MSK, skin, connective Flashcards

1
Q

defect in achondroplasia

A
  • activating mutation of FGFR3
  • inhibits growth of cartilage
  • can’t do endochondral ossification
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2
Q

Oseogenesis inmperfecta

A
  • type 1 collagen
  • blue sclera (exposure of choroidal veins)
  • hearing loss (no collagen in ear bones)
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3
Q

osteopetrosis

A
  • defect in osteoclasts
  • thick and heavy bone with more fractures
  • BM problems (crowded out)
  • vision and hearing impairment (crancial nerve compression)
  • renal tubular acidosis (no carbonic anhydrase)
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4
Q

most common osteopetrosis defect

A

carbonic anhydrase II defect can’t make acidic environment

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5
Q

osteopetrosis treatment

A

BM transplant - normal monocytes

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6
Q

rickets/osteomalacia

A
  • defective mineralization of osteoid
  • vitamin D deficiency
  • rickets in kids (pigeon breast, frontal bossing, rachitic rosary and bowing)
  • osteomalacia have weak bone labs
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7
Q

labs in osteomalacia

A
  • low calcium, low phosphate, high PTH, high alk phos (to lay down bone)
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8
Q

osteoporosis

A
  • based on peak and rate of loss (based on diet, exercise and vit D receptor)
  • estrogen is protective
  • senile and postmenopausal
  • low bone density with normal labs
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9
Q

Paget disease of bone

A
  • imbalance of osteoclast/blast
  • possibly viral
  • not entire skeleton
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10
Q

stages of Paget

A
  1. osteoclastic
  2. mixed
  3. osteoblastic
  4. thick sclerotic bone with fractures
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11
Q

clinical in Paget

A
  • hat size
  • bone pain
  • lion faces
  • high alk phos (other labs normal)
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12
Q

Paget treatment

A

calcitonin and bisphosphonates

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13
Q

complications of Pagets

A

cardiac failure (shunts) and osteosarcoma (too much bone formation)

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14
Q

location of osteomyelitis

A

metaphysis in kids and epiphysis in adults

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15
Q

xray on osteomylitis

A

lytic focus surrounded by sclerosis

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16
Q

osteoma

A
  • benign tumor of bone
  • facial bones
  • with Gardner syndrome
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17
Q

Gardner syndrome

A
  • FAP
  • fibromatosis in retroperitoneum (local destruction)
  • and osteoma
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18
Q

osteoid osteoma

A
  • tumor of osteoblasts
  • rim of reactive bone
  • young adults in cortex of long bone (diaphysis)
  • resolves with aspirin
  • bony mass with radiolucent core
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19
Q

osteoblastoma (differences with osteoid osteoma)

A
  • larger
  • in vertebrae
  • does not respond to aspirin
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20
Q

osteochondroma

A
  • most common benign tumor
  • lateral projection of growth plate with cartilage cap
  • can transform to chondrosarcoma
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21
Q

osteosarcoma

A
  • proliferation of osteoblastic
  • bimodal peak
  • in metaphysis of long bones
  • long bone
  • Codman angle (dragged periosteum off bone)
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22
Q

risk for osteosarcoma

A
  • Rb family
  • Paget
  • radiation
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23
Q

giant cell tumor

A
  • in epiphysis of long bones (only one)
  • distal femur or tibia
  • soap bubble on sray
  • locally aggressive
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24
Q

ewing

A
  • malignant cells from neuroectoderm
  • diaphysis of long bones
  • onion skin from growing of medulla
  • small round blue cells (lymphocytes)
  • 11:22
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25
Q

chondroma

A
  • in medulla of small bones in hands and feet
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26
Q

where do cartilage tumors develop

A

medulla

  • benign in hands and feet
  • malignant in long bones
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27
Q

chondrosarcoma

A
  • in pelvis or central skeleton
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28
Q

exception of metastatic tumors in bone

A

prostatic carcinoma = osteoblastic lesion

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29
Q

degenerative joint disease

A

both DIP and PIP

  • worsens during day
  • disruption of cartilage
  • eburnation of bone
  • osteophytes in fingers
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30
Q

rheumatoid arthritis

A
  • HLA DR4
  • inflammation of synovium with pannus (granulation tissue)
  • morning stiffness, better with activity (less inflammation)
  • DIP joints are spared
  • IgM against Fc of IgG
  • neutrophils and high proteins
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31
Q

complications of RA

A
  • anemia of chronic disease

- secondary amyloidosis - SA-AA

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32
Q

spondyloarthropathies

A
  • HLAB27

- low back pain, uveitis and aortitis (aortic regurg)

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33
Q

Reiter syndrome

A

can’t see, can’t pee, can’t climb a tree (after chlymidia)

34
Q

psoriatic arhritis

A

DIP joints, sausage finger

35
Q

gout

A
  • MSU crystals due to hyperuricemia
  • purine breakdown products
  • caused by high cell turnover, Lesch-Nyhan syndrome (HGPRT), renal problems
36
Q

acute gout

A

activates neutrophils, alcohol and meat

37
Q

dermatomyositis

A
  • associated with carcinoma
  • proximal muscle weakness
  • rash in upper eyelids, malar rash, red papules on knees
  • creatinine kinase
  • anti Jo 1
  • inflammation at perimesium
38
Q

confused with lupus

A

dermatomyositis

39
Q

anti-Jo-1

A

dermatomyositis

40
Q

dermatomyositis vs poly

A

dermato = perimesium (close to skin)

poly - endomysium (farther from skin)

