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2nd U1 Path > Pathoma CH. 18 Musculoskeletal Pathology > Flashcards

Pathoma CH. 18 Musculoskeletal Pathology Flashcards

1
Q

Impaired cartilage proliferation in the growth plate…

A

Achondroplasia

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2
Q

What is a common cause of dwarfism that involves abnormal cartilage growth within the growth plate?

A

Achondroplasia

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3
Q

What is the mutation present in patient with achondroplasia?

A

Activating mutation in fibroblast growth factor receptor 3 (FGFR3)

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4
Q

What is the pattern of inheritance for achondroplasia?

A

Autosomal dominant

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5
Q

Overexpression in what inhibits growth in the disease achondroplasia?

A

Fibroblast growth factor receptor 3 (FGFR3)

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6
Q

What bone formation is affected in achondroplasia and which is not? What clinical features are present because of this?

A

Poor endochondral (formation of cartilage matrix then replaced by bone—long bone growth) bone formation with normal intramembranous (formation of bone without a preexisting cartilage matrix—mechanism for flat bone development) bone formation

Short extremities with normal-sized head and chest

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7
Q

A congenital defect of bone formation→ structurally weak bone, commonly due to an autosomal dominant defect in collagen type I synthesis…

A

Osteogenesis Imperfecta

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8
Q

A 4 year old patient presents with a history of multiple bone fractures. Upon physical exam blue scleras are present and the child has mild hearing loss. What is the most likely diagnosis in this patient?

A

Osteogenesis Imperfecta

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9
Q

What causes the appearance of the blue sclera seen in patient with osteogenesis imperfect?

A

Thinning of scleral collagen revealing the underlying choroidal veins

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10
Q

An inherited defect of bone resorption that results in abnormally thick, heavy bone that fractures easily…

A

Osteopetrosis

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11
Q

What is the cause of osteopetrosis?

A

Poor osteoclast function

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12
Q

What mutation leads to a loss of the acidic microenvironment required for bone resorption resulting in osteopetrosis?

A

Carbonic anhydrase II mutation

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13
Q

Patient presents with multiple bone fractures, anemia, thrombocytopenia, and leukopenia, vision and hearing impairment, hydrocephalus, and renal tubular acidosis. What is the most likely diagnosis in this patient?

A

Osteopetrosis

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14
Q

Why are anemia, thrombocytopenia, and leukopenia with extramedullary hematopoiesis seen in patients with osteopetrosis?

A

Bone replaces marrow

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15
Q

Vision and hearing impairment are seen in osteopetrosis, why?

A

Impingement of cranial nerves

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16
Q

Why is hydrocephalus seen in patients with osteopetrosis?

A

Narrowing of the foramen magnum

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17
Q

Renal tubular acidosis is seen in osteopetrosis, what is the mechanism for this?

A

Carbonic anhydrase II mutation—results in decreased tubular reabsorption of HCO3 leading to metabolic acidosis

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18
Q

What is the treatment for osteopetrosis?

A

Bone marrow transplant—osteoclasts are derived from monocytes

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19
Q

Defective mineralization of osteoid due to low levels of Vit D causing low serum calcium and phosphate, which are used to form the osteoid from osteoblasts…

A

Rickets-children

Osteomalacia- adults

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20
Q

What is required for the activation of Vit D?

A

25-hydroxylation in the liver &

1-a-hydroxylation in the proximal tubule cells of the kidney

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21
Q

What are the 3 organs acted upon by Vitamin D to raise serum calcium and phosphate?

A

Intestine
Kidney
Bone

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22
Q

What are some causes of Vitamin D deficiency?

A 
Decreased sun exposure
Poor diet
Malabsorption
Liver failure
Renal failure
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23
Q

What is the cause of Rickets and what patient population is it seen in?

A

Low Vit D in children, resulting in abnormal bone mineralization

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24
Q

What are the clinical presentations for rickets?

A

Most common in children

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25
Q

What causes frontal bossing seen in patients with rickets?

A

Osteoid deposition on the skull

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26
Q

What causes rachitic rosary seen in patients with rickets?

A

Osteoid deposition at the costochondral junction

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27
Q

What causes osteomalacia and in what patient population is it seen?

A

Low vitamin D in adults

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28
Q

What are the laboratory findings seen in patients with osteomalacia?

