Classic Presentations From Usmle First Aid

Front 1

Abdominal pain, ascites, hepatomegaly

Back 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Front 2

Achilles tendon xanthoma

Back 2

Familial hypercholesterolemia (v. incr LDL)

Front 3

Adrenal hemorrhage, hypotension, DIC

Back 3

Waterhouse-Friederichsen syndrome (meningococcemia)

Front 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Back 4

Marfan's (fibrilin defect)

Front 5

Athlete with polycythemia

Back 5

Erythropoietin doping

Front 6

Back pain, fever, night sweats, weight loss

Back 6

Pott's disease (vertebral TB)

Front 7

Bilateral Bell's Palsy (2 dx's)

Back 7

Guillane-Barre, Lyme disease

Front 8

Bilateral hilar adenopathy, uveitis

Back 8

Sarcoidosis (non-caseating granulomas) (caseating = TB)

Front 9

Blue sclera

Back 9

Osteogenesis imperfecta (Type I collagen defect)

Front 10

Bluish line on gingiva

Back 10

Burton's line - lead poisoning

Front 11

Bone pain/enlargement, arthritis

Back 11

Paget's disease of bone (incr osteoblastic AND osteoclastic activity)

Front 12

Bounding pulses, diastolic murmur, head bobbing

Back 12

Aortic regurg.

Front 13

Cafe-au-lait spots, Lisch nodules (iris hemartoma), pheochromocytoma, optic glioma

Back 13

Neurofibromatosis Type I

Front 14

Easiest way to segregate neurofibromatosis I from II

Back 14

II has bilateral acoustic neuromas, I does not

Front 15

Calf pseudohypertrophy

Back 15

Muscular dystrophy

Front 16

Cherry red spot on macula (2 dx's)

Back 16

Tay-sachs, Niemann-Pick

Front 17

Ganglioside accumulation

Back 17

Tay-sachs

Front 18

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

Back 18

Dressler's syndrome (autoimmue post-MI fibrinous pericarditis, 1-12 weeks later)

Front 19

Child uses arms to stand up from squat

Back 19

Gower's sign - Duchenne muscular dystrophy

Front 20

Inheritance of Duchenne

Back 20

X-linked recessive (a deleted dystrophin gene)

Front 21

Child with red rash on face/cheeks that spreads to body

Back 21

Erythema infectiosum (fifth disease, parvovirus B19, "slapped cheeks")

Front 22

Chorea, dementia, caudate degeneration

Back 22

Huntigton's (autosomal dom. CAG repeat; ACh is decr)

Front 23

Chornic exercise intolerance with myalgia, fatigue, painful cramps

Back 23

McArdle's disease (phosphorylse deficiency)

Front 24

Conjugate lateral gaze palsy, horizontal diploplia

Back 24

Internuclear ophthalmoplegia (damage to MLF; MS if bilat., stroke if unilat.)

Front 25

Cutaneous/dermal edema due to connective tissue deposit

Back 25

Myxedema (hypothyroidism, Graves' disease)

Front 26

Dark purple skin/mouth nodules

Back 26

Kaposi's sarcoma (AIDS + HHV-8)

Front 27

Dermatitis, dementia, diarrhea

Back 27

Pellagra (Niacin/B3 deficiency)

Front 28

Dilated cardiomyopathy, edema, polyneuropahty

Back 28

Wet beriberi (thiamine/B1 deficiency) [Dry beriberi = polyneuropathy alone]

Front 29

Dog or cat bite leads to infeciton

Back 29

Pastuerella multocida (cellulitis at inoculation site)

Front 30

Dry eyes, dry mouth, arhtritis

Back 30

Sjorgren's

Front 31

Dysphagia due to esophageal webs, glossitis, iron deficiency anemia

Back 31

Plummer-Vinson syndrome

Front 32

Cancer following Plummer-Vinson syndrome

Back 32

Esophageal squamous cell carcinoma

Front 33

Elastic skin, joint hypermobility

Back 33

Ehlers-Danlos syndrome (Type III collagen defect)

Front 34

Enlarged, hard left supraclavicular node

Back 34

Abdominal metastasis (Virchow's node)

Front 35

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Back 35

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

Front 36

Facial muscle spasm upon tapping

Back 36

Hypocalcemia (Chvostek's sign)

Front 37

Fever, chills, headache, myalgia following abx tx for syphilis

Back 37

Jarisch-Herxheimer reaction (lysis of spirochetes --> toxin release)

Front 38

Fever, cough, conjunctivitis, coryza, diffuse rash

Back 38

Measles (Morbillivirus)

Front 39

Fibrous plaque in soft tissue of penis

Back 39

Peyronie's disease

Front 40

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

Back 40

Lesch-Nyhan (HGPRT deficiency --> no purine salvage pathway; X-linked recessive)

