Porfiria cutánea tarda que simula esclerosis sistémica progresiva / Porphyria cutanea tarda mimicking progressive systemic sclerosis

Resumen Los síndromes esclerodermiformes suelen imitar muy bien una esclerosis sistémica progresiva, y es la presencia de ampollas cutáneas en áreas fotoexpuestas con hiperpigmentación los datos diferenciales para diagnosticar una porfiria. Presentamos el caso de un varón de 48 años con fotosensibilidad, fragilidad capilar, ampollas cutáneas e hiperpigmentación asociado a esclerodactilia, con pérdida cicatrizal distal de tejido en los dedos de las manos, que simuló a la perfección una esclerosis sistémica progresiva. La analítica mostró negatividad para anticuerpos antinucleares, antitopoisomerasa y anticentrómero, con valores altos de uroporfirinas en orina. El tratamiento con flebotomías e hidroxicloquina mejoró la fotosensibilidad y la fragilidad cutánea.

Abstract Sclerodermiform syndromes usually mimic progressive systemic sclerosis very well, with the presence of skin blisters in photo-exposed areas with hyperpigmentation being the differential data for diagnosing porphyria. We present the case of a 48-year old man with photosensitivity, capillary fragility, skin blisters, and hyperpigmentation associated with sclerodactyly with distal scar tissue loss on the fingers, which perfectly simulated progressive systemic sclerosis. The analysis showed negativity for antinuclear, antitopoisomerase and anticentromere antibodies, with high levels of uroporphyrins in urine. Phlebotomy and hydroxycloquine treatment improved photosensitivity and skin fragility.

Relación estructura-función de la enzima uroporfirinógeno descarboxilasa: implicancias para la comprensión y el tratamiento de la porfiria cutánea tarda / Structure-function relationship of the enzyme uroporphyrinogen decarboxylase: implications for the understanding and treatment of porphyria cutanea tarda / Relação estrutura-função da enzima uroporfirinogênio descarbioxilase: implicações para a compreensão e tratamento da porfiria cutânea tardia / Reconocimiento a la trayectoria del Prof. Dr. Juan Miguel Castagnino†

Resumen La uroporfirinógeno descarboxilasa humana (UROD-h) es la quinta enzima del camino biosintético del hemo y su actividad deficiente, relacionada a mutaciones en su gen, se encuentra asociada a un subgrupo de porfirias. El objetivo de este trabajo fue estudiar la relación entre la dimerización de la enzima y su actividad enzimática y comprobar si la dimerización de UROD-h es imprescindible tanto para la primera etapa de la reacción (urogen→heptagen), como para la segunda etapa (heptagen→coprogen). Con ese objetivo, se expresó y purificó la UROD-h hasta homogeneidad, se analizó el comportamiento dímero-monómero bajo distintas condiciones que pudieran desplazar el equilibrio de dimerización y se evaluó la actividad enzimática en dichas condiciones. Los resultados obtenidos sugieren que la especie activa para la primera etapa de la reacción es el homodímero y que tanto el dímero como el monómero se comportan como especies activas para la segunda etapa de la reacción. Se propone que mutaciones clínicas como la Y311C, existentes en pacientes con porfiria cutánea tarda, podrían afectar la estabilidad del dímero y podrían ser el blanco para futuras terapias génicas.

Abstract Human uroporphyrinogen decarboxylase (UROD-h) is the fifth enzyme in the heme biosynthetic pathway and its deficient activity, related to mutations in its gene, is associated with a subset of porphyrias. The objective of this work was to study the relationship between the dimerisation of the enzyme and its enzymatic activity and to verify if the dimerisation of UROD-h is essential both for the first stage of the reaction (urogen→heptagen), and for the second stage (heptagen→ coprogen). With this objective, the UROD-h was expressed and purified to homogeneity, the dimer- monomer behaviour was analysed under different conditions, which could shift the dimerisation equilibrium, and the enzymatic activity was evaluated under these conditions. The results obtained suggest that the active species for the first stage of the reaction is the homodimer, and both the dimer and the monomer behaved as active species for the second stage of the reaction. It is proposed that clinical mutations such as Y311C, existing in porphyria cutanea tarda patients, could affect dimer stability and could be the target of future gene therapies.

Resumo A enzima uroporfirinogênio descarboxilase humana (UROD-h) é a quinta enzima da via biossintética do heme e sua atividade deficiente, relacionada com mutações em seu gene, está associada a um subgrupo de porfirias. O objetivo deste trabalho foi estudar a relação entre a dimerização da enzima e sua atividade enzimática e comprovar se a dimerização da UROD-h é imprescindível tanto para a primeira etapa da reação (urogênio→heptagênio), quanto para a segunda etapa (heptagênio→coprogênio). Com esse objetivo, a UROD-h foi expressa e purificada até a homogeneidade, o comportamento de dímero-monômero foi analisado sob diversas condições, que puderam deslocar o equilíbrio de dimerização, e a atividade enzimática foi avaliada em tais condições. Os resultados obtidos sugerem que a espécie ativa para a primeira etapa da reação é o homodímero, e tanto o dímero quanto o monômero se comportam como espécies ativas para a segunda etapa da reação. Propõe-se que mutações clínicas como Y311C, existentes em pacientes com porfiria cutânea tardia, poderiam afetar a estabilidade do dímero e poderiam ser o alvo de futuras terapias gênicas em porfiria cutânea tardia.

Estudio evolutivo de metabolitos porfirínicos de un caso de porfiria cutánea tardía / Porphyrins in a case of porphyria cutanea tarda: follow-up study

Resumen Las porfirias son errores congénitos poco frecuentes del metabolismo de las porfirinas. La porfiria cutánea tardía (PCT) es la más frecuente dentro de este grupo de enfermedades. Reportamos el estudio evolutivo de metabolitos porfirínicos de una paciente de 51 años con porfiria cutánea tardía, cuatro años después de su diagnóstico. Durante este período, se le indicó un esquema terapéutico de flebotomías en el Instituto de Hematología e Inmunología. Uno de los exámenes complementarios para su seguimiento fue la determinación de porfirinas totales en la orina, plasma y heces. Los resultados del estudio bioquímico de las porfirinas mostraron mejoría en todos los parámetros, lo que contribuyó a corroborar la utilidad del estudio de estos metabolitos como seguimiento de esta enfermedad y efectividad del tratamiento.

Abstract Porphyrias are rare congenital errors in the metabolism of porphyrins. Porphyria cutanea tarda is the most frequent among different types of porphyrias. We report the follow-up study of porphyrin metabolites of a 51-year-old patient with porphyria cutanea tarda four years later of her diagnosis. During this period, it was indicated a therapeutic scheme of phlebotomies in the Institute of Hematology and Immunology. One of the complementary examinations for its follow-up was the determination of total porphyrins in the urine, plasma and feces. Porphyrins in plasma decreased from 13 500 nmol/L at onset of disease to 250 nmol/L four years later. Although, porphyrins in feces and plasma could not quantify, we observed non-presence of peaks at 405 nm and 615.1 nm, respectively. These results contributed to corroborate the usefulness of the study of these metabolites for monitoring of this disease and effectiveness of the treatment.

Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C

Abstract: A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported. Chronic hepatitis C and presence of high levels of porphyrins in urine were demonstrated. There was complete remission with the use of hydroxychloroquine, photoprotection, and treatment of hepatitis. Significant sclerodermoid involvement of the skin as a manifestation of porphyria cutanea tarda secondary to hepatitis C emphasizes the importance of diagnostic suspicion regarding skin manifestation in order to indicate the appropriate therapy, and to minimize the hepatic morbidity.

