RESUMO
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.
Assuntos
Porfiria Cutânea Tardia , Escleroderma Sistêmico , UroporfirinasRESUMO
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.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Esclerodermia Localizada/etiologia , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologia , Hepatite C Crônica/complicações , Hepatite C Crônica/patologia , Esclerodermia Localizada/patologia , Esclerodermia Localizada/terapia , Resultado do Tratamento , Porfiria Cutânea Tardia/terapia , Hepatite C Crônica/terapia , Alopecia/etiologiaRESUMO
ABSTRACT Introduction: Pseudoporphyria is a rare photodermatosis with characteristics similar to those of porphyria cutanea tarda, without, however, presenting abnormalities in porphyrin metabolism. Its etiology is related to chronic kidney disease, ultraviolet radiation and certain medications. The aim of the present study is to describe a case of furosemide-related pseudoporphyria in a patient with chronic kidney disease. Case description: A 76-year-old male patient with stage 4 chronic kidney disease and in continuous use of furosemide presented ulcerated lesions with peripheral erythema and central hematic crust in the legs. On a skin infection suspicion, treatment with quinolone and neomycin sulfate was initiated, without improvement. A biopsy of the lesion was performed, with histopathological examination demonstrating findings compatible with porphyria, although the patient did not present high porphyrin levels. The diagnosis of furosemide-induced pseudoporphyria was then established, with medication suspension, and there was a significant improvement of the lesions. Discussion: There are few cases of pseudoporphyria described, but it is believed that this condition is underdiagnosed, especially in patients with chronic kidney disease. Both clinical and histopathological findings closely resemble porphyria, differentiating it from normal levels of porphyrin in plasma, urine, or feces. Conclusions: Although the lesions are mostly benign, they may increase the morbidity and mortality of these patients, so a proper diagnosis and early treatment are extremely important.
RESUMO Introdução: A pseudoporfiria é uma fotodermatose rara com características semelhantes às da porfiria cutânea tardia, sem, no entanto, apresentar anormalidades no metabolismo da porfirina. Sua etiologia está relacionada a doença renal crônica, radiação ultravioleta e determinados medicamentos. O objetivo do presente trabalho é descrever um caso de pseudoporfiria relacionada a furosemida em paciente portador de doença renal crônica. Descrição do caso: Paciente masculino, 76 anos, com doença renal crônica estágio 4 e em uso contínuo de furosemida, apresentou lesões ulceradas com eritema periférico e crosta hemática central nas pernas. Por suspeita de infecção de pele, foi iniciado tratamento com quinolona e sulfato de neomicina, sem melhora. Foi realizada então biópsia da lesão, com exame histopatológico demonstrando achados compatíveis com porfiria, sem, no entanto, o paciente apresentar níveis elevados de porfirinas. Foi então estabelecido o diagnóstico de pseudoporfiria induzida por furosemida, com suspensão de medicação , e houve melhora significativa das lesões. Discussão: Há poucos casos de pseudoporfiria descritos, mas acredita-se que essa condição seja subdiagnosticada, principalmente em pacientes com doença renal crônica. Tanto achados clínicos quanto histopatológicos se assemelham muito à porfiria, diferenciando desta por níveis normais de porfirina no plasma, na urina ou nas fezes. Conclusões: Embora as lesões sejam majoritariamente benignas, podem aumentar a morbimortalidade desses pacientes, por isso um diagnóstico adequado e tratamento precoce são de extrema importância.
Assuntos
Humanos , Masculino , Idoso , Porfiria Cutânea Tardia/induzido quimicamente , Diuréticos/efeitos adversos , Furosemida/efeitos adversos , Diuréticos/uso terapêutico , Insuficiência Renal Crônica/tratamento farmacológico , Furosemida/uso terapêuticoRESUMO
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.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/induzido quimicamente , Terapia de Reposição Hormonal/efeitos adversos , Didrogesterona/efeitos adversos , Estradiol/efeitos adversosRESUMO
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.
