First Aid Rapid Review - Classic Presentations

mlinnie's version from 2018-11-09 22:00

Clinical presentations

Question Answer
Abdominal pain, ascites, hepatomegalyBudd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthomaFamilial hypercholesterolemia ( ↓ LDL receptor signaling)
Adrenal hemorrhage, hypotension, DICWaterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible jointsMarfan's syndrome (fibrillin defect)
Athlete with polycythemiaErythropoietin (EPO) injection
Back pain, fever, night sweats, weight lossPott's disease (vertebral tuberculosis)
Bilateral hilar adenopathy, uveitisSarcoidosis (noncaseating granulomas)
Blue scleraOsteogenesis imperfecta (congenital type I collagen defect)
Bluish line on gingivaBurton's line (lead poisoning)
Bone pain, bone enlargement, arthritisPaget's disease of bone ( ↑ osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbingAortic regurg
"Butterfly" facial rash and Raynaud's phenomenon in a young femaleSLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious pubertyMcCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophyMuscular dystrophy (commonly Duchenne): X-linked recessive deletion of deletion of dystrophin gene
"Cherry-red spot" on maculaTay-Sachs (LSD: ganglioside accumulation) or Niemann-Pick (LSD: sphingomyelin accumulation, central retinal artery occlusion)
Chest pain on exertionAngina (stable: moderate exertion; unstable: minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MIDressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks after acute episode)
Child uses arms to stand up from squatGowers' sign (Duchenne muscular dystrophy)
Child w/ fever develops red rash on face that spreads to body"Slapped cheeks" (erythema infectiosum/fifth disease; parvovirus B19)
Chorea, dementia, caudate degenerationHuntington's disease (auto dom CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuriaMcArdle's disease; GSD V (muscle glycogen phosphorylase deficiency)
Cold intoleranceHypothyroidism
Conjugate lateral gaze palsy, horizontal diplopiaInternuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous "machinery" heart murmurPDA (close w/ indomethacin; open w/ misoprostol)


Question Answer
Cutaneous/dermal edema due to connective tissue depositionMyxedema (caused by hypothyroidism, Graves'disease [periorbital, pretibial])
Dark purple skin/mouth nodulesKaposi's sarcoma (usually AIDS pxn [gay men]: associated w HHV-8)
Dermatitis, dementia, diarrheaPellagra (niacin [B3] def)
Dilated cardiomyopathy, edema, polyneuropathyWet beriberi (thiamine [B1] def)
Dog or cat bite resulting in infection'Pasteurella multocida' (cellulitis at inoculation site); 'Bartonella henselae' (cat scratch fever)
Dry eyes, dry mouth, arthritisSjogren's syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemiaPlummer-Vinson syndrome (may progress to esophageal SCC)
Elastic skin, hypermobility of jointsEhlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular nodeVirchow's node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cellscutaneous T cell lymphoma (NHL): mycosis fungoides, Sézary syndrome
Facial muscle spasm upon tappingChvostek's sign (hypocalcemia)
Fat, female, forty, fertileacute cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic tx for syphilisJarisch-Herxheimer rxn (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rashMeasles (Morbillivirus, paramyxovirus); "3 C's" = cough, coryza, conjunctivitis
Fever, night sweats, weight lossB symptoms (lymphoma); TB
Fibrous plaques in soft tissue of penisPeyronie's disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boyLesch-Nyhan syndrome (HGPRT def, X-linked recessive) "juvenile gout"
Green-yellow rings around peripheral corneaKayser-Fleischer rings (copper accumulation from Wilson's disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/handsPeutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; ↑ cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptomsGaucher's disease (glucocerebrosidase def; type of glucosylceramidase LSD, lipid accumulates in WBCs)
Hereditary nephritis, sensorineural hearing loss, cataractsAlport syndrome (mutation in α5 chain of collagen IV)
Hypercoagulability (leading to migrating DVTs and vasculitis)Trousseau's syndrome (adenocarcinoma of pancreas or lung)
Hyperphagia, hypersexuality, hyperorality, hyperdocilityKlüver-Bucy syndrome (bilateral amygdala lesions)
Hyperreflexia, hypertonia, positive/extensor Babinski signUMN damage (corticospinal tract)
Hypertension, hypokalemia, metabolic alkalosisConn's syndrome (adrenal adenoma causing primary hyperaldosteronism)
Hyporeflexia, hypotonia, atrophyLMN damage
Hypoxemia/cyanosis, polycythemia, hypercapnia"Blue bloater" (COPD chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion, painlesschancre (primary syphilis, Treponema pallidum)
Indurated, ulcerated genital lesion, painfulchancroid (Haemophilus ducreyi)


