First Aid 2014 Rapid Review full Flashcards
Abdominal pain, ascites, hepatomegaly. Disease/Dx?
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma. Disease/Dx?
Familial hypercholesterolemia (dec LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC. Disease/Dx?
Waterhouse-Friderichsen syndrome (meningococcemia)
Anterior “drawer sign” (+). Disease/Dx?
Anterior cruciate ligament injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints. Disease/Dx?
Marfan syndrome (fibrillin defect)
Athlete with polycythemia. Disease/Dx?
2° to erythropoietin injection
Back pain, fever, night sweats, weight loss. Disease/Dx?
Pott disease (vertebral TB)
Bilateral hilar adenopathy, uveitis. Disease/Dx?
Sarcoidosis (noncaseating granulomas)
Blue sclera. Disease/Dx?
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva. Disease/Dx?
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis. Disease/Dx?
Paget disease of bone (inc osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing. Disease/Dx?
Aortic regurgitation
Butterfly facial rash and Raynaud phenomenon in a young female. Disease/Dx?
Systemic lupus erythematosus
Café-au-lait spots, Lisch nodules (iris hamartoma). Disease/Dx?
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities. Disease/Dx?
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy. Disease/Dx?
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
Cherry-red spots on macula. Disease/Dx?
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion. Disease/Dx?
Angina (stable: with moderate exertion; unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI. Disease/Dx?
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat. Disease/Dx?
Gowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body. Disease/Dx?
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration. Disease/Dx?
Huntington disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria. Disease/Dx?
McArdle disease (muscle glycogen phosphorylase deficiency)
Cold intolerance. Disease/Dx?
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia. Disease/Dx?
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machine-like” heart murmur. Disease/Dx?
PDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition. Disease/Dx?
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
Dark purple skin/mouth nodules in a patient with AIDS. Disease/Dx?
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilation. Disease/Dx?
Kussmaul respirations (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea. Disease/Dx?
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition. Disease/Dx?
Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection. Disease/Dx?
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis. Disease/Dx?
Sjögren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia. Disease/Dx?
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints. Disease/Dx?
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular node. Disease/Dx?
Virchow node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells. Disease/Dx?
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping. Disease/Dx?
Chvostek sign (hypocalcemia)
Fat, female, forty, and fertile. Disease/Dx?
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis. Disease/Dx?
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash. Disease/Dx?
Measles
Fever, night sweats, weight loss. Disease/Dx?
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis. Disease/Dx?
Peyronie disease (connective tissue disorder)
Gout, intellectual disability, self-mutilating behavior in a boy. Disease/Dx?
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral cornea. Disease/Dx?
Kayser-Fleischer rings (copper accumulation from Wilson disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands. Disease/Dx?
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; inc cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms. Disease/Dx?
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts. Disease/Dx?
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility. Disease/Dx?
Klüver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present. Disease/Dx?
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations. Disease/Dx?
LMN damage
Hypoxemia, polycythemia, hypercapnia. Disease/Dx?
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion. Disease/Dx?
Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia. Disease/Dx?
Patau syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration. Disease/Dx?
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly. Disease/Dx?
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect. Disease/Dx?
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder. Disease/Dx?
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearance. Disease/Dx?
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
Lucid interval after traumatic brain injury. Disease/Dx?
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells. Disease/Dx?
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time. Disease/Dx?
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension. Disease/Dx?
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth. Disease/Dx?
Gardner syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance. Disease/Dx?
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth. Disease/Dx?
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)
No lactation postpartum, absent menstruation, cold intolerance. Disease/Dx?
Sheehan syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia. Disease/Dx?
Multiple sclerosis
Oscillating slow/fast breathing. Disease/Dx?
Cheyne-Stokes respirations (central apnea in CHF or inc intracranial pressure)
Painful blue fingers/toes, hemolytic anemia. Disease/Dx?
