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

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