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114 Cards in this Set

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Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome
(DVT in posthepatic circulation)
Resembles right heart failure but without jugular venous distention
Achilles tendon xanthoma
Familial hypercholesterolemia
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome
(meningococcemia)
Neisseria sepsis causes DIC
Hemorrhage -> crisis -> hypotension

Causes of DIC: Sepsis, Trauma, OB complications, Pancreatitis, Malignancy, Nephrotic syndrome, Transfusion
Mnemonic: STOP Making New Thrombi
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan's syndrome
(fibrillin defect)
Athlete with polycythemia
Erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott's disease
(vertebral tuberculosis)
Note "B symptoms"
Bilateral hilar adenopathy, uveitis
Sarcoidosis
(noncaseating granulomas)
What would caseating granulomas be?

TB!!
Blue sclera
Osteogenesis imperfecta
(type I collagen defect)
Bluish line on gingiva
Burton's line
(lead poisoning)
Bone pain, bone enlargement, arthritis
Paget's disease of bone
(inc. osteoblastic & osteoclastic activity)
Serum marker: alkaline phosphatase
Also seen by increased head circumference, fractures
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Listen here: http://www.wilkes.med.ucla.edu/Diastolic.htm
Or search on youtube
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

Neurofibromatosis type II (+ bilateral acoustic neuromas)
Iris hamartoma - normal tissue, but in excess
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
McCune-Albright syndrome
(mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy
(most commonly Duchenne's)
"Cherry red spot" on macula (3)
Tay-Sachs (ganglioside accumulation)

Niemann-Pick (sphingomyelin accumulation)

Central retinal artery occlusion
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's syndrome
(autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gowers' sign
(Duchenne muscular dystrophy - X-linked recessive deleted dystrophin gene)
Chorea, dementia, caudate degeneration
Huntington's disease
(autosomal-dominant CAG repeat expansion)
A disease of C's:

Chorea
Caudate atrophy
Crazy (dementia)
CAG repeat
decreased acetylCholine
Chronic exercise intolerance with myalgia, fatigue, painful cramps
McArdle's disease
(muscle phosphorylase deficiency)
Child with fever develops red rash on face that spreads to body
"Slapped cheeks"
(erythema infectiosum/fifth disease - parvovirus B19)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia
(damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Can abduct but eyes, but can't look laterally
Continuous "machinery" heart murmur
PDA
(close with indomethacin; open with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (hypothyroidism, Graves' disease)
Dark purple skin/ mouth nodules
Kaposi's sarcoma
(usu AIDS pts [gay men]: assoc w/HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing
(diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra
(niacin [VitB3] deficiency)
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi
(thiamine [VitB1] deficiency)
With just polyneuropathy -- dry beriberi
Dog or cat bite resulting in infxn
Pasturella multocida
(cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjögren's syndrome
(autoimmune destruction of exocrine glands)
"Can't see, can't spit, can't climb up shit"

Crude, but effective.
Dysphagia (esophageal webs), glossitis, Fe-deficiency anemia
Plummer-Vinson syndrome
(may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome
(collagen defect, usu type III)
Enlarged, hard left supraclavicular node
Virchow's node
(abdominal metastasis)
Usually in late stage of cancer
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sézary syndrome
(cutaneous T-cell lymphoma)

Mycosis fungoides
Facial muscle spasm upon tapping
Chvostek's sign
(hypoCa)
Another sign of hypoCa: aflatent tetany. Trousseau's sign - carpal spasm when blood pressure cuff is tightened
Fat, female, forty, & fertile
Acute chololithiasis
(bile duct blockage)
Fever, chills, headache, myalgia following Abx treatment for syphilis
Jarisch-Herxheimer reaction
(rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
(Morbillivirus)
The measles C's: Cough, Conjunctivitis, Coryza
Fever, night sweats, weight loss
B symptoms
(lymphomas)
Same symptoms as seen in TB
Fibrous plaques in soft tissue of penis
Peyronie's disease
(connective tissue disorder)
"Peyronie" makes the penis look like "Macaroni"

It's funny, because it's true.
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome
(HGPRT deficiency, X-linked recessive)
HGPRT deficiency affects purine salvage pathway
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings
(Cu accumulation from Wilson's dz)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
(genetic benign polyposis can cause bowel obstruction; inc. cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's dz
(glucocerebrosidase deficiency)
"crinkled tissue paper" cytoplasm
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome
(type IV collagen mutation)
Mnemonic: ABCDE

Alport's syndrome
Blood in pee, Basket weave pattern on basement membrane, in Boys (X-linked)
Collagen defect (type IV) - COL 4A5 on X chromosome
Deafness
Eye defects
Hypercoagulability
(leading to migrating DVTs & vasculitis)
Trousseau's sign
(adenocarinoma of pancreas or lung)
Trousseau's sign of MALIGNANCY

Not to be confused with Trousseau's sign of hypocalcemia
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Klüver-Bucy syndrome
(bilateral amygdala lesion)
Hypertension, hypoK, metabolic acidosis
Conn's syndrome
(1° hyperaldosteronism)
Hypoxemia, polycythemia, hypercapnia
"Blue bloater"
(chronic bronchitis - hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
(2 etiologies: one painful, one painless)
Nonpainful: chancre
(1° syphilis, Treponema pallidum)

Painful, with exudate: chancroid
(Haemophilus ducreyi)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick dz
(genetic sphingomyelinase deficiency)
What other Niemann-Pick sign did we see in this flashcard set?

Hint: retina
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's dz
(debranching enzyme deficiency)
Impaired glycogenolysis -> hypoglycemia

Different from Von-Gierke: In Cori's, gluconeogenesis is intact!
Infant with microcephaly, rocker-bottom feet, clenched hands, & structural heart defect
Edwards' syndrome
(trisomy 18)
The give-away is the rocker-bottom feet - but this is present in Edwards' AND Patau's. Both also have congenital heart disease, microcephaly, severe mental retardation and early death (< 1 yr)

Patau's has lots of Ps: cleft Palate/lip, holoProsencephaly, Polydactyly

Edwards' - micrognathia (small jaw) & clenched hands
Jaundice, RUQ pain, fever
Charcot's triad 2
(ascending cholangitis)
Keratin pearls on a skin biopsy
Squamous cell carcinoma
Similar finding in lung or cervix squamous cell carcinoma
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)
After injury, patient seems to recover (lucid interval). As the intracranial bleed increases pressure on the brain, symptoms arise.
Male child, recurrent infxns, no mature B cells
Bruton's disease
(X-linked agammaglobulinemia)
The B disease:
Bruton's
in Boys
lacking B cells
get recurrent Bacterial infections
Mucosal bleeding & prolonged bleeding time
Glanzmann's thrombasthenia
(defect in platelet aggregation due to lack of GpIIb/IIIa)
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome
(subtype of FAP)
Necrotizing vasculitis (lungs) & necrotizing glomerulonephritis
Wegener's syndrome
(c-ANCA positive)

Goodpasture's syndrome
(anti-basement membrane antibodies)
Wegener's presents more in upper airways.
Goodpasture's affects the air sacs (where basement membrane is available).
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy
(superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
Other causes of this palsy: neck hyperextension, clavicle fracture
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome
(pituitary infarction)
Blood loss -> hypovolemic shock -> infarction
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
The "other" Charcot's triad: SIN

Scanning speech
Intention tremor
Nystagmus
Oscillating slow/fast breathing
Cheyne-Stokes respirations
(central apnea in CHF or inc. intracranial pressure)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin dz
(autoimmune hemolytic anemia caused by Mycoplasma pneumoniae or infectious mononucleosis)
IgM agglutinates then precipitates, causing thrombosis and hemolysis

Can test at bedside - draw blood into tube w/anticoagulant. Place in ice bath, look for coagulation. When taken out & warmed (as when held in a fist), blood will again anticoagulate.
Painful, pale, cold fingers/toes
Raynaud's syndrome
(vasospasm in extremities)
Painful, raised red lesions on palms & soles
Osler's node
(infective endocarditis)
Painless erythematous lesions on palms & soles
Janeway lesions
(infective endocarditis)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Can possibly cause an early (and life-saving!) diagnosis
Palpable purpura, joint pain, abdominal pain (child)
Henoch-Schönlein purpura
(IgA vasculitis affecting skin & kidneys)
Often follows a URI

Triad: Skin (purpura); Joints (migratory arthralgias); GI (pain, hemorrhage, melena)
Pancreatic, pituitary, parathyroid tumors
Wermer's syndrome
(MEN 1)
Pink complexion, dyspnea, hyperventilation
"Pink puffer"
(emphysema: centroacinar [smoking]; panacinar [α1-antitrypsin deficiency])
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome
(proximal tubular reabsorption defect)

NOT Fanconi's anemia!
Dec. solute reabsorption -> acidosis, decreased bicarb, sodium & glucose
Positive anterior "drawer sign"
ACL (anterior cruciate ligament) injury
Ptosis, miosis, anhidrosis
Horner's syndrome
(sympathetic chain lesion)
Possible cause: Pancoast's tumor
Pupil accommodates but doesn't react
Argyll Robertson pupil, prostitute's pupil
(neurosyphilis)
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infxn)
Guillain-Barré syndrome
(autoimmune acute inflammatory demyelinating polyneuropathy)
Ascending paralysis - ONLY motor
Rash on palms/soles
(3)
2° syphilis

