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119 Cards in this Set
- Front
- Back
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What diagnosis / disease is associated with abdominal pain, ascites, and hepatomegaly? |
Budd-Chiari Syndrome (post-hepatic venous thrombosis)
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What diagnosis / disease is associated with achilles tendon xanthomas?
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Familial hypercholesterolemia (↓ LDL receptor signaling)
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What diagnosis / disease is associated with adrenal hemorrhage, hypertension, and DIC?
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Waterhouse-Friderichsen Syndrome (meningococcemia)
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What diagnosis / disease is associated with an anterior drawer sign?
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ACL injury
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What diagnosis / disease is associated with arachnodactyly, lens dislocation, aortic dissection, and hyperflexible joints?
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Marfan Syndrome (fibrillin defect)
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What diagnosis / disease is associated with athletes with polycythemia?
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Erythropoietin injection causes polycytheima
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What diagnosis / disease is associated with back pain, fever, night sweats, and weight loss?
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Pott Disease (vertebral TB)
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What diagnosis / disease is associated with bilateral hilar adenopathy and uveitis?
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Sarcoidosis (non-caseating granulomas)
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What diagnosis / disease is associated with blue sclera?
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Osteogenesis imperfecta (type I collagen defect)
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What diagnosis / disease is associated with bluish line on gingiva?
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Burton line (lead poisoning)
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What diagnosis / disease is associated with bone pain, bone enlargement, and arthritis?
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Paget disease of bone (↑ osteoblastic and osteoclastic activity)
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What diagnosis / disease is associated with bounding pulses, diastolic heart murmur, and head bobbing?
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Aortic regurgitation
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What diagnosis / disease is associated with "butterfly" facial rash and Raynaud phenomenon in a young female?
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Systemic Lupus Erythematosus
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What diagnosis / disease is associated with Café-au-lait spots and Lisch nodules (iris hamartoma)?
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Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
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What diagnosis / disease is associated with Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, and multiple endocrine abnormalities?
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McCune-Albright syndrome (mosaic G-protein signaling mutation)
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What diagnosis / disease is associated with calf pseudohypertrophy?
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Muscular Dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
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What diagnosis / disease is associated with "Cherry-red spots" on the macula?
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Tay-Sachs (ganglioside accumulation or Niemann-Pick (sphingomyelin accumulation) caused by central retinal artery occlusion
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What diagnosis / disease is associated with chest pain on exertion?
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Angina (stable: with moderate exertion; unstable: with minimal exertion)
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What diagnosis / disease is associated with chest pain, pericardial effusion/friction rub, and persistent fever following MI?
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Dressler Syndrome (auto-immune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
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What diagnosis / disease is associated with a child who uses their arms to stand up from a squat?
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Gowers Sign → Duchenne Muscular Dystrophy
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What diagnosis / disease is associated with a child with a fever that later develops a red rash on their face that spreads to the body?
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"Slapped Cheeks" = Erythema Infectiosum / fifth disease: Parvovirus B19
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What diagnosis / disease is associated with chorea, dementia, and caudate degeneration?
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Huntington Disease (autosomal dominant CAG repeat expansion)
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What diagnosis / disease is associated with chronic exercise intolerance with myalgia, fatigue, painful cramps, and myoglobinuria?
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McArdle Disease (muscle glycogen phosphorylase deficiency)
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What diagnosis / disease is associated with cold intolerance?
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Hypothyroidism
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What diagnosis / disease is associated with conjugate lateral gaze palsy and horizontal diplopia?
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Internuclearopthalmoplegia (damage to MLF)
- Bilateral: multiple sclerosis - Unilateral: stroke |
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What diagnosis / disease is associated with a continuous "machine-like" heart murmur?
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PDA (close with indomethacin; open or maintain with misoprostol)
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What diagnosis / disease is associated with cutaneous / dermal edema due to connective tissue deposition?
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Myxedema (caused by hypothyroidism or Graves disease [pretibial])
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What diagnosis / disease is associated with dark purple skin/mouth nodules in a patient with AIDS?
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Kaposi sarcoma, associated with HHV-8
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What diagnosis / disease is associated with deep, labored breathing / hyperventilation?
