classic presentations 3

Question 1

Painless jaundice

Answer 1

Cancer of the pancreatic head obstructing bile duct

Question 2

Palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria

Answer 2

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

Question 3

Pancreatic, pituitary, parathyroid tumors

Answer 3

MEN 1 (autosomal dominant)

Question 4

Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia

Answer 4

Nephrotic syndrome

Question 5

Pink complexion, dyspnea, hyperventilation

Answer 5

Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])

Question 6

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

Answer 6

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

Question 7

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

Answer 7

Lichen planus

Question 8

Ptosis, miosis, anhidrosis

Answer 8

Horner syndrome (sympathetic chain lesion)

Question 9

Pupil accommodates but doesn’t react

Answer 9

Neurosyphilis (Argyll Robertson pupil)

Question 10

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

Answer 10

Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

Question 11

Rash on palms and soles

Answer 11

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

Question 12

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

Answer 12

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

Question 13

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 13

Klebsiella pneumoniae pneumonia

Question 14

Red “currant jelly” stools

Answer 14

Acute mesenteric ischemia (adults), intussusception (children)

Question 15

Red, itchy, swollen rash of nipple/areola

Answer 15

Paget disease of the breast (sign of underlying neoplasm)

Question 16

Red urine in the morning, fragile RBCs

Answer 16

Paroxysmal nocturnal hemoglobinuria

Question 17

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

Answer 17

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

Question 18

Resting tremor, rigidity, akinesia, postural instability,

Answer 18

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

Question 19

Retinal hemorrhages with pale centers

Answer 19

Roth spots (bacterial endocarditis)

Question 20

Severe jaundice in neonate

Answer 20

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Question 21

Severe RLQ pain with palpation of LLQ

Answer 21

Rovsing sign (acute appendicitis)

Question 22

Severe RLQ pain with deep tenderness

Answer 22

McBurney sign (acute appendicitis)

Question 23

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

Answer 23

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

Question 24

Single palmar crease

Answer 24

Down syndrome

Question 25

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 25

Kartagener syndrome (dynein arm defect affecting cilia)

Question 26

Skin hyperpigmentation, hypotension, fatigue

Answer 26

1° adrenocortical insufficiency (eg, Addison disease) causes ^ACTH and ^α-MSH production)

Question 27

Slow, progressive muscle weakness in boys

Answer 27

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


Question 28

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

Answer 28

Koplik spots (measles [rubeola] virus)

Question 29

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

Answer 29

Condylomata lata (2° syphilis)

Question 30

Splinter hemorrhages in fingernails

Answer 30

Bacterial endocarditis

Question 31

“Strawberry tongue”

Answer 31

Scarlet fever, Kawasaki disease

Question 32

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

Answer 32

Turner syndrome (45,XO)

Question 33

Sudden swollen/painful big toe joint, tophi

Answer 33

Gout/podagra (hyperuricemia)

Question 34

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Answer 34

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

Question 35

Swollen, hard, painful finger joints

Answer 35

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

Question 36

Systolic ejection murmur (crescendo-decrescendo)

Answer 36

Aortic stenosis

Question 37

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

Answer 37

Osler-Weber-Rendu syndrome

Question 38

Thyroid and parathyroid tumors, pheochromocytoma

Answer 38

MEN 2A (autosomal dominant RET mutation)

Question 39

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Answer 39

MEN 2B (autosomal dominant RET mutation)

Question 40

Toe extension/fanning upon plantar scrape

Answer 40

Babinski sign (UMN lesion)

Question 41

Unilateral facial drooping involving forehead

Answer 41

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

Question 42

Urethritis, conjunctivitis, arthritis in a male

Answer 42

Reactive arthritis associated with HLA-B27

Question 43

Vascular birthmark (port-wine stain) of the face

Answer 43

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

Question 44

Vomiting blood following gastroesophageal lacerations

Answer 44

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Question 45

Weight loss, diarrhea, arthritis, fever, adenopathy

Answer 45

Whipple disease (Tropheryma whipplei)

Question 46

“Worst headache of my life”

Answer 46

Subarachnoid hemorrhage