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***MS 2 Unit 1 Pathology > Musculoskeletal Pathology > Flashcards

Musculoskeletal Pathology Flashcards

1
Q

Achondroplasia

A

sporatic activating mutation in <b>FGFR3</b> causes impaired cartilage proliferation in growth plate leading to short limbs

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2
Q

Two mechanisms by which bone can form:

A
  1. <b>intramembranous</b> (CT matrix)

2. <b>endochondral</b> (cartilage calcifies/dies and bone grows)

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3
Q

Osteogenesis Imperfecta

A

AD <b>defect in collagen type I synthesis </b> affecting bone formation causing fractures, blue sclera and hearing loss

*<b>blue sclera</b> is due to exposure of choroidal veins from lack of collagen in eye

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4
Q

Osteopetrosis (cause, symptoms, treatment)

A

<b>carbonic anhydrase II mutation</b>–> lack of acidic environment–> poor osteoclast function (resorption)–> causing abnormally thick bones–> prone to fracturing

  • <b>fractures, anemia, thrombocytopenia, leukopenia, vision/hearing impairment (CN compression), hydrocephalus, renal tubular acidosis</b>
  • Treatment: <b>bone marrow transplant</b> to enhance ability ot make monocytes/osteoclasts
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5
Q

Rickets/Osteomalacia

A

defective osteoid mineralization due to vitamin D deficiency

<b>Rickets</b>: in children leading to pigeon breast deformity, frontal bossing, rachitic rosary (joint knobs), bowing of legs

<b>Osteomalacia</b>: in adults leading to fractures (<b>decreased serum Ca2+ and P; increased PTH and alkaline phosphatase</b>)

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6
Q

Osteoporosis (definition, risks, forms, treatment)

A

loss of <b>trabecular</b> bone mass causing porous bones, pain and fractures (i.e. compression fractures) but serum Ca2+, P, PTH and alkaline phosphatase are normal

  • <b>Risks</b>: peak bone mass and rate of bone loss thereafter
  • Forms: senile and postmenopausal

*Treatment: <b>bisphosphonates (osteoclast apoptosis)</b>

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7
Q

Paget Disease of Bone/Osteitis Deformans) (definition, features, treatment, complications)

A

<b>localized</b> osteoclast and osteoblast imbalance (possibly due to paramyxovirus infection of osteoclasts) causing the formation of thick sclerotic bone that fractures easily

  • Features: pain, increased hat size, hearing loss, <b>lion like facies, increased alkaline phosphatase</b>
  • Treatment: bisphosphonates and calcitonin
  • Complications: <b>high output cardiac failure and osteosarcoma</b>
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8
Q

Osteomyelitis (types)

A

bacterial infection of bone and marrow space that spreads through blood causing by sepsis

  • metaphysis in kids; epiphysis in adults
  • <b>lytic focus (necrosis) surrounded by sclerosis on xray</b>
  1. In sickle cell: dysfunctional spleen cannot remove Salmonella from blood
  2. Tuberculous: targets vertebral column
  3. Pseudomonas aeruginosa- when foot is punctured
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9
Q

Avascular (Aseptic) Necrosis

A

ischemic necrosis of bone and marrow due to decreased blood supply from <b>trauma/fracture, steroids, sickle cell (vasoocclusive), or Caisson Disease (fat embolism which occludes microcirculation in bone)</b>

*common site: femoral head and condyle

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10
Q

Osteoma

A

benign tumor on surface of facial bones

*associated with Gardner Syndrome (polyps in colon)

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11
Q

Osteoid Osteoma

A

benign tumors of osteoblasts surrounded by <b>rim of reactive bone in cortex of long bones in which pain resolves with aspirin</b>

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12
Q

Osteoid Osteoma vs. Osteoblastoma

A

<b>Osteoid Osteoma</b>: small tumor, arises in cortex of long bones, pain responds to aspirin

<b>Osteoblastoma</b>: large tumor, arises in vertebrae, does not respond to aspirin

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13
Q

Osteochondroma

A

lateral projection of growth plate (bone tumor) with cartilage cap

*<b>overlying cartilage can transform to chondrosarcoma</b>

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14
Q

Osteosarcoma (definition and risk factors)

