2,229 results match your criteria Porphyria Cutanea Tarda


Hydroxychloroquine Alternatives for Chronic Disease: Response to a Growing Shortage Amid the Global COVID-19 Pandemic.

J Pharm Pract 2020 Jul 31:897190020942658. Epub 2020 Jul 31.

Department of Biomedical Sciences, Rocky Vista University, Parker, CO, USA.

With the emergence of a novel severe acute respiratory syndrome coronavirus, investigators worldwide are scrambling to identify appropriate treatment modalities, develop accurate testing, and produce a vaccine. To date, effective treatment remains elusive. Chloroquine phosphate and hydroxychloroquine sulfate (HCQ), well-known antimalarial drugs effective in the treatment of systemic lupus erythematosus, rheumatoid arthritis, porphyria cutanea tarda, and chronic Q fever, are currently under investigation. Read More

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http://dx.doi.org/10.1177/0897190020942658DOI Listing

Porphyria Cutanea Tarda Associated with Nitrofurantoin: A Unique Drug Reaction.

Dermatol Ther 2020 Jul 17:e14026. Epub 2020 Jul 17.

Department of Dermatology, UMass Memorial Health Care, University of Massachusetts Medical School, Worcester, MA.

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http://dx.doi.org/10.1111/dth.14026DOI Listing

Diagnostic and therapeutic strategies for porphyrias.

Neth J Med 2020 Jul;78(4):149-160

Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands.

Porphyrias are rare metabolic disorders. Lack of awareness and knowledge about the clinical features of porphyrias results in diagnostic and therapeutic delays for many patients. Delays in diagnosing and treating porphyrias can result in severe, progressive morbidity (and mortality) and psychological distress for patients. Read More

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Multiple milia formation in blistering diseases.

Int J Womens Dermatol 2020 Jun 1;6(3):199-202. Epub 2020 Apr 1.

Department of Dermatology, University of New South Wales, Sydney, Australia.

Background: Milia are superficial keratinous cysts seen as pearly white, dome-shaped lesions 1-2 mm in diameter. Milia are associated with diseases that cause subepidermal blistering, such as hereditary forms of epidermolysis bullosa, epidermolysis bullosa acquisita, bullous pemphigoid, bullous lichen planus, and porphyria cutanea tarda. Multiple eruptive milia are rare and more extensive in number than primary milia. Read More

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http://dx.doi.org/10.1016/j.ijwd.2020.03.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330451PMC

Porphyria cutanea tarda unmasked by supratherapeutic estrogen during gender-affirming hormone therapy.

JAAD Case Rep 2020 Jul 11;6(7):675-678. Epub 2020 May 11.

Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1016/j.jdcr.2020.04.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327305PMC

Porphyria Cutanea Tarda.

Clin Gastroenterol Hepatol 2020 May 21. Epub 2020 May 21.

Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.cgh.2020.05.028DOI Listing

Editorial: hepatitis C and porphyria cutanea tarda in 2020.

Aliment Pharmacol Ther 2020 Jun;51(12):1432-1434

Section on Gastroenterology & Hepatology, Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

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http://dx.doi.org/10.1111/apt.15728DOI Listing

Porphyria Cutanea Tarda Due to Primary Hemochromatosis.

Am J Med 2020 May 13. Epub 2020 May 13.

Department of Dermatology, Hospital del Salvador, Santiago, Chile.

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http://dx.doi.org/10.1016/j.amjmed.2020.03.053DOI Listing

Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

ACG Case Rep J 2019 Nov 26;6(11):e00247. Epub 2019 Nov 26.

Department of Gastroenterology and Hepatology, Saint Louis University Hospital, St Louis, MO.

Porphyria cutanea tarda (PCT) is a skin disorder characterized by abnormal heme synthesis. We present a 45-year-old man with intermittent skin lesions recurring annually for years. Skin biopsy and measurement of serum heme precursors confirmed a diagnosis of PCT. Read More

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http://dx.doi.org/10.14309/crj.0000000000000247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145215PMC
November 2019

Resolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct-acting anti-virals.

