| Acute Appendicitis | Rovsing sign (acute appendicitis): Severe RLQ pain with palpation of LLQ
McBurney sign (acute appendicitis): Severe RLQ pain with deep tenderness |
| Acute mesenteric ischemia (adults), intussusception (children) | Red “currant jelly” stools |
| AML | Auer rods (AML, especially the promyelocytic [M3] type): Azurophilic peroxidase (+) granular inclusions in granulocytes and myeloblasts |
| Adrenocortical Insufficiency | 1º adrenocortical insufficiency (ed, Addison disease) causes ↑ ACTH and ↑ α-MSH production): Skin hyperpigmentation, hypotension, fatigue |
| Alport syndrome (mutation in collagen IV) | Hereditary nephritis, sensorineural hearing loss, cataracts |
| Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27) | “Bamboo spine” on x-ray |
| Antineutrophil cytoplasmic antibodies (ANCAs) | Microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome) (MPO-ANCA/p-ANCA); granulomatosis with polyangiitis (Wegener; PR3-ANCA/c-ANCA) |
| Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest) | Chest pain on exertion |
| Anterior cruciate ligament (ACL) injury | Anterior “drawer sign” + |
| Aortic regurgitation | Bounding pulses, widening pulse pressure, diastolic heart murmur, head bobbing |
| Aortic stenosis | Systolic ejection murmur (crescendo-decrescendo) |
| Athlete with polycythemia | Secondary to erythropoietin injection (blood doping) |
| Bacterial Endocarditis | Roth spots (bacterial endocarditis): Retinal hemorrhages with pale centers
Splinter hemorrhages in fingernails |
| Biliary Cirrhosis | 1º biliary cirrhosis (female, cholestasis, portal hypertension); also associated with pruritis and Sjögren syndrome: Antimitochondrial antibodies (AMAs) |
| Bronchitis | Chronic bronchitis (hyperplasia of mucous cells, “blue bloaters”): Hypoxemia, polycythemia, hypercapnia |
| Bruton disease (X-linked agammaglobulinemia) | Male child, recurrent infections, no mature B cells |
| Cancer of the pancreatic head obstructing bile duct | Painless jaundice |
| Carcinoid syndrome (right-sided cardiac valvular lesions, ^ 5-HIAA) | Cutaneous flushing, diarrhea, bronchospasm |
| Cardiac Tamponade | Beck triad: Muffled heart sounds, distended neck veins, hypotension |
| Celiac disease (diarrhea, weight loss) | Anti-transglutaminase/anti-gliadin/anti-endomysial antibodies |
| Cholelithiasis (gallstones) | Fat, female, forty, and fertile |
| Chvostek sign (hypocalcemia) | Facial muscle spasm upon tapping |
| Clostridium difficile infection (can create pseudomembrane) | Abd pain, diarrhea, leukocytosis, recent antibiotic use |
| Cold agglutination disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL) | Painful blue fingers/toes, hemolytic anemia |
| Colorectal cancer (usually left-sided) | “Apple core” lesion on barium enema x-ray |
| Courvoisier sign (distal malignant obstruction of biliary tree) | Jaundice, palpable distended non-tender gallbladder |
| Coxsackie A, 2º syphilis, Rocky Mountain spotted fever | Rash on palms and soles |
| Diabetic ketoacidosis (Kussmaul respirations) | Deep, labored breathing/hyperventilation |
| Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode) | Chest pain, pericardial effusion/fricton rub, persistent fever following MI |
| EBV | Atypical lymphocytes |
| Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect is seen in the vascular subtype of ED) | Elastic skin, hypermobility of joints, inc bleeding tendency |
| Emphysema (“pink puffer”, centriacinar [smoking] or panacinar [α1-antitrypsin deficiency]) | Pink complexion, dyspnea, hyperventilation |
| Epidural hematoma (middle meningeal artery rupture) | Lucid interval after traumatic brain injury |
| Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia) Tx: doxycylcine | Large rash with bulls-eye appearance |
| Facial Nerve Palsy | LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead: Unilateral facial drooping involving forehead |
| Familial hypercholesterolemia (decreased LDL receptor signaling) | Achilles tendon xanthoma |
| Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML) | Short stature, café au lait spots, thumb/radial defects, ↑ incidence of tumors/leukemia, aplastic anemia |
| Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule) | Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets |
| Gardner syndrome (subtype of FAP) | Multiple colon polyps, osteoma/soft tissue tumors, impacted/supernumerary teeth |
| Gaucher disease (glucocerebrosidase deficiency) | Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises |
| Genital lesion (Indurated, ulcerated) | Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi) |
| Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa | Mucosal bleeding and prolonged bleeding time |
| Goodpasture syndrome (glomerulonephritis and hemoptysis) | Anti-glomerular basement membrane antibodies |
| Gout/podagra (hyperuricemia) | Sudden swollen/painful big toe joint, tophi |
| Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype) | Rapidly progressive limb weakness that ascends following GI/upper respiratory infection |
| Hearing Loss | Sensorineural hearing loss:
Normal Rinne Test (air > bone)
Weber Test localizes to unaffected ear
Conductive hearing loss:
Abnormal Rinne Test (bone > air)
Weber Test localizes to affected ear |
| Horner syndrome (sympathetic chain lesion) | Ptosis, miosis, anhidrosis |
| Huntington disease (autosomal dominant CAG repeat expansion) | Chorea, dementia, caudate degeneration |
| Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality) | Recurrent cold (non-inflammed) abscesses, unusual eczema, high serum IgE |
| Hypothyroidism | Cold intolerance |
| Idiopathic thrombocytopenic purpura | Antiplatelet antibodies |
| IgA deficiency | Anaphylaxis following blood transfusion |
| Increased AFP in amniotic fluid/maternal serum | Dating error, anenchephaly, spina bifida (neural tube defects) |
| Infective Endocarditis | Janeway lesions (infective endocarditis, septic emboli/microabscesses): Painless erythematous lesions on palms and soles
Osler nodes (infective endocarditis, immune complex deposition): Painful, raised red lesions on pads of fingers/toes |
| Internuclear ophthalmoplegia (damage to MLF, may be unilateral or bilateral) | Conjugate horizontal gaze palsy, horizontal diplopia |
| Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release) | Fever, chills, headache, myalgia following antibiotic treatment for syphilis |
| Kaposi sarcoma, associated with HHV-8 | Dark purple skin/mouth nodules in a patient with AIDS |
| Kartagener syndrome (dynein arm defect affecting cilia) | Situs Inversus, chronic sinusitis, bronchiectasis, infertility |
| Klebsiella pneumoniae pneumonia | Red “currant jelly” sputum in alcoholic or diabetic patients |
| Klüver-Bucy syndrome (bilateral amygdala lesion) | Hyperphagia, hypersexuality, hyperorality, hyperdocility |
| Lead Poisoning | Burton line (lead poisoning) – Bluish line on gingiva |
| Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) | Gout, intellectual disability, self-mutilating behavior in a boy |
| Lichen planus | Pruritic, purple, polygonal planar papules and plaques (6 P’s) |
| Lymphoma | B symptoms (staging) of lymphoma: Fever, night sweats, weight loss |
| Mallory-Weiss syndrome (alcoholic and bulimic patients) | Vomiting blood following gastroesophageal lacerations |
| Marfan syndrome (fibrillin defect) | Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints |
| McArdle disease (skeletal muscle gylcogen phosphorylase deficiency) | Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria |
| McCune-Albright syndrome (Gs protein activating mutation) | Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities |
| MEN 1 (autosomal dominant) | Pancreatic, pituitary, parathyroid tumors |
| MEN 2A (autosomal dominant RET mutation) | Thyroid and parathyroid tumors, pheochromocytoma |
| MEN 2B (autosomal dominant RET mutation) | Thyroid tumors, pheochromocytoma, ganglioneuromatosis |
| Meniere disease | Episodic vertigo, tinnitus, hearing loss |
| Mucor or Rhizopus fungal infection | Black eschar on face of patient with diabetic ketoacidosis |
| Multiple sclerosis | Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia |
| Muscular dystrophy (most commonly Duchenne due to X-linked recessive frameshift mutation of dystrophin gene) | Calf pseudohypertrophy |
| Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood) | Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells |
| Myxedema (caused by hypothyroidism, Graves disease [pretibial]) | Cutaneous/dermal edema due to connective tissue deposition |
