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Musculoskeletal > Pathology > Flashcards

Pathology Flashcards

1
Q

what surrounds bundles of muscle fibres?

A

perimysium

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2
Q

what surrounds an entire muscle?

A

epimysium

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3
Q

what surrounds individual muscle fibres?

A

endomysium

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4
Q

what type of stain can be sure to highlight endomysial fibrosis & intracytoplasmic inclusions?

A

modified gomoritrichrome stain

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5
Q

what are the three types of skeletal muscle fibres?

A 
red fibres (type 1)
white fibres (type 2)
intermediate fibres
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6
Q

describe red muscle fibres

A

large mitochondria & lots of myoglobin

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7
Q

describe white muscle fibres

A

small mitochondria & larger motor end plates

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8
Q

when are red muscle fibres useful?

A

slow twitch fibres useful for marathon runners

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9
Q

why are red muscle fibres more resistant to fatigue/

A

have a greater ability to regenerate ATP

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10
Q

when are white muscle fibres useful

A

fast twitch fibres useful for short bursts of energy

fatigue rapidly

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11
Q

what are the two types of type 2 (white) muscle fibres?

A

a - fast oxidative glycolytic

b - fast glycolytic

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12
Q

when should a muscle biopsy be done?

A

if there’s:

  • evidence of muscle disease
  • presence of neuropathy (+ nerve biopsy)
  • presence of a vascular disorder
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13
Q

what evidence of muscle disease would lead you to do a muscle biopsy?

A

weakness
muscle symptoms (atrophy, fasciculation)
elevated CK

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14
Q

what range is indicative of high CK levels & give an example of what this suggests?

A

200-300 times the normal

dystrophies

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15
Q

what range is indicative of intermediate CK levels & give an example of what this suggests?

A

20-30 times the normal

inflammatory myopathy

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16
Q

what range is indicative of low CK levels & give an example of what this suggests?

A

2-5 times the normal

neurogenic disorders

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17
Q

what is electron microscopy used for?

A

to examine the ultra-structure of the muscle

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18
Q

what are the two broad categories of muscle pathology?

A
  • those primarily affecting the muscles

- those affecting muscle due to changes in nerves

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19
Q

what are the 5 main groups of myopathies?

A 
Muscular dystrophies
Inflammatory myopathies
Congenital myopathies
Secondary myopathies 
Metabolic myopathies
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20
Q

name some dystrophic changes

A 
variability in muscle fibre size 
endomysial fibrosis 
fat infiltration & replacement 
myocyte hypertrophy & fibre spilitting (due to actin/myosin bundles splitting in the fibre body)
increased central nuclei 
segmental necrosis 
regeneration 
ring fibres
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21
Q

how are muscular dystrophies classified?

A

according to inheritance pattern, clinical pattern of muscle groups involved and genes responsible

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22
Q

what is the most common inheritance pattern of muscular dystrophies?

A

x-linked recessive

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23
Q

what are the pathological features of muscular dystrophies?

A
  • destruction of single fibres
  • prolonged
  • regeneration
  • fibrosis
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24
Q

what level of severity will frame shift mutation result in with DMD?

A

severe

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25
Q

what level of severity will mutations resulting in altered binding result in with DMD?

A

moderate to severe

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26
Q

what level of severity will middle rod mutations result in with DMD?

A

mild (Becker)

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27
Q

when will DMD come on?

A

2-4 years

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28
Q

what is DMD

A

duchenne muscular dystrophy

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29
Q

what symptoms will be experienced in DMD?

A

proximal weakness (quadriceps), pseudohypertrophy of calves

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30
Q

what will the CK levels be like in DMD?

A

raised

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31
Q

what mutation causes DMD?

A

mutations in dystrophin gene on the long arm of chromosome X

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32
Q

what happens in DMD to cause the symptoms?

A

alterations in anchorage of actin cytoskeleton to basement membrane so fibres are liable to tearing when contracting

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33
Q

what is the histology seen in DMD?

A

muscle fibre necrosis & phagocytosis
regeneration
chronic inflammation & fibrosis
hypertrophy

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34
Q

when will BMD come on?

A

later onset than DMD

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35
Q

what is BMD?

A

Becker muscular dystrophy

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36
Q

what is the mutation in with BMD?

A

mutation in dystrophin

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37
Q

what is BMD?

A

a variant of DMD

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38
Q

what are the most common types of myotonic dystrophy?

A

DM1 & DM2

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39
Q

what are the clinical features of muscle dystrophy?