A

malignant proliferation of osteoblasts that takes off bone periosteum (CT that surrounds bone and helps it form new layers) in <b>metaphysis of distal femur or proximal tibia</b>

*Risk factosr: <b>familial Rb, Paget disease, radiation exposure</b>

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15
Q

Giant Cell Tumor

A

the only <b>epiphysis bone tumor</b> occurring in distal femur or proximal tibia composed of <b>multinucleated giant cells and stromal cells</b>

*<b>“soap-bubble” appearance on xray</b></b>

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16
Q

Ewing Sarcoma

A

malignant proliferation of poorly-differentiated cells <b>derived from neuroectoderm in diaphysis of long bones in male children</b>

  • <b>“onion skin”</b> appearance on xray
  • 11.22 translocation
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17
Q

Cartilage tumors

A

benign–> <b>Chondroma</b> affecting medulla of small bones in hands and feet

malignant–> <b>Chondrosarcoma</b> affecting medulla in central pelvis and skeleton

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18
Q

Dermatomyositis (definition, labs, treatment)

A

inflammatory disorder of skin and skeletal muscle causing: weakness <b>heliotrope and malar rashes and red papules on joints</b>

  • (<b>derimysial inflammation with CD4+ T-cells and perifasicular atrophy</b>)
  • <b>Labs</b>: increased creatinine kinase, + ANA and anti-Jo1 Ab
  • Treatment: corticosteroids
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19
Q

Polymyositis

A

inflammatory disorder of skeletal muscle (<b>endomysial inflammation with CD8+ T-cells and necrotic muscle fibers)</b>

20
Q

X-Linked Muscular Dystrophy

A

deletion of dystrophin causes muscle wasting and replacement to fat (often involves myocardium)

*<b>calf pseudohypertrophy and increased creatinine kinase</b>

21
Q

Adipose tissue tumors

A

<b>Lipoma</b>: benign

<b>Liposarcoma</b>: malignant; characteristic cell is <b>lipoblast</b>

22
Q

Skeletal muscle tumors

A

<b>Rhabdomyoma</b>: benign; cardiac rhabdomyoma is associated with tuberous sclerosis

<b>Rhabdomyosarcoma</b> malignant, desmin + and commonly found in head, neck and vagina; characteristic cell is rhabomyoblast

23
Q

Solid vs. Synovial Joints

A

<b>solid</b>- tightly connected for structural strength

<b>synovial</b>- space to allow for motion and contains synovia/hyaluronic acid

24
Q

Degenerative Joint Disease (definition, what it affects, risk factors)

A

progressive articular cartilage degeneration affecting <b>hip, lower lumbar spine, knees, DIP and PIP (in fingers)</b> associated with <b>morning stiffness that gets worse</b>

  • Risk factors: age, obesity, trauma
  • <b>eburnation of subchondral bone and osteophyte formation</b>
25
Q

What disorders affect the DIP?

A

<b>Degenerative Joint Disease</b> and <b>Psoriatic Arthritis</b>

26
Q

Rheumatoid Arthritis (definition, symptoms, joints involve, complications, pannus)

A

joint space narrowing causing loss of cartilage (PIP, wrists, elbows, knees, ankles) that is chronic, systemic, autoimmune, involves <b>HLA-DR4</b>, and is characterized by <b>morning stiffness that gets worse</b>

  • nodules, vasculitis, pleural effusions, LAD, interstitial lung fibrosis, Baker cyst, Swan neck deformity, Boutonniere deformity
  • <b>Complications: secondary amyloidosis</b>

<i>pannus forms- granulation tissue within synovial tissue to release cytokines that destroy the articular cartilage </i>

27
Q

Baker Cyst

A

swelling of semimembranous or other synovial bursa behind knee joint and occurs in Rheumatoid Arthritis

28
Q

Seronegative Spondyloarthropathies

A

<b>lack of rheumatoid factor, HLA-B27 association and involves the axial skeleton</b>

29
Q

Ankylosing Spondyloarthritis

A

involves sacroiliac joints and involves vertebral spine eventually leading to its fusion

