RESUMO
OBJECTIVES: Porphyria cutanea tarda (PCT) is common and usually associated with HCV chronic infection and HFE polymorphisms. Since DAA IFN-free regimens availability, SVR for HCV is nearly a constant and we wonder whether HCV SVR determine PCT evolution. METHODS: Retrospective observational study including patients with HCV associated PCT from the Gastroenterology and Infectious Diseases Departments at our Hospital, treated with DAA (Apr/2015-Apr/2017). Clinical variables of PCT were collected at PCT diagnosis, after PCT treatment, before DAA use and after SVR achievement. UROD activity and C282Y/H63D polymorphisms were registered. SPSS 22.0. RESULTS: 13 HCV-PCT patients included: median age 52.5 years; 4 females; 8 HCV/HIV co-infected (all on undetectable viral load). Classical PCT factors: 12 smoked, 9 alcohol abuse, 6 former IDU. 10 type I PCT and 1 type II PCT. HFE polymorphism: 2 cases with C282Y/H63D; H63D polymorphism in 8. PCT manifestations resolved with PCT treatment in 4 patients, almost completely in 7 patients, 1 patient referred stabilization and one worsened. After DAA treatment all the residual lesions resolved, what always led to specific treatment interruption. CONCLUSIONS: Our series of cases of HCV-associated PCT shows that SVR after DAA treatment leads to PCT resolution. Porphyrin levels are not needed after ending PCT specific treatment interruption when there are no residual skin lesions in HCV-associated PCT.
Assuntos
Hepatite C Crônica , Hepatite C , Porfiria Cutânea Tardia , Antivirais/uso terapêutico , Feminino , Hepatite C/complicações , Hepatite C Crônica/complicações , Hepatite C Crônica/tratamento farmacológico , Humanos , Pessoa de Meia-Idade , Mutação , Porfiria Cutânea Tardia/complicações , Porfiria Cutânea Tardia/etiologia , Resposta Viral SustentadaRESUMO
We report a case of 33-year-old female with underlying genetic susceptibility for familial porphyria cutanea tarda due to novel UROD variant (c.636 + 2 dupT) unmasked by transient exposure to supraphysiological oestrogen concentrations following a single cycle of successful controlled ovarian stimulation for oocyte retrieval. Use of oral oestrogen in the form of oral contraceptive pills and hormone replacement therapy has been well known to trigger active porphyria cutanea tarda phenotype in susceptible women. However, to date, the emergence of clinically overt porphyria cutanea tarda has not been reported in association with fertility treatment in the literature before.
Assuntos
Predisposição Genética para Doença , Recuperação de Oócitos/efeitos adversos , Indução da Ovulação/efeitos adversos , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/genética , Adulto , Feminino , Humanos , Mutação , Porfirinas/análiseAssuntos
Hepatite C Crônica/diagnóstico , Porfiria Cutânea Tardia/diagnóstico , Anticorpos Anti-Hepatite C/sangue , Hepatite C Crônica/sangue , Hepatite C Crônica/complicações , Hepatite C Crônica/urina , Humanos , Masculino , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologia , Porfiria Cutânea Tardia/urina , Pele/patologia , Uroporfirinas/urinaAssuntos
Dermatoses Faciais/diagnóstico , Dermatoses da Mão/diagnóstico , Hemocromatose/diagnóstico , Porfiria Cutânea Tardia/diagnóstico , Dermatoses Faciais/etiologia , Feminino , Dermatoses da Mão/etiologia , Hemocromatose/complicações , Hemocromatose/terapia , Humanos , Pessoa de Meia-Idade , Flebotomia , Porfiria Cutânea Tardia/etiologiaRESUMO
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
Hepatite C Crônica/complicações , Hepatite C Crônica/patologia , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologia , Esclerodermia Localizada/etiologia , Esclerodermia Localizada/patologia , Alopecia/etiologia , Feminino , Hepatite C Crônica/terapia , Humanos , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/terapia , Esclerodermia Localizada/terapia , Resultado do TratamentoRESUMO
Cutaneous deposition disorders represent an array of conditions resulting from the accumulation of endogenous and exogenous substances within the skin. Many of the deposition diseases resemble each other and can also be confused with disorders not related to deposition. Porphyria cutanea tarda (PCT) results from dysfunction particularly in the fifth enzyme of the heme synthesis pathway, leading to increased skin fragility and bullae among other abnormalities. Ochronosis develops from alkaptonuria or exogenous sources, creating deposition of ocher-colored pigment in the skin. Hemochromatosis is a systemic disorder that can be inherited or acquired, altering skin pigmentation in more than 90% of patients. PCT can be an initial manifestation of hemochromatosis. Argyria is an acquired disorder of silver deposition that can also cause pigmentation similar to ochronosis. These uncommon but not rare disorders may resemble and be confused with each other in multiple ways.
