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Flashcards in Classic Presentations Deck (119)
1

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

2

Achilles tendon xanthoma

Familial hypercholesterolemia ( LDL receptor signaling)

3

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan's syndrome (fibrillin defect)

5

Athlete with polycythemia

Erythropoietin injection

6

Back pain, fever, night sweats, weight loss

Pott's disease (vertebral tuberculosis)

7

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

8

Blue sclera

Osteogenesis imperfecta (Type I collagen defect)

9

Bluish line on gingiva

Burton's line (lead poisoning)

10

Bone pain, bone enlargement, arthritis

Paget's disease of bone (osteoblastic and osteoclastic activity)

11

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

12

Butterfly facial rash and Raynaud's phenomenon in young female

Systemic lupus erythematosus

13

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

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

14

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

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

15

Calf pseudohypertrophy

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

16

Cherry-red spot on macula

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

17

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

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

18

Child uses arms to stand up from squat

Gowers' sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)

19

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

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

20

Chorea, dementia, caudate degeneration

Huntington's disease (autosomal-dominant CAG repeat expansion)

21

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

McArdle's disease (muscle glycogen phosphorylase deficiency)

22

Cold intolerance

Hypothyroidism

23

Conjugate lateral gaze palsy, horizontal diplopia

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

24

Continuous "machinery" heart murmur

PDA (close with indomethacin; open with misoprostol)

25

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (hypothyroidism, Graves' disease)

26

Dark purple skin/mouth nodules

Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)

27

Deep, labored breathing/hyperventilation

Kussmaul breathing (diabetic ketoacidosis)

28

Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

29

Dilated cardiomyopathy, edema, polyneuropathy

Wet beriberi (thiamine [vitamin B1] deficiency)

30

Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

31

Dry eyes, dry mouth, arthritis

Sjogren's syndrome (autoimmune destruction of exocrine glands)

32

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

33

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome ( Type III collagen defect)

34

Enlarged, hard left supraclavicular node

Virchow's node (abdominal metastasis)

35

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

36

Facial muscle spasm upon tapping

Chvostek's sign (hypocalcemia)

37

Fat, female, forty, and fertile

Acute cholecystitis (bile duct blockage)

38

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

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

39

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles (Morbillivirus)

40

Fever, night sweats, weight loss

B symptoms (lymphoma)

41

Fibrous plaques in soft tissue of penis

Peyronie's disease (connective tissue disorder)

42

Gout, mental retardation, self-mutilating behavior in a boy

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

43

Green-yellow rings around peripheral cornea

Kayser-Fleischer rings (copper accumulation from Wilson's disease)

44

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; cancer risk)

45

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Gaucher's disease (glucocerebrosidase deficiency, glucocerebroside accumulation)

46

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport's syndrome (mutation in chain of type IV collagen)

47

Hypercoagulability (leading to migrating DVTs and vasculitis)

Trousseau's syndrome (adenocarcinoma of pancreas or lung)

48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

49

Hyperreflexia, hypertonia, positive Babinski sign

UMN damage

50

Hypertension, hypokalemia, metabolic acidosis

Conn's syndrome (Primary hyperaldosteronism)

51

Hyporeflexia, hypotonia, atrophy

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

Painful, with exudate:

Chancroid (Haemophilus ducreyi)

55

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

56

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Cori's disease (debranching enzyme deficiency, 1,6-glucosidase)

57

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

Edwards' syndrome (trisomy 18)

58

Jaundice, RUQ pain, fever

Charcot's triad (ascending cholangitis)

59

Keratin pearls on a skin biopsy

Squamous cell carcinoma

60

Large rash with bull's-eye appearance

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

61

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

62

Male child, recurrent infections, no mature B cells

Bruton's disease (X-linked agammaglobulinemia)

63

Mucosal bleeding and prolonged bleeding time

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

64

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

Gardner's syndrome (subtype of FAP)

65

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe's disease (lysosomal 1,4-glucosidase deficiency)

66

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)

67

Neonate with arm paralysis following difficult birth

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

68

No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarction)

69

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

70

Oscillating slow/fast breathing

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

71

Painful blue fingers/toes, hemolytic anemia

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

72

Painful, pale, cold fingers/toes

Raynaud's syndrome (vasospasm in extremities)

73

Painful, raised red lesions on palms and soles

Osler's node (infective endocarditis)

74

Painless, erythematous lesions on palms and soles

Janeway lesions (infective endocarditis)

75

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

76

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

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

77

Pancreatic, pituitary, parathyroid tumors

Wermer's syndrome (MEN 1 - autosomal dominant)

78

Pink complexion, dyspnea, hyperventilation

Pink puffer (emphysema: centroacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])

79

Polyuria, acidosis, growth failure, electrolyte imbalances

Fanconi's syndrome (proximal tubular reabsorption defect)

80

Positive anterior "drawer sign"

Anterior cruciate ligament (ACL) injury

81

Ptosis, miosis, anhidrosis

Horner's 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 (autoimmune acute 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

Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)

86

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

87

Red, itchy, swollen rash of nipple/areola

Paget's disease of the breast (represents underlying neoplasm)

88

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

89

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

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

90

Resting tremor, rigidity, akinesia, postural instability

Parkinson's disease (nigrostriatal dopamine depletion)

91

Retinal hemorrhages with pale centers

Roth's spots (bacterial endocarditis)

92

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

93

Severe RLQ pain with rebound tenderness

McBurney's sign (appendicitis)

94

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

Fanconi's anemia (genetically loss of DNA crosslink repair; often progresses to AML)

95

Single palm crease

Simian crease (Down syndrome)

96

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener's syndrome (dynein arm defect affecting cilia)

97

Skin hyperpigmentation

Addison's disease (Primary adrenocortical insufficiency of autoimmune or infectious etiology, ACTH and MSH production)

98

Slow, progressive muscle weakness in boys

Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)

99

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

Koplik spots (measles, rubeola virus)

100

Smooth, flat, moist white lesions on genitals

Condylomata lata (Secondary syphilis)

101

Splinter hemorrhages in fingernails

Bacterial endocarditis

102

Strawberry tongue

Scarlet fever, Kawasaki disease, toxic shock syndrome

103

Streak ovaries, congenital heart disease, horseshoe kidney

Turner syndrome (45XO, short stature, webbed neck, lymphedema)

104

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

105

Swollen gums, mucous bleeding, poor wound healing, spots on skin

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

106

Swollen, hard, painful finger joints

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

107

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

108

Thyroid and parathyroid tumors, pheochromocytoma

Sipple's syndrome (MEN 2A, autosomal dominant ret mutation)

109

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

110

Toe extension/fanning upon plantar scrape

Babinski's sign (UMN lesion)

111

Unilateral facial drooping involving forehead

Bell's palsy (LMN CN VII palsy)

112

Urethritis, conjunctivitis, arthritis in a male

Reiter's syndrome (reactive arthritis associated with HLA-B27)

113

Vascular birthmark (port-wine stain)

Hemangioma (benign, but associated with Sturge-Weber syndrome)

114

Vasculitis from exposure to endotoxin causing glomerular thrombosis

Shwartzman reaction (following second exposure to endotoxin)

115

Vomiting blood following esophagogastric lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

116

Waxy casts with very low urine flow

Chronic end-stage renal disease

117

WBC casts in urine

Acute pyelonephritis

118

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's disease (Tropheryma whippelii)

119

Worst headache of my life

Subarachnoid hemorrhage