A forma mais comum de porfiria hepática crônica. É caracterizada por fotodermatite bolhosa.
Introdução
O que você precisa saber de cara
A forma mais comum de porfiria hepática crônica. É caracterizada por fotodermatite bolhosa.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 30 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 74 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Multigenic/multifactorial.
Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:18004775, PubMed:21668429). Isomer I or isomer III of uroporphyrinogen may serve as substrate, but only coproporphyrinogen III can ultimately be converted to heme (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:21668429). In vitro also decarb
Cytoplasm, cytosol
Familial porphyria cutanea tarda
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage.
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
Cell membrane
Hemochromatosis 1
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Variantes genéticas (ClinVar)
164 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 64 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Porfiria cutânea tardia
Centros de Referência SUS
21 centros habilitados pelo SUS para Porfiria cutânea tardia
Centros para Porfiria cutânea tardia
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
6 ensaios clínicos encontrados.
Publicações mais relevantes
From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.
Porphyria cutanea tarda (PCT), caused by hepatic uroporphyrinogen decarboxylase deficiency, may rarely overlap with undiagnosed celiac disease (CD), complicating diagnosis due to shared hepatic and dermatologic features. Both conditions present with skin manifestations such as photosensitivity, blistering, or dermatitis herpetiformis-like lesions, often leading to misclassification. AI-driven metabolomics provides a novel strategy to identify metabolic biomarkers, predict CD with high accuracy through machine learning, and uncover hidden comorbidities in PCT patients. Despite challenges including limited datasets, bioinformatics demands, and regulatory barriers, integrating metabolomics with AI could enhance diagnostic precision and enable personalized management. Multidisciplinary collaboration is critical to translating these technologies into clinical practice for early detection and improved outcomes in PCT-CD overlap.
Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.
Metabolic disorders can be the consequence of external factors and individual susceptibility. Sporadic porphyria cutanea tarda (sPCT) is an idiopathic disorder of liver heme synthesis exhibiting inhibition of uroporphyrinogen decarboxylase, characterised by dermal and hepatic deposition of uroporphyrins from oxidation of sensitive uroporphyrinogens (uroporphyria). sPCT is associated with alcohol, estrogenic drugs, HIV and hepatitis C, as well as a poorly understood influence of iron. Hexachlorobenzene (HCB) and reputably 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) cause a similar disorder. The hepatic aspects modelled in susceptible rodents in response to HCB and TCDD are potentiated by iron. Importantly, iron overload alone eventually causes hepatic uroporphyria in genetically susceptible mice. To determine whether this genetic susceptibility to iron toxicity is the consequence of a single genetic variant or is multigenic, a low power F2 intercross cross from sensitive SWR and resistant DBA/2 strains was used to detect chromosomal quantitative trait loci (QTL) associated with uroporphyria development enhanced by the heme precursor 5-aminolevulinic acid (5-ALA). Multiple QTL contributed to the development of uroporphyria. Differential gene expressions comparing mice of parent strains and the F2 extremes of resistance and susceptibility suggested possible contributions associated with QTL. Positions of QTL and the confidence regions were compared with those observed previously for uroporphyria induced more rapidly by TCDD in iron-loaded mice and showed overlapping but not identical loci. A difference in uroporphyric response to iron loading occurred with another sensitive strain, C57BL/10ScSn, whether maintained on one of two well-defined, but similar, same source commercial diets. Uroporphyria developed with a nutritionally enhanced diet rather than a lean maintenance diet. One common observation with uroporphyria was decreased expression of Glul for glutamine synthetase. The findings illustrate the interaction of polygenic factors, external factors and diet in models of idiopathic human disorders such as sPCT.
Stability of plasma and erythrocyte porphyrins: implications for diagnosis and monitoring of erythropoietic protoporphyria.
