Raras
Buscar doenças, sintomas, genes...
Porfiria cutânea tardia
ORPHA:101330CID-10 · E80.1CID-11 · 5C58.10OMIM 176100DOENÇA RARA

A forma mais comum de porfiria hepática crônica. É caracterizada por fotodermatite bolhosa.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A forma mais comum de porfiria hepática crônica. É caracterizada por fotodermatite bolhosa.

Publicações científicas
2.151 artigos
Último publicado: 2026 Feb

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
4.0
Europe
Início
Adult
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8CID-10: E80.1
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
15 sintomas
🫃
Digestivo
10 sintomas
👁️
Olhos
5 sintomas
🫘
Rins
5 sintomas
🦴
Ossos e articulações
3 sintomas
🩸
Sangue
3 sintomas

+ 30 sintomas em outras categorias

Características mais comuns

100%prev.
Porfirinúria
Muito frequente (99-80%)
100%prev.
Fotossensibilidade cutânea
Muito frequente (99-80%)
90%prev.
Concentração anormal de porfirina circulante
Muito frequente (99-80%)
90%prev.
Pele frágil
Muito frequente (99-80%)
90%prev.
Exacerbado pelo uso de tabaco
90%prev.
Bolhas anormais na pele
Muito frequente (99-80%)
74sintomas
Muito frequente (6)
Frequente (10)
Ocasional (23)
Sem dados (35)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 74 características clínicas mais associadas, ordenadas por frequência.

PorfirinúriaPorphyrinuria
Muito frequente (99-80%)100%
Fotossensibilidade cutâneaCutaneous photosensitivity
Muito frequente (99-80%)100%
Concentração anormal de porfirina circulanteAbnormal circulating porphyrin concentration
Muito frequente (99-80%)90%
Pele frágilFragile skin
Muito frequente (99-80%)90%
Exacerbado pelo uso de tabacoExacerbated by tobacco use
Muito frequente90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.151PubMed
Últimos 10 anos200publicações
Pico201937 papers
Linha do tempo
2026Hoje · 2026🧪 1999Primeiro ensaio clínico📈 2019Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

URODUroporphyrinogen decarboxylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Heme biosynthesis
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
100.8 TPM
Fibroblastos
74.4 TPM
Útero
72.0 TPM
Tireoide
69.1 TPM
Ovário
65.2 TPM
OUTRAS DOENÇAS (2)
familial porphyria cutanea tardahepatoerythropoietic porphyria
HGNC:12591UniProt:P06132
HFEHereditary hemochromatosis proteinCandidate gene tested inTolerante
FUNÇÃO

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Transferrin endocytosis and recycling
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
15.7 TPM
Glândula adrenal
8.8 TPM
Baço
7.8 TPM
Aorta
6.6 TPM
Cervix Endocervix
6.5 TPM
OUTRAS DOENÇAS (6)
hemochromatosis type 1sporadic porphyria cutanea tardafamilial porphyria cutanea tardaobsolete symptomatic form of hemochromatosis type 1
HGNC:4886UniProt:Q30201

Variantes genéticas (ClinVar)

164 variantes patogênicas registradas no ClinVar.

🧬 UROD: NM_000374.5(UROD):c.1001T>C (p.Ile334Thr) ()
🧬 UROD: NM_000374.5(UROD):c.767T>G (p.Val256Gly) ()
🧬 UROD: NM_000374.5(UROD):c.636+1G>T ()
🧬 UROD: NM_000374.5(UROD):c.133+2_133+4del ()
🧬 UROD: NM_000374.5(UROD):c.775-2del ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 64 variantes classificadas pelo ClinVar.

42
22
Patogênica (65.6%)
VUS (34.4%)
VARIANTES MAIS SIGNIFICATIVAS
UROD: NM_000374.5(UROD):c.133+2_133+4del [Likely pathogenic]
UROD: NM_000374.5(UROD):c.775-2del [Likely pathogenic]
UROD: NM_000374.5(UROD):c.943-14_944del [Likely pathogenic]
UROD: NM_000374.5(UROD):c.186dup (p.Glu63Ter) [Pathogenic]
UROD: NM_000374.5(UROD):c.758dup (p.Ala254fs) [Likely pathogenic]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 23
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 6 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

Pesquisa e ensaios clínicos

6 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
247 papers (10 anos)
#1

From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.

