Classic Presentations I Flashcards
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Arachnodactyly,
lens dislocation,
aortic dissection,
hyperflexible joints
Marfan’s syndrome (fibrillin defect)
Back pain, fever, night sweats, weight loss
Pott’s disease (vertebral TB)
Bilateral hilar adenopathy
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bone pain, bone enlargement, arthritis
Paget’s disease of bone (increased osteoblastic and osteoclastic activity)
Butterfly facial rash and Raynaud’s phenomenon in a young female
SLE
Chorea, dementia, caudate degeneration
Huntington’s disease (autosomal-dominant CAG repeat expansion)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; bilateral [MS]; unilateral [stroke])
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS patients [MSM]; associated w/ HHV8)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism/malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Dry eyes, dry mouth, arthritis
Sjogren’s syndrome (autoimmune destruction of exocrine glands)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
Hyperreflexia hypertonia, Babinksi sign presnt
UMN damage