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MSK II Exam I > Bones, Joints, & Soft Tissue > Flashcards

Bones, Joints, & Soft Tissue Flashcards

1
Q

The adult skeleton is constantly turning over, with 10% of the skeleton being replaced annually.

When is peak bone mass achieved?

A

Early adulthood, after cessation of skeletal growth

By the fourth decade of life, resorption occurs at a greater rate than formation, leading to decreased overall skeletal mass

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2
Q

______ is the receptor activator for NF-kB on osteoclast precursors that, when bound by its ligand, activates transcription factor NF-kB which is essential for the generation and survival of osteoclasts, leading to bone ______

A

RANK; breakdown

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3
Q

RANKL is expressed on ____ and ______ cells

A

Osteoblasts; marrow stromal cells

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4
Q

“Decoy” receptor made by osteoblasts that binds RANKL and prevents its interaction with RANK - thus resulting in continued bone formation

A

OPG (osteoprotegrin)

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5
Q

Role of WNT/beta-catenin in bone homeostasis

A

WNT proteins are produced by osteoprogenitor cells; they bind LRP5 and LRP6 receptors on osteoblasts, triggering activation of beta-catenin and production of OPG

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6
Q

_____ is produced by osteocytes and inhibits the WNT/beta catenin pathway

A

Sclerostin

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7
Q

Hormones involved in bone building vs. bone breakdown

A

Build: estrogen, testosterone, vit D

Breakdown: PTH, IL-1, glucocorticoids

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8
Q

________ receptor on osteoclast precursors stimulates tyrosine kinase cascade that is crucial for generation of osteoclasts

A

M-CSF

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9
Q

Defect in HOXD13 leading to clinical phenotype of short, broad terminal phalanges of first digits

A

Brachydactyly types D and E

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10
Q

Defect in RUNX2 leading to clinical phenotype of abnormal clavicles, wormian bones, and supernumerary teeth

A

Cleidocranial dysplasia

[AD inheritance; wormian bones are extra bones w/i cranial sutures]

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11
Q

Defect in FGFR3 leading to clinical phenotype of short stature with normal trunk length, rhizomelic shortening of limbs, frontal bossing, and midface deficiency

A

Achondroplasia

[most common skeletal dysplasia and a major cause of dwarfism; no change in longevity, intelligence, or reproductive status]

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12
Q

Defect in FGFR3 leading to clinical phenotype of severe limb shortening and bowing, frontal bossing, and depressed nasal bridge

A

Thanatophoric dysplasia

[die at birth or soon after]

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13
Q

COL2A1 defect affecting type 2 collagen leading to clinical phenotype of short trunk

A

Achondrogenesis type 2

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14
Q

Mutation in CLCN7 affecting carbonic anhydrase (CA2), leading to clinical phenotype of increased bone density, fragility, and renal tubular acidosis

A

Osteopetrosis with RTA

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15
Q

Most common inherited disorder of connective tissue, primarily affecting bone but also joints, eyes, ears, skin, and teeth (blue sclera, hearing loss, dental imperfections)

A

Osteogenesis imperfecta

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16
Q

Molecule affected in osteogenesis imperfecta

A

Alpha 1 and alpha 2 chains of type I collagen

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17
Q

Describe the specific collagen defect and inheritance pattern of osteogenesis imperfecta type 1

A

Decreased synthesis of pro-alpha1(1) chain

Abnormal pro-alpha1(1) or pro-alpha2(1) chains

[Collagen structure is normal, but present in smaller amounts]

Inheritance: Autosomal Dominant

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18
Q

Describe the major clinical features and prognosis associated with osteogenesis imperfecta type 1

A 
Postnatal fractures
Normal stature
Skeletal fragility
Dentinogenesis imperfecta
Hearing impairment
Joint laxity
Blue sclerae

Prognosis: compatible with survival

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19
Q

Describe the specific collagen defect and inheritance pattern of osteogenesis imperfecta type 2

A

Abnormall short pro-alpha1(1) chain

Unstable triple helix

Abnormal or insufficient pro-alpha2(1)

Inheritance: mostly autosomal recessive

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20
Q

Describe the major clinical features and prognosis associated with osteogenesis imperfecta type 2

A

Death in utero or within days of birth

Skeletal deformity with excessive fragility and multiple fractures

Blue sclerae

Prognosis: perinatal lethal

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21
Q

T/F: with type 1 osteogenesis imperfecta, most fractures occur before puberty and decrease in frequency with age

A

True

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22
Q

Osteopetrosis is associated with a mutation in ______ which encodes proton pumps on the surface of osteoclasts.