Aliment Pharmacol Ther 2020 05 15;51(10):968-973. Epub 2020 Apr 15.

Liver Unit, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS) and Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.

Background: Hepatitis C virus (HCV) is a risk factor for porphyria cutanea tarda (PCT), a rare disease originating in the liver characterised by overproduction of porphyrins. Although hepatitis C infection is highly prevalent among patients with porphyria, only a minority of hepatitis C patients develop PCT.

Aims: To explore the presence of porphyrin abnormalities in a cohort of asymptomatic hepatitis C-infected patients and the impact of anti-viral therapy. Read More

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http://dx.doi.org/10.1111/apt.15703DOI Listing

A Case-Based Review of Iron Overload With an Emphasis on Porphyria Cutanea Tarda, Hepatitis C, C282Y Heterozygosity, and Coronary Artery Disease.

Fed Pract 2020 Feb;37(2):95-100

is the Ambulatory Care Clerkship Director and an Attending Physician, Ambulatory Care Medicine; and is an Attending Physician, Ambulatory Care Medicine, both at the West Los Angeles VA Medical Center in California. Leila Hashesmi and Robert Nisenbaum are Assistant Professors of Clinical Medicine at the David Geffen School of Medicine at University of California, Los Angeles.

Iron overload can impact disease progression and treatment options for patients with comorbid conditions, such as porphyria cutanea tarda, hepatitis C virus, and coronary artery disease. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138343PMC
February 2020

Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study.

Health Qual Life Outcomes 2020 Mar 30;18(1):84. Epub 2020 Mar 30.

Department of Medical Biochemistry and Pharmacology, Norwegian Porphyria Centre (NAPOS), Haukeland University Hospital, N-5021, Bergen, Norway.

Background: Porphyria cutanea tarda (PCT) is a rare, photosensitive disease characterized by skin fragility and blistering on sun-exposed areas. There is little previous research on how this condition affects health-related quality of life (HRQoL) and to the best of our knowledge this is the largest sample of PCT patients surveyed about their HRQoL. The aims of this study were to describe HRQoL, symptoms, susceptibility factors, disease activity and treatment in patients with PCT, and investigate the associations between these factors. Read More

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http://dx.doi.org/10.1186/s12955-020-01328-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106654PMC

Secondary hemosiderosis presented by porphyria cutanea tarda in a kidney dialysis patient: A case report.

SAGE Open Med Case Rep 2020 22;8:2050313X20907815. Epub 2020 Feb 22.

Pathology, Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

A 68-year-old woman with chronic kidney disease receiving dialysis and iron supplementation presented to our hospital with painful blisters, fragile skin, and changes to skin pigmentation on the dorsal side of both upper and lower limbs. Skin biopsy findings and an increase in urine porphyrins confirmed the diagnosis of porphyria cutanea tarda. Upon examination, extremely high serum ferritin levels (6000 µg/L) suggested iron overload. Read More

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http://dx.doi.org/10.1177/2050313X20907815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036493PMC
February 2020

Intrahepatic Cholangiocarcinoma Associated with High Procalcitonin, Hypercalcemia, Polycythemia and Leukocytosis.

Cureus 2020 Jan 7;12(1):e6587. Epub 2020 Jan 7.

Gastroenterology, University of Tennessee Health Science Center, Memphis, USA.

Intrahepatic cholangiocarcinomas or bile duct cancers comprise approximately 10-20% of all cholangiocarcinomas and may present with right upper quadrant pain, weight loss, liver enzyme abnormalities or they may be completely asymptomatic and be picked incidentally on routine abdominal imaging. Typically, hepatocellular carcinomas have been associated with various paraneoplastic syndromes such as hypercalcemia, erythrocytosis, hypoglycemia, diarrhea and skin changes though paraneoplastic syndromes in the setting of cholangiocarcinoma do occur as well. Cholangiocarcinomas are usually associated with dermal paraneoplastic syndromes (Sweet syndrome, porphyria cutanea tarda, acanthosis nigricans, necrotic migratory erythema, erythema multiforme, bullous pemphigoid), hypercalcemia, leukocytosis and limbic encephalitis. Read More

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http://dx.doi.org/10.7759/cureus.6587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001129PMC
January 2020

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.

