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msk and ct - step > pathology - bone disorders/tumours > Flashcards

pathology - bone disorders/tumours Flashcards

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1
Q

what goes wrong in achondroplasia

A

failure of longitudinal bone growth/endochondral ossificiation bc chondrocyte proliferation is inhibited

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2
Q

genetics of achondroplasia please

A

FGFR3 muation that results in constitutive actvation and inhibited chondrocyte proliferation

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3
Q

compare sponatenous vrs AD inheritance of achondroplaisa

A

spontaneous = > 85%

AD the others

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4
Q

what increases rate of mutations leading to achondroplasia

A

increased paternal age

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5
Q

describe the AD fo achondroplasia

A

AD with full penentrance; homozygosity is lethal

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6
Q

what is the most common cause of dwarfism

A

achondroplasia

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7
Q

what is primary osteoporosis

A

trabecular/spongy bone loses mass and interconnectiosn despite normal bone minearlization and lab vaullues

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8
Q

how to diagnosse primary osteoporosis

A

DEXA and T scor eof < - 2.5

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9
Q

T score of < 2.5

A

osteoporosis

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10
Q

wht can cause primary osteoporosis

A

long term esogenosu steroid use
anticonvulstand
anticoagulates
thyroid replacement theraphy

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11
Q 
what do these cause?
long term exogenous steroid use
anticonvulsants
anticoagulatneas
thyroid replacement therapy
A

primary osteoporosis

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12
Q

what are the most common types of fractures in osteoporisis

A

vertebral compression gractures
colles fracutres
fracutres of femoral neck

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13
Q

how do vetebral compression fractures present

A

acute back pain
loss of heighy
kyphosis

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14
Q

acute back pain
loss of height
kyphosis

A

primary osteoporisis with vertebral compression fracture

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15
Q

i say vertebral compression fractures, fracture at head fo femur and colle fracture you think?

A

primary osteoporosis

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16
Q

what causes type I primary osteoporosis?

A

post menopausal

increased bone resoprtion due to decreased estrogen

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17
Q

what is type II primary osteoporisis?

A

senile.

affects men and women > 70 years old

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18
Q

how to prophylaxis vrs primary osteoporisis type II senile

A

regular weight bearing exercise
adequte Ca and vitamin D thorughout adulthood
no smoking

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19
Q

treat primaroy osteoporosis

A

lifestyle modifications
bisphosphonase FIRST LINE
PTH analogs
SERMs (raloxifen/…? the one that isnet tamoxifen)
rarely calcitonin
DENOSUMAB (monoclonal RANKL, acts as osteoprotegrin)

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20
Q

inheritance pattern of osteopetrosis pelase

A

autosomal recessive

aka marble bone disease

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21
Q

what is osteopetrosis

A

failure of normal bone resportion due to defective osteoclasts

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22
Q

cxl indings in osteopetrosis please

A

thickeedn dense bones that are prone to fracture
bone fills marrow = pancytopenia and extramedullary hematopoiesis
BONE IN BONE at xray
cranial nerve impingement and palsies (hearing and vision loss) from narrowed foramina

