# Porphyria Cutanea Tarda: A Phenotypic Expression of Several Genes

## TL;DR

This paper discusses three porphyria cases in Puerto Rico, emphasizing the role of genetic testing in diagnosis and highlighting the genetic diversity of the condition.

## Contribution

The study reports a previously undocumented PCT case with elevated uroporphyrin but no genetic mutations, suggesting possible unknown genetic factors.

## Key findings

- A PCT case showed elevated uroporphyrin levels without detectable genetic mutations.
- Genetic testing identified FECH and HFE gene mutations in EPP and PCT cases.
- The study underscores the need for further research into porphyria's genetic and phenotypic diversity.

## Abstract

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.