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STEP 1 (2) > Musculoskeletal/Skin/CT- Pathology > Flashcards

Musculoskeletal/Skin/CT- Pathology Flashcards

1
Q

What is achondroplasia?

A

failure of longitudinal bone growth resulting in short limbed dwarfism with normal membranous ossification (large head relative to body)

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2
Q

What causes achondroplasia?

A

activation of FGFR3 which inhibits chondrocyte proliferation

85% of cases are sporadic mutations and the MOI of the hereditary pattern is AD will full penetrance (homozygous is lethal)

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3
Q

How is osteoporosis diagnosed?

A

DEXA with a T-score less than -2.5

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4
Q

Describe Type I osteoporosis

A

post-menopausal, with increased bone resorption as estrogen levels decline

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5
Q

Describe Type II osteoporosis

A

Senile, common in 70+ yo

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6
Q

What are the main tx options of osteoporosis?

A

bisphosphonates

PTH analogs

SERMs

denosumab (MAb against RANKL)

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7
Q

What is osteopetrosis?

A

failure of normal bone resorption due to defective osteoclasts resulting to thickned, dense bones that are prone to fracture

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8
Q

What causes osteopetrosis?

A

Osteopetrosis is caused by underlying mutations that interfere with the acidification of the osteoclast resorption pit, for example due to a deficiency of the carbonic anhydrase enzyme encoded by the CA2 gene. Carbonic anhydrase is required by osteoclasts for proton production. Without this enzyme hydrogen ion pumping is inhibited and bone resorption by osteoclasts is defective, as an acidic environment is needed to dissociate calcium hydroxyapatite from the bone matrix. As bone resorption fails while bone formation continues, excessive bone is formed

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9
Q

What are the symptoms of osteopetrosis?

A
  • bone breaks
  • pancytopenia as bone fills marrow space
  • It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone
  • erlenmeyer flask bones
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10
Q

Lack of vitD in osteomalacia and rickets causes what?

A

failure of osteoid mineralization

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11
Q

What is Paget disease of bone?

A

common, localized disorder of bone remodeling caused by increase in both osteoblastic and osteoclastic activity resulting in partially sclerotic and lytic bone

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12
Q

Paget Disease

A
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13
Q

Paget disease increases the risk of _______

A

osteogenic sarcoma

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14
Q

What are the symptoms of Paget disease?

A

bone fractures/breaks

  • hearing loss
  • head enlargement (hat wont fit)
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15
Q

How does osteonecrosis present?

A

infarction of bone and marrow is very painful

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16
Q

What are the most common causes of avascular necrosis (aka osteonecrosis)?

A

femoral head (#1)- due to insufficiency of medial circumflex femoral a.

scaphoid bone (#2)

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17
Q

What are the major causes of avasular necrosis?

A

ASEPTIC

Alcoholism

Sickle cell disease

Exogenous/endogenous corticosteroids

Pancreatitis

Trauma

Idiopathic (Legg-Calve Perthes disease)

Caisson (‘the bends’)

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18
Q

Describe Legg-Calve Perthes

A

a childhood hip disorder initiated by a disruption of blood flow to the ball of the femur called the femoral head. Due to the lack of blood flow, the bone dies (osteonecrosis or avascular necrosis) and stops growing. Over time, healing occurs by new blood vessels infiltrating the dead bone and removing the necrotic bone which leads to a loss of bone mass and a weakening of the femoral head.

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19
Q

How does osteoporosis present in labs?

A

all normal, just low DEXA

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20
Q

How does osteopetrosis present in labs?

A

all normal, with dense, brittle bones. Ca2+ decresed in severe disease

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21
Q

How does Paget disease present in labs?

A

ISOLATED increased ALP leading to ‘mosaic’ bone architecture

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22
Q

How does osteomalacia/rickets present in labs?

A

decreased Ca2+, PO43-

increased ALP and PTH

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23
Q

How does hypervitaminosis D present in labs?

A

increased Ca and Po4

decreased PTH

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24
Q

What causes hypervitaminosis D?

A

oversupplementation or granulomatous disease like sarcoidosis

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25
Q

What is osteitis fibrosa cystica?

A

Osteitis fibrosa cystica abbreviated OFC, also known as osteitis fibrosa, osteodystrophia fibrosa, and Von Recklinghausen’s disease of bone, is a skeletal disorder caused by hyperparathyroidism.

This surplus stimulates the activity of osteoclasts.

The hyperparathyroidism can be triggered by a parathyroid adenoma, hereditary factors, parathyroid carcinoma, or renal osteodystrophy.

Osteoclastic bone resorption releases minerals, including calcium, from the bone into the bloodstream. In addition to elevated blood calcium levels, over-activity of this process results in a loss of bone mass, a weakening of the bones as their calcified supporting structures are replaced with fibrous tissue (peritrabecular fibrosis), and the formation of cyst-like brown tumors in and around the bone.

