Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients [PDF]
Anais Brasileiros de Dermatologia, 2013 BACKGROUND: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme.
Fatima Mendonca Jorge Vieira +4 more
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Porphyria cutanea tarda exacerbation as a paraneoplastic syndrome in vaginal cancer resolved with chemoradiation [PDF]
Gynecologic Oncology Reports, 2021 Porphyria Cutanea Tarda (PCT) is a rare paraneoplastic syndrome. The effects of therapeutic ionizing radiation in patients with PCT are not well understood.
Sarah Z. Hazell +2 more
doaj +3 more sources
British Journal of Haematology, 2010 A 68-year-old man with relapsed follicular lymphoma developed redness, fragility, recurrent painful blistering and ulcerating lesions on sun-exposed areas of the skin, especially on the back of the hands (Figures). The appearance of the lesions led us to suspect porphyria cutanea tarda (PCT) which was confirmed by elevated urinary excretion of ...
Christoph, Sandra +3 more
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An overview of the cutaneous porphyrias [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
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Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria? [PDF]
Clin GenetWe report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD‐related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.
Dotto PG +4 more
europepmc +2 more sources
Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report. [PDF]
EJHaemABSTRACT Porphyria cutanea tarda (PCT) is caused by inherited or acquired defects of uroporphyrinogen decarboxylase (UROD) in the heme biosynthetic pathway. Altered iron homeostasis via hemochromatosis gene (HFE) mutations is one of many susceptibility factors associated with the sporadic form of PCT.
Kim JL, Crawford R, Lano IM, Merkeley H.
europepmc +2 more sources
Case Report: Treatment of porphyria cutanea tarda with low dose hydroxychloroquine [version 1; peer review: 1 approved, 2 approved with reservations] [PDF]
F1000Research, 2022 Background: Porphyria cutanea tarda (PCT) is a complex metabolic disease resulting from altered activity of the enzyme uroporphyrinogen decarboxylase (UROD) in the liver resulting in accumulation of uroporphyrin.
Alexander Nirenberg +2 more
doaj +2 more sources
Porphyria cutanea tarda: a case report [PDF]
Journal of Medical Case Reports, 2019 Background The porphyrias are a rare group of metabolic disorders that can either be inherited or acquired. Along the heme biosynthetic pathway, porphyrias can manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme ...
Hanife Usta Atmaca, Feray Akbas
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Treatment of Porphyria Cutanea Tarda Scarring With Combination Laser Treatment and a Pilot Use of Artificial Intelligence to Quantify Laser Results. [PDF]
J Cosmet DermatolABSTRACT Background Porphyria cutanea tarda (PCT) is the most common subtype of porphyria and results from a deficiency of the enzyme uroporphyrinogen decarboxylase. Even after successful treatment, patients can be left with significant scarring, and there is little published data on the safety and efficacy of light‐based or laser‐based therapies ...
Kesty CE, Kesty KR.
europepmc +2 more sources