Classic presentations Flashcards
abdominal pain
ascites
HSM
budd-chiari syndrome (posthepatic venous thrombosis)
achilles tendon xanthoma
familial hypercholesterolemia
adrenal hemorrhage
DIC
hypotension
waterhouse-friderichsen syndrome (meningococcemia)
anterior drawer sign
ACL injury
arachnodactyly
lens dislocation
aortic dissection
hyperflexible joints
marfan syndrome (fibrillin defect)
athlete with polycythemia
epo injections
back pain
fever
night sweats
wt loss
pott disease (vertebral TB)
bilateral hilar adenopathy
uveitis
sarcoidosis (noncaseating granulomas)
blue sclera
OI (type I collagen defect)
bluish line on gingiva
burton line (lead poisoning)
bone pain
bone enlargement
arthritis
paget disease of bone (increased osteoblast, osteoclast activity)
bounding pulses
diastolic murmur
head bobbing
aortic regurgitation
butterfly facial rash
raynaud phenomenon
young female
SLE
cafe-au-lait spots lisch nodules (iris hamartoma)
NF1 (+ pheo, optic glioma)
cafe-au-lait spots
polyostotic fibrous dysplasia
precocious puberty
multiple endocrine shits
mccune-albright syndrome (mosaic G-protein signaling mutation)
calf pseudohypertrophy
muscular dystrophy (MC duchenne) - XLR dystrophin del
cherry red spots on macula
tay sachs (ganglioside accumulation, - HSM) or niemann pick (sphingomyelin accumulation, +HSM), central retinal occlusion
CP
pericardial effusion/friction rub
persistent fever s/p MI
dressler syndrome - fibrinous pericarditis, 1-12 weeks after MI
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
mcardle disease (muscle glycogen phosphorylase deficiency)
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
INO (damage to MLF, bilateral w/MS, unilateral w/stroke)
continuous machine-like murmur
PDA (close with indomethacin, maintain with misoprostol)
cutaneous/dermal edema 2/2 connective tissue deposition
myxedema (hypothyroidism, graves disease - pretibial)
dark purple skin/mouth nodules in pt with AIDS
kaposi sarcoma (HHV-8)
deep, labored breathing/hyperventilation
DKA
dermatitis
dementia
diarrhea
pellagra (niacin AKA vit B3 deficiency)
dilated cardiomyopathy
edema
alcoholism/malnutrition
wet beriberi (thiamine AKA B1 deficiency)
dog/cat bite resulting in infxn
cats = the worst
pasteurella multocida (cellulitis at inoculation site)
dry eyes
dry mouth
arthritis
sjogren syndrome (AI destruction of exocrine glands)
dysphagia (esophageal webs)
glossitis
Fe deficiency anemia
plummer-vinson syndrome (may progress to esophageal squamous cell carcinoma)
elastic skin
hypermobility of joints
ehrlos danlos syndrome (type III collagen defect)
enlarged, hard left supraclavicular node
virchow node (abdominal metastasis)
erythroderma
lymphadenopathy
HSM
atypical T cells
mycosis fungoides (cutaneous T cell lymphoma) or sezary syndrome (mycosis fungoides + malignant T cells in blood)
facial muscle spasm after tapping
chvostek sign (hypocalcemia)
fever chills HA myalgia recent abx tx for syphilis
jarisch-herxheimer rxn (rapid lysis of spirochetes results in toxin release)
fibrous plaques in soft tissue of penis
peyronie disease (connective tissue disorder)
gout
intellectual disability
self-mutilation
boy
lesch-nyan syndrome (HGPRT deficiency, XLR)
green-yellow rings around cornea
kayser-fleischer rings (copper accumulation, wilson disease)
hamarthromatous GI polyps, hyperpigmentation of mouth/hands/feet
peutz-jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, increased cancer risk, mainly GI)
HSM
osteoporosis
neuro sxs
gaucher disease (glucocerebrosidase deficiency)
hereditary nephritis
sensorineural hearing loss
cataracts
alport syndrome (collagen IV)
hyperphagia
hypersexuality
hyperorality
hyperdocility
kluver-bucy syndrome (bilateral amygdala lesion, assoc w/HSV1)
infant w/cleft palate, microcephaly/holoprosencephaly, polydactyly, cutis aplasia
patau syndrome (trisomy 13)
infant w/FTT, HSM, neurodegeneration
niemann-pick (sphingomyelinase deficiency)
infant w/hypoglycemia
FTT
hepatomegaly
cori disease (debranching enzyme deficiency) or von gierke disease (g-6-phosphatase deficiency, more severe)
