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2nd U1 Path > Robbins Ch 26 bone > Flashcards

Robbins Ch 26 bone Flashcards

1
Q

What occurs when there is an increased osteoprotegerin (OPG) binding to RANK ligand?

A

Decreased osteoclast activity

OPG binds RANK ligand which reduces the nuclear factor Kappa B transcription factor–diminishes osteoclast activity

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2
Q

What pathway increases OPG production and what does this favor?

A

WNT/B-catenin pathway–favors bone formation

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3
Q

What is generated from osteoclasts that promote bone resorption?

A

Matrix metalloproteinases

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4
Q

Result of a spontaneous new mutation in the fibroblast growth factor receptor 3 (FGFR3) gene leading to abnormal cartilage proliferation at growth plates and affecting endochondral bone growth…

A

Achondroplasia

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5
Q

What are the features of achondroplasia?

A

Infants torso and head are normal size
Extremities are short
Prominent forehead

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6
Q

What is seen on an XRAY of a patient with achondroplasia?

A

Shirt, slightly bowed long bones with NO osteopenia

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7
Q

May manifest at birth with multiple fractures from severe osteopenia and is due to abnormal type I collagen synthesis…

A

Osteogenesis imperfecta

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8
Q

What is seen with osteogenesis imperfect?

A

Osteopenia–predisposing to fractures
Blue sclerae
Dental abnormalities
Progressive hearing loss

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9
Q

May occur in childhood from a Vitamin D deficiency or decreased absorption of Vitamin D in the small intestine…

A

Rickets

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10
Q

What is the most common form of lethal dwarfism that results from a mutation in FGFR3 gene?

A

Thanatophoric dysplasia

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11
Q

Infants born with thanatophoric dysplasia often present with immediate respiratory distress, why?

A

Due to the markedly reduced thoracic size–leads to pulmonary hypoplasia

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12
Q

What are the characteristic findings of thanatophoric dysplasia?

A 
Infant presents with immediate respiratory distress
Short limbs
Frontal skull bossing
Small thorax
Normal bone density without fractures
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13
Q

What syndrome is caused by the absence of HGPRT and is characterized by hyperuricemia?

A

Lesch-Nyhan syndrome

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14
Q

A decreased binding of what occurs in osteoporosis?

A

Decreased binding of osteoprotegerin (OPG) to the macrophage RANK ligand–leading to increased osteoclast activity

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15
Q

Ability of osteoblasts to divide and lay down osteoid is reduced and osteoblasts produce less OPG leading to accelerated bone loss. These are characteristics of what dz?

A

Osteoporosis

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16
Q

What characterizes postmenopausal osteoporosis?

A

Hormone-dependent acceleration of bone loss

Estrogen deficiency–> increased secretion of IL-1, 6 and TNFa

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17
Q

Estrogen deficiency seen in postmenopausal women leads to an increased secretion of IL-1 and 6 and TNFa. What does this increase and what does it decrease?

A

Increases the levels of RANK and RANKL

Decreases levels of OPG

Leading to increased osteoclastic activity and accelerated bone loss

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18
Q

The production of IL-6 from osteoblasts is seen in what disease?

A

Paget disease of the bone

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19
Q

What is seen on autopsy of a stillborn with evidence of type II lethal variant of osteogenesis imperfecta and what causes these findings? Also what mutation is seen with this disorder?

A

Marked osteopenia and multiple bone fractures caused by a deficiency in collagen I formation

COL1A1 mutation

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20
Q

What mutation is seen in cases of hereditary and sporadic osteochondromas?

A

EXT mutations

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21
Q

What mutation is seen in cases of achondrogenesis and how is it differentiated from osteogenesis imperfecta?

A

FGFR3 mutation

There is NO osteopenia or bone fractures at birth

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22
Q

Rare bone dz that results from mutations in genes that regulate osteoclast activity and bone resorption…

A

Osteopetrosis (albers-Schonberg dz)

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23
Q

There is a defect in the production in an enzyme seen in osteopetrosis, what is this enzyme?

A

Carbonic anhydrase

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24
Q

What are some physical findings seen with osteopetrosis (albers-schonderb dz)?

A

hepatosplenomegaly–due to marrow reduction

Palsies involving cranial nerves II, VII, VIII due to nerve compression in narrowed bony foramina

Pancytopenia

Difusely and symmetrically sclerotic bones–due to poorly formed metaphyses

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25
Q

The use of corticosteroids increases the risk of..

A

Developing Cushing syndrome with osteoporosis

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26
Q

What does corticosteroid use stimulate?

A

RANKL expression which inhibits osteoblast osteoprotegerin (OPG) synthesis–enhancing osteoclast proliferation-promoting bone resorption

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27
Q

What disease presents with a mosaic pattern of lamellar bone and has 3 phases–lytic, mixed, and sclerotic “burnt out” phases.

A

Paget disease of bone

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28
Q

What is the common presentation seen with Paget dz of bone?

A 
Bone pain
Reduced ROM
No tenderness or swelling on palpation
Sclerotic, thicked cortical bone with narrowed joint space on XRAY
Mosaic pattern of lamellar bone
has to buy larger hats
loss of normal trabeculae
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29
Q

What are the 3 phases of Paget dz of bone?

A

Lytic phase
Mixed phase–osteosclerosis and osteolysis
Sclerotic “burnt out” phase

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30
Q

What bone disorder is seen in hyperparathyroidism?

A

Osteitis fibrosa cystica

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31
Q

Tumorlike projection of bone capped by cartilage protruding from the metaphyseal region of a long bone…

A

Osteochondroma

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32
Q

What gene mutations are seen in both hereditary and sporadic osteochondromas?

A

Loss of heterozygosity in EXT1 or EXT2 genes

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33
Q

Results in osteopenia from Vitamin D deficiency in an adult

A

Osteomalacia

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34
Q

Sporadic and genetic paget dz of bone have what mutation?

A

SQSTM1 mutation

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35
Q

What is elevated in the serum with a parathyroid adenoma?

A

Calcium

Phosphate

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36
Q

What activity increases with a parathyroid adenomas?

A

Increased secretion of PTH–leads to increased osteoclastic resorption of bone

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37
Q

What is the brown tumor of bone seen with parathyroid adenomas?

A

Microfracture–leading to hemorrhages and influx of macrophages–cystic lesion forms

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38
Q

What is contained within a brown tumor of bone caused by a parathyroid adenoma?

A

Osteoclasts and fibroblasts

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39
Q

Where does a giant cell tumor of bone occur and what does it contain?

A

occurs in epiphysis of bone and contains plump stream cells NOT fibroblast (like a brown tumor of bone-caused by microfractures)

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40
Q

Patients with a parathyroid adenoma who develop a brown tumor of bone caused by microfractures presents…

A

With chronic pain
can have a hx of urinary tract calculus
There is swelling in diaphysis of bone–without erosion of the cortex or soft-tissue mass
Increased osteoclasts and fibroblast proliferation

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41
Q

Bone is splintered into fragments…

A

Comminuted bone fracture

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42
Q

Fracture penetrates the skin…

A

Compound bone fracture

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43
Q

Nonaligned bone, possibly resulting in some deformity

A

Displaced bone fracture

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44
Q

Fracture where bone remains contiguous–does not extend completely across the shaft of the bone

A

Incomplete fracture

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45
Q

Fracture occurring in a location weakened by a preexisting dz…

A

Pathologic fracture

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46
Q

What are the underlying conditions that can lead to avascular necrosis of bone (osteonecrosis)?

A 
Hemoglobinopathies (sickle cell dz)
Fracture
Barotrauma
Hypercoagulable states
Hyperlipidemia
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47
Q

What therapy can lead to avascular necrosis of bone (osteonecrosis)?

A

Glucocorticoid therapy–decreases osteoblastogenesis

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48
Q

What is seen on imaging when a patient presents with avascular necrosis of bone?

A

patchy radiolucency and densities within the bone

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49
Q

What is the most common site for avascular necrosis to occur?

A

Femoral head

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50
Q

Benign tumor of hyaline cartilage arising in the medullary space of young adults…

A

Enchondroma

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51
Q

How does enchodroma present and what causes it?

A

Pain with use of the joint and tenderness upon palpation

Caused by chondrocytes

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52
Q

What is the most common cause of pyogenic osteomyelitis?

A

Staphylococcus aureus

53
Q

How does Pyogenic osteomyelitis present?