Annals of medicine and surgery (2012)2026 Feb

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.

#2

Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.

Free radical biology &amp; medicine2026 Mar 16

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.

#3

Stability of plasma and erythrocyte porphyrins: implications for diagnosis and monitoring of erythropoietic protoporphyria.

Journal of clinical pathology2026 Feb 19

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.

#4

Porphyria cutanea tarda.

The British journal of dermatology2026 Mar 19
#5

Responses to 'Responses to "red fluorescence in porphyria cutanea tarda"'.

Journal of the European Academy of Dermatology and Venereology : JEADV2026 Feb

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.534 artigos no totalmostrando 189

2026

From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.

Annals of medicine and surgery (2012)
2026

Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.

Free radical biology &amp; medicine
2025

Porphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina.

Medicina
2025

Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.

Hepatology communications
2026

Responses to 'Responses to "red fluorescence in porphyria cutanea tarda"'.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

Stability of plasma and erythrocyte porphyrins: implications for diagnosis and monitoring of erythropoietic protoporphyria.

Journal of clinical pathology
2025

Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report.

Clinical case reports
2026

Responses to 'Red fluorescence in porphyria cutanea tarda'.

Journal of the European Academy of Dermatology and Venereology : JEADV
2025

[Porphyria cutanea tarda and hepatitis C infection].

Ugeskrift for laeger
2025

[Porphyria cutanea tarda].

Ugeskrift for laeger
2026

Red fluorescence in porphyria cutanea tarda.

Journal of the European Academy of Dermatology and Venereology : JEADV
2025

Dorsal Hand Involvement in Porphyria Cutanea Tarda.

Acta medica portuguesa
2025

Porphyria Cutanea Tarda: A Multifactorial Disease.

Cureus
2025

Part I. Dermatologic Manifestations in Patients with Kidney Disease.

Journal of the American Academy of Dermatology
2025

Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?

Clinical genetics
2025

Porphyria Cutanea Tarda: A Phenotypic Expression of Several Genes.

Cureus
2025

Porphyria cutanea tarda and systemic lupus erythematosus: a case report.

Journal of medical case reports
2025

Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.

Clinical medicine insights. Case reports
2025

Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report.

EJHaem
2025

Skin Manifestations Among Individuals With Hepatitis C Infection.

Cureus
2025

Treatment of Porphyria Cutanea Tarda Scarring With Combination Laser Treatment and a Pilot Use of Artificial Intelligence to Quantify Laser Results.

Journal of cosmetic dermatology
2025

The risk of skin infections in end-stage renal disease patients with porphyria cutanea tarda: A retrospective cohort study.

The American journal of the medical sciences
2025

Enhanced cardiovascular risks in patients with porphyria Cutanea Tarda: A retrospective cohort study.

Journal of the European Academy of Dermatology and Venereology : JEADV
2024

Milia within resolving bullous pemphigoid lesions.

Dermatology online journal
2024

Porphyria cutanea tarda: a unique iron-related disorder.

Hematology. American Society of Hematology. Education Program
2024

Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.

Cureus
2024

Porphyria cutanea tarda triggered by hepatitis-E virus.

Bratislavske lekarske listy
2024

Nail Bed Regeneration by Excision of Distal Scarred Matrix in a Patient with Porphyria Cutanea Tarda.

Plastic and reconstructive surgery. Global open
2024

Anogenital Erosive Lichen Sclerosus in a Male With Multiple Autoimmune Conditions.

Cureus
2024

Novel UROD mutation for porphyria cutanea tarda, type 2: a case report.

AME case reports
2024

Atypical presentation of pellagra with black urine: A clinical conundrum.

SAGE open medical case reports
2024

Clinical Characteristics and Inciting Agents for Pseudoporphyria: The Mayo Clinic Experience, 1996-2020.

Advances in skin &amp; wound care
2024

A 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 reports
2025

Practical recommendations for biochemical and genetic diagnosis of the porphyrias.