This leads to a ______ _____ deficiency, which is required by osteoclasts and renal tubular cells

A

CLCN7

Carbonic anhydrase

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23
Q

Describe bone defects in osteopetrosis

A

Bones lack medullary cavity

Bulbous ends of long bones (erlenmyer flask shape)

Neural foramina are small and compress cranial nerves (leads to optic atrophy, deafness, facial paralysis, etc.)

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24
Q

Osteopetrosis may develop through autosomal recessive or autosomal dominant inheritance. Describe the autosomal recessive form

A

AR = Severe infantile type

More common in children of Mediterranean and Arab race

Results in cranial nerve deficits (optic atrophy, deafness, facial paralysis)

Postpartum mortality d/t fractures, anemia, and hydrocephaly

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25
Q

Osteopetrosis may develop through autosomal recessive or autosomal dominant inheritance. Describe the autosomal dominant form

A

AD = mild form, diagnosed in adolescence or adulthood

Characterized by repeated fractures, mild cranial nerve deficits, and anemia

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26
Q

Lysosomal storage diseases caused by deficiency in enzymes (usually acid hydrolases) that degrade dermatan sulfate, heparan sulfate, and keratan sulfate

A

Mucopolysaccharidoses

[leads to accumulation of mucopolysaccharides in chondrocytes and in extracellular space —> structural defects in articular cartilage —> short stature, chest wall abnormalities, and malformed bones]

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27
Q

Differentiate defining criteria for osteopenia vs. osteoporosis

A

Osteopenia = decreasd bone mass 1.0-2.5 SD below the mean

Osteoporosis = decreased bone mass at least 2.5 SD below the mean peak bone mass in young adults (aka osteopenia severe enough to increase risk of fracture)

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28
Q

Other than a bone mass at least 2.5 SD below the mean, what clinical event signifies progression of osteopenia to osteoporosis?

A

Atraumatic or vertebral compression fracture

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29
Q

2 most common forms of osteoporosis

A

Senile osteoporosis

Postmenopausal osteoporosis

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30
Q

Describe pathogenesis of senile osteoporosis, low turnover variant

A

Age-related changes include decreased proliferative and biosynthetic potential (aka an overall decreased capacity to make bone), AND a decreased cellular response to growth factors

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31
Q

How do changes in physical activity contribute to the pathogenesis of osteoporosis?

A

Mechanical forces stimulate normal bone remodeling. Load magnitude influences bone density — so resistance exercises are best for increasing bone density

Bone loss is seen with decreased physical activity including conditions of immobility, paralysis, astronauts in zero gravity, etc.

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32
Q

Genetic factors involved in the pathogenesis of osteoporosis

A

Few cases have a single gene defect in LRP5

Other genes that may be involved include RANKL, OPG, RANK, HLA focus, estrogen receptor gene, vit D receptor gene (involved in Wnt signaling)

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33
Q

What role does calcium nutritional state play in the pathogenesis of osteoporosis?

A

Adolescent girls have insufficient calcium intake during period of rapid growth, thus restricting their peak bone mass until ultimately achieved (especially if dieting or have an eating disorder)

[note: calcium deficiency, increased PTH, and decreased vit D may also contribute]

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34
Q

Hormonal influences play a big role in pathogenesis of postmenopausal osteoporosis — leading to ACCELERATED bone loss. 10 years after menopause, there are yearly reductions of up to 2% cortical and 9% cancellous bone. 30-40 years after menopause 35% cortical and 50% of cancellous bone are lost.

Describe the major hormone involved and how it affects pathogenesis in the high turnover variant of this condition

A

Estrogen deficiency —> increased resorption and formation. In the high turnover variant — Formation < resorption

Decreased estrogen increases secretion of inflammatory cytokines by blood monocytes and bone marrow cells, which stimulate osteoclast recruitment and increased RANKL, decreased OPG, leading to decreased osteoclast proliferation and prevention of osteoclast apoptosis

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35
Q

Inflammatory cytokines implicated in postmenopausal osteoporosis

A

IL-1
IL-6
TNF-alpha

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36
Q

Effect of standard breast cancer treatments such as adjuvant chemo or hormonal therapy on risk of osteoporosis

A

Increased bone loss, leading to increased risk of osteoporosis

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37
Q

Osteoporosis is morphologically normal bone, just decreased in quantity. Postmenopausal osteoporosis is associated with increased osteoclast activity, especially in bones with increased surface area such as cancellous bones of the vertebral bodies. The result is perforation, thinning, and loss of interconnections within ______, leading to microfractures and vertebral collapse

A

Trabeculae

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38
Q

In ______ osteoporosis, the morphology consists of cortical thinning by subperiosteal and endosteal resorption, leading to widening of Haversian system (may mimic cancellous bone)

A

Senile

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39
Q

Genetic, nutritional, and environmental risk factors for osteoporosis

A

Genetic: caucasian, light colored hair and eyes

Nutrition: low calcium intake, high phosphorus intake

Environmental: smoking

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40
Q

How is osteoporosis typically diagnosed?

