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Variegate Porphyria

definition

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.

synonyms

Variegate Porphyria, Porphyria Variegata, Hereditary Protocoproporphyria, Mixed Hepatic Porphyria

UMLS

Dean-Barnes syndrome, Mixed hepatic porphyria, Mixed porphyria, PORPHYRIA CUTANEA TARDA HEREDITARIA, Porphyria variegata, Porphyria, cutanea tarda, hereditaria, PORPHYRIA, MIXED HEPATIC, PORPHYRIA, SOUTH AFRICAN GENETIC, Porphyria, Variegate, Porphyrias, Variegate, Protocoproporphyria, Protocoproporphyria hereditaria, South African genetic porphyria, South African porphyria, Variegate Porphyria, Variegate Porphyrias, VP - Variegate porphyria

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