Dermatol Online J 2019 Dec 15;25(12). Epub 2019 Dec 15.

The Laser Skin & Surgery Center of New York, New York, NY New York University Langone Medical Center, The Ronald O. Perelman Department of Dermatology, New York, NY.

Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars. Porphyria cutanea tarda occurs in relation to inhibition of uroporphyrinogen decarboxylase, a key enzyme in the heme biosynthesis pathway. A number of genetic and acquired factors increase susceptibility to PCT by reducing uroporphyrinogen decarboxylase activity. Read More

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December 2019

Chronic blistering rash on hands.

J Fam Pract 2019 11;68(9):519-521

Department of Dermatology, Penn State Milton S. Hershey Medical Center, PA, USA.

The location of the patient's lesions and multiple risk factors suggested that an uncommon disorder was at work. Read More

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November 2019

Successful evolution of morphea after hepatitis C virus eradication with direct-acting antiviral agent treatment.

Rev Esp Enferm Dig 2019 12;111(12):973

Aparato Digestivo, Hospital Universitario Fundación Alcorcón , España.

Hepatitis C virus infection has been associated with many dermatologic conditions such as lichen planus, porphyria cutanea tarda, and cryoglobulinemia. Recently, an association of HCV with systemic sclerosis has been reported. However, there are few reports of the association of localized scleroderma or morphea with Hepatitis C Virus infection. Read More

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http://dx.doi.org/10.17235/reed.2019.6461/2019DOI Listing
December 2019

An unusual bullous eruption: olanzapine induced pseudoporphyria.

BMJ Case Rep 2019 Nov 2;12(11). Epub 2019 Nov 2.

Endocrinology, Royal Liverpool University Hospital, Liverpool, UK.

A 27-year-old man with a background of schizophrenia presented during the summer months with a 2-day history of a blistering eruption predominantly affecting his hands, forearms and face. He had not knowingly been exposed to any chemicals or toxins and was otherwise well. Clinical examination revealed multiple, large, tense blisters affecting the sun-exposed sites. Read More

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http://dx.doi.org/10.1136/bcr-2019-232263DOI Listing
November 2019

Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C.

An Bras Dermatol 2019 17;94(4):479-481. Epub 2019 Oct 17.

Department of Dermatology and Radiotherapy, Faculdade de Medicina, Universidade Estadual Paulista, Botucatu, SP, Brazil.

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, photoprotection, and treatment of hepatitis. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20198681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007016PMC
October 2019
1 Read

Efficacy and Safety of Glecaprevir/pibrentasvir in a Patient With HCV-Induced Porphyria Cutanea Tarda Receiving Vedolizumab for Crohn´s Disease.

J Crohns Colitis 2020 May;14(4):567-568

Gastrointestinal Unit from Hospital Universitario de La Princesa, Instituto de Investigación Sanitaria Princesa [IIS-IP], and Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1093/ecco-jcc/jjz159DOI Listing
May 2020
1 Read

Grover's Disease in a Kidney Transplant Recipient.

Acta Dermatovenerol Croat 2019 Sep;27(3):192-194

Professor Nikolina Bašić-Jukić, MD, PhD, Department of Nephrology, Arterial , Hypertension, Dialysis and Transplantation, University Hospital Centre Zagreb, Kišpaticeva 12, 10000 Zagreb, Croatia;

Dear Editor, It is not unusual for patients with renal insufficiency to develop skin pathologies. There are reports in the literature of increased incidence of calciphylaxis, pruritus, perforating dermatoses, and porphyria cutanea tarda in this patient population (1). Although it is quite rare, Grover's disease (GD) has been reported in several patients with renal insufficiency, but only once in a renal transplant recipient (2). Read More

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September 2019
5 Reads
0.581 Impact Factor

Unsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria.

