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Flashcards in Classic Presentations, USMLE Deck (118):
1

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

2

Achilles tendon xanthoma

Familial hypercholesterolemia (decr LDL receptor signaling)

3

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friederichsen syndrome (meningococcemia)

4

Anterior "drawer sign" positive

ACL injury

5

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin defect)

6

Athlete w/ polycythemia

Secondary to erythropoietin injection

7

Back pain, fever, night sweats, weight loss

Pott disease (vertebral TB)

8

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

9

Blue sclera

Osteogenesis imperfecta (type I collagen defect)

10

Bluish line on gingiva

Burton line (lead poisoning)

11

Bone pain, bone enlargement, arthritis

Paget disease of bone (incr. osteoblastic and osteoclastic activity)

12

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

13

Butterfly facial rash and Raynaud phenomenon in a young female

Systemic lupus erythematosus

14

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

NF type 1 (+pheochromocytoma, optic gliomas)

15

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

McCune-Albright syndrome (mosaic G-protein signaling mutation)

16

Calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne): X linked recessive deletion of dystrophin gene

17

Cherry-red spots on macula

Tay-Sachs (GM2 ganglioside accumulation), Niemann-Pick (sphingomyelin accumulation), or central retinal artery occlusion

18

Chest pain on exertion

Angina (stable: with moderate exertion; unstable: with minimal exertion)

19

Chest pain, pericardial effusion/friction rub, persistent fever following MI

Dressler syndrome (AI-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

20

Child uses arms to stand up from squat

Gowers sign (Duchenne muscular dystrophy)

21

Child w/ fever later develops red rash on face that spreads to body

Slapped cheeks (erythema infectiosum/5th disease: parvovirus B19)

22

Chorea, dementia, caudate degeneration

Huntington disease (AD CAG repeat expansion)

23

Chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria

McArdle disease (muscle glycogen phosphorylase deficiency)

24

Cold intolerance

Hypothyroidism

25

Conjugate lateral gaze palsy, horizontal diplopia

Internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis] or unilateral [stroke])

26

Continuous "machine-like" heart murmur

PDA (close w/ indomethacin; open or maintain w/ misoprostol)

27

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

28

Dark purple skin/mouth nodules in a patient w/ AIDS

Kaposi sarcoma, associated w/ HHV-8

29

Deep, labored breathing/hyperventilation

Kussmaul respirations (diabetic ketoacidosis)

30

Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B1] deficiency)

31

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine [vitamin B1] deficiency)

32

Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

33

Dry eyes, dry mouth, arthritis

Sjogren syndrome (AI destruction of exocrine glands)

34

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

35

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (type III collagen defect)

36

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

37

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

38

Facial muscle spasm upon tapping

Chvostek sign (hypocalcemia)

39

Fat, female, forty, and fertile

Cholelithiasis (gallstones)

40

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

41

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles

42

Fever, night sweats, weight loss

B symptoms (staging) of lymphoma

43

Fibrous plaques in soft tissue of penis

Peyronie disease (connective tissue disorder)

44

Gout, intellectual disability, self-mutilating behavior in a boy

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

45

Green-yellow rings around peripheral cornea

Kayser-Fleischer rings (copper accumulation from Wilson disease)

46

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Peutz-Jegher syndrome (inherited, benign polyposis can cause bowel obstruction; incr cancer risk, mainly GI)

47

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Gaucher disease (glucocerebrosidase deficiency)

48

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in collagen IV)

49

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

50

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

51

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

52

Hypoxemia, polycythemia, hypercapnia

Blue bloater (chronic bronchitis: hyperplasia of mucous cells)

53

Indurated, ulcerated genital lesion

Nonpainful: chancre (primary syphilis, Treponema pallidum)

54

Infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Patau syndrome (trisomy 13)

55

Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

56

Infant w/ hypoglycemia, failure to thrive, and hepatomegaly

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

57

Infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Edwards syndrome (trisomy 18)

58

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal obstruction of biliary tree)

59

Large rash w/ bull's-eye apperance

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia burgdorferi)

60

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

61

Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

62

Mucosal bleeding and prolonged bleeding time

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

63

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

64

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Gardner syndrome (subtype of FAP)

65

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe disease (lysosomal a-1,4-glucosidase deficiency)

66

Neonate w/ arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")

67

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (pituitary infarction)

68

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

Multiple sclerosis

69

Oscillating slow/fast breathing

Cheyne-Stokes respiration (central apnea in CHF or incr intracranial pressure)

70

Painful blue fingers/toes, hemolytic anemia

Cold agglutinin disease (AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

71

Painful, pale, cold fingers/toes

Raynaud phenomenon (vasospasm in extremities)

72

Painful, raised red lesions on finger/toe pads

Osler nodes (infective endocarditis, immune complex deposition)

73

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

74

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

75

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

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

76

Pancreatic, pituitary, parathyroid tumors

MEN 1 (AD)

77

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

Nephrotic syndrome

78

Pink complexion, dyspnea, hyperventilation

Pink puffer (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency)

79

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

Fanconi syndrome (proximal tubular reabsorption defect)

80

Pruritic, purple, polygonal planar nodules and plaques (6 P's)

Lichen planus

81

Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

82

Pupil accommodates but doesn't react

Argyll Robertson pupil (neurosyphilis)

83

Rapidly progressive leg weakness that ascends following GI/upper respiratory infection

Guillain-Barre syndrome (acute AI inflammatory demyelinating polyneuropathy)

84

Rash on palms and soles

Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever

85

Recurrent colds, unusual eczema, high serum IgE

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

86

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

87

Red "currant jelly" stools

Acute mesenteric ischemia (adults), intussusception (infants)

88

Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underlying neoplasm)

89

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

90

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

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

91

Resting tremor, rigidity, akinesia, postural instability

Parkinson disease (nigrostriatal dopamine depletion)

92

Retinal hemorrhages w/ pale centers

Roth spots (bacterial endocarditis)

93

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

94

Severe RLQ pain w/ palpation of LLQ

Rovsing sign (acute appendicitis)

95

Severe RLQ pain w/ rebound tenderness

McBurney sign (acute appendicitis)

96

Short stature, incr incidence of tumors/leukemia, aplastic anemia

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

97

Single palmar crease

Down syndrome

98

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

99

Skin hyperpigmentation, hypotension, fatigue

Addison disease (Primary adrenocortical insufficiency causes incr ACTH and incr alpha-MSH production)

100

Slow, progressive muscle weakness in boys

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

101

Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers

Koplik spots (measles; rubeola virus)

102

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (secondary syphilis)

103

Splinter hemorrhages in fingernails

Bacterial endocarditis

104

Strawberry tongue

Scarlet fever, Kawasaki disease, toxic shock syndrome

105

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

Turner syndrome (45,XO)

106

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

107

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

108

Swollen, hard, painful finger joints

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

109

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

110

Medullary carcinoma of thyroid, pheochromocytoma, parathyroid tumors

MEN 2A (AD ret mutation)

111

Medullary carcinoma of thyroid, pheochromocytoma, ganglioneuromatosis

MEN 2B (AD ret mutation)

112

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

113

Unilateral facial drooping involving forehead

Facial nerve (LMN CN VII palsy)

114

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated w/ HLA-B27

115

Vascular birthmark (port-wine stain)

Hemangioma (benign, but associated w/ Sturge-Weber syndrome)

116

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

117

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (Tropheryma whipplei)

118

Worst headache of my life

Subarachnoid hemorrhage