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Abbey MSII Unit 1 pt 2 > Pathoma 3. > Flashcards

Pathoma 3. Flashcards

1
Q

achondroplasia

A

impaired cartilage proliferation in the growth plate; common cause of dwarfism

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2
Q

What causes achondroplasia?

A

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

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3
Q

What are clinical features of achondroplasia?

A

short extremities with normal sized head and chest (due to poor endochondral bone formation, but normal intramembranous bone formation)

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4
Q

Endochondral bone formation

A

formation of a cartilage matrix which is then replaced with bone (long bones)

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5
Q

Intramembranous bone formation

A

formation of bone without a preexisiting cartilage matrix

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6
Q

Osteogenesis imperfecta

A

congenital defect of bone formation resulting in structurally weak bone

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7
Q

What causes osteogenesis imperfecta?

A

AD defect in collagen type I synthesis

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8
Q

What are the clinical features of osteogenesis imperfecta?

A

multiple fractures of bone, blue sclera, hearing loss

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9
Q

Osteopetrosis

A

inherited defect of bone resorption resulting in abnormally thick, heavy bone that fractures easily (like chalk)

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10
Q

What is osteopetrosis the result of?

A

poor osteoclast function due to carbonic anhydrase II mutation (leads to loss of the acidic microenvironment required for bone resorption)

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11
Q

What are the clinical features of osteopetrosis?

A

bone fractures, anemia, thrombocytopenia, leukopenia with extra medullary hematopoiesis (due to bony replacement of the marrow), vision and hearing impairment, hydrocephalus (narrowing of foramen magnum), renal tubular acidosis (carbonic anhydrase II mutation)

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12
Q

What is the treatment for osteopetrosis?

A

bone marrow transplant because osteoclasts are derived from monocytes (need new monocytes)

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13
Q

Rickets/Osteomalacia

A

defective mineralization of osteoid (normally produced by osteoblasts)

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14
Q

What causes rickets/osteomalacia?

A

low levels of Vit D (causes low serum calcium and phosphate)

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15
Q

How is vit D activated?

A

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

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16
Q

How does active Vit D raise serum calcium and phosphate?

A

intestine (increase absorption), kidney (increase resorption), bone (increase resorption)

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17
Q

What can vit D deficiency be caused by?

A

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

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18
Q

How does rickets present?

A

in children - pigeon breast deformity (inward bending of the ribs), frontal bossing (enlarged forehead), rachitic rosary (osteoid deposition at the costochondral junction), bowing of legs

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19
Q

How does osteomalacia present?

A

in adults - inadequate mineralization = weak bone, decreased serum calcium, decreased serum phosphate (because low vit D), increased PTH (because low Ca2+), increased alkaline phosphatase

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20
Q

What is osteoporosis?

A

reduction in trabecular bone mass resulting in porous bone with an increased risk for fracture

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21
Q

What are the risk factors of osteoporosis?

A

peak bone mass (age 30) and rate of bone loss afterwards. based on weight bearing exercise, poor diet, decreased estrogen

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22
Q

What are the most common forms of osteoporosis?

A

senile and postmenopausal

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23
Q

How does osteoporosis present clinically?

A

bone pain and fractures in weight-bearing area, bone density on DEXA scan, serum calcium, phosphate, PTH, alkaline phosphatase are NORMAL

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24
Q

What presents clinically like osteoporosis? How are they distinguished?