A

Decreased calcium
Decreased phosphate
Increased PTH—due to low calcium
Increased alkaline phosphatase

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29
Q

A disease where there is a reduction in trabecular bone mass…

A

Osteoporosis

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30
Q

Osteoporosis results in an increase risk of ______ due to porous bone.

A

Bone fractures

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31
Q

At what age is peak bone mass achieved and what is it based on?

A 
Age 30
Based on:
-Genetics
-Diet
Exercise
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32
Q

What increases the rate at which individual’s loss bone mass after they hit their peak bone mass?

A

Lack of weight-bearing exercise
Poor diet
Decreased estrogen

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33
Q

What are the two most common forms of osteoporosis?

A

Senile

Postmenopausal

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34
Q

What are the clinical features of osteoporosis and how is it distinguished from osteomalacia, which has a similar presentation?

A

Bone pain and fractures in weight-bearing areas such as:
Vertebrae
Hip
Distal radius

Distinguished from osteomalacia with labs→ calcium, phosphate, PTH, and alkaline phosphate are all normal

In osteomalacia→ calcium and phosphate decreased and PTH and alkaline phosphate are elevated

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35
Q

How is bone density measured?

A

DEXA scan

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36
Q

What treatment options for osteoporosis will limit bone loss?

A

Exercise
Vitamin D
Calcium

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37
Q

What treatment option for osteoporosis will induce apoptosis of osteoclasts?

A

Bisphosphonates

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38
Q

What drugs are contraindicated for patients at a high risk of osteoporosis or patient with osteoporosis?

A

Glucocorticoids—worsen osteoporosis

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39
Q

What bone disease is characterized by an imbalance between osteoclast and osteoblast function and is usually seen in late adulthood?

A

Paget disease of bone

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40
Q

What are the three stages of Paget disease of bone and what is the end result?

A

Osteoclastic
Mixed osteoblastic-osteoclastic
Osteoblastic

End result—thick, sclerotic bone that fractures easily

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41
Q

What is seen on biopsy of patients with Paget disease of bone?

A

Mosaic pattern of lamellar bone—puzzle like

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42
Q

A 65 year old male patient presents with bone pain and complaining of increased hat size. Upon physical exam, hearing impairment is found as well as lion-like facies. Labs are drawn and an isolated elevated alkaline phosphatase is found. What is the most likely diagnosis for this patient?

A

Paget disease of bone

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43
Q

What causes the bone pain seen in Paget disease of bone?

A

Microfractures

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44
Q

What causes the increasing hat size seen in Paget disease of bone?

A

Skull is commonly affected—bone will thicken

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45
Q

What causes the hearing loss seen in Paget disease of bone?

A

Impingement on cranial nerve

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46
Q

What cause the Lion-like facies seen in Paget disease of bone?

A

Involvement of craniofacial bones

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47
Q

What disease is the most common cause of isolated elevated alkaline phosphatase in patients who are over the age of 40?

A

Paget disease of bone

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48
Q

Name the two treatment options for Paget disease of bone and the mechanism of each…

A

Calcitonin—inhibits osteoclast function

Bisphosphonates—induces apoptosis of osteoclasts

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49
Q

What are 2 complications that can occur in patients with Paget disease of bone?

A

High-output cardiac failure—due to formation of AV shunts in bone

Osteosarcoma—mutation occurs in osteoblasts causing overgrowth

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50
Q

Infection of the bone marrow and bone, most often seen in children and commonly caused by bacteria…

A

Osteomyelitis

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51
Q

Where does bacteria seed in children with osteomyelitis?

A

Metaphysis—transient bacteremia

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52
Q

Where does bacteria seed in adults with osteomyelitis?

A

Epiphysis—open wound bacteremia

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53
Q

What is the most common bacteria that causes osteomyelitis?

A

Staphylococcus aureus

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54
Q

Sexually active young adults can contract osteomyelitis through what bacterium?

A

N. gonorrhoeae

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55
Q

Patients who have sickle cell disease can contract osteomyelitis through what bacterium?

A

Salmonella

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56
Q

Diabetics or IV drug users can contract osteomyelitis through what bacterium?

A

Pseudomonas

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57
Q

Osteomyelitis caused by the bacterium Pasteurella is associated with _________.

