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123 Cards in this Set

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Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia
(dec. LDL-Rc signalling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan's syndrome (fibrillin defect)
Back pain, fever, night sweats, weight loss
Pott's disease (vertebral tuberculosis)
Big toe extension/fanning upon plantar scrape
Babinki's sign (UMN lesion)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera (dt translucency of CT over choroidal veins)
OSTEOGENESIS IMPERFECTA, brittle bone disease (collagen I defect); may be confused with child abuse. Autosomal Dominant. Problem forming triple helix of collagen in fibroblast.
Multiple # with minimal trauma, Hearing loss, Dental problems
Bluish line on gingiva
Burton's line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget's disease of bone (up osteoblastic and osteclastic activity)
Café-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (A.D.)

[+ Pheochromocytoma, Optic Gliomas, Cafe-au-Lait = hyperpig)
(NF2: +bilateral acoustic neuromas=type II)
Auto Dom. neurofibromas (plexiform and solitary). Optic glioma. Cafe au Lait (hyperpig).
Calf Pseudohyperthrophy + weakness beginning in pelvic girdle which progresses superiorly + cardiac myopathy
Muscular dystrophy [most commonly Duchenne's - X-linked Recessive, dystrophin gene = accelerated muscle breakdown)
"Cherry-red spot" on macula
Tay-Sachs (ganglioside accumulation) OR Niemann-Pick (sphingomyelin accumulation) OR central retinal vein 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
Gower's sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
Child with fever develops red rash on face that spreads to body
"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
Circumoral pallor/sparing
Chorea,dementia, caudate degeneration
Huntington's disease (autosomal-dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps
McArdle's disease (muscle phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear orphthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous "machinery" heart murmur
PDA (close with indomethacin; open with misoprostol [PGE1])
Cutaneous/dermal edema due to connective tissue deposition
Myxedema
[Hypothyroidism OR Grave's disease (pretibial)]
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra [Niacin (B3) deficiency]
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi [Thiamine (B1) deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren's 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, hypermobility of joints, tendency to bleed (easy bruising)
Ehlers-Danlos syndrome (Type III Collagen Defect)
- problem X-linking collagen to make fibrils (outside fibroblast)
- Berry Aneurysm (SAH)

"A Strong (I), Slippery (II), Bloody (III) BM (IV)"
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
Erythrodema, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
Fat, female, forty, and fertile
Choleliathiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash (Koplik Spots)
Measles (Morbillivirus)

- FIRST: cough, coryza, conjunctivitis and Koplik Spots
- THEN: maculopapular rash - head progressing to trunk and extremities (paint can poured over head)
Fever, night sweats, weight loss
B symptoms (lymphoma)
Fibrous plaques in soft tissues of penis
Peyronie's disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-Linked Recessive)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings of WILSON'S DISEASE (Auto. Rec, Chromo 13, copper accumulation in liver, brain, cornea, kidneys and joints, hepatolenticular degeneration, Hepatocellular Carcinoma (α-FP), PD-like symptoms, Asterixis, Ataxia, Dementia, Dysarthria)
TREATMENT: Penicillamine
↓ ceruloplasmin = Cu accumulation
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increase cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
* most common *
Hereditary nephritis, sensorineural hearing loss, cataract
Alport's syndrome (collagen IV (BM) mutation, alpha chain)
- X-linked recessive

"Strong (I - Osteo. Imperfecta), Slippery (II) Bloody (III - Ehler-D) BM (IV - Alport)
Can't see. Can't pee. Can't hear.
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hypertension, hypokalemia, metabolic acidosis
Conn's syndrome (1° hyperaldosteronism)
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
Indurated ulcerated genital lesion (nonpainful)
Chancre (1° syphillis, Treponema pallidum)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency, accumulation of Sphingomyelin)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
Infant with microcephaly, rocket -bottom feet, clenched hands, and structral heart defect
Edwards's syndrome (trisomy 18)
Jaundice, RUQ pain, fever
Charcot's triad 2 (ascending cholangitis)
Keratin pearls on a skin lesion
Squamous cell carcinoma
Large rash with bull's-eye appearance
Erythema chronicum migrans from tick bite (Lyme disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of Gpllb/llla)
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (genetic disorder, predisposes to colon cancer)
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis
Wegener's and Gooodpasture's syndromes (hemoptysis and glomerular disease)
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's syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
Oscillating slow/fast breathing
Cheyne-Strokes respirationa (central apnea in CHF or ↑ICP)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae infectious mononucleosis)
Painful , pale, cold fingers/toes
Raynaud's syndrome (vasospasm in extremities)
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis, immune complex deposition)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitarym parathyroid tumors
MEN 1 (Autosomal Dominant)
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema:centroacinar [smoking], panacinar [α₁-antitrypsin defeciency])
Polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, short statue in a young girl
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
Positive anterior "drawer sign"
Anterior cruciate ligament (ACL) injury
Ptosis, miosis, anhidrosis
Horner's syndrome (sympathetic chain lesion)
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
- Campylobacter
Rash on palms and soles
2° Syphilis OR Rocky Mountain spotted fever OR Coxsackie A Virus
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality)
Red "currant jelly" sputum
Klebsiella pneumoniae
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast (represents underlying neoplasm)
Red urine in the morning
Paroxysmal nocturnal hemoglobinuria (CD 50, CD 59)
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting Tremor, rigidity, akinesia, postural instability
Parkinson's disease (nigrostriatal dopamine depletion)
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance
Pompe's disease (lysosomal α-1,4 -glucosidase deficiency)
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
Severe jaundice in neonate
(unconjugated bilirubin)
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
- NO enzyme (UDP-Glucuronyl transferase), kernicteris
(Type II - milder, tx with Phenobarbitol)

