# Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?

## TL;DR

A patient with a rare UROD gene mutation shows symptoms similar to a common form of porphyria, challenging current classification systems.

## Contribution

This case challenges rigid classifications of UROD-related porphyrias by showing a phenotypic continuum influenced by multiple factors.

## Key findings

- The patient is homozygous for the UROD c.185C>T variant.
- Clinical features resemble familial porphyria cutanea tarda.
- The case supports a phenotypic continuum in UROD-related porphyrias.

## Abstract

We report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD‐related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.