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Pathology Unit 6 Condensed > Bones, Joints, Soft Tissue > Flashcards

Bones, Joints, Soft Tissue Flashcards

1
Q

What disorder causes dwarfism? What is the mutation causing this? Inheritance?

A

achondroplasia
FGF3 receptor mutation
Aut. Dominant (most are new mutations and not inherited)

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2
Q

Pathogenesis of achondroplasia?

A

failure of epiphyseal cartilage formation

halts chondrocyte prolif. and differentiation

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3
Q

Laron dwarfism mech.

A

defective growth hormone receptor

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4
Q

Osteogenesis imperfecta inheritance and mutation

A

aut. dom.

mut. in gene for type 1 collagen (COL1A1 ir COL1A2)–> encode type 1 procollagen

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5
Q

Mutation in lysyl hydroxylase

A

Ehlers-Danlos

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6
Q

Mutation in fibrillin

A

Marfan Syndrome

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7
Q

recurrent long bone fractures, blue sclera, loose joints, abnormal teeth, poor hearing, child: DX=

A

osteogenesis imperfecta

type 1 collagen mut.

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8
Q

improperly healed fracture withstanding excessive motion and interposition of soft tissue at fracture site–>
*other causes

A

pseudoarthrosis

*infection, poor perfusion

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9
Q

how does precocious puberty affect growth?

A

premature closure of epiphyseal plates–> short stature

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10
Q

viable bone surrounding necrotic bone in osteomyelitis

A

involcrum

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11
Q

what do you call the necrotic bone in osteomyelitis?

A

sequestrum

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12
Q

multiple lytic lesions + keratin-positive cells

A

metastatic carcinoma

  • most common cancer of bone
  • spine most likely location
  • hematogenous spread
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13
Q

What type of metastatic bone cancer produces mostly lytic lesions?

A

thyroid, GI, kidney, neuroblastoma

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14
Q

Metastatic cancers that cause blastic lesions?

A

prostate, breast, lung, stomach

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15
Q

What is another name for “marble bone”/Albers-Schonberg disease?

A

osteopetrosis

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16
Q

failure of osteoclastic bone resorption, most commonly aut. rec., retention of primary spongiosum with cartilage cores, lack of funnelization of metaphysis, thickened cortex

A

osteopetrosis

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17
Q

spontaneous fracture of femoral head + hx of Crohn’s + resection of bowel + thickened osteiod –>

A

osteomalacia = impaired mineralization of osteiod

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18
Q

mutation behind osteosarcoma? age group?

A

Rb tumor suppressor mut.

10-20 y.o.

19
Q

incomplete rim of reactive bone adjacent to site where it is lifted from cortical surface by tumor (Codman triangle), lytic lesion in metaphysis, elevated alk. phos. in a young man. DX

A

osteosarcoma

20
Q

underlying pathology of Legg-Calve-Perthes disease

A 
avascular osteonecrosis (=death of bone and marrow without infection)
causes: trauma, thrombi, emboli, corticosteroids
21
Q

osteonecrosis of femoral head in kids

A

Legg-Calve-Perthes disease

22
Q

most common location of hematogenous ostemyelitis

A

metaphysis of a long bone

23
Q

proximal phalangeal joint: pannus + synovial cell hyperplasia + lymphoid follicles =

A

rheumatoid arthritis

24
Q

term for necrotic bone in osteomyelitis

A

sequestrum

25
Q

9 y.o., 2 wks hip pain, febrile, elevated ESR, X-ray: mottled radiolucent defect in upper femur with abundant periosteal new bone formation; fine needle aspiration shows neutrophils and cocci: Dx?

A

osteomyelitis

26
Q

morning stiffness + painful, swollen, warm finger joints + narrowing of joint spaces + lymphoid follicles + synovial hyperplasia; what kind of Ab will be present?

A

polyclonal Ab against Fc portion of IgG (Rheumatoid arthritis)

27
Q

55 y.o. man + pain in arm + elevated Ca and PTH + multiple small bone cysts + giant cells in cellular fibrous stroma; what is it?

A

osteitis fibrosa cystica from hyperparathyroidism (causes increased bone resorption)

28
Q

fibrosis with reactive woven bone and hemosiderin-laden macrophages, and giant cells =

A

brown tumor/ osteitis fibrosa cystica

29
Q

67 y.o. develops bow legs and hearing loss and bones show prominent CEMENT LINES and increased osteoblastic and clastic activity. Dx?

A

Paget’s Disease!
increased risk for osteogenic sarcoma
*mosaic bone formation

30
Q

HLA___ is assoc. with Reiter Syndrome

A

HLA-B27

31
Q

pathogenesis of osteopenia in postmenopausal women

A

increased osteoclast activity

32
Q

Type 1 osteoporosis pathogenesis

A

increase in osteoclast activity from estrogen withdrawal

33
Q

Type 2 osteoporosis pathogenesis

A

decreased osteoblast activity

34
Q

Ewing Sarcoma translocation

A

t(11:22)

35
Q

young boy + swelling of tibia + destructive process with indistinct borders and onion skin pattern of periosteal bone + small blue cells + PAS +

A

ewing sarcoma

36
Q

age 2-5 + radiolucent bony lesions in calvaria, ribs, pelvis, scapulae + possible exopthalmos + crusty red, weepy skin lesions at hairline and extenso surfaces, abdomen, soles of feet

A

Hand-Schuller-Christian disease (type of langerhans cell histiocytosis)

37
Q

small, painful benign lesions of bone composed of osseus tissue surrounded by halo of reactive bone formation + age 5-25 + spherical hyperemic tumor + nocturnal pain

A

osteoid oseoma

relieved by NSAIDs!

38
Q

locally aggressive neoplasm composed of multinucleated, osteoclastic giant cells

A

Giant cell tumor

39
Q

benign neoplasm histologically similar to osteoid osteoma but larger with no nocturnal pain of relief from NSAIDs

A

osteoblastoma

40
Q

soft tissue tumor with foci of histiocytoma differentiation + common post-radiation therapy + variable morphologic pattern: spindle shaped cells in irregularly whorled (storiform) pattern

A

malignant fibrous histiocytoma

41
Q

soft tissue mass with spindle shaped mesenchymal cells and cuboidal epithelial-like cells (keratin +)

A

synovial sarcoma

42
Q

Ollier disease=

A

Enchondromatosis

43
Q

numerous cartilaginous (hyaline) masses that lead to bony deformities

A

Ollier disease

44
Q

Enchondromatosis increases risk for what?

A

chondrosarcoma

Pathology Unit 6 Condensed (4 decks)

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