A

Car or dog bite/scratches

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58
Q

Mycobacterium tuberculosis can cause osteomyelitis involving a specific body part. What is this body part and what is the disease involved?

A

Vertebrae—Pott disease

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59
Q

What are the clinical signs and symptoms of a patient who presents with osteomyelitis?

A

Bone pain with systemic signs of infection
-fever
-leukocytosis
Lytic focus (sequestrum) surrounded by sclerosis (involucrum) of bone on X-ray

60
Q

How is the diagnosis of osteomyelitis made?

A

Blood culture

61
Q

Ischemic necrosis of bone and bone marrow caused by trauma, fracture, steroids, sickle cell anemia or caisson disease (Nitrogen gas emboli)…

A

Avascular necrosis

62
Q

What are the 2 most common complications of avascular necrosis of bone?

A

Osteoarthritis and fracture

63
Q

Benign tumor of bone…

A

Osteoma

64
Q

Where is the most common site of an osteoma?

A

Surface of facial bones

65
Q

What syndrome is associated with osteoma formation?

A

Gardner syndrome (familial colorectal polyposis)?

66
Q

A Benign tumor of osteoblasts with a rim of reactive bone, seen in patient

A

Osteoid Osteoma

67
Q

A benign tumor of osteoblasts, arises in the cortex of long bones, and presents as bone pain that resolves with aspirin… What is the significance of knowing the bone pain is controlled with aspirin?

A

Osteoid Osteoma

Bone pain caused by an osteoblastoma can not be resolved with the use of aspirin

68
Q

What is seen on imaging studies when an osteoid osteoma is present?

A

Bony mass with a radiolucent core (osteoid)

69
Q

What is similar to an osteoid osteoma but is larger, arises in vertebrae, and presents as bone pain that does NOT respond to aspirin?

A

Osteoblastoma

70
Q

The most common benign tumor of the bone that presents with an overlying cartilage cap…

A

Osteochondroma

71
Q

Where does an osteochondroma arise from?

A

Lateral projection of the growth plate (metaphysis)

72
Q

What can the overlying cartilage of an osteochondroma transform into?

A

Chondrosarcoma

73
Q

A malignant proliferation of osteoblasts…

A

Osteosarcoma

74
Q

Age what age range is an osteosarcoma most likely to be present?

A

Teenagers

75
Q

What are the risk factors from the development of an osteosarcoma?

A

Familial retinoblastoma
Paget disease
Radiation exposure

76
Q

Where does an osteosarcoma arise from and where are the most common sites of development?

A

Metaphysis

Distal femur or proximal tibia

77
Q

What are the signs and symptoms upon presentation of an osteosarcoma?

A

Pathologic fracture or bone pain with swelling

78
Q

What is seen on imaging of a patient with osteosarcoma?

A

Destructive mass with a sunburst appearance and lifting of the periosteum→ Codman triangle

79
Q

What is seen upon biopsy of an osteosarcoma?

A

Pleomorphic cells that produce osteoid

80
Q

The only bone tumor that arises form the epiphysis of long bones?

A

Giant cell tumor

81
Q

What is comprised within a Giant cell tumor?

A

Multinucleated giant cells and stromal cells

82
Q

What appearance is present upon xray of a giant cell tumor?

A

Soap-bubble appearance

83
Q

A malignant proliferation of poorly-differentiated cells derived from neuroectoderm…

A

Ewing sarcoma

84
Q

Where does an Ewing sarcoma arise from and who is most often affected by an Ewing sarcoma?

A

Arises in the diaphysis of long bones

Male children

85
Q

What appearance is seen on xray of an Ewing sarcoma?

A

Onion-skin appearance→ due to the layers of periosteum

86
Q

What is seen on biopsy of an Ewing sarcoma and how can it be differentiated from lymphoma or chronic osteomyelitis?

A

Small, round blue cells that resemble lymphocytes

11:22 translocation is what differentiates it

87
Q

A benign tumor of cartilage…

A

Chondroma

88
Q

A tumor of cartilage that arises in the medulla of small bones of the hands and feet…

A

Chondroma

89
Q

A malignant cartilage-forming tumor…

A

Chondrosarcoma

90
Q

A malignant cartilaginous tumor that arises in the medulla of the pelvis or central skeleton…

A

Chondrosarcoma

91
Q

What type of carcinoma classically produces osteoblastic lesions?

