Porphyria Cutanea Tarda in a 54-Year-Old Patient with a History of Hepatitis C: A Case Report

Background Porphyria CutaneaTarda (PCT) is the most common type of porphyria and is caused by a decrease in the activity of the hepatic enzyme uroporphyrinogen decarboxylase. It is expressed in both a sporadic form and genetic form and typically presents with cutaneous manifestations described as skin blisters in sun exposed areas. Case A 54-year-old male presented complaining of bullous itchy lesions on his hands and upper extremities that were at different stages of healing. Lab results were consistent with porphyria including elevated serum total porphyrins. He was scheduled for phlebotomy every other week for six weeks, hydroxychloroquine, minimize any sun exposure and to completely stop smoking. Conclusion Widespread skin lesions associated with underlying liver disease is a characteristic presentation for PCT. Hepatitis C is an antecedent risk factor for PCT, but can now be treated with antiviral therapy with the expectation of attainment of a sustained virologic response. Improvements in arresting progressive liver disease in Hepatitis C patients may improve PCT symptoms, as well. Keywords: Porphyria CutaneaTarda; Hepatitis C; Acquired liver disease.

The historical differential diagnosis of the disease that afflicted Aleijadinho, the famous 18th century Brazilian sculptor

ABSTRACT Background: The famous Brazilian Baroque sculptor named Antônio Francisco Lisboa, known as “Aleijadinho” (1738–1814), suffered from a deforming disease of the lower and upper limbs. The condition was characterized by atrophy, paresis and amputation. His face was also affected, with inflammation of the eyelids, deviation of the labial commissure, drooping of the chin and lower lip, giving him a sinister expression. Despite the disabling and chronic illness, he produced several works of great expression in the 18th and 19th centuries. Some of them were declared World Heritage Sites by United Nations Educational, Scientific and Cultural Organization (UNESCO). Objective: To discuss the historical differential diagnosis of Aleijadinho’s disease through a narrative review of the literature. Methods: Scientific articles were searched in databases such as Google Scholar, Pubmed and Lilacs using the term “Aleijadinho”. Subsequently, data were collected in articles and books about the possible diseases of the sculptor. Results: Since the first clinical report on the sculptor, several historians and doctors have attempted to establish a diagnosis and several hypotheses have been proposed such as: syphilis, yaws (frambesia tropica), rheumatoid arthritis, Hansen’s disease (leprosy), thromboangiitis obliterans (Buerger disease), zamparina, cardina, porphyria cutanea tarda, stroke, amyloidosis, trauma and/or scurvy. Conclusions: Based on the literature, the authors conclude that the most likely diagnosis of Aleijadinho’s disease is consistent with leprosy.

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda

Porphyria cutanea tarda is the most common type of porphyria. It is associated with a deficiency of uroporphyrinogen decarboxylase enzyme responsible for heme synthesis. Clinical manifestations are predominantly dermatological and very rarely present with ocular involvement. Although scleral thinning in the interpalpebral area is a well-documented entity, sight-threatening corneal involvement is rarely described. We, herein report a case of a 58-year-old man who presented with ocular surface dryness, photophobia and mild redness. Slit-lamp biomicroscopy revealed corneo-scleral thinning in both eyes. The diagnosis was confirmed with a urine porphyrin test, serum iron and serum ferritin levels. We started him on conservative management after which he was lost to follow-up. He presented again after 6 years with total corneal opacification and progressive loss of vision in the right eye.

Porphyria Cutanea Tarda and Patterns of Long-term Sick Leave and Disability Pension: a 24-year Nationwide Matched Cohort Study

Background: Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron overload. Data on the long-term morbidity of PCT is lacking. Methods: We conducted a nationwide matched cohort study over a 24-year period. The study sample included 534 persons aged 18-67 years with a biochemically confirmed PCT diagnosis and a sample of 21,360 persons randomly selected from the working age population, matched on age, sex and educational attainment. We investigated if persons with sporadic and familial PCT had an increased risk of long-term sick leave (LTSL) or disability pension. We further assessed risk before (pre-PCT), during (during-PCT) and after (post-PCT) the typical period of first onset to diagnosis, treatment and remission. Results: Overall, persons with PCT had a 40% increased risk (hazard ratio [HR]=1.4, 95% confidence interval [CI]=1.3, 1.5) of LTSL and a 50% increased risk (HR=1.5, CI=1.3, 1.7) of disability pension. Risk of disability pension was increased pre-PCT (HR=1.3, CI: 1.3 (1.0, 1.6), during-PCT (HR: 1.5, CI: 1.0, 2.2) and post-PCT (HR=2.0, CI: 1.5, 2.6). For LTSL, risk was increased pre-PCT (HR=1.3, CI: 1.1, 1.4) and during-PCT (HR=1.5, CI: 1.1, 2.1), but not post-PCT. Risk was greatest in persons with sporadic than familial PCT. Diagnostic reasons for disability pension that were increased compared to matched controls were PCT or skin disease in 11 of 199 cases (PCT: n=7, incident rate ratios [IRR]=49.2, CI=38.8, 62.4; diseases of the skin & subcutaneous tissue, n=4, IRR=4.2, CI=1.6, 11.0). The vast majority of diagnostic reasons for accessing disability pension were related to comorbidities, PCT susceptibility factors and more general health issues such as: malignant neoplasms (n=12, IRR=2.4, CI=1.4, 4.2), substance and alcohol dependence (n=7, IRR=5.0, CI=2.5, 10.1), neurotic and mood – disorders (n=21, IRR=1.7, CI=1.1, 2.6), and diseases of the musculoskeletal system & connective tissue (n=71, IRR=2.5, CI=1.9, 3.2).Conclusions: Persons with PCT have an increased risk of LTSL and disability pension indicating significant morbidity in this patient group. Appropriate long-term follow-up and monitoring for relapses and co-morbid diseases are recommended.