A

Seen in younger children
Elevated temp
Swelling with tenderness, pain and reduced ROM in affect area
Areas of osteolysis and comical erosion involving the metaphysis
Abscess formation

54
Q

What is the sequence of events for the development of chronic osteomyelitis?

A

Compound fracture
Becomes infected
Inadequate subsequent care leading to the osteomyelitis

Patient has continued pain after some time

55
Q

What is seen on X-ray in patients with chronic osteomyelitis and what is causing these two findings?

A

Sequestrum–infection of bone and associated vascular compromise causing necrosis

Involurcrum–shell of reactive new bone formed around dead bone

56
Q

What is the hallmark for tuberculous osteomyelitis?

A

Destructive lesion in vertebrae with extension of dz along the posts muscle WITHOUT any signs of acute inflammation

57
Q

Results from hematogenous spread of an infection in the lung. Long bones and vertebrae are the favored sites…

A

Tuberculosis of bone–osteomyelitis

58
Q

Benign tumor of the bone with a central nidus of woven bone and sclerotic rim…

A

Osteoid osteoma

59
Q

Young patient presents with severe pain that is relived with aspirin. XRAY shoes a well-defined lucent area surrounded by thin rim of bony sclerosis. Dx?

A

Osteoid osteoma

60
Q

The activity of what is increased with an osteoid osteoma?

A

Osteoblast activity

61
Q

Benign tumor of hyaline cartilage that arises in the medullary space in young adults?

A

Enchondroma

62
Q

Localized area of developmental arrest of bone formation?

A

Fibrous dysplasia

63
Q

Benign, locally aggressive lesion that arises in the epiphysis of long bones in young adults and has a “soap bubble” appearance on XRAY?

A

Giant cell tumor

64
Q

What is the histological appearance of a giant cell tumor of bone?

A

Multinucleate cells in a storm predominantly composed of spindle-shaped mononuclear cells

65
Q

A large, destructive lytic and plastic mass arising in the metaphysical region of the distal femur and extending into the surround soft tissue?

A

Osteosarcoma

66
Q

What can call attention to an osteosarcoma?

A

trauma

67
Q

What mutation is seen in individuals who develop osteosarcoma?

A

Sporadic cases–loss of both alleles of RB1

Familial cases–lost of just one allele of RB1

68
Q

Ill-defined mass seen on XRAY involving the metaphysical area with elevation of adjacent periosteum?

A

Osteosarcoma

69
Q

A biopsy is performed on a tumor located above the knee. It showed hyper chromatic, pleomorphic spindle cells forming an osteoid matrix. Dx?

A

Osteosarcoma

70
Q

What are the two most common malignant bone tumors in children and what region of the bone do each usually arise from?

A

Osteosarcoma–arise in the metaphyseal region

Ewing sarcoma– arise in the diaphyseal region of long tubular bone

71
Q

Young child presents with femoral bone pain with no hx of trauma or recent illness. On PE the affected area is warm and tender to palpation, fever and leukocytosis present. XRAY shows expansile mass in diaphyseal region extending into the soft tissue covered by layers of reactive bone. Histology shows sheets of closely packed primitive cells with small, uniform nuclei and scant cytoplasm. Dx?

A

Ewing sarcoma

72
Q

What translocation is present in 85% of ewing sarcomas?

A

T(11;22)–giving rise to the EWS-FLI1 fusion gene

73
Q

Focal lytic lesion within bone with recognizable plasma cells on histology?

A

Plasmacytoma

74
Q

A benign tumor like condition that can weaken the bone to the point of pathologic fractures?

A

Fibrous dysplasia

75
Q

Woven bone is middle of benign-looking fibroblasts–mostly occurs in ribs, femur, tibia, mandible, and calvaria?

A

Fibrous dysplasia

76
Q

Patient presents with femur pain after recent fall while playing football. There is pain on palpation. A diaphysial lesion with central lucency and a thin sclerotic rim is discovered. The lesion is completely intramedullary and is well circumscribed. Biopsy shows scattered trabecular of woven bone in background of fibroblastic proliferation. Dx?

A

Fibrous dysplasia

77
Q

The serum level of what substance raises the suspicion of bone mets in older adults, particularly when there is a pathologic fracture resulting from a bone lesion?

A

Alkaline phosphatase level

78
Q

What are the primary sites where metastatic bone carcinoma can occur from?

A 
Breast
Prostate
Lung
Kidney
Thyroid
79
Q

A patient presents with increasing dull/constant bone pain in multiple locations. There is intense pain upon palpation. XRAY shows lytic area extending through entire thickness of bone. The patients alkaline phosphatase is elevated. Dx?

A

Metastatic bone carcinoma

80
Q

Minimal joint stiffness in the morning that quickly subsides is characteristic of what disorder?

A

Osteoarthritis

81
Q

Progressive involvement of large, weight-bearing joints and osteophytes in the interphalangeal joints in the elderly. This is a multifactorial dz in which genetic predisposition and biomechanics forces affect chondrocytes.

A

Osteoarthritis

82
Q

A dz that is typically associated with symmetric involvement of small joints of the hands and feet. involves the infiltration of the synovium with CD4+ t-cells.

A

Rheumatoid arthritis

83
Q

What are the features of chronic rheumatoid arthritis?

A

Bilateral symmetric involvement of joints
destruction of joints with characteristic deformities
Presences of rheumatoid nodules

84
Q

What creates the pannus seen in rheumatoid arthritis and what does this eventually lead to?

A

Inflammatory cytokines–move into joint and eventually cause joint destruction

85
Q

What is the treatment used for patient with chronic rheumatoid arthritis?

A

Anti-TNF agents

86
Q

Rheumatoid arthritis patients are positive for?

A

Rheumatoid factor

Cyclic citrullinated peptides (CCPs)–which my indicate chronicity of dz

87
Q

What is bisphosphonates treatment used for and how does it work?

A

Used to diminish osteoclast activity–treating conditions with bone loss

88
Q

With respect to serology performed on patients with Juvenile rheumatoid arthritis, what is usually + and what is -?

A

rhumatoid factor negative

ANA positive

89
Q

What is different with Juvenile rheumatoid arthritis when comparing it to adult RA?

A

More likely to have systemic manifestations

  • Rash
  • Myalgia
  • Myocarditis
  • Pericarditis
  • Uveitis
  • Glomerulonephritis
90
Q

What disease is + for barrel burgodorferi and what is this associated with?

A

Lyme dz associated with migratory arthritis of large joints

91
Q

What is the agent that produces the nongonococcal urethritis seen with reactive arthritis?

A

Chlamydia trachomatis

92
Q

What joint is most commonly involved with a chlamydia trachmoatis infection?

A

Sacroiliac joint–like spondyloarthropathies

93
Q

This disorder has a very strong association with HLA-B27, involves the lower back and pelvis and has a characteristic bamboo spine Xray..

A

Ankylosing spondyloarthritis

94
Q

What are the extra-articular manifestations seen with ankylosing spondyloarthritis?

A

Anterior uveitis and aortitis

95
Q

What is seen on XRAY in ankylosing spondyloarthritis?

A

loss of lumbar lordosis
narrowing with sclerosis of sacroiliac joints bilaterally
syndesmophyte formation at junction of vertebra
annulus fibrous of intervertebral discs

96
Q

Name the seronegative spondyloarthropathies…

A

Ankylosing spondylitis
Reactive arthritis
Psoriatic arthritis
Eneropathic arthritis

97
Q

What are the 4 common features of all the seronegative spondyloarthropathies?

A

Strong association with HLA-B27
Negative test result for rheumatoid factor
Infection-leading to back pain with recurrence after several months
Stiffness of lumbar spine and tenderness of the sacroiliac joints

98
Q

What is the major difference btw Psoriasis with psoriatic arthritis and rheumatoid arthritis?

A

Psoriatic arthritis–does NOT have significant joint destruction

99
Q

Patient presents with long standing history of silvery/salmon-colored skins lesions on elbows, knees, scalp and lubosacral area. Patient has unilateral increasing pain in joint areas. There is minimal reduction in mobility and NO swelling or warmth to the touch. There is minimal joint space narrowing and surface erosion. Dx?

A

Psoriatic arthritis

100
Q

What is seen on the biopsy of a patient with psoriatic arthritis?

A

Epidermal thinning with hyperkeratosis and parakeratosis

101
Q

Patients with sickle cell anemia are more likely to develop osteomyelitis due to what infectious agent?

