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Boards Pathology > MSK > Flashcards

MSK Flashcards

1
Q

Achondroplasia is an _______ _________ inherited condition that involves impaired cartilage proliferation in the growth plate. It is due to an ___________ (activating/inactivating) mutation in _______; most mutations are sporadic

A

Autosomal dominant; Activating; FGFR3

[Clinical features include short extremities with normal-sized head and chest. Mental function, life span, and fertility are not affected]

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2
Q

Osteogenesis imperfecta is a congenital defect of bone formation resulting in weak bone. It is most commonly due to an _____ ______ inherited defect in ___________ synthesis. Clinical features include multiple fractures of bone, blue sclera, and ________ loss

A

Autosomal dominant; type I collagen; hearing

[type ONE collagen in bONE]

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3
Q

What causes blue sclera in osteogenesis imperfecta?

A

Exposure of choroidal veins

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4
Q

Inherited defect of bone resorption resulting in abnormally thick, heavy bone that fractures easily. Clinical features include fractures, anemia, thrombocytopenia, and leukopenia with extramedullary hematopoeisis in the spleen and liver, vision and hearing impairment, hydrocephalus, and renal tubular acidosis

A

Osteopetrosis

myelophthisic process

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5
Q

Osteopetrosis is due to poor _______ function and there are multiple genetic variants. One common example is a _________ mutation, which results in lack of acidic environment required for resorption of bone

A

Osteoclast; carbonic anhydrase II

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6
Q

Treatment for osteopetrosis

A

Bone marrow transplant

[replaces hematopoietic stem cells with healthy ones that are able to generate healthy monocytes/osteocytes/osteoclasts]

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7
Q

Pigeon breast deformity, frontal bossing, rachitic rosary, and bowing of the legs

A

Rickets (pediatric vitamin D deficiency)

[Rachitic rosary = Deposition of osteoid at costochondral junctions]

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8
Q

What changes occur in serum calcium, serum phosphate, PTH, and alkaline phosphatase in osteomalacia?

A

Decreased serum calcium

Decreased serum phosphate

Increased PTH

Increased alkaline phosphatase

[whenever there is increased activity of osteoblasts, alkaline phosphatase is increased. Remember that an acidic environment is needed for osteoclasts to resorb bone, and an alkaline environment is needed for osteoblasts to lay down bone]

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9
Q

Loss of trabecular bone mass resulting in porous bone with increased risk of fracture

A

Osteoporosis

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10
Q

Peak bone mass is reached at roughly age _____ and steadily declines at ~1% per year thereafter.

The 3 factors most important in building up to peak bone are ______, ______, and the _____ receptor inherited from your parents.

The factors important for slowing bone loss after the peak are _____, ______, and _______

A

30

Diet; exercise; vitamin D

Diet; exercise; estrogen

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11
Q

The most common forms of osteoporosis are _____ and _____

A

Senile; postmenopausal

[senile because role of age, postmenopausal d/t loss of estrogen]

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12
Q

Clinical features of osteoporosis include bone pain and fractures in weight bearing areas (i.e., vertebra). Bone density is measured using a DEXA scan.

How do serum calcium, phosphate, PTH, and alkaline phosphatase change in osteoporosis?

A

They all remain normal!

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13
Q

Imbalance between osteoclast and osteoblast function usually seen in late adulthood; etiology is unknown but is possibly viral. Clinical features include bone pain, increased hat size, hearing loss, lion-like faces, and isolated increase in alkaline phosphatase

A

Paget disease of bone

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14
Q

T/F: Paget disease of bone is a localized process involving one or more bones; does not involve entire skeleton

A

True

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15
Q

What are the 3 stages of Paget disease of bone in order?

A
  1. Osteoclastic
  2. Mixed osteoblastic-osteoclastic
  3. Osteoblastic (mosaic pattern of lamellar bone with cement lines)

[end result is thick sclerotic bone that fractures easily]

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16
Q

An isolated increase in alkaline phosphatase may indicate what pathologic process in the MSK system?

A

Paget disease of bone

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17
Q

2 primary treatments for Paget disease of bone

A

Calcitonin (inhibits osteoclasts)

Bisphosphonates (promotes apoptosis of osteoclasts)

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18
Q

2 major complications associated with Paget disease of bone

A

High-output cardiac failure (due to formation of AV shunts)

Osteosarcoma (malignant tumor of osteoblasts)

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19
Q

Osteomyelitis is an infection of the marrow space and bone, usually occurring in children. It is most often bacterial and arises due to ______ spread. Clinical features include bone pain with fever and leukocytosis. X-ray shows lytic focus surrounded by sclerosis. Diagnosis is made by _________

In terms of bone areas affected, osteomyelitis usually seeds the _____ in children, and the _______ in adults

A

Hematogenous; blood culture

Metaphysis; epiphysis

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20
Q

The most common cause of osteomyelitis is S.aureus. N.gonorrheae can also cause it, particularly in sexually active young adults. ________ is the most common cause in sickle cell disease

A

Salmonella

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21
Q

Common cause of osteomyelitis in a diabetic or IV drug abuser

A

Pseudomonas

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22
Q

Common cause of osteomyelitis in a pt exposed to dog or cat bite/scratch

A

Pasteurella

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23
Q

Cause of osteomyelitis commonly affecting the vertebra

A

TB

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24
Q

Avascular necrosis is an ASEPTIC ischemic necrosis of bone and bone marrow. Complications include osteoarthritis and fracture. What are some common causes of this condition?

A

Trauma or fracture

Steroids

Sickle cell — classic example is dactylitis

Caisson disease — nitrogen gas emboli that lodge in bone

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25
Q

An osteoma is a benign tumor of bone usually arising from surface of _______ bones; often associated with ______ syndrome

A

Facial; Gardner

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26
Q

Familial adenomatous polyposis, fibromatosis in the retroperitoneum, osteomas of the facial bone

A

Gardner syndrome

[remember that fibromatosis is a proliferation of fibroblasts that locally destroys tissue]

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27
Q

Benign tumor of osteoblasts surrounded by rim of reactive bone occurring in young adults <25 y/o and arises in cortex of long bones (e.g., femur)

A

Osteoid osteoma

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28
Q

Osteoid osteoma arises in the cortex of long bones (e.g., femur), most commonly in the region of the ______

A

Diaphysis

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29
Q

19 y/o presents with bone pain in the thigh that resolves with aspirin; imaging reveals a bony mass with a radiolucent (osteoid) core

A

Osteoid osteoma

30
Q

Osteoblastoma is similar to osteoid osteoma as they are both tumors of osteoblasts. What are the 3 key differences that distinguish osteoblastoma?

A

Larger (>2 cm)

Arises in vertebrae (vs. diaphysis with osteoid osteoma)

Presents as bone pain that does NOT respond to aspirin

31
Q

Most common benign tumor of bone

A

Osteochondroma

32
Q

Osteochondroma is a tumor of bone with an overlying cartilage cap; it arises from a lateral projection of the ______ ______. The medulla of the bone is continuous with the medulla of this projection. An important complication to note is that the overlying cartilage of an osteochondroma can transform into a _________

A

Growth plate; chondrosarcoma

33
Q

Malignant proliferation of osteoblasts arising in the METAPHYSIS of long bones, usually the distal femur or proximal tibia. It presents as pathologic fracture or bone pain with swelling

A

Osteosarcoma

34
Q

Osteosarcoma has a peak incidence in teenagers; less commonly seen in the elderly. Risk factors include familial ______ (particular risk factor for kids/teens), and _____ disease and _______ exposure (particular risk factors in elderly)

A

Rb; Paget; radiation

35
Q

Osteosarcoma classically forms in the region of the ________. On imaging it shows a periosteal lift and Codmans angle with sunburst appearance. On biopsy it would show large pleomorphic cells (aka high grade malignant cells) producing _______

