classic presentations 3 Flashcards
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and (child) kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Neurosyphilis (Argyll Robertson pupil)
Rapidly progressive limb weakness that ascends following GI/ upper respiratory infection
Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (children)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability,
Parkinson disease (loss of dopaminergic neurons in substantia shuffling gait nigra pars compacta)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
Short stature, café au lait spots, thumb/radial defects, ^incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Single palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
1° adrenocortical insufficiency (eg, Addison disease) causes ^ACTH and ^α-MSH production)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (2° syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
“Strawberry tongue”
Scarlet fever, Kawasaki disease
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage
