Classic presentations Flashcards
Abdominal pain, ascites, and hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficle infection.
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, and DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior drawer sign
Anterior cruciate ligament injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to erythropoietin injection.
Back pain, fever, and night sweats
Pott disease (vertebral TB).
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection.
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, and arthritis
Paget disease of bone (increased osteoblastic and osteoclastic activity).
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash and Raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas, pheochromocytoma, and optic gliomas
Neurofibromatosis type 1, pheochromocytoma, optic gliomas.
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation).
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne due to x-linked recessive frameshift mutation of dystrophin gene).
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue
Kawasaki disease (treat with IVIG and aspirin)
Cherry red spots on macula
Tay-Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Angina (stable if it occurs with moderate exertion; untable with minimal exertion or at rest.
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune mediated post-MI fibrinous pericarditis, 2-12 weeks after an acute episode).
Chest pain with ST depressions on EKG
unstable angina (troponin is negative) or NSTEMI (troponin is positive).
Child uses arms to stand up from a squat
Gowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body
Slapped checks (erthema infectiosum/ fifth disease, parvovirus B19).
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion).
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency).
Cold intolerance
Hypothyroidism
Conjugate horizontal gaze palsy, horizontal diplopia
Intermuclear ophthalmoplegia (damage to MLF, it may be unilateral or bilateral).
Continuous machine like murmur
PDA (close with indomethacin, maintain open with PGE analogs)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial]).
Cutaneous flushing, diarrhea, and bronchospasm
Carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA).
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, it is associated with HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis).
Dermatitis, dementia, and diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, and arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma).
Elastic skin, hypemobility of joints, and increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED).
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells.
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides plus malignant T cells in blood).
Facial muscle spasm upon tagging
Chvostek sign (hypocalcemia)
Fat, female, forty, and fertile
Choelithiasis (gallstones)
Fever, chill, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin 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 with abnormal curvature
Peyronic disease (connective tissue disorder)
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease).
Gout, intellectual disability, self mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, x-linked recessive).
Hartomatous GI polyps, hyperpigmentation of mouth/ feet/ hands/ genitalia
Peutz Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction). There is also an increase risk of cancer, mostly GI.
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, and bone crisis
Gaucher disease (glucocerbrosidase deficiency).
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonis, Babinski sign is present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis, hyperplasia, of mucous cells)
Nonpainful, indurated, ulcerated genital lesion
Primary syphilis, Treponemia pallidum.
Painful, indurated, ulcerated genital lesion with exudate
Chancroid (Haemophilus ducreyi)
Infant with cherry red spot on macula, hepatosplenomegaly, and neurodegeneration
Niemann Pick disease (genetic sphingomyelinase deficiency)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactly, cutis aplasia.
Patau syndrome (trisomy 13)
Infant with hypoglycemia and hepatomegaly
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
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of the biliary tree)
Large rash with bull’s appearance
Erythema chronicum migrans from Ixodes tick bite (lyme disease is cause by Borrelia).
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (x-linked agammaglobulinema)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa).
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade.
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeray teeth
Gardner syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1, 4 glucosidase deficiency).
Neonate with arm paralysis following a difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury, waiter’s tip)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
Painful blue fingers/ toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
Painful finger/toes changing color from blue to white to red
Raynaud phenomenon (vasospasm in extremities)
Painful raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complexes deposition).
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/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 is caused by smoking, while panacinar is caused by alpha 1 antitrypsin deficiency.
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalance, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule).
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus.
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Argyll Robertson pupil (neurosyphilis).
Rapidly progressive limb weakness that ascends following GI/URI
Guillain Barre syndrome (acute inflammatory demyelinating polyradiculpathy subtype.
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome, neutrophil chemotaxis abnormalities).
Red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Red current jelly stools
Acute mesenteric ischemia (adults), intussusception (children).
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of 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, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta.
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Short stature, cafe au lait spots, thumb/ radial defects, increased incidence of tumors/ leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA cross linked repair, often progresses to AML).
Single palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, and infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, and fatigue
Primary adrenocortical insufficiency (eg Addison disease) causes an increase in ACTH and an increase in alpha-MSH production).
