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USMLE Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

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USMLE® Step 1 flashcards
0
Q

Familial hypercholesterolemia

A

Achilles’ tendon xanthoma (⬇️ LDL receptor signaling)

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1
Q

Budd-Chiari syndrome

A

Abdominal pain, ascites, hepatomegaly (posthepatic venous thrombosis)

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2
Q

Waterhouse-Friderichsen syndrome

A

Adrenal hemorrhage, hypotension, DIC (meningococcemia)

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3
Q

Marfan’s syndrome

A

Archnodactyly, lens dislocation, aortic dissection, hyperflexible joints (fibrillin defect)

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4
Q

Secondary to erythropoietin injection

A

Athlete with polycythemia

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5
Q

Pott’s disease

A

Back pain, fever, night sweats, weight loss (vertebral tuberculosis)

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6
Q

Sarcoidosis

A

Bilateral hilar adenopathy, uveitis (noncaseating granulomas)

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7
Q

Osteogenesis imperfecta

A

Blue sclera (type I collagen defect)

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8
Q

Burton’s line

A

Bluish line on gingiva (lead poisoning)

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9
Q

Paget’s disease of bone

A

Bone pain, bone enlargement, arthritis (⬆️ osteoblastic and osteoclastic activity)

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10
Q

Aortic regurgitation

A

Bounding pulses, diastolic heart murmur, head bobbing

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11
Q

Systemic lupus erythematosus

A

“Butterfly” facial rash and Raynaud’s phenomenon in a young female

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12
Q

Neurofibromatosis type I

A

Café-au-lait spots, Lisch nodules (iris hamartoma) [+pheocromocytoma, optic glioma]

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13
Q

McCune Albright syndrome

A

Café-au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities (mosaic G-protein signaling mutation)

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14
Q

Muscular dystrophy

A

Calf pseudohypertrophy (most commonly Duchenne’s; X-linked recessive deletion of dystrophin gene)

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15
Q

Tay-Sachs or Niemann-Pick, central retinal artery occlusion

A

“Cherry-red spot” on macula
Tay-Sachs ➡️ ganglioside accumulation
Niemann-Pick ➡️ sphingomyelin accumulation

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16
Q

Angina

A

Chest pain on exertion (stable: with moderate exertion; unstable: with minimal exertion)

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17
Q

Dressler’s syndrome

A

Chest pain, pericardial effusion/friction rub, persistent fever following MI (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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18
Q

Gowers’ sign

A

Child uses arms to stand up from squat (Duchenne’s muscular dystrophy)

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19
Q

“Slapped cheeks”

A

Child with fever later develops red rash on face that spreads to body (erythema infectiosum/fifth disease: parvovirus B19)

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20
Q

Huntington’s disease

A

Chorea, dementia, caudate degeneration (autosomal dominant CAG repeat expansion)

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21
Q

McArdle’s disease

A

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria (muscle glycogen phosphorylase deficiency)

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22
Q

Hypothyroidism

A

Cold intolerance

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23
Q

Internuclear ophthalmoplegia

A

Conjugate lateral gaze palsy, horizontal diplopia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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24
Q

PDA

A

Continuous “machinery” heart murmur (close with indomethacin; open or maintain with misoprostol)

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25
Q

Myxedema

A

Cutaneous/dermal edema due to connective tissue deposition (caused by hypothyroidism, Graves’ disease [pretibial])

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26
Q

Kaposi’s sarcoma

A

Dark purple skin/mouth nodules (usually AIDS patients [MSM]: associated with HHV-8)

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27
Q

Kussmaul breathing

A

Deep, labored breathing/hyperventilation (diabetic ketoacidosis)

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28
Q

Pellagra

A

Dermatitis, diarrhea, dementia (niacin [vitamin B3] deficiency)

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29
Q

Wet beriberi

A

Dilated cardiomyopathy, edema, alcoholism or malnutrition (thiamine [vitamin B1] deficiency)

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30
Q

Pasteurella multocida

A

Dog or cat bite resulting in infection (cellulitis at inoculation site)

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31
Q

Sjögren’s syndrome

A

Dry eyes, dry mouth, arthritis (autoimmune destruction of exocrine glands)

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32
Q

Plummer-Vinson syndrome

A

Dysphagia (esophageal webs), glossitis, iron deficiency anemia [may progress to esophageal squamous cell carcinoma]

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33
Q

Ehlers-Danlos syndrome

A

Elastic skin, hypermobility of joints (type III collagen defect)

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34
Q

Virchow’s node

A

Enlarged, hard left supraclavicular node (abdominal metastasis)

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35
Q

Sézary syndrome (cutaneous T cell lymphoma) or mycosis fungoides

A

Erythroderma, lymphadenopathy, hepatosplenomegly, atypical T cells

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36
Q

Chvostek’s sign

A

Facial muscle spasm upon tapping (hypocalcemia)

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37
Q

Cholelithiasis

A

Fat, female, forty, fertile (gallstones)