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23
Q

xray of osteopetrosis

A

bone in bone

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24
Q

bone in bone

A

xray of osteopetrosis

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25
genetics of osteopetrosis please
mutations in for ex carbonic anhydrase II impaired ability of required osteoblast generation of acidic environment necessary for bone reabsorption. osteoblasts need alkaline environment.
26
what causes osteomalacia/rickets
vitamin D defieicny - defective mineralization/calcificaiton fo osteoid
27
defective minetalizaiton /caclification of osteoid
osteomalaica/rickets/vitamin D deficiency
28
soft, bowing out bones
osteomalacia/rickets (more so)
29
describe blood analysis in osteomalacia
decreased vitamin D - decreased ca and decreased PO4 - increased PTH increased ALP - increased osteoblast hyperactivity
30
why is there increased ALP in osteomalacia?
osteoblast hyperactivity = increased ALP; osteoblasts require alkaline environment for functioning
31
osteitis defromans aka
paget disease of bone
32
what causes page dz of bone
tis common | localized disorder of bone remodeling caused by increased in both osteoblastic and osteoclastic activity.
33
describe blood analaysis of pagets
``` normal ca normal vit d normal pho4 normal pth increased ALP ```
34
describe bone in pagets
mosaic patterh of woven and lamellar
35
chal stick fractures in long bone = ?
paget disease
36
complications in paget disease
high output cardiac failure = icnreased blood flow in bone due to icnreased arteriovenous shunts increased risk of osteogenic sarcoma
37
cxpx of pagets
``` male > 50 at pelvis, skull, femur BONE PAIN = most common complaint head ache and hearing loss increased hat size ```
38
list the staged of paget disease pelase
lytic - osteoclasts mak lytic shaggy appearing lesions in bone mixed - osteoclasts and osteoblasts sclerotic - obsteoblasts = increased ALP quiescent - minimal osteoclast/osteoblast activity
39
xray finding on pagets
thickening of calvarium
40
what am i? | h and e with osteocytes in lacuane and chatoic, mosaic pattern with lacy puple lines of bone remodelling
paget disease
41
what is osteonecrosis
infarction of bone and marrow | avascular necorsis
42
most common site of osteonecrosis/avascular necrosis
femoral head | due to insufficiency of medial circumflex artery
43
what are teh causes of ostenoercosis
ASEPTCI alcoholism, sickle cell dsiease, storage, exogenios and endocenous corticosteroids, pancreatitis ,trauma, legg calve perthes and caisson the bengs
44
``` what are these things: caisson endogenous and exogenous corticosteroids sickle cell diseases storage alcoholsim pancreatitis trauma legg calve perthes ```
causes of aseptic necrosis
45
if you had to break your fever at its head, where would you prefer? pertrochangeric or supcapsular ?
peritrocahnteric - doesnt vut off the medial circumflex femoral artery - no aseptc necrosis
46
lab values for OSTEOPOROSIS please
``` normal ca nomla po4 normal alp normal pth decreased bone mass ```
47
lab vaules for OSTEOPETROSIS please
``` normal ca or decreased normal po4 normal alp normal pth dense, brittle bones. calcium only decreased in severe disease or malignant disease ```
48
labs for PAGET DIASES pelase
``` normal calcium normal PO4 increasd ALP normal pth abnomral mosaic bone architectures ```
49
labs for OSTEOMALACIA/RICKETS
``` decrease calcium decreased PO4 increased ALP increased PTH soft bones ```
50
labs for HYPERVITAMINOSIS
``` increase calcium increased PO4 no change in ALP decreased PTH granulomatous disease and oversupplementation cause it ```
51
labs for primary hyperparathyroidism/osteitits dirbosa cystica
``` increased ca decreased po4 increased ALP incrased PTH brown tumors due to fibous replacemtn of bone, subperiosteal thinnking ```
52
labs for secondary hyperparathyroidism/osteitis fibroisa cystica
``` decreased ca increased po4 increased ALP increased PTH ofetn due to ESRD ```
53
list the primary benign bone tumours
giant cell | osteochondroma
54
list teh primary maligi bone tumors
osteogenic sarcoma/oteosarcoma | ewing sarcoma
55
age group for giant cell tumors
20-40 yo
56
age group for osteochondroma
males < 25
57
age group for osteogenic sarcoma/osteosarcoma
bimodal 10-20 and ? 65
58
age group for ewing sarcoma
boys < 15 years
59
location of giant cell tumor
epiphyseal end of long bones
60
location of osteochondroma
exostosis at the metaphysis
61
location of osteogenic sarcoma/osteosarcoma
metaphysis of long bones/near knee
62
location fo ewign sarcoma
diaphysis of long pones, pelvis, scapula, ribs
63
describe appaerance of giant cell tumor
multinuleared giant cells | soap bubble on xray (at epiphysis)
64
describe appearbce of osteochnroma
exostosis with mature bone and cartilgiound cap
65
describe apperance of osteogenic sarcoma/osteosarcoma
codman trianle - elevateion of periosteum or sunbust pattern on xray
66
describe appearse of wewing sarcoma
anaplasti small blue cell maligi | onion skin periosteal reaction in bone
67
t(11;22)
ewing sarcoma - EWS-FLI-1
68
describe behaviour of giant cell
lolcaaly agressive bening around the knee
69
describe behaviour of osteochondroma
rarely transforms to chondrosarcoma
70
describe behaviour of osteogenic sarcoma/osteosarcoma
agressive - treat with suriflca en bloc resection with limb salvage and chemotheapy
71
describe behaviour of ewing sarcoma
extermely aggressive with early mets | responsive to chemotherapy
72
predipsosing factors for osteogenic sarcoma/osteosarcoma
``` pagets bone infarcts radiation familial retinoblastoma li fraumeni ```
73
list tumors found in diaphysis
round cell luesions - ewing sarcoma and myeloma fibrous dysplasia psteoid osteoma
74
tumor with nighttime pain and central nidus
osteioid osteoma - diaphsys
75
list the tumors in the metaphysis
osteosarcoma and osteochondroma and simple bone cyst
76
list the tumros int eh epeiphysis
giant cell tumor

msk and ct - step (6 decks)

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