classic presentations Flashcards
abdominal pain, ascites, hepatomegaly
budd-chiari syndorme (poshepatic venous thrombosis)
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
clostridium difficili infection
achilles tendon xanthoma
familial hypercholesterolemia
adrenal hemorrhage, hypotension, DIC
waterhouse-friderichsen syndrome
anaphylaxis following blood transfusion
IgA deficiency
anterior drawer sign positive
anterior cruciate ligament injury
arachnodactylyl, lens dislocation upward, aortic dissection, hyperflexible joints
marfan syndrome
athlete with polycythemia
secondary to erythropoietin injection
back pain, fever, night seats
pots disease (vertebral TB)
bilateral acoustic schwannomas
neurofibromatosis type 2
bilateral hilar adenopathy, uveitis
sarcoidosis
black eschar on face of patient with diabetic ketoacidosis
mucor or rhizopus fungal infection
blue sclera
osteogenesis imperfecta (type 1 collagen defect)
bluish line on gingiva
burton line (lead poisoning)
bone pain, bone enlargement, arthritis,
Paget disease of bone (incr osteoblast and clast activity)
bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
aortic regurgitation
butterfly facial rash and raynaud phenomenon in young female
SLE
cafe-au-alit spots (U/L), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
mccune-albright syndrome (mosaic G-protein signaling mutation)
cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
kawasaki disease
cherry red spots on macula
tay-sacks or niemann-pick, central retinal artery occlusion
chest pain, pericardial effusion/friction rub, persistent fever following MI
dressler syndrome
child uses arms to stand up from squat
duchenne muscular dystrophy (towers sign)
child with fever later develops red rash on face that spreads to body
erythema infectiosum/fifth disease (caused by parvovirus B19)
chorea, dementia, caudate degen
huntington disease
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
internuclear ophthalmoplegia
continous machine like heart murmur
PDA
cutaneous/derma edema due to connective tissue deposition
myxedema (d/t hypothyroid, graves); usually pretibial
cutaneous flushing, diarrhea, bronchospasm
carcinoid syndrome
dark purple skin/mouth nodules patient with AIDS
KAPOSI sarcoma
deep, labored breathing/hyperventilation
diabetic ketoacidosis (kussmaul respirations)
dermatitis, dementia, diarrhea
pellagra (niacin deficiency)
dilated cardiomyopathy, edema, alcoholism, or malnutrition
wet beriberi (thiamine deficiency)
dry eyes, dry mouth, arthritis
sjogren syndrome (autoimmune destruciton of exocrine glands)
dysphagia (esophageal webs), glossitis, iron deficiency anemia
plummer-vinson syndrome
enlarged, hard left supraclavicular node
virchow node (abdominal metastasis)
episodic vertigo, tinnitus, hearing loss
Meniere disease
erythrooderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
mycosis fungicides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis + malignant T cells in blood)
facial muscle spasm upon tapping
chvostek sign (hypocalcemia)
fat, female, forty, and fertile
cholelithiasis (gallstones)
fever, chills, headache, myalgia following antibiotic treatment for syphilis
jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
fever, cough, conjunctivitis, coryza, diffuse rash
measles
fever, night sweats, weight loss
B symptoms of lymphoma
fibrous places in soft tissue of penis with abnormal curvature
peyronie disease (connective tissue disorder)
golden brown rings around peripheral cornea
wilson disease
gout, intellectual disability, self-mutiliatin behavior in a boy
Lesch-nyhan syndrome (HGPRT deficiency)
hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
peutz-Jeghers syndrome (inherited, benign polyposis)
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
gaucher disease
hereditary nephritis, sensorineural hearing loss, cataracts
alport syndrome (type IV collagen defect)
hyperphagia, hyper sexuality, hyperorality, hyperdociliy
kluver-bucy syndrome (B/L amygdala lesion)
hyperreflexia, hypertonia, babinski sing present
UMN damage
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
hypoxemia, polycythemia, hypercapnia
chronic bronchitis
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
patau syndrome (trisomy 13)
infect with hypoglycemia, hepatomegaly
cori disease (debranching enzyme def) or von gierke disease (G6PD def)
infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
edwards syndrome (trisomy 18)
jaundice, palpable distended non-tender gallbladder
courvoisier sign (distal malignant obstruction of biliary tree)
lucid interval after traumatic brain injury
