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Pathology > MSK Disease > Flashcards

MSK Disease Flashcards

1
Q

Pathologic fractures, blue sclera, deafness

A

Osteogenesis imperfecta

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2
Q

Defective synthesis of type I collagen

A

Osteogenesis imperfecta

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3
Q

Treatment of Osteogenesis imperfecta

A

Bisphosphonates to increase bone mineralization

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4
Q

Activating mutation in FGFR3 gene

A

Achondroplasia

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5
Q

Impaired proliferation at growth plate of long bones

A

Achondroplasia

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6
Q

Shortened arms and legs but normal growth hormone and insulin-like growth factor 1 levels

A

Achondroplasia

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7
Q

Carbonic anhydrase II mutation

A

Osteopetrosis

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8
Q

Pancytopenia due to replacement of marrow cavity

A

Osteopetrosis

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9
Q

Extramedullary hematopoiesis, visual/hearing loss, pathologic fractures

A

Osteopetrosis

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10
Q

Cranial nerve compression, palsies due to narrowing foramina

A

Osteopetrosis

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11
Q

infection of bone at metaphysis secondary to sepsis

A

Osteomyelitis

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12
Q

90% of the cases of osteomyelitis are caused by

A

Staphylococcus aureus

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13
Q

Osteomyelitis in sickle cell dz patients is caused by

A

Salmonella paratyphi

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14
Q

Hematogenous spread from a primary lung focus

A

Tuberculous osteomyleitis

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15
Q

Type of tuberculosis that has spread outside the lung and involves the vertebral column

A

Pott Disease

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16
Q

Devitalized bone is called

A

sequestra

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17
Q

What is the reactive bone formation in the periosteum due to chronic disease called?

A

Involucrum

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18
Q

Draining sinus tracts to the skin increases the risk for?

A

Squamous cell carcinoma

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19
Q

common metabolic abnormality of the bone in which there is a loss of both organic bone matrix (osteoid) and mineralized bone) leading to decreased bone mass and density

A

Osteoporosis

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20
Q

Radiograph shows a washed-out appearance of the bone

A

Osteoporosis

washed-out = osteopenia

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21
Q

Describe the pathogenesis of postmenopausal osteoporosis

A

Estrogen normally enhances osteoblastic activity by inhibiting cytokines that modulate osteoclastogenesis.

Estrogen decreases during menopause. Increased secretion of cytokines that modulate osteoclastogenesis through expression of RANKL and RANK genes. Estrogen deficiency inhibits expression of OPG, receptor produced by osteoblasts that inhibits RANKL/RANK interaction.

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22
Q

Pt complains of decrease in height

A

Osteoporosis

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23
Q

Prevention of osteoporosis involves? (3x)

A
  1. calcium and vitamin D supplements
  2. stop smoking (bc smoking inhibits osteoblast activity)
  3. Perform weight-bearing exercise that stresses bones
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24
Q

Interruption of blood supply caused cellular death of bone components

A

Avascular Necrosis (AVN)

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25
Q

Causes of AVN are? (5x)

A
  1. corticosteroids
  2. fat embolism (s/p trauma to long bone)
  3. Alcohol
  4. Idiopathic
  5. Fractures
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26
Q

Imbalance in osteoblast and osteoclast action involving a 50+ y/o M with possible paramyxovirus infection of osteoclasts.

A

Paget disease (osteitis deformans)

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27
Q

Shaggy-appearing lytic lesions

A

early phase of osteoclastic resorption of bone in Paget disease

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28
Q

Late phase of Paget disease is defined by?

A

increased osteoblastic bone formation

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29
Q

Two main pathopneumonic findings in Paget disease?

A
  1. markedly increased alkaline phosphatase (ALP) (released by osteoclasts)
  2. production of thick, weak bone (mosaic bone)
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30
Q

Pt comes in with bone pain, headaches, occasional hearing loss, and c/o increased hat size. What is your primary dx?

A

Paget Disease

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31
Q

3 complication of Paget disease are?

A
  1. pathologic fractures
  2. risk for developing osteogenic sarcomas
  3. heart failure due to arteriovenous connections in vascular bone
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32
Q

Radiograph shows thickened bone with shaggy areas of radiolucency. Bone scan show “hot spots”. Elevated serum ALP. Nml serum calcium and phosphorus.

A

Paget disease

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33
Q

Skeletal developmental anomaly in which there is a defect in osteoblastic differentiation/maturation leading to replacement of medullary bone with fibrous tissue.

A

Fibrous dysplasia

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34
Q

Pt presents with dark colored spots on her body. Radiographic imaging shows medullary dilation of her hands, tibia, femur, facial bones, and ribs. The imaging is definitely abnormal because the bones appear hazy compared to a normal image of bone. Pt has a hx of a precocious sexual development. What is your diagnosis?

A

Albright syndrome

=

Cafe au lait spots + polystotic fibrous dysplasia + precocious sexual development

35
Q

What are clinical findings of fibrous dysplasia? Microscopic? Complications?

