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Case Reports
. 1990 Feb;122(2):253-7.
doi: 10.1111/j.1365-2133.1990.tb08272.x.

Homozygous variegate porphyria: a case report

P G Norris  1 , G H Elder, J L Hawk
Affiliations
Case Reports

Homozygous variegate porphyria: a case report

P G Norris et al. Br J Dermatol. 1990 Feb.

Abstract

Homozygous variegate porphyria is described in a 14-year-old girl with a unique clinical presentation of photosensitivity from the second year of life, mental retardation, clinodactyly, and normal growth rate. The erythrocyte protoporphyrin concentration was raised with the protoporphyrin being predominantly zinc-chelated, which appears to be characteristic for all homozygous hepatic porphyrias. Protoporphyrinogen oxidase activity in lymphoblasts was decreased in both patient and parents despite the latter having normal porphyrin excretion.

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