Assuntos
Argiria/diagnóstico , Hemocromatose/diagnóstico , Ocronose/diagnóstico , Porfiria Cutânea Tardia/diagnóstico , Argiria/etiologia , Argiria/patologia , Diagnóstico Diferencial , Hemocromatose/etiologia , Hemocromatose/patologia , Humanos , Ocronose/etiologia , Ocronose/patologia , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologiaRESUMO
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
BACKGROUND: Direct-acting anti-viral (DAA) therapy may have a beneficial role in extrahepatic manifestations of hepatitis C virus (HCV) infection. However, the available data are limited. AIM: To examine the effects of DAA treatment on the risk of several extrahepatic manifestations of HCV. METHODS: We conducted a retrospective cohort study of patients from the US Department of Veterans Affairs Corporate Data Warehouse who had a positive HCV RNA test and received first course of DAAs between 2012 and 2016. We calculated incidence rates by sustained virological response (SVR) status for six extrahepatic manifestations, and effect of SVR on these conditions was evaluated in adjusted Cox regression models. RESULTS: Of the 45 260 patients treated with DAA with mean follow-up of 2.01 years, 41 711 (92.2%) experienced SVR. Incidence rates ranged from 0.17/1000 PY for porphyria cutanea tarda to 21.04/1000 PY for diabetes in the SVR group and 0.51/1000 PY for porphyria cutanea tarda to 23.11/1000 PY for diabetes in the no SVR group. The risk was reduced with SVR for mixed cryoglobulinaemia (adjusted HR (aHR) = 0.23; 95% CI 0.10-0.56), glomerulonephritis (aHR = 0.61; 95% CI 0.41-0.90) and lichen planus (aHR = 0.46; 95% CI 0.30-0.70), but not for non-Hodgkin's lymphoma (aHR = 0.86; 95% CI 0.52-1.43) or diabetes (aHR = 0.98; 95% CI 0.81-1.19). Non significant risk reduction was seen for porphyria cutanea tarda (aHR = 0.33; 95% CI 0.11-1.03). CONCLUSIONS: Successful DAA treatment resulting in SVR was associated with significant reductions in the risk of mixed cryoglobulinaemia, glomerulonephritis, lichen planus and possibly porphyria cutanea tarda, but not non-Hodgkin's lymphoma or diabetes.
Assuntos
Antivirais/uso terapêutico , Crioglobulinemia/prevenção & controle , Glomerulonefrite/prevenção & controle , Hepatite C/tratamento farmacológico , Líquen Plano/prevenção & controle , Porfiria Cutânea Tardia/prevenção & controle , Resposta Viral Sustentada , Crioglobulinemia/etiologia , Feminino , Glomerulonefrite/etiologia , Hepacivirus/efeitos dos fármacos , Hepacivirus/genética , Hepatite C/complicações , Hepatite C/virologia , Humanos , Líquen Plano/etiologia , Masculino , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/etiologia , Estudos Retrospectivos , RiscoRESUMO
BACKGROUND: Porphyria cutanea tarda (PCT) is the most common porphyria worldwide. The known acquired precipitating factors that induce PCT include alcoholism, hepatitis C virus infection, human immunodeficiency virus infection, and estrogen intake. Hereditary hemochromatosis is considered an inherited risk factor. The aim of this study was to describe and analyze precipitating factors and family history, with emphasis on PCT management. METHODS: A retrospective study of 87 patients with PCT was conducted between January 2002 and December 2017. RESULTS: A male predominance of 1.8 : 1 was found. The median age at diagnosis was 49 years (range 18-71). Family history of PCT was observed in 19.5% of patients. Two or more acquired precipitating factors were present in 42.5%. Patients were treated with antimalarial monotherapy (72.4%), antimalarial combined with phlebotomy (22.9%), and only with phlebotomy (4.6%). Acquired precipitating factors and inherited factors were not associated with treatment group. There was a difference in 24 h-UP normalization rate between treatment groups; combined therapy takes longer than antimalarial monotherapy, 38 months versus 15 months, respectively (CI 95%, 6.5-63.5 vs. 12.9-17) (log-rank test, P = 0.004). CONCLUSION: Precipitating factors did not seem to be associated with treatment choice; however, all acquired and inherited precipitating factors should be investigated, and the choice between phlebotomy and/or antimalarials should be individualized. All dermatologists treating PCT patients should observe transferrin saturation and ferritin levels to search for underlying hereditary hemochromatosis.
