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

Question 1

achondroplasia is an impairment of what?

Answer 1

cartilage proliferation in growth plate

Question 2

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

Answer 2

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

Question 3

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

Answer 3

sporadic mutations associated with increased paternal age

Question 4

clinical features of achondroplasia?

Answer 4

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

Question 5

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

Answer 5

osteogenesis imperfecta; AD

Question 6

what is the defect in osteogenesis imperfecta

Answer 6

defect in collagen type I synthesis

Question 7

clinical features of osteogenesis imperfecta (3)

Answer 7

lots of fractures without bruising, blue sclera, hearing loss

Question 8

why are the sclera blue in osteogenesis imperfecta

Answer 8

thinned cleral collagen reveals underlynig choroidal veins

Question 9

abnormally thick heavy bone with an inherited defect in bone resorption

Answer 9

osteopetrosis

Question 10

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

Answer 10

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

Question 11

clinical features of osteopetrosis (5)

Answer 11

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

Question 12

treatment for osteopetrosis

Answer 12

bone marrow transplant (osteoclasts derived from monocytes)

Question 13

defect mineralization of osteoid (2 diseases)

Answer 13

ostomalacia and rickets

Question 14

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

Answer 14

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

Question 15

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

Answer 15

vitamin D, sunlight and diet

Question 16

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

Answer 16

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

Question 17

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

Answer 17

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

Question 18

how can you get a vitamin D deficiency (5)

Answer 18

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

Question 19

rickets occurs in what age group, when does it present

Answer 19

children, less than 1 year of age

Question 20

clinical features of rickets

Answer 20

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

Question 21

what age are patients with osteomalacia

Answer 21

adults

Question 22

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

Answer 22

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

Question 23

osteomalacia results in what clinical symptom

Answer 23

increased risk for fracture in weight bearing areas

Question 24

reduced trabelcular bone mass with porous bone

Answer 24

osteoporosis

Question 25

what is the risk based on with osteporosis

Answer 25

peak bone mass

Question 26

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

Answer 26

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

Question 27

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

Answer 27

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

Question 28

most common forms of osteoporosis

Answer 28

senile and postmenopausal

Question 29

what bones are affected in osteoporosis

Answer 29

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

Question 30

how is bone density measured

Answer 30

DEXA scan

Question 31

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

Answer 31

normal lab values! helps differentiate it from osteomalacia

Question 32

treatment for osteoporosis

Answer 32

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

Question 33

what medication is contraindicated with osteoporosis

Answer 33

glucocorticoids! they worsen osteoporosis

Question 34

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

Answer 34

ostoclast and osteoblast function with an unknown etiology

Question 35

age of paget disease of bone

Answer 35

late adulthood, 60 years

Question 36

what bones does paget disease of bone occur in

Answer 36

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

Question 37

stages of paget disease of bone (3)

Answer 37

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

Question 38

biopsy in paget disease of bone reveals:

Answer 38

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

Question 39

clinical features of paget disease of bone

Answer 39

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

Question 40

what lab value is elevated with paget disease of bone

Answer 40

alkaline phophatase

Question 41

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

Answer 41

paget disease of bone

Question 42

treatment for paget disease of bone (2)

Answer 42

calcitonin, bisphosphonates

Question 43

complications seen with paget disease of bone

Answer 43

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

Question 44

infection of marrow and bone

Answer 44

osteomyelitis

Question 45

what age group does osteomyelitis usually present in?

Answer 45

children

Question 46

cause of osteomyletis

Answer 46

bacterial arises from hematogenous spread

Question 47

difference between seeding of bone in kids and adults with osteomyelitis

Answer 47

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

Question 48

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

Answer 48

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)

Question 49

clinical features of osteomyelitis

Answer 49

bone pain

Question 50

what does bone of osteomyelitis look like on xray

Answer 50

lytic focus surrounded by sclerosis

Question 51

ischemic necrosis of bone and bone marrow

Answer 51

avascular/aseptic necrosis

Question 52

causes of avascular/asceptic necrosis, which is most common

Answer 52

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

Question 53

major complications of avascular/aseptic necrosis (2)