Front 41

HGPRT deficiency

Back 41

Lesch-Nyhan

Front 42

Green-yellow rings around peripheral cornea

Back 42

Kayser-Fleischer rings (Wilson's)

Front 43

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Back 43

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstr.; incr colon CA risk)

Front 44

Hepatosplenomegaly, osteoporosis, neurologic symptoms presenting in a toddler

Back 44

Gaucher's (glucocerebrosidase deficiency) (Crinkled tissue paper appearace of cells)

Front 45

Glucocerebrosidase deficiency

Back 45

Gaucher's (most common lysosomal storage disease)

Front 46

Hereditary nephritis, sensorineural hearing loss, cataracts

Back 46

Alport's syndrome (Type IV collagen defect, most commonly on alpha-5 chain)

Front 47

Hypercoagulability (Trousseau's sign of Malignancy)

Back 47

Adenocarcinoma of pancreas or lung

Front 48

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Back 48

Kluver-Bucy syndrome (Bilat. amygdala lesion)

Front 49

HTN, hypokalemia, metabolic acidosis

Back 49

Conn's syndrome (primary aldosteronism)

Front 50

Hypoxemia, polycythemia, hypercapnia

Back 50

Blue bloater (chronic bronchitis: hyperplasia of mucous cells)

Front 51

Nonpainful, indurated, ulcerated genital lesion

Back 51

Chancre (primary syphylis)

Front 52

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Back 52

Niemann-Pick (sphingomyelinase deficiency)

Front 53

Sphingomyelinase deficiency

Back 53

Niemann-Pick

Front 54

Infant with hypoglycemia, failure to thrive, hepatomegaly

Back 54

Cori's disease (debranching enzyme deficiency)

Front 55

Infant with microcephaly, micrognathia (small jaw), rocker-bottom feet, strucutral heart defect, clenched hands

Back 55

Edward's (trisomy 18)

Front 56

Jaundice, RUQ pain, fever

Back 56

Ascending cholangitis

Front 57

Keratin pearls on a skin lesion

Back 57

Squamous cell carcinoma (can also get keratin pearls in lung & cervix)

Front 58

Large rash with bull's-eye appearance

Back 58

Erythema chronicum migrans (Lyme disease)

Front 59

Lucid interval following traumatic brain injury

Back 59

Epidural hematoma

Front 60

Male child, recurrent infections, no mature B cells

Back 60

Bruton's disease (X-linked agammaglobulinemia)

Front 61

Mucosal bleeding and prolonged bleeding time

Back 61

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

Front 62

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

Back 62

Gardner's syndrome (AD mutation on APC gene)

Front 63

Cancer with Gardner's syndrome

Back 63

Colon cancer

Front 64

Necrotizing vasculitis of lungs and necrotizing glomerulonephritis

Back 64

Wegener's or Goodpasture's (NOTE: Wegener's is c-ANCA (+) & incl upper airway disease, i.e. soft palate & sinuses)

Front 65

Neonate with arm paralysis following difficult birth

Back 65

Erb-Duchenne palsy

Front 66

Waiter's tip

Back 66

Superior trunk (C5-C6) brachial plexus injury (Erb-Duchenne in neonate)

Front 67

Postpartum with no lactation, amenorrhea, and cold intolerance

Back 67

Sheehan's syndrome (pituitary infarct)

Front 68

Nystagmus, intention tremor, scanning speech

Back 68

Charcot's triad (Multiple sclerosis)

Front 69

Oscillating between slow/fast breathing

Back 69

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

Front 70

Painful blue finger/toes, hemolytic anemia

Back 70

Cold agglutinin disease (Mycoplasma pneumonia or EBV)

Front 71

Painful, pale, and cold fingers or toes

Back 71

Raynaud's syndrome (vasospasm in extremities)

Front 72

Painful, raised red lesions on palms and soles

Back 72

Osler's nodes (infective endocarditis)

Front 73

Painless jaundice in adult

Back 73

Cancer of pancreatic head (obstucting bile duct)

Front 74

Child with palpable purpura, joint pain, abdominal pain

Back 74

Henoch-Schonlein purpura (IgA vasculitis in skin, kidneys)

Front 75

Pancreatic, pituitary, and parathyroid tumors

Back 75

Wermer's syndrome (MEN 1)

Front 76

Pink complextion, dyspnea, hyperventilation

Back 76

Pink puffer (emphysema)

Front 77

Cause of centroacinar emphysema

Back 77

Smoking

Front 78

Cause of panacinar emphysema

Back 78

Alpha 1-antitrypsin deficiency

Front 79

Young girl with polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature

Back 79

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

Front 80

Polyuria, acidosis, growth failure, electrolyte imbalances

Back 80

Fanconi's syndrome (proximal tubular reabsorption defect)

