(57b) Diseases of the musculoskeletal system 1 part B Flashcards

1
Q

Soft tissue is derived from what?

A

Mesoderm

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2
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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3
Q

Give some examples of soft tissue

A

Fibrous tissue, adipose tissue, skeletal muscle, blood and lymphatic vasculature, and peripheral nervous system

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4
Q

What is a benign tumour of fat tissue?

A

Lipoma

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5
Q

What is a benign tumour of fibrous tissue?

A

Fibroma

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6
Q

What is a benign tumour of smooth muscle?

A

Leiomyoma

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7
Q

What is a benign tumour of blood vessel?

A

Haemangioma

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8
Q

What is a benign tumour of lymphatics?

A

Lymphangioma

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9
Q

What is a benign tumour of peripheral nerves?

A

Neuroma

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10
Q

What is a MALIGNANT soft tissue tumour?

A

Sarcoma (accounts for 1% of malignancies)

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11
Q

What is the syndromes associated with neurofibroma?

A

Neurofibromatosis type 1

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12
Q

What is neurofibromatosis type 1?

A

A tumour disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division - causes tumours along the nervous system and can grow anywhere on the body. - causes benign skin tumors called neurofibromas

formerly known as von Recklinghausen disease

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13
Q

What is fibromatosis?

A

A group of benign soft tissue tumour which have certain characteristics in common, including absence of cytologic and clinical malignant features, a histology consistent with proliferation of well-differentiated fibroblasts, an infiltrative growth pattern, and aggressive clinical behavior with frequent local recurrence

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14
Q

Which syndrome is associated with fibromatosis?

A

Gardner’s syndrome

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15
Q

What is Gardner’s syndrome?

A

Also known as familial colorectal polyposis - presence of multiple polyps in the colon together with tumors outside the colon -extra-colonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, FIBROMAS and desmoid tumours

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16
Q

What is a myxoid tumour?

A

A connective tissue tumor with a “myxoid” background, composed of clear, mucoid substance

myxoma = a myxoid tumor of primitive connective tissue

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17
Q

Which syndrome is associated with myxoma and melanotic schwannoma?

A

Carney syndrome

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18
Q

What is a cystic hygroma?

A

This is the most common form of lymphangioma - contains large cyst-like cavities containing lymph

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19
Q

Cystic hygroma is associated with which syndrome?

A

Turner syndrome

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20
Q

What is Turner syndrome?

A

Also known as Ullrich–Turner syndrome, gonadal dysgenesis, and 45,X, is a condition in which a female is partly or completely missing an X chromosome

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21
Q

How are soft tissue tumours diagnosed?

A
  • ultrasound guided core biopsy
  • wide excision
  • cytogenetics (culture of fresh tissue and karyotypic analysis)
  • molecular genetics (FISH and PCR and RT-PCR)
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22
Q

What is RT-PCR?

A

Reverse transcription polymerase chain reaction (RT-PCR) is one of many variants of polymerase chain reaction (PCR) - commonly used in molecular biology to detect RNA expression

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23
Q

Name 2 benign bone tumours

A
  • osteoma

- osteoblastoma

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24
Q

What is an osteoma?