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Kussmaul respirations (diabetic ketoacidosis)
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What diagnosis / disease is associated with dermatitis, dementia, and diarrhea?
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Pellagra (niacin [vitamin B3] deficiency)
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What diagnosis / disease is associated with dilated cardiomyopathy, edema, alcoholism or malnutrition?
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Wet beriberi (thiamine [vitamin B1] deficiency)
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What diagnosis / disease is associated with dog or cat bite resulting in infection?
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Pasteurella multocida (cellulitis at inoculation site)
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What diagnosis / disease is associated with dry eyes, dry mouth, and arthritis?
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Sjögren Syndrome (autoimmune destruction of exocrine glands)
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What diagnosis / disease is associated with dysphagia (esophageal webs), glossitis, and iron deficiency anemia?
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Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma)
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What diagnosis / disease is associated with elastic skin and hypermobile joints?
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Ehlers-Danlos syndrome (type III collagen defect)
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What diagnosis / disease is associated with an enlarged, hard left supraclavicular node?
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Virchow node (sign of an abdominal metastasis)
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What diagnosis / disease is associated with erythroderma, lymphadenopathy, hepatosplenomegaly, and atypical T cells?
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Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
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What diagnosis / disease is associated with facial muscle spasm upon tapping?
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Chvowstek sign (hypocalcemia)
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What diagnosis / disease is associated with fat, female, forty, and fertile?
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Cholelithiasis (gallstones)
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What diagnosis / disease is associated with fever, chills, headache, and myalgia following antibiotic treatment for syphilis?
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Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
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What diagnosis / disease is associated with fever, cough, conjunctivitis, coryza, and diffuse rash?
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Measles
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What diagnosis / disease is associated with fever, night sweats, and weight loss?
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B symptoms (staging) of lymphoma
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What diagnosis / disease is associated with fibrous plaques in soft tissue of penis?
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Peyronie disease (CT disorder)
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What diagnosis / disease is associated with gout, intellectual disability, and self-mutalating behavior in a boy?
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Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
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What diagnosis / disease is associated with green-yellow rings around peripheral cornea?
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Kayser-Fleischer rings (copper accumulation from Wilson disease)
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What diagnosis / disease is associated with hamartomatous GI polyps and hyperpigmentation of mouth/feet/hands?
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Peutz-Jeghers Syndrome (inherited, benign polyposis can cause bowel obstruction; ↑ cancer risk, mainly GI)
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What diagnosis / disease is associated with hepatosplenomegaly, osteoporosis, and neurologic symptoms?
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Gaucher disease (glucocerebrosidase deficiency)
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What diagnosis / disease is associated with hereditary nephritis, sensorineural hearing loss, and cataracts?
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Alport Syndrome (mutation in collagen IV)
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What diagnosis / disease is associated with hyperphagia, hypersexuality, hyperorality, and hyperdocility?
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Klüver-Bucy Syndrome (bilateral amygdala lesion)
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What diagnosis / disease is associated with hyperreflexia, hypertonia, and Babinski sign present?
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UMN damage
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What diagnosis / disease is associated with hyporeflexia, hypotonia, atrophy, and fasciculations?
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LMN damage
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What diagnosis / disease is associated with hypoxemia, polycythemia, and hypercapnia?
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"Blue bloater" (chronic bronchitis: hyperplasia of mucus cells)
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What diagnosis / disease is associated with a non-painful, indurated and ulcerated genital lesion?
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Chancre (1° syphilis, Treponema pallidum)
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What diagnosis / disease is associated with a painful, indurated and ulcerated genital lesion with an exudate?
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Chancroid (Haemophilus ducreyi)
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What diagnosis / disease is associated with an infant with a cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, and cutis aplasia?
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Patau syndrome (trisomy 13)
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What diagnosis / disease is associated with an infant with failure to thrive, hepatosplenomegaly, and neurodegeneration?
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Niemann-Pick disease (genetic sphingomyelinase deficiency)
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What diagnosis / disease is associated with an infant with hypoglycemia, failure to thrive, and hepatomegaly?
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Cori Disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
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What diagnosis / disease is associated with an infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect?
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Edwards syndrome (trisomy 18)
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What diagnosis / disease is associated with jaundice and palpable distended non-tender gallbladder?