Liver international : official journal of the International Association for the Study of the Liver
2024

Vesiculobullous skin lesions on the hands and face.

JAAD case reports
2024

[An overview of porphyrias].

Dermatologie (Heidelberg, Germany)
2024

The clinical management of porphyria cutanea tarda: An update.

Liver international : official journal of the International Association for the Study of the Liver
2024

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.

Seminars in liver disease
2025

Dermatologic manifestations of hereditary hemochromatosis: A systematic review.

Journal of the European Academy of Dermatology and Venereology : JEADV
2024

Drug-Induced Pseudoporphyria: A Case Report.

Cureus
2024

Porphyria cutanea tarda in Scotland: underlying associations and treatment approaches.

International journal of dermatology
2024

Extrahepatic Manifestations of Chronic Hepatitis C Virus (HCV) Infection.

Cureus
2024

IgM-mediated epidermolysis bullosa acquisita.

JAAD case reports
2024

Dermatological Manifestations in Patients With Chronic Kidney Disease: A Review.

Cureus
2024

Porphyria cutanea tarda in a human immunodeficiency virus-positive patient.

Medicina clinica
2024

Comments and illustrations of the WFUMB CEUS liver guidelines: Peliosis hepatis and porphyria.

Medical ultrasonography
2023

Acute Porphyria: An Unusual Case Of Quadriparesis, Hypertension, Recurrent Severe Cyclic Abdominal Pain, And Seizures.

JPMA. The Journal of the Pakistan Medical Association
2023

Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis.

BMJ case reports
2023

Re: Porphyria Cutanea Tarda in a Patient with Myelofibrosis.

Sultan Qaboos University medical journal
2024

Update on the Porphyrias.

Annual review of medicine
2023

A Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda.

Cureus
2023

Control of porphyria cutanea tarda with anti-IL-17 secukinumab in a person with psoriasis living with HIV.

Oxford medical case reports
2023

Porphyria Cutanea Tarda in a Patient with Myelofibrosis.

Sultan Qaboos University medical journal
2022

Case Report: Treatment of porphyria cutanea tarda with low dose hydroxychloroquine.

F1000Research
2022

[Case of multiple systemic (extrahepatic) manifestations of chronic HCV infection (analysis of the literature and own observations). Case report].

Terapevticheskii arkhiv
2023

A Case Report of Porphyria Cutanea Tarda with Hepatitis-C Virus Co-infection.

Mymensingh medical journal : MMJ
2023

A Reversible Cause of Cutaneous Rash in a Patient With Alcohol Consumption.

Cureus
2023

Dusky pink annular plaques with a vesicular border.

JAAD case reports
2023

Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C.

Digestive diseases and sciences
2022

Plasma porphyrins among end stage renal disease patients and cutaneous symptoms- is there still an association?

Molecular genetics and metabolism reports
2022

Bullosis diabeticorum as a differential diagnosis for limb ulcers: case report.

Jornal vascular brasileiro
2022

Renal Transplantation Could Reverse Dialysis-Associated Porphyria.

Cureus
2022

Iron Metabolism in the Disorders of Heme Biosynthesis.

Metabolites
2022

Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.

Journal of inherited metabolic disease
2022

[Asthenia, weight loss in a 55 year-old woman].

La Revue de medecine interne
2022

When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.

Journal of general internal medicine
2022

Case 304: Porphyria Cutanea Tarda.

Radiology
2022

Skin Changes in Cirrhosis.

Journal of clinical and experimental hepatology
2022

Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.

Cancers
2022

Epidermolysis bullosa acquisita.

Anais brasileiros de dermatologia
2022

Psychological Aspect and Quality of Life in Porphyrias: A Review.

Diagnostics (Basel, Switzerland)
2022

Porphyria cutanea tarda treated with short-term high-dose hydroxychloroquine: a case report.

AME case reports
2022

Between a rock and a hard place: management of systemic lupus erythematosus and porphyria cutanea tarda.

The Journal of dermatological treatment
2022

Forearm porphyrin levels evaluated by digital imaging system are increased in patients with systemic sclerosis compared with patients in pre-clinical stage.

Intractable &amp; rare diseases research
2022

Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study.

