Classic presentations Flashcards

1
Q

abdominal pain
ascites
HSM

A

budd-chiari syndrome (posthepatic venous thrombosis)

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2
Q

achilles tendon xanthoma

A

familial hypercholesterolemia

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3
Q

adrenal hemorrhage
DIC
hypotension

A

waterhouse-friderichsen syndrome (meningococcemia)

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4
Q

anterior drawer sign

A

ACL injury

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5
Q

arachnodactyly
lens dislocation
aortic dissection
hyperflexible joints

A

marfan syndrome (fibrillin defect)

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6
Q

athlete with polycythemia

A

epo injections

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7
Q

back pain
fever
night sweats
wt loss

A

pott disease (vertebral TB)

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8
Q

bilateral hilar adenopathy

uveitis

A

sarcoidosis (noncaseating granulomas)

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9
Q

blue sclera

A

OI (type I collagen defect)

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10
Q

bluish line on gingiva

A

burton line (lead poisoning)

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11
Q

bone pain
bone enlargement
arthritis

A

paget disease of bone (increased osteoblast, osteoclast activity)

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12
Q

bounding pulses
diastolic murmur
head bobbing

A

aortic regurgitation

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13
Q

butterfly facial rash
raynaud phenomenon
young female

A

SLE

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14
Q
cafe-au-lait spots
lisch nodules (iris hamartoma)
A

NF1 (+ pheo, optic glioma)

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15
Q

cafe-au-lait spots
polyostotic fibrous dysplasia
precocious puberty
multiple endocrine shits

A

mccune-albright syndrome (mosaic G-protein signaling mutation)

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16
Q

calf pseudohypertrophy

A

muscular dystrophy (MC duchenne) - XLR dystrophin del

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17
Q

cherry red spots on macula

A
tay sachs (ganglioside accumulation, - HSM) or
niemann pick (sphingomyelin accumulation, +HSM), central retinal occlusion
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18
Q

CP
pericardial effusion/friction rub
persistent fever s/p MI

A

dressler syndrome - fibrinous pericarditis, 1-12 weeks after MI

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19
Q

chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

mcardle disease (muscle glycogen phosphorylase deficiency)

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20
Q

cold intolerance

A

hypothyroidism

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21
Q

conjugate lateral gaze palsy, horizontal diplopia

A

INO (damage to MLF, bilateral w/MS, unilateral w/stroke)

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22
Q

continuous machine-like murmur

A

PDA (close with indomethacin, maintain with misoprostol)

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23
Q

cutaneous/dermal edema 2/2 connective tissue deposition

A

myxedema (hypothyroidism, graves disease - pretibial)

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24
Q

dark purple skin/mouth nodules in pt with AIDS

A

kaposi sarcoma (HHV-8)

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25
Q

deep, labored breathing/hyperventilation

A

DKA

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26
Q

dermatitis
dementia
diarrhea

A

pellagra (niacin AKA vit B3 deficiency)

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27
Q

dilated cardiomyopathy
edema
alcoholism/malnutrition

A

wet beriberi (thiamine AKA B1 deficiency)

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28
Q

dog/cat bite resulting in infxn

cats = the worst

A

pasteurella multocida (cellulitis at inoculation site)

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29
Q

dry eyes
dry mouth
arthritis

A

sjogren syndrome (AI destruction of exocrine glands)

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30
Q

dysphagia (esophageal webs)
glossitis
Fe deficiency anemia

A

plummer-vinson syndrome (may progress to esophageal squamous cell carcinoma)

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31
Q

elastic skin

hypermobility of joints

A

ehrlos danlos syndrome (type III collagen defect)

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32
Q

enlarged, hard left supraclavicular node

A

virchow node (abdominal metastasis)

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33
Q

erythroderma
lymphadenopathy
HSM
atypical T cells

A
mycosis fungoides (cutaneous T cell lymphoma) or
sezary syndrome (mycosis fungoides + malignant T cells in blood)
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34
Q

facial muscle spasm after tapping

A

chvostek sign (hypocalcemia)

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35
Q
fever
chills
HA
myalgia
recent abx tx for syphilis
A

jarisch-herxheimer rxn (rapid lysis of spirochetes results in toxin release)

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36
Q

fibrous plaques in soft tissue of penis

A

peyronie disease (connective tissue disorder)

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37
Q

gout
intellectual disability
self-mutilation
boy

A

lesch-nyan syndrome (HGPRT deficiency, XLR)

38
Q

green-yellow rings around cornea

A

kayser-fleischer rings (copper accumulation, wilson disease)

39
Q

hamarthromatous GI polyps, hyperpigmentation of mouth/hands/feet

A

peutz-jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increased cancer risk, mainly GI)

40
Q

HSM
osteoporosis
neuro sxs

A

gaucher disease (glucocerebrosidase deficiency)

41
Q

hereditary nephritis
sensorineural hearing loss
cataracts

A

alport syndrome (collagen IV)

42
Q

hyperphagia
hypersexuality
hyperorality
hyperdocility

A

kluver-bucy syndrome (bilateral amygdala lesion, assoc w/HSV1)

43
Q

infant w/cleft palate, microcephaly/holoprosencephaly, polydactyly, cutis aplasia

A

patau syndrome (trisomy 13)

44
Q

infant w/FTT, HSM, neurodegeneration

A

niemann-pick (sphingomyelinase deficiency)