A

muscle weakness
myotonia
non-muscle features

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40
Q

what kind of inheritance is present in myotonic dystrophy?

A

autosomal dominant

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41
Q

which muscles are affected by myotonic dystrophy in adolescence?

A

face

distal limbs

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42
Q

which muscles are affected by myotonic dystrophy in life later than adolescence?

A

respiratory muscles

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43
Q

what are the non-muscle features of myotonic dystrophy?

A

cataracts
frontal baldness in men
cardiomyopathy
low intelligence

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44
Q

what are the histological features seen in myotonic dystrophy?

A 
atrophy of type 1 fibres 
centreal nuclei 
ring fibres 
fibre necrosis 
fibrofatty replacement
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45
Q

what is the diagnostic histological feature of myotonic dystrophy?

A

non-random selective damage to type 1 fibres

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46
Q

what process causes the damage in myotonic dystrophy?

A

inflammation

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47
Q

what processes causes inflammation in duchennes?

A

the damage causes inflammation

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48
Q

name the 3 inflammatory myopathies caused by primary inflammation of muscle?

A

infective agents
polymyositis
dermatomyositis

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49
Q

what is the cause of polymyositis?

A

unknown

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50
Q

what is polymyositis?

A

chronic inflammatory disease

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51
Q

what are the clinical features of polymyositis?

A

progressive muscular weakness
pain
tenderness

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52
Q

which sex is polymyositis more common in?

A

women

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53
Q

which clinical features of polymyositis are uncommon in dystrophies?

A

pain & tenderness

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54
Q

what is the hallmark clinical feature of polymyositis?

A

pain

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55
Q

what is polymyositis mediated by?

A

cell-mediated immune response to muscle antigens

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56
Q

what infiltrates and invasions are seen in the muscle in polymyositis?

A

edomysial lymphocytic infiltrate

invasion by CD8+ T lymphocytes

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57
Q

what histological features are seen polymyositis?

A

segmental fibre necrosis

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58
Q

what is dermatomyositis?

A

skin changes plus polymyositis

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59
Q

what are the clinical features of dermatomyositis?

A

upper body erythema

swelling of eyelids with purple discolouration

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60
Q

is dermatomyositis associated with malignancy?

A

yes in 10%

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61
Q

what are the histological features of dermatomyositis seen around the capillaries in muscle?

A

immune complex & complement deposition within & around capillaries within muscles

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62
Q

what other histological features of dermatomyositis?

A

perifascicular muscle fibre injury

B-lymphocytes & CD4+ T cells

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63
Q

how do you distinguish between dermatomyositis & polymyositis?

A

look at immunoglobulins

histologically indistinguishable

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64
Q

how is dermatomyositis mediated?

A

cell mediated component

antibody mediated component

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65
Q

what is stereotypically seen in neurogenic disorders of muscle?

A

changes after nerve damage with subsequent re-innervation

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66
Q

what are the 4 neurogenic disorders of muscle?

A

motor neurone disease
spinal muscular atrophy
peripheral neuropathies
miscellaneous spinal disorders

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67
Q

what is seen histologically in neurogenic disorders of muscle?

A
  • small, angulated muscle fibres (adults)
  • smal, round muscle fibres (infants)
  • target fibres
  • fibre type grouping
  • grouped atrophy
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68
Q

what is motor neuron disease?

A

progressive degeneration of anterior horn cells

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69
Q

what is seen clinically in motor neuron disease?

A

dennervation atrophy
fasciculation
weakness

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70
Q

what is fasciculation?

A

uncontrollable twitching in the muscle

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71
Q

what inherited pattern is seen in spinal muscular atrophy?

A

autosomal recessive

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72
Q

what is myasthenia gravis?

A

autoimmune disorder of muscle function

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73
Q

what are the clinical features of myasthenia gravis?

A

weakness
proptosis
fatigue
dysphagia

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74
Q

in which demographic group is myasthenia gravis seen in?

A

women between 20 - 40

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75
Q

what is an uncommon feature of myasthenia gravis?

A

thymic hyperplasia

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76
Q

what happens in rhabdomyolysis?

A

breakdown of skeletal muscle

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77
Q

what does the breakdown of skeletal muscle in rhabdomyolysis lead to?

A

myoglobinuria
hyperkalaemia
necrosis & shock

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78
Q

what is a big trigger of rhabdomyolysis?

A

crush injury
e.g. RTA
drug addicts

79
Q

what renal outcome can occur because of rhabdomyolysis?

A

acute renal failure

80
Q

what metabolic outcomes can occur because of rhabdomyolysis?

