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Flashcards in Classic Presentations Deck (130):
1

abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

2

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

Clostridium difficile infection

3

Achilles tendon xanthoma

Familial hypercholesterolemia (􏰀LDL receptor signaling)

4

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

5

Anaphylaxis following blood transfusion

IgA deficiency

6

Anterior “drawer sign” ⊕

Anterior cruciate ligament injury

7

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin defect)

8

Athlete with polycythemia

2° to erythropoietin injection

9

Back pain, fever, night sweats

Pott disease (vertebral TB)

10

Bilateral acoustic schwannomas

Neurofibromatosis type 2

11

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

12

Black eschar on face of patient with diabetic ketoacidosis

Mucor or Rhizopus fungal infection

13

Blue sclera

Osteogenesis imperfecta (type I collagen defect)

14

Bluish line on gingiva

Burton line (lead poisoning)

15

Bone pain, bone enlargement, arthritis

Paget disease of bone (􏰁increased osteoblastic and osteoclastic activity)

16

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

17

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

Systemic lupus erythematosus

18

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

Neurofibromatosis type I, pheochromocytoma, optic gliomas

19

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

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

20

Calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

21

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue

Kawasaki disease (treat with IVIG and aspirin)

22

“Cherry-red spots” on macula

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

23

Chest pain on exertion

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

24

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

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2–12 weeks after acute episode)

25

Chest pain with ST depressions on EKG

Unstable angina (troponins −) or NSTEMI (troponins +)

26

Child uses arms to stand up from squat

Gowers sign (Duchenne muscular dystrophy)

27

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

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

28

Chorea, dementia, caudate degeneration

Huntington disease (autosomal dominant CAG repeat expansion)

29

Chorioretinitis, hydrocephalus, intracranial calcifications

Congenital toxoplasmosis

30

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

McArdle disease (skeletal muscle glycogen phosphorylase def.)

31

Cold intolerance

Hypothyroidism

32

Conjugate horizontal gaze palsy, horizontal diplopia

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

33

Continuous “machine-like” heart murmur

PDA (close with indomethacin; open or maintain with PGE analogs)

34

Cutaneous/dermal edema due to connective tissue deposition

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

35

Cutaneous flushing, diarrhea, bronchospasm

Carcinoid syndrome (right-sided cardiac valvular lesions, 􏰂5-HIAA)

36

Dark purple skin/mouth nodules in a patient with AIDS

Kaposi sarcoma, associated with HHV-8

37

Deep, labored breathing/hyperventilation

Kussmaul respirations (diabetic ketoacidosis)

38

Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

39

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine [vitamin B1] deficiency)

40

Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

41

Dry eyes, dry mouth, arthritis

Sjögren syndrome (autoimmune destruction of exocrine glands)

42

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

43

Elastic skin, hypermobility of joints,􏰂bleeding tendency

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

44

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

45

Episodic vertigo, tinnitus, hearing loss

Meniere disease

46

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

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

47

Facial muscle spasm upon tapping

Chvostek sign (hypocalcemia)

48

Fat, female, forty, and fertile

Cholelithiasis (gallstones)

49

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

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

50

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles

51

Fever, night sweats, weight loss

B symptoms (staging) of lymphoma

52

Fibrous plaques in soft tissue of penis with abnormal curvature

Peyronie disease (connective tissue disorder)

53

Golden brown rings around peripheral cornea

Kayser-Fleischer rings (copper accumulation from Wilson disease)

54

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

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

55

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction;􏰂 Increased cancer risk, mainly GI)

56

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises

Gaucher disease (glucocerebrosidase deficiency)

57

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in collagen IV)

58

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Klüver-Bucy syndrome (bilateral amygdala lesion)

59

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

60

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

61

Hypoxemia, polycythemia, hypercapnia

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

62

Indurated, ulcerated genital lesion

Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)

63

Infant with “cherry-red” spot on macula, hepatosplenomegaly, and neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

64

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

Patau syndrome (trisomy 13)

65

Infant with hypoglycemia, hepatomegaly

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

66

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

Edwards syndrome (trisomy 18)

67

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal obstruction of biliary tree)

68

Large rash with bull’s-eye appearance

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

69

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

70

Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

71

Mucosal bleeding and prolonged bleeding time

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

72

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

73

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

Gardner syndrome (subtype of FAP)

74

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

75

Neonate with arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)

76

No lactation postpartum, absent menstruation, cold intolerance, no pubic hair

Sheehan syndrome (pituitary infarction)

77

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

MS

78

Painful blue fingers/toes, hemolytic anemia

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

79

Painful fingers/toes changing color from blue to white to red with cold or stress

Raynaud phenomenon (vasospasm in extremities)

80

Painful, raised red lesions on pads of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

81

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

82

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

83

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

Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys

84

Pancreatic, pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

85

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

Nephrotic syndrome

86

Pink complexion, dyspnea, hyperventilation

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])

87

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

Fanconi syndrome (multiple combined dysfunction of the PCT

88

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

Lichen planus

89

Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

90

Pupil accommodates but doesn’t react

Argyll Robertson pupil (neurosyphilis)

91

Rapidly progressive limb weakness that ascends following GI/URI

Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

92

Rash on palms and soles

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

93

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

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

94

Red “currant jelly” sputum in alcoholic or diabetic patients

Klebsiella pneumoniae pneumonia

95

Red “currant jelly” stools

Acute mesenteric ischemia (adults), intussusception (children)

96

Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underlying neoplasm)

97

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

98

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

von Hippel-Lindau disease (dominant tumor suppressor gene mutation

99

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

100

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

101

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

102

Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

103

Severe RLQ pain with rebound tenderness

McBurney sign (acute appendicitis)

104

Short stature, café au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

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

105

Single palmar crease

Down syndrome

106

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

107

Skin hyperpigmentation, hypotension, fatigue

1° adrenocortical insufficiency (e.g., Addison disease) causes 􏰂ACTH and􏰂α-MSH production)

108

Slow, progressive muscle weakness in boys

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

109

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

Koplik spots (measles; rubeola virus)

110

Smooth, moist, painless, wart-like white lesions on genitals

Condylomata lata (2° syphilis)

111

Splinter hemorrhages in fingernails

Bacterial endocarditis

112

“Strawberry tongue”

Scarlet fever, Kawasaki disease

113

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

Turner 45XO

114

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

115

Swollen gums, mucosal bleeding, poor wound healing, petechiae

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

116

Swollen, hard, painful finger joints

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

117

Systolic ejection murmur (crescendo-decrescendo)

Aortic stenosis

118

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

Osler-Weber-Rendu syndrome

119

Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant RET mutation)

120

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant RET mutation)

121

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

122

Unilateral facial drooping involving forehead

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

123

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

124

Vascular birthmark (port-wine stain) of the face

Nevus flammeus (benign, but associated with Sturge-Weber syndrome)

125

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

126

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (Tropheryma whipplei)

127

“Worst headache of my life”

Subarachnoid hemorrhage

128

Hypertrophic cardiomyopathy, DM and Kyphoscoliosis with pes cavus?

Friedrich's ataxia=>trinucleotide repeat

129

Large Obstructing Eosinophilic Casts?

Think Multiple Myeloma

130

Jejunal Ulcers are indicative of?

gastrinoma