Answer 53

osteoarthritis and fracture

Question 54

benign tumor of bone

Answer 54

osteoma

Question 55

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

Answer 55

surface of facial bones, associated with gardner syndrome

Question 56

what is gardner syndrome

Answer 56

FAP and fibromatosis and ostomas

Question 57

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

Answer 57

osteoid osteoma

Question 58

what age group do osteoid osteomas typically arise in

Answer 58

adults less than 25 years in males is more common

Question 59

what part of bone does an osteoid osteoma arise in

Answer 59

in the cortex of long bones like the femur

Question 60

how does bone pain with an osteoid osteoma typically resolve

Answer 60

with aspirin

Question 61

how can you differentiate an osteoblastoma from an osteoid osteoma

Answer 61

(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)

Question 62

what do osteoblasts produce

Answer 62

osteoid

Question 63

most common benign tumor of bone

Answer 63

osteochondroma

Question 64

tumor of bone with an overlying cartilage cap

Answer 64

osteochondroma

Question 65

where does an osteochondroma arise

Answer 65

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

Question 66

what may the overlying cartilage transform into with an osteochondroma

Answer 66

chondrosarcoma, rarely

Question 67

a malignant proliferation of osteoblasts

Answer 67

osteosarcoma

Question 68

at what age is n osteosarcoma usually seen

Answer 68

in teenagers and less commonly with the elderly

Question 69

where does an osteosarcoma arise from

Answer 69

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

Question 70

what will be seen clinical presentation with an osteosarcoma

Answer 70

pathologic fracture or bone pain with swelling

Question 71

biopsy of an osteosarcoma reveals

Answer 71

pleomorphic cells producing osteoid

Question 72

what are risk factors for an osteosarcoma (3)

Answer 72

familial retinoblastoma, paget disease, and radiation exposure

Question 73

what bone tumor has a soap bubble appearance on xray

Answer 73

giant cell tumor

Question 74

what bone tumor has a bony mass with a radiolucent core

Answer 74

osteoid osteoma (osteoid deposit is middle)

Question 75

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

Answer 75

ostosarcoma

Question 76

bone tumor with multinucleated giant cells and stromal cells

Answer 76

giant cell tumor

Question 77

what age group do giant cell tumors usually arise in

Answer 77

young adults

Question 78

what part of bone do giant cell tumors aris in

Answer 78

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

Question 79

what is prognosis of a giant cell tumor

Answer 79

it is locally aggressive and may recur

Question 80

what bone tumor has an onion skin appearance on xray

Answer 80

ewing sarcoma

Question 81

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

Answer 81

ewing sarcoma

Question 82

what translocation is characteristic with ewing sarcoma

Answer 82

(11;22)

