Atypical Presentation of Homozygous <scp>UROD</scp> Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?
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.
Authors
- Pedro Gabriel Dotto (ORCID: https://orcid.org/0000-0003-4281-1605)
- João Bosco Pesquero (ORCID: https://orcid.org/0000-0002-4507-632X)
- Caio Perez Gomes (ORCID: https://orcid.org/0000-0002-6553-7701)
- José Francisco da Silva Franco
- Mônica Ribeiro de Azevedo Vasconccellos
Institutions
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-06-19
- DOI
- https://doi.org/10.1111/cge.70007
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Conselho Nacional de Desenvolvimento Científico e Tecnológico