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful, pale, cold fingers/toes. Disease/Dx?
Raynaud phenomenon (vasospasm in extremities)
Painful, raised red lesions on pad of fingers/toes. Disease/Dx?
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles. Disease/Dx?
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
Painless jaundice. Disease/Dx?
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria. Disease/Dx?
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors. Disease/Dx?
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia. Disease/Dx?
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation. Disease/Dx?
Pink puffer (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets. Disease/Dx?
Fanconi syndrome (proximal tubular reabsorption defect)
Pruritic, purple, polygonal planar papules and plaques (6 P’s). Disease/Dx?
Lichen planus
Pupil accommodates but doesn’t react. Disease/Dx?
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection. Disease/Dx?
Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles. Disease/Dx?
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE. Disease/Dx?
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients. Disease/Dx?
Klebsiella pneumoniae
Red “currant jelly” stools. Disease/Dx?
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/areola. Disease/Dx?
Paget disease of the breast (sign of underlying neoplasm)
Red urine in the morning, fragile RBCs. Disease/Dx?
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma. Disease/Dx?
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability. Disease/Dx?
Parkinson disease (nigrostriatal dopamine depletion)
Retinal hemorrhages with pale centers. Disease/Dx?
Roth spots (bacterial endocarditis)
Severe jaundice in neonate. Disease/Dx?
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ. Disease/Dx?
Rovsing sign (acute appendicitis)
Severe RLQ pain with rebound tenderness. Disease/Dx?
McBurney sign (acute appendicitis)
Short stature, inc incidence of tumors/leukemia, aplastic anemia. Disease/Dx?
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Situs inversus, chronic sinusitis, bronchiectasis, infertility. Disease/Dx?
Kartagener syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue. Disease/Dx?
Addison disease (1° adrenocortical insufficiency causes inc ACTH and inc α-MSH production)
Slow, progressive muscle weakness in boys. Disease/Dx?
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Small, irregular red spots on buccal/lingual mucosa with blue-white center. Disease/Dx?
Koplik spots (measles; rubeola virus)
Smooth, flat, moist, painless white lesions on genitals. Disease/Dx?
Condylomata lata (2° syphilis)
Splinter hemorrhages in fingernails. Disease/Dx?
Bacterial endocarditis
Strawberry tongue. Disease/Dx?
Scarlet fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema. Disease/Dx?
Turner syndrome (45,XO)
Sudden swollen/painful big toe joint, tophi. Disease/Dx?
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, petechiae. Disease/Dx?
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints. Disease/Dx?
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Systolic ejection murmur (crescendo-decrescendo). Disease/Dx?
Aortic valve stenosis
Thyroid and parathyroid tumors, pheochromocytoma. Disease/Dx?
MEN 2A (autosomal dominant ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis. Disease/Dx?
MEN 2B (autosomal dominant ret mutation)
Toe extension/fanning upon plantar scrape. Disease/Dx?
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead. Disease/Dx?
Facial nerve (LMN CN VII palsy)
Urethritis, conjunctivitis, arthritis in a male. Disease/Dx?
Reactive arthritis associated with HLA-B27
Vascular birthmark (port-wine stain). Disease/Dx?
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerations. Disease/Dx?
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy. Disease/Dx?
Whipple disease (Tropheryma whipplei)
Worst headache of my life. Disease/Dx?
Subarachnoid hemorrhage
Labs: Anticentromere antibodies. Disease/Dx?
Scleroderma (CREST)
Labs: Antidesmoglein (epithelial) antibodies. Disease/Dx?
Pemphigus vulgaris (blistering)
Labs: Anti-glomerular basement membrane antibodies. Disease/Dx?
Goodpasture syndrome (glomerulonephritis and hemoptysis)
Labs: Antihistone antibodies. Disease/Dx?
Drug-induced SLE (hydralazine, INH, phenytoin, procainamide)
Labs: Anti-IgG antibodies. Disease/Dx?