Diagnosing and identifying the type of porphyria in a patient requires specialist analysis of porphyrins and/or precursors in blood, urine and faeces. Correct sample storage and handling prior to analysis is essential to minimise preanalytical error.We evaluated the impact of light exposure, time and temperature on erythrocyte and plasma porphyrins in samples from patients with erythropoietic protoporphyria (EPP) and porphyria cutanea tarda (PCT) stored as whole blood for up to 96 hours, and in addition, the effect of freeze-thaw on plasma porphyrins in EPP, PCT and hereditary coproporphyria patient samples.Plasma porphyrins in the EPP patient samples decreased on average by 19% after 6 hours despite light protection and fridge storage, 36% by 24 hours stored light protected at room temperature, 67% within 1 hour when light exposed and 33% after one freeze-thaw cycle. In contrast, plasma porphyrin in PCT samples demonstrated greater stability compared to the EPP samples when stored light protected or exposed at room temperature and during freeze-thaw. Erythrocyte porphyrins in EPP samples were stable for 96 hours under all three storage conditions examined.Erythrocyte protoporphyrin analysis should be undertaken as an additional first-line investigation alongside plasma porphyrin analysis whenever protoporphyria needs to be excluded, due to the significant instability of plasma protoporphyrin.
Porphyria cutanea tarda.
Responses to 'Responses to "red fluorescence in porphyria cutanea tarda"'.
Publicações recentes
From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.
Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.
Porphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina.
Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.
📚 EuropePMC1.534 artigos no totalmostrando 189
From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.
Annals of medicine and surgery (2012)Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.
Free radical biology & medicinePorphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina.
MedicinaPorphyrias: Pathophysiology and clinical management recommendations for hepatologists.
Hepatology communicationsResponses to 'Responses to "red fluorescence in porphyria cutanea tarda"'.
Journal of the European Academy of Dermatology and Venereology : JEADVStability of plasma and erythrocyte porphyrins: implications for diagnosis and monitoring of erythropoietic protoporphyria.
Journal of clinical pathologyPersistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report.
Clinical case reportsResponses to 'Red fluorescence in porphyria cutanea tarda'.
Journal of the European Academy of Dermatology and Venereology : JEADV[Porphyria cutanea tarda and hepatitis C infection].
Ugeskrift for laeger[Porphyria cutanea tarda].
Ugeskrift for laegerRed fluorescence in porphyria cutanea tarda.
Journal of the European Academy of Dermatology and Venereology : JEADVDorsal Hand Involvement in Porphyria Cutanea Tarda.
Acta medica portuguesaPorphyria Cutanea Tarda: A Multifactorial Disease.
CureusPart I. Dermatologic Manifestations in Patients with Kidney Disease.
Journal of the American Academy of DermatologyAtypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?
Clinical geneticsPorphyria Cutanea Tarda: A Phenotypic Expression of Several Genes.
CureusPorphyria cutanea tarda and systemic lupus erythematosus: a case report.
Journal of medical case reportsUnique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.
Clinical medicine insights. Case reportsSporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report.
EJHaemSkin Manifestations Among Individuals With Hepatitis C Infection.
CureusTreatment of Porphyria Cutanea Tarda Scarring With Combination Laser Treatment and a Pilot Use of Artificial Intelligence to Quantify Laser Results.
Journal of cosmetic dermatologyThe risk of skin infections in end-stage renal disease patients with porphyria cutanea tarda: A retrospective cohort study.
The American journal of the medical sciencesEnhanced cardiovascular risks in patients with porphyria Cutanea Tarda: A retrospective cohort study.
Journal of the European Academy of Dermatology and Venereology : JEADVMilia within resolving bullous pemphigoid lesions.
Dermatology online journalPorphyria cutanea tarda: a unique iron-related disorder.
Hematology. American Society of Hematology. Education ProgramPorphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.
CureusPorphyria cutanea tarda triggered by hepatitis-E virus.
Bratislavske lekarske listyNail Bed Regeneration by Excision of Distal Scarred Matrix in a Patient with Porphyria Cutanea Tarda.
Plastic and reconstructive surgery. Global openAnogenital Erosive Lichen Sclerosus in a Male With Multiple Autoimmune Conditions.