A

Bony growths, typically in the skull - it is a benign tumour

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25
What is an osteoblastoma?
Rare primary neoplasm of bone, categorised as a benign bone tumor that is closely related to osteoid osteoma
26
What is a benign cartilage tumour?
Chondroma
27
What is a mixed bone/cartilage tumour?
Osteochondroma
28
What is a malignant bone tumour?
Osteosarcoma - young age group
29
Where is the commonest site for malignant bone tumour (osteosarcoma)?
Around the knee (60%)
30
Name 3 other bone tumours
- chondrosarcomas - Ewing's sarcoma - giant cell tumours
31
What is Ewing's sarcoma?
A malignant small, round, blue cell tumour - cancer cells are found in the bone or in soft tissue. Most common areas = pelvis, femur, humerus, ribs and clavicle
32
What is a giant cell tumour?
Rare, aggressive benign tumor - | characterised by presence of multinucleated giant cells (osteoclast-like cells).
33
Which tumours can metastasise to the bone?
Lead kettle (PB-KTL) - prostate - breast - kidney - thyroid - lung
34
What is SLE?
Systemic autoimmune disease (or autoimmune connective tissue disease) most often harms the SKIN, heart, joints, lungs, blood vessels, liver, kidneys, and nervous system - female predominance
35
What are the cutaneous effects of SLE?
Butterfly rash (bridge of nose and cheeks)
36
What are the cardiac effects of SLE?
- cardiomegaly | - endocarditis
37
What are the CNS effects of SLE?
- convulsions | - hemiplegia
38
What is hemiplegia?
Paralysis of one side of the body
39
What are some potential renal effects of SLE? (45% of patients)
- nephrotic syndrome | - glomerulonephritis
40
What is systemic sclerosis/systemic scleroderma?
An autoimmune disease of the connective tissue - thickening of the skin caused by accumulation of collagen, and by injuries to vessels (=inflammatory response and cytokines) 2 forms - limited cutaneous scleroderma = skin on face, hands and feet. Diffuse cutaneous scleroderma = more skin, kidneys, heart, lungs and GI tract (poor prognosis)
41
What happens with osteoarticular involvement in systemic sclerosis?
- arthralgia (joint pain) | - arthritis
42
What is CREST syndrome?
Also known as the limited cutaneous form of systemic sclerosis (lcSSc) is a multisystem connective tissue disorder. The acronym "CREST" refers to its five main features
43
What are the 5 features of CREST syndrome?
- calcinosis - Raynaud's phenomenon - oesophageal dysfunction - sclerodactyly - telangiectasia
44
What is calcinosis?
The formation of calcium deposits in any soft tissue
45
What is sclerodactyly?
Localised thickening and tightness of the skin of the fingers or toes - often leads to ulceration of the skin of the distal digits and is commonly accompanied by atrophy of the underlying soft tissues
46
What is telangiectasia?
Spider veins - small dilated blood vessels near the surface of the skin or mucous membranes - can develop anywhere on the body but are commonly seen on the face around the nose, cheeks, and chin
47
What is polymyalgia rheumatica?
Syndrome of stiffness, weakness, aching and pain in the muscles of the neck, shoulders and upper arms
48
Polymyalgia rheumatica is associated with what?
Giant cell arteritis
49
What is giant cell arteritis?
Inflammatory disease of large and medium arteries of the head, and neck - also called temporal arteritis Affects occipital or facial arteries
50
What are the symptoms of giant cell arteritis/temporal arteritis?
- pyrexia - headache - severe scalp pain
51
What is myopathy?
Muscle disease unrelated to any disorder of innervation or neuromuscular junction
52
What is myositis?
Inflammation and degeneration of muscle tissue - muscle fibres and overlying skin are inflamed and damaged resulting in muscle weakness
53
What is muscular dystrophy?
A heterogenous group of hereditary conditions marked by progressive severe weakening and wasting of the muscles - begins in childhood
54
What is malignant hyperthermia?
An inherited disease that causes a fast rise in body temperature and severe muscle contractions when given general anaesthesia
55
What is rhabdomyolysis?
Destruction of skeletal muscle causing release of muscle fibre content into the blood (myoglobin) - may cause kidney damage
56
Why do you get brown urine in rhabdomyolysis?
Myoglobin is release into the blood and filtered through the kidney - it enters the urine = myoglobulinuria = brown
57
What are the potential causes of rhabdomyolysis?
- trauma/ crush injuries - drugs eg. cocaine, amphetamine - extreme temperature - severe exertion eg. marathon running - lengthy surgery - severe dehydration
58
What is an important complication of rhabdomyolysis?
Acute renal failure
59
What are metabolic myopathies?
Group of hereditary muscle disorders caused by specific enzymatic defects - heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction eg. glycogen synthesis and degradation/disorders of mitochondrial metabolism
60
What are the signs/symptoms of malignant hyperthermia?
- bleeding - dark brown urine - muscle rigidity - quick rise in body temp to 105 F or higher - discovered during anaesthesia - may have family history