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Rapid Review ` ClassiC Presentations Rapid Review ` ClassiC Presentations SeCTiON iii 693

CliniCal Presentation DiaGnosis/Disease PaGe
Severe jaundice in neonate Crigler-Najjar syndrome (congenital unconjugated 394
hyperbilirubinemia)
Golden brown rings around peripheral cornea Wilson disease (Kayser-Fleischer rings due to copper 395
accumulation)
Fat, female, forty, fertile Cholelithiasis (gallstones) 396
Painless jaundice Cancer of the pancreatic head obstructing bile duct 398
Bluish line on gingiva Burton line (lead poisoning) 419
Short stature, café-au-lait spots, thumb/radial defects, Fanconi anemia (genetic loss of DNA crosslink repair; 421
 incidence of tumors/leukemia, aplastic anemia often progresses to AML)
Red/pink urine, fragile RBCs Paroxysmal nocturnal hemoglobinuria 422
Painful blue fingers/toes, hemolytic anemia Cold agglutinin disease (autoimmune hemolytic 423
anemia caused by Mycoplasma pneumoniae, infectious
mononucleosis, CLL)
Petechiae, mucosal bleeding, prolonged bleeding time Platelet disorders (eg, Glanzmann thrombasthenia, 427
Bernard Soulier, HUS, TTP, ITP)
Fever, night sweats, weight loss B symptoms of malignancy 429
Skin patches/plaques, Pautrier microabscesses, atypical Mycosis fungoides (cutaneous T-cell lymphoma) or 430
T cells Sézary syndrome (mycosis fungoides + malignant
T cells in blood)
WBCs that look “smudged” CLL 432
Neonate with arm paralysis following difficult birth, arm Erb-Duchenne palsy (superior trunk [C5–C6] brachial 448
in “waiter’s tip” position plexus injury)
Anterior drawer sign ⊕ Anterior cruciate ligament injury 454
Bone pain, bone enlargement, arthritis Osteitis deformans (Paget disease of bone,  osteoblastic 463
and osteoclastic activity)
Swollen, hard, painful finger joints in an elderly Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP 466
individual, pain worse with activity [Heberden nodes])
Sudden swollen/painful big toe joint, tophi Gout/podagra (hyperuricemia) 467
Dry eyes, dry mouth, arthritis Sjögren syndrome (autoimmune destruction of exocrine 468
glands)
Urethritis, conjunctivitis, arthritis in a male Reactive arthritis associated with HLA-B27 469
“Butterfly” facial rash and Raynaud phenomenon in a Systemic lupus erythematosus 470
young female
Painful fingers/toes changing color from white to blue to Raynaud phenomenon (vasospasm in extremities) 472
red with cold or stress
Anticentromere antibodies Scleroderma (CREST) 473
Dark purple skin/mouth nodules in a patient with AIDS Kaposi sarcoma, associated with HHV-8 478

Anti-desmoglein (anti-desmosome) antibodies Pemphigus vulgaris (blistering) 480
Pruritic, purple, polygonal planar papules and plaques Lichen planus 482
(6 P’s)
 AFP in amniotic fluid/maternal serum Dating error, anencephaly, spina bifida (open neural tube 491
defects)
Ataxia, nystagmus, vertigo, dysarthria Cerebellar lesion 499

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