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Homozygous variegate porphyria: a case report
Author(s) -
NORRIS P.G.,
ELDER G.H.,
HAWK J.L.M.
Publication year - 1990
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1990.tb08272.x
Subject(s) - protoporphyrinogen oxidase , porphyria , medicine , endocrinology , protoporphyrin , photosensitivity , porphyrin , chemistry , biochemistry , enzyme , physics , quantum mechanics
SUMMARY 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.