Abdominal pain, ascites hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Anterior “drawer sign” positive
Anterior cruciate ligament injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
secondary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott disease (vertebral TB)
Bilateral hilar adenopathy, iveitis
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 (increased 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 (SLE)
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (plus pheochromocytoma, optic gliomas)
Cafe-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)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
Kaposi-like lesions in an AIDS patient, but not
Bacillary angiomatosis (Bartonella heneslea, use silver stain to detect, treat with sulfa drugs or erythromycin)
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 [vitamine B1] deficiency
Dog or cat bite resulting in infection
Pasteurella multocida (cellutlitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren 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 Sezary 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)
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 Wilsons disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-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)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful, with exudate: chandroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patua 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-phosphate 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 alpha-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 infaction)
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 pneumonia, infectious mononucleosis)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis)
Painful, pale, cold fingers/toes
Raynoud 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-Schonlein 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 [alpha1-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-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Single palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
Addison disease (primary adrenocortical insuficiency causes increased ACTH and increased alpha-MSH production)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Small, irregular red spots in buccal/lingual mucosa with blue-white cneters
Koplik spots (measles; rubeola virus)
Smooth, flat, moist, painless 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, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
Facial Nerve (LMN CN VII palsy)
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage
