Science Quiz / FA USMLE Rapid Review Classic Presentations

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Name the Classic Presentations

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

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