Cajamarca-Baron Jairo, Bonilla Crespo Juan Sebastian, Calderón Vásquez Angie Tatiana, Peña Adwar Peña, Moreno Julian M, Vargas Lina Patricia
Fundación Cardioinfantil - Instituto de Cardiología, Bogotá, Colombia.
Research Institute, Foundation University of Health Sciences (FUCS), Calle 163a #13B-60, Bogotá, Colombia.
J Med Case Rep. 2025 Jun 6;19(1):267. doi: 10.1186/s13256-024-04911-7.
Systemic lupus erythematosus is characterized by multiorgan involvement and the presence of autoantibodies. Porphyria cutanea tarda is a condition that affects the liver and skin by downregulating and inhibiting the enzyme uroporphyrinogen decarboxylase in erythrocytes. The presence of the two diseases simultaneously is rare, so we present this case report and a panoramic review of this uncommon association with scarce description found in the reviewed literature, in a patient with history of kidney transplant who is a user of immunosuppression and immunomodulation medications also required for the management of these diseases, which remains an unknown and unstudied scenario. We believe that it is important to publish this case so that any doctor in clinical practice who is faced with a patient of this complexity can refer to literature as a reference. In addition, articles of this type contribute to the clinical diagnostic and treatment approach.
A 62-year-old mestiza woman, immunosuppressed due to a history of renal transplantation, presented with vesicular lesions, hyperpigmentation, and hypertrichosis in photoexposed areas. She also reported changes in urine color upon photoexposure. Laboratory tests, including immune profiling, urine uroporphyrins, and histopathology, confirmed a diagnosis of cutaneous porphyria and systemic lupus erythematosus. The patient was started on low-dose antimalarial treatment with regular liver function monitoring, showing an adequate response.
In the review, 13 articles were found. Porphyria cutanea tarda combined with systemic lupus erythematosus is rarely reported, and the diagnosis of both pathologies becomes a challenge for physicians in diagnosis and treatment, as shown in this case, since porphyria can be the first and only manifestation of underlying systemic lupus erythematosus.
系统性红斑狼疮的特征是多器官受累及自身抗体的存在。迟发性皮肤卟啉病是一种通过下调和抑制红细胞中的尿卟啉原脱羧酶来影响肝脏和皮肤的疾病。这两种疾病同时存在的情况很少见，因此我们在此报告一例，并对这种罕见关联进行全面综述，目前在文献中相关描述较少。该病例为一名有肾移植病史的患者，正在使用免疫抑制和免疫调节药物来治疗这些疾病，这仍是一个未知且未被研究的情况。我们认为发表此病例很重要，以便任何在临床实践中遇到这种复杂患者的医生都能将文献作为参考。此外，这类文章有助于临床诊断和治疗方法的改进。
一名62岁的混血女性，因肾移植病史而处于免疫抑制状态，在光照暴露部位出现水疱性皮损、色素沉着和多毛症。她还报告光照后尿液颜色发生变化。实验室检查，包括免疫分析、尿卟啉检测和组织病理学检查，确诊为皮肤卟啉病和系统性红斑狼疮。患者开始接受低剂量抗疟治疗，并定期监测肝功能，显示出良好的反应。
在综述中，共发现13篇文章。迟发性皮肤卟啉病合并系统性红斑狼疮的报道很少，如本病例所示，两种疾病的诊断对医生的诊断和治疗都构成挑战，因为卟啉病可能是潜在系统性红斑狼疮的首发且唯一表现。