Porfiria cutánea tarda: caso clínico / Porphyria cutanea tarda: case report

Porphyria cutanea tarda (PCT) is the most common type of porphyria: it is characterized by blistering lesions, erosions and crusts on the back of the hands, associated with photosensitivity and facial hypertrichosis. It is produced by acquired or hereditary deficiency of the enzyme UROD, fifth enzyme in the chain of production of the Heme group. This causes accumulation of porphyrins in the liver, which are subsequently mobilized to the skin, where lesions are generated by photosensitivity. This deficiency can be exacerbated by multiple causes. We report a 51-year-old female presenting with the characteristic dermal lesions described above, which disappeared when she discontinued her hormone replacement therapy with estradiol and dydrogesterone. Urinary and blood uroporphyrin and hexacarboxyl porphyrins were elevated and plasma ferritin was 479 ng/ml. Hormone replacement therapy was discontinued and phlebotomies were attempted but not tolerated by the patient. The dermic lesions have not relapsed.

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)

Abstract: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

Porfiria cutánea tarda como manifestación extrahepática de hepatitis C crónica: reporte de un caso / Porphyria cutanea tarda as extrahepatic manifestation of chronic hepatitis C: a case report

Se presenta el caso de un paciente varón de 56 años quien es evaluado por presentar a nivel del dorso de ambas manos cicatrices hiperpigmentadas e hipopigmentadas, asociadas a quistes de milia. Se le realizó estudios del metabolismo de las porfirinas y biopsia cutánea de las lesiones los cuales resultaron compatibles con porfiria cutánea tarda. En el laboratorio inicial se encontró elevación de los valores de transaminasas, identificándose posteriormente infección crónica por virus de hepatitis C. Con la finalidad de tratar la infección viral y resolver el compromiso dérmico, considerado como manifestación extrahepática del virus hepatitis C, se inició tratamiento con interferón pegilado y ribavirina evolucionando favorablemente con respuesta viral rápida, carga viral no detectable hasta la actualidad (36 semanas de tratamiento), disminución del nivel de transaminasas séricas y mejoría de las lesiones dérmicas.

The present case is a 56 year old male who present hyperpigmented and hypopigmented scars in both hands, associated with the presence of milia cysts. It was studied the metabolism of porphyrins and skin biopsy of the lesions which were compatible with porphyria cutanea tarda. In the initial laboratory, elevated transaminases values were found and subsequently identified chronic infection of hepatitis C virus. In order to treat viral infection and resolve the dermal commitment; considered extrahepatic manifestation of hepatitis C virus, treatment was started with pegylated interferon and ribavirin, with favorably development and rapid viral response, with undetectable viral load until now (24 weeks of treatment), decreased level of serum transaminases and improvement of skin lesions.

Porfiria cutánea tarda familiar: Presentación de un caso y revisión de la literatura / Cutaneous porphyria tarda familiar: presentation of a case and review of the literature

La porfiria cutánea tarda (PCT) es una enfermedad metabólica, crónica, que se produce por fallas en el metabolismo del hemo, debidas a deficiencia en la actividad de la enzima URO decarboxilasa. Se produce con más frecuencia en el sexo masculino y en adultos de mediana edad. Se clasifica en adquiridas y familiares, estas últimas de menor frecuencia, de acuerdo al antecedente familiar y al sitio de actividad de la enzima UROD. Las manifestaciones clínicas características son fragilidad cutánea, hipertricosis, fotosensibilidad y ampollas en áreas fotoexpuestas. El tratamiento de la enfermedad consiste en discontinuar los factores desencadenantes, reducir la sobrecarga hepática de hierro a través de flebotomías o el uso de antipalúdicos para movilizar el exceso de porfirinas. Presentamos el caso de una paciente femenina, con antecedente materno de PCT, que presentó manifestaciones clínicas en la adolescencia, asociado a factores desencadenantes y con excelente respuesta al tratamiento con flebotomías (AU)

