Porphyria cutanea tarda and systemic lupus erythematosus: a case report

Abstract

Background: 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.

Case presentation: 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.

Conclusions: 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.

Keywords: Case report; Porphyria cutanea tarda; Systemic lupus erythematosus.

Fig. 1

Ulcerated lesions presented by the patient. Left hand: multiple lesions are present on the forearm, dorsal aspect of the hand, and fingers. The lesions appear as crusted ulcerated lesions with a central area that may show signs of healing. Some lesions have a slightly erythematous base, with possible surrounding hyperpigmentation. Right ankle: the lesion near the ankle is larger with a more pronounced crusted surface. There is also surrounding hyperpigmentation, which might be postinflammatory

Fig. 2

Changes in urine color with photoexposure. Urine was exposed to sunlight for 6 hours

Fig. 3

Liver biopsy. Findings: in the hematoxylin and eosin stain, multiple accumulations of fat in the hepatic parenchyma are observed, indicative of hepatic steatosis A (4x) and B (40x)). Prussian Blue staining (C) reveals iron deposits associated with siderosis at the level of reticuloendothelial cells

Fig. 4

Skin biopsy. On hematoxylin–eosin staining (A), an increase in the proliferation of blood vessels in the papillary dermis is observed. In images B (10x) and C (40x) with periodic acid–Schiff staining, a perivascular hyaline cuticle associated with extensive fibrosclerotic changes is evident. These changes can be better observed under Mallory’s trichrome staining (D), revealing the extensive deposition of collagen in the dermis. These findings are consistent with porphyria cuanae tarda