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Courvoisier sign (distal obstruction of biliary tree)
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What diagnosis / disease is associated with a large rash with a bull's-eye appearance?
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Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
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What diagnosis / disease is associated with a lucid interval after a traumatic brain injury?
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Epidural hematoma (middle meningeal artery rupture)
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What diagnosis / disease is associated with a male child with recurrent infections and no mature B cells?
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Bruton disease (X-linked agammaglobulinemia)
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What diagnosis / disease is associated with mucosal bleeding and prolonged bleeding time?
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Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
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What diagnosis / disease is associated with muffled heart sounds, distended neck veins, and hypotension?
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Beck triad of cardiac tamponade
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What diagnosis / disease is associated with multiple colon polyps, osteomas / soft tissue tumors, and impacted / supernumerary teeth?
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Gardner Syndrome (subtype of FAP)
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What diagnosis / disease is associated with myopathy (infantile hypertrophic cardiomyopathy) and exercise intolerance?
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Pompe disease (lysosomal α-1,4-glucosidase deficency)
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What diagnosis / disease is associated with a neonate with arm paralysis following a difficulty birth?
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Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury - "waiter's tip")
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What diagnosis / disease is associated with a lack of lactation post-partum, absent menstruation, and cold intolerance?
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Sheehan Syndrome (pituitary infarction)
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What diagnosis / disease is associated with nystagmus, intention tremor, scanning speech, and bilateral internuclear ophthalmoplegia?
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Multiple Sclerosis
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What diagnosis / disease is associated with oscillating slow/fast breathing?
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Cheyne-Stokes respirations (central apnea in CHF or ↑ intracranial pressure)
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What diagnosis / disease is associated with painful blue fingers/toes and hemolytic anemia?
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Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
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What diagnosis / disease is associated with painful, pale, and cold fingers/toes?
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Raynaud phenomenon (vasospasm in extremities)
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What diagnosis / disease is associated with painful, raised red lesions on pad of fingers and toes?
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Osler nodes (infective endocarditis, imune complex deposition)
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What diagnosis / disease is associated with painless erythematous lesions on palms and soles?
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Janeway lesions (infective endocarditis, septic emboli/microabscesses)
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What diagnosis / disease is associated with painless jaundice?
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Cancer of the pancreatic head obstructing the bile duct
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What diagnosis / disease is associated with palpable purpura on buttocks/legs, joint pain, abdominal pain (child), and hematuria?
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Henoch-Schönlein Purpura (IgA vasculitis affecting skin and kidneys)
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What diagnosis / disease is associated with pancreatic, pituitary, and parathyroid tumors?
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MEN 1 (autosomal dominant)
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What diagnosis / disease is associated with periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, and hypercholesterolemia?
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Nephrotic Syndrome
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What diagnosis / disease is associated with pink complexion, dyspnea, and hyperventilation?
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"Pink Puffer" (emphysema)
- Centriacinar: smoking - Panacinar: α1-antitrypsin deficiency |
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What diagnosis / disease is associated with polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, and hypophosphatemic rickets?
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Fanconi syndrome (proximal tubular reabsorption defect)
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What diagnosis / disease is associated with pruritic, purple, polygonal planar papules and plaques?
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Lichen Planus
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What diagnosis / disease is associated with ptosis, miosis, and anhidrosis?
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Horner Syndrome (sympathetic chain lesion)
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What diagnosis / disease is associated with a pupil that accommodates but doesn't react?
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Argyll Robertson pupil (neurosyphilis)
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What diagnosis / disease is associated with rapidly progressive leg weakness that ascends following GI or upper respiratory infection?
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Guillain-Barré Syndrome (acute auto-immune inflammatory demyelinating polyneuropathy)
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What diagnoses / diseases are associated with a rash on palms and soles?
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- Coxsackie A
- 2° Syphilis - Rocky Mountain Spotted Fever |
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What diagnosis / disease is associated with recurrent colds, unusual eczema, and high serum IgE?
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Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
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What diagnosis / disease is associated with red "currant jelly" sputum in alcoholic or diabetic patients?
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Klebsiella pneumoniae
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What diagnosis / disease is associated with red "currant jelly" stools?
