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porphyria cutanea tarda

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https://www.readbyqxmd.com/read/29791431/pseudo-porphyria-or-porphyria-cutanea-tarda
#1
Vitorino Modesto Dos Santos
No abstract text is available yet for this article.
January 2018: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/29789288/porphyria-cutanea-tarda-presenting-as-milia-and-blisters
#2
Long Hoai Nguyen, Karima Khamisa
No abstract text is available yet for this article.
May 22, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29774528/slc40a1-and-cp-single-nucleotide-polymorphisms-in-porphyria-cutanea-tarda-patients-of-mixed-ancestry
#3
Isabella Brasil Succi, Luís Cristóvão Pôrto, Dayse Silva, Adriana Nascimento, Ronald Costa Neto, João Carlos Fonseca
Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation. Genomic DNA from 29 PCT patients was isolated...
May 17, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29750336/relapse-of-porphyria-cutanea-tarda-after-treatment-with-phlebotomy-or-4-aminoquinoline-antimalarial-a-meta-analysis
#4
H Salameh, H Sarairah, M Rizwan, Y-F Kuo, K E Anderson, A K Singal
INTRODUCTION: Porphyria cutanea tarda (PCT), the most common human porphyria, due to hepatic deficiency of uroporphyrinogen decarboxylase (UROD) activity, which is acquired in the presence of multiple susceptibility factors. PCT presents clinically with cutaneous blistering photosensitivity and is readily treatable with either repeated phlebotomy or 4-aminoquinoline antimalarial. We performed a systematic review and meta-analysis to compare the effectiveness of these quite different treatment approaches, especially on relapse rates after achieving remission...
May 11, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29644058/porphyria-and-kidney-diseases
#5
Nicolas Pallet, Alexandre Karras, Eric Thervet, Laurent Gouya, Zoubida Karim, Hervé Puy
The kidneys, after the bone marrow and liver, are third in terms of the amounts of haem synthesized daily. Haem is incorporated into haemoproteins that are critical to renal physiology. In turn, disturbances in haem metabolism interfere with renal physiology and are tightly interrelated with kidney diseases. Acute intermittent porphyria causes kidney injury, whereas medical situations associated with end-stage renal disease, such as porphyrin accumulation, iron overload and hepatitis C, participate in the inhibition of uroporphyrinogen decarboxylase and predispose the individual to porphyria cutanea tarda...
April 2018: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29553924/porphyria-what-is-it-and-who-should-be-evaluated
#6
Yonatan Edel, Rivka Mamet
The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Other symptoms which could appear include hypertension, hyponatremia, peripheral neuropathy, and mild mental symptoms...
April 19, 2018: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/29516487/diagnosing-diabetes-mellitus-in-patients-with-porphyria-cutanea-tarda
#7
REVIEW
Anne L Christiansen, Anette Bygum, Ole Hother-Nielsen, Lars M Rasmussen
The prevalence of diabetes mellitus is increased in patients with porphyria cutanea tarda. Different tests are available for diagnosing and screening for type II diabetes mellitus, however choosing the most suitable test is challenging. The pitfalls in the different tests along with the interfering comorbidities and treatments concerning patients with porphyria cutanea tarda complicate diagnosing these patients with diabetes mellitus. HbA1c, fasting glucose, or oral glucose tolerance are the current available tests, with HbA1c as first choice...
March 8, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29459814/-porphyria-cutanea-tarda-as-extrahepatic-manifestation-of-chronic-hepatitis-c-a-case-report
#8
Jorge Espinoza-Ríos, Vanessa Valenzuela Granados, Manuel Ojeda Cisneros, Aldo Gálvez Canseco, Cesar Ramos Aguilar, Brunella Raymundo Villalva, Victor Aguilar Sánchez, José Pinto Valdivia, Jorge Huerta-Mercado Tenorio, Alejandro Bussalleu Rivera
The present case is a 56 year old male who present hyperpigmented and hypopigmented scars in both hands, associated with the presence of milia cysts. It was studied the metabolism of porphyrins and skin biopsy of the lesions which were compatible with porphyria cutanea tarda. In the initial laboratory, elevated transaminases values were found and subsequently identified chronic infection of hepatitis C virus. In order to treat viral infection and resolve the dermal commitment; considered extrahepatic manifestation of hepatitis C virus, treatment was started with pegylated interferon and ribavirin, with favorably development and rapid viral response, with undetectable viral load until now (24 weeks of treatment), decreased level of serum transaminases and improvement of skin lesions...
