Classic Presentations

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  1. Abdominal pain, ascites, hepatomegaly
    Budd-Chiari syndrome (posthepatic venous obstruction)
  2. Achilles tendon xanthoma
    Familial Hypercholesterolemia (decreased LDL receptor signaling)
  3. Adrenal hemorrhage, hypotension, DIC
    Waterhouse-Friedrichsen syndrome (meningococcemia)
  4. Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
    Marfan's syndrome (fibrillin defect)
  5. Athlese with polycythemia
    Erythropoietin injection
  6. Back pain, fever, night sweats, weight loss
    Pott's disease (vertebral TB)
  7. Bilateral hilar adenopathy, uveitis
    Sarcoidosis (noncaseating granulomas)
  8. Blue sclera
    Osteogenesis imperfecta (collagen defect)
  9. Bluish line on gingiva
    Burton's line (lead poisoning)
  10. Bone pain, bone enlargement, arthritis
    Paget's disease of bone (increased osteoclastic and osteoblastic activity)
  11. Bounding pulses, diastolic heart murmur, head bobbing
    Aortic regurgitation
  12. "butterfly" facial rash and Raynaud's phenomenon in a young female
    Systemic Lupus Erythematosus
  13. Café-au-lait spots, Lisch nodules (iris hamartoma)
    • Neurofibromatosis type I (+ pheochromocytoma, optic glioma)
    • NF 2 (+ BL acoustic neuromas)
  14. Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
    McCune-Albright syndrome (mosaic G-protein signaling mutation)
  15. Calf psuedohypertrophy
    Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene
  16. "Cherry red" spot on macula
    Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
  17. Chest pain on exertion
    Angina (stable: moderate exertion; unstable: minimal exertion)
  18. 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)
  19. Child uses arms to stand up from squat
    Gowers' sign (Duchenne's Muscular Dystrophy)
  20. Child with fever develops red rash on face that spreads to body
    "slapped cheeks" (erythema infectiosum/fifth disease from parvovirus B19)
  21. Chorea, dementia, caudate degeneration
    Huntington's disease (autosomal-dominant CAG repeat expansion)
  22. Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
    McArdle's disease (muscle glycogen phosphorylase deficiency)
  23. Cold Intolerance
  24. Conjugate lateral gaze palsy, horizontal diplopia
    Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
  25. Continuous "machinery" heart murmur
    Patent Ductus Arteriosus (close with indomethacin; open with misoprostol)
  26. Cutaneous/dermal edema due to connective tissue deposition
    Myxedema (caused by hypothyroidism, Graves' disease [periorbital])
  27. Dark purple skin/mouth nodules
    Kaposi's sarcoma (usually AIDS patients [gay men]; associated with HHV-8)
  28. Deep, labored breathing/hyperventilation
    Kussmaul breathing (DKA)
  29. Dermatitis, dementia, diarrhea
    Pellagra (vitamin B6 deficiency)
  30. Dilated cardiomyopathy, edema, polyneuropathy
    Wet beriberi (thiamine [B1] deficiency)
  31. Dog or cat bite resulting in infection
    Pasteurella multocida (cellulitis at innoculation site)
  32. Dry eyes, dry mouth, arthritis
    Sjögren's syndrome (autoimmune destruction of exocrine glands)
  33. Dysphagia (esophageal webs), glossitis, iron deficiency anemia
    Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
  34. Elastic skin, hypermobility of joints
    Ehlers-Danlos syndrome (type III collagen defect)
  35. Enlarged, hard left supraclavicular lymph node
    Virchow's node (abdominal metastasis)
  36. Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
    Sézary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
  37. Facial muscle spasm upon tapping
    Chvostek's sign (hypocalcemia)
  38. Fat, female, forty, and fertile
    Acute cholelithiasis (bile duct blockage)
  39. Fever, chills, headache, myalgia following antibiotic treatment for syphilis
    Jarish-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
  40. Fever, cough, conjunctivitis, coryza, diffuse rash
    Measles (Morbilivirus)
  41. Fever, night sweats, weight loss
    B symptoms (lymphoma)
  42. Fibrous plaques in soft tissue of penis
    Peyronie's disease (connective tissue disorder)
  43. Gout, mental retardation, self-mutilating behavior in a boy
    Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
  44. Green-yellow rings around peripheral cornea
    Kayser-Fleischer rings (copper accumulation from Wilson's disease)
  45. Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
    Peutz-Jegher's syndrome (genetic genign polyposis can cause bowel obsrtuction, increased cancer risk)
  46. Hepatosplenomegaly, osteoporosis, neurologic symptoms
    Gaucher's disease (glucocerebrosidase deficiency)
  47. Hereditary nephritis, sensorineural hearing loss, cataracts
    Alport syndrome (mutation in alpha chain of collagen IV)
  48. Hypercoaguability (leading to migrating DVTs and vasculitis)
    Trousseau's sign (adenocarcinoma of pancreas or lung)
  49. Hyperphagia, hypersexuality, hyperorality, hyperdocility
    Kluver-Bucy syndrome (bilateral amygdala lesion)
  50. Hyperreflexia, hypertonia, positive Babinski sign
    UMN lesion
  51. Hypertension, hypokalemia, metabolic alkalosis
    Conn's syndrome
  52. Hyporeflexia, hypotonia, atrophy
    LMN lesion
  53. Hypoxemia, polycythemia, hypercapnia
    "blue bloater" (chronic bronchitis)
  54. Indurated, ulcerated genital lesion
    • Nonpainful: chancre (primary syphilis/T pallidum)
    • Painful with exudate: chancroid (H ducreyi)
Card Set:
Classic Presentations
2012-03-23 04:34:07

First section of "rapid review" in the back of FA 2012
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