A

Metaphysis; osteoid

36
Q

Bone tumor comprised of multinucleated giant cells and stromal cells occurring in young adults

A

Giant cell tumor

37
Q

Giant cell tumors arise in the _____ of long bones, usually distal femur or proximal tibia. It has a _________ appearance on X-ray. It is a locally aggressive tumor and it may recur

A

Epiphysis; soap-bubble

38
Q

Malignant proliferation of poorly differentiated cells derived from neuroectoderm; arises in diaphysis of long bones inside the medullary cavity, usually in male children and sometimes accompanied by fever. Shows ‘onion-skin’ appearance on x-ray and is associated with t(11;22) translocation

A

Ewing sarcoma

[biopsy shows small round blue cells with lymphocytes — don’t confuse with lymphoma or osteomyelitis which do not have associated translocation]

39
Q

Ewing sarcoma is a malignant proliferation of poorly-differentiated cells derived from _______. It arises in the _______ of long bones, usually in male children and is associated with translocation ______

A

Neuroectoderm; diaphysis; t(11;22)

40
Q

T/F: ewing sarcoma often presents with metastasis but is responsive to chemotherapy

A

True

41
Q

What is the only tumor we need to know for boards that grows from the epiphysis of long bones?

A

Giant cell tumor

42
Q

Benign tumor of cartilage that usually arises in medulla of small bones of hands and feet

A

Chondroma

43
Q

Malignant cartilage forming tumor that arises in medulla of pelvis or central skeleton

A

Chondrosarcoma

44
Q

Metastatic tumors are more common than primary tumors of bone; they usually result in ______ (punched-out) lesions, however _____ _____ classically produces osteoblastic (sclerotic) lesions

A

Osteoclastic; prostatic carcinoma

45
Q

Articular cartilage in synovial joints is made up of type ____ cartilage

A

Type II cartilage

46
Q

Pathologic features of degenerative joint disease include disruption of the cartilage that lines the articular surface, _______ of the subchondral bone, and ______ formation resulting in thickening of the joint (classically arises in the DIP and PIP joints of the fingers where it is called ____ and ______ nodes)

A

Eburnation; osteophytes; heberden; bouchard

47
Q

Rheumatoid arthritis is a chronic, systemic autoimmune disease more commonly seen in middle-aged women. It is associated with HLA ____.

It is characterized by involvement of joints. The hallmark is synovitis leading to ______ formation (thick layer of inflamed granulation tissue). This leads to destruction of cartilage and ankylosis of the joint

A

HLA-DR4

Pannus

48
Q

Clinical features of RA include joint space narrowing, loss of cartilage, and osteopenia, as well as possible fever, malaise, weight loss, and myalgias. Other features include rheumatoid nodules, baker cyst, and LAD.

What are 2 complications affecting the cardiopulmonary system?

A

Vasculitis

Pleural effusions and interstitial lung fibrosis

49
Q

Lab findings in RA include a _____ autoantibody against ________ (rheumatoid factor).

Synovial fluid contains ______ and _____ protein

A

IgM; Fc portion of IgG

Neutrophils; high

50
Q

2 main complications of RA include ____ of chronic disease and secondary _____

A

Anemia; amyloidosis (AA amyloid)

51
Q

Seronegative spondyloarthropathies lack rheumatoid factor, affect the axial skeleton, and are associated with HLA ___

A

HLA-B27

52
Q

Ankylosing spondyloarthritis involves the SI joints and spine, presents with low back pain, and involvement of the vertebral spine leads to fusion of vertebrae. Additional systemic features include ____ and ____

A

Uveitis; aortitis

[aorititis can lead to aneurysm formation as well as aortic regurgitation]

53
Q

Arthritis, urethritis, and conjunctivitis arising in young male adult weeks after GI or C.trachomatis infection

A

Reiter syndrome

54
Q

3 features of Reiter syndrome

A

Arthritis
Urethritis
Conjunctivitis

[cant see cant pee cant climb a tree]

