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Yr 2 - Clinical Pathology > Diseases of MSK > Flashcards

Diseases of MSK Flashcards

1
Q

What is ‘soft tissue’?

A

Non-epithelial extra skeletal structures exclusive of supportive tissue of organs and lymphoid/haematopoietic tissue

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2
Q

Name a benign tumour arising from;

a) fat tissue
b) fibrous tissue
c) smooth muscle
d) blood vessel
e) lymphatics
f) peripheral nerves

A

a) lipoma
b) fibroma
c) leiomyoma
d) haemangioma
e) lymphangioma
f) neuroma

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3
Q

Is lymph node involvement common in sarcomas?

A

No - tend to spread via blood

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4
Q

What genetic condition predisposes you to tumours growing along your nerves (i.e. neurofibromas)?

A

Neurofibromatosis Type 1

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5
Q

What are the 4 main syndromes associated with soft tissue tumours? What type of tumours do each of them cause?

A

1) Neurofibromatosis Type 1 –> neurofibromas
2) Gardner syndrome –> fibromatosis
3) Carney syndrome –> myxoma, melanotic schwannoma
4) Turner syndrome (monosomy X) –> cystic hygroma

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6
Q

What is the most common symptom of NF1?

A

The most common symptom of NF1 is the appearance of painless, coffee-coloured patches on the skin, called café au lait spots.

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7
Q

Are the tumours of NF1 typically malignant or benign?

A

Tumours usually benign but may cause a range of symptoms

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8
Q

What is fibromatosis?

A

A condition where fibrous overgrowths of dermal and subcutaneous connective tissue develop tumours called fibromas.

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9
Q

What is familial adenomatous polyposis (FAP)?

A

A genetic conditions characterised by multiple colorectal polyps

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10
Q

What is Gardner syndrome? What type of cancer does it predispose you to?

A

A form of familial adenomatous polyposis (FAP).

High risk of developing colorectal cancer at early age.

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11
Q

How can Gardner syndrome manifest?

A

May manifest as aggressive fibromatosis of the retroperitoneum

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12
Q

What 2 types of tumours does Carney syndrome predispose you to?

A

1) Myxoma (spotty skin pigmentation)

2) Melanotic schwannoma (a rare form of pigmented neural tumour)

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13
Q

What is Turner syndrome?

A

Genetic condition in which a female is partially or completely missing an X chromosome

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14
Q

What type of tumour does Turner syndrome predispose you to?

A

Cystic hygroma

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15
Q

What is a cystic hygroma?

A

Fluid-filled sac resulting from blockage in lymphatic system (most commonly located in neck or head area)

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16
Q

Diagnosis of soft tissue tumours?

A

o Ultrasound guided core biopsy
o Wide excision
o Cytogenetics; culture of fresh tissue and karyotypic analysis
o Molecular genetics; FISH and PCR and RT-PCR

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17
Q

2 types of benign bone tumours?

A

Osteomas and osteoblastomas

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18
Q

Name of a benign cartilage tumour?

A

Chondroma

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19
Q

Name of a malignant bone tumour?

A

Osteosarcoma

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20
Q

Typical age group of osteosarcomas?

A

Young

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21
Q

Commonest site of osteosarcomas?

A

Around the knee (60%)

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22
Q

Name of a malignant cartilage tumour?

A

Chondrosarcoma

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23
Q

What is Ewing’s sarcoma?

A

A very rare type of cancerous tumour that grows in your bones or the soft tissue around your bones

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24
Q

What is a Giant cell tumour?

A

A rare, aggressive non-cancerous tumour that usually develops near a joint at the end of the bone.

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25
Q

What are the 5 main types of tumour that metastasise to bone?

A
  1. Thyroid
  2. Breast
  3. Prostate
  4. Kidney
  5. Lung
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26
Q

Typical gender affected by SLE?

A

Female

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27
Q

Cutaneous symptoms of SLE?

A

Butterfly rash is typical affecting the bridge of nose and the cheeks

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28
Q

Cardiac symptoms of SLE?

A

cardiomegaly, endocarditis

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29
Q

CNS symptoms of SLE?

A

important cause for morbidity and mortality –> convulsions, hemiplegia

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30
Q

Renal symptoms of SLE?

A

45% of patients develop nephrotic syndrome/glomerulonephritis

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31
Q

What is systemic sclerosis?