Orphanet journal of rare diseases
2021

Not 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 &amp; musculoskeletal diseases
2022

Facial hyperpigmentation and crusted papules on the hands.

JAAD case reports
2022

Multiple focal fatty changes in the liver in patients with porphyria cutanea tarda: A case series and review of the literature.

Journal of clinical ultrasound : JCU
2021

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

Arquivos de neuro-psiquiatria
2021

Hydroxychloroquine: An Essential Drug in Dermatology and Its Controversial Use in COVID-19.

Actas dermo-sifiliograficas
2021

The effects of alcohol and illicit drug use on the skin.

Clinics in dermatology
2021

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

BMJ case reports
2022

Evolution of HCV associated porphyria cutanea tarda after HCV sustained virologic response by direct acting antivirals.

Gastroenterologia y hepatologia
2022

Alopecia Porphyrinica in a Patient with Chronic Hepatitis C.

Acta medica portuguesa
2021

The second Japanese case of porphyria cutanea tarda with a novel genetic mutation in UROD.

The Journal of dermatology
2022

University of British Columbia Rural and Remote Dermatology Telemedicine Service: A Case of Porphyria Cutanea Tarda.

Journal of cutaneous medicine and surgery
2021

Iatrogenic Iron Overload Causing Porphyria Cutanea Tarda in a Patient With a Rare Nonsense Heterozygous UROD Gene Mutation.

Cureus
2022

[Hydroxychloroquine: An Essential Drug in Dermatology and Its Controversial Use in COVID-19].

Actas dermo-sifiliograficas
2023

Metastases-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)
2022

Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.

Photodermatology, photoimmunology &amp; photomedicine
2021

Porphyria Cutanea Tarda Associated with Hepatitis C.

The New England journal of medicine
2021

Scleral Compromise in Hereditary Porphyria Cutanea Tarda.

Journal of current ophthalmology
2021

Hepatitis-Induced Porphyria: Are Direct-Acting Antiviral Agents the Way of the Future?

ACG case reports journal
2022

Porphyria: awareness is the key to diagnosis!

Acta clinica Belgica
2021

Porphyria cutanea tarda exacerbation as a paraneoplastic syndrome in vaginal cancer resolved with chemoradiation.

Gynecologic oncology reports
2021

Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female.

Annals of clinical biochemistry
2021

Autologous Stem Cell Transplant for Treatment of Multiple Myeloma in a Patient with Concomitant Porphyria Cutanea Tarda.

Clinical lymphoma, myeloma &amp; leukemia
2021

Porphyria Cutanea Tarda Masquerading as Systemic Sclerosis: Two Cases Demonstrating an Important Clinical Observation.

The Journal of rheumatology
2021

Role of ABCB1 and glutathione S-transferase gene variants in the association of porphyria cutanea tarda and human immunodeficiency virus infection.

Biomedical reports
2021

Porphyria cutanea tarda presenting as a lichenoid eruption.

Photodermatology, photoimmunology &amp; photomedicine
2020

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.

Case reports in genetics
2020

Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria.

Molecular genetics and metabolism
2020

Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda.

Molecular genetics and metabolism reports
2022

Hydroxychloroquine Alternatives for Chronic Disease: Response to a Growing Shortage Amid the Global COVID-19 Pandemic.

Journal of pharmacy practice
2020

Porphyria cutanea tarda associated with nitrofurantoin: A unique drug reaction.

Dermatologic therapy
2020

Diagnostic and therapeutic strategies for porphyrias.

The Netherlands journal of medicine
2020

Multiple milia formation in blistering diseases.

International journal of women's dermatology
2020

Porphyria cutanea tarda unmasked by supratherapeutic estrogen during gender-affirming hormone therapy.

JAAD case reports
2020

Porphyria cutanea tarda associated with elevated serum ferritin, iron overload, and a bone morphogenetic protein 6 genetic variant.

Canadian liver journal
2020

Indurated Skin and Iron Overload-the Missing Link.

Annals of the Academy of Medicine, Singapore
2020

Porphyria Cutanea Tarda Due to Primary Hemochromatosis.