CureusNovel UROD mutation for porphyria cutanea tarda, type 2: a case report.
AME case reportsAtypical presentation of pellagra with black urine: A clinical conundrum.
SAGE open medical case reportsClinical Characteristics and Inciting Agents for Pseudoporphyria: The Mayo Clinic Experience, 1996-2020.
Advances in skin & wound careA rare case of porphyria cutanea tarda in a patient with a homozygous hereditary hemochromatosis gene H63D mutation in the setting of hereditary hemochromatosis.
JAAD case reportsPractical recommendations for biochemical and genetic diagnosis of the porphyrias.
Liver international : official journal of the International Association for the Study of the LiverVesiculobullous skin lesions on the hands and face.
JAAD case reports[An overview of porphyrias].
Dermatologie (Heidelberg, Germany)The clinical management of porphyria cutanea tarda: An update.
Liver international : official journal of the International Association for the Study of the LiverUnderstanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Seminars in liver diseaseDermatologic manifestations of hereditary hemochromatosis: A systematic review.
Journal of the European Academy of Dermatology and Venereology : JEADVDrug-Induced Pseudoporphyria: A Case Report.
CureusPorphyria cutanea tarda in Scotland: underlying associations and treatment approaches.
International journal of dermatologyExtrahepatic Manifestations of Chronic Hepatitis C Virus (HCV) Infection.
CureusIgM-mediated epidermolysis bullosa acquisita.
JAAD case reportsDermatological Manifestations in Patients With Chronic Kidney Disease: A Review.
CureusPorphyria cutanea tarda in a human immunodeficiency virus-positive patient.
Medicina clinicaComments and illustrations of the WFUMB CEUS liver guidelines: Peliosis hepatis and porphyria.
Medical ultrasonographyAcute Porphyria: An Unusual Case Of Quadriparesis, Hypertension, Recurrent Severe Cyclic Abdominal Pain, And Seizures.
JPMA. The Journal of the Pakistan Medical AssociationPorphyria cutanea tarda: an under-recognised manifestation of haemochromatosis.
BMJ case reportsRe: Porphyria Cutanea Tarda in a Patient with Myelofibrosis.
Sultan Qaboos University medical journalUpdate on the Porphyrias.
Annual review of medicineA Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda.
CureusControl of porphyria cutanea tarda with anti-IL-17 secukinumab in a person with psoriasis living with HIV.
Oxford medical case reportsPorphyria Cutanea Tarda in a Patient with Myelofibrosis.
Sultan Qaboos University medical journalCase Report: Treatment of porphyria cutanea tarda with low dose hydroxychloroquine.
F1000Research[Case of multiple systemic (extrahepatic) manifestations of chronic HCV infection (analysis of the literature and own observations). Case report].
Terapevticheskii arkhivA Case Report of Porphyria Cutanea Tarda with Hepatitis-C Virus Co-infection.
Mymensingh medical journal : MMJA Reversible Cause of Cutaneous Rash in a Patient With Alcohol Consumption.
CureusDusky pink annular plaques with a vesicular border.
JAAD case reportsLedipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C.
Digestive diseases and sciencesPlasma porphyrins among end stage renal disease patients and cutaneous symptoms- is there still an association?
Molecular genetics and metabolism reportsBullosis diabeticorum as a differential diagnosis for limb ulcers: case report.
Jornal vascular brasileiroRenal Transplantation Could Reverse Dialysis-Associated Porphyria.
CureusIron Metabolism in the Disorders of Heme Biosynthesis.
MetabolitesDevelopment and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Journal of inherited metabolic disease[Asthenia, weight loss in a 55 year-old woman].
La Revue de medecine interneWhen Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Journal of general internal medicineCase 304: Porphyria Cutanea Tarda.
RadiologySkin Changes in Cirrhosis.
Journal of clinical and experimental hepatologyRisk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.
CancersEpidermolysis bullosa acquisita.
