MSK Pathology Flashcards

1
Q

Achondroplasia

A
No long bone growth
Normal trunk length and head size
FGFR3 mutation
AD
↑ risk with ↑ paternal age
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2
Q

Thanatophoric dysplasia

A

lethal dwarfism
FGFR3 mutation
small chest cavity
die soon after birth

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3
Q
Osteogenesis imperfecta
(type 1 vs type 2)
A

Brittle bone disease (fractures decrease with age)
blue sclera
brittle teeth
hearing loss

Type 1 → most common and mildest
Type 2 → lethal
Type 3 → blue sclera
Type 4 → white sclera

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4
Q

Osteoporosis

A

Most commonly due to ↑ resorption due to ↓ estrogen
Also causes from ↓ physical activity (immobility, astronauts)
-2.5 Standard deviations below normal bone mass
vertebral compression fractures
Normal Ca+2, PO4, ALP, and PTH
↓ bone mass

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5
Q

Osteopetrosis

A

↓ resorption due to defective osteoclasts
thickened, dense bones that are prone to fracture
Carbonic anhdrase II deficiency
Nerve compression (deafness)
↓ bone marrow → pancytopenia
erlenmeyer shaped long bones

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6
Q

Osteitis deformans

A
aka Paget disease
bone remodelling pathology
warm skin over affected bones and ↑ fractures/bowing
chalk stick fractures of legs
mosaic pattern of lamellar bone
↑ ALP
normal Ca+2, PO4, and PTH

Stages:
Lytic → osteoclasts
Mixed → osteoclasts and osteblasts
Sclerotic → osteoblasts

↑ risk of osteosarcoma

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7
Q

Osteomalacia

A
Rickets in adults
defective mineralization → ↑unmineralized matrix
Vit D deficiency
↓ Vit D, ↓ Ca+2, ↓ PO4, 
↑ PTH
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8
Q

Avascular necrosis of bone

A

Infarction of bone and marrow
Very painful

Causes:
Fractures
corticosteroid use
Alcoholism
Sickle cell
SLE
Gaucher disease (lysosomal storage dx)
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9
Q

Osteomyelitis

A

S. aureus most common
Salmonella → sickle cell
E coli, pseudomonas, klebsiella → UTI or IV drug use

Sequestrum → dead bone
Involucrum → shell of living bone

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10
Q

Tuberculous spondylitis (Pott disease)

A

mycobacterial osteomyelitis of the spine

permanent compression fractures

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11
Q

skeletal syphilis

A

Saber shin

saddle nose

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12
Q

Blue sclera

A

osteogenesis imperfecta

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13
Q

chalk stick fracture

A

osteitis deformans

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14
Q

Mosaic pattern of lamellar bone

A

osteitis deformans

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15
Q

RANK

A

Resorption (breakdown)

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16
Q

OPG

A

Builds

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17
Q

WNT

A

Builds

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18
Q

Sclerostin

A

inhibits WNT

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19
Q

M-CSF

A

↑ osteoclast production (remember that -clasts are macrophages)

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20
Q

carbonic anhydrase 2 deficiency

A

osteopetrosis

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21
Q

railroad tracks

A

dissecting osteitis

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22
Q

Osteochondroma

A
benign
young males
bony projection out of metaphysis
cartilage cap
multiple osteochondromas → ↑ risk of osteosarcoma
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23
Q

Chrondroma

A

benign cartilage tumor
small bones in hands and feet

Ollier syn → multiple chondromas
Maffuci syn → multiple chondromas + angiomas, ↑ risk of chondrosarcoma

24
Q

Ollier syndrom

A

multiple chrondromas

25
Q

Maffuci syndrome

A

multiple chondromas + angiomas, ↑ risk of chondrosarcoma

26
Q

chondrosarcoma

A

Malignant chondrocyte tumor

medulla of pelvis, femur, and humerus (shoulders***)

27
Q

Osteoid osteoma

A
benign 
young males
pain worse at night ****  relieved by NSAIDs
cortex of long bones
<2cm  ( >2cm = osteoblastoma)
28
Q

Osteoblastoma

A
benign
males
>2cm
spine
achy pain that does not respond to NSAIDs
29
Q

osteosarcoma

A
Malignant
most common malignant tumor
young males
metaphysis of long bones (usually knee)
Codman triangle or sunburst pattern on X-ray
Can be secondary to Li-Fraumani syndrome
30
Q

Codman triangle X-ray

A

osteosarcoma

31
Q

Tumor secondary to Li-Fraumani syndrome

A

osteosarcoma

32
Q

Ewing Sarcoma

A

Malignant
caucasian young boys
diaphysis of long bones, femur most common
small round blue cell tumor of neuroectoderm origin
Onion-skin periosteal reaction
t(11;22) fusion protein EWS-FL11

33
Q

Onion-skin periostium

A

Ewing Sarcoma

34
Q

t(11;22)

A

Ewing sarcoma

35
Q

Bouchards nodes

A

PIP nodes in OA

36
Q

heberden nodes

A

DIP in OA

37
Q

Joint mice

A

OA

38
Q

eburnation

A

OA (bare bone)

39
Q

subchondral cysts

A

OA

40
Q

osteophytes

A

OA

41
Q

Hyperplastic synovium

A

RA

42
Q

Pencil in cup

A

psoriatic arthritis

43
Q

finger nail indentations

A

psoriatic arthritis

44
Q

MAC deficiency and arthritis

A

neisseria gonorrhoeae

suppurative arthritis

45
Q

Calcium pyrophosphage crystal deposition disease

A

Pseudogout
+ birefringence rhomboid crystals
idioapathic
knee most common

46
Q

Leprosy

A

Schwann cells invaded by mycobacterium leprae
segmental demyelination, loss of both myelinated and unmyelinated axons
Endoneurial fibrosis
thickened perineural sheaths
loss of sensation

47
Q

Diptheria

A

parasthesias and weakness
loss of vibratory sense and proprioception
selective demyelination of anterior and posterior roots

48
Q

Myasthenia gravis

A

autoantibodies against AChR
associated with thymic hyperplasia
Worsens with muscle use **
EOM weakness, diplopia, ptosis

49
Q

Lambert-Eaton

A

Autoantibodies against presynaptic Ca++ channels which causes ↓ in ACh release
Paraneoplasitc syndrome associated with small cell lung cancer
Improves with muscle use **

50
Q

Dermatomyositis

A
Gottron pupules (scaly, erythematous patches on knuckles)
Heliotrope (lilac) edema of eye lids
proximal muscle weakness
↑ risk of malignancy
perimysial atrophy
51
Q

Polymyositis

A

myalgia
proximal muscle weakness
endomysial atrophy

52
Q

Inclusion body myositis

A

Rimmed vacuoles

53
Q

Duchene Muscular Dystrophy

A

X-linked

Frameshift mutation → no dystrophin

54
Q

Becker Muscular Dystrophy

A

X-linked
non-frameshift deletions → truncated or partially function dystrophin
near normal lifespan

55
Q

Myotonic dystrophy

A
CTG trinucleotide repeat
difficulty releasing handshake
Cataracts
Toupee (early balding)
Gondal atrophy
cardiomyopathy
56
Q

Erlen-meyer shaped long bones

A

ostoepetrosis