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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
Q

possible infection agent associated with OSTEITIS DEFORMANS

A

paramyxovirus

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26
Q

what is the morphological hallmark of PAGET DISEASE - describe the bone

A

mosaic pattern - larger than normal, but softer and porous- leading to fractures

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27
Q

stages of PAGET DISEASE

A
  1. osteoclast

2. then osteoblast

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28
Q

what serum marker is a key finding in PAGET DISEASE

A

increase ALK-PHOS with normal calcium and phosphorus

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29
Q

what is seen on radiographs/bone scan in PAGET DISEASE

A

increased thickness of bone \ HOT SPOTS**

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30
Q

complications of PAGET disease

A

osteogenic sarcoma

high output HF

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31
Q

rare anatomic change seen in sever hyperPTH involving bone

A

osteitis fibrosa cystica

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32
Q

what type of tumor is seen in hyperPTH

A

brown tumor - cysts formed from macrophages

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33
Q

describe von Recklinghausen disease of bone

A

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
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34
Q

chronic renal disease leads to accumulation of what - that leads to what ?

A

phosphate - 2ndary hyperPTH

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35
Q

types of fractures

  1. bone is splintered
  2. communicates w/skin
  3. ends of bone are not aligned
  4. overlying tissue is intact
A
  1. comminuted
  2. compound
  3. displaced
  4. simple
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36
Q

TB osteomyelitis primarily targets which bone

A

vertebrae ** POTTS disease

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37
Q

saber shin

A

bone deposition on tibia

**skeletal syphilis

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38
Q

organisms for YAWS

A

treponema pertenue

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39
Q

osteoma MC location

A

face

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40
Q

osteoma - associated with?

A

FAP

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41
Q

osteoma less than 2 cm

A

osteoid osteoma

42
Q

osteoma greater than 2 cm

A

osteoblastoma

43
Q

MC location for osteoid osteoma/osteoblastoma

A

femur/vertebrae

44
Q

**characteristic of osteoid osteoma

A

nocturnal pain relieved by aspirin

45
Q

MC primary malignant bone tumor

A

osteosarcoma

46
Q

age group for osteosarcoma

A

less than 25

47
Q

MC site for osteosarcoma

48
Q

osteosarcoma + abundant malignant cartilage

A

chondroblastic osteosarcoma

49
Q

xray finding of osteosarcoma

A

CODMAN triangle

-tumor lifts the periosteum

50
Q

MC benign bone tumor

A

osteochondroma

51
Q

exostosis aka

A

osteochondroma

52
Q

define : enchondroma

A

chondroma within the medullary cavity

53
Q

multiple enchondromas - disease

A

Ollier disease

54
Q

enchondromatosis + soft tissue hemangiomas

A

maffucci syndrome

55
Q

primary location of enchondroma

A

small tubular bones of hands and feet

56
Q

chondroblastoma morphology

A

chicken wire

57
Q

majority of bone tumors occur in M or F

58
Q

which one is primarily females

A

giant cell tumor

59
Q

which cartilage tumor is mistaken for sarcoma

A

chondromyxoid fibroma

60
Q

location for chondrosarcoma

A

proximal bones-femur\pelvic bones

61
Q

malignant small round cell tumors of bone/soft tissue

A

Ewing sarcoma

PNET *neuroectodermal

62
Q

diff btw Ewing sarcoma and PNET

A

PNET is differentiated

Ewing sarcoma is undifferentiated

63
Q

morphology of Ewing sarcoma/PNET

A

homer wright rosettes

64
Q

xray finding in Ewing sarcoma/PNET

A

onion skin- periosteal reaction

65
Q

tumor of mononuclear cells + multinucleated osteoclast type cells

A

giant cell tumor aka osteoclastoma

66
Q

what is expressed by giant cell tumors

67
Q

morphology of giant cell tumor

A

red brown tumor + cystic degeneration

68
Q

benign tumor of bone + multiloculated blood filled cystic spaces

A

aneurysmal bone cyst

69
Q

solid vs cavitated joints

A

nonsynovial vs synovial

70
Q

solid joints

A

synarthroses

71
Q

cartilaginous synarthroses

A

synchondroses

72
Q

collagen in hyaline cartilage

73
Q

MC joint disease

74
Q

OA characterized by

A

progression erosion of articular cartilage

75
Q

is OA inflammatory or non-inflammatory

A

non inflammatory

76
Q

OA location is women

A

knee and hands

77
Q

OA location in men

78
Q

joint mice

79
Q

heberden nodes

A

DIP enlargement

80
Q

bouchard nodes

A

PIP enlargement

81
Q

RA - inflammatory or non-inflammatory

A

inflammatory

82
Q

what type of inflammation is RA

A

nonsuppurative proliferative and inflammatory synovitis

83
Q

pannus

A

RA

-mass of synovium and stroma that grows over the cartilage

84
Q

fibrous ankylosis

A

RA

-pannus bridges the two bones together

85
Q

MC cutaneous lesion of RA

A

rheumatoid nodules

86
Q

genes associated w RA

A

HLA-DRB1 + PTPN22

87
Q

**autoantibodies for RA

A

Fc portion of IgG (rheumatoid factor)

+ anti cyclic-citrullinated proteins

88
Q

what enzyme is important in RA

89
Q

what cytokine is important for RA

90
Q

xray hallmarks of RA

A

joint effusion + juxta-articular osteopenia with narrowing of the joint spaces

91
Q

tx for RA

92
Q

ppl on anti-TNF susceptible to?

A

M.tuberculosis

93
Q

criteria for JUVENILE IDIOPATHIC ARTHRITIS (JIA)

A

before age 16

persists for 6 weeks

94
Q

characteristics of JIA

A 
oligoarthritis
systemic disease is frequent
LARGE JOINTS
no nodules or factors
ANA+ **
95
Q

seronegative spondyloarthropathies - allele

96
Q

ankylosing spondyloarthritis aka

A

rheumatoid spondylitis and marie strumpell disease

97
Q

*Reiter syndrome

A

nongonococcal cervicitis and urethritis, conjunctivitis, arthritis.

98
Q

which infections can lead to REITER syndrome

A

GI-shigella,salmonella, Yersinia, campylobacter

GU-chlamydia

99
Q

enteritis associated arthritis

A

yersinia, salmonella, shigella, campylobacter

-last for about a year then gone

100
Q

sausage like fingers

A

psoriatic arthritis

-first affects DIP

101
Q

the 4 seronegative spondyloarthropathies

A
  1. ankylosing spondyloarthritis
  2. reiter syndrome
  3. psoriatic syndrome
  4. enteritis associated arthritis

PATHOLOGY | BONE (1 decks)

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