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Pathology > Chapter 26 - Bones, Joints, and Soft Tissue Tumors (just pathoma) > Flashcards

Chapter 26 - Bones, Joints, and Soft Tissue Tumors (just pathoma) Flashcards

1
Q

achondroplasia is an impairment of what?

A

cartilage proliferation in growth plate

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2
Q

what is the mutation in achondroplasia? is it AD or AR?

A

activating mutation in fibroblast growth factor receptor 3 (FGFR3) - overexpression inhibits growth; AD

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3
Q

mutations in achondroplasia occur sporadic/genetic? what factor is this associated with?

A

sporadic mutations associated with increased paternal age

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4
Q

clinical features of achondroplasia?

A

short extremities with normal-sized and chest (no problem with intramembranous bone formation); its due to poor endochondral bon formation

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5
Q

congenital defect of bone resporption resulting in structurally weak bone; AD or AR?

A

osteogenesis imperfecta; AD

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6
Q

what is the defect in osteogenesis imperfecta

A

defect in collagen type I synthesis

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7
Q

clinical features of osteogenesis imperfecta (3)

A

lots of fractures without bruising, blue sclera, hearing loss

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8
Q

why are the sclera blue in osteogenesis imperfecta

A

thinned cleral collagen reveals underlynig choroidal veins

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9
Q

abnormally thick heavy bone with an inherited defect in bone resorption

A

osteopetrosis

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10
Q

what cells have a defect in ostopetrosis; a mutation in what promotes this disease

A

poor ostoclast function; carbonic anhydrase II mutation leads to the loss of the acidic environment required for bone resoption

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11
Q

clinical features of osteopetrosis (5)

A

bone fractures (even though its so thick!), anemias/throbocytopenia/leukopenia (knocks out medullary areas), vision/hearing loss (compressed CN), hydrocephalus (foramen magnum), renal tubular acidosis - w/ the CAII prob

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12
Q

treatment for osteopetrosis

A

bone marrow transplant (osteoclasts derived from monocytes)

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13
Q

defect mineralization of osteoid (2 diseases)

A

ostomalacia and rickets

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14
Q

where does osteoid come from, and what does it turn into

A

osteoblasts produce osteoid which then mineralizes with Ca2+ and phosphate to form bone

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15
Q

low levels of _______, which normally is obtained from _____, results in rickets and osteomalacia

A

vitamin D, sunlight and diet

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16
Q

how does vitamin D turn into its active form, what enzymes are involved

A

25-hydroxylation by the liver then 1alpha-hydroxylation by the proximal tubule of the kidney

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17
Q

how does the active form of vitamin D increase calcium and phosphate levels? (its role in 3 organs)

A

intestine: increases absoption, kidney = increases reabsorption, bone = increases reabsorption

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18
Q

how can you get a vitamin D deficiency (5)

A

low sun exposure, poor diet, malabsorption, liver failure, renal failure

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19
Q

rickets occurs in what age group, when does it present

A

children, less than 1 year of age

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20
Q

clinical features of rickets

A

pigeon-breast deformity, frontal bossing (osteoid in skull), rachitic rosary (osteoid in costochondral junction), bowing of legs (older than 1)

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21
Q

what age are patients with osteomalacia

A

adults

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22
Q

laboratory vales in osteomalacia; serum calcium, serum phosphate, PTH, and alkaline phosphatase

A

decreased calcium, decreased phosphate, increased PTH, and increased alkaline phosphatase

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23
Q

osteomalacia results in what clinical symptom

A

increased risk for fracture in weight bearing areas

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24
Q

reduced trabelcular bone mass with porous bone

A

osteoporosis

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25
Q

what is the risk based on with osteporosis

A

peak bone mass

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26
Q

when is the peak bone mass achieved, and what factors contribute to it (3)

A

at 30, genetics - vitamin D receptors you get from parents, diet, and exercise

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27
Q

when does peak bone mass start to decline, and what factors are involved

A

after age 30, lack of weight-bearing exercise, poor diet, a decrease in estrogen like menopause

