Step 1: Classic Presentations
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| Abdominal pain, ascites, hepatomegaly | Budd Chiari syndrome (posthepatic venous thrombosis)
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| Achilles tendon xanthoma | Familial hypercholesterolemia (Decrease LDL receptor signaling)
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| Adrenal hemorrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia)
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| Athlete with polycythemia | Erythropoietin injection
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| Back pain, fever, night sweats, weight loss | Potts disease (vertebral TB)
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| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfans syndrome
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| Bilateral hilar adenopathy, uveitis | Sarcoidosis (noncaseating granulomas)
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| Blue sclera | Osteogenesis imperfecta (collagen defect)
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| Bluish line on gingiva | Burton's line (LEAD poisoning)
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| Bone pain and enlargement, arthritis | Pagets disease (increase osteoblastic and osteoclastic activity)
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| Bounding pulses, head bobbing, diastolic heart murmur | Aortic regurgitation
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| Butterfly facial rash, Raynauds phenomenon, young female | Systemic lupus erythematosus
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| Cafe au lait spots, lisch nodules | Neurofibromatosis Type 1 (+pheochromocytoma, optic gliomas); Type 2 (+bilateral acoustic neuromas)
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| Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty | McCune Albright syndrome (mosaic G protein signaling mutation)
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| Calf pseudohypertrophy | Muscular dystrophy (most comm Duchenne): X linked recessive deletion of dystrophin gene
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| "Cherry red" spot on macula | Tay Sachs (ganglioside accumulation, def of Hexosaminidase A) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion
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| Chest pain on exertion | Angina (stable = w/mod exertion, unstable = w/minimal exertion)
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| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler's syndrome (autoimmune mediated post MI fibrinous pericarditis, 1-12 wks after acute episode)
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| Child uses arms to stand up from squat | Gower's sign (Duchenne muscular dystrophy)
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| Child w/fever develops red rash on face that spreads to body | "Slapped cheeks" (erythema infectiosum, 5th disease, parvovirus B19)
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| Chorea, dementia, caudate degeneration | Huntington's disease (aut dominant, CAG repeats)
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| Chronic exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinura | McArdle's disease (muscle glycogen phosphorylase deficiency)
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| Cold intolerance | Hypothyroidism
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| Conjugate lateral gaze palsy, horizontal diplopia | Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
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| Machinery heart murmur | PDA (close with indomethacin, open with misoprostol)
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| Cutaneous/dermal edema, due to connective tissue deposition | Myxedema (caused by hypothyroidism, Graves disease [periorbital])
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| Dark purple skin/mouth nodules | Kaposi's sarcoma, usually AIDS pts, associated with HHV-8
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| Deep labored breathing/hyperventilation | Kussmaul breathing (Diabetic Ketoacidosis)
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| Dermatitis, dementia, diarrhea | Pellagra (niacin [vitamin b3] deficiency)
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| Dilated cardiomyopathy, edema, polyneuropathy | Wet beriberi (thiamine [vitamin b1] deficiency)
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| Dog or cat bite resulting in infection | Pasteurella multocida (cellulitis @ infection site)
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| Dry mouth, Dry eyes, Arthritis | Sjogrens syndrome (autoimmune destruction of exocrine glands)
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| Dysphagia (esophageal webs), glossitis, iron def anemia | Plummer Vinson syndrome (may progress to esophageal squamous cell carcinoma)
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| Elastic skin, hypermobility of joints | Ehlers-Danlos syndrome (type III collagen defect)
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| Enlarged hard left supraclavicular node | VIRCHOWS node (abdominal metastasis)
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| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Sezary syndrome, cutaneous T cell lymphoma, or mycosis fungoides
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| Facial muscle spasm upon tapping | Chvostek's sign (hypocalcemia)
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| Fat, Female, Forty, Fertile | Bile duct blockage (acute cholelithiasis)
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| Fever, chills, headache, myalgia following Abx tx for syphilis | Jarisch-Herxheimer reaction (rapid lysis of spirochetes causes toxin release)