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38
Q

Jarisch-Herxheimer reaction

A

Fever, chills, headache, myalgia following antibiotic treatment for syphilis (rapid lysis of spirochetes results in toxin release)

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39
Q

Measles (Morbillivirus)

A

Fever, cough, conjunctivitis, coryza, diffuse rash

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40
Q

B symptoms (staging) of lymphoma

A

Fever, night sweats, weight loss

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41
Q

Peyronie’s disease

A

Fibrous plaques in soft tissue of penis (connective tissue disorder)

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42
Q

Lesch-Nyhan syndrome

A

Gout, mental retardation, self mutilating-behavior in a boy (HGPRT - hypoxanthine guanine phosphoribosyltransferase - deficiency, X-linked recessive)

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43
Q

Kayser-Fleischer rings

A

Green-yellow rings around peripheral cornea (copper accumulation from Wilson’s disease)

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44
Q

Peutz-Jeghers syndrome

A

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands (inherited, benign polyposis can cause bowel obstruction; ⬆️ cancer risk, mainly GI)

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45
Q

Gaucher’s disease

A

Hepatosplenomegly, osteoporosis, neurologic symptoms (glucocerebrosidase deficiency)

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46
Q

Alport syndrome

A

Hereditary nephritis, sensorineural hearing loss, cataracts (mutation in alpha chain of collagen type IV)

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47
Q

Klüver-Bucy syndrome

A

Hyperphagia, hypersexuality, hyperorality, hyperdocility (bilateral amygdala lesion)

48
Q

UMN lesion

A

Hyperreflexia, hypertonia, Babinski sign (+)

49
Q

LMN lesion

A

Hyporeflexia, hypotonia, atrophy, fasciculations

50
Q

“Blue boater”

A

Hypoxemia, polycythemia, hypercapnia (chronic bronchitis: hyperplasia of mucous cells)

51
Q

Chancre

A

Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

52
Q

Patau’s syndrome

A

Infant with clef lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia (trisomy 13)

53
Q

Niemann-Pick disease

A

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration (genetic sphingomyelinase deficiency)

54
Q

Cori’s disease

A

Infant with hypoglycemia, failure to thrive and hepatomegaly (debranching enzyme deficiency)

55
Q

Edward’s syndrome

A

Infant with microcephaly, rocker-bottom feet, clenched hands and structural heart defect (trisomy 18)

56
Q

Courvoisier’s sign

A

Jaundice and palpable, distended, non-tender gallbladder (distal obstruction of biliary tree)

57
Q

Erythema chronicum migrans

A

Large rash with bull’s-eye appearance (Lyme disease: Borrelia; from Ixodes tick bite)

58
Q

Epidural hematoma

A

Lucid interval after traumatic brain injury (middle meningeal artery)

59
Q

Bruton’s disease

A

Male child, recurrent infections, no mature B cells (X-linked agammaglobulinemia)

60
Q

Glanzmann’s thrombasthenia

A

Mucosal bleeding and prolonged bleeding time (defect in platelet aggregation due to lack of GpIIb/IIIa)

61
Q

Beck’s triad of cardiac tamponade

A

Muffled heart sounds, distended neck veins, hypotension

62
Q

Gardner’s syndrome

A

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth (subtype of FAP)

63
Q

Pompe’s disease

A

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance [lysosomal alpha-1,4-glucosidase deficiency]

64
Q

Erb-Duchenne palsy

A

Neonate with arm paralysis following difficult birth (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)

65
Q

Sheehan’s syndrome

A

No lactation postpartum, absent menstruation, cold intolerance (pituitary infarction)

66
Q

Multiple sclerosis

A

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

67
Q

Cheyne-Stokes respirations

A

Oscillating slow/fast breathing (central apnea in CHF or ⬆️ intracranial pressure)

68
Q

Cold agglutinin disease

A

Painful, blue fingers/toes, hemolytic anemia (autoimmune hemolytic anemia cause by Mycoplasma pneumoniae, infectious mononucleosis)

69
Q

Raynaud’s phenomenon

A

Painful, pale, cold fingers/toes (vasospasm in extremities)

70
Q

Osler’s node

A

Painful, raised red lesions on pad of fingers/toes (infective endocarditis, immune complex deposition)

71
Q

Janeway lesions

A

Painless erythematous lesions on palms and soles (infective endocarditis, septic emboli/microabscesses)

72
Q

Cancer of the pancreatic head obstructing bile duct

A

Painless jaundice

73
Q

Henoch-Schönlein purpura

A

Palpable purpura on the buttocks/legs, joint pain, abdominal pain (child), hematuria [IgA vasculitis affecting skin and kidneys)

74
Q

MEN 1

A

Pancreatic, pituitary, parathyroid tumors (autosomal dominant)

75
Q

Nephrotic syndrome

A

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

76
Q

“Pink puffer”

A

Pink complexion, dysnea, hyperventilation (emphysema: centriacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])