A

osteomalacia - labs are normal in osteoporosis for calcium, phosphate, PTH, alkaline phosphatase

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25
What is the treatment for osteoporosis?
exercise, vit D, calcium to limit bone loss, bisphosphonates to induce apoptosis of osteoclasts
26
What drug is contraindicated in osteoporosis?
glucocorticoids because they worsen osteoporosis
27
Paget disease of bone
imbalance between osteoclast and osteoblast function
28
What is the etiology of page disease of bone?
unknown, but maybe viral
29
Where is paget disease of bone typically localized to?
one or more bones, but does NOT involve entire skeleton
30
What are the three stages of page disease of bone?
1. osteoclastic (start working without permission of osteoblasts (osteoblasts receive signal from PTH) 2. mixed osteoblastic-osteoclastic (osteoblasts lays down as quickly as possible to try and make up for out of control osteoclasts but makes weak bone) 3. osteoblastic
31
What does biopsy of paget disease of bone reveal?
mosaic pattern of lamellar bone
32
What are the clinical features of paget disease of bone?
bone pain, increasing hat size, hearing loss, lion-like facies, isolated elevated alkaline phosphatase
33
What is treatment for paget disease of bone?
calcitonin (inhibits osteoclast function - opposite of PTH) and bisphosphonates (induces apoptosis of osteoclasts)
34
Bisphosphonates in clinical treatment
induce apoptosis of osteoclasts
35
What are complications of paget disease of bone?
high-output cardiac failure (due to AV shunts in bone) and osteosarcoma
36
Osteomyelitis
infection of marrow and bone typically in children
37
What is cause of osteomyelitis?
bacterial via hematogenous spread
38
Where does osteomyelitis seed in children?
transient bacteremia seeds metaphysis (growth plate)
39
Where does osteomyelitis seed in adults?
open-wound bacteremia seeds epiphysis (rounded end of a long bone)
40
What are common causes of osteomyelitis?
staph aureus (most common), gonorrhoeae, salmonella, pseudomonas, pasteurella, mycobacterium tuberculosis
41
What are clinical features of osteomyelitis?
bone pain with systemic signs of infection (fever and leukocytosis), lytic focus (abscess) surround by sclerosis of bone on x-ray (sclerosis surrounding necrosis)
42
How is diagnosis of osteomyelitis made?
blood culture
43
What is avascular necrosis?
ischemic necrosis of bone and bone marrow
44
What are causes of avascular necrosis?
trauma or fracture (most common), steroids, sickle cell, caisson disease (gas emboli lodging in bone)
45
What are complications of avascular necrosis?
osteoathritis and fracture
46
Osteoma - what is it and where does it typically present?
benign tumor of bone - surface of facial bones
47
Osteoid Osteoma
benign tumor of osteoblasts surrounded by a rim of reactive bone
48
Who doe osteoid osteoma typically occur in?
young adults (
49
Where does osteoid osteoma typically present?
cortex of long bones (outside - usually diaphysis)
50
How does osteoid osteoma typically present?
bone pain that RESOLVES WITH ASPIRIN
51
How does osteoid osteoma present on imaging?
bony mass with a radiolucent core
52
What is an osteoblastoma?
similar to osteoid osteoma but is larger, arises in vertebrae, and presents as bone pain that DOES NOT RESOLVE WITH ASPIRIN
53
Osteochondroma
tumor of bone with an overlying cartilage cap; most common benign tumor of bone
54
Where does osteochondroma arise?
from lateral projection of the growth plat (metaphysis) - bone is continuous with the marrow space
55
What is a complication of osteochondroma?
overlying cartilage can transform to chondroscarcoma
56
Osteosarcoma
malignant proliferation of osteoblasts
57
When is the peak incidence of osteosarcoma?
teenagers, less commonly in elderly (risk factors familial retinoblastoma, paget disease, radiation exposure)
58
How does osteosarcoma present?
pathologic fracture or bone pain with swelling
59
How does osteosarcoma present on imaging?
a destructive mass with a “sunburst” appearance and lifting of the periosteum
60
What does biopsy of osteosarcoma reveal?
