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121 Cards in this Set

  • Front
  • Back
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (v. incr LDL)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friederichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan's (fibrilin defect)
Athlete with polycythemia
Erythropoietin doping
Back pain, fever, night sweats, weight loss
Pott's disease (vertebral TB)
Bilateral Bell's Palsy (2 dx's)
Guillane-Barre, Lyme disease
Bilateral hilar adenopathy, uveitis
Sarcoidosis (non-caseating granulomas) (caseating = TB)
Blue sclera
Osteogenesis imperfecta (Type I collagen defect)
Bluish line on gingiva
Burton's line - lead poisoning
Bone pain/enlargement, arhtritis
Paget's disease of bone (incr osteoblastic AND osteoclastic activity)
Bounding pulses, diastolic murmur, head bobbing
Aortic regurg.
Cafe-au-lait spots, Lisch nodules (iris hemartoma), pheochromocytoma, optic glioma
Neurofibromatosis Type I
Easiest way to segregate neurofibromatosis I from II
II has bilateral acoustic neuromas, I does not
Calf pseudohypertrophy
Muscular dystrophy
Cherry red spot on macula (2 dx's)
Tay-sachs, Niemann-Pick
Ganglioside accumulation
Chest pain, pericardial effusion/fruction rub, persistent fever following MI
Dressler's syndrome (autoimmue post-MI fibrinous pericarditis, 1-12 weeks later)
Child uses arms to stand up from squat
Gower's sign - Duchenne muscular dystrophy
Inheritance of Duchenne
X-linked recessive (a deleted dystrophin gene)
Child with red rash on face/cheeks that spreads to body
Erythema infectiosum (fifth disease, parvovirus B19, "slapped cheeks")
Chorea, dementia, caudate degeneration
Huntigton's (autosomal dom. CAG repeat; ACh is decr)
Chornic exercise intolerance with myalgia, fatigue, painful cramps
McArdle's disease (phosphorylse deficiency)
Conjugate lateral gaze palsy, horizontal diploplia
Internuclear ophthalmoplegia (damage to MLF; MS if bilat., stroke if unilat.)
Cutaneous/dermal edema due to connective tissue deposit
Myxedema (hypothyroidism, Graves' disease)
Dark purple skin/mouth nodules
Kaposi's sarcoma (AIDS + HHV-8)
Dermatitis, dementia, diarrhea
Pellagra (Niacin/B3 deficiency)
Dilated cardiomyopathy, edema, polyneuropahty
Wet beriberi (thiamine/B1 deficiency) [Dry beriberi = polyneuropathy alone]
Dog or cat bite leads to infeciton
Pastuerella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arhtritis
Dysphagia due to esophageal webs, glossitis, iron deficiency anemia
Plummer-Vinson syndrome
Cancer following Plummer-Vinson syndrome
Esophageal squamous cell carcinoma
Elastic skin, joint hypermobility
Ehlers-Danlos syndrome (Type III collagen defect)
Enlarged, hard left supraclavicular node
Abdominal metastasis (Virchow's node)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutanous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Hypocalcemia (Chvostek's sign)
Fever, chills, headache, myalgia following abx tx for syphylis
Jarisch-Herxheimer reaction (lysis of spirochetes --> toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Fibrous plaque in soft tissue of penis
Peyronie's disease
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan (HGPRT deficiency --> no purine salvage pathway; X-linked recessive)
HGPRT deficiency
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (Wilson's)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstr.; incr colon CA risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's (glucocerebrosidase deficiency) (Crinkled tissue paper appearace of cells)
Glucocerebrosidase deficiency
Gaucher's (most common lysosomal storage disease)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (Type IV collagen defect, most commonly on alpha-5 chain)
Hypercoagulability (Trousseau's sign of Malignancy)
Adenocarcinoma of pancreas or lung
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (Bilat. amygdala lesion)
HTN, hypokalemia, metabolic acidosis
Conn's syndrome (primary aldosteronism)
Hypoxemia, polycthemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
Nonpainful, indurated, ulcerated genital lesion
Chancre (primary syphylis)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick (sphingomyelinase deficiency)
Sphingomyelinase deficiency
Infant with hypoglycemia, failure to thrive, hepatomegaly
Cori's disease (debranching enzyme deficiency)
Infant with microcephaly, micrognathia (small jaw), rocker-bottom feet, strucutral heart defect, clenched hands
Edward's (trisomy 18)
Jaundice, RUQ pain, fever
Ascending cholangitis
Keratin pearls on a skin lesion
Squamous cell carcinoma (can also get keratin pearls in lung & cervix)
Large rash with bull's-eye appearance
Erythema chronicum migrans (Lyme disease)
Lucid interval following 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 GpIIb/IIIa)