Skinmed 2019 9;17(3):161-170. Epub 2019 Sep 9.

Department of Dermatology, Rutgers University - New Jersey Medical School, Newark, NJ.

Cutaneous deposition disorders represent an array of conditions resulting from the accumulation of endogenous and exogenous substances within the skin. Many of the deposition diseases resemble each other and can also be confused with disorders not related to deposition. Porphyria cutanea tarda (PCT) results from dysfunction particularly in the fifth enzyme of the heme synthesis pathway, leading to increased skin fragility and bullae among other abnormalities. Read More

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February 2020
3 Reads

Increased mortality in patients with porphyria cutanea tarda-A nationwide cohort study.

J Am Acad Dermatol 2019 Jul 30. Epub 2019 Jul 30.

Departments of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus, Denmark; Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark.

Background: Porphyria cutanea tarda (PCT) is a rare hepatocutaneous disease for which the prognosis is largely unknown.

Objective: To compare all-cause and cause-specific mortality between a nationwide cohort of patients with PCT and a matched population sample.

Methods: We included all Danish patients who received a diagnosis of PCT from 1989 through 2012. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01909622193247
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http://dx.doi.org/10.1016/j.jaad.2019.07.082DOI Listing
July 2019
12 Reads

Do We Utilize Our Knowledge of the Skin Protective Effects of Carotenoids Enough?

Antioxidants (Basel) 2019 Jul 31;8(8). Epub 2019 Jul 31.

School of Medicine, University of Zagreb, Šalata 3, 10 000 Zagreb, Croatia.

Due to their potential health-promoting effects, carotenoids have drawn both scientific and public attention in recent years. The primary source of carotenoids in the human skin is diet, mainly fruits, vegetables, and marine product, but they may originate from supplementation and topical application, too. In the skin, they accumulate mostly in the epidermis and act as a protective barrier to various environmental influences. Read More

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http://dx.doi.org/10.3390/antiox8080259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719967PMC
July 2019
4 Reads

Heme biosynthesis and the porphyrias.

Authors:
John D Phillips

Mol Genet Metab 2019 11 22;128(3):164-177. Epub 2019 Apr 22.

Division of Hematology, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, United States of America. Electronic address:

Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is defective and leads to accumulation of pathway intermediates. Phenotypically, each disease leads to either neurologic and/or photocutaneous symptoms based on the metabolic intermediate that accumulates. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252266PMC
November 2019
7 Reads

A first report of porphyria cutanea tarda successfully treated with glycyrrhizin.

Dermatol Ther 2019 09 15;32(5):e13014. Epub 2019 Jul 15.

Changxing Skin Disease Hospital, Changxing, Zhejiang, China.

Porphyria cutanea tarda (PCT) is a condition that affects liver and skin by reduction of hepatic uroporphyrinogen decarboxylase activity. It is characterized by blistering lesions, erosions and crusts on sun-exposed areas. We report a 51-year-old male presenting with recurrent episodes of bullae, erosions, and crust on his neck and dorsum of the hands for 3 months. Read More

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http://dx.doi.org/10.1111/dth.13014DOI Listing
September 2019
12 Reads

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.

J Eur Acad Dermatol Venereol 2020 Jan 16;34(1):184-187. Epub 2019 Jul 16.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: From a dermatologist's perspective, there are four major types of cutaneous porphyrias (CPs): porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Scarce data are available regarding the epidemiology of CPs.

Objectives: To describe the epidemiology of CPs in Israel, including distribution, incidence and prevalence rates of major types. Read More

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http://dx.doi.org/10.1111/jdv.15769DOI Listing
January 2020
10 Reads

Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis.