The American journal of medicine
2019

Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

ACG case reports journal
2020

Resolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct-acting anti-virals.

Alimentary pharmacology &amp; therapeutics
2020

A 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 PHS
2020

Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study.

Health and quality of life outcomes
2020

Secondary hemosiderosis presented by porphyria cutanea tarda in a kidney dialysis patient: A case report.

SAGE open medical case reports
2020

Intrahepatic Cholangiocarcinoma Associated with High Procalcitonin, Hypercalcemia, Polycythemia and Leukocytosis.

Cureus
2019

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.

Dermatology online journal
2020

Pseudoporphyria induced by ultraviolet radiation.

The Australasian journal of dermatology
2019

Chronic blistering rash on hands.

The Journal of family practice
2019

Successful evolution of morphea after hepatitis C virus eradication with direct-acting antiviral agent treatment.

Revista espanola de enfermedades digestivas
2019

An unusual bullous eruption: olanzapine induced pseudoporphyria.

BMJ case reports
2019

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

Anais brasileiros de dermatologia
2020

Efficacy and Safety of Glecaprevir/pibrentasvir in a Patient With HCV-Induced Porphyria Cutanea Tarda Receiving Vedolizumab for Crohn´s Disease.

Journal of Crohn's &amp; colitis
2019

Grover's Disease in a Kidney Transplant Recipient.

Acta dermatovenerologica Croatica : ADC
2019

Unsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria.

Skinmed
2020

Increased mortality in patients with porphyria cutanea tarda-A nationwide cohort study.

Journal of the American Academy of Dermatology
2019

Do We Utilize Our Knowledge of the Skin Protective Effects of Carotenoids Enough?

Antioxidants (Basel, Switzerland)
2019

Heme biosynthesis and the porphyrias.

Molecular genetics and metabolism
2019

A first report of porphyria cutanea tarda successfully treated with glycyrrhizin.

Dermatologic therapy
2020

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.

Journal of the European Academy of Dermatology and Venereology : JEADV
2019

Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis.

Journal of investigative medicine high impact case reports
2019

Letters from Botswana: Photosensitive Eruption in an HIV-Positive Patient.

Skinmed
2019

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions.

Journal of Nepal Health Research Council
2020

Porphyria Cutanea Tarda-like Lesions in a Child With a Hepatic Disease.

Journal of pediatric gastroenterology and nutrition
2019

Association between hepatitis C virus and porphyria cutanea tarda.

Molecular genetics and metabolism
2019

Clinical Guide and Update on Porphyrias.

Gastroenterology
2019

Blistering Disease During the Treatment of Chronic Hepatitis C With Ledipasvir/Sofosbuvir.

Federal practitioner : for the health care professionals of the VA, DoD, and PHS
2019

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study.

Orphanet journal of rare diseases
2019

The effects of sustained virological response to direct-acting anti-viral therapy on the risk of extrahepatic manifestations of hepatitis C infection.

Alimentary pharmacology &amp; therapeutics
2019

A 56-year-old male with porphyria cutanea tarda.

The Nurse practitioner
2019

Experience in management of porphyria cutanea tarda in a tertiary referral Brazilian hospital from 2002 to 2017.

International journal of dermatology
2019

Feasibility of cellular bioenergetics as a biomarker in porphyria patients.

Molecular genetics and metabolism reports
2019

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Molecular genetics and metabolism
2019

[The cutaneous porphyrias].

Annales de dermatologie et de venereologie
2019

Porphyria cutanea tarda: Recent update.

Molecular genetics and metabolism
2019

Porphyria cutanea tarda: a case report.

Journal of medical case reports
2019

[Recognize rare diseases on the skin].

Der Internist
2019

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Molecular genetics and metabolism
2019

The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation.

Journal of dermatological science
2018

[Porphyria cutanea tarda. Case report].

Revista medica de Chile
2019

Use HFR-supra for porphyria cutanea tarda treatment in hemodialysis patient.

Nefrologia
2019

Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case report.

The Journal of dermatology
2019

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Molecular genetics and metabolism
2019

Blisters on the sun-exposed area: as a clue for underlying hepatitis C virus infection.

Postgraduate medical journal
2018

[Porphyrias-what is verified?].