Rocky Mountain Spotted Fever

Coxsackie A virus (hand foot & mouth disease)
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome
(hyper-IgE syndrome: neutrophil chemotaxis abnormality)

It's a good idea to remember both names for this
"Unusual" eczema - because you usually don't see it on the trunk.
Red "currant jelly" sputum in alcoholic or diabetic pts
Klebsiella pneumoniae
"Currant jelly" sputum - Klebsiella
"Rusty-colored" sputum - Strep pneumoniae
"Current jelly" stool - intussusception (in children)
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast
(represents underlying neoplasm)
Red urine in the morning, fragile RBCs
PNH (paroxysmal nocturnal hemoglobinuria)
Possible etiology: deficiency of CD55 or CD59 leaves blood cells susceptible to complement-mediated lysis
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau dz
(dominant tumor suppressor gene mutation, deletion on 3p)
Resting tremor, rigidity, akinesia, postural instability
Parkinson's disease
(nigrostriatal dopamine depletion)
TRAP
"Pill rolling tremor"
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
Pompe's dz
(lysosomal glucosidase deficiency)
POMPE's ruins the PUMP (heart, liver, & muscle)
Early death
Retinal hemorrhages with pale centers
Roth's spots
(bacterial endocarditis)
Other signs:

Janeway lesions
Osler nodes
Splinter hemorrhages
Severe jaundice in neonate
Crigler-Najjar syndrome
(congenital unconjugated hyperbilirubinemia)
Jaundice in a neonate has a HUGE differential
Severe RLQ pain with rebound tenderness
McBurney's sign
(appendicitis)
Due to peritoneal irritation
Short stature, inc. incidence of tumors/leukemia, aplastic anemia
Fanconi's anemia
(genetically inherited; often progresses to AML)

NOT Fanconi's syndrome!
Single palm crease
Simian crease

Down syndrome (trisomy 21) - most common cause
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome
(dynein defect affecting cilia)
Cilia help organize organs in the embryo
Skin hyperpigmentation
Addison's dz
(1° adrenocortical insufficiency of autoimmune or infectious etiology)
ONLY in primary disease - not secondary! (Think why this is)

More commonly an autoimmune than infectious cause
Slow, progressive muscle weakness in boys
Becker's muscular dystrophy
(X-linked, defective dystrophin; less severe than Duchenne's)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots
(measles)
Smooth, flat, moist white lesions on genitals
Condylomata lata
(2° syphilis)
These lesions are INCREDIBLY infectious
Splinter hemorrhages in fingernails
Bacterial endocarditis
"Strawberry tongue"
Scarlet fever - if presents with a rash

Kawasaki disease - affects oral mucosa, possibly without the tongue

Toxic shock syndrome - less likely cause
Strawberry tongue is NOT glossitis!

Glossitis = smooth glossy tongue, with loss of papilla. Seen in vitamin deficiencies
Streak ovaries, congenital heart dz, horseshoe kidney
Turner syndrome
(XO, short stature, webbed neck, lymphedema)
Common congenital heart defect - coarctation of aorta
Sudden swollen/painful big toe joint, tophi
Gout/podagra
(hyperuricemia)
Hyperuricemia is NOT gout; it predisposes to gout.

Tophi - urate crystals surrounded by inflammation
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Scurvy
(Vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis
(osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
No sound during isovolumetric contraction, only during ejection.

In mitral or tricuspid regurgitation, murmur will be heard throughout systole
Thyroid & parathyroid tumors, pheochromocytoma
Sipple's syndrome (MEN 2A)
Thyroid cancer likely to be medullary.

A different adrenal tumor may be present.
Toe extension/fanning upon plantar scrape
Babinski's sign
(UMN lesion)
Unilateral facial drooping involving forehead
Bell's palsy
(LMN CN VII palsy)
Entire CN VII lesion

If bilateral: either Guillain-Barre or Lyme Disease
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome
(reactive arthritis assoc with HLA-B27)
"Can't see, can't pee, can't climb a tree"

PAIR - mnemonic for seronegative spondylarthropathies
Vascular birthmark (port-wine stain)
Hemangioma
(benign, but assoc with Sturge-Weber syndrome)
Vascular birthmarks (e.g., strawberry hemangiomas) often regress with age - this one will not!
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome
(alcoholic and bulimic pts)
Boerhaave - esophageal rupture. Worse than lacerations.
"Waxy" casts with very low urine flow
Chronic end-stage renal dz
From low urine flow (stasis) in tubule
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Schwartzman reaction
(following second exposure to endotoxin)
WBC casts in urine
Acute pyelonephritis
From infection of kidneys - NOT cystitis

Cystitis would show WBCs in urine, but not casts.
Wt loss, diarrhea, arthritis, fever, adenopathy

Hint: likely to be in an older male
Whipple's dz
(Tropheryma whippelii)
"Worst headache of my life"
Subarachnoid hemorrhage