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Flashcards in Rapid Review: Classic Presentations Deck (118):
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Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic VT)

1

Achilles tendon xanthoma

Familial hypercholesterolemia

2

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

3

Anterior drawer sign

Anterior cruciate ligament injury

4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin defect)

5

Athlete with polycythemia

Secondary to epo injection

6

Back pain, fever, night sweats, weight loss

Pott disease (vertebral TB)

7

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

8

Blue sclera

Osteogenesis imperfecta (type I collagen defect)

9

Bluish line on gingiva

Burton line (lead poisoning)

10

Bone pain, bone enlargement, arthritis

Paget disease of bone (increased osteoclast and blast activity)

11

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

12

Butterfly facial rash and Raynaud phenomenon in a young female

SLE

13

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

Neurofibromatosis type I (+pheochromocytoma, optic gliomas)

14

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

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

15

Calf pseudohypertrophy

Muscular dystrophy, e.g., Duchenne (X-linked recessive deletion of dystrophin gene)

16

Cherry-red spots on macula

Central retinal artery occlusions from Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation)

17

Chest pain on exertion

Angina (stable = with moderate exertion, unstable = with minimal exertion)

18

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

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

19

Child uses arms to stand up from squat

Gowers sign (Duchenne muscular dystrophy)

20

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

Slapped cheeks from parvovirus B19 (erythema infectiosum, fifth disease)

21

Chorea, dementia, caudate degeneration

Huntington disease (autosomal dominant CAG repeat expansion)

22

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

McArdle disease (muscle glycogen phosphorylase deficiency)

23

Cold intolerance

Hypothyroidism

24

Conjugate lateral gaze palsy, horizontal diplopia

Internuclear ophthalmoplegia due damage to MLF (bilateral from MS, unilateral from stroke)

25

Continuous machine-like heart murmur

Patent ductus arteriosus (close with indomethacin, open or maintain with misoprostol)

26

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (from hypothyroidism, Graves disease)

27

Dark purple skin/mouth nodules in a patient with AIDS

Kaposi sarcoma (HHV-8)

28

Deep, labored breathing/hyperventilation

Kussmaul respirations (diabetic ketoacidosis)

29

Dermatitis, dementia, diarrhea

Pellagra (niacin (B3) deficiency)

30

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine (B1) deficiency)

31

Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

32

Dry eyes, dry mouth, arthritis

Sjögren syndrome (autoimmune destruction of exocrine glands)

33

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

34

Elastic skin, hypermobility of joints

Ehlers-Danos syndrome (type III collagen defect)

35

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

36

Erythroderma, LAD, HSM, atypical T cells

Mycosis fungoides (cutaneous T cell lymphoma) or Sézary syndrome (malignant T cells spread to blood)

37

Facial muscle spasm upon tapping

Chvostek sign (hypocalcemia)

38

Fat, female, forty, and fertile

Cholelithiasis (gallstones)

39

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

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

40

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles

41

Fever, night sweats, weight loss

B symptoms of lymphoma

42

Fibrous plaques in soft tissue of penis

Peyronie disease (connective tissue disorder)

43

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

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

44

Green-yellow rings around peripheral cornea

Kayser-Fleischer rings (Wilson disease)

45

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

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

46

HSM, osteoperosis, neurologic symptoms

Gaucher disease (glucocerebrosidase deficiency)

47

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in collagen IV)

48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Klüver-Bucy syndrome (bilateral amygdala lesion)

49

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

50

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

51

Hypoxemia, polycythemia, hypercapnea

Blue bloater (chronic bronchitis: hyperplasia of mucous cells)

52

Indurated, ulcerated genital lesion

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

53

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

Patau syndrome (trisomy 13)

54

Infant with failure to thrive, HSM, neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

55

Infant with hypoglycemia, failure to thrive, and HSM

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

56

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

Edwards syndrome (trisomy 18)

57

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal obstruction of biliary tree)

58

Large rash with bull's eye appearance

Erythema chronicum migrans (Lyme disease)

59

Lucid interval after TBI

Epidural hematoma (middle meningeal artery rupture)

60

Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

61

Mucosal bleeding and prolonged bleeding time

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

62

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

63

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

Gardener syndrome (subtype of FAP)

64

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

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

65

Neonate with arm paralysis following difficult birth

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

66

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (pituitary infarction)

67

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia)

MS

68

Oscillating slow/fast breathing

Cheynes-Stokes respirations (central apnea in CHF or increased ICP)

69

Painful blue fingers/toes, hemolytic anemia

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumo, infectious nucleosis)

70

Painful, pale, cold fingers/toes

Raynaud phenomenon (vasospasm in extremities)

71

Painful, raised red lesions on pads of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

72

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

73

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

74

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

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

75

Pancreatic, pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

76

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

Nephrotic syndrome

77

Pink complexion, dyspnea, hyperventilation

Pink puffer (emphysema: centriacinar from smoking, panacinar from A1AT deficiency)

78

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

Fanconi syndrome (proximal tubular reabsorption defect)

79

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

Lichen planus

80

Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

81

Pupil accommodates but doesn't react

Argyll Robertson pupil (neurosyphilis)

82

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

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

83

Rash on palms and soles

Coxsackie A, secondary syphilis, Rocky Mountain spotted fever

84

Recurrent colds, unusual eczema, high serum IgE

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

85

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

86

Red "currant jelly" stools

Acute mesenteric ischemia (adults), intussusception (infants)

87

Red, itchy, swollen rash of nipple/areola

Paget disease of breast (sign of 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 disease (nigrostriatal dopamine depletion)

91

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

92

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

93

Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

94

Severe RLQ pain with rebound tenderness

McBurney sign (acute appendicitis)

95

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

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

96

Single palmar crease

Down syndrome

97

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

98

Skin hyperpigmentation, hypotension, fatigue

Addison disease (primary adrenocortical insufficiency causes increased ACTH and increased α-MSH production)

99

Slow, progressive muscle weakness in boys

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

100

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

Koplik spots (measles, rubeola virus)

101

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (secondary syphilis)

102

Splinter hemorrhages in fingernails

Bacterial endocarditis

103

Strawberry tongue

Scarlet fever, Kawasaki disease, TSS

104

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

Turner syndrome (45XO)

105

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

106

Swollen gums, mucosal bleeding, poor wound healing, petechiae

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

107

Swollen, hard, painful finger joints

OA (osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes))

108

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

109

Thyroid and parthyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant ret mutation)

110

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant ret mutation)

111

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

112

Unilateral facial drooping involving forehead

Facial nerve (LMN CN VII) palsy

113

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

114

Vascular birthmark (port-wine stain)

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

115

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

116

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (Tropheryma whipplei)

117

"Worst headache of my life"

Subarachnoid hemorrhage