October 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/29416446/urinary-metabolic-profiling-of-asymptomatic-acute-intermittent-porphyria-using-a-rule-mining-based-algorithm
#9
Margaux Luck, Caroline Schmitt, Neila Talbi, Laurent Gouya, Cédric Caradeuc, Hervé Puy, Gildas Bertho, Nicolas Pallet
Introduction: Metabolomic profiling combines Nuclear Magnetic Resonance spectroscopy with supervised statistical analysis that might allow to better understanding the mechanisms of a disease. Objectives: In this study, the urinary metabolic profiling of individuals with porphyrias was performed to predict different types of disease, and to propose new pathophysiological hypotheses. Methods: Urine 1 H-NMR spectra of 73 patients with asymptomatic acute intermittent porphyria (aAIP) and familial or sporadic porphyria cutanea tarda (f/sPCT) were compared using a supervised rule-mining algorithm...
2018: Metabolomics: Official Journal of the Metabolomic Society
https://www.readbyqxmd.com/read/29370566/total-corneal-melt-in-patient-with-porphyria-cutanea-tarda-in-presence-of-another-risk-factor
#10
Sudesh Kumar Arya, Amit Raj, Piyush Kohli, Ravi Kant Bamotra
PURPOSE: To report a case of two siblings affected by porphyria cutanea tarda (PCT) presenting with varying severity of ocular disease and evaluation of difference in the presence of risk factors. METHODS: Case report Result: A 42-year-old Indian male diagnosed with PCT and history of daily intake of alcohol, presented with sudden decrease in vision of right eye. Examination showed perforated cornea surrounded by rim of 360-degree avascular necrotic sclera, with no evidence of infection...
January 25, 2018: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29332930/bullosis-diabeticorum-a-rare-presentation-with-immunoglobulin-g-igg-deposition-related-vasculopathy-case-report-and-focused-review
#11
Hardik Sonani, Sohail Abdul Salim, Vishnu V Garla, Anna Wile, Venkataraman Palabindala
BACKGROUND Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Porphyria cutanea tarda, bullous pemphigoid, epidermolysis bullosa, and pseudoporphyria are other differential diagnoses of bullous lesions, and they must be excluded...
January 15, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29152226/an-overview-of-the-cutaneous-porphyrias
#12
REVIEW
Robert Dawe
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. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. All the cutaneous porphyrias can have (either as a consequence of the porphyria or as part of the cause of the porphyria) involvement of other organs as well as the skin...
2017: F1000Research
https://www.readbyqxmd.com/read/29091216/resolution-of-porphyria-cutanea-tarda-in-hiv-and-mixed-hcv-coinfection-after-direct-acting-antiviral-daa-therapy
#13
B Bruzzone, O Magnani, L Sticchi, P Canepa, E Rappazzo, G Icardi, M Setti
No abstract text is available yet for this article.
October 1, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28884440/disappearance-of-multiple-hyperechoic-liver-nodules-in-sporadic-porphyria-cutanea-tarda-after-treatment-with-ledipasvir-sofosbuvir-for-hepatitis-c
#14
Kazuhide Takata, Satoshi Shakado, Keiko Sakamoto, Hiromi Fukuda, Ryo Yamauchi, Sho Fukuda, Hideo Kunimoto, Kaoru Umeda, Takashi Tanaka, Keiji Yokoyama, Daisuke Morihara, Yasuaki Takeyama, Makoto Irie, Shotaro Sakisaka
Ultrasonography in a 60-year-old man with chronic hepatitis C (CHC) demonstrated multiple hyperechoic nodules. Radiological investigations did not reveal any signs of malignancy. However, magnetic resonance chemical shift imaging showed multiple focal fatty changes in the liver. Urinary levels of uroporphyrin and coproporphyrin were elevated, and we made a diagnosis of porphyria cutanea tarda. Direct-acting antivirals, ledipasvir/sofosbuvir, were initiated for CHC, which led to sustained viral response, resolution of the liver nodules, and normalization of urinary porphyrin...
