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Pathology of Bones and Joints > Pathology of Bones and Joints > Flashcards

Pathology of Bones and Joints Flashcards

1
Q

Achondropolasia

A
  • most common form of inherited dwarfism
  • AD pattern, most are sporatic, mutation in fibroblast growth factor receptor (FGFR3) that inhibits chondrocyte proliferation
  • effects endochondral ossification ONLY
  • short limbs and relatively large head and torso
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2
Q

Osteogenesis Imperfecta (OI)

A

variety of gene defects leading to abnormal development of TYPE 1 Collagen

  • brittle bone; recurrent fractures and skeletal deformities
  • thin, blue sclera due to Type 1 collagen
  • hearing loss (middle ear ossicles abnormal)
  • dental imperfections due to deficient dentin
  • intra-uterine fractures/deformities possible
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3
Q

Osteopetrosis

A
  • Marble Bone Disease, Albers-Schonberg Disease
  • failure of osteoclastic bone resorption leads to loss of medullary cavity, loss of marrow function, loss of bone remodelling
  • thick, dense brittle bone (chalk-like)
  • Anemia, bone deformity causing broad metaphyses (Erlenmeyer flask shape)
  • Limited RANKL = less osteoclasts
  • Carbonic Anhydrase II enzyme deficiency no acid in resorption pits
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4
Q

Paget’s Disease (Osteitis deformans)

A
  • Disorder in bone remodelling
  • Excessive bone resoprtion accompianed by disordered bone formation
  • Bone is thick but deformed and weak (fracture)
  • Genetic; Paramyxovirus
  • 15% Monostotic; 85% Polystotic
  • in skull, pelvis, proximal femur, vertebrae
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5
Q

Paget’s Disease (pathologies)

A
  • INCREASE in serum alkaline phosphotase
  • Mosaic bone pattern
  • A-V shunts - increase in vascularity so incr warmth, can hear bruits in bone
  • Bone pain; fractures
  • Deafness - small bones of ear growing so cause compression
  • Cranial nerve compression - bone gets thick so compresses neural canals
  • osteosarcoma
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6
Q

Osteoporosis

A
  • Decreased bone mass resulting in thin, fragile bone prone to fracture
  • Normally mineralized bone decreased in mass to point where it no longer provides adequate mechanical support
  • enhanced bone resorption relative to bone formation
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7
Q

Osteoporosis (pathologies)

A
  • Bone pain
  • Loss of height
  • Fractures: femoral neck; spine; wrist
  • smoking, age, meopause, weight, genetics, diet, exercise all contribrute
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8
Q

Osteomalacia and Rickets

A
  • Decreased mineralization of newly formed bone usually caused by Vit D deficiency; not enough mineralized osteoid (normal), just not enough mineralized so soft bone (more protein)
  • Dietary deficiency of Vit D, malabsorption, lack of sunlight, renal and liver diseases
  • Rickets - improper calcification of bone, more unmineralized bone present so becomes weak, LOTS of protein, NO mineralized protein/bone
  • Rickets in kids
  • Osteomalacia in adults
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9
Q

Fibrous Dysplasia

A
  • BENIGN non-tumorous replacement of marrow by fibrous tissue
  • mono- or poly-ostotic
  • deformity, swelling, fracture
  • may be associated with precocious puberty in girls and pigmented skin (cafe-au-lait) spots = McCune-Albright Syndrome
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10
Q

Pyogenic Osteomyelitis

A
  • Most often caused by bacteria that reaches bone via direct inoculation, blood stream, or contiguous spread - stab wound; open fracture
  • pyogenic = pus formation
  • usually seen in children
  • Staph. Aureus - most common 80-90%
  • E.coli, pseudomonas, klebsiella in urinary tract infections and drug addicts
  • Haemophilus influenzae and group B Strept in newborns
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11
Q

Pyogenic Osteomyelitis (cont)

A
  • Salmonella in sickle cell disease
  • In ~50% of cultures NO organism identified
  • Lytic lesion with surrounding sclerosis (denser bone)
  • fever, chills, leukocytosis, pain
  • 5-25% become chronic infection (not cured)
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12
Q

