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

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