epidural hematoma
male child, recurrent infections, no mature B cells
bruton disease (X-linked agammaglobulinemia)
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/sup/ernumerary teeth
gardner syndrome (Subtype of FAP)
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
pompe disease (alpha 1,4 glucosidase def)
no lactation postpartum, absent menstruation, cold intolerance
sheehan syndrome
nystagmus, intention tremor, scanning speech, B/L internuclear ophthalmoplegia
multiple sclerosis
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolysis d/t M. pneumonia, IM, or CLL)
painful fingers/toes chaining color from white to blue to red with cold or stress
raynaud phenomenon
painful, raised red lesions on pads of fingers/toes
osler nodes
painless erythematous lesions on palms and soles
janeway lesion
painless jaundice
cancer of the pancreatic head obstructing bile duct
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
henoch-schonlein purpurn (IgA vasculitis)
pancreatic, pituitary, parathyroid tumors
MEN1
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
emphysema or alpha 1 antitrypsin def
polyuria, renal tubular acidosis type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi snydorme (multiple combined dysfunction of prox convoluted tubule)
pruritus purple, polygonal planar papules and plaques
lichen planus
ptosis, mitosis, anhidrosis
horner syndrome
pupil accommodates but doesn’t react
neurosyphilis (argyll robertson pupil)
rapidly progressive limb weakness that ascends following GI/URI
guillain-barre syndrome
rash on palms and soles
coxsachie A, secondary syphilis, rocky mountain spotted fever
recurrent cold (non inflamed) abscesses, unusual eczema, high serum IgE
hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
red currant jelly sputum in alcoholics or diabetics
klebsiella pneumoniae pneumonia
red currant jelly stools
acute mesenteric ischemia (adults), intussusception (children)
red, itchy, swollen rash of nipple/areola
paget disease of breast
red urine in morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
renal cell carcinoma (B/L), hemangioblastomas, angiomatosis, pheochromocytoma
von hippel landau disease
resting tremor, rigidity, akinesia, postural instability, shuffling gait
parkinson disease
retinal hemorrhages with pale centers
roth spots (bacterial endocarditis)
severe jaundice in neonates
crigler-najjar syndrome
several RLQ pain with palpation of LLQ
rovsing sign
short stature, cafe au late spots, thumb/radial defects, increased incidence of tumors/leukemias, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; progresses to AML)
single palmar crease
down syndrome
situs inversus, chronic sinusitis, bronchiectasis, infertility
kartagener syndrome (dynein arm defect affecting cilia)
skin hyperpigmenation, hypotension, fatigue
primary adrenocortical insufficiency (Addison’s) (incr ACTH and alpha-MSH)
slow, progressive muscle weakness in boys
Becker muscular dystrophy
small, irregular red spots on buccal/lingual mucosa with blue-white centers
koplike spots
smooth, moist, painless, wart-like white lesions on genitals
condylomata lata (secondary syphilis)
spilinter hemorrhages in fingernails
bacterial endocarditis
strawberry tongue
scarlet fever, kawasaki disease
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
turner syndrome
sudden swollen/painful big toe joint, tophi
gout
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (can’t hydroxylate proline/lysin for collagen)
swollen, hard, painful finger joints
osteoarthritis
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu-sydrome
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (RET mutation)
thyroid tumors, pheochromocytomas, ganglioneuromatosis
MEN 2B (RET mutation)
toe extension/fanning upon plantar scrap
babinski sign
urethritis, conjunctivitis, arthritis in male
reactive arthritis associated with HLA-B27
vascular birthmark (pot wine stain) on face
nevus flames
vomiting blood following gastroesophageal lacerations
mallory-weiss syndrome (alcoholic and bulimic patients)
weight loss, diarrhea, arthritis, fever, adenopathy
whipple disease (d/t T. whipplei infection)
worst headache of my life
subarachnoid hemorrhage
Calf pseudohypertrophy
muscular dystrophy (duchenne)
Elastic skin, hyper-mobility of joints, increased bleeding
Ehlers-Danlos (type V defect, III in vascular type)
Indurated, ulcerated genital lesion
painless: primary syphilis
painful w/exudate: H. ducreyi
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy; (superior trunk (C5-C6) brachial plexus injury); waiter’s tip