The symptoms of the disease are the consequences of both the general softening of the bones and the excess calcium in the blood, and include bone fractures, kidney stones, nausea, moth-eaten appearance in the bones, appetite loss, and weight loss.

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26
Q

How do OFC and primary hyperPTHism present in labs?

A

increased serum Ca2+, ALP, and PTH

decreased PO43-

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27
Q

How does 2ndary hyperPTHism present in labs?

A

decreased Ca2+

increased PO43-, ALP, and PTH

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28
Q

What are some benign bone tumors?

A

Giant cell tumors

Osteochondroma

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29
Q

What is this?

A

Giant cell tumor of bone with ‘soap bubble’ appearance

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30
Q

Where are giant cell tumors found?

A

epiphyseal end of long bones, in 20-40 yo

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31
Q

What is this?

A

osteochondroma, with cauliflower extension

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32
Q

What is the 2nd most common primary malignant bone tumor after MM?

A

Osteosarcoma

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33
Q

Who typically gets osteosarcomas?

A

bimodal: 10-20 yo and 65+

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34
Q

What are the predisposing factors for osteosarcoma?

A

Paget disease of bone

bone infarcts

radiation

familial retinoblastoma

Li-Fraumeni syndrome

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35
Q

Where are osteosarcomas found?

A

metaphysis of bone, often around knee

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36
Q

A Codman triangle is seen in what?

A

osteosarcoma

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37
Q

What mutation is seen in Ewing Sarcoma?

A

t(11,22) causing a EWS-FLI 1 fusion

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38
Q

How does Ewing sarcoma act?

A

extremely aggressive withe arly METS, but responisve to chemo

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39
Q

Osteoarthritis is the mechanical degradation of joint cartilage due to wear and tear. What are some of the classic joint findings?

A

subchondral cysts

sclerosis

osteophytes (bone spurs)

eburnation (polished, ivory-like appearance of bone) (Below)

synovitis

Heberden nodes (DIP) and Bouchard nodes (PIP). No MCP involvement

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40
Q
A
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41
Q

What are the predisposing factors for osteoarthritis?

A

age, obesity, joint trauma

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42
Q

How does osteoarthritis present?

A

pain after use (eg. end of day), improving with rest

Noninflammatory

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43
Q

How is osteoarthritis tx?

A

acetaminophen, NSAIDs, and intra-articular glucocorticosteroids

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44
Q

What causes rheumatoid arthritis?

A

autoimmune rxn causing inflammatory destruction of synovial joints mediated by cytokines and type III and IV hypersensitivity rxns

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45
Q

What are the joint findings of rheumatoid arthritis?

A

-pannus (inflammatory grnaulation tissue) formation in proximal joints (MIP, PIP)

subQ rheumatoid nodules

ulnar deviation of fingers and/or subluxation

swan necking or boutnniere deformities

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46
Q

What are the predisposing factors for RA?

A

female

+ rheumatoid IgG factor or anti-cyclic citrullinated peptide Ab (more specific)

-HLA-DR4

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47
Q

How does RA present?

A

morning stiffness lasting 30+ min and improving with use

symmetric joint involvemnet

fever, fatigue, weight loss,

pleuritis, pericarditis

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48
Q

How is RA tx?

A

NSAIDs

glucocorticoids

DMARDS (methotrexate, sulfasalazine)

TNF-a inhibitors

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49
Q

Sjogrens= autoimmune disorder characteristized by destruction of exocrine glands (especially lacrinal and salivary) by lymphocytic infiltrates

A
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50
Q

What Abs are seen in Sjogrens?

A

antinuclear SS-A (anti-Ro) and SS-B (anti-La)

51
Q

What causes gout?

A

acute inflammatory monoarthritis caused by precipitation of monosodium urate crystals (more common males)

52
Q

What are the main patho causes of gout?

A
  • 90% underexcretion of uric acid - largely idiopathic; can be exacerbated by certain meds (thiazides)
  • overproduction of uric acid (10%)-Lesch Nyhan syndrome, PRPP excess, cell turnover (tumor lysis syndrome), von Gierke disease
53
Q

Gout

A

Gout- NEGATIVELY birefringent under polarized light

54
Q

Gout crystals are _____ under parallel light and _____ under perpendicular light

A

yellow- parallel

blue- perp

55
Q

How does gout present?

A

monoarthritis swelling (MTP joint in big toe)

Tophus formation (often on external ear, olecranon bursa, or Achilles tendon)

56
Q

Why would alcohol use lead to gout?

A

alcohol metabolites compete for the same excretion sites in the kidney as uric acid, decreasing uriac acid secretion and subsequent buildup

57
Q

How is acute gout tx?

A

NSAIDs (indomethacin), glucocorticoids, colchicine

58
Q

How is gout prevented?