45
Q

infant w/hypoglycemia
FTT
hepatomegaly

A
cori disease (debranching enzyme deficiency) or
von gierke disease (g-6-phosphatase deficiency, more severe)
46
Q

infant w/microcephaly
rocker bottom feet
clenched hands
structural heart defect

A

edwards syndrome (trisomy 18)

47
Q

jaundice

palpable distended non-tender gallbladder

A

courvoisier sign (distal obstruction of biliary tree, probably not good)

48
Q

male child
recurrent infxns
no mature B cells

A

bruton disease (X linked agammaglobulinemia)

49
Q

mucosal bleeding and prolonged bleeding time

A

glanzmann’s thrombasthenia (defect in platelet aggregation due to GpIIb/IIIa deficiency)

50
Q

muffled heart sounds
distended neck veins
hypotension

A

beck triad - cardiac tamponade

51
Q

multiple colon polyps, osteoma/soft-tissue tumors, impacted/supernumerary teeth

A

gardner syndrome (subtype of FAP)

52
Q

myopathy (infantile hypertrophic cardiomyopathy), excercise intolerance

A

pompe disease (lysosomal alpha-1,4-glucosidase deficiency)

53
Q

neonate with arm paralysis following difficult birth

A

erb-duchenne palsy (superior trunk C5-C6 brachial plexus injury - “waiter’s tip”)

54
Q

no lactation postpartum
absent menstruation
cold intolerance

A

sheehan syndrome

55
Q

oscillating fast/slow breathing

A

cheyne-stokes respirations (central apnea in CHF or ICP)

56
Q

painful blue fingers/toes

hemolytic anemia

A

cold agglutinin disease (AIHA c/b mycoplasma pneumoniae, infectious mononucleosis)

57
Q

painful, pale, cold fingers/toes

A

raynaud (vasospasm in extremities)

58
Q

painful, raised red lesions on pad of fingers/toes

A

osler nodes (infective endocarditis, immune complex deposition)

59
Q

painless erythematous lesions on palms, soles

A

janeway lesions (infective endocarditis, septic emboli/microabscesses)

60
Q

painless jaundice

A

cancer of pancreatic head obstructing bile duct

61
Q

palpable purpura on buttocks/legs, joint pain, abd pain (child), hematuria

A

henoch-schonlein purpura (IgA vasculitis affecting skin and kidneys)

62
Q

tumors of…
pancreas
pituitary
parathyroid

A

MEN1 (AD)

63
Q

periorbital and/or peripheral edema
proteinuria
hypoalbuminemia
hypercholesterolemia

A

nephrotic syndrome

64
Q
polyuria
RTA type II
growth failure
electrolyte imbalances
hypophosphatemic rickets
A

fanconi syndrome (proximal tubular reabsorption defect)

65
Q

pruritic, purple, polygonal planar papules and plaques

A

Lichen planus (6 Ps)

66
Q

rash on palms and soles

A

coxsackie A
secondary syphilis
RMSF

67
Q

recurrent colds
unusual eczema
high serum IgE

A

Job syndrome (hyper IgE, neutrophil chemotaxis abnormality)

68
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults)

intussusception (infants)

69
Q

red, itchy, swollen rash of nipple/areola

A

paget disease of the breast (suggests underlying neoplasm)

70
Q

red urine in morning

fragile RBCs

A

PNH

71
Q

renal cell carcinoma (bilateral)
hemangioblastomas
angiomatosis
pheo

A

von hippel-lindau disease (dominant tumor suppressor gene mutation)

72
Q

retinal hemorrhage with pale centers

A

roth spots (bacterial endocarditis)

73
Q

severe jaundice in neonate

A

crigler-najjar syndrome (congenital unconjugated hyperbili)

74
Q

short stature
increase incidence of tumors/leukemia
aplastic anemia

A

fanconi anemia (genetic loss of DNA crosslink repair, often progresses to AML)

75
Q

single palmar crease

A

down syndrome

76
Q

situs inversus
chronic sinusitis
bronchiectasis
infertility

A

kartagener syndrome (dynein arm defect affecting cilia)

77
Q

skin hyperpigmentation
hypotention
fatigue

A

addison disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)

78
Q

slow, progressive muscle weakness in boys

A

becker muscular dystrophy (x-linked missense mutation in dystrophin, less severe than duchenne)

79
Q

small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

koplik spots (measles - rubeola virus)

80
Q

smooth, flat, moist, painless white lesions on genitals

A

condylomata lata (Secondary syphilis)

81
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

82
Q

strawberry tongue

A

scarlet fever
kawasaki disease
toxic shock syndrome

83
Q
streak ovaries
congenital heart disease
horseshoe kidney
cystic hygroma at birth
short stature
webbed neck
lymphedema
A

turner syndrome (45, XO)

84
Q

sudden swollen painful big toe joint, tophi

A

gout/podagra (hyperuricemia)

85
Q

swollen gums
mucosal bleeding
poor wound healing
petechiae

A

scurvy (vit C deficiency)

cant hydroxylate proline/lysine for collagen synthesis

86
Q

swollen, hard, painful, finger joints

A

osteoarthritis (osteophytes on PIP bouchard nodes; DIP heberden nodes)

87
Q

tumors of…
thyroid
parathyroid
pheo

A

MEN2A (AD ret mutation)

88
Q

thyroid tumors
pheo
ganglioneuromatosis

A

MEN2B (AD ret mutation)

89
Q

vascular birthmark (port-wine stain)

A

hemangioma (benign, but associated with sturge-weber syndrome)

90
Q
wt loss
diarrhea
arthritis
fever
adenopathy
A

whipple disease (tropheryma whipplei)