Chronic Osteomyelitis

A

Involucrum: periosteal new bone forms around a piece of necrotic bone; living, body produces to try to prevent the spread of infection

Sequestrum: dead or necrotic (ioslated and avascular) piece of bone surrounded by pus; surgical interventaion/removal; can never heal because avascular

Sequestrum - classic area is in tibia fracture; or when bone graph doesn’t take causes too much pressure from bone plates that can choke off healthy bone

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13
Q

Bone Tumor factors important to determine exact nature of the lesion

A
  • clinical presentation
  • radiographic appearance
  • age of patient
  • LOCATION of lesion
  • microscopic appearance
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14
Q

Bone Tumors: epiphyseal lesions

Chondroblastoma

A
  • rare tumor seen in children and adolescents with open growth plates
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15
Q

Bone tumors: epiphyseal lesions

Giant Cell Tumor

A
  • Most common tumor of epiphyses in skeletally mature individuals with closed growth plates
  • shows metaphyseal extension
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16
Q

Bone Tumros: Metaphyseal intramedullary lesions

A
  • Osteosarcoma centered in metaphysis
  • chondrosarcoma and fibrosarcoma
  • osteoblastoma
  • enchondroma
  • fibrous dysplasia
  • simple bone cyst
  • aneursymal bone cyst
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17
Q

Bone tumors: Metaphyseal lesions centered in the cortex

A
  • Non-ossifying fibroma (NOF)
  • osteoid osteoma
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18
Q

Bone tumors: Metaphyseal exostosis

A
  • Osteochondroma
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19
Q

Bone tumors: Diaphyseal intramedullary lesions

A
  • Ewing’s sarcoma
  • lymphoma
  • myeloma
  • common for fibrous dysplasia and enchondroma
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20
Q

Bone tumors: Diaphyseal lesions centered in the cortex

A
  • Adamantinoma
  • Osteoid osteoma
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21
Q

Metastatic cancers

A
  • most frequent malignant tumors found in bone
  • NOT primary bone tumors = metastatic
  • predominant occurence in children first decade of life and adults over 40
  • multifocality and predilection for hematopoietic marrow sites in the axial skeleton and proximal long bones
  • Distal metastases RARE; small bones of hands and feet RARE
22
Q

Most common malignancies producing skeletal metastases

A
  • ADULTS - carcinomas of the prostate, breat, kidney, lung, thyroid, colon, melanomas
  • CHILDREN - neuroblastoma, rhabdomyosarcoma, retinoblastoma
23
Q

Primary bone tumors

A
  • predominant occurence in first 3 decades of life during ages of the greatest skeletal growth activity
  • Common sites: distal femur and proximal tibia (bones with highest growth rate)
  • Osteosarcoma and multiple myeloma have highest incidence, followed by chondrosarcoma and Ewing’s sarcoma
24
Q

Benign tumors

A
  • Far more common than malignant
  • some not true neoplasms - hamartomas
  • most common: osteochondroma, non-ossifying fibroma, enchondroma
25
Q

Bone tumors: 2 important features

A
  • ability to de-differentiate = low-grade transforming into a high-grade sarcoma
  • tendency of high-grade sarcomas to arise in damaged bone, at sites of bone infarcts, radiation osteitis and Paget’s disease
26
Q

Tumors of children and young adults

A
  • priamry osteosarcoma and Ewing’s sarcoma
  • occurrence of these in middle-aged patients extremely unusual
27
Q

Skeletal malignancy >40

A
  • most common: metastatic cancer
  • multiple myeloma and chondrosarcoma most common
  • osteosarcomas are secondary, develop at sites of bone damage
  • Giant cell tumor - locally aggressive lesion, occurs in skeletally mature patients, 20-50, never seen in children or patients older than 60
28
Q

Osteoma

A
  • Benign lesions of bone found in head and neck
  • project from subperiosteal or endosteal surfaces of cortex
  • slow growing, no clinical significance unless cause obstruction or cosmetic issues
  • no malignant potential
29
Q

Gardener’s syndrome

A
  • multiple osteoma of the mandible and maxilla, along with frontal, sphenoid and ethmoid sinuses
  • Rare in long bones or phalanges
  • cutaneous and soft tissue tumors
30
Q