J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619852769

1 Medical University of South Carolina, Charleston, SC, USA.

Porphyria cutanea tarda (PCT) is a condition of dysregulated heme synthesis that leads to accumulation of photosensitizing precursors with resultant fragility and blistering of the skin. It can be hereditary or acquired and has been known to be associated with hepatic C virus, alcohol, HIV, and estrogen. In this article, we report an unusual presentation of PCT associated with acute hemorrhagic pancreatitis in a 57-year-old man. Read More

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http://journals.sagepub.com/doi/10.1177/2324709619852769
Publisher Site
http://dx.doi.org/10.1177/2324709619852769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547174PMC
May 2020
16 Reads

Letters from Botswana: Photosensitive Eruption in an HIV-Positive Patient.

Skinmed 2019;17(2):135-137. Epub 2019 May 29.

Ministry of Health of Botswana, Gaborone, Botswana.

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December 2019
4 Reads

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions.

J Nepal Health Res Counc 2019 Apr 28;17(1):119-121. Epub 2019 Apr 28.

University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.

Porphyria cutaneatarda, is the most common type of porphyria.It is characterized by defective uroporphyrinogen III decarboxylase enzyme.It presents with erosion, bulla with milia formation and sometimes with hypertrichosis and abnormal pigmentation mostly on the photo-exposed sites. Read More

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http://dx.doi.org/10.33314/jnhrc.1132DOI Listing
April 2019
8 Reads

Porphyria Cutanea Tarda-like Lesions in a Child With a Hepatic Disease.

J Pediatr Gastroenterol Nutr 2020 03;70(3):e63

Pediatric and Liver Unit, Meyer Children's University Hospital of Florence, Florence, Italy.

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http://dx.doi.org/10.1097/MPG.0000000000002393DOI Listing
March 2020
7 Reads

Association between hepatitis C virus and porphyria cutanea tarda.

Mol Genet Metab 2019 11 9;128(3):282-287. Epub 2019 May 9.

Biochemistry and Molecular Genetics Unit, Hospital Clinic of Barcelona, University of Barcelona, Spain. Electronic address:

Porphyria cutanea tarda (PCT) arises from a deficiency of uroporphyrinogen decarboxylase (UROD) in the liver. Several exogenous risk factors are associated with the acquired form of the disease. In Southern Europe, PCT is strongly linked to hepatitis C virus (HCV) infection to the point that a high prevalence of viral infection in some geographic areas generated an increase of PCT cases as a complication. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.05.003DOI Listing
November 2019
14 Reads

Clinical Guide and Update on Porphyrias.

Gastroenterology 2019 08 11;157(2):365-381.e4. Epub 2019 May 11.

Institute of Translational Immunology and Research Center for Immune Therapy, University Medical Center, Johannes Gutenberg University, Mainz, Germany; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts. Electronic address:

Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Read More

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http://dx.doi.org/10.1053/j.gastro.2019.04.050DOI Listing
August 2019
14 Reads

Blistering Disease During the Treatment of Chronic Hepatitis C With Ledipasvir/Sofosbuvir.

Fed Pract 2019 Mar;36(Suppl 2):S11-S13

is a Dermatology Resident Physician, is a Physician Assistant Student, is a Dermatology Attending Physician, is a Gastroenterology and Hepatology Attending Physician, and is a Dermatology Attending Physician, all at the University of Tennessee Health Science Center in Memphis. is a Medical Student at College of Osteopathic Medicine, Lincoln Memorial University DeBusk College of Osteopathic Medicine in Harrogate, Tennessee. Bradford Waters is a Gastroenterology and Hepatology Attending Physician and Robert Skinner is a Dermatology Attending Physician, both at the Memphis Veterans Affairs Medical Center in Tennessee.

Hepatitis C virus-associated porphyria cutanea tarda can result from viral-induced inhibition of uroporphyrinogen decarboxylase and the subsequent accumulation of uroporphyrins and associated metabolites in urine. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453604PMC
March 2019
7 Reads

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study.

Orphanet J Rare Dis 2019 04 3;14(1):77. Epub 2019 Apr 3.

Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway.