Rheumatoid arthritis (systemic inflammation, joint pannus, boutonnière deformity)
Labs: Antimitochondrial antibodies (AMAs). Disease/Dx?
1° biliary cirrhosis (female, cholestasis, portal hypertension)
Labs: Antineutrophil cytoplasmic antibodies (ANCAs). Disease/Dx?
Microscopic polyangiitis and Churg-Strauss syndrome (MPO-ANCA/p-ANCA); granulomatosis with polyangiitis (Wegener; PR3-ANCA/c-ANCA)
Labs: Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA). Disease/Dx?
SLE (type III hypersensitivity)
Labs: Antiplatelet antibodies. Disease/Dx?
Idiopathic thrombocytopenic purpura
Labs: Anti-topoisomerase antibodies. Disease/Dx?
Diffuse systemic scleroderma
Labs: Anti-transglutaminase/anti-gliadin/anti-endomysial antibodies. Disease/Dx?
Celiac disease (diarrhea, distention, weight loss)
Labs: “Apple core” lesion on abdominal x-ray. Disease/Dx?
Colorectal cancer (usually left-sided)
Labs: Azurophilic peroxidase, + granular inclusions in granulocytes and myeloblasts. Disease/Dx?
Auer rods (AML, especially the promyelocytic [M3] type)
Labs: Bacitracin response. Disease/Dx?
Sensitive: Streptococcus pyogenes (group A); resistant: Streptococcus agalactiae (group B)
Labs: “Bamboo spine” on x-ray. Disease/Dx?
Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27)
Labs: Basophilic nuclear remnants in RBCs. Disease/Dx?
Howell-Jolly bodies (due to splenectomy or nonfunctional spleen)
Labs: Basophilic stippling of RBCs. Disease/Dx?
Lead poisoning or sideroblastic anemia
Labs: Bloody tap on LP. Disease/Dx?
Subarachnoid hemorrhage
Labs: “Boot-shaped” heart on x-ray. Disease/Dx?
Tetralogy of Fallot, RVH
Labs: Branching gram-positive rods with sulfur granules. Disease/Dx?
Actinomyces israelii
Labs: Bronchogenic apical lung tumor on imaging. Disease/Dx?
Pancoast tumor (can compress sympathetic ganglion and cause Horner syndrome)
Labs: “Brown” tumor of bone. Disease/Dx?
Hyperparathyroidism or osteitis fibrosa cystica (deposited hemosiderin from hemorrhage gives brown color)
Labs: Cardiomegaly with apical atrophy. Disease/Dx?
Chagas disease (Trypanosoma cruzi)
Labs: Cellular crescents in Bowman capsule. Disease/Dx?
Rapidly progressive crescentic glomerulonephritis
Labs: “Chocolate cyst” of ovary. Disease/Dx?
Endometriosis (frequently involves both ovaries)
Labs: Circular grouping of dark tumor cells surrounding pale. Disease/Dx?
Homer-Wright rosettes (neuroblastoma, medulloblastoma, neurofibrils retinoblastoma)
Labs: Colonies of mucoid Pseudomonas in lungs. Disease/Dx?
Cystic fibrosis (autosomal recessive mutation in CFTR gene –> fat-soluble vitamin deficiency and mucous plugs)
Labs: Decreased AFP in amniotic fluid/maternal serum. Disease/Dx?
Down syndrome or other chromosomal abnormality
Labs: Degeneration of dorsal column nerves. Disease/Dx?
Tabes dorsalis (3° syphilis), subacute combined degeneration (dorsal columns and lateral corticospinal tracts affected)
Labs: Depigmentation of neurons in substantia nigra. Disease/Dx?
Parkinson disease (basal ganglia disorder: rigidity, resting tremor, bradykinesia)
Labs: Desquamated epithelium casts in sputum. Disease/Dx?
Curschmann spirals (bronchial asthma; can result in whorled mucous plugs)
Labs: Disarrayed granulosa cells in eosinophilic fluid. Disease/Dx?
