{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T05:04:56Z","timestamp":1783919096000,"version":"3.55.0"},"reference-count":9,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"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:p>Porphyria cutanea tarda (PCT) is a hepatic porphyria often triggered by hepatitis C virus (HCV) infection, iron overload, or environmental exposure. Congenital dyserythropoietic anemia type II (CDA II) caused by SEC23B mutations leads to ineffective erythropoiesis and secondary iron accumulation. We report a 34-year-old man with genetically confirmed SEC23B-mutated CDA II who developed photosensitive bullae associated with chronic HCV genotype 1b infection, hyperbilirubinemia, and severe iron overload. Urinary porphyrins were positive, and skin biopsy showed subepidermal bullae with PAS-positive deposits, supporting the diagnosis of PCT. After unsuccessful therapy with hydroxychloroquine, treatment with sofosbuvir\/velpatasvir achieved sustained virologic response, resolution of skin lesions, and marked ferritin reduction. This case illustrates that viral and metabolic stressors can trigger PCT in CDA II patients with possible hepatic involvement, underscoring the importance of recognizing combined genetic and infectious factors in rare hematologic disorders.<\/jats:p>","DOI":"10.3389\/fmed.2026.1817500","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T04:23:55Z","timestamp":1783916635000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: HCV-triggered porphyria cutanea tarda in a patient with SEC23B-mutated congenital dyserythropoietic anemia type II"],"prefix":"10.3389","volume":"13","author":[{"given":"Xianghong","family":"Jin","sequence":"first","affiliation":[{"name":"Department of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixuan","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianyong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junling","family":"Zhuang","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1274","DOI":"10.1182\/blood.2019000948","article-title":"Congenital dyserythropoietic anemias","volume":"136","author":"Iolascon","year":"2020","journal-title":"Blood"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1182\/blood-2012-01-292086","article-title":"The COPII pathway and hematologic disease","volume":"120","author":"Khoriaty","year":"2012","journal-title":"Blood"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.ymgme.2019.05.003","article-title":"Association between hepatitis C virus and porphyria cutanea tarda","volume":"128","author":"To-Figueras","year":"2019","journal-title":"Mol Genet Metab"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1432","DOI":"10.1111\/apt.15728","article-title":"Editorial: hepatitis 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observation","volume":"102","author":"Heimpel","year":"2003","journal-title":"Blood"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1016\/S0022-3476(00)90026-X","article-title":"Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II)","volume":"136","author":"Perrotta","year":"2000","journal-title":"J Pediatr"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"2343163","DOI":"10.1080\/16078454.2024.2343163","article-title":"Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome","volume":"29","author":"Jang","year":"2024","journal-title":"Hematology"}],"container-title":["Frontiers in 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