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Musculoskeletal and Connective Tissue > Pathology > Flashcards

Pathology Flashcards

1
Q

Achondroplasia is a failure of what process which results in which characteristic findings

A

failure of longitudinal growth (endochondrial ossification) leading to short limbs, membranous is unaffected, large head

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2
Q

What receptor is constitutively activated in achondroplasia and what does it do

A

fibroblast growth factor receptor (FGFR3) inhibits chondrocyte proliferation

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3
Q

What percent of these mutations occur sporadically and what parental feature are they associated with

A

85%, advanced paternal age, or auto dominant inheritance

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4
Q

Reduction of primarily trabecular (spongy) bone mass despite nl bone mineralization lab values

A

Osteoporosis

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5
Q

What causes osteoporosis type 1 and when does it typically occur

A

dec estrogen causes inc bone resorption, postmenopausal

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6
Q

Who does osteoporosis type 2 effect

A

men and women > 70, senile osteporosis

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7
Q

What are the classic fractures in pts with osteoporosis

A

vertebral crush fractures, femoral neck fractures, distal radius (Colles’) fracture

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8
Q

What clinical features in vertebral crush fractures

A

acute back pain, loss of height, and kyphosis

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9
Q

What TX prophylax against osteoporisi

A

exercise and Ca ingestion before age 30

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10
Q

What is TX for osteoporosis

A

SERMs, calcitonin, bisphosphates or pulsatile PTH for severe cases

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11
Q

What medication is contraindicated in osteoporosis

A

glucocorticoids

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12
Q

thickened, dense bones that are prone to fracture - dz and primary defect

A

osteopetrosis, abnl fxn of osteoclasts

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13
Q

What are the bone mineralization lab findings in osteopetrosis

A

serum ca, phos, alk phos are NL

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14
Q

Decrease marrow space in osteopetrosis leads to what

A

anemia, thrombocytopenia, infection, extramedullary hematopoiesis

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15
Q

What enzyme defect in responsible for osteopetrosis

A

carbonic anhydrase II

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16
Q

What do xray show in osteopetrosis and what do potential CN abnl result from

A

erlenmeyer flask bones that flare out, narrowed foramina

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17
Q

What does soft bones result from and what is the dz called in adults and children

A

defective mineralization/calcification of osteoid, osteomalacia in adults and ricketts in kids

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18
Q

What causes osteomalacia/ricketts, why, and what therapy can reverse the symptoms

A

vit D def, dec Ca, inc PTH, dec serum phos, reversible when vit D is replaced

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19
Q

What is the defect in Paget’s disease

A

increase in both osteoblast and osteoclast activity

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20
Q

What are the possible origins of the paget’s disease

A

viral, maybe paramyxovirus

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21
Q

What are the bone mineral lab findings in paget’s disease

A

serum ca, phos, PTH are nl alk phos elevated

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22
Q

What are the characteristic bone findings in paget’s disease

A

mosiac bone pattern, long bone chalk stick fractures - increased hat size or hearing loss due to auditory foramen narrowing

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23
Q

What causes heart failure in with Paget’s disease

A

inc blood flow from AV shunts can cause high output heart failure

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24
Q

Patients with pagets disease can develop what cancer

A

osteogenic carcinoma

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25
Q

What are the lab findings in osteoporosis

A

nl, decreased bone mass

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26
Q

What are the lab findings in osteopetrosis

A

nl, thickened dense bones

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27
Q

what are the lab findings in osteomalacia/rickets

A

dec Ca, dec phos, nl alk phos, inc PTH - soft bones

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28
Q

what are the lab findings in osteitis fibrosa cystica

A

inc Ca, dec phos, inc alk phos, inc PTH - brown tumors

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29
Q

what are the lab findings in pagets disease

A

inc alk phos - abnl bone architecture

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30
Q

bone replaced by fibroblasts and irregular bony trabeculae affecting many bones

A

polyostotic fibrous dysplasia

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31
Q

what form of polyostotic fibrous dysplasia has multiple unilateral bones lesions associated with endocrine abnl and unilateral pigmented skin lesions - café au lait or coast of maine spots

