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PATHOLOGY | BONE > BONE > Flashcards

BONE Flashcards

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1
Q

mutation in ACHONDROPLASIA

A

FGFR3- activates the receptor which inhibits cartilage proliferation

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2
Q

what location is affected in ACHONDROPLASIA

A

growth plate

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3
Q

clinical presentation of ACHONDROPLASIA

A

normal head and torso. small arms and legs.

*tibial bowing

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4
Q

ACHONDROPLASIA- genetics

A

AD

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5
Q

most lethal form of dwarfism | cause

A

thanatophoric dwarfism | GOF-FGFR3 mutation

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6
Q

clinical presentation in THANATOPHORIC DWARFISM

A

shortened limbs, small chest, bell shaped abdomen. LETHAL death from respiratory insufficiency

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7
Q

type 1 collagen synthesis defect leads to

A

osteogenesis imperfecta

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8
Q

genetics of osteogenesis imperfecta

A

AD

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9
Q

clinical features of osteogenesis imperfecta

A

blue sclera
deafness
pathologic fractures at birth

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10
Q

tx for osteogenesis imperfecta

A

bisphosphonates

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11
Q

which type of osteogenesis imperfecta is lethal?

A

TYPE 2 - AR

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12
Q

which type of osteogenesis imperfecta has normal sclerae?

A

TYPE 4

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13
Q

” too much bone” \ osteoclast defect

A

OSTEOPETROSIS

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14
Q

which enzyme is defective in osteopetrosis?

A

carbonic anhydrase 2 - cant acidify resorption pit

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15
Q

x-ray finding of osteopetrosis?

A

Erlenmeyer flask

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16
Q

genetics of osteopetrosis

A

AD- less severe - not seen until adolesence

AR- more severe

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17
Q

clinical features of osteopetrosis?

A

fractures
anemia
cranial nerve compression (visual/hearing loss)

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18
Q

MC metabolic bone disease | define it

A

osteoporosis | decreased organic bone matrix(osteoid) and mineralized bone leads to POROUS BONES AND REDUCED BONE MASS

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19
Q

types of primary osteoporosis

A
  1. idiopathic- MC in young
  2. type 1- postmenopausal
  3. type 2-senile (>70)
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20
Q

causes of secondary osteoporosis

A
  1. hypercortisolism*
  2. drugs - heparin
  3. space travel
  4. hypogonadism (hypopituitarism)
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21
Q

how does lack of estrogen(EGN) cause osteoporosis?

A

normally, EGN decreases cytokine release that cause increased osteoclast activity
LESS ESTROGEN-MORE OSTEOCLAST ACTIVTY