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| Fever, cough, conjunctivitis, diffuse rash, coryza | Measles (morbillivirus)
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| Fever, night sweats, weight loss | B symptoms (lymphoma)
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| Fibrous plaques in soft tissue of penis | Peyronnies disease
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| Gout, mental retardation, self-mutilating behavior in a boy | Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
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| Green-yellow rings around peripheral cornea | Kayser-Fleischer rings (Wilson's disease, copper accumulation)
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| Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands | Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction, increase cancer risk)
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| Hepatosplenomegaly, osteoporosis, neurologic symptoms | Gaucher's disease (glucocerebrocidase deficiency)
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| Hereditary nephritis, sensorineural hearing loss, cataracts | Alport syndrome (mutation in alpha chain of collagen IV)
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| Hypercoagulability leading to migrating DVTs and vasculitis | Trousseau's sign (adenocarcinoma of pancreas or lungs)
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| Hyperphagia, hyperorality, hypersexuality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion)
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| Hyperreflexia, hypertonia, + Babinski sign | UMN damage
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| Hypertension, hypokalemia, metabolic alkalosis | Conn's syndrome (aldosterone producing adenoma)
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| Hyporeflexia, hypotonia, atropy | LMN damage
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| Hypoxemia, polycythemia, hypercapnia | "BLUE bloater" (chronic bronchitis, hyperplasia of mucous cells)
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| Indurated, ulcerated, genital lesion | Nonpainful: primary syphilis (Treponemia pallidum)
Painful, w/exudate: chancroid (Haemophilus ducreyi)
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| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration | Niemann Pick disease (genetic sphingomyelinase deficiency)
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| Infant with hypoglycemia, failure to thrive, hepatomegaly | Cori's disease (debranching enzyme deficiency)
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| Infant w/microcephaly, rocker bottom feet, clenched hands, structural heart defect | Edwards syndrome (trisomy 18)
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| Keratin pearls on a skin biopsy | Squamous cell carcinoma
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| Large rash w/ bulls eye appearance | Erythema chronicum migrans, from Ixodes tick bite (Lyme disease)
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| Lucid interval after traumatic brain injury | Epidural hematoma (middle meningeal artery rupture)
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| Male child, recurrent infections, no mature B cells | Bruton's disease (x-linked agammaglobulinemia)
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| Mucosal bleeding, prolonged bleeding time | Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
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| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth | Gardner's syndrome (subtype of FAP)
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| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance | Pompe's disease (lysosomal a-1,4-glucocidase deficiency
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| Necrotizing vasculitis (lungs), necrotizing glomerulonephritis | Wegener's (c-ANCA +) and Goodpasture (anti-GBM)
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| Neonate w/arm paralysis following difficult birth | Erb-Duchenne palsy, superior trunk (C5-6), brachial plexus injury, "waiters tip"
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| No lactation postpartum, absent menstruation, cold intolerance | Sheehan's syndrome (pituitary infarction)
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| Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia | Multiple Sclerosis
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| Oscillating slow/fast breathing | Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
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| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
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| Painful raised red lesions on palms and soles | Oslers nodes - infective endocarditis
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| Painless erythematous lesions on palms and soles | Janeway lesions - infective endocarditis
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| Painful cold fingers/toes | Raynauds syndrome
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| Painless jaundice | Cancer of the pancreatic head obstructing bile duct
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| Palpable purpura on buttocks/legs, joint pain, abd pain (child) | Henoch-Schonlein Purpura (IgA vasculitis affecting skin and kidneys)
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| Pancreatic, pituitary, parathyroid tumors | MEN 1 (aut dom)
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| Pink complexion, hyperventilation, dyspnea | Pink puffer - emphysema (centroacinar = smoking; panacinar = a1-antitrypsin deficiency)
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| Polyuria, acidosis, growth failure, electrolyte imbalances | Faconi's syndrome (PT reabsorption defect)
