Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report

This case highlights the diagnostic challenges of EPP and the importance of integrating clinical history, histopathology, and genetic testing. Polarized light microscopy is crucial for identifying the characteristic features of EPP. Early genetic testing can guide timely diagnosis and treatment, contributing to the understanding of this rare condition.

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Publication Details

Journal
Frontiers in Medicine
Published
2025-09-25
DOI
https://doi.org/10.3389/fmed.2025.1664961
Primary Topic
Porphyrin Metabolism and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report

Tingting Yang, Chunming Li, Jinjing Wang, Ching‐yu Chen
Frontiers in Medicine
Porphyrin Metabolism and Disorders
article

Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report

Tingting Yang, Chunming Li, Jinjing Wang, Ching‐yu Chen
article en

Abstract

This case highlights the diagnostic challenges of EPP and the importance of integrating clinical history, histopathology, and genetic testing. Polarized light microscopy is crucial for identifying the characteristic features of EPP. Early genetic testing can guide timely diagnosis and treatment, contributing to the understanding of this rare condition.

Frontiers in MedicineVol. 12
Zunyi Medical University (CN)
Openalex Percentile: Top 77%
Porphyrin Metabolism and Disorders
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