Question Answer
Infant w/ failure to thrive, hepatosplenomegaly, neurodegenerationNiemann-Pick disease (LSD: genetic sphingomyelinase deficiency)
Infant w/ hypoglycemia, failure to thrive, and hepatomegalyCori's disease (GSD type III: debranching enzyme def)
Infant w/ microcephaly, rocker-bottom feet, clenched hands, and structural heart defectEdwards' syndrome (trisomy 18)
Keratin pearls on a skin biopsySCC
Large rash w/ bull's-eye appearanceErythema chronicum migrans from Ixodes tick (Lyme disease: Ixodes tick, Borrelia burgdorferi)
Lucid interval after traumatic brain injuryepidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cellsBruton's disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding timeGlanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teethGardner's syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerancePompe's disease (GSD type II/LSD: hereditary AR lysosomal α-1,4-glucosidase [acid maltase] def)
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritisWegener's (+ PR3/c-ANCA); Goodpasture's syndromes (anti-GBM [collagen typeI V-a3] IgG) [ddx:Wegener's > look for epitaxis, sinusitus, nasal involvement in pres.]
Neonate w/ arm paralysis following difficult birthErb-Duchenne palsy (superior trunk [C5,6] brachial plexus injury: "waiter's tip")
No lactation postpartum, absent menstruation, cold intoleranceSheehan's syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegiamultiple sclerosis
Oscillating slow/fast breathingCheyne-Stokes respirations (central apnea in CHF or ↑ ICP)
Painful blue fingers/toes, hemolytic anemiaCold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
Painful, pale, cold fingers/toesRaynaud's syndrome (vasospasm in extremities)
Painful, raised red lesions on palms and solesOsler's node (infective endocarditis)
Painless erythematous lesions on palms and solesJaneway lesions (infective endocarditis)
Painless jaundiceCancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain/arthritis, abdominal pain (child, often following pharyngitis)Henoch-Schonlein purpura (IgA complex [typeIII] vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumorsMEN I (auto dom)
Pink complexion, dyspnea, hyperventilation"Pink puffer" (COPD emphysema: centroacinar [smoking], panacinar [α1-antitrypsin deficiency])
Polyuria, acidosis, growth failure, electrolyte imbalancesFanconi's syndrome (proximal tubular reabsorption defect)
+ anterior "drawer sign"ACL injury
Ptosis, miosis, anhidrosisHorner's syndrome (sympathetic chain lesion)


Question Answer
Pupil accommodates but doesn't reactArgyll-Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)Guillain–Barré syndrome (autoimmune acute inflammatory demyelinating polyneuropathy); usually following Campylobacter jejuni infection
Rash on palms and solesCoxsackie A [hand foot mouth disease], secondary syphilis, Rocky Mountain spotted fever [Dermacentor tick; Rickettsia rickettsii]
Recurrent colds, unusual eczema, high serum IgEhyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis abnormality)
Red "currant jelly" sputum in alcoholic or diabetic pxnKlebsiella pneumoniae
Red, itchy, swollen rash of nipple/areolaPaget's disease of the breast (represents underlying neoplasm)
Red urine in the morning, fragile RBCs, thrombosisparoxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas (cerebellar, retinal), angiomatosis, pheochromocytomavon Hippel-Lindau disease (auto dom tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instabilityParkinson's disease (nigrostriatal dopamine depletion)
Retinal hemorrhages with pale centersRoth's spots (bacterial endocarditis)
Severe jaundice in neonateCrigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain w/ rebound tendernessMcBurney's sign (appendicitis)
Short stature, ↑ incidence of tumors/leukemia, aplastic anemiaFanconi's anemia (genetic loss of DNA crosslink repair, often progresses to AML)
Single palm creaseSimian crease (Down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis, infertilityKartagener's syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentationAddison's disease (primary adrenocortical insufficiency causes ↑ ACTH and α-MSH production)
Slow, progressive muscle weakness in boysBecker's muscular dystrophy (X-link recessive missense mutation in dystrophin; less severe than Duchenne's)
Small, irregular red spots on buccal/lingual mucosa with blue-white centersKoplik spots (measles; rubeola virus)
Smooth, flat, moist white lesions on genitalscondyloma lata (secondary syphilis)
Splinter hemorrhages in fingernailsbacterial endocarditis
"Strawberry tongue"Scarlet fever, toxic shock syndrome, Kawasaki disease
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birthTurner syndrome (45XO, short stature, webbed neck, lymphedema)
Sudden swollen/painful big toe joint, tophipodagra (gout: hyperuricemia)
Swollen gums, mucous bleeding, poor wound healing, spots on skinscurvy (Vit C def: can't hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger jointsosteoarthritis (osteophytes on PIP [Bouchard's nodes; 'Pep Boys']; DIP [Herbeden's nodes])
Systolic ejection murmur (crescendo-decrescendo)Ao stenosis
Thyroid & parathyroid tumors, pheochromocytomaMEN 2A (auto dom ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis (oral/intestinal)MEN 2B (auto dom ret mutation)
Toe extension/fanning upon plantar scrapeBabinski sign (UMN lesion)
Unilateral facial drooping involving foreheadBell's palsy (LMN CN VII palsy)
Urethritis, conjunctivitis, arthritis in a maleReiter's/reactive arthritis associated with HLA-B27, cross reactivity rxn to infection
Vascular birthmark (port-wine stain)Hemangioma (benign, but associated with Sturge-Weber syndrome)
Vomiting blood following esophagogastric lacerationsMallory-Weiss syndrome (alcoholic/bulimic pxn)
"Waxy" casts w/ very low urine flowchronic end-stage renal disease
WBC casts in urineacute pyelonephritis
Weight loss, diarrhea, arthritis, fever, adenopathyWhipple's disease (Tropheryma whippelii, GI malabsorption)
"Worst headache of my life"Subarachnoid hemorrhage