117 terms

Step 1 - First Aid 2012 Classic Presentations

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
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