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Musculoskeletal System > 2 - Pathology > Flashcards

2 - Pathology Flashcards

1
Q

Describe denervation spinal muscular atrophy

A

Progressive infantile motor neuron disease
Autosomal Recessive
Selectivity to destroy anterior horn cells and cranial nerve motor neurons

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2
Q

What is the most common form of denervation spinal muscular atrophy?

A

Werdnig-Hoffmann disease
Birth to 4 months (SMA 1?)
Severe Hypotonia (Floppiness)

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3
Q

Describe Duchenne Muscular Dystrophy

A

X-Linked Muscular Dystrophy
Manifests - ~5yrs old
Most common/severe form of dystrophy

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4
Q

Describe Becker Muscular Dystrophy

A

Same genetic locus as DMD

Less common/severe

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5
Q

What are the histopathologic findings common to both BMD and DMD?

A

Regenerating muscle fibers
Proliferation of endomysial connective tissue
Later stages: replacement of muscle by fat and connective tissue

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6
Q

What histopathologic findings are unique to DMD?

A

Enlarged Hyaline Fibers (Between Muscle Fibers)

- Hypercontracted

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7
Q

Describe the common findings in boys with DMD

A

Normal at birth - early motor milestones met
Delayed walking
First indications: clumsiness, inability to keep up with peers, begins in pelvic girdle muscles, extends to the shoulder girdle

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8
Q

What does serum CK have to do with DMD and BMD?

A

Serum creatine kinase is increased for the first decade of life then begins to decrease as muscle mass decreases.

There is a markedly high level of CK in DMD patients

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9
Q

What are the findings in boys with BMD?

A

Develop symptoms at a later age than in DMD
So, slower onset AND slower progression
May have a near normal life span
Commonly see cardiac disease in these patients

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10
Q

Describe Myotonic Dystrophy

A

Autosomal Dominant
Cardinal Symptom —- Myotonia: sustained involuntary contraction of a group of muscles (can be tested with percussion of the thenar eminence)
Complaints of stiffness
Difficulty releasing grip

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11
Q

Describe the changes in skeletal muscle in patients with MMD?

A

Variation in fiber size
Striking increase in the number of internal nuclei
*Ring Fiber: subsarcolemmal band of cytoplasm that contains circumferentially oriented myofibrils surrounding the longitudinally oriented fibrils in the rest of the fiber.

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12
Q

Describe the clinical course of MMD

A

Presents in late childhoood
Abnormalities in gait (due to weakness in dorsiflexion)
Progression to weakness in hand intrinsic muscles and wrist extensors
Atrophy of muscles (face, ptosis)
Development of cataracts

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13
Q

What is the most important implication in patients who exhibit ion channel myopathies?

A

Malignant Hyperthermia - rare condition, marked hypermetabolic state, triggered by anesthetics

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14
Q

What anesthetics are well known for triggering malignant hyperthermia?

A

Halogenated Inhalational Agents

Succinylcholine

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15
Q

Where does the mutation affect ion channesl

A

L-type voltage dependent Ca2+ calcium channels on ryanodine receptors in muscle

Dx/ exposure of biopsied muscle to anesthetic will cause a contraction

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16
Q

Describe Thyrotoxic Myopathy

A

Acute/Chronic both, proximal muscle weakness
History will likely precede with thyroid issues
Exopthalmic opthalmoplegia (owl look)

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17
Q

Describe Ethanol Myopathy

A

Brought on by binge drinking
Acute myopathy, and muscle breakdown (rhabdomyolysis), myoglobinuria (red urine).
Localized pain
Could lead to renal failure

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18
Q

Describe Drug-Induced Myopathy

A

Steroids can cause muscle weakness (atrophy of type II fibers)

Chloroquinione (anti-malarial) - proximal myopathy, vacuoles within myocytes on histopathology

Statin-induced: most common complication of statins

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19
Q

What is myasthenia gravis

A

Muscle autoimmune disease, worsening weakness, diplopia, ptosis

Caused by autoantibodies to post synaptic Ach receptor

Thymic hyperplasia (65% of affected pts)

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20
Q

How does one treat myasthenia gravis?

A

Ache inhibitor agents can basically reverse symptoms

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21
Q

Describe lambert-eaton myesthenic syndrome

A

Associated with small cell lung cancer
autoantibodies to presynaptic ca2+ channel which decreases ach release
proximal weakness, autonomic issues (drymouth
Ache inhibitors have little effect

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22
Q

How do you differentiate myasthenia gravis from labert-eaton?

A

Myasthenia gravis - worsens with muscle use, and responds well to ache inhibitors

Lambert-eaton - gets better with muscle use and does not respond to ache inhibitors

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23
Q

Describe the details of sjogren syndrome

A

Autoimmune disorder characterized by destruction of exocrine glands, causing dry everything (notably lacrimal and salivary, also show notable parotid enlargement

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24
Q

What serological markers are helpful in diagnosis of sjogren syndrome?

