Classic Presentations IV

Question 1

Painless erythematous lesions on palms and soles

Answer 1

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

Question 2

Painless jaundice

Answer 2

Cancer of the pancreatic head obstructing bile duct

Question 3

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

Answer 3

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

Question 4

Pancreatic, pituitary, parathyroid tumors

Answer 4

MEN 1 (autosomal dominant)

Question 5

Periorbital and/or peripheral edema, proteinuria, hypoabuminemia, hypercholestrolemia

Answer 5

Nephrotic syndrome

Question 6

Pink complexion, dyspnea, hyperventilation

Answer 6

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

Question 7

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

Answer 7

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

Question 8

Puritic, purple, polygonal planar papules and plaques

Answer 8

Lichen planus

Question 9

Ptosis, miosis, anhidrosis

Answer 9

Horner syndrome (sympathetic chain lesion)

Question 10

Pupil accommodates but doesn’t react

Answer 10

Argyll Robertson pupil (neurosyphilis)

Question 11

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

Answer 11

Guillain-Barre syndrome (acute inflammatory demylinating polyradiculopathy subtype)

Question 12

Rash on palms and soles

Answer 12

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

Question 13

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

Answer 13

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

Question 14

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 14

Klebsiella pneumoniae pneumonia

Question 15

Red “currant jelly” stools

Answer 15

Acute mesenteric ischemia (adults), intussusception

Question 16

Red, itchy, swollen rash of nipple/areola

Answer 16

Paget disease of breast (Sign of underlying neoplasm)

Question 17

Red urine in the morning, fragile RBC’s

Answer 17

Paroxysmal nocturnal hemoglobinuria

Question 18

Renal cell carcinoma (bilateral) hemangioblastomas, angiomatosis, pheochromocytoma

Answer 18

von Hippel Lindau disease (dominant tumor suppressor gene mutation)

Question 19

Resting tumor, rigidity, akinesia, postural instability, shuffling gate

Answer 19

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

Question 20

Retinal hemorrhages with pale centers

Answer 20

Roth spots (bacterial endocarditis)

Question 21

Severe jaundice in neonate

Answer 21

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Question 22

Severe RLQ pain with palpation of LLQ

Answer 22

Rovsing sign (acute appendicitis)

Question 23

Severe RLQ pain with rebound tenderness

Answer 23

McBurney sign (acute appendicitis)

Question 24

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

Answer 24

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

Question 25

Single palmar crease

Answer 25

Down syndrome

Question 26

Situs inversus, Chronic sinusitis, bronchiectasis, infertility

Answer 26

Zach Fredman syndrome

But really Kartagener syndrome (dynein arm defect affecting cilia)

Question 27

Skin hyperpigmentation, hypotension, fatigue

Answer 27

1° adrenocortical insufficiency ([e.g. Addison disease] causes increased ACTH and increased alpha-MSH production)

Question 28

Slow, progressive muscle weakness in boys

Answer 28

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