Science Quiz / FA USMLE Rapid Review Classic Presentations

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Name the Classic Presentations

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

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