A

xanthine oxidase inhibitors (e.g. allopurinol, febuxostat)

59
Q

What causes pseudogout?

A

pain and effusion in a joint, caused by deposition of calcium pyrophosphate crystals with joint spaces forming weakly basophilic, rhomboid crystals

60
Q

What joints does pseudogout commonly affect?

A

large joints like the knee in 50+ yo (both sexes equally affected)

61
Q

What are some diseases associated with pseudogout?

A

hemochromatosis, hyperPTHism, osteoarthritis

62
Q

What are some common causes of infective arthritis?

A

S. aureus, Streptococcus, and Neisseria gonorrhoeae

63
Q

What are seronegative spondylathropathies?

A

arthritis w/out rheumatoid factor, with a strong association with HLA-B27 (codes for MHC class I)- occurs more in males

64
Q

What are the seronegative spondylathropathies?

A

PAIR

Psoriatic arthritis

Ankylosing spondylitis

IBD

Reactive arthritis

65
Q

Describe psoriatic arthritis (seen in less than 1/3 of pts with psoriasis)

A

joint pain and stiffness associated with psoriasis

asymmetric involvement

dactylitis (sausage fingers); ‘pincil in cup’ deformity on xray (below)

66
Q

What things are seen with ankylosing spondylitis?

A

bamboo spine (below)

uveitis

aortic regurg

67
Q

What is the classic triad of reactive arthritis (Reiter syndrome)?

A

Conjunctivitis and anterior uveitis

urethritis

arthritis

“cant see, cant pee, cant climb a tree

68
Q

What are some common causes of Reiter Syndrome?

A

Post-Gi infection (Shigella, Salmonella, Yersinia, Campylobacter)

Chlamydia

69
Q

Who commonly gets Lupus?

A

AA female of reproductive age

70
Q

What are the symptoms of Lupus?

A

RASH OR PAIN

Rash (malar or discoid)

Arthritis

Soft tissues/serositis

Heme disorders (e.g. cytopenias

Oral/nasopharyngeal ulcers

Renal disease, Raynaud phenomenon

Photosensitivity, Positive VDRL/RPR

ANAs

Immunosuppressants

Neurologic disorders (e.g. seizures, phychosis)

71
Q

what are the most common causes of death with lupus?

A

CV disease

Infection

Renal disease

72
Q

What is Libman-Sacks endocarditis?

A

a nonbacterial, wart-like vegetation on both sides of valves seen in SLE

73
Q

What Abs are seen in SLE?

A

ANA (not specific)

Anti-dsDNA Abs (specific, poor prognosis)

Anti-Smith Abs

Antihistone (sensitive for drug-induced lupus)

decreased C3, C4, and CH50

74
Q

Tx of lupus

A

NSAIDs, steroids, immunosuppressants, hydroxychloroquine

75
Q

What is antiphospholipid syndrome?

A

Autoimmune disorder diagnosed on clinical criteria including a hx of thrombosis or spontaneous abortion along with anticardiolipin and/or anti-B2 glycoprotein Abs

76
Q

What is sarcoidosis characterized by?

A

immune-mediated, widespread noncaseating grnaulomas, elevated serum ACE levels, and elevated CD4+/CD8+ ratio commonly in black females

77
Q

How does sarcoidosis present?

A

often asymptomatic except for some LAD

78
Q

How would a CXR of sarcoidosis present?

A

bilateral hilar adenopathy, reticular opacities

79
Q

What are some associations of sarcoidosis?

A

restrictive lung disease (interstitial fibrosis)

erythea nodosum

lupus

Bell palsy

80
Q

What is PMR?

A

pain and stiffness in shoulders and hip, often with fever, malaise, and weight loss, but not muscle weakness

81
Q

Who gets PMR?

A

more common in women 50+ yo, associated with giant cell arteritis

82
Q

Lab findings of PMR?

A

elevated ESR and CRP

normal CK

83
Q

How is PMR tx?

A

rapid response to low-dose steroids

84
Q

Describe fibromyalgia?

A

Most commonly seen in females 20-50 yo and marked by chronic, widespread MS pain associated with stiffness, poor sleep, fatigue, and paresthesias.

Tx with exercise, antidepressants (TCAs, SSRIs), anticonsulvants

85
Q

What are the lab findings of polymyositis/dermatomyositis?

A

elevated CK

positive ANA, anti-Jo-1, anti-SRP, anti-Mi-2 ABs

86
Q

What is polymyositis?

A

A type of chronic inflammation of the muscles (inflammatory myopathy) related to dermatomyositis and inclusion body myositis. The inflammation is predominantly of the endomysium in polymyositis (below), whereas dermatomyositis is characterized by primarily perimysial inflammation

87
Q
A
88
Q

Polymyositis

A

progressive symmetric proximal muscle weakness, characterized by endomysial inflammation with CD8 T cells. Most often involves the shoulders

89
Q

Dermatomyositis

A

also involves a malar rsh, Gottron papules, heliotrope rash, ‘shawl and face’ rash, and mechanic’s hands

90
Q

Dermatomyositis rash on joints (aka Gottron papules)

A

SLE hand rash in between joints

91
Q

What is the main inflammatory cell in polymyositis? dermatomyositis?

A

PM- CD8

DM- CD4

92
Q

What is Myastenia gravis?

A

An autoimmune disorder marked by Abs against postsynaptic ACh receptors resulting in ptosis, diplopia, and muscle weakness

93
Q

What are some associations of MG?

A

thymoma, thymic hyperplasia

94
Q

What is Lambert-Eaton myasthenic syndrome?

A

autoantibodies to presynaptic Ca2+ channels, inhibiting ACh release resulting in proximal muscle weakness, autonomic symptoms (dry mouth, impotence)

Improves with muscle use

95
Q

What is myositis ossificans?

A

metaplasia of skeletal muscle into bone following muscular trauma

96
Q

What is the classic triad of scleroderma (aka systemic sclerosis)?

A

autoimmunity, noninflammatory vasculopathy, and collagen deposition with fibrosis common in women

97
Q

What are the main types of scleroderma?

A

Diffuse and limited

98
Q

Described diffuse scleroderma

A

widespread skin involvemetn, rapi progression, early visceral involvement

99
Q

What Abs are associated with diffuse scleroderma?

A

anti-DNA topoisomerase I antibody

100
Q

Describe limited scleroderma?

A

lmited skin involvement confined to fingers and face. Also with CREST syndrome.

101
Q

What is CREST syndrome

A

syndrome associated with limited scleroderma with calcinosis, raynaud phenomenon, esophageal dysmotility, sclerodactylyl (a localized thickening and tightness of the skin of the fingers or toes), and telangiectasia

102
Q

Limited scleroderma is associated with what Abs?

A

anti-centromere

103
Q
A
104
Q

What prevents paracellular movement of solutes?

A

tight junctions (aka zonula occludens), composed of claudins and occludins

105
Q

What is located below tight junctions, forming belts connecting actin cytoskeletons of adjacent cells with Ca2+-dependent adhesion proteins (aka CADherins)?

A

adherens junction (zonula adherens)

Loss of E-cadherins promotes metastasis

106
Q

What forms structural support among cells via keraton interactions?

A

desmosomes (aka macula adherens)

AutoABs= pemphigus vulgaris

107
Q

What are gap junctions composed of?

A

channel proteins called connexons (permit electrical and chemical communication between cells)

108
Q

What do integrins do?

A

these are membrane proteins that maintain the integrity of BM by binding to collagen and laminin in the BM

109
Q

What do hemidesmosomes do?

A

they connect keratin in basal cells to underlying BM

AutoABs= bullous pemphigoid

110
Q

What would this be classified as?

A

A macule (flat lesion with well-circumscribed change in skin color less than 1 cm)

Ex: freckle, labial macule (front)

111
Q

What would this be classified as?

A

A patch (a macule 1+ cm)

Ex. large birthmark (congenital nevus)

112
Q

What would this be classified as?

A

A macule (elevated solid lesion less than 1cm)

Ex. Mole (nevus), acne

113
Q

What would this be classified as?

A

plaque (papule 1+ cm)

ex. psoriasis

114
Q

What would this be classified as?

A

A vesicle (small fluid-containing blister less than 1 cm)

Ex. chickenpox (varicella), shingles

115
Q

What would this be classified as?

A

a bulla (large fluid-containing blister 1+ cm)

Ex. bullous pemphigoid

116
Q

What is hyperkeratosis?

A

increased thickness of the straum corneum as seen in psoriasis and calluses

117
Q

What is parakeratosis?

A

hyperkeratosis with retention of nuclei in straum corneum (as seen in psoriasis)

118
Q

What is spongiosis?

A

epidermal accumulation of edematous fluid in intercellular spaces

119
Q

What is acantholysis?

A

seperation of epidermal cells (as seen in pemphigus vulgaris)

120
Q

What is acanthosis?

A

epidermal hyperplasia (especially in the spinosum)

121
Q

What causes albinism?

A

normal melanocyte no. with decreased melanin production due to decrease tyrosinase activity or defectiv tyrosine transport. Can also be due to failure of neural crest cell migration during development

122
Q

What is melasma (cholasma)?

A

a characteristic hyperpigmentation associated with pregnancy (aka the ‘mask of pregnancy’) or OCP use

123
Q

What is vitiligo and what causes it?

A

irregular areas of complete digmentation caused by autoimmune destruction of melanocytes

124
Q
A

STEP 1 (2) (16 decks)

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