Falcón-Antonio Orlando Emmanuel, Aguirre-Villarreal David, Martínez-Sánchez Froylan David, García-Juárez Ignacio
Department of Pathology, Instituto Nacional de Ciencias Medicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15, Tlalpan, Ciudad de Mexico, Mexico.
Department of Gastroenterology, Division of Hepatology, Instituto Nacional de Ciencias Medicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15, Tlalpan, Ciudad de Mexico, Mexico.
ACG Case Rep J. 2025 Aug 4;12(8):e01797. doi: 10.14309/crj.0000000000001797. eCollection 2025 Aug.
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.
这是一名21岁患有长期光敏性的女性病例,她出现了进行性黄疸和肝功能障碍。初步检查排除了常见的肝胆和自身免疫性病因。皮肤和肝脏活检显示出特征性的组织学特征,包括透明的真皮沉积物和肝小管中的双折射色素。红细胞原卟啉水平升高和基因检测证实为伴有肝脏受累的红细胞生成性原卟啉病。尽管给予了支持性治疗,但她仍需要进行肝移植,后来死于感染性并发症。该病例强调了在有皮肤和肝脏联合表现的患者中考虑卟啉病的重要性,并突出了临床病理相关性的诊断价值。