"Butterfly" facial rash and Raynaud phenomenon in a young female - ANSWER -
Systemic lupus erythematosus
Cafe au lait spots, lisch nodules (iris hamartoma), cutaneous neurofibromas,
pheochromocytoma, optic gliomas - ANSWER - NF Type I, Pheochromocytoma, optic
gliomas
Calf pseudohypertrophy - ANSWER - Muscular dystrophy (due to Duchenne, due to X-
linked recessive frameshift mutation in dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae
and tongue - ANSWER - Kawasaki disease (treat with IVIG and aspirin)
"Cherry-red spots" on macula - ANSWER - Tay Sachs (ganglioside accumulation) or
Niemann-Pick (sphingolmyelin accumulation), central retinal artery occlusion
Chest pain on exertion - ANSWER - Angina (stable: with moderate exertion; unstable:
with minimal exertion or at rest)
Chest pain, pericardial effusion/friction rub, persistent fever following MI - ANSWER -
Dressler syndrome (AI mediated post MI fibrinous pericarditis, 2-12 weeks after acute
episode)
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