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Rapid Review FA
Classic Presentations Page 4
| Question | Answer |
|---|---|
| Severe jaundice in neonate | Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) |
| Golden brown rings around peripheral cornea | Wilson disease (Kayser-Fleischer rings due to copper accumulation) |
| Fat, female, forty, fertile | Cholelithiasis (gallstones) |
| Painless jaundice | Cancer of the pancreatic head obstructing bile duct |
| Bluish line on gingiva | Burton line (lead poisoning) |
| Short stature, café-au-lait spots, thumb/radial defects, increase incidence of tumors/leukemia, aplastic anemia | Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
| Red/pink urine, fragile RBCs | Paroxysmal nocturnal hemoglobinuria |
| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL) |
| Petechiae, mucosal bleeding, prolonged bleeding time | Platelet disorders (eg, Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP) |
| Fever, night sweats, weight loss | B symptoms of malignancy |
| Skin patches/plaques, Pautrier microabscesses, atypical T cells | Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood) |
| WBCs that look “smudged” | CLL |
| Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position | Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury) |
| Anterior drawer sign ⊕ | Anterior cruciate ligament injury |
| Bone pain, bone enlargement, arthritis | Osteitis deformans (Paget disease of bone,increase osteoblastic and osteoclastic activity) |
| Swollen, hard, painful finger joints in an elderly individual, pain worse with activity | Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes]) |
| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia) |
| Dry eyes, dry mouth, arthritis | Sjögren syndrome (autoimmune destruction of exocrine glands) |
| Urethritis, conjunctivitis, arthritis in a male | Reactive arthritis associated with HLA-B27 |
| “Butterfly” facial rash and Raynaud phenomenon in a young female | Systemic lupus erythematosus |
| Painful fingers/toes changing color from white to blue to red with cold or stress | Raynaud phenomenon (vasospasm in extremities) |
| Anticentromere antibodies | Scleroderma (CREST) |
| Dark purple skin/mouth nodules in a patient with AIDS | Kaposi sarcoma, associated with HHV-8 |
| Anti-desmoglein (anti-desmosome) antibodies | Pemphigus vulgaris (blistering) |
| Pruritic, purple, polygonal planar papules and plaques (6 P’s) | Lichen planus |
| Increase AFP in amniotic fluid/maternal serum | Dating error, anencephaly, spina bifida (open neural tube defects) |
| Ataxia, nystagmus, vertigo, dysarthria | Cerebellar lesion |
Created by:
cleomp
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