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FA 2010 Classic Presentations

Abdominal pain, ascites, hepatosplenomegaly Budd-Chiari Syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma Familial hypercholesterolemia
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 Babinski's Sign (UMN lesion)
Bilateral hilar adenopathy, uveitis Sarcoidosis (noncaseating granulomas)
Blue sclera Osteogenesis Imperfecta (collagen defect)
Bluish line on gingiva Burton's line (lead poisoning)
Bone pain, bone enlargement, arthritis Paget's Disease of bone (increased osteoblast and osteoclast activity)
Café-au-lait spots, Lisch nodules (iris hamartoma) Neurofibromatosis type I
Café-au-lait spots, Lisch nodules (iris hamartoma), + bilateral acoustic neuromas Neurofibromatosis type II
Calf pseudohypertrophy Duchene's Muscular Dystrophy
"Cherry-red spot" on macula Tay-Sachs (ganglioside accumulation), Niemann-Pick (lysosomal storage disease)
Chest pain, pericardial effusion/friction rub, persistent fever following MI Dressler's Syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
Child with fever develops red rash on face that spreads to body "Slapped Cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
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
Continuous "machinery" 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 (usually in AIDS patients [gay men]: associated with HHV-8)
Deep labored breathing/hyperventilation Kussmaul breathing (DKA)
Dermatitis, dementia, diarrhea Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, polyneuropathy Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection Pasteurella multocida
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 Ehlers-Danlos syndrome (collagen defect)
Enlarged, hard left supraclavicular node Virchow's node (abdominal metastasis)
Facial muscle spasm upon tapping Chvostek's sign (hypocalcemia)
Fat, female, forty, and fertile Acute cholecystitis (bile duct blockage)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis Jarisch-Herxhimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash Measles (Morbillivirus)
Fever, night sweats, weight loss B symptoms (lymphoma)
Fibrous plaques in soft tissue of penis Peyronie's disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy Lesch-Nyhan syndrome (HGPRT deficiency)
Green-yellow rings around peripheral cornea Kayser-Fleischer rings (copper accumulation from Wilson's disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms Gaucher's Disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts Alport's syndrome (collagen mutation)
Hyperphagia, hypersexuality, hyperorality, hyperdocility Kluver-Bucy syndrome (bilateral amygdala lesion)
Hypertension, hypokalemia, metabolic acidosis Conn's syndrome (primary hyperaldosteronism)
Hypoxemia, polycythemia, hypercapnia "Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion (nonpainful) Chancre (primary syphilis: Treponema pallidum)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration Neimann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, hepatomegaly Cori's Disease (debranching enzyme deficiency)
Infant with microcephaly, rocker-bottom feet, structural heart defect Edward's Syndrome (trisomy 18)
Jaundice, RUQ pain, fever Charcot's triad (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)
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/soft tissue tumors, impacted/supernumary teeth Gardner's Syndrome (genetic disorder, predisposes to colon cancer)
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis. Wegener's and Goodpasture's syndromes (hemoptysis and glomerular disease)
Neonate with arm paralysis following difficult birth Erb-Duchenne Palsy (superior trunk [C5-6] brachial plexus injury: "waiter's tip")
No lactation postpartum, absent menstruation, cold intolerance Sheehan's syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech Charcot's triad (MS)
Oscillating slow/fast breathing Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
Painful blue fingers/toes, hemolytic anemia Cold agglutinin disease (IgM) (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae or infectious mononucleosis)
Painful, pale, cold fingers/toes Raynaud's syndrome (vasospasm in extremity)
Painful, raised red lesions on palms and soles Osler's nodes (infective endocarditis)
Painless jaundice Cancer of the pancreatic head obstructing bile duct
Palpable purpura, joint pain, abdominal pain (child) Henoch-Schlonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors Wermer's Syndrome (MEN 1)
Pink complexion, dyspnea, hyperventilation "Pink puffer" (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin deficiency])
Polyostotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature 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)
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 polynephropathy)
Rash on palms and soles Secondary syphilis, Rocky Mountain Spotted Fever
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 Breast (indictating underlying neoplasm)
Red urine in the morning Paroxysmal noctural hemoglobinuria
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 glucosidase deficiency)
Retinal hemorrhages with pale centers Roth's spots (bacterial endocarditis)
Severe RLQ pain with rebound tenderness McBurney's sign (appendicitis)
Short stature, increased incidence of tumors/leukemia, aplastic anemia Fanconi's anemia (genetically inherited; often progresses to AML)
Single palm crease Simian crease (Down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis, infertility Kartagener's syndrome (dynein defect affecting cilia)
Skin hyperpigmentation Addison's Disease (primary adrenocortical insufficiency of autoimmune or infectious etiology)
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)
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" Scarlet Fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney Turner's Syndrome (XO, short stature, webbed neck, lymphedema)
Sudden swollen/painful big toe joint, tophi Gout/podagra (hyperurecimia)
Systolic ejection murmur (crescendo-decrescendo) Aortic valve stenosis
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])
Thyroid, parathyroid, adrenal tumors Sipple's Syndrome (MEN 2A)
Ulcerated genital lesion with exudate (painful) Chancroid (Haemophilus ducreyi)
Unilateral facial drooping Bell's palsy (LMN CNVII palsy)
Urethritis, conjunctivitis, arthritis in a male Reiter's Syndrome (reactive arthritis associated with HLA-B27)
Vascular Birthmark (port-wine stain) Hemangioma (benign, but associated with Sturge-Weber syndrome)
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)
"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 polycystic kidney disease)
Child uses arms to stand up from squat Gower's sign (Duchenne muscular dystrophy: X-linked recesssive deleted dystrophin gene)
Conjugate lateral gaze palsy, horizontal diplopia Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Lucid interval after traumatic brain injury Epidural hematoma
Positive anterior "drawer sign" ACL injury
Severe jaundice in neonate Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Created by: megankirch