Anais brasileiros de dermatologiaPsychological Aspect and Quality of Life in Porphyrias: A Review.
Diagnostics (Basel, Switzerland)Porphyria cutanea tarda treated with short-term high-dose hydroxychloroquine: a case report.
AME case reportsBetween a rock and a hard place: management of systemic lupus erythematosus and porphyria cutanea tarda.
The Journal of dermatological treatmentForearm porphyrin levels evaluated by digital imaging system are increased in patients with systemic sclerosis compared with patients in pre-clinical stage.
Intractable & rare diseases researchPorphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study.
Orphanet journal of rare diseasesNot Only Skin Deep-A Rare Case of Porphyria Cutanea Tarda With Corneal Opacity Presenting Along With Scleroderma With Interstitial Lung Disease.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesFacial hyperpigmentation and crusted papules on the hands.
JAAD case reportsMultiple focal fatty changes in the liver in patients with porphyria cutanea tarda: A case series and review of the literature.
Journal of clinical ultrasound : JCUThe historical differential diagnosis of the disease that afflicted Aleijadinho, the famous 18th century Brazilian sculptor.
Arquivos de neuro-psiquiatriaHydroxychloroquine: An Essential Drug in Dermatology and Its Controversial Use in COVID-19.
Actas dermo-sifiliograficasThe effects of alcohol and illicit drug use on the skin.
Clinics in dermatologySight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda.
BMJ case reportsEvolution of HCV associated porphyria cutanea tarda after HCV sustained virologic response by direct acting antivirals.
Gastroenterologia y hepatologiaAlopecia Porphyrinica in a Patient with Chronic Hepatitis C.
Acta medica portuguesaThe second Japanese case of porphyria cutanea tarda with a novel genetic mutation in UROD.
The Journal of dermatologyUniversity of British Columbia Rural and Remote Dermatology Telemedicine Service: A Case of Porphyria Cutanea Tarda.
Journal of cutaneous medicine and surgeryIatrogenic Iron Overload Causing Porphyria Cutanea Tarda in a Patient With a Rare Nonsense Heterozygous UROD Gene Mutation.
Cureus[Hydroxychloroquine: An Essential Drug in Dermatology and Its Controversial Use in COVID-19].
Actas dermo-sifiliograficasMetastases-Like Liver Lesions in Two Different Types of Porphyria - Porphyria Cutanea Tarda (PCT) and Acute Hepatic Porphyria (AHP) - and the Role of CEUS.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.
Photodermatology, photoimmunology & photomedicinePorphyria Cutanea Tarda Associated with Hepatitis C.
The New England journal of medicineScleral Compromise in Hereditary Porphyria Cutanea Tarda.
Journal of current ophthalmologyHepatitis-Induced Porphyria: Are Direct-Acting Antiviral Agents the Way of the Future?
ACG case reports journalPorphyria: awareness is the key to diagnosis!
Acta clinica BelgicaPorphyria cutanea tarda exacerbation as a paraneoplastic syndrome in vaginal cancer resolved with chemoradiation.
Gynecologic oncology reportsPorphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female.
Annals of clinical biochemistryAutologous Stem Cell Transplant for Treatment of Multiple Myeloma in a Patient with Concomitant Porphyria Cutanea Tarda.
Clinical lymphoma, myeloma & leukemiaPorphyria Cutanea Tarda Masquerading as Systemic Sclerosis: Two Cases Demonstrating an Important Clinical Observation.
The Journal of rheumatologyRole of ABCB1 and glutathione S-transferase gene variants in the association of porphyria cutanea tarda and human immunodeficiency virus infection.
Biomedical reportsPorphyria cutanea tarda presenting as a lichenoid eruption.
Photodermatology, photoimmunology & photomedicineAcute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.
Case reports in geneticsKidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.
Molecular genetics and metabolismEarly presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda.
Molecular genetics and metabolism reportsHydroxychloroquine Alternatives for Chronic Disease: Response to a Growing Shortage Amid the Global COVID-19 Pandemic.