Question 83

what part of the bone does ewing sarcoma arise in

Answer 83

diaphysis of long bones

Question 84

what age group does ewing sarcoma usually arise in

Answer 84

male children less than 15 years old

Question 85

ewing sarcoma is a malignant proliferation of what kind of cells

Answer 85

poorly differentiated cells derived from neuroectoderm

Question 86

benign tumor of cartilage

Answer 86

chondroma

Question 87

where do chondromas usually appear

Answer 87

medulla of small bones of the hands and feet

Question 88

malignant cartilage forming tumor

Answer 88

chondrosarcoma

Question 89

where do chondosarcomas arise

Answer 89

in medulla of the pelvis or central skeleton

Question 90

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

Answer 90

metastatic tumors

Question 91

what carcinoma can typically produce ostoblastic lesions

Answer 91

prostatic carcinoma

Question 92

codman triangle is seen with what kind of bone tumor

Answer 92

osteosarcoma

Question 93

only bone tumor that arises in the epiphysis

Answer 93

giant cell tumor

Question 94

erlenmeyer flask deformity is seen with

Answer 94

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

Question 95

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

Answer 95

type II collagen

Question 96

most common type of arthritis

Answer 96

osteoarthritis

Question 97

what is there a degeneration of in osteoarthritis

Answer 97

articular cartilage

Question 98

risk factors for ostoarthritis

Answer 98

age after 60, obesity, trauma

Question 99

what joints are affected in osteoarthritis

Answer 99

hips, lower lumbar spine, kneeww, DIP, PIP

Question 100

when does joint stiffness occur with osteoarthritis

Answer 100

joint stiffness in the morning that worsens during the day

Question 101

in what degenerative joint disease are joint mice seen in

Answer 101

osteoarthritis

Question 102

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

Answer 102

RA

Question 103

in what disease do you see sausage fingers or toes

Answer 103

in psoriatic arthritis

Question 104

what are baker cysts and in what disease are they present

Answer 104

swelling of bursa behind knee found in RA

Question 105

synovitis leading to pannus formation is found in

Answer 105

RA

Question 106

joint disease associated with HLA-DR4

Answer 106

RA

Question 107

joint disease associated with HLA-B27

Answer 107

ankylosing spondyloarthritis, reiter syndrome, psoriatic arthritis

Question 108

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

Answer 108

osteoarthritis

Question 109

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

Answer 109

DIP for heberden and PIP for bouchard in osteoarthritis

Question 110

in what age group is rheumatoid arthritis seen in

Answer 110

women of late childbearing age

Question 111

what is the etiology of rheumatoid arthritis

Answer 111

systemic autoimmune disease

Question 112

in rheumatoid arthritis, what happens to the joint morphologically

Answer 112

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

Question 113

what joints are involved in rheumatoid arthritis

Answer 113

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

Question 114

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

Answer 114

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

Question 115

what antibodies are involved in RA

Answer 115

IgM autoantibody against Fc portion of IgG (Rf)

Question 116

what is seen in synovial fluid of a RA patient

Answer 116

neutrophils and high protein

Question 117

complications of RA

Answer 117

anemia of chronic disease and secondary amyloidosis

Question 118

what joints are involved in ankylosing spondyloarthritis

Answer 118

sacroiliac and spine

Question 119

population of ankylosing sponyloarthritis

Answer 119

young male adults

Question 120

extraarticular manifestations of ankylosing sponyloarthritis

Answer 120

uveitis and aortitis

Question 121

triad of reiter syndrome

Answer 121

conjunctivitis, arthritis, urethritis

Question 122

what is the typical presentation of reiter syndrome

Answer 122

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

Question 123

what joints are involved with psoriatic arthritis

Answer 123

axial and peripheral

Question 124

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

Answer 124

ankylosing spondyloarthritis

Question 125

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

Answer 125

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

Question 126

what joint is involved in infectious arthritis

Answer 126

knee

Question 127

what is deposited in tissues and joints with gout

Answer 127

MSU monosodium urate cystals

Question 128

whats the cause of gout

Answer 128

hyperuricemia

Question 129

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

Answer 129

primary gout , etiology of hyperuricemia is undknown

Question 130

secondary gout is seen with:

Answer 130

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

Question 131

what is lesch nyhan syndrome

Answer 131

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

Question 132

gout typically presents as___ and what causes this presentation

Answer 132

MSU deposits in toes triggering inflammation

Question 133

what increases the inflammation of gout

Answer 133

alcohol and meat

Question 134

chronic gout leads to -->

Answer 134

tophi, renal failure

Question 135

what is seen on synovial fluid with gout

Answer 135

needle shaped crystals with negative birefringence under polarized light

Question 136

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

Answer 136

CPPD calcium pyrophosphate dihydrate CPPD

Question 137

synovial fluid for pseudogout shows

Answer 137

rhomboid shaped crystals with weakly positive birefringence under polarized light

Question 138

most common benign soft tissue tumor in adults

Answer 138

lipoma

Question 139

most common malignant soft tissue tumor in adults

Answer 139

liposarcoma

Question 140

liboblasts are present in what bone tumor

Answer 140

liposarcoma

Question 141

most common benign soft tissue tumor in adults

Answer 141

lipoma

Question 142

benign tumor of skeletal muslce

Answer 142

rhabdomyoma

Question 143

what is a cardiac rhabdomyoma associated with, what disease

Answer 143

tuberous sclerosis

Question 144

malignant tumor of skeletal muscle

Answer 144

rhabdomyosarcoma

Question 145

most common malignant soft tissue tumor in children

Answer 145

rhabodmyosarcoma

Question 146

characteristic cell found in a rhabdomyosarcoma

Answer 146

rhabdomyoblast

Question 147

a rhabdomyoblast test positive for what marker

Answer 147

desmin

Question 148

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

Answer 148

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