Call-Exner bodies (granulosa-theca cell tumor of the ovary)
Labs: Dysplastic squamous cervical cells with nuclear enlargement. Disease/Dx?
Koilocytes (HPV: predisposes to cervical cancer) and hyperchromasia
Labs: Enlarged cells with intranuclear inclusion bodies. Disease/Dx?
Owl eye appearance of CMV
Labs: Enlarged thyroid cells with ground-glass nuclei. Disease/Dx?
Orphan Annie eyes nuclei (papillary carcinoma of the thyroid)
Labs: Eosinophilic cytoplasmic inclusion in liver cell. Disease/Dx?
Mallory body (alcoholic liver disease)
Labs: Eosinophilic cytoplasmic inclusion in nerve cell. Disease/Dx?
Lewy body (Parkinson disease)
Labs: Eosinophilic globule in liver. Disease/Dx?
Councilman body (toxic or viral hepatitis, often yellow fever)
Labs: Eosinophilic inclusion bodies in cytoplasm of hippocampal and cerebellar nerve cells. Disease/Dx?
Negri bodies of rabies
Labs: Extracellular amyloid deposition in gray matter of brain. Disease/Dx?
Senile plaques (Alzheimer disease)
Labs: Giant B cells with bilobed nuclei with prominent inclusions (“owl’s eye”). Disease/Dx?
Reed-Sternberg cells (Hodgkin lymphoma)
Labs: Glomerulus-like structure surrounding vessel in germ cells. Disease/Dx?
Schiller-Duval bodies (yolk sac tumor)
Labs: “Hair on end” (crew-cut) appearance on x-ray. Disease/Dx?
β-thalassemia, sickle cell anemia (marrow expansion)
Labs: hCG elevated. Disease/Dx?
Choriocarcinoma, hydatidiform mole (occurs with and without embryo, and multiple pregnancy)
Labs: Heart nodules (granulomatous). Disease/Dx?
Aschoff bodies (rheumatic fever)
Labs: Heterophile antibodies. Disease/Dx?
Infectious mononucleosis (EBV)
Labs: Hexagonal, double-pointed, needle-like crystals in bronchial secretions. Disease/Dx?
Bronchial asthma (Charcot-Leyden crystals: eosinophilic granules)
Labs: High level of D-dimers. Disease/Dx?
DVT, PE, DIC
Labs: Hilar lymphadenopathy, peripheral granulomatous lesion in middle or lower lung lobes (can calcify). Disease/Dx?
Ghon complex (1° TB: Mycobacterium bacilli)
Labs: “Honeycomb lung” on x-ray or CT. Disease/Dx?
Interstitial pulmonary fibrosis
Labs: Hypercoagulability (leading to migrating DVTs and vasculitis). Disease/Dx?
Trousseau syndrome (adenocarcinoma of pancreas or lung)
Labs: Hypersegmented neutrophils. Disease/Dx?
Megaloblastic anemia (B12 deficiency: neurologic symptoms; folate deficiency: no neurologic symptoms)
Labs: Hypertension, hypokalemia, metabolic alkalosis. Disease/Dx?
Conn syndrome
Labs: Hypochromic, microcytic anemia. Disease/Dx?
Iron deficiency anemia, lead poisoning, thalassemia (fetal hemoglobin sometimes present)
Labs: Increased AFP in amniotic fluid/maternal serum. Disease/Dx?
Dating error, anencephaly, spina bifida (neural tube defects)
Labs: Increased uric acid levels. Disease/Dx?
Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop and thiazide diuretics
Labs: Intranuclear eosinophilic droplet-like bodies. Disease/Dx?
Cowdry type A bodies (HSV or CMV)
Labs: Iron-containing nodules in alveolar septum. Disease/Dx?
Ferruginous bodies (asbestosis: inc chance of mesothelioma)
Labs: Keratin pearls on a skin biopsy. Disease/Dx?
Squamous cell carcinoma