A

Clinical findings: pain and swelling over underylying bone

Microscopic: Chinese-letter like arrangement of trabeculae

Complications: risk for a pathologic fx, malignant degeneration (osteogenic sarcoma, fibrosarcoma)

36
Q

Most metastatic bone disease are describe as ____.

A

lytic - eat away bone

37
Q

What is the only cancer that causes osteoblastic activity at bone (bone formation at dead deposits, bone gets thicker and denser)?

A

Prosthetic carcinoma

38
Q

List the primary malignant tumors of the bone in descending order of frequency.

A

M: multiple myeloma
O: osteogenic sarcoma
C: chondrosarcoma
E: Ewing sarcoma

39
Q

Benign. Exostosis (outgrowth of bone) capped by benign cartilage usually found at the metaphysis of the distal femur.

A

Osteochondroma

slide would should bone capped with purple-pink hyaline cartilage

40
Q

Benign. Solitary or multiple cartilaginous tumor that grows inside of bone. Medullary location usually in small tubular bones in hands and feet.

A

Enchondroma

41
Q

Many enchondromas increases the risk of

A

chondrosarcoma

42
Q

Proliferation of benign bone, primarily located in facial bones. Associated with Gardner syndrome (familial adenomatous polyposis + fibromatosis of the peritoneum)

A

Osteoma

43
Q

Benign. At cortex of proximal femur. radiographic findings show radiolucent focus surrounded by sclerotic bone. Males 10-20.

A

Osteoid osteoma

44
Q

Nocturnal pain relieved by aspirin

A

Osteoid osteoma

45
Q

Benign. Radiographic imagining reveals a radiolucent focus surrounded by sclerotic bone. Usually in vertebra. Nocturnal pain. NOT relieved by aspirin. Males 10-20

A

Osteoblastoma.

46
Q

Benign epiphysis of distal femur or proximal tibia. Reactive multinucleated giant cells that resemble osteoclasts and neoplastic mononuclear cells. Soap bubble appearance of tumor on radiograph. Females 20-40.

A

Giant cell tumor

47
Q

Malignant. Abnormal multinucleated enlarged chondrocytes on microscopy. Pelvic bones, proximal femur. Grade determines biologic behavior. Metastasizes to lungs.

A

Chondrosarcoma

48
Q

Malignant. Males 10-25 with pmhx of paget dz, familiar retinoblastoma, irradiation, fibrous dysplasia. Tumor in metaphysis of distal femur or proximal tibia. Most common primary bone cancer. Malignant osteoid. Radiographic findings include “sunburst” appearance or “Codman triangle”. Possible mets to lungs.

A

Osteogenic sarcoma

sunburst appearance - spiculated pattern from calcified malignant osteoid
codman triangle - tumor pushes periosteum outward forming a triangular shape.

49
Q

Malignant. Males 10-20. Pelvic girdle, diaphysis, and metaphysis of proximal femur or rib. Small, blue, round cell tumor derived from neuroectoderm. Radiographic imaging shows “onion skin” appearance around bone. Possible fever, anemia.

A

Ewing sarcoma

50
Q

Ewing sarcoma is associated with

A

t(11;22) translocation causing fusion of EWS gene of chromosome 22 to FLI1 gene of chromosome 11.

51
Q

progressive degeneration of articular cartilage. targets weight-bearing joints

A

Osteoarthritis

52
Q

Most common disabling joint dz. Noninflammatory. Common sites include femoral head, knee, cervical/lumbar vertebrae, hands. Joint stiffness upon waking up.

A

Osteoarthritis

53
Q

Pathogenesis of osteoarthritis

A

cytokines activate metalloproteinases that degrade proteoglycans and type II collagen present in normal articular cartilage. Cartilage starts to erode. Osteophytes began to irrigate synovium and cause pain/irritation.

proteoglycans provide tensile strength and type II collagen provide elasticity.

54
Q

Given picture: loss of articular cartilage, a subchondral cyst is present, and there is a residual articlar cartilage layer

A

Osteoarthritis

55
Q

Fragments of articular cartilage that break free into joint space

A

joint mice

56
Q

Osteoarthritis involvement in hand causes enlargement of DIP joints is known as

A

Heberden nodes (ostephytes)

57
Q

Osteoarthritis. Enlargement of PIP joints is known as

A

Bouchard nodes

58
Q

Systemic disorder associated with chronic joint inflammation that most commonly affects peripheral joints.

A

Rheumatoid arthritis

59
Q

What is the proposed pathogenic mechanism for rheumatoid arthritis?

A
  1. CD4 + T helper (type IV) are activated leading to release of proinflammatory agents
  2. inflammed synovial cells express an antigen that triggers B cells to produce rheumatoid factor.
  3. RF is an IgM autoantibody that has specificity for the Fc portion of IgG
  4. RF and IgG join to form immunocomplexes (type III hypersensitivity), activate complement, produce C5a - chemotactic for neutrophils and other leuks at joint
  5. chronic synovitis and pannus formation eventually occur. Pannus formation eventually leads to ankylosis
60
Q

What is pannus?

