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Variegate Porphyria


Autosomal dominant disorder in porphyrin metabolism with primary enzyme defect of protoporphyrinogen oxidase. As a result, protoporphyrin is deposited in the tissues and there is increased excretion of protoporphyrin and coproporphyrin in the stools. Skin lesions including bullae, erosions and scaling usually begin after puberty. Skin fragility, milia and hypertrichosis may also occur.




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