Classic Presentations Flashcards by Erica Lee

Classic Presentations

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

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Classic Presentations

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

Clostridium difficile infection

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Classic Presentations

Achilles tendon xanthoma

Familial hypercholesterolemia (↓ LDL receptor signaling)

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Classic Presentations

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

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Classic Presentations

Anaphylaxis following blood transfusion

IgA deficiency

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Classic Presentations

Anterior “drawer sign” ⊕

Anterior cruciate ligament (ACL) injury

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Classic Presentations

Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin defect)

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Classic Presentations

Athlete with polycythemia

2° to erythropoietin injection

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Classic Presentations

Back pain, fever, night sweats

Pott disease (vertebral TB)

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Classic Presentations

Bilateral acoustic schwannomas

Neurofibromatosis type 2

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Classic Presentations

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

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Classic Presentations

Black eschar on face of patient with diabetic ketoacidosis

Mucor or Rhizopus fungal infection

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Classic Presentations

Blue sclera

Osteogenesis imperfecta (type I collagen defect)

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Classic Presentations

Bluish line on gingiva

Burton line (lead poisoning)

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Classic Presentations

Bone pain, bone enlargement, arthritis

Paget disease of bone (↑ osteoblastic and osteoclastic activity

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Classic Presentations

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

Aortic regurgitation

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Classic Presentations

“Butterfly” facial rash and Raynaud phenomenon in a young female

Systemic lupus erythematosus

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Classic Presentations

Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

Neurofibromatosis type I

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Classic Presentations

Cafe-au-lait spots (unilateral), polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

McCune-Albright syndrome (mosaic G-protein signaling mutation

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Classic Presentations

Calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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Classic Presentations

Cervical lymphadenopathy, desquamating rah, coronary aneurysms, red conjunctivae & tongue, hand-foot changes

Kawasaki disease (treat with IVIG and aspirin)

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Classic Presentations

“Cherry-red spots” on macula

Tay-Sachs (ganglioside accumulation) or Nieman-Pick (sphingomyelin accummulation), central retinal artery occlusion

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Classic Presentations

Chest pain on exertion

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

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Classic Presentations

Chest pain, pericardial effusion/friction rub, persistent fever following MI

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

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# Classic Presentations Chest pain with ST depressions on EKG

Unstable angina (⊝ troponins) or NSTEMI (⊕ troponins)

# Classic Presentations Child uses arms to stand up from squat

Duchenne muscular dystrophy (Gower sign)

# Classic Presentations Child with fever later develops red rash on face that spreads to body

Erythema infectiosum/fifth disease ("slapped cheeks" appearance, caused by Parvovirus B19

# Classic Presentations Chorea, dementia, caudate degeneration

Huntington disease (autosomal dominant CAG repeat expansion)

# Classic Presentations Chorioretinitis, hydrocephalus, intracranial calcifications

Congenital toxoplasmosis

# Classic Presentations Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

McArdle diseaes (skeletal muscle glycogen phosphorylase deficiency)

# Classic Presentations Cold intolerance

Hypothyroidism

# Classic Presentations Conjugate horizontal gaze palsy; horizontal diplopia

Intrnuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

# Classic Presentations Continuous "machine-like" heart murmur

PDA (close with indomethacin; keep open with PGE analogs)

# Classic Presentations Cutaneous/dermal edema to connective tissue deposition

Myxedema (caused by hypothyroidism, Graves disease [pretibial]

# Classic Presentations Cutaneous flushing, diarrhea, bronchospasm

Carcinoid syndrome (right-sided cardiac valvular lesions, ↑ 5-HIAA

# Classic Presentations Dark purple skin/mouth nodules in a patient with AIDS

Kaposi sarcoma (associated with HHV-8

# Classic Presentations Deep, labored breathing/hyperventilation

Diabetic ketoacidosis (Kussmaul respiration)

# Classic Presentations Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3 deficiency])

# Classic Presentations Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine [vitamin B1] deficiency

# Classic Presentations Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

# Classic Presentations Dry eyes, dry mouth, arthritis

Sjogren syndrome (autimmune destruction of exocrine glands)

# Classic Presentations Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

# Classic Presentations Elastic skin, hypermobility of joints, ↑ bleeding tendencies

Ehler-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype)

# Classic Presentations Enlarged, hard left suprclavicular node

Virchow node (abdominal metastasis)

# Classic Presentations Episodic vertigo, tinnitus, hearing loss

Meniere disease

# Classic Presentations Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

# Classic Presentations Facial muscle spasm on tapping

Chvostek sign (hypocalcemia)

# Classic Presentations Fat, female, forty, fertile

Cholelithiasis (gallstones)

# Classic Presentations Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)

# Classic Presentations Fever, cough, conjunctivitis, coryza, diffuse rash

Measles

# Classic Presentations Fever, night sweats, weight loss

B symptoms (staging) of lymphoma

# Classic Presentations Fibrous plaques in soft tissue of penis with abnormal curvature

Peyronie disease (connective tissue disorder)

# Classic Presentations Golden brown rings around peripheral cornea

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

# Classic Presentations Gout, intellectual disability, self-mutilating behavior in a boy

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

# Classic Presentations Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

Petuz-Jeghers syndrome (inherited, benign polyposis, can cause bowel obstruction; ↑ cancer risk, mainly GI)

# Classic Presentations Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

Gaucher disease (glucocerebrosidase deficiency)