Journal of pharmacy practicePorphyria cutanea tarda associated with nitrofurantoin: A unique drug reaction.
Dermatologic therapyDiagnostic and therapeutic strategies for porphyrias.
The Netherlands journal of medicineMultiple milia formation in blistering diseases.
International journal of women's dermatologyPorphyria cutanea tarda unmasked by supratherapeutic estrogen during gender-affirming hormone therapy.
JAAD case reportsPorphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant.
Canadian liver journalIndurated Skin and Iron Overload-the Missing Link.
Annals of the Academy of Medicine, SingaporePorphyria Cutanea Tarda Due to Primary Hemochromatosis.
The American journal of medicineSporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.
ACG case reports journalResolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct-acting anti-virals.
Alimentary pharmacology & therapeuticsA Case-Based Review of Iron Overload With an Emphasis on Porphyria Cutanea Tarda, Hepatitis C, C282Y Heterozygosity, and Coronary Artery Disease.
Federal practitioner : for the health care professionals of the VA, DoD, and PHSHealth-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study.
Health and quality of life outcomesSecondary hemosiderosis presented by porphyria cutanea tarda in a kidney dialysis patient: A case report.
SAGE open medical case reportsIntrahepatic Cholangiocarcinoma Associated with High Procalcitonin, Hypercalcemia, Polycythemia and Leukocytosis.
CureusA case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.
Dermatology online journalPseudoporphyria induced by ultraviolet radiation.
The Australasian journal of dermatologyChronic blistering rash on hands.
The Journal of family practiceSuccessful evolution of morphea after hepatitis C virus eradication with direct-acting antiviral agent treatment.
Revista espanola de enfermedades digestivasAn unusual bullous eruption: olanzapine induced pseudoporphyria.
BMJ case reportsCase for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C.
Anais brasileiros de dermatologiaEfficacy and Safety of Glecaprevir/pibrentasvir in a Patient With HCV-Induced Porphyria Cutanea Tarda Receiving Vedolizumab for Crohn´s Disease.
Journal of Crohn's & colitisGrover's Disease in a Kidney Transplant Recipient.
Acta dermatovenerologica Croatica : ADCUnsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria.
SkinmedIncreased mortality in patients with porphyria cutanea tarda-A nationwide cohort study.
Journal of the American Academy of DermatologyDo We Utilize Our Knowledge of the Skin Protective Effects of Carotenoids Enough?
Antioxidants (Basel, Switzerland)Heme biosynthesis and the porphyrias.
Molecular genetics and metabolismA first report of porphyria cutanea tarda successfully treated with glycyrrhizin.
Dermatologic therapyEpidemiology of cutaneous porphyria in Israel: a nationwide cohort study.
Journal of the European Academy of Dermatology and Venereology : JEADVPorphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis.
Journal of investigative medicine high impact case reportsLetters from Botswana: Photosensitive Eruption in an HIV-Positive Patient.
SkinmedPorphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions.
Journal of Nepal Health Research CouncilPorphyria Cutanea Tarda-like Lesions in a Child With a Hepatic Disease.
Journal of pediatric gastroenterology and nutritionAssociation between hepatitis C virus and porphyria cutanea tarda.
Molecular genetics and metabolismClinical Guide and Update on Porphyrias.
GastroenterologyBlistering Disease During the Treatment of Chronic Hepatitis C With Ledipasvir/Sofosbuvir.
Federal practitioner : for the health care professionals of the VA, DoD, and PHSPorphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study.
Orphanet journal of rare diseasesThe effects of sustained virological response to direct-acting anti-viral therapy on the risk of extrahepatic manifestations of hepatitis C infection.
Alimentary pharmacology & therapeuticsA 56-year-old male with porphyria cutanea tarda.
The Nurse practitionerExperience in management of porphyria cutanea tarda in a tertiary referral Brazilian hospital from 2002 to 2017.
International journal of dermatologyFeasibility of cellular bioenergetics as a biomarker in porphyria patients.