A

Rare chronic disease of unknown cause characterised by diffuse fibrosis and vascular abnormalities in the skin, joints and internal organs

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32
Q

Pathogenesis of systemic sclerosis?

A

Complex and poorly understood but vessel damage, inflammatory response and cytokines

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33
Q

There is a limited form of systemic sclerosis. What is this called?

A

CREST syndrome

34
Q

What characterises crest syndrome?

A

Limited cutaneous involvement + oesophageal involvement and SI malabsorption;

Calcinosis
Raynaud's phenomenon
Esophageal dysfunction
Sclerodactyly
Telangiectasia
35
Q

What is calcinosis?

A

Calcinosis is the formation of calcium deposits in any soft tissue.

36
Q

What is sclerodactyly?

A

A hardening of the skin of the hand that causes the fingers to curl inward and take on a claw-like shape.

37
Q

What is telangiectasia?

A

A condition in which widened venules cause threadlike red lines or patterns on the skin

38
Q

What is polymyalgia rheumatica?

A

An inflammatory disorder that causes widespread aching, stiffness, pain in the muscles of neck, limb girdles and upper limbs and flu-like symptoms.

39
Q

What other disease is polymyalgia rheumatica associated with?

What are the symptoms of this?

A

Associated with giant cell arteritis; affects occipital or facial arteries
o Pyrexia, headache and severe scalp pain

40
Q

Define myopathy

A

Muscle disease unrelated to any disorder of innervation or neuromuscular junction

41
Q

Define myositis

A

Muscle fibres and overlying skin are inflamed and damaged resulting in muscle weakness

42
Q

What is malignant hyperthermia? Symptoms?

A

A type of severe reaction that occurs in response to particular medications used during general anaesthesia;

o	Fast RISE in body temperature (to 105-degree F or higher) and severe muscle contraction when the affected person gets general anaesthesia 
o	Muscle rigidity 
o	High fever 
o	Fast heart rate 
o	Dark brown urine 
o	Bleeding
43
Q

What is rhabdomyolysis?

A

Destruction of skeletal muscle and release of muscle fibre content into blood.

44
Q

How does rhabdomyolysis cause myoglobinuria?

A
  • Myoglobin is released into the blood stream from muscle

* Filtered through the kidney and enters urine –> myoglobinuria (brown urine)

45
Q

Presentation of myoglobinuria?

A

Brown urine

46
Q

Rhabdomyolysis is not always a disease but can be a result of other causes.

Give some examples of some other causes;

A 
o	Trauma, crush injuries
o	Drugs; cocaine, amphetamine
o	Extreme temperature
o	Severe exertion-marathon running
o	Lengthy surgery
o	Severe dehydration
o	Important complication- acute renal failure
47
Q

What is arthritides?

A

Inflammation of a join causing pain and stiffness

Not a single disease but seen in 100s of diseases

48
Q

Symptoms of acute arthritides?

A

pain, heat, redness & swelling

49
Q

What are the 2 commonest types of chronic arthritides?

A

1) osteoarthritis

2) rheumatoid arthritis

50
Q

What is the commonest type of joint disease?

A

Osteoarthritis?

51
Q

What characterises osteoarthritis?

A
  • Progressive erosion of articular cartilage

* Results in the formation of bony spurs and cysts at the margins of joints

52
Q

What systemic diseases can often underly osteoarthritis?

A

diabetes and marked obesity

53
Q

Common place of osteoarthritis in men vs women?

A

Women - knees and hands

Men - hip

54
Q

Pathogenesis of OA? What cell is implicated?

A

CHONDROCYTES

1) Chondrocytes produce interleukin-1 which initiates matrix breakdown
2) Prostaglandin derivatives induces the release of lytic enzymes which prevents matrix synthesis

55
Q

What are Herberden’s nodes?

A

Heberden’s nodes are a symptom of osteoarthritis.

The lumps grow on the joint CLOSEST TO THE TIP of your finger (DIP joint)

56
Q

What are bouchard’s nodes?

A

Symptom of osteoarthritis.

Lumps grow on MIDDLE JOINT of finger (PIPJ)

57
Q

What is rheumatoid arthritis?

A

Chronic systemic disorder principally affecting the joints. Producing a non-suppurative proliferative synovitis causing destruction of articular cartilage and ankylosis of joints.

