Erythropoietic Protoporphyria (Antea Lipoid Proteinosis) in Sisters

Abstract

Two sisters with erythropoietic protoporphyria were given adenosine monophosphate (AMP; adenosine-5-monophosphate; My-B-Den) as a therapeutic trial for five months. This medication failed to produce a significant decrease in the high level of erythrocyte, plasma, or stool protoporphyrins or prevent the recurrence of photosensitivity. In both patients, a considerable natural variation of these porphyrin determinations was observed. The variation in the quantity of plasma and erythrocyte protoporphyrin appeared to be directly related but independent of the fecal protoporphyrin. These cases were previously reported as examples of lipoid proteinosis, principally because of the histological presence of hyalinosis cutis; although this was limited to the light-exposed areas of skin. There have been 150 cases of lipoid proteinosis (hyalinosis cutis et mucosae) described, of which six have now been identified as erythropoietic protoporphyria.