Porphyria Cutanea Tarda
Mostrando 1-12 de 31 artigos, teses e dissertações.
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1. Epidermolysis bullosa acquisita
Abstract Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes. Sk
Anais Brasileiros de Dermatologia. Publicado em: 2022
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2. Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C
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, photoprotec
An. Bras. Dermatol.. Publicado em: 17/10/2019
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3. Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)
Abstract: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Ri
An. Bras. Dermatol.. Publicado em: 2018-02
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4. Porphyria cutanea tarda in a HIV- positive patient
Abstract: This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of uroporphyrinogen decarboxylase (Urod), which may be hereditary or acquired. Several studies sugge
An. Bras. Dermatol.. Publicado em: 2016-08
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5. Porphyria cutanea tarda and Sjogren's syndrome
Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea tarda associated with primary sjogren's syndrome.
An. Bras. Dermatol.. Publicado em: 2014-07
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6. Porfiria cutânea tardia com mutações do gene da hemocromatose C282Y e H63D e análise retrospectiva do perfil de ferro em relação ao tratamento: estudo de 60 casos / Porphyria cutanea tarda with hemochromatosis gene mutations C282Y and H63D and retrospective analysis of the iron profile in relation to treatment: study of 60 cases
Background: Porphyria cutanea tarda (PCT) is the most common form of porphyria and is characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with PCT worldwide, although up to date only one study has been conducted in Brazil. Objective: Study the associ
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 24/10/2012
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7. Porphyria cutanea tarda. Evolution study of the clinical and laboratory features: biochemistry, immunofluorescence and light microscopy / "Porfiria cutânea tardia. Estudo evolutivo das características clínicas e laboratoriais: bioquímica, imunofluorescência e microscopia óptica"
Porphyria cutanea tarda is caused by the inherited or acquired partial deficiency of the uroporphyrinogen decarboxylase enzyme activity, resulting in the accumulation of uroporphyrin and hepta-carboxyl porphyrinogen in the liver. The purpose of this study was to investigate the clinical and laboratory features: biochemistry and the alterations on skin morpho
Publicado em: 2006
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8. The decrease in uroporphyrinogen decarboxylase activity induced by ethanol predisposes rats to the development of porphyria and accelerates xenobiotic-triggered porphyria, regardless of hepatic damage
We evaluated the porphyrinogenic ability of ethanol (20% in drinking water) per se, its effect on the development of sporadic porphyria cutanea tarda induced by hexachlorobenzene in female Wistar rats (170-190 g, N = 8/group), and the relationship with hepatic damage. Twenty-five percent of the animals receiving ethanol increased up to 14-, 25-, and 4.5-fold
Brazilian Journal of Medical and Biological Research. Publicado em: 2002-11
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9. Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.
A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes com
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10. Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
Uroporphyrinogen decarboxylase (URO-D) is a cytosolic heme-biosynthetic enzyme that converts uroporphyrinogen to coproporphyrinogen. Defects at the uroporphyrinogen decarboxylase locus cause the human genetic disease familial porphyria cutanea tarda. A splice site mutation has been found in a pedigree with familial porphyria cutanea tarda that causes exon 6
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11. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
Uroporphyrinogen decarboxylase activity was measured in liver and erythrocytes of normal subjects and in patients with porphyria cutanea tarda and their relatives. In patients with porphyria cutanea tarda, hepatic uroporphyrinogen decarboxylase activity was significantly reduced (mean 0.43 U/mg protein; range 0.25-0.99) as compared to normal subjects (mean 1
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12. Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects (addendum).
A porphyria kindred in which the index case has porphyria variegata had also been shown to include a case of porphyria cutanea tarda, typical both from chemical and clinical features. The possibility that this was purely acquired rather than genetic seemed unlikely, but could not be wholly excluded. Recently, a niece of both of these cases, although asymptom