# Classic Presentations Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in collagen IV)

# Classic Presentations Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

# Classic Presentations Hyperreflexia, hypertonia, Babinski reflex present

UMN damage

# Classic Presentations Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

# Classic Presentations Hypoxemia, polycythemia, hypercapnia

Chronic bronchitis (hyperplasia of mucous cells, "blue bloater")

# Classic Presentations Indurated, ulcerated genital lesion

Nonpainful: chancre (1° C syphilis, Treponema pallidum) | Painful, with exudate: Chancroid (Haemophilus ducreyi)

# Classic Presentations Infant with clef lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Patau syndrome (trisomy 13)

# Classic Presentations Infant with hypoglycemia, hepatomegaly

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)

# Classic Presentations Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Edwards syndrome (trisomy 18)

# Classic Presentations Jaundice, palpable, distended, non-tender gallbladder

Courvoisier sign (distal malignant obstruction of biliary tree)

# Classic Presentations Large rash with bull's-eye appearance

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

# Classic Presentations Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

# Classic Presentations Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

# Classic Presentations Mucosal bleeding and prolonged bleeding time

Glanzmann thromboasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

# Classic Presentations Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

# Classic Presentations Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Gardner syndrome (subtype of FAP)

# Classic Presentations Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

# Classic Presentations Neonate with arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")

# Classic Presentations No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarction)

# Classic Presentations Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

# Classic Presentations Painful blue fingers/toes, hemolytic anemia

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)

# Classic Presentations Painful fingers/toes changing color from blue to white to red with cold or stress

Raynaud phenomenon (vasospasm in extremities)

# Classic Presentations Painful, raised red lesions on pads of fingers/toes

Osler nodes (infectious endocarditis, immune complex deposition)

# Classic Presentations Painless erythematous lesions on palm and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

# Classic Presentations Painless jaundice

Cancer of the pancreatic head obstructing bile duct

# Classic Presentations Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

# Classic Presentations Pancreatic, pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

# Classic Presentations Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia

Nephrotic syndrome

# Classic Presentations Pink complexion, dyspnea, hyperventilation

Emphysema ("pink puffer", centriacinar [smoking] or panacinar [α1-antitrypsin deficiency)

# Classic Presentations Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

# Classic Presentations Pruritic, purple, polygonal planar papules and plaques (6 Ps)

Lichen planus

# Classic Presentations Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

# Classic Presentations Pupil accommodates but doesn't react

Neurosyphilis (Argyll Robertson pupil)

# Classic Presentations Rapidly progressive limb weakness that ascends following GI/upper respiratory infection

Guillain-Barre syndreom (acute inflammatory demyelinating polyradiculopathy subtype)

# Classic Presentations Rash on palms and soles

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

# Classic Presentations Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

# Classic Presentations Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae pneumonia

# Classic Presentations Red "currant jelly" stools

Acute mesenteric ischemia (adults) | Intussusception (children)

# Classic Presentations Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underlying neoplasm)

# Classic Presentations Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobuinuria

# Classic Presentations Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

# Classic Presentations Resting tremor, rigidity, akinesia, postural instability, shuffling gait

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

# Classic Presentations Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

# Classic Presentations Severe jaundice in neonate

Crigler-Najjar syndreom (congenital unconjugated hyperbilirubinemia)

# Classic Presentations Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

# Classic Presentations Severe RLQ with deep tenderness

McBurney sign (acute appendicitis)

# Classic Presentations Short stature, cafe au lait spots, thumb/radial defects, ↑ incidence of tumors/leukemia, aplastic anemia

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

# Classic Presentations Single palmar crease

Down Syndrome

# Classic Presentations Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

# Classic Presentations Skin hyperpigmentation, hypotension, fatigue

1° adrenocortical insufficiency (eg Addison's disease) → ↑ ACTH & α-MSH production

# Classic Presentations Slow, progressive muscle weakness in boys

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

# Classic Presentations Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Koplik spots (measles [rubeola] virus)

# Classic Presentations Smooth, moist, painless, wart-like lesions on genitals

Condyloma lata (2° syphilis)

# Classic Presentations Splinter hemorrhages in fingernails

Bacterial endocarditis

# Classic Presentations "Strawberry tongue"

Scarlet fever | Kawasaki disease

# Classic Presentations Streak ovaries, congenital heart disease, horseshoe kidneys, cystic hygroma at birth, short stature, webbed neck, lymphedema

Turner syndrome (45, XO)

# Classic Presentations Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

# Classic Presentations Swollen gums, mucosal bleeding, poor wound healing, petechiae

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

# Classic Presentations Swollen, hard, painful finger joints

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

# Classic Presentations Systolic ejection murmur (crescendo-decrescendo)

Aortic stenosis

# Classic Presentations Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

Osler-Weber-Rendu syndrome

# Classic Presentations Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant RET mutation)

# Classic Presentations Thyroid tumors, pheochromocytoma, ganglioneuromatosis

MEN 2B (autosomal dominant RET mutation)

# Classic Presentations Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

# Classic Presentations Unilateral facial drooping involving forehead

LMN facial nerve (CN VII) palsy (UMN lesions spare the forehead)

# Classic Presentations Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

# Classic Presentations Vascular birthmark (port-wine stain) of the face

Neveus flammeus (benign, but associated with Sturge-Weber syndrome)

# Classic Presentations Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

# Classic Presentations Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple disease (Tropheryma whipplei)

# Classic Presentations "Worst headache of my life"

Subarachnoid hemorrhage

Classic Presentations Flashcards

(126 cards)