A

Prostatic carcinoma

92
Q

What is the most common type of arthritis most often due to wear and tear?

A

Degenerative joint disease (osteoarthritis)

93
Q

What are the major risk factors for the development of osteoarthritis?

A

Age (>60)
Obesity
Trauma

94
Q

What are the most common joint affected by osteoarthritis?

A 
Hips
Lower lumbar spine
Knees
Distal interphalangeal joints
Proximal interphalangeal joints
95
Q

What is the classic presentation for osteoarthritis?

A

Joint stiffness in the morning that WORSENS during the day—different from rheumatoid arthritis because that gets better with activity

96
Q

What are Heberden and Bouchard nodes?

A

Pathologic features of osteoarthritis—osteophyte formation that arise in the DIP and PIP, respectively

97
Q

Chronic, systemic autoimmune disease involving the joints and is associated with HLA DR4…

A

Rheumatoid Arthritis

98
Q

Who are the most common individuals to develop rheumatoid arthritis?

A

Women of late childbearing age

99
Q

What are the hallmarks of rheumatoid arthritis?

A

Synovitis leading to the formation of a pannus (inflamed granulation tissue)→ destruction of cartilage and ankylosis of the joint

100
Q

Morning stiffness that improves with activity is a characteristic of what type of arthritis?

A

Rheumatoid Arthritis

101
Q

What are the common sites of involvement of rheumatoid arthritis and is it usually asymmetric or symmetric?

A 
PIP
Wrists
Elbows
Ankles
Knees

Symmetric disease

DIP joints are spared unlike with osteoarthritis

102
Q

What are 3 abnormalities found on xray with rheumatoid arthritis?

A

Joint-space narrowing
Loss of cartilage
Osteopenia

103
Q

Fever, malaise, weight loss, and myalgias are all symptoms of ________ arthritis.

A

Rheumatoid

104
Q

Seen in rheumatoid arthritis—central zone of necrosis surrounded by epitheliod histiocytes, arise in skin and visceral organs

A

Rheumatoid nodules

105
Q

Vasculitis, Baker cyst, pleural effusions, lymphadenopathy and interstitial lung fibrosis are all symptoms that can arise from _______ arthritis.

A

Rheumatoid

106
Q

What autoantibodies are found with rheumatoid arthritis?

A

IgM autoantibody against Fc portion of IgG

107
Q

What two abnormal substances are found in the synovial fluid of a patient with rheumatoid arthritis?

A

Neutrophils

High protein

108
Q

Group of joint disroders characterized by:
Lack of rheumatoid factor
Axial skeleton involvement
HLA-B27 association…

A

Seronegative Spondyloarthropathies

109
Q

What does Ankylosing spondyloarthritis involve?

A

Sacroiliac joints and spine

110
Q

A 31 year old male presents with low back pain involving the vertebral bodies which have fused (bamboo spine). Upon physical examination uveitis (inflammation of the middle layer of eye) and aortitis. Echocardiogram is performed and aortic regurgitation is present. What is the most likely diagnosis in this patient?

A

Ankylosing spondyloarthritis

111
Q

What are the three characteristics of Reiter syndrome?

A

Arthritis
Urethritis
Conjunctivitis

Cant Pee/Cant See/ Cant climb a tree

112
Q

What two infections are common precursors for Reiter syndrome?

A

GI or Chlamydia trachomatis infection

113
Q

Disease involving axial and peripheral joints. DIP joints of the hands and feet are most commonly affected→ sausage fingers and toes…

A

Psoriatic arthritis

114
Q

Arthritis due to N gonorrhoeae or S aureus infection.

A

Infectious arthritis

115
Q

What is the most common cause of infectious arthritis in young adults?

A

N gonorrhoeae

116
Q

What is the 2nd most common caused of infectious arthritis in older children and adults?

A

S aureus

117
Q

Infectious arthritis usually involves just one joint, which is usually the ______.

A

Knee

118
Q

A 24 year old male patient presents with a warm knee joint that has limited range of motion. Upon exam, patient is found to have fever, increased white count, and elevated ESR. Cultures are performed and the patient is found to have an N gonorrhoeae infection. What is the most likely diagnosis in this patient.

