| pubmed-article:3143300 | pubmed:abstractText | The investigation and follow-up of three cases of EPP led us to reevaluate the signs and symptoms of the disease, the usefulness of early skin biopsies and protoporphyrin and ferrochelatase determinations. A review of the literature brought forth the salient features of this inborn error of porphyrin metabolism and stressed the value of treatment with beta-carotene and canthaxantine but also the risk of the so-called "gold dust" retinopathy. | lld:pubmed |