Porphyria cutanea tarda (PCT) is a chronic metabolic disease caused by failures in heme metabolism, due to deficiency in the activity of the enzyme URO decarboxylase. Men and middle-age adults are often more affected. According to family history and the site of enzyme activity, PCT is classified in acquired or familial. Clinical features are skin fragility, hypertrichosis, photosensitivity and blisters on sun-exposed areas. Treatment of this disease is based on discontinuing the triggers, reduce liver iron overload trough phlebotomies or the use of antimalarial agents to mobilize excess porphyrins. A case of a female patient with a maternal history of PCT who presented clinical manifestations in adolescence, associated with triggers factors and excellent response to treatment with phlebotomies is reported (AU)

Porphyria cutanea tarda in a HIV- positive patient

Abstract: This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of uroporphyrinogen decarboxylase (Urod), which may be hereditary or acquired. Several studies suggest that HIV infection associated with cofactors might trigger the development of porphyria cutanea tarda. In this case report, we present a patient infected with HIV, who after the introduction of antiretroviral therapy (ART) enjoyed clinical improvement of porphyria cutanea tarda symptoms.

Porphyria Cutanea Tarda in a Hemodialysis Patient / 대한피부과학회지

No abstract available.

Porfiria cutánea tarda: revisión de la literatura a propósito de un caso / Porphyria cutanea tarda: a case report and literature review

La porfiria cutánea tarda (PCT) es el tipo más frecuente de porfiria, conjunto de enfermedades metabólicas, sistémicas, caracterizadas por una alteración en la síntesis del grupo hemo. La PCT se considera parte de las fotodermatosis, y puede subdividirse en variedad familiar o esporádica. El principal factor precipitante es el consumo excesivo de alcohol, y se manifiesta clínicamente como fragilidad cutánea con formación de vesículas en zonas fotoexpuestas, principalmente dorso de manos y cara, con prurito ocasional en zonas afectadas. En algunos casos se puede ver hipertricosis facial e hiperpigmentación. No presenta síntomas sistémicos. La cuantificación de porfirinas en orina confirma el diagnóstico. Se puede tratar con medidas generales, sangrías y/o antimaláricos en dosis bajas, con buena respuesta. Puede recurrir después de meses o años, por lo que requiere control de por vida. Se presenta el reporte de un caso con características clínicas clásicas y revisión bibliográfica actualizada de esta entidad.

Porphyria cutanea tarda (PCT) is the most common type of porphyria, a group of systemic metabolic diseases, characterized by defects in the heme production. PCT is considered amongst the photodermatoses, and may be classified as familial or sporadic. The main precipitating factor is excessive alcohol consumption, and it presents clinically with skin fragility and vesicle formation on photoexposed areas, mainly the back of the hands and face. Some patients may show hypertrichosis, hyperpigmentation, and pruritus. There are no systemic symptoms associated with this condition. Quantification of porphyrins in urine confirms the diagnosis. Treatment options include general measures, blood letting, and/or low dose antimalarials, usually with good results. This disease may recur months or years after treatment, determining the need for lifelong follow-up. We present a case with a classical clinical presentation, along with an updated review of the literature.

Porphyria cutanea tarda and Sjogren's syndrome

Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea tarda associated with primary sjogren's syndrome.

Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina.

