Homozygous variegate porphyria: a case report.
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.
Norris
P G
PG
Institute of Dermatology, St. Thomas' Hospital, London.
Elder
G H
GH
Hawk
J L
JL
D000293:Adolescent; D005260:Female; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D011164:Porphyrias / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology