classic presentations Flashcards
abdominal pain, ascites, hepatomegaly
Budd-Chiara syndrome (post hepatic venous thrombosis)
abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. diff infection
achilles tendon xanthoma
familial hypercholesterolemia (decreased LDL receptor signaling)
adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
anaphylaxis following blood transfusion
IgA deficiency
Positive anterior drawer sign
anterior cruciate ligament injury
arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillar defect)
athlete with polycythemia
secondary to erythropoietin injections
back pain, fever, night sweats
Post 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 1 collagen defect)
bluish line on gingiva
Burton line (lead poisoning)
bone pain, bone enlargement, arthritis
Paget disease of bone (increased osteoblastic and osteoclastic activity)
bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
aortic regurgitation
butterfly facial rash and Raynaud phenomenon in a young female
systemic lupus erthematosus
cafe-au-lait spots, Lisch nodes (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas
neurofibromatosis type 1
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, hand-foot changes
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: with moderate exertion; unstable: 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 weeks to several months after acute episode)
chest pain with ST depressions on EKG
unstable angina (negative troponin) or NSTEMI (positive troponin)
child uses arms to stand up from squat
Duchenne muscular dystrophy (Gowers sign)
child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease (“slapped cheeks” appearance, cased by 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
internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
continuous “machine-like” heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
cutaneous/dermal edema due to connective tissue deposition
myxedema (caused by hypothyroidism, Graves disease) (pretibial)
cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA)
drank purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
deep, labored breathing/hyperventilation
diabetic ketoacidosis (Kussmaul respirations)
dermatitis, dementia, 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, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
elastic skin, hyper mobility of joints, 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 + malignant T cells in blood)
facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
fat, female, forty, fertile
cholelithiasis (gallstones)
fever, chills, 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) or lymphoma
fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
hyperphagia, hyper sexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
hyperreflexia, hypertonia, Babinski sign present
UMN damage
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
hypoxemia, polycythemia, hypercapnia
chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)
indurated, ulcerated genital lesion
non painful: chancre (primary syphilis, Treponema pallidum)
painful, with exudate: chancroid (Haemophilus ducreyi)
infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
infant with hypoglycemia, 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 malignant 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 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/supernumerary teeth
Gardner syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompey 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 (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 pneumonia, infectious mononucleosis, CLL)
painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
painless jaundice
cancer of the pancreatic head obstructing the 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
MEN1 (autosomal dominant)
periorbital and/or peripheral edema, proteinuria (>3.5 g/day), hypoalbuninemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
emphysema (“pink puffer,” centriacinar [smoking] or panacinar [alpha-1 antitrypsin deficiency])
polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
pupil accommodates but doesn’t react
neurosyphilis (Argyll Robertson pupil)
rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillan-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
rash on palms and soles
coxsackie A, secondary syphilis, Rocky Mountain Spotted Fever
recurrent cold (non inflamed) abscesses, 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 pneumonia
red “currant 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), hemanigoblastomas, 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 substantial nigra pars compacta)
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
severe jaundice in neonate
Crigler-Nijjar syndrome (congenital unconjugated hyperbilirubinemia)
severe RLQ pain with palpation of LLQ
Roving sign (acute appendicitis)
severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Falcon 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 hyper pigmentation, hypotension, fatigue
primary adrenocortical insufficiency (eg, Addison disease) causes increased ACTH and increased 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
Kopek spots (measles [rubeola] virus)
smooth, moist, painless, wart-like white lesion on genitals
condylomata lata (secondary syphilis)
splinter 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 (45, XO)
sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
swollen gums, mucosal bleeding, poor wound healing, petechiae
scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
telangiectasis, 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 tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
toe extension/fanning upon plantar scrape
Babinksi 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 face
Nevus flames (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 whipplei)
“worst headache of my life”
subarachnoid hemorrhage