Aims: Porphyria Cutanea Tarda (PCT), the most common of porphyrias is triggered by several factors, including iron overload. Type I Hereditary Hemochromatosis is inherited as an autosomal recessive trait of the mutation p.C282Y or as a compound heterozygous form p.C282Y/p.H63D in HFE gene. Our aim was to study the frequency of HFE mutations in Argentinean PCT patients and in control subjects. Place and Duration of Study: CIPYP, CONICET, Hospital de Clínicas José de San Martín: Av. Córdoba 2351, 1º subsuelo, Buenos Aires, Argentina (1120). Between March 2008 and March 2010. Methodology: We analyzed HFE mutations in 103 PCT patients (67 males, 36 females) and in 93 control subjects (63 males and 30 females). PCT patients were classified as familial, sporadic or Type III PCT measuring URO-D activity in red blood cells. HFE mutations were detected by amplification and automatic sequencing of exons 2 and 4 in the HFE gene. In some cases p.H63D and p.C282Y mutations were also detected by digestion with restriction enzymes (Mbo I for p.H63D and Rsa I for p.C282Y), followed by 3% polyacrilamide gel electrophoresis. Results: In PCT group, 34.9% carried mutation p.H63D (26.2% heterozygous, 5.8% homozygous and 2.9% as p.C282Y/p.H63D) and 7.8% carried mutation p.C282Y (2.9% in heterozygocity, 1.9% in homozygocity and 2.9% as p.C282Y/p.H63D). In the control group, 30.1% carried p.H63D (28% in heterozygous and 2.1% in homozygous), and 5.4% had p.C282Y in heterozygosity. There were no significant differences between sporadic and familial PCT and neither between PCT and control groups. Our findings are in agreement with the prevalence of the Mediterranean origin of our patients, where p.C282Y mutation is less common than p.H63D mutation. Conclusion: We conclude that mutations in HFE gene do not play a relevant role in the triggering of PCT in our country.

Aspectos patognomônicos da doença de Günther / Pathognomonic aspects of Günther?s disease

A doença de Günther ou porfiria eritropoiética congênita é uma desordem autossômica recessiva. Causada por um defeito na enzima uroporfirinogênio III sintase, leva a um acúmulo de isômeros não fisiológicos e patogênicos da porfirina. As manifestações clínicas da doença incluem eritrodontia, hipertricose, fragilidade óssea, complicações oculares, anemia hemolítica e fotossensibilidade extrema. Apesar da escassa literatura científica atualizada sobre a doença de Günther, realizou-se esta revisão bibliográfica com a finalidade de descrever pontos importantes da etiologia, diagnóstico, prognóstico, tratamento e prevenção dessa patologia. Foram consultadas as bases de dados Pubmed, Lilacs e SciELO determinando as buscas pelas palavras-chaves: porfiria eritropoiética, porfirias, porfiria cutânea tardia, porfiria variegata, porfiria hepatoeritropoiética e erros inatos do metabolismo. Pacientes com a doença de Günther podem apresentar as piores manifestações cutâneas de todas as porfirias, isso se dá devido ao aumento de porfirinas lipossolúveis que se depositam na pele. Na idade adulta os pacientes podem desenvolver osteólise severa, ressorção de falanges terminais, contraturas e outras deformidades. A deficiência de vitamina D, decorrente da não exposição ao sol, pode contribuir para tais anormalidades na estrutura do osso. Manifestações oculares incluem conjuntivite, blefarite, fotofobia, cataratas, perda de cílios e sobrancelhas e cicatriz na córnea, o que pode levar à cegueira. A doença de Günther apresenta uma variabilidade clínica considerável. Embora os tratamentos disponíveis sejam limitados, o prognóstico nem sempre é desfavorável.

Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients / Fatores precipitantes na porfiria cutanea tardia no Brasil com enfase nas mutacoes do gene (HFE) da hemocromatose. Estudo de 60 casos

BACKGROUND: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. OBJECTIVES: Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations. METHODS: An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR. RESULTS: Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors. CONCLUSIONS: Alcohol abuse, hepatitis C and ...

FUNDAMENTOS: A porfiria cutânea tardia é a forma mais comum das porfirias e caracteriza-se pela diminuição da atividade da enzima uroporfirinogênio descarboxilase. Há vários relatos da associação das mutações do gene HFE da hemocromatose hereditária com porfiria cutânea tardia no mundo, mas até hoje apenas um estudo foi realizado no Brasil. OBJETIVOS: Estudar a associação da porfiria cutânea tardia com as mutações C282Y e H63D do gene HFE. Identificar os fatores precipitantes (hepatite C, HIV, etilismo e estrógeno) e sua relação com as mutações HFE. MÉTODOS: Estudo ambispectivo de 60 pacientes com porfiria cutânea tardia no período de 2003 a 2012. Investigou-se as sorologias para hepatite C, anti-HIV, histórico de etilismo e ingestão de estrógenos. As mutações HFE foram identificadas com PCR em tempo real. RESULTADOS: A porfiria cutânea tardia predominou no sexo masculino e o etilismo foi o principal fator precipitante. A ingestão de estrógenos foi o único fator precipitante em 25% das mulheres. A hepatite C estava presente em 41,7%. Todos os pacientes com HIV (15,3%) apresentavam etilismo associado. A frequência dos alelos C282Y (p=0,0001) e H63D (p=0,0004) do gene HFE foi significativamente mais elevada nos pacientes com porfiria cutânea tardia em relação à população controle. ...

