Porphyria cutanea tarda

Fritsch, Clemens; Lang, Kerstin; Schmiedeberg, Sherko von; Bolsen, K.; Merk, H; Lehmann, Percy; Ruzicka, Thomas

doi:10.1159/000029855

Cited by 13 publications

(9 citation statements)

References 86 publications

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“…Our results revealed, that the m4 polymorphism occurred statistically significantly more often in the PCT type II group and not in type I compared with the healthy controls. The genetic mutations known in familial PCT alone are not sufficient to provoke PCT and additional porphyrogens are necessary (5,16). Our results indicate that the m4 polymorphism in Caucasian PCT type II patients might contribute to a higher susceptibility for porphyrogens.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the high incidence of hepatitis B virus (HBV) (30-40%) and C virus (HCV) infections (10-90%) as well as HIV-infections in PCT patients points to additional trigger factors (11)(12)(13)(14)(15). The main symptoms comprise bullae on the dorsal parts of the hands, increased skin fragility, prolonged wound healing, elastosis and periorbital hypertrichosis (6,(16)(17)(18).…”

Section: Introductionmentioning

confidence: 99%

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Cytochrome P4501A1 polymorphisms in a Caucasian population with porphyria cutanea tarda

Gardlo

Selimovic

Bolsen

et al. 2003

Experimental Dermatology

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Porphyria cutanea tarda (PCT) is the most frequent porphyria in humans. The familial type is in contrast to the sporadic type due to an inherited defect of the uroporphyrinogen-II-decarboxylase (URO-D) and both types need additional porphyrinogens to lead to the clinical manifestation of the disease. Various factors such as xenobiotics (i.e. polycyclic aromatic hydrocarbons), alcohol, hormones and viral liver infections (hepatitis B and C) are known to induce porphyria. Cytochrome p450 enzymes play a crucial role in the metabolism of porphyrogens and therefore might have an important influence on the pathogenesis of hepatic porphyrias. Association of CYP1A2 polymorphisms with susceptibility to both types of PCT has already been described in Danish patients. We investigated 65 caucasian patients with PCT in comparison to a healthy control group concerning the tpe of PCT and the cytochrome p4501A1 polymorphisms (m1, m2 and m4) using polymerase chain reaction (PCR) and a restriction fragment length polymorphism. We found an increased incidence of the m4 polymorphism in the familial type of PCT (odds ratio 5.5, P-value 0.01), whereas the m1 and m2 mutations, might be provoked by a higher susceptibility to porphyrogens via the cytochrome p4501A1 m4 polymorphism.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Cytochrome P4501A1 polymorphisms in a Caucasian population with porphyria cutanea tarda

Gardlo

Selimovic

Bolsen

et al. 2003

Experimental Dermatology

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“…6,7 During heme synthesis, the enzymatic step that converts uroporphyrinogen III to coproporphyrinogen is inhibited in PCT. 2 PCT can be divided into four types according to its In our case, mutations in the Uro-D or HFE genes were not detected despite the patient having a family history of photosensitivity. Therefore, our case could be classified as PCT type III.…”

Section: Discussionmentioning

confidence: 61%

“…1,2 Porphyria cutanea tarda (PCT), the most common form of porphyria, 1 is a metabolic disorder that is caused by reduced activity of the enzyme uroporphyrinogen decarboxylase (Uro-D) in the liver. 3,4 The main symptom of PCT is a skin manifestation.…”

Section: Introductionmentioning

confidence: 99%

Liver Cirrhosis Induced by Porphyria Cutanea Tarda: A Case Report and Review

Lee

Hyun²,

Seo³

et al. 2010

Gut Liver

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Porphyria cutanea tarda (PCT) is a metabolic disorder that results in a decrease in uroporphyrinogen decarboxylase activity. It is characterized by photosensitivity, bullae formation, and skin pigmentation. There are four types of PCT: acquired, familial, toxic, and hepatoerythropoietic. Uroporphyrin levels are elevated in the urine of PCT patients. PCT can be differentiated from other porphyrias by its clinical characteristics and the porphyrin levels in the serum, erythrocytes, urine, and feces. This metabolic disorder can lead to liver dysfunction as well as histological changes such as fatty infiltration or hepatic fibrosis. PCT rarely manifests as liver cirrhosis. We report herein a case of PCT-induced liver cirrhosis that progressed to hepatic failure. (Gut Liver 2010;4:551-555)

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“…Wichtig für den Patienten mit PCT ist eine Normalisierung der Porphyrinausscheidung im Urin mittels oraler Gabe von Chloroquin sowie Aderlässe [1].…”

Section: Diskussionunclassified

Pansklerotische Skleroporphyrie nach langjähriger Exposition gegenüber organischen Lösungsmitteln

Karamfilov¹,

Buslau²,

Dürr³

et al. 2003

Hautarzt

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A 63 year old man developed generalized scleroderma with massive sclerotic areas, particularly in the abdominal region, four years after being diagnosed with porphyria cutanea tarda (PCT). He had almost daily exposure to organic solvents (benzene, trichlorethylene) for many years. The cutaneous fibrosis progressed dramatically leading to a pansclerosis, even though the uroporphyrin levels were borderline and the liver enzyme values were normal. Organic solvents are among those substances which can cause a cutaneous fibrosis. The unusually complicated clinical development in our patient was a combination of the two initial factors, the PCT and the long term exposure to organic solvents. The pansclerotic PCT was differentiated from a systemic sclerosis, a disabling pansclerotic morphea and a generalized morphea by means of histological examinations, the absence of a Raynaud phenomenon and the non-involvement of additional organs. Auto-antibodies typical for systemic sclerosis were negative. Using a medium dosage of UVA1 phototherapy and intensive physiotherapy, the progression of the skin disease was stopped and the sclerosis improved.

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Porphyria cutanea tarda

Cited by 13 publications

References 86 publications

Cytochrome P4501A1 polymorphisms in a Caucasian population with porphyria cutanea tarda

Cytochrome P4501A1 polymorphisms in a Caucasian population with porphyria cutanea tarda

Liver Cirrhosis Induced by Porphyria Cutanea Tarda: A Case Report and Review

Pansklerotische Skleroporphyrie nach langjähriger Exposition gegenüber organischen Lösungsmitteln

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