infant w/microcephaly
rocker bottom feet
clenched hands
structural heart defect
edwards syndrome (trisomy 18)
jaundice
palpable distended non-tender gallbladder
courvoisier sign (distal obstruction of biliary tree, probably not good)
male child
recurrent infxns
no mature B cells
bruton disease (X linked agammaglobulinemia)
mucosal bleeding and prolonged bleeding time
glanzmann’s thrombasthenia (defect in platelet aggregation due to GpIIb/IIIa deficiency)
muffled heart sounds
distended neck veins
hypotension
beck triad - cardiac tamponade
multiple colon polyps, osteoma/soft-tissue tumors, impacted/supernumerary teeth
gardner syndrome (subtype of FAP)
myopathy (infantile hypertrophic cardiomyopathy), excercise intolerance
pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
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 syndrome
oscillating fast/slow breathing
cheyne-stokes respirations (central apnea in CHF or ICP)
painful blue fingers/toes
hemolytic anemia
cold agglutinin disease (AIHA c/b mycoplasma pneumoniae, infectious mononucleosis)
painful, pale, cold fingers/toes
raynaud (vasospasm in extremities)
painful, raised red lesions on pad of fingers/toes
osler nodes (infective endocarditis, immune complex deposition)
painless erythematous lesions on palms, soles
janeway lesions (infective endocarditis, septic emboli/microabscesses)
painless jaundice
cancer of pancreatic head obstructing bile duct
palpable purpura on buttocks/legs, joint pain, abd pain (child), hematuria
henoch-schonlein purpura (IgA vasculitis affecting skin and kidneys)
tumors of…
pancreas
pituitary
parathyroid
MEN1 (AD)
periorbital and/or peripheral edema
proteinuria
hypoalbuminemia
hypercholesterolemia
nephrotic syndrome
polyuria RTA type II growth failure electrolyte imbalances hypophosphatemic rickets
fanconi syndrome (proximal tubular reabsorption defect)
pruritic, purple, polygonal planar papules and plaques
Lichen planus (6 Ps)
rash on palms and soles
coxsackie A
secondary syphilis
RMSF
recurrent colds
unusual eczema
high serum IgE
Job syndrome (hyper IgE, neutrophil chemotaxis abnormality)
red “currant jelly” stools
acute mesenteric ischemia (adults)
intussusception (infants)
red, itchy, swollen rash of nipple/areola
paget disease of the breast (suggests underlying neoplasm)
red urine in morning
fragile RBCs
PNH
renal cell carcinoma (bilateral)
hemangioblastomas
angiomatosis
pheo
von hippel-lindau disease (dominant tumor suppressor gene mutation)
retinal hemorrhage with pale centers
roth spots (bacterial endocarditis)
severe jaundice in neonate
crigler-najjar syndrome (congenital unconjugated hyperbili)
short stature
increase incidence of tumors/leukemia
aplastic anemia
fanconi anemia (genetic loss of DNA crosslink repair, often progresses to AML)
single palmar crease
down syndrome
situs inversus
chronic sinusitis
bronchiectasis
infertility
kartagener syndrome (dynein arm defect affecting cilia)
skin hyperpigmentation
hypotention
fatigue
addison disease (primary adrenocortical insufficiency causes increased ACTH and alpha-MSH production)
slow, progressive muscle weakness in boys
becker muscular dystrophy (x-linked missense mutation in dystrophin, less severe than duchenne)
small, irregular red spots on buccal/lingual mucosa with blue-white centers
koplik spots (measles - rubeola virus)
smooth, flat, moist, painless white lesions on genitals
condylomata lata (Secondary 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 swollen painful big toe joint, tophi
gout/podagra (hyperuricemia)
swollen gums
mucosal bleeding
poor wound healing
petechiae
scurvy (vit C deficiency)
cant hydroxylate proline/lysine for collagen synthesis
swollen, hard, painful, finger joints
osteoarthritis (osteophytes on PIP bouchard nodes; DIP heberden nodes)
tumors of…
thyroid
parathyroid
pheo
MEN2A (AD ret mutation)
thyroid tumors
pheo
ganglioneuromatosis
MEN2B (AD ret mutation)
vascular birthmark (port-wine stain)
hemangioma (benign, but associated with sturge-weber syndrome)
wt loss diarrhea arthritis fever adenopathy
whipple disease (tropheryma whipplei)