55
Q

Psoriatic arthritis is seen in 10% of cases of psoriasis. It involves axial and peripheral joints, classically the _____ of the hands and feet (‘sausage’ finger or toe)

A

DIP

56
Q

Most common overall cause of infectious arthritis is ________, which is more commonly seen in young adults. The 2nd most common cause is _________, seen in older children and adults

A

N. Gonorrhoeae; S.aureus

57
Q

Inflammatory disorder of the skin and skeletal muscle with unkonwn etiology; some cases are associated with carcinoma (e.g., gastric carcinoma). Characterized by bilateral proximal muscle weakness; distal involvement can develop late in disease

A

Dermatomyositis

58
Q

Describe the typical rash associated with dermatomyositis

A

Rash of upper eyelids (heliotrope rash); malar rash may be seen — don’t confuse with lupus!

Red papules on the elbows, knuckles, and knees (Grotton lesions)

59
Q

Lab findings in dermatomyositis include increased creatinine kinase, positive ANA and ___________ antibody.

Biopsy findings include ______ inflammation with _____ cells, and perifascicular atrophy.

Treatment is _______

A

Anti-jo-1

Perimysial; CD4+

Corticosteroids

[note difference from polymyositis which is ENDOmysial inflammation with CD8+ T cells; remember that perimysium is closer to skin — dermatomyositis]

60
Q

Inflammatory disorder of skeletal muscle characterized by endomysial inflammation consisting of CD8+ T cells with necrotic muscle fibers

A

Polymyositis

[resembles dermatomyositis clinically but skin is not involved]

61
Q

X-linked muscular dystrophy is a degenerative disorder characterized by muscle wasting and replacement of skeletal muscle by _________. It is caused by deletions of _______, which links muscle cytoskeleton to ECM

A

Adipose; dystrophin

[aka Duchennes muscular dystrophy]

62
Q

X-linked muscular dystrophy presents as proximal muscle weakness at 1 year of age. It progresses to involve distal muscles. Initial calf ________ is characteristic findings. Labs show elevated creatinine kinase. Death results from cardiac or respiratory failure, often due to the common involvement of the _______

A

Pseudohypertrophy; myocardium (diaphragm may also be involved)

63
Q

Becker muscular dystrophy is due to a _______ dystrophin that results in clinically milder disease

A

Mutated

[as opposed to deleted in DMD]

64
Q

Myasthenia gravis is more commonly seen in women and involves autoantibodies against what?

A

Postsynaptic ACh receptor at NMJ

65
Q

In myasthenia gravis, there is muscle weakness that worsens with use and improves with rest. It classically involves the eyes leading to ptosis and diplopia.

Symptoms improve with _________ agents. MG is also associated with ______ hyperplasia or ______

A

Anticholinesterase; thymic; thymoma

[removal of thymus —> improvement]

66
Q

Lambert-Eaton syndrome arises as a paraneoplastic syndrome, most commonly due to ________________. It involves antibodies against ________________

A

Small cell carcinoma; presynaptic calcium channels at the NMJ (leads to impaired ACh release)

[improves with resection of cancer]

67
Q

How are clinical features of Lambert Eaton different from MG?

A

With lambert eaton, there is proximal muscle weakness that IMPROVES with use

The eyes are usually spared

Anticholinesterase agents do not improve symptoms

68
Q

Most common malignant soft tissue tumor in adults

A

Liposarcoma

69
Q

Liposarcoma is a malignant tumor of adipose tissue; the characteristic cell is the _____

A

Lipoblast

70
Q

Rhabdomyoma is a benign tumor of skeletal muscle. A cardiac rhabdomyoma is associated with ____ ___

A

Tuberous sclerosis

71
Q

Most common malignant soft tissue tumor in children

A

Rhabdomyosarcoma

72
Q

Rhabdomyosarcoma is a malignant tumor of skeletal muscle. The characteristic cell is the _______, which is ______-positive. The most common site is head and neck, however the _____ is a classic site in young girls

A

Rhabdomyoblast; desmin; vagina (sarcoma botryoides)

Boards Pathology (19 decks)

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