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0
Q

Achilles’ tendon xanthoma

A

Familial hypercholesterolemia

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1
Q

Abdominal pain
Ascites
Hepatomegaly

A

Budd-Chiari Syndrome (posthepatic venous thrombosis)

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2
Q

Adrenal hemorrhage
HypoTN
DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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3
Q

Anterior drawer sign +

A

Anterior cruciate ligament injury

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4
Q

Arachnodactyly
Lens dislocation
Aortic dissection
Hyper flexible joints

A

Marian syndrome (fibrillin defect)

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5
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

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6
Q

Back pain
Fever
Night sweats
Weight loss

A

Pott’s disease (vertebral TB)

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7
Q

Bilateral hilar adenopathy

Uveitis

A

Sarcoidosis (noncaseating granulomas)

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8
Q

Blue sclera

A

OI (type 1 collagen defect)

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9
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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10
Q

Bone pain
Bone enlargement
Arthritis

A

Page disease of bone (inc osteoblastic and clastic activity)

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11
Q

Bounding pulses
Diastolic heart murmur
Head bobbing

A

Aortic regurgitation

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12
Q

Butterfly facial rash

Raynaud phenom in a young woman

A

SLE

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13
Q 
Cafe-au-lait spots
Lisch nodules (iris hamartoma)
A

Neurofibromatosis type 1 (+ pheochromocytoma, optic gliomas)

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14
Q

Calf pseudohypertrophy

A

Duchenne muscular dystrophy (dystrophin gene)

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15
Q

Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities

A

McCune-Albright syndrome

Mosaic G-protein signaling mutation

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16
Q

Cherry-red spots on a macula

A

Tay-Sachs (ganglioside accumulation) OR

Niemann-Pick (sphingomyelin accumulation), Central artery occlusion

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17
Q

Chest pain on exertion

A

Angina
Stable = moderate exertion
Unstable = minimal exertion

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18
Q

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

A

Dresser syndrome
(Autoimmune-med post-MI fibrinous pericarditis)
1-12wks after acute episode

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19
Q

Child uses arms to stand up from squat

A

Gowers sign (Duchenne muscular dystrophy)

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20
Q

Child with fever later develops red rash on face that spreads to body
Slapped cheeks

A

Erythema infectiousum/fifth disease: parvovirus B19

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21
Q

Chorea
Dementia
Caudatep degeneration

A 
Huntington disease 
(Autoimmune dom CAG repeat expansion)
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22
Q

Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria

A 
McArdle disease
(Muscle glycogen phosphorylase deficiency)
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23
Q

Cold intolerance

Myxedema

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy

Horizontal diplopia

A

Internuclear ophthalmoplegia
(Damage to MLF)
Bilateral = MS
Unilateral = stroke

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25
Q

Continuous machine-like heart murmur

A

PDA
Close = indomethacin
Open = misoprostol

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26
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema

(Hypothyroidism / Graves’ disease [pretibial]

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27
Q

Dark purple skin

Mouth nodules in a patient with AIDS

A

Kaposi sarcoma –> HHV8

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28
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations –> diabetic ketoacidosis

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29
Q

Dermatitis
Dementia
Diarrhea

A

Pellagra –> niacin B3 def

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30
Q

Dilated cardiomyopathy
Edema
Alcoholism or malnutrition

A

Wet beriberi –> thiamine B1 def

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31
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida –> cellulitis at inoculation site

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32
Q

Dry eyes
Dry mouth
Arthritis

A 
Sjogren syndrome 
(Autoimmune destruction do exocrine glands)
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33
Q 
Esophageal webs (dysphagia)
Glossitis
Iron def anemia
A

Plummer-Vinson syndrome

May progress to esophageal SCC

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34
Q

elastic skin

hypermobility of joints

A

Ehlers-Danlos Syndrome

Type III collagen defect

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35
Q

enlarged, hard left supraclavicular node

A 
Virchow node
(abdominal metast)
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36
Q

erythroderma
lymphadenopathy
hepatosplenomegaly
atypical T cells

A
  1. mycosis fungoides (cutaneous Tcell lymphoma)