Der Internist
2018

Porphyrias and photosensitivity: pathophysiology for the clinician.

Postgraduate medicine
2019

New-Onset Blistering Eruption in a Young Child.

The Journal of pediatrics
2020

Non-familial porphyria cutanea tarda: a rare disease.

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
2019

Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.

Acta dermato-venereologica
2019

Porphyria Cutanea Tarda Improvement With Elbasvir/Grazoprevir in End-Stage Renal Disease.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2018

A new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β-thalassemia major.

Pediatric blood &amp; cancer
2018

Role of Vitamin C in Skin Diseases.

Frontiers in physiology
2018

Furosemide-induced pseudoporphyria in a patient with chronic kidney disease: case report.

Jornal brasileiro de nefrologia
2018

Blistering of the hands following a manicure at a nail salon.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2018

Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo.

Case reports in dermatology
2018

Hepatitis C virus core protein triggers abnormal porphyrin metabolism in human hepatocellular carcinoma cells.

PloS one
2018

[Sclerodermatous changes revealing porphyria cutanea tarda].

Annales de dermatologie et de venereologie
2018

Pseudo porphyria or porphyria cutanea tarda?

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru
2018

Porphyria cutanea tarda presenting as milia and blisters.

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
2018

SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.

Annals of human genetics
2018

Hyperpigmented Patches on the Dorsal Hands.

American family physician
2018

Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis.

The British journal of dermatology
2018

Blisters, Sores and Scars on the Dorsal Hands in a 17-year-old Girl: A Quiz.

Acta dermato-venereologica
2018

Porphyria and kidney diseases.

Clinical kidney journal
2018

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

Anais brasileiros de dermatologia
2018

The devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda.

Lupus
2017

Photosensitive disorders in HIV.

Southern African journal of HIV medicine
2018

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides medical journal
2018

Diagnosing diabetes mellitus in patients with porphyria cutanea tarda.

International journal of dermatology
2017

[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 Peru
2018

Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.

Metabolomics : Official journal of the Metabolomic Society
2019

Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of Another Risk Factor.

Ocular immunology and inflammation
2018

Bullosis Diabeticorum: A Rare Presentation with Immunoglobulin G (IgG) Deposition Related Vasculopathy. Case Report and Focused Review.

The American journal of case reports
2017

An overview of the cutaneous porphyrias.

F1000Research
2017

Resolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy.

The Journal of antimicrobial chemotherapy
2017

Elderly Man With Bullous Eruption on the Feet.

Annals of emergency medicine
2018

Blisters, 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 : JDDG
2017

Bullous lesions in a haemodialysis patient.

Nephrology (Carlton, Vic.)
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Doenças relacionadas

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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.

  1. From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.
    Annals of medicine and surgery (2012)· 2026· PMID 41675771mais citado
  2. Genetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.
    Free radical biology &amp; medicine· 2026· PMID 41539024mais citado
  3. Stability of plasma and erythrocyte porphyrins: implications for diagnosis and monitoring of erythropoietic protoporphyria.
    Journal of clinical pathology· 2026· PMID 41162157mais citado
  4. Porphyria cutanea tarda.
    The British journal of dermatology· 2026· PMID 41546651mais citado
  5. Responses to 'Responses to "red fluorescence in porphyria cutanea tarda"'.
    Journal of the European Academy of Dermatology and Venereology : JEADV· 2026· PMID 41174956mais citado
  6. Porphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina.
    Medicina (B Aires)· 2025· PMID 41313100recente
  7. Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.
    Hepatol Commun· 2025· PMID 41236019recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:101330(Orphanet)
  2. MONDO:0015104(MONDO)
  3. GARD:7433(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. 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

Porfiria cutânea tardia
Compêndio · Raras BR

Porfiria cutânea tardia

ORPHA:101330 · MONDO:0015104
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Multigenic/multifactorial
CID-10
E80.1 · Porfiria cutânea tardia
CID-11
OMIM
OMIM:176100
Início
Adult
Prevalência
4.0 (Europe)
MedGen
UMLS
C0162566
EuropePMC
Wikidata
Wikipedia
Papers 10a
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