Molecular genetics and metabolism reportsMurine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Molecular genetics and metabolism[The cutaneous porphyrias].
Annales de dermatologie et de venereologiePorphyria cutanea tarda: Recent update.
Molecular genetics and metabolismPorphyria cutanea tarda: a case report.
Journal of medical case reports[Recognize rare diseases on the skin].
Der InternistRecent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Molecular genetics and metabolismThe first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation.
Journal of dermatological science[Porphyria cutanea tarda. Case report].
Revista medica de ChileUse HFR-supra for porphyria cutanea tarda treatment in hemodialysis patient.
NefrologiaImprovement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case report.
The Journal of dermatologyPorphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Molecular genetics and metabolismBlisters on the sun-exposed area: as a clue for underlying hepatitis C virus infection.
Postgraduate medical journal[Porphyrias-what is verified?].
Der InternistPorphyrias and photosensitivity: pathophysiology for the clinician.
Postgraduate medicineNew-Onset Blistering Eruption in a Young Child.
The Journal of pediatricsNon-familial porphyria cutanea tarda: a rare disease.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografiaDirect Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.
Acta dermato-venereologicaPorphyria Cutanea Tarda Improvement With Elbasvir/Grazoprevir in End-Stage Renal Disease.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationA new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β-thalassemia major.
Pediatric blood & cancerRole of Vitamin C in Skin Diseases.
Frontiers in physiologyFurosemide-induced pseudoporphyria in a patient with chronic kidney disease: case report.
Jornal brasileiro de nefrologiaBlistering of the hands following a manicure at a nail salon.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGPorphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo.
Case reports in dermatologyHepatitis C virus core protein triggers abnormal porphyrin metabolism in human hepatocellular carcinoma cells.
PloS one[Sclerodermatous changes revealing porphyria cutanea tarda].
Annales de dermatologie et de venereologiePseudo porphyria or porphyria cutanea tarda?
Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del PeruPorphyria cutanea tarda presenting as milia and blisters.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneSLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.
Annals of human geneticsHyperpigmented Patches on the Dorsal Hands.
American family physicianRelapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis.
The British journal of dermatologyBlisters, Sores and Scars on the Dorsal Hands in a 17-year-old Girl: A Quiz.
Acta dermato-venereologicaPorphyria and kidney diseases.
Clinical kidney journalGenetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).
Anais brasileiros de dermatologiaThe devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda.
LupusPhotosensitive disorders in HIV.
Southern African journal of HIV medicinePorphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides medical journalDiagnosing diabetes mellitus in patients with porphyria cutanea tarda.
International journal of dermatology[Porphyria cutanea tarda as extrahepatic manifestation of chronic hepatitis C: a case report].
Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del PeruUrinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.
Metabolomics : Official journal of the Metabolomic SocietyTotal Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of Another Risk Factor.
Ocular immunology and inflammationBullosis Diabeticorum: A Rare Presentation with Immunoglobulin G (IgG) Deposition Related Vasculopathy. Case Report and Focused Review.
The American journal of case reportsAn overview of the cutaneous porphyrias.
F1000ResearchResolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy.
The Journal of antimicrobial chemotherapyElderly Man With Bullous Eruption on the Feet.
Annals of emergency medicineBlisters, ulcers, crusts, and atrophic scars on the back of the hands and the extensor aspects of the forearms.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGBullous lesions in a haemodialysis patient.
Nephrology (Carlton, Vic.)Associações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.
- Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.
- Stability of plasma and erythrocyte porphyrins: implications for diagnosis and monitoring of erythropoietic protoporphyria.
- Porphyria cutanea tarda.
- Responses to 'Responses to "red fluorescence in porphyria cutanea tarda"'.Journal of the European Academy of Dermatology and Venereology : JEADV· 2026· PMID 41174956mais citado
- Porphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina.
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:101330(Orphanet)
- MONDO:0015104(MONDO)
- GARD:7433(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1479497(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