A

a granulation tissue formed within the synovial tissue by fibroblasts and inflammatory cells. releases cytokines and destroy the articular cartilage leading to fusion of the joint by scar tissue (ankylosis). seen in Rheumatoid arthritis.

61
Q

On physical exam you find symmetric involvement of 2nd/3rd MCP and PIP joints along with ulnar deviation. Pt also c/o morning stiffness. What is your dx?

A

Rheumatoid arthritis

62
Q

Define swan neck deformity. Define Boutonniere deformity.

A

Both seen in rheumatoid arthritis

swan neck - flexion at DIP, extension at PIP
Boutonniere - extension at DIP, flexion at PIP

63
Q

Rheumatoid nodules in lung plus pneumoconiosis. Microscopy of nodule shows fibrinoid necrosis in the center of the nodule surrounded by inflammatory cells.

A

Caplan syndrome

64
Q

tissue deposition of monosodium urate (MSU) due to prolonged hyperuricemia

A

Gouty arthritis

65
Q

Primary vs Secondary gout

A

primary: inborn erros of metabolism involving purine metabolism
secondary: deficiency of HGPRT in Lesch-Nyhan syndrome. under excretion of uric acid in kidneys (leads to toxicity - seen with increased consumption of red meat or alcohol). Overproduction of uric acid (increased turnover of DNA/RNA, purines will break down into uric acid. seen in cancer pts receiving treatment)

66
Q

Sudden onset of severe pain in the big toe. It is hot, read, and swollen.

A

Acute gout

67
Q

What is a tophus? With what pathological condition is it associated with?

A

Numerous multinucleated giant cells within MSU crystals that polarize; destroy subjacent bone, causing erosive arthritis. Light pink on microscopy is crystal surrounded by purple giant cells.

seen in chronic gout

68
Q

deposition of calcium pyrophosphate in tissues that leads to increased hemochromatosis or primary HPTH. known as pseudogout.

A

calcium pyrophosphate dihydrate deposition disease (CPPD)

69
Q

What are the 3 causes of septic arthritis discussed in class?

A
  1. Staphylococcus aureus - most common nongonococcal cause
  2. Neisseria gonorrhea - more common in young woman; deficiency of C6-9 predisposes to dissemination
  3. Lyme disease (caused by Borrelia burgodorferi, a spirochete)
70
Q

Erythema migrans on skin that has vesicular red center with red expanding lesion with concentric circle. Fever, flu-like sxs, neck stiffness. migratory polyarthritis evolving into monoarticular.

A

Septic arthritis

71
Q

Nonneoplastic, proliferative connective tissue disorder. Fibrous infiltrations in tissue.

A

Fibromatosis

72
Q

Fibromatosis of palmar fascia that causes constraction of single or multiple fingers. associated with alcoholism, DM, epilepsy.

A

Dupytren contracture

73
Q

Fibromatosis of the anterior abd wall in women, associated with polyposis syndromes or previous trauma. Microscopy shows fibrosis in excess.

A

desmoid tumor

74
Q

Most common benign soft tissue tumor that arises in SC tissue. Usually in trunk, neck, proximal extemeties

A

lipoma

75
Q

Most common adult sarcoma. Lipoblasts identified with fat stains. Usually in thigh or retroperitoneum

A

Liposarcoma

tumor has variegated appearance bc can cause necrosis/hemorrhage

(lipoblast is mutivacuolated, huge nucleus)

76
Q

Soft tissue tumor. Usually in thigh or upper limb. Mary arise after irradiation. Microscopy shoes herringbone pattern of fibrous tissue.

A

Fibrosarcoma

77
Q

A soft tissue tumor usually on lower extremities. Benign, microscopy shows nonencapsulated proliferation of spindle cells confined to dermis. A well-defined red nodule that umbilicates when squeezed.

A

Dermatofibroma

78
Q

A soft tissue tumor usually in retroperitoneum or on thigh. Is associated with radiation and scarring. Microscopy shows spindle cells with a lot of anaplasia, arranged in a “cartwheel” like fashion

A

Malignant fibrous histiocytoma

79
Q

A soft tissue tumor present in heart and also the tongue and vagina. Is benign, associated with tuberous sclerosis

A

Rhabdomyoma

-benign tumor of skeletal muscle cells

80
Q

Soft tissue tumor in penis and vagina. most common sarcoma in children. grape-like, necrotic mass protrudes from penis/vagina

A

Embryonal rhabdomyosarcoma

81
Q

Soft tissue tumor in uterus or stomach most common benign tumor of GI tract.

A

Leiomyoma

82
Q

Soft tissue tumor in GI or uterus. Most common sarcoma of GI tract and uterus. Has a variable surface.

A

Leiomyosarcoma

83
Q

Soft tissue tumor around joints. Does not arise from synovial cells in joints but from mesencyhmal cells around joints. Biphasic pattern: epithelial cells forming glands plus intervening spindle cells

A

Synovial sarcoma

Pathology (3 decks)

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