A

hypovolaemia
hyperkalaemia
metabolic acidosis

81
Q

what haematological outcome can occur because of rhabdomyolysis?

A

disseminated intravascular coagulation

82
Q

what are the common multi-system features of connective tissue disorders?

A

joint problems
skin
subcutaneous tissues
immunological abnormalities

83
Q

which sex are connective tissue diseases more common in?

A

women

84
Q

what kind of drugs do connective tissue disorders usually respond to?

A

anti-inflammatory drugs

85
Q

what are the connective tissue disease major conditions?

A
  • RA
  • SLE
  • polyarteritis nodosa
  • dermatomyositis & polymyositis
  • polymyalgia rheumatica
  • temporal arteritis
  • scleroderma (systemic sclerosis)
86
Q

what is SLE?

A

autoimmune multisystem disorder

87
Q

which antibody is specific to SLE?

A

anti-nuclear antibodies

88
Q

which sex is SLE more common in?

A

females

89
Q

what SLE features can you see in the skin?

A
  • butterfly rash on sun exposed areas

- discoid lupus erythematosus

90
Q

what SLE features can you see in the joints?

A

arthralgia

91
Q

what SLE features can you see in the kidneys?

A

glomerulonephritis

92
Q

what SLE features can you see in the CNS?

A
  • psychiatric symptoms

- focal neurological symptoms

93
Q

what SLE features can you see in the CVS?

A
  • pericarditis
  • myocarditis
  • necrotising vasculitis
94
Q

what SLE features can you see in the lymphoreticular?

A
  • lymphadenopathy

- splenomegaly

95
Q

what SLE features can you see in the lungs?

A
  • pleuritis

- pleural effusions

96
Q

what haematological features do you see in SLE?

A
  • anaemia
  • leucopenia
  • thombophilia
97
Q

what are the visceral lesions in SLE mediated by?

A

type 3 hypersensitivity in renal, skin & joints

98
Q

what do you see in biopsies of visceral SLE lesions?

A

IgG & C3 in skin

99
Q

what are the haematological effects in SLE mediated by?

A

type 2 hypersensitivity

100
Q

what happens to red blood cells in SLE to cause the haematological effects?

A

direct antibody lysis of RBC

101
Q

what is PAN?

A

inflammation & fibrinoid necrosis of small/medium arteries

102
Q

what are the major organs targeted in PAN?

A

kidneys
heart
liver
GI tract

103
Q

what are the minor organs targeted in PAN?

A 
skin 
joints
muscles 
nerves 
lungs
104
Q

what are the clinical features of PAN?

A

Non-specific +/- organ specific features

e.g. hypertension, haematuria, abdominal pain, melaena, diarrhoea, mononeuritis multiplex, rash, cough, dyspnoea

105
Q

how is PAN diagnosed?

A

biopsy

serology

106
Q

what is seen on biopsy in PAN?

A

fibrinoid necrosis of vessels

107
Q

what is seen on serology in PAN

A

serum contains pANCA

108
Q

which demographic group is polymyalgia rheumatica seen in?

A

elderly

109
Q

what are the clinical features of polymyalgia rheumatica?

A 
pain 
swelling 
stiffness in shoulder 
pelvic girdles 
no muscle weakness
110
Q

which drug type does polymyalgia rheumatica respond to?

A

corticosteroids

111
Q

what is temporal arteritis also known as?

A

giant cell arteritis

112
Q

what is temporal arteritis?

A

inflammation affecting cranial vessels

113
Q

what is a patient with temporal arteritis particularly at risk of?

A

blindness of terminal due to the branches of ophthalmic artery being affected

114
Q

what are the clinical features of temporal arteritis?

A

headache

scalp tenderness

115
Q

how is temporal arteritis diagnosed?

A

raised ESR

temporal artery biopsy

116
Q

what is seen on biopsy of temporal artery in temporal arteritis?

A

inflammation +/- giant cells, fragmentation of internal elastic lamina

117
Q

what is scleroderma?

A

excessive fibrosis of organs and tissues due to excessive collagen production

118
Q

what are the skin features of scleroderma?

A
  • tight
  • tethered
  • decreased joint movement
119
Q

what are the GI tract features of scleroderma?

A

fibrous replacement of muscularis

120
Q

what are the heart features of scleroderma?

A
  • pericarditis

- myocardial fibrosis

121
Q

what are the lung features of scleroderma?

A

interstitial fibrosis

122
Q

what are the kidney features of scleroderma?

A
  • affects arteries

- leads to hypertension

123
Q

what are the MSK features of scleroderma?