pleomorphic cells that produce osteoid
61
Giant cell tumor
tumor comprised of multinucleate giant cells and stromal cells occurring in young adults
62
Where does a giant cell tumor airse?
epiphysis of long bones, usually distal femur or proximal tibia
63
How does a giant cell tumor appear on x-ray?
soap-bubble
64
Ewing sarcoma
malignant proliferation of poorly-differentiated cells derived from neuroectoderm
65
Where does ewing sarcoma arise?
diaphysis of long bones, usually male children
66
How does ewing sarcoma appear on x-ray?
onion-skin appearance
67
What does biopsy of ewing sarcoma reveal? What is characteristic of ewing sarcoma?
small, round blue cells that resemble lymphocytes and have an 11;22 characteristic translocation
68
Condroma
benign tumor of cartilage that usually arises in the medulla of small bones
69
Chondrosarcoma
malignant cartilage-forming tumor that arises in medullar of pelvis/central skeleton
70
Metastatic tumors in bones
more common than primary tumors - usually result in osteolytic (punched-out) lesions
71
What is the exception of metastatic tumors resulting in osteolytic lesions?
prostatic carcinoma (classically produces osteoblastic lesions)
72
What type of cartilage is present in synovial joints?
type II collagen - hyaline cartilage
73
What is the synovium lining the join capsule secrete?
fluid rich in hyaluronic acid
74
Osteoarthritis
degenerative joint disease - progressive degeneration of articular cartilage
75
What is the most common cause of osteoarthritis?
wear and tear
76
What are the risk factors for osteoarthritis?
age, obesity, trauma
77
What are the most common joints osteoarthritis affects?
hips, lower lumbar spine, knees, DIP, PIP
78
What is the classic presentation of osteoarthritis?
joint stiffness in the morning that worsens during the day
79
What are pathologic features of osteoarthritis?
1. disruption of the cartilage that lines the articular surface; fragments of cartilage floating in the joint space “joint mice” 2. eburnation of the subchondral bone 3. osteophyte formation (reactibe bony outgrowths DIP and PIP joints)
80
Rheumatoid arthritis
chronic, systemic autoimmune disease
81
What is rheumatoid arthritis associated with?
HLA-DR4
82
What is the hallmark of rheumatoid arthritis?
synovitis leading to formation of a pannus (inflamed granulation tissue)
83
What does rheumatoid arthritis lead to?
destruction of cartilage and ankylosis (fusion) of the joint
84
What are the clinical features of rheumatoid arthritis?
1. morning stiffness that improves with activity. symmetric involvement of PIP, wrists, elbows, ankles, and knees; DIP spared 2. fever malaise, weight loss, myalgia 3. rheumatoid nodules 4. vasculitis 5. baker cyst 6. pleural effusions, lymphadenopathy, interstitial lung fibrosis
85
What is seen on x-ray of rheumatoid arthritis?
joint-space narrowing, loss of cartilage, osteopenia
86
What are lab findings for rheumatoid arthritis?
IgM autoantibody against Fc portion of IgG (rheumatoid factor); also neutrophils and high protein in synovial fluid
87
What are complications of rheumatoid arthritis?
anemia of chronic disease and secondary amyloidosis
88
Seronegative spondyloarthropathies?
group of joint disorders characterized by 1. lack of rheumatoid factor (serum - ); 2. axial skeleton involvement; 3. HLA-B27 association
89
What does ankylosing spondyloarthritis involve?
sacroiliac joints and spine (presents with low back pain and eventually leads to fusion of vertebrae)
90
Who is at greatest risk to developing ankylosing spondyloarthritis?
young adults most often male
91
What are extra-articular manifestations of ankylosing spondyloarthritis?
uveitis and aortitis
92
What is Reiter syndrome?
a seronegative spondyloarthropathy; characterized by triad of arthritis, urethritis, and conjunctivitis usually in young males after GI of chlamydia infection
93
What is psoriatic arthritis?
involves axial and peripheral joints - DIP joints most ofter leading to sausage fingers/toes - in 10% of cases of psoriasis
94
Infectious arthritis
usually bacterial - n gonorrhoeae (most common) and staph aureus