2. Sezary syndrome (mycosis fungoides + malignant Tcells in blood)

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37
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypoCa++)

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38
Q

Fat
Female
Forty
Fertile

A

Cholelithiasis

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39
Q

Fever
Chills
headache
myalgia following antibiotic Tx for syphilis

A

Jarisch-Herxheimer reaction

rapid lysis of spirochetes results in toxin release

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40
Q 
fever
cough
conjunctivitis
coryza
diffuse rash
A

measles

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41
Q

fever
night sweats
weight loss

A

B symptoms (staging) of lymphoma

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42
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connective tissue disorder)

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43
Q

Gout
intellectual disability
self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome

HGPRT def; X-linked recessive

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44
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (Copper accumulation from Wilson disease)

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45
Q

Hamartomatous GI polyps

hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers syndrome

(inherited, benign polyposis can cause bowel obstruction) inc risk of GI cancer

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46
Q

Hepatosplenomegaly
osteoperosis
neurologic Sx

A

gaucher disease (glucocerebrosidase def)

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47
Q

hereditary nephritis
sensorineural hearing loss
cataracts

A

Alport syndrome (mutation in collage IV)

48
Q

Hyperphagia
hypersexuality
hyperorality
hyperdocility

A

Kluver-Bucy syndrome

bilateral amygdala lesion

49
Q

hyperreflexia
hypertonia
Babinski sign present

A

UMN damage

50
Q

Hyporeflexia
hypotonia
atrophy
fasciculation

A

LMN damage

51
Q

Hypoxemia
polycythemia
hypercapnia

A

chronic bronchitis: hyperplasia of mucous cells (Blue bloater)

52
Q

indurated, ulcerated genital lesion

A

nonpainful: Chancre–> primary syphilis (T.pallidum)

painful w/ exudate: chancroid (H. ducreyi)

53
Q

infant with cleft palate/lip
microcephaly or
holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (Trisomy 13)

55
Q

infant with failure to thrive
hepatosplenomegaly
neurodegeneration
cherry red spot on macula

A

Neimann-Pick disease

genetic sphingomyelinase def

56
Q

infant with hypoglycemia
failure to thrive
hepatomegaly

A 
Cori disease (debranching enzyme def)
Von Gierke disease (glc-6-phosphatase def --> more severe)
57
Q

infant with microcephaly
rocker-bottom feet
clenched hands
structural heart defect

A

Edwards Syndrome

Trisomy 18

58
Q

jaundice

palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

59
Q

large rash with bull’s eye appearance

A

erythema chronicum migrans from Ixodes tick bite –> Lyme disease

60
Q

lucid interval after traumatic brain injury

A

epidural hematoma –> middle meningeal artery rupture

61
Q

male child
recurrent infections
no mature B cells

A

Bruton’s disease

X-linked agammaglobulinemia

62
Q

mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia

platelet aggregation defect due to lack of GpIIb/IIIa

63
Q

muffled heart sounds
distended neck veins
hypotension

A

Beck triad of cardiac tamponade

64
Q

multiple colon polyps
osteomas/soft tissue tumors
impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

65
Q

myopathy (infantile hypertrophic cardiomyopathy)

exercise intolerance

A 
Pompe disease
(lysosomal alpha1,4-glucosidase def)
66
Q

neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy

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

67
Q

no lactation postpartum
absent menstruation
cold intolerance

A

Sheehan syndrome (pituitary infarct)

68
Q

nystagmus
intention tremor
scanning speech
bilateral internuclear ophthalmoplegia

69
Q

oscillating show/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or inc in intracranial pressure)

70
Q

painful blue fingers/toes

hemolytic anemia

A

cold agglutinin disease

autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis

71
Q

painful, pale, cold fingers/toes

A

Raynaud phenom (vasospasm in extremities)

72
Q

painful, raised red lesions on pad of toes/fingers

A

Osler nodes (infective endocarditis, immune complex deposition)

73
Q

painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

74
Q

painless jaundice

A

cancer of the pancreatic head obstructing bile duct

75
Q

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

A

Henoch-Schonlein purpura

IgA vasculitis affecting skin and kidneys

76
Q

pancreatic, pituitary, and parathyroid tumors

A

MEN 1 (AD)

77
Q

periorbital and/or peripheral edema
proteinuria
hypoalbuminemia
hypercholesterolemia

A

nephrotic syndrome

78
Q

pink complexion
dyspnea
hyperventilation

A

“pink puffer” –> emphysema
centriacinar = smoking
panacinar = alpha-antitrypsin def

79
Q 
polyuria
renal tubular acidosis type II
growth failure
electrolyte imbalances
hypophosphatemic rickets
A

Fanconi syndrome (proximal tubular reabsorption defect)

80
Q

pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

81
Q

ptosis
miosis
anhidrosis

A

Horner syndrome (SNS chain lesion)

82
Q

pupil accommodates but doesn’t react

A

Argyll-Robertson pupil (neurosyphilis)

83
Q

rapidly progressive leg weakness that ascends following GI/URTI

A

Guillian-Barre syndrome (actue autoimmune inflammatory demyelinating polyneuropathy)

84
Q

rash on palms and soles

A

Coxsackie A
secondary syphilis
Rocky Mountain Spotted Fever

85
Q

recurrent colds
unusual eczema
high serum IgE

A

Hyper-IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)

86
Q

red “currant jelly” sputum in alcoholic or diabetic pt

A

Klebsiella pneumoniae

87
Q

red “currant jelly” stools

A

acute mesenteric ischemia (adults)

intussesception (infants)

88
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

89
Q

red urine in the morning

fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

90
Q

bilateral renal cell Ca
hemangioblastoma
angiomatosis
pheochromocytoma

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

91
Q

restin tremor
rigidity
akinesia
postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

92
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

93
Q

severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

94
Q

severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

95
Q

severe RLQ pain with rebound tenderness

A

McBurney sign (acute appendicitis)

96
Q

short stature
inc incidence of tumors/leukemia
aplastic anemia

A

Fanconi anemia (genetic loss of DNA cross-link repair; often progresses to AML)

97
Q

single palmar crease

A

Down syndrome

98
Q

situs inversus
chronic sinusitis
bronchiectasis
infertility

A

Kartagener syndrome (dyne in arm defect affecting cilia)

99
Q

skin hyper pigmentation
hypoTN
fatigue

A

Addison disease (primary adrenocortical insufficiency –> inc ACTH and inc alpha-MSH)

100
Q

slow, progression muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

101
Q

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

A

Koplik spots (measles; rubeola virus)

102
Q

smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (secondary syphilis)

103
Q

splinter hemorrhages in fingernails

A

bacterial endocarditis

104
Q

strawberry tongue

A

Scarlet fever
Kawasaki disease
toxic shock syndrome

105
Q

streak ovaries

preductal coarctation of aorta or bicuspid aortic valve

A

Turner syndrome

106
Q

sudden swollen/painful big toe joint

tophi

A

Gout/podagra (hyperuricemia)

107
Q

swollen gums
mucosal bleeding
poor wound healing
petechiae

A

scurvy (Vit C def)

108
Q

swollen, hard, painful finger joints

A

osteoarthritis (osteophytes in PIP [Bouchard], DIP [Heberden])

109
Q

systolic ejection murmur (crescendo-decrescendo)

A

aortic valve stenosis

110
Q

thyroid and parathyroid tumors

pheochromocytoma

A

MEN 2A (AD ret mutation)

111
Q

thyroid tumors
pheocromocytoma
ganglioneuromatosis

A

MEN 2B (AD ret mutation)

112
Q

toe extension/fanning upon plantar scrape

A

Babinksi sign (UMN lesion)

113
Q

unliateral facial drooping involving forehead

A

facial nerve (LMN CN VII palsy)

114
Q

urethritis
conjunctivitis
arthritis in male

A

Reactive arthritis assoc with HLA-B27

115
Q

vascular birthmark (port wine stain)

A

hemangioma (benign but assoc with Sturge-Weber syndrome)

116
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic pt)

117
Q 
weight loss
diarrhea
arthritis
fever
adenopathy
A

Whipple disease (Tropheryma whipplei)

118
Q

“worst headache of my life”

A

subarachnoid hemorrhage

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