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- Acute mesenteric ischemia (adults)
- Intussusception (infants) |
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What diagnosis / disease is associated with red, itchy, and swollen rash of nipples / areola?
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Paget disease of the breast (sign of underlying neoplasm)
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What diagnosis / disease is associated with red urine int he morning and fragile RBCs?
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Paroxysmal nocturnal hemoglobinuria
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What diagnosis / disease is associated with renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, and pheochromocytomas?
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von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
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What diagnosis / disease is associated with resting tremor, rigidity, akinesia, and postural instability?
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Parkinson disease (nigrostriatal dopamine depletion)
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What diagnosis / disease is associated with retinal hemorrhages with pale centers?
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Roth spots (bacterial endocarditis)
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What diagnosis / disease is associated with severe jaundice in a neonate?
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Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
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What diagnosis / disease is associated with severe RLQ pain with palpation of LLQ?
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Rovsing sign (acute appendicitis)
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What diagnosis / disease is associated with severe rLQ pain with rebound tenderness?
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McBurney sign (acute appendicitis)
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What diagnosis / disease is associated with short stature, ↑ incidence of tumors / leukemia, and aplastic anemia?
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Fanconi Anemia (genetic loss of DNA crosslink repair, often progresses to AML)
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What diagnosis / disease is associated with a single palmar crease?
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Down Syndrome
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What diagnosis / disease is associated with situs inversus, chronic sinusitis, bronchiectasis, and infertility?
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Kartagener syndrome (dynein arm defect affecting cilia)
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What diagnosis / disease is associated with skin hyperpigmentation, hypotension, and fatigue?
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Addison disease (1° adrenocortical insufficiency causes ↑ ACTH and ↑ α-MSH production)
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What diagnosis / disease is associated with slow, progressive muscle weakness in boys?
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Becker Muscular Dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
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What diagnosis / disease is associated with small, irregular red spots on buccal / lingual mucosa with blue-white centers?
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Koplik spots (measles, rubeola virus)
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What diagnosis / disease is associated with smooth, flat, moist, painless white lesions on genitals?
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Condylomata lata (2° syphilis)
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What diagnosis / disease is associated with splinter hemorrhages in fingernails?
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Bacterial endocarditis
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What diagnoses / diseases are associated with "strawberry tongue"?
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- Scarlet fever
- Kawasaki disease - Toxic shock syndrome |
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What diagnosis / disease is associated with streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, and lymphedema?
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Turner Syndrome (45,XO)
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What diagnosis / disease is associated with sudden swollen / painful big toe joint and tophi?
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Gout / Podagra (hyperuricemia)
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What diagnosis / disease is associated with swollen gums, mucosal bleeding, poor wound healing, and petechiae?
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Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
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What diagnosis / disease is associated with swollen, hard, painful finger joints?
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Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
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What diagnosis / disease is associated with systolic ejection murmur (crescendo-decrescendo)?
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Aortic valve stenosis
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What diagnosis / disease is associated with thyroid and parathyroid tumors and pheochromocytoma?
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MEN 2A (autosomal dominant ret mutation)
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What diagnosis / disease is associated with thyroid tumors, pheochromocytoma, and ganglioneuromatosis?
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MEN 2B (autosomal dominant ret mutation)
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What diagnosis / disease is associated with toe extension / fanning upon plantar scrape?
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Babinski sign (UMN lesion)
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What diagnosis / disease is associated with unilateral facial drooping involving the forehead?
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Facial nerve (LMN CN VII palsy)
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What diagnosis / disease is associated with urethritis, conjunctivitis, and arthritis in a male?
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Reactive arthritis with HLA-B27
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What diagnosis / disease is associated with a vascular birthmark (port-wine stain)?
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Hemangioma (benign, but associated with Sturge-Weber syndrome)
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What diagnosis / disease is associated with vomiting blood following gastroesophageal lacerations?
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Mallory-Weiss syndrome (alcoholic and bulimic patients)
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What diagnosis / disease is associated with weight loss, diarrhea, arthritis, fever, and adenopathy?
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Whipple disease (Tropheryma whipplei)
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What diagnosis / disease is associated with "worst headache of my life"?
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Subarachnoid hemorrhage
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