58
Q

Define ankylosis

A

abnormal stiffening and immobility of a joint due to fusion of the bones.

59
Q

Clinical presentation of rheumatoid arthritis?

A

o Malaise, fatigue and generalised musculoskeletal pain to start off
o Involved joints are swollen, warm, painful and stiff in the morning or after activity.
o Slow or rapid disease course and fluctuates over 4-5 years
o Small joints of the hands and feet are frequently affected-ending in a deformed joint

60
Q

What gene is inherited susceptibility to rheumatoid arthritis (RA) associated with?

A

DRB1 genes encoding the human leukocyte antigen (HLA)-DR4 and HLA-DR1 molecules

61
Q

What are the mediators of joint damage in RA?

A

Cytokines; IL-1/6 and TNF-alpha/beta

62
Q

What is the criteria needed for RA diagnosis?

A 
NEED 4;
o	1) Morning stiffness
o	2) Arthritis in 3 or more joint areas
o	3) Arthritis of hand joints
o	4) Symmetric arthritis
o	5) Rheumatoid nodules
o	6) Serum Rheumatoid factor
63
Q

Autoimmune diagnostic test for RA?

A
  • Rheumatoid factor (indicative but not diagnostic)
  • Anti-CCP (ACPA)

Also analysis of synovial fluid to confirm the presence of neutrophils & inflammatory picture

64
Q

What is the most common cutaneous manifestation of RA?

A

Rheumatoid nodules

65
Q

What 4 diseases are defined as sero-negative arthritides (lack rheumatoid factor)?

A
  • 1) Ankylosing spondylitis
  • 2) Reiter’s syndrome
  • 3) Psoriatic arthritis
  • 4) Enteropathic arthritis
66
Q

What is gout?

A

End point of a group of disorders producing hyperuricaemia

67
Q

Clinical features of gout?

A

o Acute arthritis (transient attacks)
o Chronic arthritis
o Tophi in various sites
o Gouty nephropathy

68
Q

What causes transient gout attacks?

A

Crystallisation of urates within and about joints, leading to chronic gouty arthritis and deposition of masses of urates in joints and other sites (tophi)

69
Q

What is pyogenic osteomyelitis? What organism is mostly likely?

A

Inflammation of bone caused by an infecting organism.

S. aureus is most common

70
Q

What is infective arthritis? Presentation?

A

Joint infection;
• Acutely painful and swollen joints with restricted movements
• Fever, leucocytosis and elevated ESR

71
Q

Predisposing factors to infective arthritis?

A

trauma, IV drug abuse, debilitating illness

72
Q

Clinical features of osteoporosis?

A

o Vertebral factures
o Kyphosis
o Scoliosis

73
Q

2ary causes of osteoporosis?

A

o Endocrine disorders; Hyperparathyroidism, Type1 diabetes
o Neoplasia; Multiple myeloma
o Malnutrition

74
Q

What infection is Paget’s disease of bone caused by?

A

Paramyxovirus infection

75
Q

What is Paget’s disease of bone?

A 
o	Initial osteolytic stage
o	Predominant osteoblastic activity
o	Burnt out osteosclerotic stage
o	Net effect --> gain in bone mass
o	Newly formed bone is disordered and architecturally unsound
76
Q

What can Paget’s disease of bone progress to?

A

o Tumours; Benign & Malignant
o Giant cell tumour; benign tumour
o Malignant; Osteosarcoma, chondrosarcoma, malignant fibrous histiocytoma

77
Q

What is osteomalacia?

A

Defects in matrix mineralisation related to lack of vitamin D

Leads to decreased bone density (osteopenia) but skeletal deformities are not seen

78
Q

How does hyperparathyroidism affect calcium?

A

o Increases bone resorption and calcium mobilisation from the skeleton
o Increases renal tubular reabsorption and retention of calcium

HYPERCALCAEMIA

79
Q

What bone condition can hyperparathyroidism lead to?

A

Osteitis fibrosa cystica; loss of bone mineral with osteoporosis

80
Q

What is renal osteodystrophy?

A 
Skeletal changes of chronic renal disease;
o	Increased osteoclastic bone resorption
o	Delayed matrix mineralization
o	Osteosclerosis
o	Growth retardation
o	Osteoporosis

Yr 2 - Clinical Pathology (80 decks)

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