FA 2010 Classic Presentations
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| Abdominal pain, ascites, hepatosplenomegaly | Budd-Chiari Syndrome (posthepatic venous thrombosis)
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| Achilles tendon xanthoma | Familial hypercholesterolemia
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| Adrenal hemorrhage, hypotension, DIC | Waterhouse-Friderichsen Syndrome (meningococcemia)
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| Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints | Marfan's Syndrome (fibrillin defect)
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| Back Pain, fever, night sweats, weight loss | Pott's Disease (vertebral tuberculosis)
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| Big toe extension/fanning upon plantar scrape | Babinski's Sign (UMN lesion)
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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, bone enlargement, arthritis | Paget's Disease of bone (increased osteoblast and osteoclast activity)
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| Café-au-lait spots, Lisch nodules (iris hamartoma) | Neurofibromatosis type I
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| Café-au-lait spots, Lisch nodules (iris hamartoma), + bilateral acoustic neuromas | Neurofibromatosis type II
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| Calf pseudohypertrophy | Duchene's Muscular Dystrophy
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| "Cherry-red spot" on macula | Tay-Sachs (ganglioside accumulation), Niemann-Pick (lysosomal storage disease)
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| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler's Syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
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| Child with fever develops red rash on face that spreads to body | "Slapped Cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
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| Chorea, dementia, caudate degeneration | Huntington's disease (autosomal-dominant CAG repeat expansion)
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| Chronic exercise intolerance with myalgia, fatigue, painful cramps | McArdle's disease (muscle phosphorylase deficiency)
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| Cold intolerance | Hypothyroidism
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| Continuous "machinery" murmur | PDA (close with indomethacin; open with misoprostol)
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| Cutaneous/dermal edema due to connective tissue deposition | Myxedema (hypothyroidism, Graves' Disease)
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| Dark purple skin/ mouth nodules | Kaposi's Sarcoma (usually in AIDS patients [gay men]: associated with HHV-8)
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| Deep labored breathing/hyperventilation | Kussmaul breathing (DKA)
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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
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| Dry eyes, dry mouth, arthritis | Sjogren's syndrome (autoimmune destruction of exocrine glands)
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| Dysphagia (esophageal webs), glossitis, iron deficiency anemia | Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma)
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| Elastic skin, hypermobility of joints | Ehlers-Danlos syndrome (collagen defect)
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| Enlarged, hard left supraclavicular node | Virchow's node (abdominal metastasis)
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| Facial muscle spasm upon tapping | Chvostek's sign (hypocalcemia)
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| Fat, female, forty, and fertile | Acute cholecystitis (bile duct blockage)
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| Fever, chills, headache, myalgia following antibiotic treatment for syphilis | Jarisch-Herxhimer reaction (rapid lysis of spirochetes results in toxin release)
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| Fever, cough, conjunctivitis, coryza, diffuse rash | 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 | Peyronie's disease (connective tissue disorder)
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| Gout, mental retardation, self-mutilating behavior in a boy | Lesch-Nyhan syndrome (HGPRT deficiency)
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| Green-yellow rings around peripheral cornea | Kayser-Fleischer rings (copper accumulation from Wilson's disease)
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| Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands | Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)
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| Hepatosplenomegaly, osteoporosis, neurologic symptoms | Gaucher's Disease (glucocerebrosidase deficiency)
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| Hereditary nephritis, sensorineural hearing loss, cataracts | Alport's syndrome (collagen mutation)
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| Hyperphagia, hypersexuality, hyperorality, hyperdocility | Kluver-Bucy syndrome (bilateral amygdala lesion)
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| Hypertension, hypokalemia, metabolic acidosis | Conn's syndrome (primary hyperaldosteronism)
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| Hypoxemia, polycythemia, hypercapnia | "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
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| Indurated, ulcerated genital lesion (nonpainful) | Chancre (primary syphilis: Treponema pallidum)
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| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration | Neimann-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 with microcephaly, rocker-bottom feet, structural heart defect | Edward's Syndrome (trisomy 18)
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| Jaundice, RUQ pain, fever | Charcot's triad (ascending cholangitis)
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| Keratin pearls on a skin lesion | Squamous cell carcinoma
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| Large rash with bull's-eye appearance | Erythema chronicum migrans from tick bite (Lyme disease: Borrelia)
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| Male child, recurrent infections, no mature B cells | Bruton's disease (X-linked agammaglobulinemia)
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| Mucosal bleeding and 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/supernumary teeth | Gardner's Syndrome (genetic disorder, predisposes to colon cancer)
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| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis. | Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease)
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| Neonate with arm paralysis following difficult birth | Erb-Duchenne Palsy (superior trunk [C5-6] brachial plexus injury: "waiter's 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 | Charcot's triad (MS)
