Classic presentations/labs/path findings 1st aid Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari Syndrome-occlusion of IVC/hepatic veins
Achilles tendon xanthoma
Familial Hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Fredrichsen Syndrome (neisseria meningiditis)
Arachnodactyly, lens discoloration, aortic dissection, hyperflexible joints
Marfan Syndrome (fibrillin defect)
Back pain, fever, night sweats, weight loss
Pott’s Disease (TB)
Bilateral hilar adenopathy, uveitis, noncaseating granulomas
Sarcoidosis
Blue sclera
osteogenesis imperfecta (type 1 collagen)
Blue line on gingiva
Burton’s line-lead poisoning
Bone pain, bone enlargement, arthritis, chalkstick fractures
Pagets Disease of bone
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash, Raynaud’s in female
SLE
Cafe au lait spots, Lisch nodules (iris hamartoma)
NF type 1
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune Albright syndrome- mosaic G-protein signaling mutation
Calf pseudohypertrophy
duchenne muscular dystrophy-X linked recessive mutation of dystrophin
Cherry red spot on macula
Neimann Pick (sphingomyelin accumulation) or Tay Sachs (ganglioside accumulation) or central retinal artery occlusion
chest pain, pericardial effusion/friction rub, persistent fever following an MI
Dressler syndrome (autoimmune post-MI fibrinous pericarditis)
Child used arms to stand up from squat
Gower sign-DMD
Child with fever, develops red rash on face
Slap cheek fever- Parvovirus B19 (erythema infectiosum, 5th disease)
Chorea, dementia, caudate degeneration
Huntington Disease- CAG repeats
Exercise intolerance with myalgia, fatigue, painful cramps and myoglobinuria
McArdle’s Disease (muscle glycogen phosphorylase deficiency)
Conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF) bilateral= MS, unilateral=stroke
continuous machinery murmur
PDA-can close with indomethacin, keep open with misopristol
cutaneous dermal edema due to connective tissue deposition
myxedema
Dark purple skin/mouth nodules
Kaposi Sarcoma HHV8
Deep, labored breathing/hyperventilation
Kussamaul breathing-DKA
Dermatitis, Dementia, Diarrhea, Death
Pellagra: Niacin (B3) deficiency
dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet Beriberi: thiamine (B1) deficiency
dry eyes, dry mouth, arthritis
Sjrogrens syndrome-destruction of exocrine glands
Dysphagia (esophageal webs), glossitis (beefy red tongue) and iron deficiency anemia
Plummer Vinson syndrome
Elastic skin, joint hypermobility
Ehlers-Danlos (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchows node- abdominal metastasis
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells (cerebriform nuclei and Pautrier microabcesses)
Sezary syndrome/Mycosis fungoides
facial muscle spasm upon tapping nerve
Chovsteks sign: indicates hypocalcemia
fever, chills, headache, myalgia following abx treatment for syphillis
Jarisch-Herxheimer reaction: rapid lysis of spirochetes resulting in toxin release)
fever, cough, conjunctivitis, choryza, rash
Measles (paramyxovirus)
fibrous plaques in soft tissue of penis
Peyronie’s Disease (connective tissue disorder)
gout, mental retardation, self mutilation behavior in young boy
Lesch Nyhan syndrome: HGPRT deficiency
Hamartomatous GI polyps, hyperpigmentation of the mouth, feet and hands
Peutz-Jeuger syndrome, increased risk of colon CA
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency
Hereditary nephritis, sensineuronal hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)
Hyperphagia, hypersexuality, hyperorality, docile
Kluver Bucy syndrome-bilateral amygdala lesion
Hyporeflexia, atrophy, hypotonia, fasiculations
LMN injury
Hypoxemia, polycythemia, hypercapnia
chronic bronchitis, “Blue bloater” hyperplasia of mucus cells
infant with cleft lip/palate, microcephaly or holoprocencephaly, polydactyly, cutis aplasia
Patau syndrome: trisomy 13
infant with failure to thrive, hepatosplenomagaly, neurodegeneration
Neimann-Pick (sphingomyleinase deficiency)
Infant with hypoglycemia, failure to thrive, hepatomegaly
Cori’s disease (debranching enzyme deficiency)
infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
jaundice, palpable distended GB
Courvoisiers sign (distal obstruction of biliary tree)
lucid interval after traumatic head injury
Epidural hematoma (MMA rupture)
Boy, recurrent infections, no mature B cells
Bruton’s X linked agammaglobulinemia)
mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (lack of Gp IIb/IIIa)
muffled heart sounds, JVD, hypotension
Beck’s triad for cardiac tamponade
multiple colon polyps, osteomas, impacted teeth
Gardener’s syndrome (type of familial adenomatous polyposis)
myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
oscillating slow/fast breathing
Cheyenne-stokes (central apnea in CHF or increased ICP)
painful blue digits, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by mycolpasma pneumo and infectious mononucleosis)
painful red, raised lesions on pads of fingers and toes
Osler’s nodes (infective endocarditis)
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli)
palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria in a child
Henoch Schonlen purpura usually following viral illness
pancreatic, pituitary and parathyroid tumor
MEN 1
periorbital, peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
emphysema “pink puffer”
centriacinar=smoking
panacinar=alpha 1 AT deficiency
polyuria, renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome (proximal tubular reabsorbtion defect)
pruritic, purple, polygonal planar papules and plaques (6 p’s)
Lichen planus
ptosis, miosis, anhidrosis
Horner’s syndrome (sympathetic chain lesion)
pupil accommodates but does not react
Argyll Robertson pupil (neurosyphillis)
rapidly progressive leg weakness that ascends following GI/URI infection
Guillian Barre syndrome-acute autoimmune inflammatory demyelinating peripheral neuropathy
ddx for rash on palms and soles
Coxsackie A, Secondary syphillis, RMSF
recurrent colds, unusual eczema, high serum IgE
Job syndrome: hyper IgE, neutrophil chemotaxis abnormality
currant jelly sputum in alcoholic or diabetic pts
Kleb pnuemo
currant jelly stools
Intussusception in kids or acute mesenteric ischemia in adults
red urine in the morning, fragile RBC’s
Paroxysmal nocturnal hempglobinuria
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel Lindau disease (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)
short stature, increased incidence of tumors and leukemia, aplastic anemia
Fanconi’s anemia (loss of DNA crosslink repair, progresses to AML)
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome (dyenin arm defect in cilia)
skin hyperpigmentation, hypotension, fatigue
Addison’s Disease (primary adrenocortical insufficiency)
small, irregular red spots on buccal mucosa with blue/white centers
Koplik spots (measles, sometimes rubeola)
splinter hemorrhages in nails
bacterial endocarditis
streak ovaries, congenital heart disease, horseshoe kidney, short, webbed neck, lymphedema
Turner Syndrome (45 XO)
swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vit C deficiency) can’t hydroxylate proline/lysine for collagen synthesis
systolic ejection murmur (crescendo-decrescendo)
aortic valve stenosis
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A
Thyroid tumor, pheochromocytoma, ganglioneuromatosis
MEN2B
unilateral facial droop involving forehead
Facial nerve palsy (LMN)
urethritis, conjunctivitis, arthritis in males
Reiter’s syndrome; reactive arthritis HLA-B27
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (tropheryma whipplei)
“worst headache of my life”
subarachnoid hemorrhage (berry aneurysm)
Anti-centromere antibodies
Scleroderma
Anti-glomerular basement membrane antibodies
Goodpasture’s syndrome (glomerulonephritis and hemoptysis)
Anti-histone antibodies
Drug induced SLE (hydralazine, procainamide, isoniazid, phenytoin)
Anti-IgG antibodies
Rheumatoid Arthritis
Anti-mitochondrial antibodies
Primary biliary cirrhosis
Anti-neutrophil cytoplasmic antibodies (ANCA)
Vasculitis (c-ANCA=granulomatosis with polyangitis-Wegener’s) (p-ANCA=microscopic polyangitis-Churg Strauss)
Antinuclear antibodies (anti-smith and anti-dsDNA)
SLE
antiplatelet antibodies
Idiopathic thrombocytopenic purpura
Anti-topoisomerase antibodies
Diffuse systemic scleroderma
Anti-transglutaminase/anti-gliadin/anti-endomysial antibodies
Celiac disease
Apple core lesion on abdominal x-ray
colorectal cancer (left sided)
azurophilic peroxidase positive granular inclusions in granulocytes and myeloblasts
Auer rods (AML)
Bacitracin response
Sensitive: strep pyogenes
Resistant: strep agalactiae
Bamboo spine on x-ray
ankylosing spondylitis (HLA-B27)
Calcineurin inhibitor, prevents production of IL2, Tx to suppress organ transplant rejection. SE: nephrotoxcity, gingival hyperplasia, peripheral neuropathy, HTN, hyperlipidemia, hyperglycemia, tremor, hirsuitism
Cyclosporine
Calcineurin inhibitor binds to FK binding protein inhibiting secretion of IL2. Used in organ transplant recipients.SE: peripheral neuropathy, nephrotoxic, NO gingival hyperplasia and hirsuitism
Tacrolimus
Precursor of 6-MP, toxic to proliferating lymphocytes. Used in kidney transplantation and autoimmune disorders. SE: BM suppression and drug interaction with Allopurinol.