A

Bone mineral density test (DEXA-scan) — early signs may not even show up on Xray (need >30% bone loss to detect on plain film)

Blood tests may be done to determine secondary causes of osteoporosis, such as renal or hepatic failure, hyperthyroidism, etc

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41
Q

Clinical course of osteoporosis includes vertebral fractures, loss of height due to increased lumbar lordosis and kyphoscoliosis, and potential fracture complications such as PE and PNA.

How is osteoporosis treated?

A

Bisphosphonates — decrease osteoclast activity and induce osteoclast apoptosis

[other options include hormone therapy, anti-RANKL agents, etc]

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42
Q

Acquired disorder presenting in late adulthood - resulting in increased BUT disordered and structurally abnormal bone mass; the axial skeleton and femur are involved in up to 80% of cases; avg age at dx is 70

A

Paget disease (aka osteitis deformans)

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43
Q

The pathogenesis of Paget disease is considered both genetic and environmental. Describe genetic basis for this condition

A

40-50% familial

5-10% sporadic mutations in SQSTM1 gene —> increased activity of NF-kB —> increased osteoclast activity

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44
Q

Describe hallmark morphology of Paget disease

A

Mosaic pattern of lamellar bone, seen in sclerotic phase

Jigsaw-like appearance with prominent cement lines = haphazardly oriented units of lamellar bone

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45
Q

3 phases of paget bone changes/morphology

A
  1. Initial lytic phase — large osteoclasts with 100 nuclei (normal is 10-12 nuclei)
  2. Mixed phase — clasts persist, but lots of blasts also; primarily osteoblastic at end of this stage
  3. Final phase — burned-out quiescent osteosclerotic stage characterized by coarsely thickened trabeculae and cortices that are soft and porous, lacking structural stability; fractures easily
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46
Q

Clinical features of paget disease

A

Weight bearing leads to bowing of femurs and tibia, distorting the femoral head and leading to secondary osteoarthritis

Chalk-stick type fractures of long bones of legs

Compression fractures of spine produce spinal cord injury and kyphosis

Hypervascularity of paget bone warms the overlying skin. Increased blood flow acts as arteriovenous shunt leading to high-output heart failure

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47
Q

In paget disease, there is usually ________ serum alk phosphatase, ______ calcium, and _____ phosphorus

A

Increased; normal; normal

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48
Q

Rickets and osteomalacia are both manifestations of _____ deficiency or its abnormal metabolism, leading to impairment of mineralization and resultant accumulation of unmineralized matrix

A

Vit D

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49
Q

What is the difference between rickets and osteomalacia?

A

Rickets = children; interferes with deposition of bone in growth plate

Osteomalacia = adults; bone formed during remodeling is undermineralized, predisposing to fractures

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50
Q 
Frontal bossing
Squared off head
Rachitic rosary of ribs
Pigeon chest
Lumbar lordosis
Bowed legs
A

Rickets

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51
Q

PTH leads to ______ of osteoclasts

A

Activation

[thus hyperparathyroidism leads to significant skeletal changes related to unabated osteoclast activity]

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52
Q

Untreated primary hyperparathyroidism leads to what 3 primary skeletal abnormalities?

A

Osteoporosis
Brown tumors
Osteitis fibrosa cystica (von recklinghausen disease of bone)

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53
Q

Where is osteoporosis most severe with hyperparathyroidism?

A

Phalanges, vertebrae, and proximal femur

[this is because increased osteoclast activity is most prominent in cortical bone (subperiosteal and endosteal surfaces), medullary bone not spared]

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54
Q

_____ _____ = osteoclasts tunnel into and dissect centrally along length of trabeculae creating appearance of railroad tracks

A

Dissecting osteitis

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55
Q

What are “brown tumors” (associated with hyperparathyroidism)

A

Bone loss predisposes to microfracture that elicits influx of macrophages and ingrowth of reparative fibrous tissue creating a mass of reactive tissue

[tumors are brown d/t vascular, hemorrhage, and hemosiderin deposition; can undergo cystic degeneration]

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56
Q

Skeletal changes that occur in chronic renal disease, including those associated with dialysis, including osteopenia/osteoporosis, osteomalacia, secondary hyperparathyroidism, and growth retardation

A

Renal osteodystrophy

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57
Q

Histologic bone changes associated with renal osteodystrophy

A

High-turnover osteodystrophy — increased bone resorption and bone formation; resorption > formation

Low-turnover or aplastic disease — adynamic bone (little osteoclastic and blastic activity); less commonly osteomalacia

Mixed: areas of high turnover and low turnover

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58
Q

3 mechanisms by which renal disease causes skeletal abnormalities

A
  1. Tubular dysfunction — RTA low pH dissolves hydroxyapatite —> demineralization
  2. Generalized renal failure —> decreased phosphate excretion and thus chronic hyperphosphatemia, hypocalcemia, and secondary hyperparathyroidism
  3. Decreased production of secreted factors (vit D3)
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59
Q

In what pt population is renal osteodystrophy most serious?