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| Oscillating slow/fast breathing | Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
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| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (IgM) (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae or infectious mononucleosis)
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| Painful, pale, cold fingers/toes | Raynaud's syndrome (vasospasm in extremity)
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| Painful, raised red lesions on palms and soles | Osler's nodes (infective endocarditis)
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| Painless jaundice | Cancer of the pancreatic head obstructing bile duct
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| Palpable purpura, joint pain, abdominal pain (child) | Henoch-Schlonlein purpura (IgA vasculitis affecting skin and kidneys)
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| Pancreatic, pituitary, parathyroid tumors | Wermer's Syndrome (MEN 1)
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| Pink complexion, dyspnea, hyperventilation | "Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
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| Polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature in a young girl | McCune-Albright syndrome (mosaic G-protein signaling mutation)
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| Polyuria, acidosis, growth failure, electrolyte imbalances | Fanconi's Syndrome (proximal tubular reabsorption defect)
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| Ptosis, miosis, anhidrosis | Horner's Syndrome (sympathetic chain lesion)
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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/upper respiratory infection) | Guillain-Barre Syndrome (autoimmune acute inflammatory demyelinating polynephropathy)
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| Rash on palms and soles | Secondary syphilis, Rocky Mountain Spotted Fever
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| Recurrent colds, unusual eczema, high serum IgE | Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
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| "Red currant jelly" sputum | Klebsiella pneumoniae
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| Red, itchy, swollen rash of nipple/areola | Paget's Disease of Breast (indictating underlying neoplasm)
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| Red urine in the morning | Paroxysmal noctural hemoglobinuria
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| Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma | von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
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| Resting tremor, rigidity, akinesia, postural instability | Parkinson's disease (nigrostriatal dopamine depletion)
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| Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance | Pompe's Disease (lysosomal glucosidase deficiency)
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| Retinal hemorrhages with pale centers | Roth's spots (bacterial endocarditis)
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| Severe RLQ pain with rebound tenderness | McBurney's sign (appendicitis)
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| Short stature, increased incidence of tumors/leukemia, aplastic anemia | Fanconi's anemia (genetically inherited; 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 defect affecting cilia)
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| Skin hyperpigmentation | Addison's Disease (primary adrenocortical insufficiency of autoimmune or infectious etiology)
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| Slow, progressive muscle weakness in boys | Becker's Muscular Dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)
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| Small, irregular red spots on buccal/lingual mucosa with blue-white centers | Koplik spots (measles)
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| Small, nontender, erythematous lesions on palms/soles | Janeway lesions (infective endocarditis)
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| Smooth, flat, moist white lesions on genitals | Condylomata lata (secondary syphilis)
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| Splinter hemorrhages in fingernails | Bacterial endocarditis
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| "Strawberry tongue" | Scarlet Fever, Kawasaki disease, toxic shock syndrome
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| Streak ovaries, congenital heart disease, horseshoe kidney | Turner's Syndrome (XO, short stature, webbed neck, lymphedema)
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| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperurecimia)
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| Systolic ejection murmur (crescendo-decrescendo) | Aortic valve stenosis
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| Swollen gums, mucous bleeding, poor wound healing, spots on skin | Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
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| Swollen, hard, painful finger joints | Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
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| Thyroid, parathyroid, adrenal tumors | Sipple's Syndrome (MEN 2A)
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| Ulcerated genital lesion with exudate (painful) | Chancroid (Haemophilus ducreyi)
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| Unilateral facial drooping | Bell's palsy (LMN CNVII palsy)
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| Urethritis, conjunctivitis, arthritis in a male | Reiter's Syndrome (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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| Vasculitis from exposure to endotoxin causing glomerular thrombosis | Shwartzman reaction (following second exposure to endotoxin)
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| Vomiting blood following esophagogastric lacerations | Mallory-Weiss Syndrome (alcoholics and eating disorders)
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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 headache of my life" | Berry aneurysm (associated with polycystic kidney disease)
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| Child uses arms to stand up from squat | Gower's sign (Duchenne muscular dystrophy: X-linked recesssive deleted dystrophin gene)
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| Conjugate lateral gaze palsy, horizontal diplopia | Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
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| Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
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| Lucid interval after traumatic brain injury | Epidural hematoma
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| Positive anterior "drawer sign" | ACL injury
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| Severe jaundice in neonate | Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
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