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

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