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Pathology Unit 5 > Pathoma: Skeletal System > Flashcards

Pathoma: Skeletal System Flashcards

1
Q

What is achondroplasia?

A

impaired proliferation on the growth plate…dwarfism

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2
Q

Genetic mutation cause of achondopliasia?

A

Activating mutation in fibroblast growth factor receptor 3 (FGFR3)

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3
Q

Process of endochondrial bone formation?

A

Formation of cartilage matrix which is then replaced by bone

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4
Q

Process of intramembranous bone formation?

A

Bone formation without preexisting cartilage matrix

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5
Q

What are the clinical features of someone with achondroplasia?

A

Short extremities with normal sized head and chest

Normal mental function, lifespan and fertility

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6
Q

What is osteogenesis imperfecta?

A

Congenital defect of bone formation resulting in structurally weak bone

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7
Q

What is the mutation found in osteogenesis imperfecta?

A

Collagen type I mutation

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8
Q

Is the OI mutation usually AR, AD, or x linked?

A

AD

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9
Q

Clinical features of OI?

A

Multiple fractures of bone

Blue sclera

Hearing loss

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10
Q

What is osteopetrosis?

A

Inherited defect of bone resorption…thick, heavy bone that fractures easily

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11
Q

Which type of cells are poorly functioning in osteopetrosis?

A

Osteoclasts

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12
Q

Clinical features of osteopetrosis?

A

Bone fractures, bone marrow under production, extramedullary hematopoiesis, vision and hearing impairment, hydrocephalus, renal tubular acidosis

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13
Q

Why is there renal tubular acidosis in osteopetrosis?

A

because it is associated with a CA II mutation (which decreases reabsorption of bicarb and results in a metabolic acidosis)

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14
Q

What is the defect in rickets or osteomalacia?

A

Defective mineralization of osteoid

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15
Q

Which cells produce osteoid?

A

osteoblasts

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16
Q

What is the main cause of rickets or osteomalacia?

A

low vit D–> low Ca and PO4

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17
Q

What are the 3 main actions of vitamin D?

A

Increase intestinal absorption of Ca and PO4

Increase renal reabsorption of Ca and PO4

Increase bone resporption of Ca and PO4

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18
Q

What are the lab findings in osteomalacia?

Ca, PO4, PTH, alkaline phosphate

A

decreased Ca

decreased PO4

increased PTH

increased AP

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19
Q

When does someone have their peak bone mass?

A

30 yo

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20
Q

What is osteoporosis?

A

reduction in trabecular bone mass leading to porous bones with an increased risk of fracture

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21
Q

What is Paget disease of the Bone?

A

Imbalance between osteoblast and osteoclast function

THICK, SCLEROTIC BONE that fractures easily

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22
Q

What are the 3 clinical stages of paget disease of the bone?

A

osteoclastic

Mixed osteoblastic- osteclastic

osteoblastic

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23
Q

What is the histology pattern in Paget disease on biopsy?

A

Mosaic pattern of lamellar bone

24
Q

What are the clinical features of Paget disease?

A

Bone pain, increasing hat size, hearing loss, lion-like facies, isolated elevated alkaline phosphatase

25
Q

What is the treatment for pagets?

A

Calcitonin and bisphosphonates

26
Q

What is osteomyelitis?

A

Infection of marrow and bone

27
Q

What is the main organism that causes osteomyelitis?

A

S. aureus

28
Q

Osteomeylitis in sexually active young adults?

A

N. gornorrhoea

29
Q

Osteomyelitis in sickle cell disease?

A

Salmonella

30
Q

Osteomyelitis in diabetic or IV drug users?

A

Pseudomonas

31
Q

Osteomyelitis in dog/ cat bites?

A

Pasturella

32
Q

Name a benign tumor of bone associated with facial bones and Gardener Syndrome?

A

Osteoma

33
Q

Name a benign tumor of osteoblasts that are surrounded by reactive bone in the cortex of long bones with paint hat resolves with aspirin

A

Osteoid osteoma

34
Q

Benign tumor of osteoblasts, surrounded by reactive bone that arises in vertebrae and is not responsive to aspirin?

A

Osteoblastoma

35
Q

What is a tumor of bone with an overlying cartilage cap?

A

Osteochondroma

36
Q

What osteosarcoma?

A

malignant proliferation of osteoblasts

37
Q

Risk factors of osteosarcoma?

A

retinoblastoma, paget disease, radiation exposure

38
Q

Where in the bone does osteosarcoma usually form?

A

metaphysis of long bones ( in the knee region usually)

39
Q

Imaging for osteosarcoma reveals…

A

destructive mas with a sunburst appearance

Codman triangle

40
Q

What is a tumor comprised of multinucleated giant cells and stroma cells that arise in epiphysis of long bones?

A

giant cell tumor

41
Q

Appearance of giant cell tumors on imaging?

A

soap bubble

42
Q

What is a malignant prolifeation of porly differentiated cells derved from neuroectoderm that is in the diaphysis of long bones

A

Ewing Sarcoma

43
Q

What age is Ewing sarcoma usually seen in?

A

<15 yo

44
Q

Which cancer has a t(11;22) translocation?

A

Ewing sarcoma

45
Q

Appearance of Ewing sarcoma on xray?

A

“onion skin”

46
Q

What is a benign tumor of cartilage that arises in the medullary of small bones of HANDS and FEET?

A

Chondroma

47
Q

What is a malignant cartilage forming tumor that arise in the medulla of pelvis or central skeleton?

A

Chondrosarcoma

48
Q

What is the most common tumor in bone/ cartilage?

A

Metastatic tumors….you see osteolytic lesions

49
Q

What is a benign tumor or adipose tissue?

A

lipoma

50
Q

What is a malignant tumor of adipose tissue?

A

Liposarcoma

51
Q

Lipoblast is the characteristic cell of…

A

liposarcoma

52
Q

What is a benign tumor of skeletal muscle?

A

Rhabdomyoma

53
Q

What is a malignant tumor of skeletal muscle?

A

rhabdomyoscaroma

54
Q

Rhabdoblast is the characteristic cell of…

A

rhabdomyosarcoma

55
Q

Which tumors are desmin (+)?

A

Rhabdomyosarcoma

Pathology Unit 5 (18 decks)

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