Azathioprine
monoclonal antibody: Antiplatelet agent, inhibits glycoprotein IIb/IIIa
Abciximab
monoclonal antibody: targets CD20 and used in regiment for non-hodgkins lymphoma.
Rituximab
monoclonal antibody: used in Crohn’s disease, RA, psoriatic arthritis and ankylosing spondylitis. Targets TNF alpha
Infliximab
X linked defect in B cell maturation; recurrent bacterial infections, low B cell count and decreased immunoglobulins of all classes.
Bruton’s X linked agammaglobulinemia
22q11 deletion, tetany, recurrent viral/fungal infections, congenital heart defects
DiGeorge syndrome (thymic aplasia)
Defective IL2 receptor, failure to thrive, chronic diarrhea, thrush, recurrent infections of any kind, absence of thymic shadow, B cells and germinal centers
SCID
Triad in Wiskott Aldrich syndrome
Thrombocytopenic purpura, Infections, Ezcema
Defect in lysosomal trafficking regulation, recurrent pyogenic infections, partial albinism and peripheral neuropathy
Chediak Higashi syndrome
lack of NADPH oxidase, absent respiratory burst in neutrophils, susceptability to catalase + bacteria like staph, Ecoli and aspergillus
Chronic granulomatous disease
5 type III HS reactions
SLE, Poststrep glomerulonephritis, serum sickness, arthrus reaction, polyarteritis nodosa
5 type IV HS reactions
PPD, GVHD, contact dermatitis, MS, Guillian Barre
major chemotactic factor for neutrophils
IL-8
stimulates growth of helper, cytotoxic and regulatory T cells
IL-2
function of C3b
opsonization
functions of C5b-C9
Membrane attack complex (deficiency=neisseria)
produced in primary response to antigen, fixes complement, does NOT cross placenta.
IgM
prevents attachments of bacteria and viruses to mucus membranes. monomer in circulation but dimer when secreted. found in secretions like tears, saliva and breastmilk
IgA
delayed response to antigen, fixes complement and can cross the placenta (provides infnt with passive immunity), opsonizes bacteria and neutralizes toxins and viruses
IgG
Psoriasis, ankylosing spondylitis, Reiter’s syndrome, IBD are associated with…
HLA-B27
Celiac disease is associated with HLA-
DQ2 and DQ8
MS, SLE and Goodpastures disease are assoc with HLA-
DR2
DM type 1 and Grave’s disease are associated with HLA-
DR3
Rheumatoid arthritis and DM type 1 are assoc with HLA-
DR4
Pernicious anemia and Hashimotos thyroiditis
DR5
Basophilic nuclear remnants in RBC’s
Howell Jolly bodies (sickle cell, asplenics, naphthalene, hereditary spherocytosis)
Basophilic stippling of RBC’s
lead poisoning or sideroblastic anemia
blood in a LP can indicate
subarachnoid hemorrhage
branching Gram positive rods with sulfur granules
Actinomyces israeli
Brown tumor of bone
Hyperparathyroidism which can cause osteitis fibrosis cystica (brown is from hemosiderin)
cardiomegaly with apical atrophy can be from this infection
Chagas disease: T. cruzi
cellular crescents in Bowman’s capsule
rapidly progressive crescenteric glomerulonephritis
“chocolate cyst” of ovary
endometriosis
circular grouping of dark tumor cells surrounding pale neurofibrils
Homer Wright rosettes (neuroblastoma, medulloblastoma, retinoblastoma)
decreased alpha-fetoprotein in amniotic fluid
Down Syndrome or chromosomal abnormailty
Degeneration of dorsal column nerves
Tabes doraslis (tertiary syphillis)
Desquamated epithelium casts in sputum
Curschmann’s spirals (bronchial asthma)
Enlarged thyroid cells with ground-glass nuclei
Orphan Annie’s eyes (papillary carcinoma)
eosinophilic cytoplasmic inclusion in liver cell
mallory bodies (alcohol liver disease)
eosinophilic cytoplasmic inclusion in nerve cell
Lewy body
eosinophilic globule in liver
Councilman body (toxic or viral hepatitis, yellow fever)
eosinophilic inclusion bodies in cytoplasm of hippocampal nerve cells
Negri bodies of Rabies
Giant B cells with bilobed nuclei with prominent “owls eye inclusions”
Reed-Sternburg cells; CD30, Hodgkin Lymphoma
crew-cut appearance on x-ray
Beta thalassemia, sickle cell
heterophile antibodies are found in
infectious mononucleosis (EBV only)
Hexagonal, needle like crystals in bronchial secretions
Charcot Leyden crystals found in bronchial asthma
high level of D-dimers indicates
DVT, PE, DIC
Hilar lymphadenopathy, peripheral granulomatous lesionmin middle or lower lung lobes which can calcify
