Porphyria Cutanea Tarda: A Phenotypic Expression of Several Genes

Porphyria comprises a group of rare inherited or acquired disorders characterized by defects in the heme biosynthetic pathway, resulting in the accumulation of porphyrins or their precursors. This study presents three cases of porphyria in Puerto Rico, including erythropoietic protoporphyria (EPP) and porphyria cutanea tarda (PCT). Genetic testing revealed a heterozygous mutation in the FECH gene in the EPP case and an HFE gene mutation in a PCT case with hereditary hemochromatosis. A previously undocumented case of PCT with elevated uroporphyrin levels but negative genetic panel results raises questions about the genetic basis of porphyria. Our findings highlight the importance of genetic testing in diagnosing and managing porphyria, emphasizing the need for further research into its genetic and phenotypic diversity. This study contributes to the understanding of porphyria in Puerto Rico, offering insights into its clinical and genetic complexities.