Multiple colon polyps, osteomas or soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome (AD mutation on APC gene)
Cancer with Gardner's syndrome
Colon cancer
Necrotizing vasculitis of lungs and necrotizing glomerulonephritis
Wegener's or Goodpasture's (NOTE: Wegener's is c-ANCA (+) & incl upper airway disease, i.e. soft palate & sinuses)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy
Waiter's tip
Superior trunk (C5-C6) brachial plexus injury (Erb-Duchenne in neonate)
Postpartum with no lactation, amenorrhea, and cold intolerance
Sheehan's syndrome (pituitary infarct)
Nystagmus, intention tremor, scanning speech
Charcot's triad (Multiple sclerosis)
Oscillating between slow/fast breathing
Cheyne-Stokes (central apnea in CHF or increased intracranial pressure)
Painful blue finger/toes, hemolytic anemia
Cold agglutinin disease (Mycoplasma pneumonia or EBV)
Painful, pale, and cold fingers or toes
Raynaud's syndrome (vasospasm in extremities)
Painful, raised red lesions on palms and soles
Osler's nodes (infective endocarditis)
Painless jaundice in adult
Cancer of pancreatic head (obstucting bile duct)
Child with palpable purpura, joint pain, abdominal pain
Henoch-Schonlein purpura (IgA vasculitis in skin, kidneys)
Pancreatic, pituitary, and parathyroid tumors
Wermer's syndrome (MEN 1)
Pink complextion, dyspnea, hyperventilation
Pink puffer (emphysema)
Cause of centroacinar emphysema
Cause of panacinar emphysema
Alpha 1-antitrypsin deficiency
Young girl with polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature
McCune-Albright syndrome (mosiac G-protein signaling mutation)
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
Ptosis, miosis, anhidrosis
Horner's syndrome (Pancoast's tumor is common cause)
Pupil accommodates but doesn't react
Argyll Robertson (neurosyphilis)
Following GI or upper respiratory infection: rapidly progressive, ascending leg weakness
Gullan-Barre syndrome (no sensory loss, only motor; life-threatening if ascends to diaphragm)
Three dx's for rash on palms and soles
Secondary syphylis, rock mountain spotted fever, coxsackievirus A
Recurrent colds, truncal eczema, and high IgG
Job's syndrome aka hyper IgE syndrome (neutrophil chemotaxis abnormality)
Red "currant jelly" sputum
Klebsiella pneumonia
Red "currant jelly" stool in a child
Rust-colored sputum
Strep. pneumoniae
Red, itchy, swollen rash of nipple/areola
Paget's disease of breast (represents underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria (deficiency of CD55 and/or CD59 --> normally protect RBCs)
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
vHL disease (dominant tumor supressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability
Parkinson's (nigrostriata dopamine depletion)
Restrictive cardiomyopathy in adult OR cardiomegaly in child, Exercise intolerance
Pompe's disease (lysosomal glucosidase deficiency)
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Short stature with aplastic anemia and increased incidence of tumors/leukemia
Fanconi's anemia
Fanconi's anemia often progresses to what tumor?
Single palm crease
Simian crease (Down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein defect --> immotile cilia)
Skin hyperpigmentation
Addison's disease (primary adrenocortical insuff.; hyperpigmentation ONLY seen in primary!)
Slow, progressive muscle weakness in a boy. Less severe than Duchenne's
Becker's muscular dystrophy
Small, irregular red spots with blue-white centers on buccal/lingual mucosa
Koplik spots (Measles)
Small, nontender, erythematous lesions on palms/soles
Janeway lesions (infective endocarditis)
Smooth, flat, moist white lesions on genitals
Condylomata lata (secondary syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
Strawberry tongue (3 dx's)
Scarlet fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney
Turner's syndrome (XO, short stature, webbed neck, lymphedema)
Swollen gums, mucous bleeding, poor wound healing, spots on skin
Location of Bouchard's nodes
Location of Heberden's nodes
Systolic ejection murmur, crescendo-decrescendo
Aortic stenosis
Medullary carcinoma of thyroid, parathyroid tumors, pheochromocytoma
Sipple's syndrome (MEN 2A)
Painful ulcerated genital lesion with exudate
Chancroid (Haemophilus ducreyi)
Urethritis, conjunctivitis, arthritis in a male
Reiter's syndrome (reactive arthritis assoc. w HLA-B27)
Port-wine stain
Hemangioma (can be benign or Sturge-Weber)
Vasculitis from exposure to endotoxin causing glomerular thrombosis
Shwartzman reaction (following 2nd exposure to same toxin)
Vomiting blood following esophagogastric laceration
Mallory-Weiss syndrome (alcoholic or eating disorder)
Waxy casts with very low urine flow
Chronic end-stage renal disease
WBC casts in urine
Acute pyelonephritis
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipples disease (Tropheryma Whippelii)
ADPKD with severe headache
Berry aneurysm