Orlando Emmanuel Falcón-Antonio, David Aguirre-Villarreal, Froylan David Martínez-Sánchez, Ignacio García-Juárez
{"title":"成年女性光敏性黄疸1例。","authors":"Orlando Emmanuel Falcón-Antonio, David Aguirre-Villarreal, Froylan David Martínez-Sánchez, Ignacio García-Juárez","doi":"10.14309/crj.0000000000001797","DOIUrl":null,"url":null,"abstract":"<p><p>This was the case of a 21-year-old woman with longstanding photosensitivity who developed progressive jaundice and liver dysfunction. The initial workup excluded common hepatobiliary and autoimmune causes. Skin and liver biopsies revealed characteristic histological features, including hyaline dermal deposits and birefringent pigments in the hepatic canaliculi. Elevated erythrocyte protoporphyrin levels and genetic testing confirmed erythropoietic protoporphyria with hepatic involvement. Despite supportive care, she required liver transplantation and later died of infectious complications. This case underscores the importance of considering porphyria in patients with combined cutaneous and hepatic manifestations and highlights the diagnostic value of clinicopathological correlations.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 8","pages":"e01797"},"PeriodicalIF":0.5000,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12321480/pdf/","citationCount":"0","resultStr":"{\"title\":\"Jaundice in an Adult Female Patient With Photosensitivity.\",\"authors\":\"Orlando Emmanuel Falcón-Antonio, David Aguirre-Villarreal, Froylan David Martínez-Sánchez, Ignacio García-Juárez\",\"doi\":\"10.14309/crj.0000000000001797\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>This was the case of a 21-year-old woman with longstanding photosensitivity who developed progressive jaundice and liver dysfunction. The initial workup excluded common hepatobiliary and autoimmune causes. Skin and liver biopsies revealed characteristic histological features, including hyaline dermal deposits and birefringent pigments in the hepatic canaliculi. Elevated erythrocyte protoporphyrin levels and genetic testing confirmed erythropoietic protoporphyria with hepatic involvement. Despite supportive care, she required liver transplantation and later died of infectious complications. This case underscores the importance of considering porphyria in patients with combined cutaneous and hepatic manifestations and highlights the diagnostic value of clinicopathological correlations.</p>\",\"PeriodicalId\":7394,\"journal\":{\"name\":\"ACG Case Reports Journal\",\"volume\":\"12 8\",\"pages\":\"e01797\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-08-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12321480/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACG Case Reports Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14309/crj.0000000000001797\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/8/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACG Case Reports Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14309/crj.0000000000001797","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Jaundice in an Adult Female Patient With Photosensitivity.
This was the case of a 21-year-old woman with longstanding photosensitivity who developed progressive jaundice and liver dysfunction. The initial workup excluded common hepatobiliary and autoimmune causes. Skin and liver biopsies revealed characteristic histological features, including hyaline dermal deposits and birefringent pigments in the hepatic canaliculi. Elevated erythrocyte protoporphyrin levels and genetic testing confirmed erythropoietic protoporphyria with hepatic involvement. Despite supportive care, she required liver transplantation and later died of infectious complications. This case underscores the importance of considering porphyria in patients with combined cutaneous and hepatic manifestations and highlights the diagnostic value of clinicopathological correlations.
期刊介绍:
ACG Case Reports Journal is a peer-reviewed, open-access publication that provides GI and hepatology fellows, private practice clinicians, and other healthcare providers an opportunity to share interesting case reports with their peers and with leaders in the field. ACG Case Reports Journal publishes case reports, images, videos and letters to the editor in all topics of gastroenterology and hepatology, including: Biliary Colon Endoscopy Esophagus Functional Bowel Disorders Inflammatory Bowel Disease Liver Nutrition and Obesity Pancreas Pathology Pediatric Small Bowel Stomach.