A

Kids — because their bones are still growing so deformities are more significant

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60
Q

Fracture in which overlying skin is intact

A

Simple fracture

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61
Q

Fracture in which bone communicates with skin surface

A

Compound fracture

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62
Q

Fracture in which bone is fragmented

A

Comminuted

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63
Q

Fracture in which ends of bone at the fracture site are not aligned

A

Displaced fracture

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64
Q

Slowly developing fracture that follows a period of increased physical activity in which bone is subjected to repetitive loads

A

Stress fracture

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65
Q

Fracture extending only partially through bone, common in infants when bones are soft

A

Greenstick fracture

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66
Q

Fracture involving bone weakened by an underlying disease process, such as a tumor

A

Pathologic fracture

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67
Q

Healing of fracture begins immediately, as rupture of blood vessels results in a ______ which fills the fracture gap and surrounds the area of bone injury.

Clotted blood forms fibrin mesh, sealing the site and creating framework for influx of inflammatory cells and fibroblasts. Degranulated platelets and migrating inflammatory cells release ____, _____, and ____ which activate osteoprogenitor in the periosteum, medullary cavity, and surrounding soft tissues, and stimulate osteoclastic and osteoblastic activity

A

Hematoma

PDGF; TGF-B; FGF

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68
Q

In terms of fracture healing, by the end of the first week there is a soft tissue _____ or ______ which will be fusiform and predominantly uncalcified

A

Callus; procallus

[overall stages are 1. Hematoma formation, 2. Callus formation, 3. Callus ossification, 4. Bone remodeling]

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69
Q

Infarction of the bone and marrow caused by vascular insufficiency through mechanical injury to blood vessels, thromboembolism, external pressure on vessels, or venous occlusion

A

Osteonecrosis (avascular necrosis)

70
Q

2 most common causes of osteonecrosis

A

Fractures

Corticosteroid tx

71
Q

What type of infarct associated with osteonecrosis causes pain initially associated only with activity, later becoming constant, and often collapse potentially leading to severe secondary osteoarthritis?

A

Subchondral infarcts

72
Q

_____ infarcts associated with osteonecrosis are usually small and clinically silent, except they occur with Gaucher disease, dysbarism (“bends”), and ___________

A

Medullary; sickle cell anemia

73
Q

Regardless of etiology, medullary infarcts are geographic and involve trabecular bone and marrow. Why isn’t the cortex affected in these cases?

A

Because of the collateral flow to the cortex

74
Q

Describe “dead bone” associated with osteonecrosis morphology

A

Empty lacunae surrounded by necrotic adipocytes that frequently rupture, releasing fatty acids that bind calcium forming insoluble calcium soaps; osteoclasts resorb necrotic trabeculae

Trabeculae that remain act as scaffolding for deposition of new bone = “creeping substitution”

75
Q

________ = inflammation of bone and marrow, virtually always following infection and may be a complication of systemic infection, but frequently a primary solitary focus of disease; can be due to viruses, parasites, fungi, and bacteria, but mostly caused by _______ and ______

A

Osteomyelitis; pyogenic bacteria; mycobacteria

76
Q

What causes 80-90% of culture positive osteomyelitis?

A

Staphylococcus aureus

77
Q

E.coli, pseudomonas, and klebsiella more commonly cause osteomyelitis in pts with UTIs or IV drug users. H.influenzae and group B strep are also frequent pathogens associated.

Sickle cell patients are at increased risk for osteomyelitis due to _________.

Patients with a MAC complement deficiency are at increased risk of osteomyelitis due to __________

A

Salmonella

Neisseria

78
Q

In acute osteomyelitis, bacteria proliferate and neutrophils are present. There is often necrosis of bone cells and marrow within 48 hours. In kids, the periosteum is loosely attached, and sizable ______ _____ may form and dissect for long distances along bone surface.