A

Salmonella

102
Q

Neonates who present with osteomyelitis most likely developed it from what infectious agent?

A

Group B strep

103
Q

Chronic arthritis that tends to be remitting and migratory involving primarily that large joints and can cause extensive bony erosion if it becomes chronic is caused by what dz?

A

Lyme dz–borrelia burgdorferi

104
Q

Sexually active young adults are most likely to develop suppurative arthritis from what infectious agent?

A

N. Gonorrhoeae

105
Q

What usually occurs a few days before acute suppurative arthritis caused by N. Gonorrhoeae?

A

Urethritis

106
Q

What is seen on PE and on biopsy with acute suppurative arthritis caused by N. Gonorrhoeae?

A

Swollen, warm and tender joint(s)

Biopsy–gram negative intracellular diplocoocus

107
Q

Acute inflammation of the first MP joint caused by precipitation of needle-shaped negatively birefringent uric acid crystals in the joint space?

A

Gout

108
Q

What is the first line of therapy for gout?

A

NSAIDs

109
Q

What is seen on PE with Gout?

A

tenderness swelling and erythema of most commonly the first metatarsophalangeal joint

110
Q

Precipitation of urate crystals into the joints producing an acute inflammatory reaction where neutrophils and and monocytes are found. If large enough it can erode the overlying skin

A

Gouty tophus

111
Q

What are leukemia patients (especially patients with CML) who are treated with chemo at an increased risk of developing?

A

Secondary gout–chemo causes massive lysis of leukemic cell nuclei–produces large amounts of urate

112
Q

Caused by deposition of calcium pyrophosphate dehydrate into joints?

A

Pseudogout

113
Q

Pseudogout is most often seen secondary to what dz?

A

Hemochromatosis- causing skin pigmentation, HF, DM, Cirrhosis

114
Q

What is seen on birefringent stains when its pseudo gout?

A

Blue–rhomdoidal calcium pyrophosphate crystals

115
Q

A thin walled and clear structure with mucoid content that arises in the connective tissue of a joint capsule or tendon sheath?

A

Ganglion cyst

116
Q

What is the most common site for a ganglion cyst to develop?

A

Extensor surfaces of the hands and feet–especially the wrist

117
Q

What is the most common soft tissue tumor of the hand (that can also occur in the knee). Has translocation of coding sequence for M-CSF placed adjacent to promotor of the collagen COL6A3 gene. Its a benign lesion, but can be locally aggressive and extend into adjacent bone and soft tissue?

A

Tenosynovial giant cell tumor (pigmented villonodular synovitis)

118
Q

What is seen on histology of a tenosynovial giant cell tumor?

A

synoviocyte-like tumor cells in a hyalinized storm contain osteoclast-like giant cells and hemosiderin

119
Q

Benign soft-tissue neoplasm that is composed of mature adipocytes?

A

Lipoma

120
Q

Tumor located in deep soft tissues, can be indolent, and can reach a large size. Its the most common sarcoma of adulthood?

A

Liposarcoma

121
Q

What is the presentation for a liposarcoma

A

Dull, constant pain that worsens with movement

Is a deep solid mass with ill-defined soft-tissue

122
Q

What is the karyotype translocation occurs with a liposarcoma and what gene amplification is seen?

A

Karyotype– t (12;16)(q13;p11)

Amplification of MDM2 gene

123
Q

Reactive fibroblastic proliferation seen in the upper extremities and trunk of young adults. Sometimes occurs after trauma?

A

Nodular fasciitis

124
Q

Hard-cord like lesion containing mature fibroblasts surrounded by dense collagen–lesion know as a dupuytren contracture?

A

Superficial fibromatosis

125
Q

Most common sarcoma in children marked with antibody to vimentin?

A

Rhabdomyosarcoma

126
Q

What is the histological appearance of a rhabdomyosarcoma?

A

Spindle-shaped markedly pleomorphic cells with pink cytoplasm

127
Q

A well-circumscribed mass with a biphastic pattern of spindle cells and epithelial cells forming glands found around a joint or within deep soft tissues without bony erosion.

A

Synovial sarcoma

128
Q

What is the translocation that occurs in most synovial sarcomas?

A

t(X;18)

2nd U1 Path (6 decks)

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