October 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28815861/radiation-and-chemotherapy-with-no-excessive-toxicity-in-a-patient-with-human-papillomavirus-related-tonsillar-cancer-and-porphyria-cutanea-tarda-case-report-and-literature-review
#15
James K Russo, Annie Braseth
BACKGROUND: Porphyria is a condition of cutaneous photosensitivity. It is unclear if radiotherapy (RT) is safe in patients with porphyria. METHODS: We report a patient case with uncontrolled porphyria cutanea tarda treated with chemoradiation for p16-positive oropharyngeal cancer. Given the scarcity of data on this subject, we also conducted a literature review on the topic of radiation in patients with porphyria. RESULTS: The patient in our study did not experience any unusual acute or late toxicity, despite receiving a high dose of cutaneous radiation...
August 16, 2017: Head & Neck
https://www.readbyqxmd.com/read/28755733/hepatitis-c-viral-infection-and-porphyria-cutanea-tarda
#16
EDITORIAL
Jeffrey P Callen
No abstract text is available yet for this article.
July 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28712039/cutaneous-manifestations-of-scleroderma-and-scleroderma-like-disorders-a-comprehensive-review
#17
REVIEW
Caterina Ferreli, Giulia Gasparini, Aurora Parodi, Emanuele Cozzani, Franco Rongioletti, Laura Atzori
Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations...
December 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28689593/dermatologic-manifestations-of-chronic-hepatitis-c-infection
#18
REVIEW
Mehmet Sayiner, Pegah Golabi, Freba Farhat, Zobair M Younossi
Chronic hepatitis C virus (HCV) infection is associated with various extrahepatic manifestations, including dermatologic involvement mostly caused by immune complexes. Mixed cryoglobulinemia has a strong relationship with HCV with 95% of these patients being infected with HCV. Lichen planus is a disease of the squamous epithelium and may affect any part of the skin, with 4% to 24% of patients with lichen planus reported to have chronic HCV infection. Porphyria cutanea tarda is the most common form of porphyria, and it is thought that HCV interferes with iron stores, which can promote porphyria cutanea tarda...
August 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28641714/hepatitis-c-treatment-in-patients-with-porphyria-cutanea-tarda
#19
Ashwani K Singal, Krishna V R Venkata, Sarat Jampana, Fakhar-Ul Islam, Karl E Anderson
BACKGROUND: Hepatitis C virus (HCV) infection is a common susceptibility factor for porphyria cutanea tarda (PCT). Experience on HCV treatment in patients with PCT is limited. Recently, HCV treatment has improved with direct-acting antivirals (DAA). We review our experience on HCV treatment in patients with PCT with older and newer regimens. MATERIALS AND METHODS: A retrospective chart review was conducted. HCV treatment was attempted 22 times in 13 patients with PCT (5 attempts in 1, 2 in 5 and 1 in the other 7 patients)...
June 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28634198/the-effect-of-sustained-virological-response-on-the-risk-of-extrahepatic-manifestations-of-hepatitis-c-virus-infection
#20
Parag Mahale, Eric A Engels, Ruosha Li, Harrys A Torres, Lu-Yu Hwang, Eric L Brown, Jennifer R Kramer
BACKGROUND AND AIM: Chronic HCV infection is associated with several extrahepatic manifestations (EHMs). Data on the effect of sustained virological response (SVR) on the risk of EHMs are limited. METHODS: We conducted a retrospective cohort study using data of patients from the US Veterans Affairs HCV Clinical Case Registry who had a positive HCV RNA test (10/1999-08/2009). Patients receiving interferon-based antiviral therapy (AVT) were identified. SVR was defined as negative HCV RNA at least 12 weeks after end of AVT...
March 2018: Gut
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