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Abdominal pain, ascites, hepatomegaly
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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Athlete with polycythemia
Erythropoietin injection
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Back pain, fever, night sweats, weight loss
Pott's disease (vertebral tuberculosis)
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Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
-
Blue sclera
Osteogenesis imperfecta (collagen defect)
-
Bluish line on gingiva
Burton's line (lead poisoning)
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Bone pain, bone enlargement, arthritis
Paget's disease of bone (increased osteoblastic and osteoclastic activity)
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Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
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Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
McCune-Albright syndrome (mosaic G-protien signaling mutation)
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Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
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Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne's)
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"Cherry-red spot" on macula
Tay-Sachs (ganglioside accumulation) of Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
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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 weeks after acute episode)
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Child uses arm to stand up from squat
Grower's sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
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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
-
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
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Continuous "machinery" heart 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 AIDS patients [gay men]: associated with HHV-8)
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Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
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Dermatitis, dimentia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
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Dilated cariomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [vitamin B1] deficiency
-
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
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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, usually type III)
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Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
-
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 and fertile
Acute choleocystitis (bile duct blockage)
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Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer 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-Nyham syndrome (HGPRT deficiency, X-linked recessive)
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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, increase cancer risk)
-
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
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Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (type IV collagen mutation)
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Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
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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 (1° 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 (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
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Insomnia, irritability, occasional tachycardia, periods of intense focus and/or mania followed by periods of depression
STEP study
-
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
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Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
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Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (trisomy 18)
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Jaundice, RUQ pain, fever
Charcot's triad 2 (ascending cholangitis)
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Keratin pearls on skin biopsy
Squamous cell carcinoma
-
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
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Lucid interval after traumatic brain injury
Epidural hematoma (middle menigeal 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 and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of Gpllb/llla)
-
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (subtype of FAP)
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Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
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Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
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No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome (pituitary infarction)
-
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
-
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
-
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infections mononucleosis)
-
Painful pale cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
-
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
-
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
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Painless jaundice
Cancer of the pancreatic head obstructing bilde duct
-
Palpable purpura, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
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Pancreatic, pituitary, parathyroid tumors
Wermer's syndrome (MEN 1)
-
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centroacinar [smoking], panacinar [α1-antitrypsin deficiency])
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Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
-
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
-
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
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Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
-
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
-
Rash on palms and soles
2° syphilis, Rocky Mountain spotted fever
-
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
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Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
-
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
-
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
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Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
-
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
-
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
Pompe's disease (lysosomal glucosidase deficiency)
-
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
-
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
-
Severe RLQ pain with rebound tenderness
McBurney's sign (appendicitis)
-
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetically inherited; often progresses to AML)
-
Single palm crease
Simian crease (Down syndrome)
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Situs inversus, chronic sinusitis, bronchiectasis
Kartagener's syndrome (dynein defect affecting cilia)
-
Skin hyperpigmentation
Addison's disease (1° adrenocortical insufficiency of autoimmune or infectious etiology)
-
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's)
-
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles)
-
Smooth, flat, moist white lesions on genitals
Condylomata lata (2° syphilis)
-
Splinter hemorrhages in fingernails
Bacterial endocarditis
-
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
-
Streak ovaries, congenital heart disease, horseshoe kidney
Turner syndrome (XO, short stature, webbed neck, lymphedema)
-
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
-
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
-
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
-
Systolic ejection murmur (crescendo-decresendo)
Aortic valve stenosis
-
Thyroid and parathyroid tumors, pheochromocytoma
Sipple's syndrome (MEN 2A)
-
Toe extension/fanning upon plantar scrape
Babinski's sign (UMN lesion)
-
Unilateral facial drooping involving forehead
Bell's palsy (LMV CN VII palsy)
-
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (reactive arthritis associated with HLA-B27)
-
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
-
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Mallory-Weiss syndrome (alcoholic and bulimic patients)
-
"Waxy" casts with very low urine flow
Chronic end-stage renal disease
-
WBC casts in urine
Acute pyelonephritis
-
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
-
"Worst headache of my life"
Subarachnoid hemorrhage
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