A
  • polyarteritis

- myositis

124
Q

what is CREST syndrome?

A
  • calcinosis
  • Raynaud’s
  • oesophageal dysfunction
  • sclerodactyly
  • telangectasia
125
Q

what is CREST syndrome associated with?

A

scleroderma

126
Q

what can death be due to in scleroderma?

A
  • renal failure secondary to malignant hypertension
  • severe respiratory compromise
  • cor pulmonale
  • cardiac failure or arrhythmias secondary to myocardial fibrosis
127
Q

what are the common benign bone tumours?

A

osteochondroma
enchondroma
osteoid osteoma
chondroblastoma

128
Q

what is an osteochondroma?

A

Cartilage capped bony projection arising on external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.

129
Q

what symptoms can osteochondromas sometimes cause which lead to surgical removal of the tumour?

A

pain & irritation

130
Q

what is an enchondroma?

A

Benign hyaline cartilage tumour arising in medullary cavity of bones of hands and feet

131
Q

what is the eponymous name for a single enchondroma?

A

ollier’s disease

132
Q

what is the eponymous name for multiple enchondromas?

A

mafucci’s syndrome

133
Q

what mafucci’s syndrome associated with?

A

multiple angiomas

134
Q

which demographic group are enchondromas seen in?

A

young adults

more common in men

135
Q

what is ollier’s disease?

A

rare developmental disorder resulting in an enchondroma in a metaphases & diaphyses

136
Q

what is the normal pattern of ollie’s disease?

A

typically unilateral & involving one extremity

137
Q

what is maffucci’s syndrome?

A

multiple enchondromatosis with soft tissue and visceral haemangiomas

138
Q

who is at a greater risk of malignant transformation, patients with Maffucci’s syndrome or patients with Ollier’s disease?

A

those with Maffucci’s syndrome

139
Q

what are the histological features of enchondromas under low power?

A

lobules of varying size

140
Q

what are the histological features of enchondromas not under low power?

A

Chondrocytes with small, round, pyknotic nuclei inside hyaline cartilage – no atypia.
Variable cellularity

141
Q

what is an osteoid osteoma?

A

benign osteoblsatic tumour of the bone normally found in femur, tibia, hands/feet & axial skeleton (spine)

142
Q

what demographic are osteoid esteems mostly found in?

A

children & young adults, more common in male

143
Q

what do osteoid osteomas look like?

A

central core of vascular osteoid and peripheral zone of sclerotic bone

144
Q

what is the clinical picture of an osteoid osteoma?

A

dull pain
worse at night
characteristically relieved by aspirin or other NSAIDs

145
Q

what do osteoid osteomas look like on X-ray?

A

radiological nidus surrounded by reactive sclerosis in cortex of bone

146
Q

what are the histological features of osteoid osteomas?

A

Nidus consists of osteoid and woven bone surrounded by osteoblasts.
Central nidus of an osteoid osteoma composed of irregular reactive new bone

147
Q

what is a chondroblastoma?

A

rare benign cartilage tumour arising in bone which can occasionally be more aggressive

148
Q

where are chondroblastomas found?

A

at epiphysis of long bones

149
Q

which age group are chondroblastomas found in?

A

in the second decade of life

150
Q

what do chondroblastomas look like on X-ray?

A

Spherical and well-defined osteolytic foci, sometimes extending into the subarticular bone, joint space or metaphysis

151
Q

what do chondroblastomas look like histologically?

A

much more densely cellular than normal cartilage
Closely packed polygonal cells plus areas of immature chondroid.
Mitotic activity is low.
Distinct cytoplasmic borders with foci of “chicken-wire” calcification.

152
Q

what is the treatment of chondrocostomas?

A

Biopsy and curettage plus adjuvant liquid nitrogen

153
Q

which 3 types of tumour are being but locally aggressive?

A

Giant cell tumour
Osteoblastoma
Chordoma

154
Q

which cell is presumed to be the cell of origin of giant cell tumours?

A

osteoclast

155
Q

which age group are giant cell tumours usually found in?

A

25-40 years

156
Q

which sex are giant cell tumours more common in?

A

women

157
Q

what sites in the body are giant cell tumours found?

A

long bones, often around the knee

158
Q

what do giant cell tumours look like on X-ray?

A

Radiolucent with increasing density towards periphery.

159
Q

what is the gross appearance of giant cell tumour?

A

irregular haemorrhagic mass in the epiphyseal region of proximal femur

160
Q

what are the histological features of giant cell tumours?