95
What is classically seen in infectious arthritis?
single joint, usually knee
96
How does infectious arthritis present?
warm joint with limited range of motion, fever, increased WBC count, elevated ESR
97
Gout
deposition of monosodium urate (MSU) crystals in tissue, especially joints
98
What is gout due to?
hyperuricemia; related to overproduction or decreased excretion of uric acid (which is derived from purine metabolism and excreted by kidney)
99
What is the most common form of gout?
primary gout
100
What is secondary gout seen with?
1. leukemia and myeloproliferative disorders (increased cell turnover leads to hyperuricemia) 2. Lesch-Nyhan syndrome (HGPRT deficiency presenting with mental retardation and self mutilation) 3. renal insufficiency
101
How does acute gout present?
painful arthritis of the great toe - MSU crystal deposit causing acute inflammatory reaction
102
What may precipitate arthritis causing acute gout?
alcohol (alcohol is in competent for excretion with uric acid) or consumption of meat (bringing in lots of DNA/RNA)
103
What does chronic gout lead to?
1. development of top - white, chalky aggregates of uric acid crystals with fibrosis and giant cell reaction in the soft tissue and joints. 2. renal failure (crystals deposit in kidney tubules)
104
What are lab findings in gout?
hyperuricemia; synovial fluid shows needle-shaped crystals with negative birefringence on polarized light
105
What is pseudogout?
due to deposition of calcium pyrophosphate dehydrate (CPPD); synovial fluid shows rhomboid shaped crystals with weakly positive birefringence
106
Dermatomyositis
inflammatory disorder of skin and skeletal muscle - sometimes associated with carcinoma
107
What are clinical features of dermatomyositis?
bilateral proximal muscle weakness (can’t comb hair or climb stairs), rash of upper eyelids, malar rash, red papules on elbows, knuckles, knees
108
What can be confused as lupus?
dermatomyositis (malar rash)
109
What are lab findings in dermatomyositis?
increased creatine kinase (muscle), positive ANA and anti-Jo-1 antibody, perimysial inflammation with perifasicular atrophy on biopsy (edge of muscle - close to skin)
110
What is treatment for dermatomyositis?
corticosteroids
111
Polymyositis
inflammatory disorder of skeletal muscle - no skin involve; endomysial (inside muscle)
112
How does biopsy of polymyositis differ from dermatomyositis?
polymyositis: CD8+ cells (CD4 for dm) with necrotic muscle fibers (perifascicular atrophy for dm)
113
X-linked muscular dystrophy
degenerative disorder characterized by muscle wasting and replacement of skeletal muscle by adipose tissue
114
What is X-linked muscular dystrophy due to?
defects of dystrophin gene
115
What does the dystrophin gene do?
important for anchoring the muscle cytoskeleton to ECM
116
What is the difference between Duchenne muscular dystrophy and Becker muscular dystrophy?
Duchenne = deletion of dystrophin, Becker = mutated (clinically milder)
117
How does Duchenne muscular dystrophy present?
presents as proximal muscle weakness at 1 year of age and progresses to distal muscles (calf pseudohypertrophy)
118
What lab value is elevated in muscular dystrophy?
creatine kinase
119
What does death usually result from in patients with Duchenne muscular dystrophy?
cardiac or respiratory failure. myocardium commonly involved
120
lipoma
benign tumor of adipose tissue; most common benign soft tissue tumor
121
liposarcoma
malignant tumor of adipose tissue; most common malignant soft tissue tumor
122
What is the characteristic cell in liposarcoma?
lipoblas
123
Rhabdomyoma
benign tumor of skeletal muscle
124
What is cardiac rhabdomyoma associated with?
tuberous sclerosis
125
Rhabdomyosarcoma
malignant tumor of skeletal muscle; most common soft tissue tumor in CHILDREN
126
What is the characteristic cell of rhabdomyosarcoma? What does it stain for?
rhabdomyoblast; desmin postive
127
What is the most common site for rhabdomyosarcoma?
head and neck; vagina classic site in young girls

Abbey MSII Unit 1 pt 2 (21 decks)

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