A

Infectious arthritis

119
Q

A disease characterized by deposition of monosodium urate (MSU) crystals in tissues, especially joints.

A

Gout

120
Q

What causes gout?

A

Hyperuricemia→ overproduction or decreased excretion of uric acid

121
Q

What are the 3 diseases associated with secondary gout?

A

Leukemia and myeloproliferative disorders
Lesch-Nyhan syndrome
Renal insufficiency

122
Q

How does Lesch-Nyhan syndrome cause secondary gout?

A

X-linked deficiency of hypoxanthine-quanine phosphoribosyltransferase (HGPRT)—used for salvage pathway of purine metabolism products

Presents with mental retardation and self mutilation (bite lips and fingers)

123
Q

What is the mechanism for secondary gout caused my leukemia and myeloproliferative disorders?

A

Increased cell turnover→ hyperuricemia

124
Q

How does renal insufficiency lead to secondary gout?

A

Decreased renal excretion of uric acid

125
Q

What is the usual presentation for acute gout? What are the two most common causes of acute gout?

A

Exquisitely painful arthritis of the great toe(podagra)

Consumption of Alcohol or Meat

126
Q

What can chronic gout lead to?

A

Development of tophi—white, chalky aggregates of uric acid crystals with fibrosis and giant cell reaction in the soft tissue of joints

Renal failure—urate crystals may deposit in kidney tubules

127
Q

What are the laboratory findings seen with gout?

A

Hyperuricemia

Synovial fluid→ needle-shaped crystals with negative birefringence

128
Q

What is pseudogout?

A

Resembles gout clinically but is due to deposition of calcium pyrophosphate dehydrate (CPPD)

129
Q

What is seen within the synovial fluid with pseudogout?

A

Rhomboid-shaped crystals with weakly positive birefringenece

130
Q

Patient presents with bilateral proximal muscle weakness, a rash of the upper eyelids, a malar rash, red papules on the elbows, knuckles, and knees. Lab results shoes increased creatine kinase, positive ANA and anti-Jo-1 antibody and perimysial inflammation with perifascicular atrophy on biopsy. What is the most likely diagnosis for this patient?

A

Dermatomyositis→ inflammatory disorder of the skin and skeletal muscle

131
Q

What is used for the treatment of dermatomyositis?

A

Corticosteroids

132
Q

Inflammatory disorder of skeletal muscle that does NOT involve the skin?

A

Polymyositis

133
Q

What are the clinical features of polymyositis?

A

Resembles dermatomyositis but skin is not involved

Endomysial infllmmation with necrotic muscle fibers seen on biopsy

134
Q

A degenerative disorder that is characterized by wasting and replacement of skeletal muscle by adipose tissue.

A

X-linked muscular dystrophy

135
Q

What causes X-linked muscular dystrophy?

A

Defects of dystrophin gene

136
Q

What is the cause of Duchenne’s muscular dystrophy?

A

Deletion of dystrophin

137
Q

What is the presentation of Duchenne muscular dystrophy?

A

Proximal muscle weakness at 1 year of age
Calf pseudohypertrophy
Elevated creatine kinase

138
Q

What are the two most common causes of death with Duchenne muscular dystrophy?

A

Cardiac or respiratory failure

139
Q

Why does Becker muscular dystrophy present with much milder disease?

A

Its due to a mutated dystrophin gene and not an absent one, therefore there is still some structural support.

140
Q

Benign tumor of adipose tissue…

A

Lipoma

141
Q

Malignant tumor of adipose tissue…

A

Liposarcoma

142
Q

What is the characteristic cell of a liposarcoma?

A

Lipoblasts

143
Q

Benign tumor of skeletal muscle…

A

Rhabdomyoma

144
Q

Cardiac rhabdomyoma is associated with what?

A

Tuberous sclerosis→ genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

145
Q

Malignant tumor of skeletal muscle…

A

Rhabdomyosarcoma—most common malignant soft tissue tumor in childten

146
Q

What is the characteristic cell of Rhabdomyosarcoma and what is this disease positive for?

A

Rhabdomyoblasts and is desmin positive

147
Q

What is the most common site for Rhabdomyosarcoma to occur?

A

Head and neck

Vagina is the classic site in young girls

2nd U1 Path (6 decks)

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