Science Quiz / FA USMLE Rapid Review Classic Presentations

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Name the Classic Presentations

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Classic PresentationDisease/DisorderExtra info
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Vitamin deficiency: confusion, ophthalmoplegia, ataxia, personality change
Pancreatic, pituitary, parathyroid tumors
Cerebellar defects, spider angiomas, IgA deficiency
Vomiting blood following gastroesophageal lacerations
Hypertension, hypokalemia, mild hypernatremia, metabolic alkalosis, mass in adrenal gland
Flushing, diarrhea, right-sided heart lesions
Muscle weakness with malar rash, Gottron papules, heliotrope rash, 'shawl and face' rash, 'mechanic's hands'
Retinal hemorrhages with pale centers
Cutaneous/dermal edema due to connective tissue deposition
Painful, raised red lesions on pads of fingers/toes
Red urine in the morning, fragile RBCs
Clotting disorder in a chronic kidney patient
Facial muscle spasm upon tapping
Hyperreflexia, hypertonia, Babinski sign present
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Bluish line on gingiva
Fever, cough, conjunctivitis, coryza, diffuse rash
Vitamin deficiency: convulsions, hyperiritability, peripheral neuropathy, sideroblastic anemia
Chest pain with ST depressions on EKG
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Urethritis, conjunctivitis, arthritis in a male
Mucosal bleeding and prolonged bleeding time
“Strawberry tongue”
Bone pain, bone enlargement, arthritis
“Worst headache of my life”
Atypical pneumonia with hyponatremia
Short stature, café au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Thyroid and parathyroid tumors, pheochromocytoma
Adrenal hemorrhage, hypotension, DIC
Neonate with arm paralysis following difficult birth
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Congenital infection: cataracts, heart defects (PDA)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Vitamin deficiency: macrocytic megaloblastic anemia, hypersegmented PMNs; subacute combined degeneration, parasthesias
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Achilles tendon xanthoma
Hypoxemia, polycythemia, hypercapnia
Pt with HepB, mesenteric ischemia, renal failure, purpura, mononeuritis multiplex
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Deep, labored breathing/hyperventilation
Conjugate horizontal gaze palsy, horizontal diplopia
Red “currant jelly” stools
Staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes, diabetes, hypertrophic cardiomyopathy
Choreoathetoid movements, long-term antipsychotic use
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Fibrous plaques in soft tissue of penis with abnormal curvature
Anaphylaxis following blood transfusion
“Butterly” facial rash and Raynaud phenomenon in a young female
Child uses arms to stand up from squat
Congenital infection: intracerebral calcifications, chorioretinitis
Gout, intellectual disability, self-mutilating behavior in a boy
Painful blue fingers/toes, hemolytic anemia
Vitamin deficiency: cheilosis (inflammation of corners of lips), corneal vascularization
Black eschar on face of patient with diabetic ketoacidosis
Hyporeflexia, hypotonia, atrophy, fasciculations
Lucid interval after traumatic brain injury
Blue sclera, bone injuries
Pain and rash after treatment with Hydralazine, Procainimide, or Methyldopa
Bilateral hilar adenopathy, uveitis
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Unilateral facial drooping involving forehead
Red “currant jelly” sputum in alcoholic or diabetic patients
Vitamin deficiency: macrocytic megaloblastic anemia, hypersegmented neutrophils; glossitis
Dark purple skin/mouth nodules in a patient with AIDS
Dermatitis, dementia, diarrhea
GERD, GI bleeds, tense hand skin, distal vasoconstriction in cold
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Progressive neurodegeneration, hepatosplenomegaly, lipid-laden macrophages, 'cherry-red' spot on macula
Smooth, moist, painless, wart-like white lesions on genitals
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
No lactation postpartum, absent menstruation, cold intolerance
Interstitial lung disease, constrictive pericarditis, renal crisis, calcinosis, raynauds, sclerodactyly, telangiectasias
Infant with hypoglycemia, hepatomegaly
Unrelenting ear pain, purulent drainage in the elderly
Element poisoning: Acute: garlic breath, vomiting, diarrhea, QTc prolongation; Chronic: hypo/hyperpigmentation, hyperkeratosis, stocking-glove neuropathy
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Weight loss, diarrhea, arthritis, fever, adenopathy
Painless erythematous lesions on palms and soles
Male, child, recurrent infections, no mature B-cells
Ambiguous genitalia, lack of sexual development; low sex hormones and cortisol; high mineralocorticoids
Large rash with bull’s-eye appearance
Fever, night sweats, weight loss
Absence of UGT, severe jaundice in neonate, kernicterus
Abdominal pain, ascites, hepatomegaly
Ptosis, miosis, anhidrosis
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Systolic ejection murmur (crescendo-decrescendo)
Vitamin deficiency: diarrhea, dementia, dermatitis; glossitis
Bone pain/fractures, weight loss, renal insufficiency, hypercalcemia
Elastic skin, hypermobility of joints, bleeding tendency
Delayed puberty, anosmia
Early in life: steatorrhea, acanthocytosis of RBCs, Vitamin ADEK deficiency
Back pain, fever, night sweats
Hereditary nephritis, sensorineural hearing loss, cataracts
Thrombocytopenia, eczema, recurrent infections
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Chorea, dementia, caudate degeneration
Green vaginal discharge, 'strawberry cervix'
Congenital infection: periventricular calcifications
Virilization and salt wasting; low mineralocorticoids and cortisol; high sex hormones
Dry eyes, dry mouth, parotid swelling, arthritis
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheocromocytoma
Painful fingers/toes changing color from blue to white to red with cold or stress
Cervical lymphadenopathy, desquamating rash, coronary, aneurysms, red conjunctivae and tongue, hand-foot changes
Red, itchy, swollen rash of nipple/areola
“Cherry-red spots” on macula
Child with fever later develops red rash on face that spreads to body
Rapidly progressive limb weakness that ascends following GI/URI
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Pupil accommodates but doesn’t react
Splinter hemorrhages in fingernails
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises, lipid-laden macrophages
Continuous 'machine-like' heart murmur
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Slow, progressive muscle weakness in boys
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Calf pseudohypertrophy
Vitamin deficiency: swollen gums, bruising, petechiae, hemarthrosis, poor wound healting
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
Episodic vertigo, tinnitus, hearing loss
Golden brown rings around peripheral cornea
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Early: triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis. Late: progressive renal failure, cardiovascular disease
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Athlete with polycythemia
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Congenital infection: rhinorrhea, bone abnormalities, desquamating rash
Progressive neurodegeneration, developmental delay, 'cherry-red' spot on macula, lysosomes with onion skin, (no hepatomegaly)
Dog or cat bite resulting in infection
Vitamin deficiency: night blindness, dry scaly skin, corneal degeneration, immunosuppression
Sudden swollen/painful big toe joint, tophi
Skin hyperpigmentation, hypotension, fatigue
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Muffled heart sounds, distended neck veins, hypotension
Migratory arthritis, carditis, subcutaneous nodules, erythema marginatum, chorea
Bilateral acoustic schawnnomas
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Rash on palms and soles
Slow muscle relaxation, cataracts, balding, gonadal atrophy
Enlarged, hard left supraclavicular node

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