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| Positive anterior "drawer sign" | ACL injury
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| Ptosis, miosis, anhidrosis | Horner's syndrome (sympathetic chain lesions)
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| Pupil accommodates, but doesn't react | Argyll Robertson pupil (neurosyphilis)
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| Rapidly progressive leg weakness that ascends (following GI/URI) | Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
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| Rash on palms and soles | Coxsackie A, secondary syphilis, RMSF
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| Recurrent colds, unusual eczema, high serum IgE | Hyper-IgE syndrome
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| Recurrent "currant jelly" sputum in alcoholic or diabetic pts | Klebsiella pneumoniae
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| Red itchy swollen rash of nipple | Pagets disease of the breast (represents underlying neoplasm)
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| Red urine in the morning, fragile RBCs | Paroxysmal nocturnal hemoglobinuria
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| Renal cell carcinoma, bilateral, hemangioblastomas, angiomatosis, phenochromocytoma | VHL
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| Resting tremor, rigidity, akinesia, postural instability | Parkinson's disease
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| Retinal hemorrhages with pale centers | Roth spots - bacterial endocarditis
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| Severe jaundice in neonate | Crigler-Najjar (unconjugated hyperbilirubinemia)
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| Severe RLQ pain w/rebound tenderness | McBurney's sign (appendicitis)
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| Short stature, increase incidence of tumors, leukemia, aplastic anemia | Faconi's anemia (genetic loss of DNA crosslink repair, often progresses to AML)
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| Single palm crease | Simian crease - Down syndrome
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| Situs inversus, chronic sinusitis, bronchiectasis, infertility | Kartagener's syndrome (dynein arm defect affecting cilia)
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| Skin hyperpigmentation | Addison's disease (primary adrenocortical insufficiency causes increase ACTH and alpha-MSH production)
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| Slow progressive muscle weakness in boys | Beckers muscular dystrophy (X linked missense mutation in dystrophin, less severe than Duchenne)
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| Small, irregular red spots on buccal/lingual mucosa, with blue-white centers | Koplick spots - measles - rubeola virus
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| Smooth, flat, moist, white lesions on genitals | Condylomata lata (2ndary syphilis)
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| Splinter hemorrhages in fingernails | Bacterial endocarditis
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| Strawberry tongue | Scarlet fever, Kawasaki disease, TSS
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| Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma @ birth | Turner syndrom, 45XO (short stature, webbed neck, lymphedema)
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| Sudden swollen big painful toe joint | Gout/podagra (hyperuricemia)
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| Swollen gums, mucous bleeding, poor wound healing, spots on skin | Scurvy (Vit C deficiency) --- can't hydroxylate proline/lysine for collagen synthesis
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| Swollen hard, painful, finger joints | Osteoarthritis -
Bouchard nodes: PIP
Heberden's nodes: DIP
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| Systolic ejection murmur | Aortic valve stenosis
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| Toe extension/fanning upon plantar scrape | Babinski sign (UMN lesion)
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| Thyroid and parathyroid tumors, pheochromocytoma | MEN 2A (aut dom ret mutation)
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| Thyroid tumors, pheochromocytoma, ganglioneuromatosis | MEN 2B (aut dom ret mutation)
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| Unilateral facial dropping involving forehead | Bells palsy (LMN CN VII palsy)
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| Urethritis, conjunctivitis, arthritis in a male | Reactive arthritis associated with HLA-B27
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| Vascular birthmark (port wine stain) | Hemangioma (benign, but associated with sturge-weber syndrome)
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| Vomiting blood following esophagogastric lacerations | Mallory-Weiss syndrome
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| "Waxy" casts with very low urine flow | Chronic end stage-renal disease
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| WBC casts in urine | Acute pyelonephritis
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| Weight loss, diarrhea, arthritis, fever, adenopathy | Whipple's disease (Tropheryma whippelii)
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| "Worst HA of my life" | Subarachnoid hemorrhage
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To hide a column, click on the column name.
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You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
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