77
Q

Fanconi’s syndrome

A

Polyuria, renal tubular acidosis type IIA, growth failure, electrolyte imbalances, hypophosphatemic rickets (proximal tubular reabsorption defect)

78
Q

Anterior cruciate ligament injury

A

Positive anterior “drawer sign” [cajón (+)]

79
Q

Lichen planus

A

Pruritic, purple, polygonal planar papules and plaques (6 p’s)

80
Q

Horner’s syndrome

A

Ptosis, miosis, anhidrosis (sympathetic chain lesion)

81
Q

Argyll Robertson pupil

A

Pupil accommodates but doesn’t react (neurosyphilis)

82
Q

Guillain-Barré syndrome

A

Rapidly progressive leg weakness that ascends following GI/upper respiratory tract infection (acute autoimmune inflammatory demyelinating polyneuropathy)

83
Q

Rash on palms and soles

A

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

84
Q

Hyper-IgE syndrome

A

Recurrent colds, unusual eczyma, high serum IgE (Job’s syndrome: neutrophil chemotaxis abnormality)

85
Q

Klebsiella pneumoniae

A

Red “currant jelly” sputum in alcoholic or diabetic patients

86
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults), intussusception (infants)

87
Q

Paget’s disease of the breast

A

Red, itchy, swollen rash of nipple/areola (represents underlying neoplasm)

88
Q

Paroxysmal nocturnal hemoglobinuria

A

Red urine in the morning, fragile RBC’s

89
Q

von Hippel-Lindau disease

A

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheocromocytoma (dominant tumor suppressor gene mutation)

90
Q

Parkinson’s disease

A

Resting tremor, rigidity, akinesia, postural instability (nigrostriatal dopamine depletion)

91
Q

Roth’s spots

A

Retinal hemorrhages with pale centers (bacterial endocarditis)

92
Q

Crigler-Najjar syndrome

A

Severe jaundice in neonate (congenital unconjugated hyperbilirubinemia)

93
Q

Rovsing’s sign

A

Severe RLQ pain with palpation of LLQ (acute appendicitis)

94
Q

McBurney’s sign

A

Severe RLQ pain with rebound tenderness (appendicitis)

95
Q

Fanconi’s anemia

A

Short stature, ⬆️ incidence of tumors/leukemia, aplastic anemia (genetic loss of DNA cross link repair; often progresses to AML)

96
Q

Simian crease

A

Single palmar crease (Down syndrome)

97
Q

Kartagener’s syndrome

A

Situs inversus, chronic sinusitis, bronchiectasis, infertility (dynein arm defect affecting cilia)

98
Q

Addison’s disease

A

Skin hyperpigmentation, hypotension, fatigue (primary adrenocortical insufficiency causes ⬆️ ACTH and ⬆️ alpha-MSH production)

99
Q

Becker’s muscular dystrophy

A

Slow, progressive muscle weakness in boys (X-linked missense mutation in dystrophin; less severe than Duchenne’s)

100
Q

Koplik spots

A

Small, irregular red spots on buccal/lingual mucosa with blue-white centers (measles; rubeola virus)

101
Q

Condylomata lata

A

Smooth, flat, moist, painless white lesions on genitals (secondary syphilis)

102
Q

Bacterial endocarditis

A

Splinter hemorrhages in fingernails

103
Q

“Strawberry tongue”

A

Scarlet fever, Kawasaki disease, toxic shock syndrome

104
Q

Tuner syndrome

A

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema (45,XO)

105
Q

Gout/podagra

A

Sudden swollen, painful big toe joint, tophi (hyperuricemia)

106
Q

Scurvy

A

Swollen gums, mucosal bleeding, poor wound healing, spots on skin (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

107
Q

Osteoarthritis

A

Swollen, hard, painful finger joints (osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes])

108
Q

Aortic valve stenosis

A

Systolic ejection murmur (crescendo-decrescendo)

109
Q

MEN 2A

A

Thyroid and parathyroid tumors, pheocromocytoma (autosomal dominant ret mutation)

110
Q

MEN 2B

A

Thyroid tumors, pheocromocytoma, ganglioneuromatosis (autosomal dominant ret mutation)

111
Q

Babinski sign

A

Tie extension/fanning upon plantar scrape (UMN lesion)

112
Q

Facial nerve (LMN CN VII palsy)

A

Unilateral facial drooping involving forehead

113
Q

Reactive arthritis associated with HLA-B27

A

Urethritis, conjunctivitis, arthritis in male (“can’t pee, can’t see, can’t climb a tree”)

114
Q

Hemangioma

A

Vascular birthmark (port-wine stain) [benign, but associated with Sturge-Weber syndrome]

115
Q

Mallory-Weiss syndrome

A

Vomiting blood following gastroesophageal lacerations (alcoholic and bulimic patients)

116
Q

Whipple’s disease

A

Weight loss, diarrhea, arthritis, fever, adenopathy (Tropheryma whipplei)

117
Q

Subarachnoid hemorrhage

A

“Worst headache of my life”

USMLE Rapid Review (5 decks)

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