A

LIP BIOPSY IS ESSENTIAL
ANAs
Antibodies against SS-A (Ro) and SS-B (La) - ribonucleoprotein thingys

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25
Q

What is a sjogren syndrome patient at risk for ?

A

B-cell (marginal zone) lymphoma - which presents with the unilateral parotid enlargement

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26
Q

Describe the details of scleroderma

A

Autoimmune disease characterized by activation of fibroblasts and deposition of collagen (fibrosis)
Diffuse and Limited (CREST)

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27
Q

Describe the symptoms of diffuse systemic scleroderma

A

Anti-DNA topoisomerase I antibody
widespread skin involvement
rapid progression
early visceral (organ) involvement

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28
Q

Describe the symptoms and dx of Limited systemic scleroderma

A

Anti Centromere Antibody**
limited skin involvement confined to fingers and face
CREST:
Calcinosis - calcium deposits in the skin
Raynaud’s - spasms in vessels in response to cold
Esophageal - acid reflux and decreased motility of esophagus
Sclerodactyly - tightening/thickening of skin on fingers
Telangiectasias - dilation of the capillaries cuasing red marks on the surface of the skin

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29
Q

Describe the details of myositis

A

Non-infectious Myopathy
Dx - EMG looking for neurogenic and myopathic changes, elevated CK in serum, BIOPSY required for difinitive dx.

Treatment with immunosuppressants works for dermatomyositis and polymyositis but not for inclusion-body *KEY DIFF

30
Q

Describe Dermatomyositis

A

Chronic inflammatory disorder of muscles + skin
Heliotrope Rash (upper eyelids)
Grotten Lesions(papules - knees/elbows/knuckles)
Progressive symmetrical proximal weakness

31
Q

Patients with dermatomyositis have a greater risk of developing ____________?

A

Visceral Cancers

32
Q

Lab Findings for Dermatomyositis?

A

Lymphocyte infiltrate and Perifasicular atrophy on biopsy
Positive ANA and anti Jo-1 antibody
Increased CK

33
Q

Describe the additional involvements of juvenile dermatomyositis

A

Calcinosis

Abdominal Pain and GI involvement

34
Q

Describe Polymyositis

A

Same as dermatomyositis except no cutaneous involvement (PROXIMAL MUSCLE ATROPHY)
caused by cell-mediated injury to myocytes
characterized by CD8+ Tcells and macrophages present near damaged fibers

35
Q

Describe Inclusion-Body Myositis

A

Different from the other 2 in that it cant be treated with immunosuppressive therapy and it starts from the extremities and moves in
Weakness can be asymmetric
Usually in people over 50

36
Q

What are some dx findings in Inclusion-Body myositis?

A

CD8+ T-Cells found
Intracellular Amyloid Deposits (STAIN WITH CONGO RE)
Rimmed vacuoles within myocytes basophilic granules at the periphery

37
Q

Describe osteogenesis imperfecta and its 4 subtypes

A

“Brittle bone disease”
Deficiency in Type 1 collagen synthesis
Autosomal Dominant Mutations

38
Q

Describe Achondroplasia. What is the causing factor involved in this disease?

A

Major cause of dwarfism due to diseased growth plate
Mutation of the FGFr3 receptor
Autosomal dominant

39
Q

Describe the differences in Type II osteogenesis imperfecta

A

The worst end of the spectrum
Fatal in utero or during the perinatal period
Multiple intrauterine fractures

40
Q

What symptoms are associated with type I osteogenesis imperfecta

A

Blue Sclera - visualization of underlying choroid due to lack of collagen
Hearing loss and dental imperfections
Frequent childhood fractures
Decreased frequency after puberty is reached

41
Q

Describe Osteopetrosis

A

Rare
Characterized by poor bone resorption, diffuse symmetric skeletal sclerosis (due to impaired osteoclast function)
Bones are abnormally strong/thick but very brittle
Narrow neural foramina

42
Q

Describe the sub-type of infantile malignant osteopetrosis

A

Autosomal Recessive
Fractures, Anemia, Hydrocephaly
Cranial Nerve Defects (optic atrophy,
Repeated infections

43
Q

Describe the details of osteoporosis

A

Porous Trabecular Bone Loss, despite normal levels of Ca2+ and PO43-
Most common types

44
Q

What is the risk of oseoporosis based on?

A

Peak bone mass reached in early adulthood and the rate of loss thereafter

45
Q

Describe the morphology of Postmenopausal osteoporosis

A

Increased osteoclast activity due to decreased estrogen levels (Type I)

46
Q

Describe the morphology of Senile Osteoporosis

A

(Type II) - cortex is thinned via subperiosteal and endosteal resorption, haversian systems are widened

47
Q

How do you diagnose osteoporosis?

