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Rapid Review FA

Classic Presentations Page 4

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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