Front 81

Ptosis, miosis, anhidrosis

Back 81

Horner's syndrome (Pancoast's tumor is common cause)

Front 82

Pupil accommodates but doesn't react

Back 82

Argyll Robertson (neurosyphilis)

Front 83

Following GI or upper respiratory infection: rapidly progressive, ascending leg weakness

Back 83

Guillan-Barre syndrome (no sensory loss, only motor; life-threatening if ascends to diaphragm)

Front 84

Three dx's for rash on palms and soles

Back 84

Secondary syphylis, rocky mountain spotted fever, coxsackievirus A

Front 85

Recurrent colds, truncal eczema, and high IgG

Back 85

Job's syndrome aka hyper IgE syndrome (neutrophil chemotaxis abnormality)

Front 86

Red "currant jelly" sputum

Back 86

Klebsiella pneumonia

Front 87

Red "currant jelly" stool in a child

Back 87

Intussusception

Front 88

Rust-colored sputum

Back 88

Strep. pneumoniae

Front 89

Red, itchy, swollen rash of nipple/areola

Back 89

Paget's disease of breast (represents underlying neoplasm)

Front 90

Red urine in the morning, fragile RBCs

Back 90

Paroxysmal nocturnal hemoglobinuria (deficiency of CD55 and/or CD59 --> normally protect RBCs)

Front 91

Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma

Back 91

vHL disease (dominant tumor supressor gene mutation)

Front 92

Resting tremor, rigidity, akinesia, postural instability

Back 92

Parkinson's (nigrostriata dopamine depletion)

Front 93

Restrictive cardiomyopathy in adult OR cardiomegaly in child, Exercise intolerance

Back 93

Pompe's disease (lysosomal glucosidase deficiency)

Front 94

Retinal hemorrhages with pale centers

Back 94

Roth's spots (bacterial endocarditis)

Front 95

Severe jaundice in neonate

Back 95

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Front 96

Short stature with aplastic anemia and increased incidence of tumors/leukemia

Back 96

Fanconi's anemia

Front 97

Fanconi's anemia often progresses to what tumor?

Back 97

AML

Front 98

Single palm crease

Back 98

Simian crease (Down syndrome)

Front 99

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Back 99

Kartagener's syndrome (dynein defect --> immotile cilia)

Front 100

Skin hyperpigmentation

Back 100

Addison's disease (primary adrenocortical insuff.; hyperpigmentation ONLY seen in primary!)

Front 101

Slow, progressive muscle weakness in a boy. Less severe than Duchenne's

Back 101

Becker's muscular dystrophy

Front 102

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

Back 102

Koplik spots (Measles)

Front 103

Small, nontender, erythematous lesions on palms/soles

Back 103

Janeway lesions (infective endocarditis)

Front 104

Smooth, flat, moist white lesions on genitals

Back 104

Condylomata lata (secondary syphilis)

Front 105

Splinter hemorrhages in fingernails

Back 105

Bacterial endocarditis

Front 106

Strawberry tongue (3 dx's)

Back 106

Scarlet fever, Kawasaki disease, toxic shock syndrome

Front 107

Streak ovaries, congenital heart disease, horseshoe kidney

Back 107

Turner's syndrome (XO, short stature, webbed neck, lymphedema)

Front 108

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

Back 108

Scurvy

Front 109

Location of Bouchard's nodes

Back 109

PIP

Front 110

Location of Heberden's nodes

Back 110

DIP

Front 111

Systolic ejection murmur, crescendo-decrescendo

Back 111

Aortic stenosis

Front 112

Medullary carcinoma of thyroid, parathyroid tumors, pheochromocytoma

Back 112

Sipple's syndrome (MEN 2A)

Front 113

Painful ulcerated genital lesion with exudate

Back 113

Chancroid (Haemophilus ducreyi)

Front 114

Urethritis, conjunctivitis, arthritis in a male

Back 114

Reiter's syndrome (reactive arthritis assoc. w HLA-B27)

Front 115

Port-wine stain

Back 115

Hemangioma (can be benign or Sturge-Weber)

Front 116

Vasculitis from exposure to endotoxin causing glomerular thrombosis

Back 116

Shwartzman reaction (following 2nd exposure to same toxin)

Front 117

Vomiting blood following esophagogastric laceration

Back 117

Mallory-Weiss syndrome (alcoholic or eating disorder)

Front 118

Waxy casts with very low urine flow

Back 118

Chronic end-stage renal disease

Front 119

WBC casts in urine

Back 119

Acute pyelonephritis

Front 120

Weight loss, diarrhea, arthritis, fever, adenopathy

Back 120

Whipples disease (Tropheryma Whippelii)

Front 121

ADPKD with severe headache

Back 121

Berry aneurysm