Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia ( LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection,
hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
2° to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott disease (vertebral TB)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone ( osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
Café-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic
gliomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious
puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling
mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick
(sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with
minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever
following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1–12 weeks after acute episode)
Child uses arms to stand up from squat
Gowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks” (erythema infectiosum/fifth disease:
parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful
cramps, myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machine-like” heart murmur
PDA (close with indomethacin; open or maintain with
misoprostol)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine
glands)
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 (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly,
atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic
treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease
[pretibial])
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked
recessive)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson
disease)
Hamartomatous GI polyps, hyperpigmentation of
mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can
cause bowel obstruction; cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic
symptoms
Gaucher disease (glucocerebrosidase deficiency)
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Hereditary nephritis, sensorineural hearing loss,
cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality,
hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
“Blue bloater” (chronic bronchitis: hyperplasia of mucous
cells)
Infant with cleft lip/palate, microcephaly or
holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, and
neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Infant with microcephaly, rocker-bottom feet, clenched
hands, and structural heart defect
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme
disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth
Gardner syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise
intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus
injury: “waiter’s tip”)
No lactation postpartum, absent menstruation, cold
intolerance
Sheehan 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
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 phenomenon (vasospasm in extremities)
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and
kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria,
hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink puffer” (emphysema: centriacinar [smoking], panacinar
[α1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure,
electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
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
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute autoimmune inflammatory
demyelinating polyneuropathy)
Single palmar crease
Down syndrome
Short stature, incidence of tumors/leukemia, aplastic
anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated
hyperbilirubinemia)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
Renal cell carcinoma (bilateral), hemangioblastomas,
angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (infants)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Recurrent colds, unusual eczema, high serum
IgE Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
“Worst headache of my life”
Subarachnoid hemorrhage
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27 (Reiter’s syndrome)
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
Skin hyperpigmentation, hypotension, fatigue
Addison disease (1° adrenocortical insufficiency causes ACTH and α-MSH production)
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP
[Heberden nodes])
Swollen gums, mucosal bleeding, poor wound healing,
petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
“Strawberry tongue”
Scarlet fever, Kawasaki disease, toxic shock syndrome
Splinter hemorrhages in fingernails
Bacterial endocarditis
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2° syphilis)
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)
Anticentromere antibodies
Scleroderma (CREST)
Antidesmoglein (epithelial) antibodies
Pemphigus vulgaris (blistering)
Basophilic nuclear remnants in RBCs
Howell-Jolly bodies (due to splenectomy or nonfunctional
spleen)
“Bamboo spine” on x-ray
Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27)
Bacitracin response
Sensitive: Streptococcus pyogenes (group A); resistant: Streptococcus agalactiae (group B)
Anti–glomerular basement membrane antibodies
Goodpasture syndrome (glomerulonephritis and hemoptysis)
Azurophilic peroxidase granular inclusions in granulocytes and myeloblasts
Auer rods (AML, especially the promyelocytic [M3] type)
“Apple core” lesion on abdominal x-ray
Colorectal cancer (usually left-sided)
Anti-IgG antibodies
Rheumatoid arthritis (systemic inflammation, joint pannus, boutonnière deformity)
Antihistone antibodies
Drug-induced SLE (hydralazine, INH, phenytoin,
procainamide)
Antimitochondrial antibodies (AMAs)
1° biliary cirrhosis (female, cholestasis, portal hypertension)
Antineutrophil cytoplasmic antibodies (ANCAs)
Microscopic polyangiitis and Churg-Strauss syndrome
(MPO-ANCA/p-ANCA); granulomatosis with polyangiitis
(Wegener; PR3-ANCA/c-ANCA)
Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA)
SLE (type III hypersensitivity)
Anti-transglutaminase/anti-gliadin/anti-endomysial
antibodies
Celiac disease (diarrhea, distention, weight loss)
Antiplatelet antibodies
Idiopathic thrombocytopenic purpura
Anti-topoisomerase antibodies
Diffuse systemic scleroderma
Basophilic stippling of RBCs
Lead poisoning or sideroblastic anemia
Bloody tap on LP
Subarachnoid hemorrhage
“Boot-shaped” heart on x-ray
Tetralogy of Fallot, RVH
Branching gram-positive rods with sulfur granules
Actinomyces israelii
Disarrayed granulosa cells in eosinophilic fluid
Call-Exner bodies (granulosa-theca cell tumor of the ovary)
Desquamated epithelium casts in sputum
Curschmann spirals (bronchial asthma; can result in whorled mucous plugs)
Bronchogenic apical lung tumor on imaging
Pancoast tumor (can compress sympathetic ganglion and cause Horner syndrome)
Depigmentation of neurons in substantia nigra
Parkinson disease (basal ganglia disorder: rigidity, resting tremor, bradykinesia)
“Chocolate cyst” of ovary
Endometriosis (frequently involves both ovaries)
“Brown” tumor of bone
Hyperparathyroidism or osteitis fibrosa cystica (deposited
hemosiderin from hemorrhage gives brown color)
Cardiomegaly with apical atrophy
Chagas disease (Trypanosoma cruzi)
Cellular crescents in Bowman capsule
Rapidly progressive crescentic glomerulonephritis
Circular grouping of dark tumor cells surrounding pale
neurofibrils
Homer-Wright rosettes (neuroblastoma, medulloblastoma,
retinoblastoma)
Colonies of mucoid Pseudomonas in lungs
Cystic fibrosis (autosomal recessive mutation in CFTR gene fat-soluble vitamin deficiency and mucous plugs)
AFP in amniotic fluid/maternal serum
Down syndrome or other chromosomal abnormality
Degeneration of dorsal column nerves
Tabes dorsalis (3° syphilis), subacute combined degeneration (dorsal columns and lateral corticospinal tracts affected)