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28
Q

most common forms of osteoporosis

A

senile and postmenopausal

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29
Q

what bones are affected in osteoporosis

A

weight-bearing areas, like vertebrae, hip, distal radius

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30
Q

how is bone density measured

A

DEXA scan

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31
Q

what are the laboratory values in osteoporosis: serum calcium, serum phosphate, PTH, alkaline phosphatase

A

normal lab values! helps differentiate it from osteomalacia

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32
Q

treatment for osteoporosis

A

exercise, vitD, calcium, bisphosphonates (apoptosis of osteoclasts)

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33
Q

what medication is contraindicated with osteoporosis

A

glucocorticoids! they worsen osteoporosis

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34
Q

paget disease of the bone involves an imbalance between these 2 things:______; it also has an ______ etiology

A

ostoclast and osteoblast function with an unknown etiology

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35
Q

age of paget disease of bone

A

late adulthood, 60 years

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36
Q

what bones does paget disease of bone occur in

A

localized with one or more bones, does not involve entire skeleton

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37
Q

stages of paget disease of bone (3)

A

(1) osteoclastic, (2) mixed osteoblastic-osteoclastic, (3) osteoblastic

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38
Q

biopsy in paget disease of bone reveals:

A

mosaic pattern of lamellar bone, puzzle-piece, cement lines

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39
Q

clinical features of paget disease of bone

A

bone pain (microfractures), increasing hat size, hearing loss, lion face

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40
Q

what lab value is elevated with paget disease of bone

A

alkaline phophatase

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41
Q

most common cause of isolate elevated alkaline phosphatase in patients greaer than 40 years old

A

paget disease of bone

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42
Q

treatment for paget disease of bone (2)

A

calcitonin, bisphosphonates

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43
Q

complications seen with paget disease of bone

A

high-output cardiac failure (AV shunts form in bone after remodeling), and osteosarcoma

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44
Q

infection of marrow and bone

A

osteomyelitis

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45
Q

what age group does osteomyelitis usually present in?

A

children

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46
Q

cause of osteomyletis

A

bacterial arises from hematogenous spread

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47
Q

difference between seeding of bone in kids and adults with osteomyelitis

A

transient bacteremia seed metaphysis in children and open-wound bacteremia seeds epiphysis in adults

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48
Q

causitive agents of osteomyelitis, whats the most common, and what groups of people are seen with the other causitive agents

A

staph aureus (most common), n.gonorrhoeae (sexually active), salmonella (w/ sickle cell), pseudomonas (diabetics, IV drug abusers), pasteurella (with cat/dog scratches), mycobacterium tuerculosis (involves vertebrae seen with Pott disease)

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49
Q

clinical features of osteomyelitis

A

bone pain

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50
Q

what does bone of osteomyelitis look like on xray

A

lytic focus surrounded by sclerosis

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51
Q

ischemic necrosis of bone and bone marrow

A

avascular/aseptic necrosis

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52
Q

causes of avascular/asceptic necrosis, which is most common

A

trauma, fracture (most common), steroids, sickle cell anemia, caisson disease (gas emboli like N2 that can precipitate in the bone)

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53
Q

major complications of avascular/aseptic necrosis (2)

A

osteoarthritis and fracture

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54
Q

benign tumor of bone

A

osteoma

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55
Q

osteomas most commonly arise where? and what disease are they associated with

A

surface of facial bones, associated with gardner syndrome

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56
Q

what is gardner syndrome

A

FAP and fibromatosis and ostomas

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57
Q

benign tumor of osteoblasts that is surrounded by a rim of reactive bone

A

osteoid osteoma

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58
Q

what age group do osteoid osteomas typically arise in

A

adults less than 25 years in males is more common

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59
Q

what part of bone does an osteoid osteoma arise in

A

in the cortex of long bones like the femur

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60
Q

how does bone pain with an osteoid osteoma typically resolve

A

with aspirin

61
Q

how can you differentiate an osteoblastoma from an osteoid osteoma

A

(1) arises in the verterbrae, (2) presents as bone pain that doesnt respond to aspirin (3) is larger than 2cm (osteoid osteomas are less than 2cm)

62
Q

what do osteoblasts produce

A

osteoid

63
Q

most common benign tumor of bone

A

osteochondroma

64
Q

tumor of bone with an overlying cartilage cap

A

osteochondroma

65
Q

where does an osteochondroma arise

A

arises from a lateral projection of the growth plate (metaphysis). the bone will be continuous with the marrow space