Background: Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but the evidence is unclear. We aimed to investigate cancer and premature mortality risk in persons with PCT. Read More

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http://dx.doi.org/10.1186/s13023-019-1051-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448269PMC
April 2019
12 Reads

The effects of sustained virological response to direct-acting anti-viral therapy on the risk of extrahepatic manifestations of hepatitis C infection.

Aliment Pharmacol Ther 2019 06 1;49(11):1442-1447. Epub 2019 Apr 1.

Houston VA HSR&D Center for Innovations in Quality, Effectiveness and Safety, Michael E DeBakey VA Medical Center, Houston, Texas.

Background: Direct-acting anti-viral (DAA) therapy may have a beneficial role in extrahepatic manifestations of hepatitis C virus (HCV) infection. However, the available data are limited.

Aim: To examine the effects of DAA treatment on the risk of several extrahepatic manifestations of HCV. Read More

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http://dx.doi.org/10.1111/apt.15240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510621PMC
June 2019
29 Reads

A 56-year-old male with porphyria cutanea tarda.

Authors:
Emily Jorge

Nurse Pract 2019 May;44(5):18-22

Emily Jorge is a dermatology certified NP of the Skin Cancer & Cosmetic Dermatology Centers, Dalton, Ga.

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http://dx.doi.org/10.1097/01.NPR.0000554122.31123.78DOI Listing
May 2019
7 Reads

Experience in management of porphyria cutanea tarda in a tertiary referral Brazilian hospital from 2002 to 2017.

Int J Dermatol 2019 Aug 17;58(8):925-932. Epub 2019 Feb 17.

Department of Dermatology, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil.

Background: Porphyria cutanea tarda (PCT) is the most common porphyria worldwide. The known acquired precipitating factors that induce PCT include alcoholism, hepatitis C virus infection, human immunodeficiency virus infection, and estrogen intake. Hereditary hemochromatosis is considered an inherited risk factor. Read More

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http://dx.doi.org/10.1111/ijd.14398DOI Listing
August 2019
8 Reads

Feasibility of cellular bioenergetics as a biomarker in porphyria patients.

Mol Genet Metab Rep 2019 Jun 29;19:100451. Epub 2019 Jan 29.

Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States.

Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress. Recently, it has become possible to measure mitochondrial function from cells isolated from peripheral blood (cellular bioenergetics) using the XF96 analyzer (). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183014
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http://dx.doi.org/10.1016/j.ymgmr.2019.100451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355507PMC
June 2019
40 Reads

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Mol Genet Metab 2019 11 18;128(3):332-341. Epub 2019 Jan 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Mouse models of the human porphyrias have proven useful for investigations of disease pathogenesis and to facilitate the development of new therapeutic approaches. To date, mouse models have been generated for all major porphyrias, with the exception of X-linked protoporphyria (XLP) and the ultra rare 5-aminolevulinic acid dehydratase deficient porphyria (ADP). Mouse models have been generated for the three autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639143PMC
November 2019
16 Reads

[The cutaneous porphyrias].

Authors:
J-F Cuny

Ann Dermatol Venereol 2019 Feb 30;146(2):143-159. Epub 2019 Jan 30.

Service de dermatologie, CHR Metz-Thionville, 1, allée du Château, CS 45001, 57085 Metz cedex 03, France. Electronic address:

The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183134
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http://dx.doi.org/10.1016/j.annder.2018.12.005DOI Listing
February 2019
17 Reads

Porphyria cutanea tarda: Recent update.

Authors:
Ashwani K Singal

Mol Genet Metab 2019 11 18;128(3):271-281. Epub 2019 Jan 18.

