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Porphyria cutanea tardae

Sumant Arora, Steven Young, Sudha Kodali, Ashwani K Singal
Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT)...
November 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Pablo Fernández-Crehuet, Ricardo Ruiz-Villaverde, Juan J Rios-Martin, Amalia Pérez-Gil, Francisco Camacho-Martinez
No abstract text is available yet for this article.
October 21, 2016: Dermatologic Therapy
Yun Tong, Ye Kyung Song, Stephen Tyring
No abstract text is available yet for this article.
December 1, 2016: JAMA Dermatology
Eric M Neverman, Rochelle Parker
No abstract text is available yet for this article.
October 1, 2016: Journal of the American Osteopathic Association
Colin P Farrell, Jessica R Overbey, Hetanshi Naik, Danielle Nance, Gordon D McLaren, Christine E McLaren, Luming Zhou, Robert J Desnick, Charles J Parker, John D Phillips
: Both familial and sporadic porphyria cutanea tarda (PCT) are iron dependent diseases. Symptoms of PCT resolve when iron stores are depleted by phlebotomy, and a sequence variant of HFE (C282Y, c.843G>A, rs1800562) that enhances iron aborption by reducing hepcidin expression is a risk factor for PCT. Recently, a polymorphic variant (D519G, c.1556A>G, rs11558492) of glyceronephosphate O-acyltransferase (GNPAT) was shown to be enriched in male patients with type I hereditary hemochromatosis (HFE C282Y homozygotes) who presented with a high iron phenotype, suggesting that GNPAT D519G, like HFE C282Y, is a modifier of iron homeostasis that favors iron absorption...
2016: PloS One
Urszula Szlendak, Ksenia Bykowska, Agnieszka Lipniacka
Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are largely expressed either in the liver or bone marrow, the sites where the majority of heme is produced. Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral attacks, and disorders of the nervous system...
March 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Valéria Aparecida Zanela Franzon, Emanuella Stella Mikilita, Fernanda Henriques Camelo, Rosana Camargo
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 suggest that HIV infection associated with cofactors might trigger the development of porphyria cutanea tarda. In this case report, we present a patient infected with HIV, who after the introduction of antiretroviral therapy (ART) enjoyed clinical improvement of porphyria cutanea tarda symptoms...
July 2016: Anais Brasileiros de Dermatologia
M M Hatch, Z Nawas, R Kollipara, S K Tyring
Porphyria cutanea tarda (PCT) is the most common type of porphyria. It is caused by decreased activity of uroporphyrinogen decarboxylase, the fifth enzyme in the heme biosynthetic pathway, which converts uroporphyrinogen to coproporphyrinogen. A strong association with hepatitis C (HCV) has been reported and infection with the virus is a common precipitant. This article is protected by copyright. All rights reserved.
August 23, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Kyung Hee Kim, Ki Young Oh
Phlebotomy is the removal of blood from the body, and therapeutic phlebotomy is the preferred treatment for blood disorders in which the removal of red blood cells or serum iron is the most efficient method for managing the symptoms and complications. Therapeutic phlebotomy is currently indicated for the treatment of hemochromatosis, polycythemia vera, porphyria cutanea tarda, sickle cell disease, and nonalcoholic fatty liver disease with hyperferritinemia. This review discusses therapeutic phlebotomy and the related disorders and also offers guidelines for establishing a therapeutic phlebotomy program...
2016: Journal of Blood Medicine
Joanna H Tu, Sarah L Sheu, Joyce M Teng
Importance: Erythropoietic protoporphyria (EPP) is a rare hereditary disease of heme biosynthesis that manifests as severe photosensitivity and hepatotoxicity. There have been no effective treatments to date. Cimetidine has been shown to inhibit heme biosynthesis and results in symptomatic improvement in patients with acute intermittent porphyria (AIP) and porphyria cutanea tarda (PCT). There is only 1 report in the literature describing the use of cimetidine in the effective treatment of an adult patient with EPP...
November 1, 2016: JAMA Dermatology
Sibashish Kamal Guha, Debabrata Bandyopadhyay, Abanti Saha, Niharika Ranjan Lal
Porphyria cutanea tarda (PCT), a relatively uncommon metabolic disease, is the most common cutaneous porphyria. Here, we present the case of a patient diagnosed with sporadic, nonfamilial PCT that presented with classical cutaneous findings and multiple risk factors, including alcohol abuse, human immunodeficiency virus/AIDS, that have been strongly associated with the sporadic form of PCT.
May 2016: Indian Journal of Dermatology
F Lacarrubba, A E Verzì, M Pippione, G Micali
BACKGROUND: Vesicobullous disorders are characterized by intraepidermal or subepidermal blistering resulting from different pathogenetic mechanisms. The diagnosis is generally based on clinical examination and semi-invasive/invasive procedures such as cytology and histopathology. In vivo reflectance confocal microscopy (RCM) is a non-invasive technique for real-time, en face imaging of the epidermis and upper dermis with high resolution close to conventional histopathology. PURPOSE: To evaluate RCM features of different vesicobullous diseases and correlate with cytologic and histopathologic examination...