A

DEXA scan

Quantitative CT

48
Q

What are the most commonly used pharmacologic agents for osteoporosis?

A

Bisphosphonates - bind to bone and inhibit osteoclasts

Calcium/Vitamin D

49
Q

Describe the general characteristics of Paget’s disease

A

aka Osteitis Deformans
Bone remodeling disorder that results in gain in mass but disordered and structurally unsound.
NOT a systemic disease, usually affects one or two bones

Hallmark is mosaic pattern of bone remodeling (purple fibers on H+E stain)

50
Q

What are the three phases of Pagets Disease?

A

Osteoclastic — Mixed Osteoclastic/blastic — Osteoblastic (sclerotic) queiscent stages

51
Q

What are Paget patients at increased risk for?

A

Osteosarcomas and heart problems

52
Q

Describe the conditions of Osteomalacia and Rickets

A

Osteomalacia = adult vitamin D deficiency
- Bone that forms during remodeling process is inadequately mineralized resulting in osteopenia

Rickets = childhood vitamin D deficiency
- Deranged bone growth, soft bones, distinctive skeletal deformities

53
Q

What is osteonecrosis?

A

Infarction in bone usually caused by trauma, high-dose corticosteroids, alcoholism, or sickle cell. Most common site is the femoral head due to insufficient flow in medial circumflex femoral artery.

54
Q

What is an osteoid osteoma? Location usually Found?

A

Benign tumor of osteoblasts surrounded by a rim of reactive bone

Common in the cortex of long bones (FEMUR)
Responds fine to Aspirin

55
Q

What is an osteoblastoma?

A

It is an osteoma that is larger than 2cm and is commonly found in the SPINE, presents with pain that is not successfully treated with Aspirin.

56
Q

Describe the details of an osteosarcoma

Region/Age Group?

A

MALIGNANT proliferation of osteoblasts
Usually in distal femur or proximal tibia (knee region)

*remember can be caused by Pagets disease

20s

57
Q

Describe osteochondromas, including typical sites and classic histopathology.

A

Most common benign bone tumor
Mature bone forms a cartilaginous cap, lateral projection of the
Overlying cartilage can (rarely) transform to a chondrosarcoma

58
Q

Describe chondromas

A

Benign tumor of the cartilage
Composed of hyaline cartilage
Usually in the small bones (hands/fee)

59
Q

What is an enchondroma?

A

A chonroma that occurs in the medullar cavity of a bone

60
Q

What is Ollier’s Disease?

A

A benign proliferation of cartilage in the growth plates of several bones (pictured hands all jacked up)
Causes distorted growth in length or pathological fractures

61
Q

With ollier disease, what is likely to develop down the road?

A

Chondrosarcomas - malignant cartilage tumor

62
Q

What is Maffucci Syndrome?

A

A benign proliferation of cartilage, multiple chondromas associated with benign angiomas that cause the gross looking picture on slide 65 of powerpoint

63
Q

Describe chondrosarcomas

A

Malignant cartilaginous tumors
Usually occur in older people 60s is peak
Common in central axial skeleton (shoulder, pelvis, proximal femur, ribs)

64
Q

Describe Giant Cell tumors of the bone

A

Rare benign bone tumors that occur in the epiphysis of long bones
Soap-Bubble appearance on radiograph

65
Q

Describe Ewing Sarcoma

A

Malignant proliferation of poorly differentiated neuroectoderm cells
Present in usually male kids <15 yrs
Onion skin appearance on x-ray
Biopsy shows what looks like a bunch of lymphocytes
Associated with a 11;22 translocation mutation

66
Q

Describe osteoarthritis

A

Wear and tear joint disease, caused by progressive degeneration of the articular cartilage of joints.
Risk: age>obesity>trauma
Noninflammatory, Non-systemic

67
Q

What is the classic presentation of osteoarthritis?

A

Morning joint stiffness in morning that worsens during the day.
NON INFLAMMATORY
Osteophytes (Spurs) on radiograph

68
Q

Describe rheumatoid arthritis

A

Chronic systemic inflammatory disorder (autoimmune)
Characteristic joint “Pannus” of synovial lining cells
Leads to destruction of cartilage with ankylosis (fusion) of joints.
HLA DR4

69
Q

What is a rhabdomyosarcoma? Details?

A

Most common soft tissue sarcoma
Shows up prior to age 20
Most often in Head/Neck/Genitourinary Tract
Very aggressive (require resection + chemo)

70
Q

What is the most common subtype of rhabdomyosarcoma?

A

Embryonal - typical in nasal cavity, middle ear, prostate, vagina, bile, and paratesticular
Good prognosis

71
Q

What are the types of rhabdomyosarcoma?

A

Botryoides (<10yrs)
Embryonal - common
Pleomorphic
Alveolar

Musculoskeletal System (21 decks)

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