Step 1 - First Aid 2012 Classic Presentations

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Abdominal pain, ascites, hepatomegaly

Budd-Chiari Syndrome (posthepatic venous thrombosis)

Achillens tendon xanthoma

Familial hypercholesterolemia (decreased LDL receptor signaling)

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan's syndrome (fibrillin defect)

Athlete with polycythemia

Erythropoietin injection

Back pain, fever, night sweats, weight loss

Pott's disease (vertebral TB)

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

Blue sclera

Osteogenesis imperfecta (collagen defect)

Bluish line on gingiva

Burton's line (lead poisoning)

Bone pain, bone enlargement, arthritis

Paget's disease of bone (increase osteoblastic and osteoclastic activity)

Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

"Butterfly" facial rash and Raynaud's phenomenon in a young female

Systemic lupus erythematosus

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

Neurofibromatosis 1 (+ pheochromocytoma, optic gliomas)
Neurofibromatosis 2 (+ bilateral acoustic neuromas)

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty

McCune-Albright syndrome (mosaic G-protein signaling mutation)

Calf pseudohypertrophy

Muscular Dystrophy (most commonly Duchenne's): XLR deletion of dystrophin gene

"Cherry red spot" on macula

- Tay-Sachs (ganglioside accumulation)
- Niemann-Pick (sphingomyelin accumulation)
- central retinal artery occlusion

Chest pain on exertion

Angina (stable: moderate exertion; unstable: minimal exertion)

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

Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditi, 1-12 weeks after acute episode)

Child uses arms to stand up from squat

Gowers' sign (Duchenne muscular dystrophy)

Child with fever develops red rash on face that spreads to body

"Slapped cheek" = erythema infectosum/fifth disease: parvovirus B19

Chorea, dementia, caudate degeneration

Huntington's disease (AD CAG repeat expansion)

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

McArdle's disease (muscle glycogen phosphorylase deficiency)

Cold intolerance

Hypothyroidism

Conjugate lateral gaze palsy, horizontal diplopia

Internuclear ophthalmoplegia (damage to MLF; bilateral: multiple sclerosis, unilateral: stroke)

Continuous "machinery" heart murmur

Patent Ductus Arteriosus (close w/ indomethacin, open w/ misoprostol)

Cutaneous/Dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism, Graves' disease [periorbital])

Dark purple skin/mouth nodules

Kaposi's sarcoma (usually AIDS patients/gay men; associated with HHV-8)

Deep, labored breathing/hyperventilation

Kussmaul breathing (diabetic ketoacidosis)

Dermatitis, dementia, diarrhea

Pellagra (niacin/Vit B3 deficiency)

Dilated cardiomyopathy, edema, polyneuropathy

Wet beriberi (thiamine/Vit B1 deficiency)

Dog or cat bite resulting in infection

Pasteurella multocida (cellulitis at inoculation site)

Dry eyes, dry mouth, arthritis

Sjogren's syndrome (autoimmune destruction of exocrine glands)

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (type III collagen defect)

Enlarged, hard left supraclavicular node

Virchow's node (abdominal metastasis)

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Sezary syndrome (cutaneous T cell lymphoma) or mycosis fungoides

Facial muscle spasm upon tapping

Chvostek's sign (hypocalcemia)

Fat, female, forty, fertile

Acute cholelithiasis (bile duct blockage)

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

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

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles (Morbillivirus)

Fever, night sweats, weight loss

B symptoms (lymphoma)

Fibrous plaques in soft tissue of penis

Peyronie's disease (connective tissue disorder)

Gout, mental retardation, self-mutilating behavior in boy

Lesch-Nyhan syndrome (HGPRT deficiency, XLR)

Green-yellow rings around peripheral cornea

Kayser-Fleischer rings (copper accumulation from Wilson's disease)

Hamartomous GI Polyps, hyperpigmentation of mouth/feet/hands

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Gaucher's disease (glucocerebrosidase deficiency)

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation of alpha chain of collagen IV)

Hypercoagulability (leading to migrating DVTs and vasculitis)

Trousseau's sign (adenocarcinoma of pancreas or lung)

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Kluver-Bucy syndrome (bilateral amygdala lesion)

Hyperreflexia, hypertonia, positive Babinski sign

UMN damage

Hypertension, hypokalemia, metabolic alkalosis

Conn's syndrome

Hyporeflexia, hypotonia, atrophy

LMN damage

Hypoxemia, polycythemia, hypercapnia

"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

Indurated, ulcerated genital lesion

Nonpainful: chancre (1o syphilis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Cori's disease (debranching enzyme deficiency)

Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defects (VSD, ASD)

Edwards' syndrome (Trisomy 18)

Keratin pearls on a skin biopsy

Squamous cell carcinoma

Large rash with bull's-eye appearance

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

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

Male child, recurrent infections, no mature B cells

Bruton's disease (X-linked agammaglobulinemia)

Mucosal bleeding and prolonged bleeding time

Glanzmann's thrombasthenia (Defect in platelet aggregation due to lack of GpIIb/IIIa)

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

Gardner's syndrome (subtype of FAP)

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency)

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)

Neonate with arm paralysis following difficult birth

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

No lactation postpartum, absent menstruation, cold intolerance

Sheehan's syndrome (pituitary infarction)

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

Oscillating slow/fast breathing

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

Painful blue fingers/toes, hemolytic anemia

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

Painful, pale, cold fingers/toes

Raynaud's syndrome (vasospasm in extremities)

Painful, raised red lesions on palms and soles

Osler's node (infective endocarditis)

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis)

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)

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

Pancreatic, pituitary, parathyroid tumors

MEN 1 (AD)

Pink complexion, dyspnea, hyperventilation

"Pink Puffer" (emphysema: centroacinar [smoking], panacinar [alpha 1 antitrypsin deficiency])

Polyuria, acidosis, growth failure, electrolyte imbalances

Fanconi's syndrome (proximal tubular reabsorption defect)

Positive anterior "drawer sign"

Anterior cruciate ligament (ACL) injury

Ptosis, miosis, anhidrosis

Horner's syndrome (sympathetic chain lesion)

Pupil accomodates but doesn't react

Argyll-Robertson pupil (neurosyphilis)

Rapidly progressive leg weakness that ascends (Following GI/URI)

Guillain-Barre Syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)

Rash on palms and soles

Coxsackie A, 2o syphilis, Rocky Mountain Spotted Fever

Recurrent colds, unusual eczema, high serum IgE

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

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

Red, itchy, swollen rash of nipple/areola

Paget's disease of the breast (represents underlying neoplasm)

Red urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

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

Resting tremor, rigidity, akinesia, postural instability

Parkinson's disease (nigrostriatal dopamine depletion)

Retinal hemorrhages with pale centers

Roth's spots (bacterial endocarditis)

Severe jaundice in neonate

Cirgler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Severe RLQ pain with rebound tenderness

McBurney's sign (appendicitis)

Short stature, increased incidence of tumors/leukemia, aplastic anemia

Fanconi's anemia (genetic loss of DNA crosslink repair, often progresses to AML)

Single palmar crease

Down's Syndrome (Trisomy 21) = simian crease

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener's syndrome (dynein arm defect affecting cilia)

Skin hyperpigmentation

Addison's disease (1o adrenocorticol insufficiency causes increase ACTH and alpha-MSH production)

Slow, progressive muscle weakness in boys

Becker's muscular dystrophy (XL missense mutation in dystrophin; less severe than Duchenne's)

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

Koplik spots (measles; rubeola virus)

Smooth, flat, moist white lesions on genitals

Condylomata lata (2o syphilis)

Splinter hemorrhages in fingernails

Bacterial endocarditis

"Strawberry tongue"

Scarlet fever, Kawasaki disease, toxic shock syndrome

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth

Turner syndrome (45XO, short stature, webbed neck, lymphedema)

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

Swollen gums, mucous bleeding, poor wound healing, spots on skin

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

Swollen, hard, painful finger joints

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

Systolic ejection murmur (crescendo-decrescendo)

Aortic valve stenosis

Thyroid and parathyroid tumors, pheochromocytoma

MEN2A (AD ret mutation)

Thyroid tumors, pheochromocytoma, ganglionueromatosis

MEN 2B (AD ret mutation)

Toe extension/fanning upon plantar scrape

Babinski sign (UMN Lesion)

Unilateral facial drooping involving forehead

Bell's palsy (LMN CN7 palsy)

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

Vascular birthmark (port-wine stain)

Hemangioma (benign, but associated with Sturge-Weber syndrome)

Vomiting blood following esophagogastric lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

"Waxy" casts with very low urine flow

Chronic end-stage renal disease

WBC Casts in urine

Acute pyelonephritis

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's Disease (Tropheryma whippelli)

"Worst headache of my life"

Subarachnoid hemorrhage

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