A

McCune -Albright syndrome

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32
Q

What kind of endocrine abnl are associated with McCune Albright

A

precocious puberty

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33
Q

What kind of bone tumor is associated with FAP and what is the finding

A

osteoma (gardners syndrome), new piece of bone grows on another bone, often skull

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34
Q

interlacing trabeculae of woven bone surrounded by osteoblasts

A

osteoid osteoma

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35
Q

Where are most osteoid osteoma found and in what population

A

< 2mc found in proximal tibia and femur, men < 25

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36
Q

larger osteoid osteoma found in vertebral column

A

osteoblastoma

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37
Q

Tumor occuring mostly at epiphyseal end of long bones, occuring btw 20 and 40, locally aggressive bening tumor around distal femur and proximal tibia - tumor and characteristic xray findings

A

giant cell tumor (osteoclastoma) - double bubble or soap bubble

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38
Q

What are the histo findings in an osteoclastoma

A

spindle shaped cells with multinucleated giant cells

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39
Q

most common benign tumor, mature bone with cartilaginous cap, men <25, origintate froms long metaphysis

A

osteochondroma, exostosis

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40
Q

osteochondrosis has rare malignant transformation into what cancer

A

chondrosarcoma

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41
Q

bening cartilaginous neoplasm found in intramedullary bone, usually distal extremities

A

endochondroma

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42
Q

2nd most malignant tumor of bone, men 10-20 - cancer, and primary malignant tumor bone

A

osteosarcoma, multiple myeloma

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43
Q

Where is osteosarcoma found in the bone

A

metaphysis of long bones, distal femur

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44
Q

What are predisposing factors for osteosarcoma - xray finding

A

pagets dz, bone infarcts, radiation, familial retinoblastoma, codman’s triangle or sunburst pattern from elevation of periosteum, poor prognsosis

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45
Q

anaplastic small blue cell malignant tumor, most common in boys < 15 - dz and prognosis

A

ewings sarcoma, aggressive with early mets, but responsive to chemo

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46
Q

What is the characteristic appearance of bone, the common translocation, area of, and bones affected

A

onion skin, 11:22, diaphysis of long bones, pelvis, scapula, ribs

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47
Q

malignant cartilaginous tumor in men 30 to 60 - name and common location

A

chondrosarcoma, pelvis, spine, scapula, humerus, tibia, or femur

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48
Q

How is chondrosarcoma described

A

expansile glistening mass within the medullary cavity

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49
Q

mechanical wear and tear of joints leading to destruction of articular cartilage

A

osteoarthritis

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50
Q

subchondreal cysts, sclerosis, osteophytes, joint space narrowing, eburnation, hebereden’s nodes (DIP) bouchard nodes (PIP) - characteristic findings of this dz

A

osteoarthritis

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51
Q

what are the predisposing factors for osteoarthritis

A

age, obesity and joint deformity

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52
Q

What is the classic presentation of osteoarthritis

A

pain in weight bearing joints at the end of the day and improving with rest

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53
Q

Where does cartilage loss begin in osteoarthritis

A

medial aspect

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54
Q

inflammatory disorder affective synovial joints with pannus formation in joints

A

rheumatoid arthritis

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55
Q

What are the characterstic joints affected in RA

A

MCP, PIP - no DIP

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56
Q

What are the subQ rheumatoid nodules made of

A

fibrinoid necrosis surrounded by palisading histiocytes

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57
Q

Other than characteristic joints and subQ nodules, what are the other findings classicly in RA

A

ulnar deviation, subluxation, bakers cysts (behind knee)

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58
Q

What kind of hypersens rxn is RA, and what serum marker is present in 80% of RA pts

A

type III, RF

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59
Q

What antibody is less sensitive than RF but more specific and what is the HLA association

