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Homozygous Variegate Porphyria: Two Similar Cases in Unrelated Families

Homozygous variegate porphyria (VP) is described in a 12-year-old boy, whose notable clinical features were retarded growth and lifelong photosensitivity. Both his parents have latent VP. Preliminary details are also given about a second, unrelated patient, a 20year-old woman with VP, dwarfism and lifelong photosensitivity. The homozygous state seems highly probable in her case also. A feature of note in both patients was raised erythrocyte protoporphyrin concentration with 60-70% zinc chelation. We feel that this may be a characteristic feature of homozygous porphyria.