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22
Q

kyphosis seen in advanced osteoporosis

A

dowagers hump

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23
Q

low turnover vs high turnover osteoporosis

A

senile vs post menopausual

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24
Q

Paget disease aka

A

osteitis deformans

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25
possible infection agent associated with OSTEITIS DEFORMANS
paramyxovirus
26
what is the morphological hallmark of PAGET DISEASE - describe the bone
mosaic pattern - larger than normal, but softer and porous- leading to fractures
27
stages of PAGET DISEASE
1. osteoclast | 2. then osteoblast
28
what serum marker is a key finding in PAGET DISEASE
increase ALK-PHOS with normal calcium and phosphorus
29
what is seen on radiographs/bone scan in PAGET DISEASE
increased thickness of bone \ HOT SPOTS**
30
complications of PAGET disease
osteogenic sarcoma | high output HF
31
rare anatomic change seen in sever hyperPTH involving bone
osteitis fibrosa cystica
32
what type of tumor is seen in hyperPTH
brown tumor - cysts formed from macrophages
33
describe von Recklinghausen disease of bone
aka osteitis fibrosa cystica 1. hyperPTH leads to increased bone resorption 2. bone loss leads to fractures and bleeding which causes peritrabecular fibrosis - and cyst like BROWN TUMOR
34
chronic renal disease leads to accumulation of what - that leads to what ?
phosphate - 2ndary hyperPTH
35
types of fractures 1. bone is splintered 2. communicates w/skin 3. ends of bone are not aligned 4. overlying tissue is intact
1. comminuted 2. compound 3. displaced 4. simple
36
TB osteomyelitis primarily targets which bone
vertebrae ** POTTS disease
37
saber shin
bone deposition on tibia | **skeletal syphilis
38
organisms for YAWS
treponema pertenue
39
osteoma MC location
face
40
osteoma - associated with?
FAP
41
osteoma less than 2 cm
osteoid osteoma
42
osteoma greater than 2 cm
osteoblastoma
43
MC location for osteoid osteoma/osteoblastoma
femur/vertebrae
44
**characteristic of osteoid osteoma
nocturnal pain relieved by aspirin
45
MC primary malignant bone tumor
osteosarcoma
46
age group for osteosarcoma
less than 25
47
MC site for osteosarcoma
knee
48
osteosarcoma + abundant malignant cartilage
chondroblastic osteosarcoma
49
xray finding of osteosarcoma
CODMAN triangle | -tumor lifts the periosteum
50
MC benign bone tumor
osteochondroma
51
exostosis aka
osteochondroma
52
define : enchondroma
chondroma within the medullary cavity
53
multiple enchondromas - disease
Ollier disease
54
enchondromatosis + soft tissue hemangiomas
maffucci syndrome
55
primary location of enchondroma
small tubular bones of hands and feet
56
chondroblastoma morphology
chicken wire
57
majority of bone tumors occur in M or F
males
58
which one is primarily females
giant cell tumor
59
which cartilage tumor is mistaken for sarcoma
chondromyxoid fibroma
60
location for chondrosarcoma
proximal bones-femur\pelvic bones
61
malignant small round cell tumors of bone/soft tissue
Ewing sarcoma | PNET *neuroectodermal
62
diff btw Ewing sarcoma and PNET
PNET is differentiated | Ewing sarcoma is undifferentiated
63
morphology of Ewing sarcoma/PNET
homer wright rosettes
64
xray finding in Ewing sarcoma/PNET
onion skin- periosteal reaction
65
tumor of mononuclear cells + multinucleated osteoclast type cells
giant cell tumor aka osteoclastoma
66
what is expressed by giant cell tumors
RANKL
67
morphology of giant cell tumor
red brown tumor + cystic degeneration
68
benign tumor of bone + multiloculated blood filled cystic spaces
aneurysmal bone cyst
69
solid vs cavitated joints
nonsynovial vs synovial
70
solid joints
synarthroses
71
cartilaginous synarthroses
synchondroses
72
collagen in hyaline cartilage
2
73
MC joint disease
OA
74
OA characterized by
progression erosion of articular cartilage
75
is OA inflammatory or non-inflammatory
non inflammatory
76
OA location is women
knee and hands
77
OA location in men
hips
78
joint mice
OA
79
heberden nodes
DIP enlargement
80
bouchard nodes
PIP enlargement
81
RA - inflammatory or non-inflammatory
inflammatory
82
what type of inflammation is RA
nonsuppurative proliferative and inflammatory synovitis
83
pannus
RA | -mass of synovium and stroma that grows over the cartilage
84
fibrous ankylosis
RA | -pannus bridges the two bones together
85
MC cutaneous lesion of RA
rheumatoid nodules
86
genes associated w RA
HLA-DRB1 + PTPN22
87
**autoantibodies for RA
Fc portion of IgG (rheumatoid factor) | + anti cyclic-citrullinated proteins
88
what enzyme is important in RA
MMP
89
what cytokine is important for RA
TNF
90
xray hallmarks of RA
joint effusion + juxta-articular osteopenia with narrowing of the joint spaces
91
tx for RA
anti-TNF
92
ppl on anti-TNF susceptible to?
M.tuberculosis
93
criteria for JUVENILE IDIOPATHIC ARTHRITIS (JIA)
before age 16 | persists for 6 weeks
94
characteristics of JIA
``` oligoarthritis systemic disease is frequent LARGE JOINTS no nodules or factors ANA+ ** ```
95
seronegative spondyloarthropathies - allele
HLA-B27
96
ankylosing spondyloarthritis aka
rheumatoid spondylitis and marie strumpell disease
97
*Reiter syndrome
nongonococcal cervicitis and urethritis, conjunctivitis, arthritis.
98
which infections can lead to REITER syndrome
GI-shigella,salmonella, Yersinia, campylobacter | GU-chlamydia
99
enteritis associated arthritis
yersinia, salmonella, shigella, campylobacter | -last for about a year then gone
100
sausage like fingers
psoriatic arthritis | -first affects DIP
101
the 4 seronegative spondyloarthropathies
1. ankylosing spondyloarthritis 2. reiter syndrome 3. psoriatic syndrome 4. enteritis associated arthritis

PATHOLOGY | BONE (1 decks)

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