A

multi-nucleated giant cells in a sea of round to oval mononuclear cells

161
Q

what do osteoblastomas look like on X-ray?

A

Solitary, benign and self-limited tumour that produces osteoid and bone at the metaphysis or diaphysis of long bones

162
Q

what do osteoblastomas look like histologically?

A

Irregular spicules of mineralised bone and osteoid surrounded by osteoblasts, vascular stroma with pleomorphic spindle cells & osteoid and woven bone are seen

163
Q

what is the treatment of osteoblastomas?

A

surgical resection by curettage, intralesional excision or en bloc resection

164
Q

what are chordomas?

A

Very rare tumour arising from notocord remnants - precursor of your vertebral bodies & intervertebral discs (midline tumour, often in sacral region)

165
Q

in which demographic group do chordomas occur in?

A

older adults (40+yrs), more common in females

166
Q

are chordromas benign or malignant?

A

benign but local destructive and invasive

167
Q

what is the macroscopic appearance of chordromas?

A

Soft, blue-gray, lobulated tumours
Gelatinous translucent areas and often a capsule is present
Lesion often tracks along nerve roots in the sacral plexus or out the sciatic notch in planes of least resistance.

168
Q

what do chordromas look like on x-ray?

A

On plain x-ray - appear as a solitary mid-line lesion with bony destruction, often an accompanying soft tissue mass. Approximately half of the time focal calcifications are present

169
Q

what do chordromas look like histologically?

A

Lobules and fibrous septa. The malignant cell has eosinophilic cytoplasm & prominent vacuoles of mucus push the nuclei to the side.

170
Q

what is the treatment of chordromas?

A

Difficult to resect
Radiation may be helpful
Chemotherapy for late stage disease

171
Q

what is an osteosarcoma?

A

commonest primary malignant tumour formed by malignant osteoblasts forming osteoids

172
Q

which demographic group are osteosarcomas commonly seen in?

A

young adults (

173
Q

where are osteosarcomas found in the body?

A

Ends of long bones particularly distal femur, proximal tibia, and proximal humerus

174
Q

what do osteosarcomas look like on x-rays?

A

tumours erode & destroy the bone cortex, extending into soft tissue where irregular tumor bone with calcification is seen

175
Q

what is essential for the diagnosis of an osteosarcoma?

A

osteoid production

176
Q

what are the 3 histological variants of conventional osteosarcoma?

A

osteoblastic, chondroblastic, and fibroblastic

177
Q

what is the treatment of an osteosarcoma?

A

Biopsy, CT, bone scan
Pre-operative chemotherapy
Surgical resection
Post-operative chemotherapy

178
Q

what is a chondrosarcoma?

A

second commonest primary malignant tumour of bone, exhibits pure hyaline cartilage differentiation

179
Q

what are chondrosarcomas composed of?

A

malignant chondrocytes

180
Q

what is the treatment of chondrosarcomas?

A

wide surgical excision, limited use of chemotherapy & radiotherapy

181
Q

are Ewing’s sarcomas malignant or benign?

A

highly malignant

182
Q

what is a Ewing’s sarcoma?

A

peripheral primitive neuroectodermal tumour

183
Q

where do Ewing’s sarcomas usually occur?

A

in the metaphysics & diaphysis of femur, tibia, then humerus

184
Q

in what demographic group are Ewing’s sarcomas occur?

A

in second decade of life

more common in males

185
Q

what do Ewing’s sarcomas look like histologically?

A

one of the “small round blue cell” tumours

186
Q

what is the treatment of Ewing’s sarcomas?

A

Surgery
Radiation therapy
Chemotherapy with vincristine, dactomycin and cyclophosphamide
Post-operative adjuvant chemotherapy

187
Q

what are the most commonly metastasising cancers?

A

Thyroid , breast, lung (particularly small cell), kidney and prostate

188
Q

what kind of lesion is found at the site of metastases?

A

osteolytic lesions

189
Q

what kind of lesion is found at the site of metastases from prostate cancer?

A

osteosclerotic

190
Q

what is multiple myeloma?

A

Malignant proliferation of plasma cells in bone marrow

191
Q

which age group does multiple myeloma commonly occur in?

A

old age

192
Q

what does multiple myeloma often cause?

A

renal failure

193
Q

what does multiple myeloma result in?

A

bone destruction of axial skeleton, pathological/compression fractures

194
Q

what are the histological features of multiple myeloma?

A

abnormal plasma cells that may be poorly differentiated or resemble normal plasma cells

Musculoskeletal (22 decks)

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