Department of Medicine, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States. Electronic address:

Porphyria cutanea tarda (PCT) is the most common human porphyria, due to hepatic deficiency of uroporphyrinogen decarboxylase (UROD), which is acquired in the presence of iron overload and various susceptibility factors, such as alcohol abuse, smoking, hepatitis C virus (HCV) infection, HIV infection, iron overload with HFE gene mutations, use of estrogens, and UROD mutation. Patients with familial or type II PCT due to autosomal dominant UROD mutation also require other susceptibility factors, as the disease phenotype requires hepatic UROD deficiency to below 20% of normal. PCT clinically manifests with increased skin fragility and blistering skin lesions on sun exposed areas. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183057
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http://dx.doi.org/10.1016/j.ymgme.2019.01.004DOI Listing
November 2019
14 Reads

Porphyria cutanea tarda: a case report.

J Med Case Rep 2019 Jan 21;13(1):17. Epub 2019 Jan 21.

Istanbul Training and Research Hospital, Internal Medicine Department, University of Health Sciences, Istanbul, Turkey.

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. Porphyria cutanea tarda, the most common type of porphyria worldwide, is caused by a deficiency of uroporphyrinogen decarboxylase, a crucial enzyme in heme biosynthesis, which results in an accumulation of photosensitive byproducts, such as uroporphyrinogen, which leads to the fragility and blistering of sun-exposed skin. Read More

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http://dx.doi.org/10.1186/s13256-018-1956-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340172PMC
January 2019
10 Reads

[Recognize rare diseases on the skin].

Internist (Berl) 2019 Feb;60(2):193-201

Klinik für Dermatologie und Allergologie, Universitätsklinikum Marburg (UKGM), Baldingerstr. 1, 35043, Marburg, Deutschland.

The correct interpretation of skin manifestations can facilitate the diagnosis of many rare systemic diseases. Such manifestations can be due to autoimmune diseases (e.g. Read More

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http://dx.doi.org/10.1007/s00108-018-0548-5DOI Listing
February 2019
10 Reads

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Mol Genet Metab 2019 11 30;128(3):320-331. Epub 2018 Nov 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine heme biosynthetic genes. The major sites of heme biosynthesis are the liver and erythron, and the underlying pathophysiology of each of these disorders depends on the unique biochemistry, cell biology, and genetic mechanisms in these tissues. The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and 5-Aminolevlulinic Acid Dehydratase Deficient Porphyria (ADP); 2) a hepatic cutaneous porphyria, Porphyria Cutanea Tarda (PCT); and 3) the cutaneous erythropoietic porphyrias, Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-Linked Protoporphyria (XLP). Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542720PMC
November 2019
19 Reads

The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation.

J Dermatol Sci 2019 01 15;93(1):65-67. Epub 2018 Nov 15.

Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2018.11.004DOI Listing
January 2019
38 Reads

[Porphyria cutanea tarda. Case report].

Rev Med Chil 2018 Aug;146(8):943-946

Escuela de Medicina, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Porphyria cutanea tarda (PCT) is the most common type of porphyria: it is characterized by blistering lesions, erosions and crusts on the back of the hands, associated with photosensitivity and facial hypertrichosis. It is produced by acquired or hereditary deficiency of the enzyme UROD, fifth enzyme in the chain of production of the Heme group. This causes accumulation of porphyrins in the liver, which are subsequently mobilized to the skin, where lesions are generated by photosensitivity. Read More

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http://dx.doi.org/10.4067/s0034-98872018000800943DOI Listing
August 2018
31 Reads

Use HFR-supra for porphyria cutanea tarda treatment in hemodialysis patient.

Nefrologia 2019 Mar - Apr;39(2):216-218. Epub 2018 Dec 7.

Servicio de Nefrología, Centro de Hemodiálisis AVERICUM SL Negrín, Las Palmas de Gran Canaria, Las Palmas, España.

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http://dx.doi.org/10.1016/j.nefro.2018.09.006DOI Listing
January 2020
9 Reads

Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case report.

J Dermatol 2019 05 3;46(5):e149-e151. Epub 2018 Dec 3.

Department of Dermatology, Shinshu University School of Medicine, Nagano, Japan.

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http://dx.doi.org/10.1111/1346-8138.14716DOI Listing
May 2019
28 Reads