66
Q

what may the overlying cartilage transform into with an osteochondroma

A

chondrosarcoma, rarely

67
Q

a malignant proliferation of osteoblasts

A

osteosarcoma

68
Q

at what age is n osteosarcoma usually seen

A

in teenagers and less commonly with the elderly

69
Q

where does an osteosarcoma arise from

A

from the metaphysis of long bones (like the distal femor or proximal tibia)

70
Q

what will be seen clinical presentation with an osteosarcoma

A

pathologic fracture or bone pain with swelling

71
Q

biopsy of an osteosarcoma reveals

A

pleomorphic cells producing osteoid

72
Q

what are risk factors for an osteosarcoma (3)

A

familial retinoblastoma, paget disease, and radiation exposure

73
Q

what bone tumor has a soap bubble appearance on xray

A

giant cell tumor

74
Q

what bone tumor has a bony mass with a radiolucent core

A

osteoid osteoma (osteoid deposit is middle)

75
Q

what bone tumor has a sunburst appearance with liftin gof the periosteum

A

ostosarcoma

76
Q

bone tumor with multinucleated giant cells and stromal cells

A

giant cell tumor

77
Q

what age group do giant cell tumors usually arise in

A

young adults

78
Q

what part of bone do giant cell tumors aris in

A

epiphysis of long bones, usually the distal femur or proximal tibia

79
Q

what is prognosis of a giant cell tumor

A

it is locally aggressive and may recur

80
Q

what bone tumor has an onion skin appearance on xray

A

ewing sarcoma

81
Q

what bone tumor has small round blue cells that look like lymphocytes

A

ewing sarcoma

82
Q

what translocation is characteristic with ewing sarcoma

A

(11;22)

83
Q

what part of the bone does ewing sarcoma arise in

A

diaphysis of long bones

84
Q

what age group does ewing sarcoma usually arise in

A

male children less than 15 years old

85
Q

ewing sarcoma is a malignant proliferation of what kind of cells

A

poorly differentiated cells derived from neuroectoderm

86
Q

benign tumor of cartilage

A

chondroma

87
Q

where do chondromas usually appear

A

medulla of small bones of the hands and feet

88
Q

malignant cartilage forming tumor

A

chondrosarcoma

89
Q

where do chondosarcomas arise

A

in medulla of the pelvis or central skeleton

90
Q

osteolytic punched out lesions are seen with what kind of bone tumors

A

metastatic tumors

91
Q

what carcinoma can typically produce ostoblastic lesions

A

prostatic carcinoma

92
Q

codman triangle is seen with what kind of bone tumor

A

osteosarcoma

93
Q

only bone tumor that arises in the epiphysis

A

giant cell tumor

94
Q

erlenmeyer flask deformity is seen with

A

osteopetrosis (ie. distal meetaphyses of ulna radius are poorly formed)

95
Q

what type of collagen makes hyalin cartilage that is present on the articular surface of bones

A

type II collagen

96
Q

most common type of arthritis

A

osteoarthritis

97
Q

what is there a degeneration of in osteoarthritis

A

articular cartilage

98
Q

risk factors for ostoarthritis

A

age after 60, obesity, trauma

99
Q

what joints are affected in osteoarthritis

A

hips, lower lumbar spine, kneeww, DIP, PIP

100
Q

when does joint stiffness occur with osteoarthritis

A

joint stiffness in the morning that worsens during the day

101
Q

in what degenerative joint disease are joint mice seen in

A

osteoarthritis

102
Q

what disease has joint stiffness in the morning that improves with activity

A

RA

103
Q

in what disease do you see sausage fingers or toes

A

in psoriatic arthritis

104
Q

what are baker cysts and in what disease are they present

A

swelling of bursa behind knee found in RA

105
Q

synovitis leading to pannus formation is found in

A

RA

106
Q

joint disease associated with HLA-DR4

A

RA

107
Q

joint disease associated with HLA-B27

A

ankylosing spondyloarthritis, reiter syndrome, psoriatic arthritis

108
Q

in what joint disease will you see enburnation of the subchondral bone

A

osteoarthritis

109
Q

in what disease will you see heberden and bouchard nodes and where are these nodes located