  • occurs primarily in <b>young males</b>
  • uveitis (blurry vision) and aortitis (weak wall, aortic regurgitation
30
Q

Reiter Syndrome (definition, when most likely to occur)

A

“can’t see, can’t pee, can’t climb a tree”
<b>conjunctivitis, urethritis, arthritis</b>

*in young male adult weeks after GI or C. trachomatis infection

31
Q

Psoriatic Arthritis

A

affects axial and peripheral joints (including DIP of hands and feet)

32
Q

Infectious Arthritis

A

bacterial infection caused by<b>S. aureus (young adults) or N. gonorrhoeae (older children and adults)</b> leading to a warm, erythematous joint with limited range of motion

*fever, increased WBC, increased ESR (measures inflammation)

33
Q

Gout (definition, types)

A

MSU crystal deposition in tissues from hyperuricemia causing <b>yellow needle shaped crystals with negative birefringence</b>

Types:

  1. <b>Primary</b>: HGPRT deficiency
  2. <b>Secondary</b>: underexcretion or overproduction of uric acid due to leukemia, Lesch-Nyhan Syndrome, renal insufficiency
  3. <b>Acute</b>:podagra (painful great toe), triggered by alcohol and red meat consumption
  4. <b>Chronic</b>: tophi (uric acid crystals in soft tissue of joints), renal failure
34
Q

HGPRT

A

salvages HX and guanine to decrease xantine and urinc acid (UA)

35
Q

Pseudogout

A

Ca2+ pyrophosphate deposition causing <b>blue rhomboid-shaped crystals with weak positive birefringence</b>

36
Q

Role of estrogen in maintaining bone mass

A

it enhances osteoblastic activity and inhibits osteoclastic activity by <b>inhibiting the secretion of cytokines</b> that help in osteoclastogenesis

37
Q

Osteochondrosis ( & a variant of it)

A

avascular necrosis of ossification centers (epiphyses) in children

*variant= osteochondritis dissecans (limited to articular epiphysis- commonly the knee)

38
Q

Osgood-Schlatter disease

A

swelling of tibial tuberosity that has no effect on bone growth

39
Q

Fibrous Dysplasia

A

replacement of medullary bone by fibrous tissue due to defect in osteoblastic differentiation/maturation

40
Q

Osteoarthritis

A

progressive degeneration of articular cartilage due to the activation of metalloproteinases by cytokines which degrades its components: proteoglycans (elasticity) and type II collagen (tensile strength)

  • reactive bone formation and subchondral cysts
  • Heberden nodes (DIP enlargements) and Bouchard nodes (PIP enlargement)
41
Q

Neuropathic Arthropathy (Charcot Joint)

A

noninflammatory joint disease that is secondary to a neurologic disease (DM, syringomyelia, tabes dorsalis)

*<b>loss of proprioception and deep pain sensation leading to recurrent trauma</b>

42
Q

Rheumatoid Factor (RF) ( & what it binds to)

A

IgM autoantibody that has specificity for the Fc portion of IgG

*RF binds IgG forming immunocomplexes that activate the complement system to produce C5a for neutrophils and leukocytes to enter space

43
Q

Caplan syndrome

A

rheumatoid nodules in lung plus pneumoconiosis

44
Q

Sjogren syndrome

A

autoimmune destruction of salivary glands and lacrimal glands

*can be seen in Rheumatoid arthritis

45
Q

L. Septic Arthritis

A

due to: S. aureus, N. gonorrhoeae or Lyme disease

causes: localized infection, fever/flu-like symptoms, (2/3 proceed to:) early disseminated disease, chronic disease (disabling arthritis)

46
Q

Type I vs. Type II muscle fibers:

A

<b>Type I</b>: red, slow twitch, do not fatigue easily, rich in mitochondria, poor in ATPase enzymes

<b>Type II</b>: white, fast twitch, fatigues easily, poor in mitochondria, rich in ATPase enzymes

47
Q

Trichinella spiralis infection (definition, complications)

A

causes muscle pain from eating undercooked pork

*complications: myocarditis, encephalitis

***MS 2 Unit 1 Pathology (3 decks)

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