A

anti-CCP, HLA-DR4

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60
Q

What is the classic presentation of RA

A

morning stiffness for > 30 min improving with use, symmetry, systemic sx

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61
Q

What are the systemic symptoms found in RA

A

fever, fatigue, pleuritis, pericarditis

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62
Q

What deformities of the hand are common in RA

A

boutonniere, swan neck, zthumb

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63
Q

What is the classic traid of sjogrens syndrome

A

xeropthalmia, xerostomia, arthritis

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64
Q

What are the associations for sjogrens syndrome

A

parotid enlargement, inc risk of B cell lymphoma, dental caries

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65
Q

What autoantibodies are formed in sjogrens syndrome

A

ribonucleoprotein antigents - SS-A and SS-B (Ro and La)

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66
Q

What is the Sicca syndrome

A

dry eyes, dry mouth, nasal and vaginal dryness, chronic bronchitis, reflux esophagitis and No arthritis

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67
Q

precipitation of monosodium urate crystals into joints due to hyperuricemia

A

gout

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68
Q

What are the potential causes of gout

A

lesch-nyhan, PRPP excess, dec exretion of uric acid (thiazide) inc cell turnover, von Gierke’s dz - 90% due to underexcretion, 10% to overproduction

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69
Q

In which gender is gout more common and what does the crystals appear like microscopically

A

men, needle shaped and negatively birefringent = yellow crystals under parallel light

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70
Q

What are characteristic findings of gout

A

asymmetric, swollen, red, painful joint, often MTP (podagra), tophus formation on external ear, olecranon bursa, achilles tendon

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71
Q

When do acute attacks of gout typically occur

A

after a large meal or EtOH conspumption

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72
Q

Why does EtOH consumption precipitate gout

A

EtOH metabolites compete for same excretion site in kidney as uric acid, causing dec uric acid secretion and subsequent buildup

73
Q

What is the TX for acute gout

A

NSAIDs (indomethacin) colchicine

74
Q

What is the TX for chronic gout

A

allopurinaol, uricosurics (probenicid)

75
Q

Deposition of calcium pyrophosphate cyrstals within the joint space

A

pseudogout

76
Q

What do pseudogout crystals appear like microscopically

A

basophilic, rhomboid crystals, weakly birefringent

77
Q

In which joints does pseudogout typically occur

A

large goints (knee)

78
Q

yellow when parallel and blue when perpendicular

A

gout

79
Q

yellow when perpendicular and blue when parallel

A

pseudogout

80
Q

How does gonococcal arthritis present

A

STD presents as a monarticular, migratory arthritis with an asynmetrical pattern - affected joint is painful, red and swollen

81
Q

Other than N. gono, what organisms can cause infectious, septic arthritis

A

S. aureus, streptococcus

82
Q

What organisms can cause chronic infectious arthritis

A

TB from dissemination and lyme dz

83
Q

Seronegative spondyloarthropathis have what HLA association, and why are they seronegative, and who do they more often occur in

A

B27, no RF, males

84
Q

dactylitis and pencil in cup deformity on xray - patchy skin rash and joint pain

A

psoriatic arthritis - occurs is less than 1/3 of psoriasis pts

85
Q

chronic inflammatory disease of sacroiliac joints and spine - dz, associations

A

ankylosing spondylitis, uveitis, aortic regurg and bamboo spine

86
Q

IBS - 2 dz’s

A

crohns and ulcerative colitis

87
Q

What is the classic triad of reactive arthritis

A

conjunctivitis and anterior uveitis, urethritis and arthritis

88
Q

What are the common perpetrating infections for Reiters syndrome

A

Post GI infxn or chlamydia

89
Q

epi of SLE

A

female between 14 and 45, mostly black

90
Q

What are the most common symtpoms of SLE

A

fever, fatigue, weight loss, nonbacterial verruucous (Liebman-Sacks) endocarditis, hilar adenopathy, Raynauds

