First Aid Rapid Review Classic Presentations Flashcards
Abdominal pain, Ascites, Hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolimia (decrease LDL receptor signaling)
Adrenal hemorrhage, hypOtension, DIC
Waterhouse-Friderichsen syndrome (menigococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s Syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to EPO injection
Back pain, fever, night sweats, weight loss
Pott’s Disease (vertebral Tb)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (Type 1 collagen defect)
Bluish line on gingiva
Burtons line = lead poisoning
Bone pain, bone enlargement, arthritis
Paget’s Disease of the Bone (increase osteoblastic and osteoclastic activity)
Bounding Pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly rash and Raynauds phenomenon in young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis Type 1 (+pheochromocytoma, optic gliomas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchennes): X-linked recessive deletion of dystrophin gene
“Cherry-red spot” on macula
Tay-Sachs (ganglioside accumulation) OR
Niemann-Pick (sphingomyelin accumulation); central retinal artery occlusion
Chest pain on exertion
Angina (Stable: with moderate exercise; unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s Syndrome (AI-mediated post-MI fibrinouse pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from a squat
Gower’s Sign = they prob have Duchenne’s MD
Child with fever later develops red rash on face that spreads to body
“Slapped Cheeks”= erythema infectiosum/fifth disease = Parvovirus B19
Chorea, dementia, caudate degeneration
Huntingtons Disease (AD CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdles Disease (muscle glycogen phosphorylase deficiency)
Cold Intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Intranuclear ophthalmoplegia (damage to MLF; bilateral=MS, unilateral = stoke)
Continuous “machinery” heart murmur
Patent ductus arteriosus (close with indomethacin, keep open with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves’ disease=pretibial)
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS patients, associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet Beriberi (thiamine [B1] deficiency)
Dog or cat bite resulting in Infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjorgens syndrome (AI 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
gall stones
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
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation in Wilson’s)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increase cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski skin present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
“Blue Bloater” (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (1 syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori’s diesease (debranching enzyme deficiency)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward’s syndrome (trisomy 18)
Jaundice, palpable distended non-tender gall bladder
Courvoiser’s sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
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 thombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
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 a-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: waiters tip)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome (pituitary blew up (infarction))
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
Oscillating fast/slow breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure) [basically gonna die probs]
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 phenomenon (vasospasm in extremities)
Painful, raised red lesions on pad of fingers/toes
Osler’s node (infective endocarditis, immune complex depostition)
Painful erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Painless jaundice
Cancer of pancreatic head obstructing bile duct
Palpable purpura on butt/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink Puffer” (emphysema: centriacinar [smoking], panacinar [a1 antitrypsin deficiency])
Poluria, renal tubular acidosis Type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome (proximal tubular reabsorption defect)
Positive anterior “drawer sign”
ACL injury
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
Ptosis, miosis, anhidrosis
Horner’s syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute AI inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A, 2 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 “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/areola
Pagets disease of the breast (represents underlying neoplasm)
Red urine in the morning, fragile RBC’s
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
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing’s sign (acute appendicitis)
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
Simian crease (Down’s syndrome)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
Addison’s disease (1 adrenocortical insuficiency causes increase ACTH, and increase a-MSH production)
Slow, progressive muscle weakness in boys
Becker’s muscular dystrophy (X linked 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, painless white lesions on genitalia
Condylomata lata (2 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, short stature, webbed neck, lymphedema
Turner Syndrome (45 XO)
Sudden swolled/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joint
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, ganglioneuromatosis
MEN2B (AD ret mutation)
Toe extension/fanning upon plantar scrape
Babinksi Sign (UMN lesion)
Unilateral facial drooping involving forehead
Facial Nerve (LMN CN VII 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 esophageal lacerations
Mallory-Weiss tears (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s disease (Tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage