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
chondroma
- in medulla of small bones in hands and feet
26
where do cartilage tumors develop
medulla - benign in hands and feet - malignant in long bones
27
chondrosarcoma
- in pelvis or central skeleton
28
exception of metastatic tumors in bone
prostatic carcinoma = osteoblastic lesion
29
degenerative joint disease
both DIP and PIP - worsens during day - disruption of cartilage - eburnation of bone - osteophytes in fingers
30
rheumatoid arthritis
- 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
31
complications of RA
- anemia of chronic disease | - secondary amyloidosis - SA-AA
32
spondyloarthropathies
- HLAB27 | - low back pain, uveitis and aortitis (aortic regurg)
33
Reiter syndrome
can't see, can't pee, can't climb a tree (after chlymidia)
34
psoriatic arhritis
DIP joints, sausage finger
35
gout
- MSU crystals due to hyperuricemia - purine breakdown products - caused by high cell turnover, Lesch-Nyhan syndrome (HGPRT), renal problems
36
acute gout
activates neutrophils, alcohol and meat
37
dermatomyositis
- 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
confused with lupus
dermatomyositis
39
anti-Jo-1
dermatomyositis
40
dermatomyositis vs poly
dermato = perimesium (close to skin) | poly - endomysium (farther from skin)
41
polymyositis
no skin involvement | - endomysial inflammation from CD8 cells
42
X linked MD
- skeletal muscle by adipose tissue - delections of dystrophin, spontaneous (anchor molecule to ECM) - calf pseudohypertrophy - cardiac failure
43
Becker MD
- not as bad as X linked | - mutated, not deleted dystrophin
44
associations with MG
thymic hyperplasia and thymoma
45
associations with Lambert Eaton
- proximal muscles - paraneoplastic with small cell carcinoma - improves with use
46
liposarcoma
- malignant | - lipoblast
47
rhabdomyoma
- cardiac is associated with tuberous sclerosis
48
rhabdomyosarcoma
- malignant in children - desmin positive - vagina in young girl (grape like mass)
49
atopic dermatitis
- oozing rash with vesicles and edema - face and flexor surfaces - type I, other allergic problems
50
contact dermatitis
type 4 hypersensitivity
51
acne
- chronic inflammation of hair shaft and sebaceous glands - hormones in puberty (excess keratin) - P acnes infection - treat with isotretinoin (reduces keratin production)
52
psoriasis
- extensor surfaces - nail pitting - silvery scale with salmon color - excessive keratinocyte proliferation - HLA-C
53
histology of psoriasis
- thickened epidermis (acanthosis) - parakeratosis with nuclei - long dermal papillae - point bleeding (Ospit sign)
54
psoriasis treatment
- UV light, corticosteroids and immune modulation
55
lichen plaus
- pruritic, planar, polygonal, purple papules - Wickham striae - wrists elbows and oral mucosa - inflammation at dermal-epidermal junction (saw tooth) - hepatitis C
56
pemphigus vulgaris
- IgG antibody against desmosomes (desmoglein) - thin blisters - basal cells are intact - tombstone appearance - acantholysis - fish net around keratinocytes - skin and oral mucosa
57
bullous pemphigoid
- destruction of hemidesmosomes (IgG) - thick blisters - oral mucosa is spared
58
dermatitis herpetaformis
- immune deposition of IgA at dermal papillae - pruritic vesicles that are grouped - celiac disease
59
erythema multiforme
- HSR - HSV infection - target rash and bullae
60
erythema multiforme with oral mucosa
TEN can progress to SJS
61
seborrheic keratosis
- benign squamous proliferation | - stuck on appearance with pseudocysts
62
Leser-Trelat sign
- many seborrheic keratosis | - GI tract carcinoma
63
acanthosis nigricans
- darkening of skin in groin or axilla | - insulin resistance of malignancy
64
basal cell carcinoma
- UVB sunlight (albinism and xeroderma pigmentosum) - central area of ulcerations - upper lip - peripheral palisading
65
lips and kin cancer
- basal is upper, squamous is lower
66
SSC
- exposure to sunlight - immunosuppression, arsenic and chronic inflammation - lower lip
67
actinic keratosis
precursor to SCC
68
keratoacanthoma
- well differentiated SCC - keratin debris and cup like lesion - comes on fast and regresses
69
vitiligo
- autoimmune destruction of melanocytes - localized - tanning in light skin
70
albinism
enzyme defect of tyrosinase - only eyes or both - increased risk for skin cancer
71
freckle
increased number of melanosomes
72
congenital nevus
- has hair, not neoplastic
73
types of nevi
- junctional (along dermal-epidermal junction, kids) - compound (into dermis) - intra dermal (only in dermis, adults)
74
dyplastic nevus syndrome
- many nevi | - autosomal dominant
75
growth phases of melanoma
- radial growth followed by vertical growth | - increased risk with depth of invasion
76
types of melanona
- 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
impetigo
- erythematous macules with pustules | - erosion with honey crusted
78
celluitis
in dermis - surgery or trauma - necrotizing faciitis -
79
staph scalded skin syndrome
- sloughing of skin - exfoliative toxin from staph - separates stratum granulosum
80
SSSS vs TEN/SJS
``` SSSS = separates stratum granulosum TEN/SJS = separates dermal epidermal junction ```
81
molluscum contagiosum
pox virus | - molluscum bodies with viral inclusions