Osteoid osteoma

A
  • Benign
  • < 2 cm
  • 75% patients <25
  • more in female
  • 50% in femur or tibia
  • PAINFUL, NOCTURNAL, RELIEVED BY ASPIRIN
  • Histologically: well-circumscribed, vascular tissue
31
Q

Osteoblastoma

A
  • larger > 2 cm
  • in young people
  • more often in the spine; SPs
  • pain is dull, achy
  • NOT RELIEVED BY ASPIRIN,
  • NO vascular channels
32
Q

Osteosarcoma

A
  • most common primary malignant tumor of bone
  • malignant mesenchymal tumor where neoplastic cells produce bone matrix
  • bimodal age distribution
  • 60% occur around knee region
  • genetic mutations in RB gene, p53, p16, Cyclin D1
  • neoplastic bone has coarse, lace-like architecture
33
Q

Osteogenic sarcoma

A
  • painful, enlarged mass (may present as sudden fracture)
  • X-ray shows large desctructive mixed lytic and blastic lesion
  • bulky, gritty, grey-white hemorrhagic tumor may break thru cortex, lifting periosteum, causing reactive periosteal bone formation
  • Codman triangle = triangular shadow b/w the cortex and raised ends of periosteum
  • SEEN MOSTLY IN THE KNEE
34
Q

Exostosis (osteochondroma)

A
  • Benign
  • cartilage-capped outgrowth attached to underling skeleton by bony stalk
  • single or multiple (multiple hereditary exostosis - AD
  • cap is hyaline cartilage, apepars disorganized growth palte; cortex of stalk merges w/ cortex of host bone so medullary cavity of osteochondroma and bone continuous
35
Q

Chondroma

A
  • Benign lesions of mature hyaline cartilage
  • most common intraosseous cartilage tumors (20-50 yrs)
  • Enchondromas w/i medullary cavity, solitary and in feet or hands
  • Juxtacortical or subperiosteal chondromas arise on the bone surface
  • Asymptomatic, stable, rarely progress to malignancy
  • Enchondromas common in short long bones
36
Q

Ollier disease (enchondromatosis)

A

multiple enchondromas; frequently transform into chondrosarcoma

37
Q

Maffuci syndrome

A

Multiple enchondromas and soft tissue hemagiomas, may have more cellularity and atypia microscopically

38
Q

Chondrosarcoma

A
  • malignant tumor which produces neoplastic cartilage; half as freq as osteosarcoma; Pts usaully >40 yrs old
  • subclassified as intramedullary or juxtacortical, and conventional , myxoid, clear cell, dedifferentiated, mesenchymal
  • commonly in pelvis, shoudler, ribs
  • RARE in distal extremities
  • painful, progressively enlarging mass
  • direct correlation b/w hiostological grade and biological behavior of tumor
  • >10 cm are aggressive
39
Q

Fibrous Cortical Defect

A
  • very common, 50% seen in children > 2 yo; may be developmental defects rather than neoplasms
  • most in distal femur or proximal tibia
  • usually 0.5 cm; if grow to 5-6 cm then become nonossifying fibromas (adolescence)
  • asymptomatic; usually undergo spontaneous resolution and are replaced by normal cortical bone
  • if progress to NOF, may be present with pathological fracture req biopsy and curettage
40
Q

Nonossyifying Fibroma

A
  • moderately cellular lesion composed of cytologically benign fibroblasts (spindle cells) in a storiform (pinwheel) pattern
  • has histiocytes which can be multinucleated giant cells or clusters of foamy macrophages
41
Q

Ewing sarcoma

A
  • PNET = primitive neuroectodermal tumor
  • small round blue cells; neural differentiation
  • 2nd most common bone tumor in peds
  • tumor arises in medually cavity, invades cortex and periosteum
  • tan-white soft tissue mass with areas of hemorrhage and necrosis
  • painful, enlarging mass, tender, warm, swollen, esp. femur
  • may have fever, leukocytosis, anemia
42
Q

Giant Cell Tumor (Osteoclastoma)

A
  • consists of multinucleated osteoclast-type giant cells
  • uncommon, locally aggressive
  • Pts in 20-40s
  • majority arise around knee
  • probably from monocyte-macrophage line (giant cells form from fusion of mononuclear cells)
  • X-ray: large, lytic lesion eroding into subchondral bone plate; often overlying cortex is destroyed, resulting in soft tissue mass outlined by thin shell of reactive bone
  • grossly, large, red-brown with cystic degen
43
Q

Osteoarthritis: Degen joint disease

A
  • progressive erosion of articular cartilage; usually aging related (primary)
  • can be secondary to previous trauma, congential deformity, marked obesity, diabetes, hemochromatosis
  • aging “wear and tear” and genetics contribute
  • degeneration of hyaline cartilage - incr water and decr conc of proteoglycans, decr local synth of type II collagen
44
Q

Osteoarthritis (presentation)

A
  • usually Pts have dep, achy pain which worsens with use, morning stiffness, crepitus, limitation of ROM
  • osteophytes may impinge on nerves, radicular pain and muscle spasm may occur
  • commonly involved joints: hip, knees, lower lumbar and cervical vertebrae, fingers
  • Heberden nodes = women, in fingers; are prominent osteophytes at DIP joints
45
Q

Rheumatoid Arthritis

A
  • chronic inflammatory, autoimmune, systemic dx
  • mostly affects joints but also skin, blood vessels, heart, lungs, muscles
  • Joints: nonsuppurateive, inflammatory synovitis that leads to articular cartilage destruction and ankylosis of joints
  • Women more affected than men
  • Pts have serum RF, and IgM antibody reactive with Fc portions of Pts own IgG
  • synovial fluid will show nonspecific inflammatory inflitrate with neutophils, high protein, low mucin
  • thought to be an autoimmune dx triggered by exposure of genetically susceptible Pt to some unknown arthritogenic antigen
46
Q

Infectious Arthritis

A
  • gonococcus etc.
  • children under 2, H. Influenza is the organism
  • Late adol and young adults - Gonococcous more prevalent = STDs
  • older children and adults - Staph. aureus
  • sickle cell = Salmonella
  • acutely: joint swollen, red, warm, very painful movement; fever, leukocytosis common
  • chronic: intermitten swelling, joint contracture, pain, stiffness and draining sinuses common
47
Q

Lyme Arthritis

A
  • spirochete Borrelia burgdorferi
  • untreated Pts develop joint symptoms w/i few wks to 2 yrs form onset of dx
  • arthritis is remitting and migratory, affecting large joints esp. knees, shoulders, elbows, ankles
  • chronic papillary synovitis with synoviocyte hyperplasia, fibrin deposition, lymphocyte infiltration, onionskin thickening
  • need serology for diagnosis
48
Q

Gout

A
  • form of inflammatory arthritis produced in response to deposition of sodium urate crystals in periarticular tissues; end reslut of hyperuricemia
  • transient acute attacks of arthritis from crystallization of urates w/i joints - deposition of TOPHI = large aggregates of urate crystals with surrounding inflammatory rxn
  • most Pts develop urate nephropathy - renal disorder assoc w/ deposition of monosodium urate crystals in renal medually interstitium - may form uric acid stones
49
Q

Hyperuricemia to become Gout

A
  • age, genetic predisposition, heavy alcohol consumption, obesity, certain drugs (thiazides), lead toxicity
  • Primary Cause: overproduction of uric acid w/ normal excretion
  • Secondary causes: normal uric acid production w/ under-excretion as seen in chronic renal dx; overproduction of uric acid w/ incr urinary excretion (minority of cases)
50
Q

Classical 4 stages of Gout

A
  1. Asymptomatic hyperuricemia
  2. Acute gouty arthritis (excruciating pain with warmth, redness, tenderness esp. big toe)
  3. asymptomatic intercritical gout
  4. chronic tophaceous
51
Q

Chronic tophaceous arthritis

A

urates heavily encrust articular surfaces and form visible deposits on synovium. Synovium becomes hyperplastic, fibrotic, thickened by inflammatory cells and forms a pannus that destroys cartilage leading to bone erosions

52
Q

Tophi deposits of gout

A

pathognomonic, large aggregates of urate crystals surrounded by intense inflammatory rxn of macrophages, lymphocytes, and giant cells

Pathology of Bones and Joints (1 decks)

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