Histoplasmosis diseminada subaguda en el contexto de VIH y porfiria cutánea tarda. A Propósito de un caso / Subacute disseminated histoplasmosis in a patient with HIV and porphyria cutanea tarda. A case report

La histoplasmosis es una micosis sistémica endémica en la República Argentina.Es la infección micótica profunda más ampliamente extendida en el mundo. Se ha convertido en una infección oportunista cada vez más frecuente entre los pacientes con un sistema inmune deteriorado por agentes farmacológicos o por el virus de la inmunodeficiencia humana (VIH).Presentamos un caso de histoplasmosis diseminada subaguda en un paciente con antecedentes de Porfiria Cutánea Tarda(PCT) e infección por VIH que representó un desafío diagnóstico dado a la similitud de las lesiones de histoplasmosis con PCT.

Histoplasmosis is a deep fungal endemic infection in Argentina and world widely. It has become an opportunistic infectionincreasingly among patients with an impaired immune system due to pharmacological agents or HIV.A case of subacute disseminated histoplasmosis in a patient with a history of HIV and Porphyria Cutanea Tarda (PCT), representinga diagnostic challenge by the similar clinical appearance between histoplasmosis and PCT lesions is reported.

Fotossensibilidade amplificada? Relato de porfiria cutânea tarda associada a lúpus eritematoso sistêmico / Increased photosensitivity? Case report of porphyria cutanea tarda associated with systemic lupus erythematosus

A associação de porfiria cutânea tarda (PCT) e lúpus eritematoso sistêmico (LES) é rara. O LES, de fisiopatologia complexa e manifestações clínicas pleomórficas, assemelha-se à PCT pela fotossensibilidade. Um achado que pode diferenciar as duas doenças são as lesões cutâneas bolhosas, raras no LES, mas características da PCT. Descrevemos um caso de associação de PCT e LES e revisamos a literatura, enfatizando questões fisiopatológicas, clínicas e terapêuticas. Um dado relevante para a prática clínica concerne ao tratamento do lúpus com antimaláricos, o que pode oferecer riscos para a PCT.

The association of porphyria cutanea tarda (PCT) and systemic lupus erythematosus (SLE) is rare. Systemic lupus erythematosus, of complex pathophysiology and pleomorphic clinical manifestations, is similar to PCT regarding photosensitivity. One finding that can differentiate both diseases is the presence of cutaneous blisters, which are rare in SLE, but characteristic of PCT. We report one case of the association of PCT and SLE and revise the literature, emphasizing pathophysiological, clinical and therapeutic aspects. One relevant information for clinical practice relates to the treatment of SLE with antimalarials, which is a risk for PCT.

HAART: a risk factor for development of porphyria cutanea tarda? / HAART: fator de risco para desenvolvimento de porfiria cutânea tarda?

Porphyria cutanea tarda (PCT) is caused by inherited or acquired partial deficiency of the uroporphyrinogen-decarboxylase (Uro-D) enzyme activity. It is the most common form of porphyria. The main triggering factors to the development of porphyria cutanea tarda are alcohol, hepatitis C virus and human immunodeficiency virus. There are several reports of PCT associated with drugs, among them, antiretroviral therapy. We describe three HIV-positive patients, which showed photosensitivity as well as the emergence of tense blisters on sun-exposed areas during the use of highly active antiretroviral therapy (HAART) and discuss the possibility of PCT after the use of these drugs by those patients.