Gilbert's (mild dec in enzyme, or dec uptake)
D-J (no liver excretion, conj. bilirubin, black liver)
Severe RLQ pain with rebound tenderness
Mcburney's sign = APPENDICITIS
[fecalith in Adults, lymphoid hyperplasia in kids (measles, adenovirus)
Short stature, ↑incidence of tumors/leukemia, aplastic anemia
Fanconi's Syndrome/Anaemia (genetically inherited; genetic loss of DNA X-link pair; often progresses to AML)
Single palm cease
Simian crease (Down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis
Kartagener's Syndrome (dynein defect affecting cilia)
- Dynein (Molecular Motor Protein transporting cargo along MT, RETROGRADE)
Skin Hyperpigmentation
Addison's disease (1° adrenocortical insufficiency of autoimmune or infectious etiology; ↑ACTH and ↑MSH production)
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 mucuosa with blue-white centers
Koplik spots (measles)
Smooth, flat, moist white lesions on genitals
Condylomata lata (2°syphilis)
Small, nontender, erythematous lesions on palms/soles
Janeway lesions (infective endocarditis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
"Strawberry tongue"
Scarlet fever, Kawasaki disease, Toxic Shock Syndrome
Streak ovaries, congential heart disease, horseshoe kidneys
Turner's syndrome (XO, short stature, webbed neck, lymphedema, Coarctation of Aorta)
Sudden swollen/painful big toe joint, tophie
Gout/podagra (hyperuricemia)
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])
NOT MCP!!
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
Medullary Thyroid , Parathyroid, Pheochromocytoma
MEN 2A (autosomal recessive ret mutation)

[MEN1: Pituitary, Parathyroid, Pancreatic]
[MEN 2B: Thyroid, Pheochromocytoma, Ganglioneuromatosis]
Ulcerated genital lesion with exudate (PAINFUL)
Chancroid (Haemophilus ducreyi)
Unilateral facial drooping involving forehead
Bell's palsy (LMN CN VII palsy)
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (Reactive Arthritis, HLA-B27)
Vascular birthmark (portwine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome, if in V1 distribution)
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Shwartzman reaction (following second exposure to endotoxin)
Vomiting blood following esophagogastric lacerations
Mallory-Weiss syndrome (alcoholics and eating disorders)
- mucosal tear, NOT transmural
"Waxy" casts with very low urine flow
Chronic end-stage renal disease
WBC casts in urine
Acute pyelonephritis
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple's disease (Tropheryma whippelii)
"Worst headache of my life"
Berry aneurysm (associated with adult polycystic kidney disease, Ehler-Danlos, Marfan), SAH "worst HA of my life"
Bilateral Acoustic Neuroma
NF2
Renal Angiomyolipoma
Tuberous Sclerosis. Auto Dom. seizures, mental retardation, ash-leaf spots
Bounding Pulses, Diastolic Heart Murmur, Head Bodding
Aortic Regurgitation
--- "blowing", after S2, decrescendo murmur, dt aortic root dilatation (Syphilis, Marfan's, RF, endocarditis) ↑ with Hand Grip (↑Systemic Vasc. P)
HypERflexia, HypERtonia, Babinski sign present
UMN Damage
HypOflexia, HypOtonia, atrophy, fasciculations
LMN Damage
Periorbital Edema, Peripheral Edema, Proteinuria, Hypoalbuminemia, Hypercholesterolemia
NephrOtic Syndrome
Swollen gums, mucosal bleeding, Poor Wound healing, spots on skin
SCURVRY (Vit. C Deficiency) - cannot hydroxylate proline/lysine for collagen synthesis
Situs inversus, Chronic sinusitus, Bronchiectasis, Infertility
Kartagener's - dynein arm defect affecting cilia)
Red "currant jelly" stools
Intussusception (infants); Acute Mesenteric Ischaemia (adults)
Thyroid tumour, Pheochromocytoma, Ganglioneuromatosis
MEN 2B (Auto. Dominant ret gene mutation)