A

Subperiosteal abscesses

79
Q

A ________ is dead bone following subperiosteal abscess due to osteomyelitis. Rupture of the periosteum in these cases may lead to soft tissue abscess which can channel to becoming a draining _____

A

Sequestrum; sinus

80
Q

Clinical course of acute osteomyelitis in infants

A

Epiphyseal infection spread through articular surface or along capsular and tendoligamentous insertions into joints —> septic or suppurative arthritis

Can destroy articular cartilage leading to permanent disability

81
Q

Chronic osteomyelitis is characterized by release of cytokines by chronic inflammatory cells that stimulate osteoclastic resorption, ingrowth of fibrous tissue, and deposition of reactive bone at the periphery.

During the chronic phase of osteomyelitis, an _________ is newly deposited bone that forms a shell of living tissue around the segment of devitalized bone

A

Involucrum

82
Q

During the chronic phase of osteomyelitis, a ____ ____ may form which is a small interosseous abscess frequently involving the cortex and is walled off by reactive bone

A

Brodie abscess

83
Q

The chronic phase of osteomyelitis may be characterized by sclerosing osteomyelitis of Garre — what is that???

A

Osteomyelitis of the jaw, associated with extensive new bone formation that obscures much of the underlying osseous structure

84
Q

________ osteomyelitis is usually blood-borne, originating from a focus of active visceral disease during initial stages of primary infection. Bone infection may persist for years before detected, and is histologically characterized by caseous necrosis and granulomas

A

Mycobacterial osteomyelitis

85
Q

Mycobacterial osteomyelitis of the spine in which infection breaks through intervertebral discs to infect multiple vertebrae and soft tissues, leading to permanent compression fractures —> scoliosis or kyphosis and associated neurologic deficits

A

Tuberculous spondylitis (Pott disease)

86
Q

Bone abnormalities associated with congenital syphilis

A

Saber shin — massive reactive periosteal bone deposition on medial and anterior surfaces of the tibia

[Bone lesions appear about 5th month gestation and are fully developed at birth]

87
Q

Bone lesions associated with acquired syphilis

A

Saddle nose, palate, skull, and extremities (especially long tubular bones like the tibia)

[bone disease may begin early in tertiary stage, 2-5 years after initial infection]

88
Q

Benign cartilage-forming tumor affecting metaphysis of long bones in ages 10-30, characterized by bony excrescence with cartilage cap

A

Osteochondroma

89
Q

Benign cartilage-forming tumor affecting small bones of hands and feet in ages 30-50 characterized by circumscribed hyaline cartilage nodule in medulla

A

Chondroma

90
Q

Malignant cartilage-forming tumor, often affecting pelvis or shoulder, in ages 40-60 characterized by extension from medulla through cortex into soft tissue, chondrocytes with increased cellularity, and atypia

A

Chondrosarcoma

91
Q

Benign bone-forming tumor affecting metaphysis of long bones in ages 10-20 characterized by cortical, interlacing microtrabeculae of woven bone

A

Osteoid osteoma

92
Q

Malignant bone-forming tumor affecting metaphysis of distal femur and/or proximal tibia in ages 10-20 characterized by extension from medulla to lift periosteum, malignant cells producing woven bone

A

Osteosarcoma

93
Q

Malignant tumor of unknown origin affecting diaphysis of longbones in ages 10-20 characterized by sheets of primitive small round cells

A

Ewing sarcoma

94
Q

Most common benign bone tumor, 85% of which are solitary and affecting men 3x more commonly than women

A

Osteochondroma (aka exostosis)

95
Q

Osteochondromas typically present in early adulthood, but may present younger in autosomal dominant _____ _____ _____, which progresses to _______ in 5-20%

A

Multiple hereditary exostosis; chondrosarcoma

96
Q

Benign hyaline cartilage, solitary metaphyseal lesions of hands and feet, may be within medullary cavity or on surface

A

Chondroma (enchondroma when in medullary cavity)

97
Q

Multiple enchondromas = _______ syndrome

A

Ollier

98
Q

________ _______ = Multiple enchondromas + angiomas —> increased risk of chondrosarcoma and other malignancies

A

Mafucci syndrome

99
Q

Second most common malignant matrix producing tumor of bone, 2:1 male predominance, usually 40s or older, affecting axial skeleton

A

Chondrosarcoma

100
Q

Chondrosarcomas tend to invade locally as a painful enlarging mass and may metastasize. 70% of grade 3 spread hematogenously, especially to the ____

A

Lungs

101
Q

GI polyposis syndrome occurring at mean ages 10-15 due to mutation in APC resulting in multiple GI adenomas as well as osteomas, thyroid and desmoid tumors, and skin cysts

A

Gardner syndrome

102
Q

Demographics and clinical features of osteoid osteoma

A

Young men, teens and 20s

Clinically: Painful, usually worse at night, classically responds to aspirin and NSAIDs

[usually affects appendicular skeleton — 50% of the time femur or tibia]

103
Q

By definition, osteoid osteomas are <2 cm in greatest dimension. Anything greater than 2 cm would be classifed as an _______

A

Osteoblastoma

104
Q

Morphologically, osteoid osteomas are characterized by a central nidus of translucent woven bone surrounded by a rim of osteoblasts. What is the primary radiographic clue that it is an osteoid osteoma?