Porfiria cutanea tarda (PCT) é causada pela deficiência parcial, adquirida ou hereditária, da atividade da enzima uroporfirinogenio-decarboxilase (Uro-D). É a forma mais comum de porfiria. Os principais fatores desencadeantes para o desenvolvimento da porfiria cutânea tarda são o álcool, vírus da hepatite C e vírus da imunodeficiência humana. Há vários relatos de PCT associada a drogas, entre elas, à terapia antirretroviral. Descrevemos três pacientes HIV-positivos, que mostraram fotossensibilidade, bem como o surgimento de bolhas tensas em áreas fotoexpostas durante o uso da highly active antiretroviral therapy (HAART) e discutimos a possibilidade de ocorrência PCT com o uso desses medicamentos.

Manifestações dermatológicas em pacientes portadores do vírus da Hepatite C / Dermatologic manifestations in patients with Hepatitis C virus: review article

Desde a descoberta do vírus da hepatite C (VHC), em 1989, a hepatite C passou a ganhar especial relevância entre as causas de doença hepática crônica no mundo. Estima-se que aproximadamente 3% da população mundial estejam infectados pelo vírus da hepatite C, o que representa cerca de 170 milhões de indivíduos com infecção crônica e sob risco de desenvolver as complicações da doença. Trata-se, portanto, de um dos maiores problemas de saúde pública enfrentados mundialmente. A infecção pelo VHC está associada a um amplo espectro de manifestações clínicas: hepáticas, sistêmicas e cutâneas. As manifestações cutâneas são muitas vezes os primeiros sinais da infecção pelo VHC. Os médicos devem estar atentos a estas manifestações, pois o diagnóstico precoce é importante para o sucesso terapêutico. Deve-se suspeitar de contaminação pelo VHC em pacientes que apresentem: crioglobulinemia mista, liquen plano, livedo reticular, poliarterite nodosa, porfiria cutânea tarda, prurido e urticária crônica.

Since the discovery of hepatitis C virus (HCV) in 1989, hepatitis C has been gaining special importance among the causes of chronic liver disease worldwide. It is estimated that approximately 3% of world population are infected with hepatitis C, which represents about 170 million people chronically infected and at risk of developing complications of the disease. It is therefore a major public health problems facing the world². HCV infection is associated with a broad spectrum of clinical manifestations: liver, skin and systemic. Cutaneous manifestations are often the first signs of HCV infection. Physicians should be aware of these manifestations, because early diagnosis is important for successful treatment. Should be suspected of contamination by HCV in patients who have: mixed cryoglobulinemia, lichen planus, livedo reticularis, polyarteritis nodosa, porphyria cutanea tarda, pruritus and chronic urticaria.

Porfiria cutânea tarda e lúpus eritematoso sistêmico / Porphyria cutanea tarda and systemic lupus erythematosus

A associação de lúpus eritematoso sistêmico e porfiria, embora rara, é conhecida de longa data. Ela obriga o médico a realizar um cuidadoso diagnóstico diferencial das lesões bolhosas nesses pacientes e tomar cuidados com a prescrição de certas drogas, como a cloroquina. Esta, nas doses habituais para tratamento do lúpus, pode causar hepatotoxicidade em pacientes com porfiria. Descreve-se o caso de uma paciente com lúpus que desenvolveu lesões bolhosas compatíveis com porfiria cutânea tardia.

The co-existence of systemic lupus erythematosus and porphyria although rare has been known for a long time. This association forces the physician to make a careful differential diagnosis of the bullous lesions that might appear in such patients and to be careful when prescribing certain drugs such as chloroquine. This drug, when used in the regular doses for treating lupus, may cause hepatotoxicity in patients.suffering from porphyria. It is described here the case of a patient with lupus who developed bullous lesions compatible with porphyria cutanea tarda.