| Nephrotic syndrome | Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia |
| Neuro damage | UMN damage: Hyperreflexia, hypertonia, Babinski sign present (Toe extension/fanning upon plantar scrape)
LMN damage: Hyporeflexia, hypotonia, atrophy, fasciculations |
| Neurofibromatosis type I (AD inheritance) | Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas |
| Neurofibromatosis type 2 | Bilateral acoustic schwannomas |
| Neurosyphilis (Argyll Robertson pupil) | Pupil accommodates but doesn’t react |
| Osler-Weber-Rendu syndrome | Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria |
| Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes]) | Swollen, hard, painful finger joints |
| Osteogenesis imperfecta (type I collagen defect) | Blue sclera |
| Paget disease of the breast (sign of underlying neoplasm) | Red, itchy, swollen rash of nipple/areola |
| Paget disease of bone (increased osteoblastic and osteoclastic activity) | Bone pain, bone enlargement, arthritis |
| Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta) | Resting tremor, rigidity, akinesia, postural instability, shuffling gait |
| Paroxysmal nocturnal hemoglobinuria | Red urine in the morning, fragile RBCs |
| Pasteurella multocida (cellulitis at inoculation site) | Dog or cat bite resulting in infection |
| Pellagra (niacin B3 deficiency) | Dermatitis, dementia, diarrhea |
| Pemphigus vulgaris (blistering) | Anti-desmoglein (anti-desmosome) antibodies |
| Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, ^ cancer risk, mainly GI) | Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia |
| Peyronie disease (connective tissue disorder) | Fibrous plaques in soft tissue of penis with abnormal curvature |
| Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) | Dysphagia (esophageal webs), glossitis, iron deficiency anemia |
| Pott disease (vertebral TB) | Back pain, fever, night sweats |
| Raynaud phenomenon (vasospasm in extremities) | Painful fingers/toes changing color from blue to white to red with cold or stress |
| Reactive arthritis associated with HLA-B27 | Urethritis, conjunctivitis, arthritis in a male |
| Rheumatoid arthritis (systemic inflammation, joint pannus, boutonniére deformity) | Anti-IgG antibodies |
| Sarcoidosis (noncaseating granulomas) | Bilateral hilar adenopathy, uveitis |
| Scarlet fever | “Strawberry tongue” |
| Scleroderma | CREST: Anticentromere antibodies
Diffuse systemic scleroderma: Anti-topoisomerase antibodies |
| Scurvy (vit C deficiency; can’t hydroxylate proline/lysine for collagen synthesis) | Swollen gums, mucosal bleeding, poor wound healing, petechiae |
| Sheehan syndrome (pituitary infarction) | No lactation postpartum, absent menstruation, cold intolerance |
| Sjogren syndrome (autoimmune destruction or exocrine glands) | Dry eyes, dry mouth, arthritis |
| Subarachnoid hemorrhage | “Worst headache of my life” |
| Syphilis | Condylomata lata (2º syphilis): Smooth, moist, painless, wart-like white lesions on genitals |
Systemic lupus erythematosus
SLE (type III hypersensitivity) | “Butterfly” facial rash and Raynaud phenomenon in a young female
Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA)
Drug-induced SLE (eg, hydralazine, isoniazid, phenytoin, procainamide): Antihistone anitbodies |
| Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion | “Cherry-red spot” on macula |
| Unstable angina (- troponins) or NSTEMI (+ troponins) | Chest pain with ST depression on EKG |
| Virchow node (abdominal metastasis) | Enlarged, hard left supraclavicular node |
| Vitamin Deficiency | Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis): Swollen gums, mucosal bleeding, poor wound healing, petechiae |
| Von Hippel-Lindau disease (dominant tumor suppressor gene mutation) | Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma |
| Waterhouse-Friderichsen syndrome (meningococcemia) | Adrenal hemorrhage, hypotension, DIC |
| Wet beriberi (thiamine vit B1 deficiency) | Dilated cardiomyopathy, edema, alcoholism or malnutrition |
| Whipple disease (Tropheryma whipplei) | Weight loss, diarrhea, arthritis, fever, adenopathy |
| Wilson disease (Kayser-Fleischer rings due to copper accumulation) | Golden brown rings around peripheral cornea |