A

Thick rind of reactive cortical bone

105
Q

Osteoblastomas are bigger than osteoid osteomas (>2 cm) and typically involve the _____ ______. They do not show a bony reaction, and are characterized by an achy pain that does NOT respond to aspirin

A

Posterior spine

106
Q

Most common primary malignant tumor of bone, presenting as a painful enlarging mass

A

Osteosarcoma

107
Q

Age distribution of osteosarcoma

A

Bimodal age distribution — 75% occur in males <20 y/o

2nd peak in older males with Pagets, prior radiation (secondary osteosarcoma)

108
Q

Most commonly affected area in osteosarcoma

A

Around the knee (60-75%)

109
Q

Genes associated with development of osteosarcoma

A

Increased risk if Rb gene mutation (70% of sporadic osteosarcoma)

Other genes involved include TP53 (Li-Fraumani syndrome), INK4a, MDM2, and CDK4

110
Q

Characteristic x-ray finding associated with osteosarcoma

A

Mixed lytic and blastic mass + CODMAN triangle (elevation of periosteum)

111
Q

Prognosis of osteosarcoma

A

Spreads early to lungs (10-20% at dx)

Surgery and chemo result in 60-70% survival at 5 years

Spreads hematogenously to lungs, bones, and/or brain

112
Q

Demographics of ewing sarcoma family tumors (ESFT)

A

80% occur in ages <20

Striking predilection for caucasians

2nd most common bone sarcoma in children

113
Q

Ewing sarcoma family tumors are small blue round cell tumors that are undifferentiated. With neural differentiation, they are associated with _____

A

PNET (primitive neuroectodermal tumor)

114
Q

Clinical presentation of ewing sarcoma family tumors

A

Painful enlarging mass; frequently tender, warm, and swollen (fever, increased ESR) — mimics infection!

115
Q

Locations affected by ewing sarcoma family tumors, and their characteristic finding on x-ray

A

Diaphysis of long bones, esp femur and flat bones (arises in medullary cavity and invades cortex)

On x-ray: periosteal reaction shows up as reactive bone in “onion skin” fashion

116
Q

t(11;22)(q24:q12) resulting in fusion gene ________ is found in 85% of ________

A

EWS-FL11; Ewing Sarcoma Family Tumors (ESFT)

117
Q

ESFT are aggressive malignancies treated with neoadjuvant chemo followed by surgical excision with or without irradiation. The advent of effective chemo has achieved 5 year survival of 75% and long-term cure in 50%. What is an important prognostic finding in this condition?

A

The amount of chemotherapy-induced necrosis

118
Q

Fibrous dysplasia is a benign proliferation of fibrous tissue and bone that does not mature and may be a developmental anomaly. What are the clinical features associated with fibrous dysplasia?

A

Mostly early adolescence (stops enlarging at growth plate closure); M=F

1/3 craniofacial bones, 1/3 femur or tibia, and 1/3 ribs

Usually incidental finding, but can cause pain, fracture, or discrepencies in limb length

119
Q

Radiographic appearance of fibrous dysplasia

A

Ground glass with well-defined margins

120
Q

Disease characterized by GNAS mutation leading to unilateral bone lesions, pigmented skin lesions (cafe au lait), and precocious puberty in females (+other endocrinopathies)

A

McCune-Albright disease

121
Q

Syndrome characterized by fibrous dysplasia (usually polyostotic), multiple skeletal deformities in childhood; may also show soft tissue myxomas (IM)

A

Mazabraud syndrome

122
Q

Multinucleated osteoclast-type giant cell tumor that is benign but locally aggressive, arising in epiphysis but may extend into metaphysis causing arthritis like symptoms, and tends to recur after curettage

A

Osteoclastoma

123
Q

The most common form of skeletal malignancy is metastasis. Spread may occur via direct extension, lymph/hematogous, or intraspinal seeding. What primary tumor sites most commonly spread to bone in adults vs. kids?

A

Adults — 75% from prostate, breast, kidney, lung

Kids — neuroblastoma, wilms, osteosarcoma, ewing, rhabdomyosarcoma

124
Q

Radiography of metastasis to bone may show lytic lesions which are characteristic of primary tumors of renal, lung, GI, or melanoma origin. Alternatively, radiography may show blastic (bone forming) lesions which is characteristic of ______ ______

A

Prostatic adenocarcinoma

125
Q

Primary or idiopathic Osteoarthritis/DJD is typically due to _______ and is considered oligoarticular (affects few joints). It tends to affect ____ and _____ in women, and ____ in men

A

Aging; hands; knees; hips

126
Q

Secondary osteoarthritis may occur in what conditions?