91
Q

What are common features of lupus

A

wire-loop lesions in kidney with immune complex deposition, death from renal failure and infxns

92
Q

What do lupus pts falsely test positive for syphillis

A

false positives on syphillis test (RPR/VRDL) due to antiphospholipid antibodies - cross react with cardiolipin

93
Q

What is the primary screening test for lupus

A

ANA - sensitive but not specific

94
Q

What is a very specific test for lupus

A

Anti ds DNA - poor prognosis

95
Q

What test if specific for lupus but doesn’t indicate prognosis

A

Anti Smith

96
Q

What is the test for drug induced lupus

A

anti-histone

97
Q

What does I’M DAMN SHARP stand for

A

immunoglobulins, malar rash, discoid rash, ANA, mucositis (oropharyngeal ulcers), neurologic disorders, serositis (pleuritis, pericarditis), hematologic disorders, arthritis, renal, photosensitivity

98
Q

immune mediated, widespread, non-caseating granulomas - dz, affected population and elevated serum level

A

sarcoidosis, black females, ACE

99
Q

What associations go along with sarcoidosis

A

restrictive lung disease, bilateral hilar lymphadenopathy, erythema nodosum, Bell’s palsy

100
Q

What is contained within epithelial granulomas of pts with sarcoid

A

schaumann (calcium and protein inclusions inside Langhans giant cells) and asteroid bodies

101
Q

What causes hypercalcemia in pts with sarcoid

A

elevated 1 alpha hydroxylase mediated vit D activation in epithloid macrophages

102
Q

Sarcoid TX

A

steroids

103
Q

Pain and stiffness in shoulders and hips, fever malaise and weight loss - no weakness, pts over 50, associated with HA and jaw pain

A

polymyaglia rheumatica associated with temporal (giant cell) arteritis

104
Q

What are defining lab findings for polymyalgia rheumatica and what is the TX

A

elevated ESR and nl CK - prednisone

105
Q

progressive symmetric proximal muscle weakness cause by CD8+ T cell induced injury to myofibers - dz, most common area of involvement and pathgnomonic histological finding

A

polymyositis - shoulders, perifasicular inflammation

106
Q

heliotrope rash “shawl and face” rash, Gotton’s papules, “mechanic’s hands”

A

dermatomyositis

107
Q

What are the lab findings and TX in dermatomyositis

A

inc CK, inc aldolase, and positive ANA and anti Jo-1 - steroids

108
Q

Dermatomyositis places the pt at inc risk for what malignancy in particular

A

lung

109
Q

What is the most common NMJ disorder, what causes it and what are common symptoms

A

Myasthenia gravis, autoAb against ACH receptors causing ptosis, diplopia, general weakness,

110
Q

MG is associated with what neoplasm

A

thymoma

111
Q

What causes the symptoms of MG to worsen, and what is used to diagnose

A

muslce use, nerve stim/compound muscle test

112
Q

Administration of what kind of compound causes reversal of symptoms and what is used to distringuish under from over dosing

A

ACH esterase inhibitors, edrophonium test - improvement of sx after edro means the patient is underdosed

113
Q

What syndrome of the NMJ is a paraneoplastic syndrome and what are the antibodies directed against

A

lamber eaton, presynaptic Ca channels, dec ACH release leading to proximal muscle weakness

114
Q

What cancer in particular are associated with LE syndrome, what happens to symptoms with muscle use or ACH esterase inhibs

A

small cell cancer of the lung, improve with muscle use, no change with ACHE inhibs

115
Q

excessive fibrosis and collagen deposition throughout the body, common in skin manifesting as puffy taut skin with absence of wrinkles

A

scleroderma

116
Q

Besides the skin, what other organ systems are commonly affected by scleroderma and who is primarily affected

A

renal, pulm, CV, GI - 75% female

117
Q

How is diffuse scleroderma characterized

A

widespread skin involvment, rapid progression, early visceral involvement

118
Q

What antibodies is diffuse scleroderma associated with

A

Anti Scl70, anti DNA topoisomerase I antibody

119
Q

What is CREST syndrome and what antibody is it associated with

A

calcinosis, raynauds, esophageal dysmotility, sclerodactyly, telangiectasia - anti centromere antibody

120
Q

Flat discloration <1cm seen in tinea versicolor

A

macule

121
Q

Macule greater than 1cm

A

patch

122
Q

elevated skin lesion <1cm seen in acne vulgaris

A

papule

123
Q

papule > 1cm seen psoriasis

A

plaque

124
Q

small fluid containing blister seen in chickenpox

A

vesicle

125
Q

transiet vesicle seen in hives

A

wheal

126
Q

large fluid containing blisters seen in bullous pemphigoid

A

bulla

127
Q

irregular raised lesion resulting from scar tissue hypertrophy - follows trauma to skin, common to african americans see in T. pertenue (yaws)

A

keloid

128
Q

blister containing pus

A

pustule

129
Q

dried exudates from a vesicle, bulla or pustule seen impetigo

A

crust

130
Q

inc thickness of stratum corneum seen in psoriasis

A

hyperkeratosis

131
Q

hyperkeratosis with retention of nuclei in stratum corneum seen in psoriasis

A

parakeratosis

132
Q

separation of epidermal cells

A

acantholysis

133
Q

epidermal hyperplasia (inc spinosum)

A

acanthosis

134
Q

inflammation of the skin

A

dermatitis

135
Q

Warts, soft, tan-colored, cauliflower type lesions, epidermal hyperplasia, hyperkeratosis, koilocytosis

A

verrucae

136
Q

warts on hands

A

verrucae vulgaris

137
Q

warts on genitals

A

condyloma acuminatum, caused by HPV

138
Q

common mole, benign

A

nevocellular nevus

139
Q

hives, intensely pruritic wheals that form after mast cell degranulation

A

urticaria

140
Q

freckle, normal number of melanocytes, inc melanin pigment

A

ephelis

141
Q

pruritic eruption, commonly on skin flexures, of associated with asthma, allergic rhinitis

A

atopic dermatitis, eczema

142
Q

papules and plaques with silvery scaling, especially on knees and elbows - acanthosis with parakeratotic scaling (nuclei sill in stratun corneum, nail pitting and arthritis

A

psoriasis

143
Q

what changes are seen in stratum spinosum and granulosum in psoriasis

A

inc spinosum, dec granulosum

144
Q

What is the Auspitz sign

A

in psoriasis, bleeding spots when scales are scraped off

145
Q

flat, greasy, pigmented, squamous epithelial proliferation with keratin-filled cyts (horn cysts) - looks pasted on

A

seborrheic keratosis

146
Q

Where do sebhorrheic keratosis lesions occur and in who

A

head, trunk, extremities - common benign neoplasm in older persons

147
Q

What is the sign of Leser - Trelat

A

sudden appearance of multiple sebhorrheic keratosis lesions indicating underlying lesions, GI or lymphoid

148
Q

normal melanocyte number with dec melanin production due to inactivity of tyrosine

A

albinism

149
Q

What development failure can results in albinism

A

NC migration

150
Q

irregular areas of complete depigmentation - condition and cause

A

vitiligo, dec number in melanocytes

151
Q

hyperpigmentation associated with pregnancy or OCP

A

melasma (chloasma)

152
Q

Very superfiicial skin infection, honey colored crusting, very contagious - condition and organisms

A

impetigo, s aureus, s pyogenes

153
Q

acute painful spreading infxn of dermis and subQ tissues - condition and orgs

A

cellulitis - s aureus, s pyogenes

154
Q

deep tissue injury, crepitus from methane and CO2 production “flesh eating bacteria” - condition and orgs

A

necrotizing fasciitis, anaerobic bacteria or S. pyogenes

155
Q

exotoxin destroys keratinocyte attachments in the stratum granulosum, fever, generalized erythematous rash with sloughing of the upper layers of the dermis - newborns and children