Ghon complex (primary TB)
Honeycomb lung on X-ray or CT
interstitial pulmonary fibrosis
Hypercoagulability, leading to migratory DVT’s and vasculitis
Trosseau’s syndrome (adenocarcinoma of pancreas or lung)
hypersegmented neutrophils are found in
Megaloblastic anemia
Hypertension, hypokalemia, metabolic alkalosis indicate…
Conn’s syndrome
Hypochromic, microcytic anemia
Iron deficiency anemia, lead poisoning, thalassemia
increased alpha fetoprotein in the amniotic fluid can indicate
dating error, anencephaly, spina bifida or other neural tube defects
Increased uric acid levels are found in
gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop and thiazide diuretics
Iron containing nodules in the alveolar septum
Ferruginous bodies (asbestosis)
keratin pearls on a skin biopsy indicate
squamous cell carcinoma
Large lysosomal vesicles in phagocytes, immunodeficiency
Chediak-Higashi disease (failure of phagolysosome fusion)
Lead-pipe appearance of colon on barium x-ray
Ulcerative colitis
Linear appearance of IgG deposition on glomerular basement membrane is a diagnostic finding of
Goodpasture’s Disease
Low serum ceruloplasmin is a lab finding of
Wilson’s Disease
“lumpy bumpy” appearance of glomeruli on immunoflorescence
Poststreptococcal glomerulonephritis (complex deposition of IgG and C3b)
Lytic bone lesions on x-ray is characteristic of
multiple myeloma
monoclonal antibody spikes can be found in these 4 conditions
multiple myeloma
monoclonal gammopathy of undetermined significance (MGUS)
Waldenstrom’s macroglobulinemia (IgM only)
Primary amyloidosis
narrowing of bowel lumen on barium x-ray represents
“string sign” in Crohn’s disease
Necrotizing vasculitis in lungs and necrotizing glomerulonephritis are found in
Granulomatosis with polyangitis (Wegener’s c-ANCA) and Goodpasture’s syndrome (anti-basement membrane ab’s)
needle shaped, negatively birefringent crystals are found in
Gout
nodular hyaline deposits in glomeruli
Kimmelsteil Wilson nodules (diabetic nephropathy)
Classify bacteria based on novobiocin response
Sensitive: Staph epidermis
Resistant: Staph saprophyticus
Nutmeg appearance of liver found in
Chronic passive congestion of liver due to right-sided heart failure
“onion skin” periosteal reaction
Ewing’s sarcoma; malignant round cell tumor
Classify bacteria based on Optochin response
Sensitive: Strep pneumo
Resistant: Viridians strep
Periosteum raised from bone creating a triangular area on x-ray
Codman’s triangle: seen in Ewing sarcoma, osteosarcoma and pyogenic osteomyelitis
Podocyte effacement or fusion on electron microscopy of glomerular basement membranse indicate
Minimal change disease (child with nephrotic syndrome)
psammoma bodies are found in these 4 conditions
Meningiomas
papillary thyroid carcinoma
mesothelioma
papillary serous carcinoma of ovary/endometrium
pseudopalisating tumor cells on brain biopsy are found in this type of cancer
glioblastoma multiforme
RBC casts in urine are indicative of
acute glomerulonephritis
rhomboid crystals, positively birefringent are found in
pseudogout
rib notching on x-ray is a sign of
aortic coarctation
Ring enhancing brain lesions are found in these 2 diseases:
Toxoplasma gondii and CNS lymphoma
sheets of medium sized lymphoid cells with scattered pale macrophages on histology “starry sky”
Burkitt’s lymphoma; t8:14 which activated c-myc. Assoc with EBV
Silver staining spherical aggregation of tau proteins in neurons
Pick bodies (Pick’s disease; progressive dementia, personality changes)
“soap bubble” in femur or tibia on x-ray
Giant cell tumor of bone (generally benign)
“spikes” on basement membrane of glomerulus and “dome like” subepithelial deposits
Membranous glomerulonephritis
stippled vaginal epithelial cells, AKA “clue cells” are found in
Gardnerella vaginalis
“tennis racket” shaped cytoplasmic organelles in Langerhans cells are found in
Langerhan histiocytosis (Birbeck granules)
Thrombi made with white/red layers
Lines of Zahn (arterial thrombus) indicate flow
“thumb sign” on lateral x-ray is indicative of
Epiglottititis (H. influenzae)
Tram-track appearance of capillary loops of glomerular basement membrane on light microscopy
Membranoproliferative glomerulonephritis
“wire loop” glomerular capillary appearance on light microscopy
Lupus nephropathy