Norris P G, Elder G H, Hawk J L
Institute of Dermatology, St. Thomas' Hospital, London.
Br J Dermatol. 1990 Feb;122(2):253-7. doi: 10.1111/j.1365-2133.1990.tb08272.x.
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.
