyelitis
3%
97
What is tuberculous osteomyelitis in the spine called
Pott disease
98
What type of congenital kyphosis is related to failed development embryologically (type 1 or type 2)
Type 1
99
What type of congenital kyphosis is related to failed segmentation embryologically (type 1 or type 2)
Type 2
100
T/F: bracing is the most common correction for congenital kyphosis
False: it does not work
101
Is posterior surgical fusion with congenital kyphosis easier earlier or later in life
Earlier
102
What is more common
Metastasis to bone
Primary bone tumors
Metastasis to bone
103
What is the most common symptom of a bone tumor
Bone pain gradually increasing
104
What are a few signs/symptoms of cancerous low back pain (LBP)
```
>50 yoa
History of cancer
Cachexia (wasting)
LBP unrelieved with rest
Pain >1 month
Failure to improve with conservative care >1 month
```
105
What is the most common primary bone cancer
Osteosarcoma
106
What are a few risks for bone tumors
Mutations (RB or TP53), irradiation, osteomyelitis
107
If bone tumors are early onset, are they more commonly benign or malignant
Benign (<40yoa)
108
Where is an osteosarcoma most commonly in someone 10-20 yoa
Knee
109
Where is an osteomyelitis most commonly in someone age 40-50
Facial bones/skull
110
What are the 3 main types of bone-forming tumors
Osteoma
Osteoblastoma
Osteosarcoma
111
What are characteristics of osteomas (3)
Slow growing
Superficial
Hard
112
T/F: osteomas do not obstruct sinuses
False: osteomas DO obstruct sinuses
113
About how big are osteoid osteomas
<2cm
114
What often gives patients with osteoid osteomas relief
Aspirin
115
What is the treatment for osteoblastomas
Excision, possible irradiation
116
Are osteosarcomas aggressive or slow growing
Very aggressive
117
What is the most common primary bone cancer
Osteosarcoma
118
Who does osteosarcoma most commonly affect
Adolescent males
119
TQ: What condition is "Codman's triangle" associated with
Osteosarcoma
120
What % of osteosarcomas have already metastasized to lungs upon diagnosis
10-20%
121
Retinoblastoma syndrome increases risk for osteosarcoma ________x
1000x
122
Which type of osteosarcoma is often fatal due to poor response to therapy
Typical primary osteosarcoma
Co-morbid secondary sarcoma
Co-morbid secondary sarcoma
123
What is another term for rotationplasty
Van-ness rotation
124
There are 2 types of cartilage-forming tumors, how do they appear
Hyaline
Myxoid
Hyaline: clear, glass-like
Myxoid: mucus-like
125
What are the 3 main types of cartilage-forming tumors
Osteochondroma
Chondroma
Chondrosarcoma
126
What type of cartilage is the benign, cartilage-capped outgrowth of an osteochondroma
Hyaline cartilage
127
Who is most likely to get an osteochondroma
Age
Gender
Males (3x)
| Age 10-30
128
What are the 2 forms of osteochondroma, which is familial, which is sporadic
Solitary: sporadic
| Multiple hereditary osteochondroma: familial
129
What is the most common location for an osteochondroma
Knee
130
What % of osteochondroma become cancerous (chondrosarcoma)
<1%
131
TQ: What is the term for the disease of multiple enchondromas
Ollier Disease
132
Where are solitary enchondromas of the hand most common
Proximal phalanges (40-50%)
133
What is an "o-ring" of an enchondroma
Ring of sclerosis
134
What are the most common symptoms of an enchondroma
Enchondromas are most commonly asymptomatic
135
What is the 2nd most common primary bone cancer
Chondrosarcoma
136
Who is most likely to be affected by a chondrosarcoma
Age
Gender
40-60 yoa
| Males (2x)
137
What is the most common location for a chondrosarcoma
Intracellular you
138
What is more common, low grade or high grade chondrosarcoma
Low grade: slow growing, small
139
What is the prognosis and survival rate for high grade chondrosarcoma
Poor prognosis: 40% survival
Usually metastasizes to lungs
140
Name 2 bone tumors with unique cells
Ewing Sarcoma
Giant-Cell Tumor of bone
141
What are well-defined radiolucent lesions with THIN sclerosis (2)
Fibrous cortical defect
Non-ossifying fibroma
142
What differentiates between fibrous cortical defect & nonossifying fibroma
>3 cm = nonossifying fibroma (NOF)
143
How are most fibrous cortical defects and nonossifying fibromas diagnosed
Incidentally: 50% of all children >2 yoa
144
What is the most common location of FCD and NOF
Metaphysis, near cortex
| Knee
145
What are the most common symptoms of FCD and NOF
Most commonly asymptomatic
146
What results from a spontaneous GNAS mutation
Fibrous Dysplasia (FD)
147
What is the term for fibrous dysplasia involving only a single bone
Monostotic
148
What is the term for fibrous dysplasia if multiple bones are involved
Polystotic
149
What is more common fibrous dysplasia
Monostotic
Polystotic
Monostotic (70%)
150
What is McCune-Albright Syndrome
Polyostotic fibrous dysplasia + cafe-au-lait spots & endocrinopathy
151
Who most commonly gets diagnosed with McCune-Albright Syndrome
Females
152
Is McCune-Albright syndrome more common unilaterally or bilaterally
Unilaterally
153
What are the 2 variants of the same malignant tumor in Ewing Sarcoma & Primitive/Neuroectodermal Tumor
t(11;22) or t(21;22)
154
What is the difference between an Ewing Sarcoma and a primitive/neuroectodermal tumor (PNET)
Ewing sarcoma = undifferentiated
PNET = neural differentiation
155
Which exhibits homer-wright pseudo rosettes
Ewing Sarcoma Or
PNET
PNET (primary/neuroectodermal Tumor)
156
What condition exhibits "onion-skinning" and rarely produces a "sunburst"
Ewing sarcoma
157
What is the location of an Ewing Sarcoma
Femur
158
What are risk factors (2) for Ewing sarcoma
Caucasian (9x)
| Male
159
What is the age range in which a Giant-Cell Tumor of Bone is likely to occur
20-40
160
What is the most common location for a Giant-Cell Tumor of Bone
Knee
161
How is a Giant-Cell Tumor of Bone diagnosed
Biopsy
162
T/F: Giant-Cell Tumors of Bone increase range of motion
False: decreases
163
What is the treatment for Giant-Cell Tumor of Bone
Excision / radiation
164
What condition exhibits "soap bubble" appearance
Giant-Cell Tumor of Bone
165
What is more common, primary bone cancer OR secondary metastasis to bone
Secondary metastasis to bone
166
What is the most common site of secondary metastasis to bone
Spine
167
What are the 3 mechanisms of secondary metastasis to bone
Direct extension (physical contact)
Hematogenous/lymphatic circulation
Intraspinal seeding
168
TQ: where are enchondromas (chondromas) most commonly located (2)
Hands and feet
169
Anti-cyclic ________ ______ are present in 70%+ of cases
Anti-cyclic citrullinated peptides
170
___________ factor is present in 80% of positive cases of rheumatoid arthritis
Rheumatoid factor
171
Rheumatoid Arthritis most commonly affects _______ joints
Small joints
172
__% of rheumatoid arthritis patients have Atlanto-axial instability
30%
173
What condition is Pannus associated with
Rheumatoid arthritis
174
What condition is the swan-neck deformity and ulnar deviation associated with
Pannus of rheumatoid arthritis
175
What age and gender is most likely to get rheumatoid arthritis
35-50
Females
