1144 Long-term observation of the clinical and serological findings in three patients with incomplete erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by both the partial deficiency of ferrochelatase (FECH) and the existence of IVS3-48C in trans to a mutated FECH allele. We previously reported three Japanese patients with a mild phenotype of EPP, which is characterized by for a mild photosensitivity, a slight increase in protoporphyrin (PP) concentration, and the formation of a small number of fluorocytes. These patients have homozygous IVS3-48C polymorphism without causative FECH gene mutations, which can slightly decrease the FECH activity and increase of PP.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Source Type: research