41
Q

polymyositis

A

no skin involvement

- endomysial inflammation from CD8 cells

42
Q

X linked MD

A
  • skeletal muscle by adipose tissue
  • delections of dystrophin, spontaneous (anchor molecule to ECM)
  • calf pseudohypertrophy
  • cardiac failure
43
Q

Becker MD

A
  • not as bad as X linked

- mutated, not deleted dystrophin

44
Q

associations with MG

A

thymic hyperplasia and thymoma

45
Q

associations with Lambert Eaton

A
  • proximal muscles
  • paraneoplastic with small cell carcinoma
  • improves with use
46
Q

liposarcoma

A
  • malignant

- lipoblast

47
Q

rhabdomyoma

A
  • cardiac is associated with tuberous sclerosis
48
Q

rhabdomyosarcoma

A
  • malignant in children
  • desmin positive
  • vagina in young girl (grape like mass)
49
Q

atopic dermatitis

A
  • oozing rash with vesicles and edema
  • face and flexor surfaces
  • type I, other allergic problems
50
Q

contact dermatitis

A

type 4 hypersensitivity

51
Q

acne

A
  • chronic inflammation of hair shaft and sebaceous glands
  • hormones in puberty (excess keratin)
  • P acnes infection
  • treat with isotretinoin (reduces keratin production)
52
Q

psoriasis

A
  • extensor surfaces
  • nail pitting
  • silvery scale with salmon color
  • excessive keratinocyte proliferation
  • HLA-C
53
Q

histology of psoriasis

A
  • thickened epidermis (acanthosis)
  • parakeratosis with nuclei
  • long dermal papillae
  • point bleeding (Ospit sign)
54
Q

psoriasis treatment

A
  • UV light, corticosteroids and immune modulation
55
Q

lichen plaus

A
  • pruritic, planar, polygonal, purple papules
  • Wickham striae
  • wrists elbows and oral mucosa
  • inflammation at dermal-epidermal junction (saw tooth)
  • hepatitis C
56
Q

pemphigus vulgaris

A
  • IgG antibody against desmosomes (desmoglein)
  • thin blisters
  • basal cells are intact
  • tombstone appearance
  • acantholysis
  • fish net around keratinocytes
  • skin and oral mucosa
57
Q

bullous pemphigoid

A
  • destruction of hemidesmosomes (IgG)
  • thick blisters
  • oral mucosa is spared
58
Q

dermatitis herpetaformis

A
  • immune deposition of IgA at dermal papillae
  • pruritic vesicles that are grouped
  • celiac disease
59
Q

erythema multiforme

A
  • HSR
  • HSV infection
  • target rash and bullae
60
Q

erythema multiforme with oral mucosa

A

TEN can progress to SJS

61
Q

seborrheic keratosis

A
  • benign squamous proliferation

- stuck on appearance with pseudocysts

62
Q

Leser-Trelat sign

A
  • many seborrheic keratosis

- GI tract carcinoma

63
Q

acanthosis nigricans

A
  • darkening of skin in groin or axilla

- insulin resistance of malignancy

64
Q

basal cell carcinoma

A
  • UVB sunlight (albinism and xeroderma pigmentosum)
  • central area of ulcerations
  • upper lip
  • peripheral palisading
65
Q

lips and kin cancer

A
  • basal is upper, squamous is lower
66
Q

SSC

A
  • exposure to sunlight
  • immunosuppression, arsenic and chronic inflammation
  • lower lip
67
Q

actinic keratosis

A

precursor to SCC

68
Q

keratoacanthoma

A
  • well differentiated SCC
  • keratin debris and cup like lesion
  • comes on fast and regresses
69
Q

vitiligo

A
  • autoimmune destruction of melanocytes
  • localized
  • tanning in light skin
70
Q

albinism

A

enzyme defect of tyrosinase

  • only eyes or both
  • increased risk for skin cancer
71
Q

freckle

A

increased number of melanosomes

72
Q

congenital nevus

A
  • has hair, not neoplastic
73
Q

types of nevi

A
  • junctional (along dermal-epidermal junction, kids)
  • compound (into dermis)
  • intra dermal (only in dermis, adults)
74
Q

dyplastic nevus syndrome

A
  • many nevi

- autosomal dominant

75
Q

growth phases of melanoma

A
  • radial growth followed by vertical growth

- increased risk with depth of invasion

76
Q

types of melanona

A
  • lentigo maligna (only along junction)
  • superficial spreading, most common (radial growth)
  • nodular (early vertical phase with bump)
  • acral lentiginous (palms and soles in black skin)
77
Q

impetigo

A
  • erythematous macules with pustules

- erosion with honey crusted

78
Q

celluitis

A

in dermis
- surgery or trauma
- necrotizing faciitis
-

79
Q

staph scalded skin syndrome

A
  • sloughing of skin
  • exfoliative toxin from staph
  • separates stratum granulosum
80
Q

SSSS vs TEN/SJS

A
SSSS = separates stratum granulosum
TEN/SJS = separates dermal epidermal junction
81
Q

molluscum contagiosum

A

pox virus

- molluscum bodies with viral inclusions