Assuntos
Humanos , Porfiria Cutânea Tardia/genética , População Branca/genética , Brasil/etnologia , Marcadores Genéticos/genética , Estudos Transversais , GenótipoRESUMO
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.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/etiologia , Hepatite C Crônica/complicações , Antivirais/uso terapêutico , Ribavirina/uso terapêutico , Biópsia , Deformidades Adquiridas da Mão/etiologia , Deformidades Adquiridas da Mão/patologia , Interferons/uso terapêutico , Hepatite C Crônica/diagnóstico , Hepatite C Crônica/tratamento farmacológico , Quimioterapia CombinadaRESUMO
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)
Assuntos
Humanos , Feminino , Adulto , Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/genética , Uroporfirinogênio Descarboxilase/deficiênciaRESUMO
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.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Infecções por HIV/complicações , Porfiria Cutânea Tardia/patologia , Porfiria Cutânea Tardia/virologia , Pele/patologia , Uroporfirinogênio Descarboxilase/urina , Infecções por HIV/tratamento farmacológico , Fatores de Risco , Porfiria Cutânea Tardia/tratamento farmacológico , Terapia Antirretroviral de Alta AtividadeRESUMO
No abstract available.
Assuntos
Humanos , Falência Renal Crônica , Porfiria Cutânea Tardia , Porfirias , Diálise RenalRESUMO
As porfirias são doenças raras que decorrem de deficiência enzimática em uma das oito enzimas que compõem a cadeia de biossíntese do heme e possuem manifestações clínicas variadas. Na maior parte das vezes, são distúrbios hereditários embora existam formas adquiridas. Apresentam ampla interação entre fatores genéticos e fatores ambientais. As manifestações clínicas dependem do tipo de porfirina acumulada, do local onde esta é produzida (fígado ou medula óssea), se acumula da maneira que a mesma é excretada e do mecanismo de toxicidade desta (neurotoxicidade, fotossensibilidade ou ambos). Relatamos um caso de uma paciente do sexo feminino com diagnóstico de cirrose hepática secundária à porfiria que possuía sobrecarga de ferro em exames laboratoriais, sendo descartada a presença de cirrose secundária à hemocromatose.
The porphyrias are rare diseases that result from enzyme deficiency in one of eighteen zymesthat make up the chainof heme biosynthesis and have varied clinical manifestations. In most cases are hereditary disorders, although there are acquired forms. They feature wide interaction between genetican denvironmental factors. Clinical manifestations depend on the accumulated porphyrin, the site where it is produced (liver orbone marrow) and accumulates in the way that it isexcretedand the mechanism of this toxicity (neurotoxicity, photo sensitivity or both). We report a case of a female patient diagnosed with liver cirrhosis secondary to porphyria who had iron overload in laboratory tests being discarded the presence of cirrhosis secondary to hemochromatosis.
Assuntos
Humanos , Feminino , Idoso , Porfirias , Porfirias Hepáticas , Hemocromatose , Cirrose Hepática , Fibrose , Porfiria Cutânea Tardia , Porfiria Aguda Intermitente , Porfiria VariegadaRESUMO
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.
Assuntos
Masculino , Humanos , Adulto , Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/terapia , Diagnóstico Diferencial , FlebotomiaRESUMO
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.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/patologia , Síndrome de Sjogren/patologia , Biópsia , Porfiria Cutânea Tardia/complicações , Estações do Ano , Síndrome de Sjogren/complicações , Pele/patologiaRESUMO
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. ...
Assuntos
Adulto , Feminino , Humanos , Masculino , Hemocromatose/genética , Mutação/genética , Porfiria Cutânea Tardia/genética , Distribuição por Idade , Alcoolismo/complicações , Cromatografia Líquida , Estrogênios/efeitos adversos , Frequência do Gene , Hepatite C/complicações , Ferro/sangue , Fatores Desencadeantes , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Risco , Distribuição por SexoRESUMO
No abstract available.
Assuntos
Humanos , Interferon beta , Interferons , Esclerose Múltipla , Porfiria Cutânea Tardia , PorfiriasRESUMO
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.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Lúpus Eritematoso Sistêmico/complicações , Transtornos de Fotossensibilidade/complicações , Porfiria Cutânea Tardia/complicaçõesRESUMO
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.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Terapia Antirretroviral de Alta Atividade/efeitos adversos , Porfiria Cutânea Tardia/induzido quimicamente , Infecções por HIV/tratamento farmacológico , Porfiria Cutânea Tardia/diagnóstico , Fatores de RiscoRESUMO
The skin could be a main target organ for extrahepatic manifestations in hepatitis C virus- [HCV] infected patients and research data suggest that interferon treatment may be associated with immune-mediated skin lesions. However, case reports propose that the response of dermatologic extrahepatic manifestations to interferon in patients with chronic HCV is greatly different. The objective of this study is to summarize currently available data on dermatologic conditions associated with chronic HCV infection. In addition, we investigate the incidence of the development of immune mediated dermatologic disorders during interferon therapy in these patients