{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T14:30:07Z","timestamp":1776954607953,"version":"3.51.4"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:00:00Z","timestamp":1758758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Erythropoietic protoporphyria (EPP) is a rare autosomal recessive disorder caused by mutations in the FECH gene, leading to ferrochelatase deficiency and the accumulation of protoporphyrin in various organs. EPP patients with liver damage have atypical histopathological manifestations, which pose challenges for pathological diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Content<\/jats:title><jats:p>We report a 29-year-old male with recurrent abdominal pain and scleral jaundice. Initial liver dysfunction suggested autoimmune hepatitis, but liver biopsy revealed dense brownish granular deposits with red birefringence under polarized light, characteristic of EPP. Genetic testing identified a new mutation site (c.804\u202f+\u202f1del), which may be related to the disease. Additionally, the patient also has Gilbert\u2019s syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2025.1664961","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T05:31:18Z","timestamp":1758778278000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report"],"prefix":"10.3389","volume":"12","author":[{"given":"Tingting","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changxian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunming","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinjing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"S445","DOI":"10.1542\/peds.2016-1625","article-title":"Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease","volume":"141","author":"Coffey","year":"2018","journal-title":"Pediatrics"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1016\/j.ymgme.2019.04.008","article-title":"Heme biosynthesis and the porphyrias","volume":"128","author":"Phillips","year":"2019","journal-title":"Mol Genet Metab"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ejim.2018.10.014","article-title":"Extrahepatic autoimmunity in autoimmune liver disease","volume":"59","author":"Floreani","year":"2019","journal-title":"Eur J Intern Med"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1001\/archderm.143.9.1125","article-title":"Clinical, Biochemical, and Genetic Study of 11 Patients with Erythropoietic Protoporphyria Including One with Homozygous Disease","volume":"143","author":"Herrero","year":"2007","journal-title":"Arch Dermatol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"26","DOI":"10.2119\/molmed.2012.00340","article-title":"Loss-of-function Ferrochelatase and Gain-Of-Function Erythroid-Specific 5- aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-linked Protoporphyria","volume":"19","author":"Balwani","year":"2013","journal-title":"Mol Med"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.ymgme.2019.01.020","article-title":"Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management","volume":"128","author":"Balwani","year":"2019","journal-title":"Mol Genet Metab"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1242\/dmm.027755","article-title":"Modeling the Ferrochelatase c.315-48C Modifier Mutation for Erythropoietic Protoporphyria (EPP) in Mice","volume":"10","author":"Barman-Aks\u00f6zen","year":"2017","journal-title":"Dis Model Mech"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1186\/1471-230X-10-57","article-title":"Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome","volume":"10","author":"Matsui","year":"2010","journal-title":"BMC Gastroenterol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/S0925-4439(98)00013-1","article-title":"Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II","volume":"1406","author":"Yamamoto","year":"1998","journal-title":"Biochim Biophys Acta"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1016\/j.bpg.2010.07.007","article-title":"Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome)","volume":"24","author":"Strassburg","year":"2010","journal-title":"Best Pract Res Clin Gastroenterol"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.1016\/j.jhep.2023.06.004","article-title":"Gilbert\u2019s syndrome revisited","volume":"79","author":"V\u00edtek","year":"2023","journal-title":"J Hepatol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"18016","DOI":"10.1038\/nrdp.2018.16","article-title":"Haemochromatosis","volume":"4","author":"Brissot","year":"2018","journal-title":"Nat Rev Dis Primers"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/S1474-4422(14)70190-5","article-title":"Wilson's disease and other neurological copper disorders","volume":"14","author":"Bandmann","year":"2015","journal-title":"Lancet Neurol"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/s41572-023-00456-z","article-title":"Glycogen storage diseases","volume":"9","author":"Hannah","year":"1970","journal-title":"Nat Rev Dis Primers"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1664961\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T05:31:20Z","timestamp":1758778280000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1664961\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,25]]},"references-count":14,"alternative-id":["10.3389\/fmed.2025.1664961"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2025.1664961","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,25]]},"article-number":"1664961"}}