Assuntos
Antimaláricos/uso terapêutico , Hemocromatose/complicações , Flebotomia/estatística & dados numéricos , Porfiria Cutânea Tardia/terapia , Adolescente , Adulto , Idoso , Alcoolismo/complicações , Alcoolismo/epidemiologia , Brasil/epidemiologia , Terapia Combinada/métodos , Terapia Combinada/estatística & dados numéricos , Feminino , Ferritinas/sangue , Infecções por HIV/complicações , Infecções por HIV/epidemiologia , Hemocromatose/diagnóstico , Hemocromatose/epidemiologia , Hepatite C/complicações , Hepatite C/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Porfiria Cutânea Tardia/epidemiologia , Porfiria Cutânea Tardia/etiologia , Porfirinas/sangue , Fatores Desencadeantes , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Transferrina/análise , Adulto JovemAssuntos
Antivirais/administração & dosagem , Hepatite C Crônica/tratamento farmacológico , Porfiria Cutânea Tardia/diagnóstico , Idoso , Hepacivirus/isolamento & purificação , Hepatite C Crônica/imunologia , Hepatite C Crônica/virologia , Humanos , Fígado/efeitos dos fármacos , Fígado/metabolismo , Fígado/virologia , Masculino , Unhas/patologia , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologia , Porfiria Cutânea Tardia/urina , Pele/patologia , Resultado do Tratamento , Uroporfirinas/metabolismo , Uroporfirinas/urinaAssuntos
Antivirais/uso terapêutico , Benzofuranos/uso terapêutico , Hepatite C Crônica/tratamento farmacológico , Imidazóis/uso terapêutico , Porfiria Cutânea Tardia/tratamento farmacológico , Quinoxalinas/uso terapêutico , Combinação de Medicamentos , Feminino , Dermatoses da Mão/tratamento farmacológico , Dermatoses da Mão/etiologia , Dermatoses da Mão/patologia , Hepatite C Crônica/complicações , Humanos , Falência Renal Crônica/complicações , Cirrose Hepática/complicações , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/sangue , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologia , Porfirinas/sangue , Resposta Viral Sustentada , Carga ViralRESUMO
Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars. Porphyria cutanea tarda occurs in relation to inhibition of uroporphyrinogen decarboxylase, a key enzyme in the heme biosynthesis pathway. A number of genetic and acquired factors increase susceptibility to PCT by reducing uroporphyrinogen decarboxylase activity. A handful of other vesiculobullous conditions may mimic PCT both clinically and histologically; therefore, both skin biopsy and laboratory evaluation are helpful in confirming the diagnosis. We report a case of PCT in the setting of cigarette usage and untreated hepatitis C infection.
Assuntos
Hepatite C/complicações , Porfiria Cutânea Tardia/diagnóstico , Fumar/efeitos adversos , Idoso , Diabetes Mellitus Tipo 2/complicações , Mãos/patologia , Humanos , Masculino , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologiaAssuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Suplementos Nutricionais/efeitos adversos , Ferro/efeitos adversos , Porfiria Cutânea Tardia/etiologia , Porfiria Cutânea Tardia/patologia , Idoso , Vesícula/etiologia , Exantema/etiologia , Feminino , Humanos , Flebotomia , Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/terapia , Prurido/etiologiaAssuntos
Antivirais/uso terapêutico , Benzimidazóis/uso terapêutico , Fluorenos/uso terapêutico , Infecções por HIV/tratamento farmacológico , Hepatite C Crônica/tratamento farmacológico , Porfiria Cutânea Tardia/tratamento farmacológico , Uridina Monofosfato/análogos & derivados , Coinfecção/sangue , Coinfecção/complicações , Coinfecção/tratamento farmacológico , Quimioterapia Combinada , Feminino , Infecções por HIV/sangue , Hepatite C Crônica/sangue , Hepatite C Crônica/complicações , Humanos , Pessoa de Meia-Idade , Porfiria Cutânea Tardia/sangue , Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/etiologia , Sofosbuvir , Uridina Monofosfato/uso terapêuticoRESUMO
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
Ultrasonography in a 60-year-old man with chronic hepatitis C (CHC) demonstrated multiple hyperechoic nodules. Radiological investigations did not reveal any signs of malignancy. However, magnetic resonance chemical shift imaging showed multiple focal fatty changes in the liver. Urinary levels of uroporphyrin and coproporphyrin were elevated, and we made a diagnosis of porphyria cutanea tarda. Direct-acting antivirals, ledipasvir/sofosbuvir, were initiated for CHC, which led to sustained viral response, resolution of the liver nodules, and normalization of urinary porphyrin. Hepatitis C virus infection can cause porphyria cutanea tarda with multiple hyperechoic liver nodules, which might be cured by direct-acting antivirals.