November 2016: Skin Research and Technology
Anne L Christiansen, Lise Aagaard, Aleksander Krag, Lars M Rasmussen, Anette Bygum
Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias. We present here an overview of symptoms and a flowchart for the diagnosis of cutaneous porphyrias, with recommendations for monitoring and an update of treatment options. From the Danish Porphyria Register, we present the incidences and approximate prevalences of cutaneous porphyrias within the last 25 years...
November 2, 2016: Acta Dermato-venereologica
Zobair Younossi, Haesuk Park, Linda Henry, Ayoade Adeyemi, Maria Stepanova
BACKGROUND & AIMS: Hepatitis C virus (HCV) infection has hepatic and extrahepatic manifestations with various costs and impairments to health-related quality of life (HRQL). We performed a meta-analysis to determine the prevalence of extrahepatic manifestations in patients with HCV infection, how these impair HRQL, and their costs. METHODS: We performed systematic reviews of the literature using MEDLINE, CINAHL, and the Cochrane Systematic Review Database, from 1996 through December 2014, to identify studies of the following extrahepatic manifestations of HCV infection: mixed cryoglobulinemia, chronic kidney or end-stage renal disease, type 2 diabetes, B-cell lymphoma, lichen planus, Sjögren's syndrome, porphyria cutanea tarda, rheumatoid-like arthritis, or depression...
June 2016: Gastroenterology
James C Barton, Corwin Q Edwards
Porphyria cutanea tarda (PCT) is characterized by decreased uroporphyrinogen decarboxylase activity in hepatocytes, uroporphyrin I and heptacarboxyl porphyrin III accumulation, photosensitivity dermatitis, and increased storage iron. In women, estrogen therapy, including oral contraceptives, postmenopausal hormone replacement, and tamoxifen for breast cancer treatment, is a risk factor for PCT. We report the case of a woman who presented with PCT, HFE C282Y homozygosity, and hepatic iron overload and was using a contraceptive vaginal ring containing ethinyl estradiol, an estrogen...
2016: Journal of Community Hospital Internal Medicine Perspectives
Sheena Bharti, Prashant Malhotra, Bruce Hirsch
Porphyrias are a group of metabolic disorders that are relatively uncommon and underdiagnosed. Although the association between HIV infection and antiretrovirals with porphyria cutanea tarda is well established, there is less data linking HIV and the acute hepatic porphyrias. We report the first case of acute intermittent porphyria precipitated by the drugs atazanavir and ritonavir, presenting with unexplained abdominal pain.
February 11, 2016: International Journal of STD & AIDS
Allard R J V Vossen, Lianne S M Boesten, Peter D Siersema, Ruud G L Nellen
The porphyrias are a clinically and genetically heterogeneous group of relatively rare metabolic diseases that result from disorders in the biosynthesis of haeme. Porphyria cutanea tarda (PCT) is the most common type, accounting for 80-90% of all porphyrias, and is essentially an acquired disease, although PCT can also occur on a familial basis. We describe a 71-year-old female and a 62-year-old male patient, both of whom had several risk factors for developing PCT, ranging from iron overload due to a mutation in the hereditary haemochromatosis protein (HFE) gene, alcohol use, smoking, and exogenous oestrogen, to persistent hepatitis C infection...
2016: Nederlands Tijdschrift Voor Geneeskunde
Janice Andersen, Karin Nordin, Sverre Sandberg
Porphyria cutanea tarda (PCT) requires long-term treatment and follow-up, although many patients experience life-long remission. The aim of this cross-sectional postal survey was to describe and investigate the association between illness perception, health complaints, self-reported symptoms and distress in persons with PCT. The participants perceived PCT as a chronic condition with high levels of personal and treatment control. Persons who reported active symptoms scored higher on perceived illness threat, total health complaints and psychological distress compared with those in remission or latent phases...
June 15, 2016: Acta Dermato-venereologica
Bettina Kranzelbinder, Michaela Wiednig, Laila El-Shabrawi-Caelen, Werner Aberer, Elisabeth Aberer
No abstract text is available yet for this article.
September 2015: European Journal of Dermatology: EJD
Simone Garcovich, Matteo Garcovich, Rodolfo Capizzi, Antonio Gasbarrini, Maria Assunta Zocco
The association of chronic hepatitis C virus (HCV) infection with a wide spectrum of cutaneous manifestations has been widely reported in the literature, with varying strength of epidemiological association. Skin diseases which are certainly related with chronic HCV infection due to a strong epidemiological and pathogenetic association are mixed cryoglobulinemia, lichen planus and porphyria cutanea tarda. Chronic pruritus and necrolytic acral erythema are conditions that may share a possible association with HCV infection, while several immune-mediated inflammatory skin conditions, such as psoriasis, chronic urticaria and vitiligo, have been only anecdotally reported in the setting of chronic HCV infection...
November 28, 2015: World Journal of Hepatology
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