A

DIP for heberden and PIP for bouchard in osteoarthritis

110
Q

in what age group is rheumatoid arthritis seen in

A

women of late childbearing age

111
Q

what is the etiology of rheumatoid arthritis

A

systemic autoimmune disease

112
Q

in rheumatoid arthritis, what happens to the joint morphologically

A

there is destruction of the cartilage and anklosis or fusion of the joint

113
Q

what joints are involved in rheumatoid arthritis

A

PIP joints with a swan neck deformity, wrists (ulnar deviation), elbows, ankles, knewws

114
Q

what are some clinical features you see in RA other than the joint pain

A

constitutional with wt loss, rheumatoid nodules, vasculitis, baker cyst, pleural effusions, lymphadenopathy, interstitial lung fibrosis

115
Q

what antibodies are involved in RA

A

IgM autoantibody against Fc portion of IgG (Rf)

116
Q

what is seen in synovial fluid of a RA patient

A

neutrophils and high protein

117
Q

complications of RA

A

anemia of chronic disease and secondary amyloidosis

118
Q

what joints are involved in ankylosing spondyloarthritis

A

sacroiliac and spine

119
Q

population of ankylosing sponyloarthritis

A

young male adults

120
Q

extraarticular manifestations of ankylosing sponyloarthritis

A

uveitis and aortitis

121
Q

triad of reiter syndrome

A

conjunctivitis, arthritis, urethritis

122
Q

what is the typical presentation of reiter syndrome

A

arises in young male adults weeks after a GI or chlamydia trachomatis infection

123
Q

what joints are involved with psoriatic arthritis

A

axial and peripheral

124
Q

in what disease can you see bamboo spine or fusion of the vertebrae

A

ankylosing spondyloarthritis

125
Q

most common cause of infectionus arthritis and what population, what is 2nd most common and what age group

A

n gonorrhoeae in young adults and staph aureus in older children and adults

126
Q

what joint is involved in infectious arthritis

A

knee

127
Q

what is deposited in tissues and joints with gout

A

MSU monosodium urate cystals

128
Q

whats the cause of gout

A

hyperuricemia

129
Q

what is the the most common form of gout and whats the etiology

A

primary gout , etiology of hyperuricemia is undknown

130
Q

secondary gout is seen with:

A

keukemia/myeloproliferative disorders (increased cell turnover), lesch-nyhan syndrome, renal insufficiency

131
Q

what is lesch nyhan syndrome

A

and x-linked deficiency of HGPRT that presents with mental retardation and self mutilation

132
Q

gout typically presents as___ and what causes this presentation

A

MSU deposits in toes triggering inflammation

133
Q

what increases the inflammation of gout

A

alcohol and meat

134
Q

chronic gout leads to –>

A

tophi, renal failure

135
Q

what is seen on synovial fluid with gout

A

needle shaped crystals with negative birefringence under polarized light

136
Q

what is the cause of pseudogout (what is desposited?)

A

CPPD calcium pyrophosphate dihydrate CPPD

137
Q

synovial fluid for pseudogout shows

A

rhomboid shaped crystals with weakly positive birefringence under polarized light

138
Q

most common benign soft tissue tumor in adults

A

lipoma

139
Q

most common malignant soft tissue tumor in adults

A

liposarcoma

140
Q

liboblasts are present in what bone tumor

A

liposarcoma

141
Q

most common benign soft tissue tumor in adults

A

lipoma

142
Q

benign tumor of skeletal muslce

A

rhabdomyoma

143
Q

what is a cardiac rhabdomyoma associated with, what disease

A

tuberous sclerosis

144
Q

malignant tumor of skeletal muscle

A

rhabdomyosarcoma

145
Q

most common malignant soft tissue tumor in children

A

rhabodmyosarcoma

146
Q

characteristic cell found in a rhabdomyosarcoma

A

rhabdomyoblast

147
Q

a rhabdomyoblast test positive for what marker

A

desmin

148
Q

most common site of a rhabdomyosarcoma, and where is it common in girls

A

head and neck, vagina is a classic site in young girls

Pathology (9 decks)

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