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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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back pain, fever, night sweats, weight loss
Pott's disease (vertebral tuberculosis)
-
Big toe extension/fanning upon plantar scrape
Babinski's sing (UMN lesion)
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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 ( increase osteoblastic & osteoclastic activity)
-
Cafe-au-lauit spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I
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cafe-au-lait spots, Lisch nodules, bilateral acoustic neuromas
Neurofibromatosis Type II
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Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne's)
-
"Cherry-red spot" on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease)
-
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
-
Child uses arms to stand up from squat
Gowers' 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 opthalmoplegia (damage to MLF; bilater [multiple sclerosis], unilateral [stroke])
-
continous "machinery" heart murmur
PDA (close with indomethacin; open with misoprostol)
-
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, 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
-
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
-
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (collagen defect)
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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
-
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
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Fat, female, forty, and fertile
Acute cholecystitis (bile duct blockage)
-
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)
-
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)
-
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic beign polyposis can cause bowel obstruction; increase cancer risk)
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Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
-
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (collagen mutation)
-
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
-
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
-
Hypertension, hypokalemia, metabolic acidosis
Conn's syndrome ( primary hyperaldosteronism)
-
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
-
Indurated, ulcerated genital lesion (nonpainful)
Chancre (treponema pallidum)
-
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
-
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
-
Infant with microcephaly, rocker-bottom feet, and structural heart defect
Edward's syndrome (Trisomy 18)
-
Jaundice, RUQ pain, fever
Charcot's triad 2 (ascending cholangitis)
-
Keratin pearls on a skin lesion
Squamous cell carcinoma
-
Large rash with bull's-eye appearance
erythema chronicum migrans from tick bite (Lyme disease: Borrelia)
-
Lucid interval after traumatic brain injury
Epidural hematoma
-
male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
-
mucusoal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
-
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardener's syndrome (genetic disorder, predisposes to colon cancer)
-
necrotizing vasculitis (lungs0 and necrotizing glomerulonephritis
Wegener's and Goodpastures's syndromes (hemoptysis and glomerular disease)
-
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 infaction)
-
nystagmus, intention tremor, scanning speech
Charcot's triad 1 (multiple sclerosis)
-
Oscillating slow/fast breathing
Cheyne-stokes respirations (central apnea in CHF or increase intracranial pressure)
-
Painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
-
Painful, pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremitites)
-
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
-
painless jaundice
Cancer of the pancreatic head obstructing bile duct
-
palpable purpura, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitits affecting skin and kidneys)
-
Pancreatic, pituitary, parathyroid tumors
Wermer's syndrome (MEN 1)
-
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
-
Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl
McCune-Albright syndrome (mosaic G-protein signaling mutation)
-
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)
-
Pupil accommodates but don'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 paslms and soles
Secondary syphilis, Rocky Moutain spotted fever
-
recurrent colds, unusual eczema, high serum IgE
Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
-
Red "currant jelly" sputum
klebsiella pneumoniae
-
red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
-
Red urine in the morning
paroxysmal nocturnal hemoglobinuria
-
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, increase incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia (genetically inherited; often progesses to AML)
-
Single palm crease
Simian crease (Down's syndrome)
-
Situs inversus, chronic sinusistis, bronchiectasis
Kartagener's syndrome (dynein defect affecting cilia)
-
Skin hyperpigmentation
Addison's disease (primary 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)
-
Small, nontender, erythematous lesions on palms/soles
Janeway lesions (infective endocarditis)
-
smooth, flat, moist white lesions on genitals
Condylomata lata (secondary syphilis)
-
Splinter hemorrhages in fingernails
Bacterial endocarditis
-
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
-
Streak ovaries, congenital heart disease, horseshoe kidney
Turner's 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-decrescendo)
aortic valve stenosis
-
thyroid, parathyroid, adrenal tumors
Sipple's syndrome (MEN 2A)
-
Ulcerated genital lesion with exudate (painful)
Chancroid (Haemophilus ducreyi)
-
Unilateral facial drooping
Bell's palsy (LMN CN VII palsy)
-
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (reactive arthritis associated with HLA-B27)
-
Vascular birthmark (port-win stain)
Hemangioma (benign, but associated with Sturge-weber syndrome)
-
Vasculitis from exposure to endotoxin
Shwartzman reaction (following second exposure to endotoxin)
-
vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholics and eating disorders)
-
"Waxy" casts with very low urine flow
Chronic end-stage renal disease
-
WBC casts in urine
Acute pyelonephritis or cystitis
-
Weight loss, diarrhea, arthritis, fever, adenopathy
Whippel's disease (Tropheryma whippelii)
-
"Worst headache of my life"
Berry aneurysm (associated with adult polycystic kidney disease)
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