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (x-linked missense mutation in dystrophin; it is less severe than Duchenne).
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles and rubeola virus)
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata (secondary syphilis).
Splinter hemorrhages in fingernails
Bacterial endocarditis
Strawberry tongue
Scarlet fever, Kawaski disease
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, and lymphedema
Turner syndrome (45, XO)
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency, preventing hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes].
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding hematuria
Osler-Weber Rendu syndrome
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
Thyroid tumor, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation).
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead.
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27.
Vascular birthmark (port wine stain) of the face
Nevus flammeus (benign, but associated with Sturge Weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever adenopathy
Whipple disease (Tropheryma whippei)
Worst headache of my life
Subarachnoid hemorrhage
Anticentromere antibodies
Scleroderma (CREST)
Anti-desmoglein (epithelial) antibodies
Pemphigus vulgaris (blistering)
Anti-glomerular basement membrane antibodies
Goodpasture syndrome (glomerulonephritis and hemoptysis)
Antihistone antibodies
Drug induced SLE (eg hydralazine, isoniazid, phenytoin, procainamide)
Anti-IgG antibodies
Rheumatoid arthritis (systemic inflammation, joint pannus, boutonniere deformity)
Antimitochondrial antibodies (AMAs)
Primary biliary cirrhosis (female, cholestasis, portal hypertension)
Antineutrophil cytoplasmic antibodies (ANCAs)
Microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome) (MPO-ANCA/ p-ANCA); granulomatosis with polyangiitis (Wegener; PR3-ANCA/ c-ANCA
Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA)
SLE (type III hypersensitivity)
Antiplatelet antibodies
Idiopathic thrombocytopenic purpura
Anti-topoisomerase antibodies
Diffuse systemic scleroderma
Anti-transglutaminase antibodies
Celiac disease (diarrhea and weight loss)
Anti-gliadin antibodies
Celiac disease (diarrhea and weight loss)
Anti-endomysial antibodies
Celiac disease (diarrhea and weight loss)
Apple core lesion on barium enema x-ray
Colorectal cancer (usually left sided)
Atypical lymphocytes
EBV
Azurophilic peroxidase positive granular inclusions in granulocytes and myeloblasts
Auer rods (AML, especially the promyelocytic [M3] type)
Sensitive to bacitracin
S. pyogens (group A)
Resistent to bacitracin
S. agalactiae (group B)
Bamboo spine on x-ray
Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27)
Basophilic nuclear remnants in RBCs
Howell-Jolley bodies (due to splenectomy or nonfunctional spleen)
Basophilic stippling of RBCs
Lead poisoning or sideroblastic anemia
Bloody or yellow tap on lumbar puncture
Subarachnoid hemorrhage
Boot-shaped heart on x-ray
Tetralogy of Fallot (due to RVH)
Branching gram positive rods with sulfur granules
Actinomyces israelii
Bronchogenic apical lung tumor on imaging
Pancoast tumor, which can compress the cervical sympathetic chain and cause Horner syndrome
Brown tumor of the bone
Hyperparathyroidism or osteitis fibrosa cystica (deposited hemosiderin from hemorrhage gives it its brown color).
Cardiomegaly with apical atrophy
Chagas disease (Trypanosoma cruzi)
Cellular crescents in the Bowman capsule
Rapidly progressive crescentic glomerulonephritis
Chocolate cyst of the ovary
Endometriosis (frequently involves both ovaries)
Circular grouping of dark tumor cells surrounding pale neurofibrils
Homer-Wright rosettes (neuroblastoma and medulloblastoma)
Colonies of mucoid Pseudomonas in lungs
Cystic fibrosis, which is autosomal recessive due to a mutation in CFTR gene leading to fat soluble vitamin deficiency and mucous plugs.
A decrease in AFP in amniotic fluid/maternal serum
Down syndrome or other chromosomal abnormalities.
