Science Quiz / FA USMLE Rapid Review Classic Presentations

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Name the Classic Presentations

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

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