A

DM, hemochromatosis, thyroid, acromegaly, charcot

[predisposing conditions include joint deformity, trauma, marked obesity]

127
Q

Osteoarthritis/DJD is a disease of CARTILAGE wear and tear. What are clinical features of DJD?

A

Evening stiffness, crepitus, limited ROM, gets worse with use

128
Q

Bouchard’s nodes vs. heberden nodes

A

Bouchard’s nodes = DJD in PIPs

Heberden nodes = DJD in DIPs

129
Q

Pathogenesis of osteoarthritis/DJD begins when water content of matrix increases and concentration of proteoglycans decreases, leading to cracks in matrix, eventually leading to “joint mice” which are hunks of sloughed off ________.

Subchondral bone is then exposed and rubbed smooth in a process called _______ (causes bone-on-bone pain)

The bone then tries to buttress the stress, and microfractures and cysts develop. The formation of ______ may lead to nerve root compression and radicular pain

A

Cartilage

Eburnation

Osteophytes

130
Q

_________ = inflammation, pannus, eroding cartilage, fibrous ankylosis, bony ankylosis

________ = bony spurs, no ankylosis, subchondral cyst, subchondral sclerosis, osteophyte, thinned and fibrillated cartilage

[2 types of arthritis]

A

Rheumatoid arthritis

Osteoarthritis

131
Q

Demographics of RA

A

Peaks 2nd-4th decades

3:1 female predominance

132
Q

RA is associated with destruction of articular cartilage and _____, which is joint stiffness due to abnormal adhesion and rigidity (may be result of injury or disease)

A

Ankylosis

133
Q

Joint distribution and clinical features of RA

A

Symmetrical distribution, small joints

Joints are swollen, warm, and painful

Characterized by morning stiffness or “gelling” after rest — may last longer than 1 hr in active disease

134
Q

Boutonniere vs. swan-neck deformities

A

Boutonniere = hyperextension of DIP, flexion of PIP

Swan-neck = hyperextension of PIP, flexion of DIP

[both are seen in RA]

135
Q

2 other hand deformities seen in RA other than boutonniere and swan-neck

A

Ulnar deviation of fingers

Radial deviation of wrist

136
Q

RA joint pathology is characterized by _______ which is edematous, thickened, hyperplastic synovium; synovial hypertorphy with villi; and dense_____ aggregates

A

Pannus; lymphoid

137
Q

What are rheumatoid nodules?

A

Deformities on extensor surfaces at pressure points

Morphologically characterized by central necrosis and palisading histiocytes

138
Q

Autoimmune, T-cell response initiated by environmental factors in predisposed without specific antibodies present, leading to pathologic changes in ligamentous attachments rather than synovium

A

Seronegative spondyloarthropathies

139
Q

Seronegative spondyloarthropathies are negative for rheumatoid factor (RF), but are commonly associated with ______

A

HLA-B27

140
Q

HLA-B27 -related seronegative spondyloarthropathy affecting vertebrae and SI joints in ages 20-30s with complications including uveitis, aortitis, and amyloidosis, as well as possibility of peripheral joint involvement

A

Ankylosing spondylitis

141
Q

Triad of reactive arthritis

A
  1. Arthritis
  2. Urethritis or cervicitis
  3. Conjunctivitis
142
Q

80% of reactive arthritis is associated with molecular marker _______, occurs in ____ in their 20s and 30s, as well as individuals with HIV; often with hx of prior GI or GU infections

A

HLA-B27; Men

143
Q

Organisms implicated in enteritis-associated arthritis

A

Yersinia
Salmonella
Shigella
Campylobacter

[LPS stimulates immune response —> knees and ankles usually]

144
Q

HLA-B27-related seronegative spondyloarthropathy affecting peripheral and axial joints, ligaments, and tendons; characterized by “pencil in cup” deformity of DIPs, frequent remissions, nail thickening and pitting and/or onycholysis

A

Psoriatic arthritis

145
Q

Organisms that cause suppurative arthritis in <2 y/o vs. older kids and adults

A

<2 y/o: H.influenzae

Older kids and adults: staph aureus, gonococcus late adolescent, early adult

[gonococcal arthritis is more prevalent in sexually active women, increased risk in MAC def]

146
Q

Clinical features of suppurative arthritis

A

Acutely painful, swollen joint with restricted range of motion [mycobacterial has more insidious onset]

Fever, leukocytosis, elevated ESR

Joint aspiration is diagnostic — purulent fluid

147
Q

90% non-gonococcal cases of suppurative arthritis involve single joint — most commonly the ____

A

Knee

[followed by hip, shoulder, elbow, wrist, SC joint]

note: knee is also most common affected in mycobacterial and lyme disease supp arthritis

148
Q

Tick-borne suppurative arthritis

A

Lyme disease (borrelia burgdorferi) — 60-80% develop days or weeks after skin lesion

149
Q

Viral causes of suppurative arthritis

A

HIV, HBV, HCV, EBV, parvo B19, rubella

150
Q

Gout is characterized by transient attacks of acute arthritis initiated by crystallization of ____________ within and around joints

A

Monosodium urate (MSU)

[precipitation MSU into joint —> cytokines that recruit leukocytes]

151
Q

Precipitation of MSU in gout requires overproduction or reduced excretion — thus plasma levels are ______

A

> 6.8 mg/dL

152
Q

Risk factors for gout

A

Age (gout appears w/ 20-30 years of hyperuricemia)

Genetic predisposition

Heavy alcohol consumption

Obesity

Drugs (thiazides)

Lead toxicity (saturnine gout)

153
Q

Gout may be classified as primary (90%) or secondary (10%). What are the major causes of primary gout?

A

Unknown enzyme defects (85-90% of cases)

Known enzyme defects (e.g., partial HGPRT def)

154
Q

3 major causes of secondary gout

A

Increased nucleic acid turnover (e.g., leukemia) —> increased uric acid production

Chronic renal dz —> decreased uric acid excretion

Congenital (e.g., Lesch-Nyhan syndrome, HGPRT deficiency) —> increased uric acid production

155
Q

Why does gout tend to affect peripheral joints?

A

Lower temp of peripheral joints favors crystallization

156
Q

Morphologic finding that is pathognomonic for gout

A

Gouty tophus and polarized urate crystals

157
Q

Condition characterized by crystallization of calcium pyrophosphate that forms chalky, white, friable deposits that morphologically show oval blue-purple aggregates

A

Calcium pyrophosphate crystal deposition (CPPD) aka Pseudo-gout aka Chondrocalcinosis

158
Q

Cyst that forms in joint capsule or tendon sheath, typically on the wrist with firm fluctuant pea-sized translucent nodule as the result of cystic or myxoid degeneration (cyst wall lacks cell lining)

A

Ganglion cyst

159
Q

A synovial cyst is a herniation of synovium through joint capsule. One type of this is ________ which occurs in the popliteal space and is associated with RA

A

Baker cyst

160
Q

Tumor associated with t(12;16)(q13;p11) FUS-DDIT3 gene fusion leading to arrests in adipocytic differentiation

A

Liposarcoma — myxoid and round-cell type

161
Q

Tumor associated with t(x;18)(p11;q11) w/chimeric transcription factors, interrupts cell cycle control

A

Synovial sarcoma

162
Q

Tumor associated with t(2;13)(q35;q14) and/or t(1;13)(p36;q14) affecting PAX genes —> disruption of skeletal muscle differentiation

A

Rhabdomyosarcoma-alveolar type

163
Q

Most common soft tissue tumor of adults, characterized by encapsulated mass of normal appearing adipose tissue

A

Lipoma

164
Q

Most common histologic variant of liposarcoma

A

Myxoid (intermediate)

165
Q

Self-limited fibroblastic and myofibroblastic proliferation; young adults upper extremity; spontaneously regresses

A

Nodular fasciitis

166
Q

Fibromatoses are nfiltrative local deformities; M>F; may affect palms as ____________, plantar in young pts without contracture, or penile as ________ disease

A

Dupuytren contracture; peyronie disease

167
Q

3 subtypes of rhabdomyosarcoma

A

Alveolar (kids) — FOXO1 fusion to PAX3 (2;13) or PAX7 (1;13)

Embryonal (kids) — rhabdomoblasts with cross striations, sarcoma botryoides

Pleomorphic (adults)

168
Q

Benign smooth muscle tumor often occurring in the uterus (fibroid); associated with hereditary leiomyomatosis and renal cell cancer syndrome

A

Leiomyoma

169
Q

Smooth muscle tumor of adults (makes up 10-20% of ST sarcomas), W>M, affecting extremities and retroperitoneum

A

Leiomyosarcoma

170
Q

Tumor of uncertain origin, may be found adjacent to a joint but also found in chest wall, head and neck. 4th most common sarcoma. + for keratins, epith markers, poor prognosis with mets to lung common

A

Synovial sarcoma

[misnomer — does not come from synovium, thats just where tumor was first found]

MSK II Exam I (8 decks)

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