Degeneration of dorsal column fibers
Tabes dorsalis (tertiary syphilis), subacute combined degeneration (dorsal columns, lateral corticospinal, spinocerebellar tracts are affected)
Delta wave on EKG, short PR interval, supraventricular tachycardia
Wolf-Parkinson-White syndrome (bundle of Kent bypasses AV node)
Depigmentation of neurons in the substantia nigra
Parkinson disease (basal ganglia disorderL rigidity, resting tremor, bradykinesia)
Desquamated epithelium casts in sputum
Curschmann spirals (bronchial asthma; can result in whorled mucous plugs)
Disarrayed granulosa cells arranged around collections of eosinophilic fluids
Call-Exner bodies (granulosa cell tumor of the ovary)
Dysplastic squamous cervical cells with raisinoid nuclei and hyperchromasia
Koilocytes (HPV predisposes to cervical cancer).
Electrical alternans (alternating amplitude on EKG)
Pericardial tamponade
Enlarged cells with intranuclear inclusion bodies
Owl eye appearance of CMV
Enlarged thyroid cells with ground glass nuclei with central clearing
Orphan Annie eyes nuclei (papillary carcinoma of the thyroid)
Eosinophilic cytoplasmic inclusion in liver cells
Mallory body (alcoholic liver disease)
Eosinophilic cytoplasmic inclusion in nerve cell
Lewy body (parkinson disease)
Eosinophlic globule in liver
Councilman body (viral hepatitis, yellow fever), represents hepatocyte undergoing apoptosis.
Eosinophilic inclusion bodies in the cytoplasm of the hippocampal and cerebellar neurons
Negri bodies of rabies
Extracellular amyloid deposition in gray matter of brain
Senile plaques (alzheimer disease)
Giant B cells with bilobed nuclei with prominent inclusions (owl’s eye)
Reed-Sternberg cells (Hodgkin lymphoma)
Glomerulus-like structure surrounding vessel in germcells
Schiller-Duval bodies (yolk sac tumor)
Hair on end (crew cut) appearance on x-ray
beta-thalassemia, sickle cell disease (marrow expansion)
hCG elevated
Choriocarcinoma, hydatidiform mole (occurs with and without embryo, and multiple pregnancy)
Heart nodules (granulomatous)
Aschoff bodies (rheumatic fever)
Heterophile antibodies
Infectious mononucleosis (EBV)
Hexagonal, double pointed, needle like crystals in bronchial secretions
Bronchial asthma (Charcot-Leyden crystals: eosinophilic granules).
High level of D dimers
DVT, PE, DIC
Hilar lymphadenopathy, peripheral granulomatous lesion in the middle or lower lung lobes (can calcify)
Ghon complex (primary TB: mycobacterium bacilli)
Honeycomb lung on x-ray or CT
Interstitial pulmonary fibrosis
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau syndrome (adenocarcinoma of the pancreas or lung).
Hypersegmented neutrophils
Megaloblastic anemia (B12 deficiency causes neurologic symptoms, while folate deficiency does not cause neurologic symptoms)
Hypertension, hypokalemia, metabolic alkalosis
Conn syndrome (primary hyperaldosteronism)
Hypochromic, microcytic anemia
Iron deficiency anemia, lead poisoning, thalassemia (fetal hemoglobin sometimes present).
Increased AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida (neural tube defects)
Increased uric acid levels
Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop and thiazide diuretics.
Intranuclear eosinophilic droplet like bodies
Cowdry type A bodes (HSV or VZV)
Iron-containing nodules in alveolar septum
Ferrunginous bodies (asbestosis, which increases the risk of mesothelioma)
Keratin pearls on a skin biopsy
Squamous cell carcinoma
Large granules in phagocytes, immunodeficiency
Chediak Higashi disease (congenital failure of phagolysosome formation)
Lead pipe appearance of the colon on abdominal imaging
Ulcerative colitis (loss of haustra)
Linear appearance of IgG deposition on glomerular and alveolar basement membranes
Goodpasture syndrome
Low serum ceruloplasmin
Wilson disease (hepatolenticular degeneration)
Lumpy bumpy appearance of glomeruli on immunofluorescence
Poststreptococcal glomerulonephritis (due to deposition of IgG, IgM, and C3)
Lytic (punched out) bone lesions on x-ray
Multiple myeloma
Mammary gland (blue domed) cyst
Fibrocystic change of the breast
Monoclonal antibody spike
Multiple myeloma (usually IgG or IgA). Monoclonal gammopathy of undetermined significance (MGUS consequence of aging). Waldenstrom (M protein=IgM) macroglobulinemia. Primary amloidosis.