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Amyloidosis
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Skin papules, nodules and plaques
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Conjunctival nodules, corneal dystrophies, glaucoma
Graves disease
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Hyperthroidism with goiter,ophthalmopathy, and dermopathy
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Facial and palmer flushing, nail bed anomaly
- Lagophthalmos, exposure keratopathy, optic neurpathy
Porphyrias
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Skin vesicles, bullae and scarring
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Retinal edema, hemorrhages, optic atrophy
Spingolipidoses
Farber disease
Subcutaneous nodules
Usually fatal in early childhood
"Cherry red" macula
Gaucher disease
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Yellow-brown pigmentation that darkens with sun exposure
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Chalky white retinal spots
Fabry disease
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Vascular papules in girdle region
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White to brown whorl-shaped deposit corneal epithelium
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Spoke-like lens deposits
Neimann-Pick disease
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Retardation and death in childhood
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Jaundice
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Macular "cherry-red" spot
Vitamin A Deficiency
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Dry wrinkled skin with fine scales
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Conjunctival and corneal xerosis, Bittot's spot, night blindness, keratomalacia
Vitamin A toxicity
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Anorexia, hair loss, drying and cracking of the skin and lips
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Headache, papilledema
Vitamin C deficiency (Scurvy)
- Hyperkeratosis, bleeding gums
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KCS
Hypovitaminosis B2
- Niacin deficiency (Pellagra)
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3 d's: dermatitis, diaarrhea, dementia
Xanthomas
Xanthalasma
Type IIa high cholesterol and high LDL
Type IIb high cholesterol and high VLDL
Risk even if lipids normal
Diffuse planer xanthoma
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Look like xanthelesma, but not periorbital
Tuberous Xanthoma
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Larger firmer subcutaneous lisions
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