USMLE First Aid Rapid Review - Classic Presentations

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Can you name the Classic Presentations of diseases?

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Clinical PresentationDiagnosis, Disease, ConditionCharacteristic Info
Continuous “machinery” heart murmur
Severe jaundice in neonate
Dark purple skin / mouth nodules
Hypercoagulability leading to migrating DVTs and vascultitis
Cutaneous / dermal edema due to connective tissue deposition
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Deep labored breathing / hyperventilation
Polyuria, acidosis, growth failure, electrolyte imbalances
Bounding pulses, diastolic heart murmur, head bobbing
Vascular birthmark (port-wine stain)
Painful, raised red lesions on palms and soles
Urethritis, conjunctivitis, arthritis in a male
Retinal hemorrhages with pale centers
Streak ovaries, congenital heart disease, horseshoe kidney
Red, itchy, swollen rash of nipple areola
Skin hyperpigmentation
Keratin pearls in a skin biopsy
Painful blue fingers toes, hemolytic anemia
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Hyperphagia, hypersexuality, hyperorality, hyperdocility
No lactation postpartum, absent menstruation, cold intolerance
Pink complexion, dyspnea, hyperventilation
Sudden swollen / painful big toe joint, tophi
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Adrenal hemorrhage, hypotension, DIC
Facial muscle spasm upon tapping
Hereditary nephritis, sensorineural hearing loss, cataracts
Ptosis, miosis, anhydrosis
Hypoxemia, polycythemia, hypercapnia
Resting tremor, rigidity, akinesia, postural instability
Blue sclera
Elastic skin, hypermobility of joints
Child with fever develops red rash on face that spread to body
“Worst headache of my life”
Splinter hemorrhages in fingernails
Painful erythematous lesions on palms and soles
Café-au-lait spots, Lisch nodules (iris hamartoma), pheochromocytoma, optic gliomas, bilateral acoustic neuromas
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
Pancreatic, pituitary, parathyroid tumors
Large rash with bull’s-eye appearance
Clinical PresentationDiagnosis, Disease, ConditionCharacteristic Info
Green-yellow rings around peripheral cornea
Thyroid and parathyroid tumors, pheochromocytoma
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis, c-ANCA positive
Systolic ejection murmur (crescendo-decrescendo)
Slow, progressive muscle weakness in boys
Jaundice, RUQ pain, fever
Child uses arms to stand up from squat
Calf pseudohypertrophy
Multiple colon polyps, osteomas / soft tissue tumors, impacted / supernumerary teeth
Chest pain, pericardial effusion / friction rub, persistent fever following MI
Bone pain, bone enlargement, arthritis
Single palm crease
Gout, mental retardation, self-mutilating behavior in boy
Athlete with polycythemia
Café-au-lait spots, Lisch nodules (iris hamartoma), pheochromocytoma, optic gliomas
Achilles tendon xanthoma
Small, irregular red spots on buccal / inguinal mucosa with blue-white centers
Fibrous plaques in soft tissue of penis
Hypertension, hypokalemia, metabolic acidosis
Conjugate lateral gaze palsy, horizontal diplopia
Cold intolerance
Chorea, dementia, caudate degeneration
Red urine in the morning, fragile RBCs
“Strawberry tongue” (Strep. pyogenes)
Short stature, ↑ incidence of tumors / leukemia, aplastic anemia
Back pain, fever, night sweats, weight loss
“Strawberry tongue” (Vasculitis)
Male child, recurrent infections, no mature B cells
Indurated, painful ulcerated genital lesion with exudates
Erytheroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Fever, cough, conjunctivitis, coryza, diffuse rash
Painful, pale, cold fingers / toes
Red “currant jelly” sputum in alcoholic or diabetic patients
Swollen, hard, painful finger joints
Recurrent colds unusual eczema, high serum IgE
Dog or cat bite resulting in infection
Bilateral hilar adenopathy, uveitis
Arachnodactyly, lens discoloration, aortic dissection, hyperflexible joints
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Clinical PresentationDiagnosis, Disease, ConditionCharacteristic Info
Bluish line on gingiva
Unilateral facial dropping invoving forhead
“Strawberry tongue” (Staph. aureus)
“Waxy” casts with very low urine flow
Swollen gums, mucous leeding, poor wound healing, spots on skin
Vomiting blood following esophagogastric lacerations
Neonate with arm paralysis following difficult birth
Smooth, flat, moist white lesions on genitals
Hamartamous GI polyps, hyperpigmentation of mouth / feet / hands
Dermatitis, dementia, diarrhea
Painless jaundice
Palpable purpura, joint pain, abdominal pain (child)
Severe RLQ pain with rebound tenderness
Enlarged, hard left supraclavicular node
Muscoal bleeding and prolonged bleeding time
Dilated cardiomyopathy, edema, polyneuropathy
Oscillating slow/fast breathing
Dry eyes, dry mouth, arthritis
Positive anterior “drawer sign”
Situs inversus, chronic sinusitis, bronchiectasis
Toe extension / fanning upon plantar scrape
Fat, female, forty, and fertile
“Cherry-red spot” on macula (hexosaminidase
Weight loss, diarrhea, arthritis, fever, adenopathy
Lucid interval after traumatic brain injury
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Fever, night sweats, weight loss
WBC casts in urine
Abdominal pain, ascites, hepatomegaly
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
“Cherry-red spot” on macula (vascular)
Rash on palms and soles
Nystagmus, intention tremor, scanning speech, bilateral intranuclear opthalmoplegia
Chronic exercise intolerance with myalgia, fatigue, painful cramps
“Cherry-red spot” on macula (sphingomyelinase)
Pupil accommodates but doesn’t react
Indurated, non-painful ulcerated genital lesion
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis, anti-basement membrane antibodies
Rash on palms and soles

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