A

Staph scalded skin syndrome

156
Q

white painless plaques on the tongue that cannot be scraped off - dz, population, implicated virus

A

hairy leukoplakia, HIV population, EBV mediated

157
Q

potentially fatal autoimmune disorder with IgG antibody against desmosomes

A

pemphigus vulgaris

158
Q

What does IM reveal in pemphigus vulgaris

A

antibodies around cells of the epidermis in a reticular or netlike pattern

159
Q

What does acantholysis show in pemphigus vulgaris

A

intraepidermal bullae involving the skin and oral mucosa

160
Q

What is a positive Nikolsky’s sign

A

in pemphis vulgaris, separation of epidermis upon manual stroking of skin

161
Q

Autoimmune disorder with IgG antibody against hemidesmosomes - dz, IM, other findings

A

bullous pemphigoid, linear immunofluorescence, eosinphils within blisters, similar to but less severed thatn pemphigus vulgaris- spares oral mucosa, negaitve nikolsky’s sign

162
Q

pruritic papules and vesicles, deposits of IgA a the tips of dermal papillae, associated with celiac

A

dermatitis herpetiformis

163
Q

Associated with M. pneumonia, HSV, sulfa drugs, B lactams, phenytoin, cancers and autoimmune dz - skin disorder and description

A

erythema multiforme, can be macules, papules vesicles, target lesions,

164
Q

fever, bulla formation and necrosis, sloughing of skin and high mortality - syndrome and associations

A

stevens johnson syndrome - associated with adverse drug reactions, more severe version called toxic epidermal necrolysis

165
Q

pruritic, purple, polygonal papules - sawtooth infiltrate of lymphocytes at dermal-epidermal jxn, associated with hep C

A

lichen planus

166
Q

premalignant lesions caused by sun exposure, small rough, erythematous or brownish papules - cutaenous horns - name and risk of carcinoma

A

actinic keratosis, risk proportional to epithelial dysplasia

167
Q

hyperplasia of stratum spinosum, associated with hyperinsulinemia (cushings, DM) and visceral malignancy

A

acanthosis nigcricans

168
Q

inflammatory lesions of subQ fat, usually on anterior shins, associated with coccidioidomycosis, histoplasmosis, TB, leprosy, streptoccocal infxn, sarcoid

A

erythema nodosum

169
Q

herald path followed by days later christmas tree distribution - multiple papular eruptions; remits spontaneously

A

pityriasis rosea

170
Q

first few weeks of life, grows rapidly and regresses spontaneously at 5 to 8 yrs of age

A

strawberry hemangioma

171
Q

appreas in 30s to 40s, does not regress

A

cherry hemangioma

172
Q

skin cancer associatd associated with excessive exposure to sunlight and arsenic

A

squamous cell carcinoma

173
Q

What is a precursor to squamous cell carcinoma

A

actinic keratosis

174
Q

where does squamous cell carcinoma of the skin typically appear, what is the histo, prognosis, and associations

A

hands and face, ulcerative red lesion, locally invasive bur rare metastasis, associated with chronic draining sinuses and keratin pearls

175
Q

What variant of squamous cells carcinoma of the skin grows rapidly and regresses spontaneously

A

keratoacanthoma

176
Q

locally invasive but rarely mets skin cancer, rolled edges, with central ulceration - cancer and gross path

A

basal cell carcinoma, pearly papules, commonly with telangiectasias

177
Q

What kind of nuclei do basal cell tumors have

A

palisading

178
Q

What is the tumor marker for melanoma, who is at risk, what correlates with risk of metastasis and what is the gross path

A

S100, associated with sunligh exposure, fair skinned at risk, depth of tumor correlates with risk of mets, dark with irregular borders

179
Q

What is the precursor to melanom

A

dysplastic nevus

Musculoskeletal and Connective Tissue (4 decks)

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