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    Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.
    Metabolomics 2018 4;14(1):10. Epub 2017 Dec 4.
    1INSERM U1147, Centre Universitaire des Saints Pères, Paris, France.
    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: UrineH-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. Read More

    Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of another Risk Factor.
    Ocul Immunol Inflamm 2018 Jan 25:1-4. Epub 2018 Jan 25.
    a Department of Ophthalmology , Government Medical College and Hospital , Chandigarh , India.
    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. Read More

    Bullosis Diabeticorum: A Rare Presentation with Immunoglobulin G (IgG) Deposition Related Vasculopathy. Case Report and Focused Review.
    Am J Case Rep 2018 Jan 15;19:52-56. Epub 2018 Jan 15.
    Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
    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. Read More

    An overview of the cutaneous porphyrias.
    F1000Res 2017 30;6:1906. Epub 2017 Oct 30.
    Scottish Cutaneous Porphyria Service, Scottish Photodiagnostic Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.
    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. Read More

    Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C.
    Clin J Gastroenterol 2017 Oct 7;10(5):459-463. Epub 2017 Sep 7.
    Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, 7-45-1 Nanakuma, Jonan, Fukuoka, 814-0180, Japan.
    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. Read More

    N Engl J Med 2017 Aug;377(9):862-872
    From the Department of Medicine, Division of Gastroenterology and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B.); the Departments of Preventive Medicine and Community Health and Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston (K.E.A.); and the Department of Gastroenterology, Wake Forest School of Medicine, Winston-Salem, NC (H.L.B.).

    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.
    Head Neck 2017 Oct 16;39(10):E102-E109. Epub 2017 Aug 16.
    University of North Dakota School of Medicine, Grand Forks, North Dakota.
    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. Read More

    Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
    Clin Rev Allergy Immunol 2017 Dec;53(3):306-336
    Section of Dermatology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
    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. Read More

    Dermatologic Manifestations of Chronic Hepatitis C Infection.
    Clin Liver Dis 2017 Aug 25;21(3):555-564. Epub 2017 Apr 25.
    Betty and Guy Beatty Center for Integrated Research, Inova Health System, Inova Fairfax Hospital, Claude Moore Health Education and Research Building, 3rd Floor, 3300 Gallows Road, Falls Church, VA 22042, USA; Department of Medicine, Center for Liver Disease, Inova Fairfax Hospital, Claude Moore Health Education and Research Building, 3rd Floor, 3300 Gallows Road, Falls Church, VA 22042, USA. Electronic address:
    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. Read More

    Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda.
    Am J Med Sci 2017 Jun 8;353(6):523-528. Epub 2017 Mar 8.
    Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, Texas; Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas.
    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). Read More

    The effect of sustained virological response on the risk of extrahepatic manifestations of hepatitis C virus infection.
    Gut 2018 Mar 20;67(3):553-561. Epub 2017 Jun 20.
    Department of Epidemiology, Human Genetics, and Environmental Sciences, The University of Texas School of Public Health, Houston, Texas, USA.
    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). Read More

    Sporadic Porphyria in a patient with stage II melanoma treated with interferon α.
    Curr Drug Saf 2017 May 2. Epub 2017 May 2.
    Porphyria cutanea tarda (PCT) is the most common form of human porphyria, due to reduced activity of uroporphyrinogen decarboxylase (UROD). There are many factors which can trigger PCT such as viral infections, excessive alcohol intake, iron overload, hepatotoxic drugs and hepatic tumours. Drug induced PCT is well documented but PCT induced by interferon α has rarely been described and only in cases of Hepatitis C Virus (HCV) infection or haematological malignancies. Read More

    Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review.
    Dermatol Online J 2017 Feb 15;23(2). Epub 2017 Feb 15.
    St Vincent's Hospital, Melbourne, Victoria, Australia. matthew.david.
    Patients with the rare genodermatosis congenitalerythropoietic porphyria (CEP, Gunther disease)develop erosions and scarring on sun-exposedsites caused by phototoxin mediated damage.Compromised skin barrier function places patientsat higher risk of infection and long term sequelaeinclude scarring. We report a long term follow up ofa 60 year old patient born with CEP and provide anextensive literature review of CEP including recentupdates on potential management options. Read More

    Porphyria cutanea tarda: an intriguing genetic disease and marker.
    Int J Dermatol 2017 Jun 21;56(6):e106-e117. Epub 2017 Mar 21.
    Dermatology, Rutgers New Jersey Medical School, Newark, NJ, USA.
    Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. Read More

    Performing therapeutic venesection in a doctor's surgery.
    Aust Fam Physician 2017 Mar;46(3):132-138
    Background: Although venesection was widely applied in the past for the treatment of various ailments and diseases, in modern medical practice, it is indicated in very few conditions, namely, hereditary haemochromatosis, polycythaemia and porphyria cutanea tarda.

    Objective: This article briefly reviews the pathophysiology of these conditions, and the rationale and goals of therapeutic venesection as a treatment modality. It also summarises the venesection procedure itself and the considerations for setting up a venesection service in a doctor's surgery. Read More

    Hepatitis C virus and its cutaneous manifestations: treatment in the direct-acting antiviral era.
    J Eur Acad Dermatol Venereol 2017 Aug 29;31(8):1260-1270. Epub 2017 Mar 29.
    Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY, USA.
    New all-oral direct-acting antivirals (DAA) have changed the hepatitis C virus (HCV) treatment landscape. Given that dermatologists frequently encounter HCV-infected patients, knowledge of the current treatment options and their utility in treating HCV-associated dermatologic disorders is important. In addition to highlighting the new treatment options, we review four classically HCV-associated dermatologic disorders - mixed cryoglobulinaemia (MC), lichen planus (LP), porphyria cutanea tarda (PCT) and necrolytic acral erythema (NAE) - and examine the role for all-oral direct-acting antiviral (DAA) regimens in their treatment. Read More

    Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose.
    Case Rep Nephrol 2017 22;2017:4591871. Epub 2017 Jan 22.
    Department of Dermatology, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.
    (PCT) is a rare disease, with a strong association with hepatitis C virus. PCT is particularly problematic in end-stage renal disease patients as they have no renal excretion of porphyrins and these are poorly dialyzed. Also, conventional treatment of PCT is compromised in these patients as hydroxychloroquine is contraindicated, phlebotomies with the stipulated frequency are poorly tolerated in already anaemia-prone patients, and iron-chelating agents are less efficient in removing iron and contribute to worsening anaemia. Read More

    A case of porphyria cutanea tarda of the liver exhibiting multifocal macrovesicular steatosis in the background of microvesicular steatosis, probably caused by uneven iron accumulation.
    Abdom Radiol (NY) 2017 Jul;42(7):1813-1818
    Department of Radiology, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan.
    A 61-year-old man with chronic hepatitis B and a history of alcohol overconsumption was admitted to our hospital for the scrutiny of multiple echogenic liver nodules. CT and hepatobiliary phase of gadoxetate-enhanced MR imaging revealed no nodular lesions. Quantitative fat fraction images and R2* map of MR imaging suggested homogeneous steatosis and uneven iron deposition in the liver, namely moderately and severely elevated R2* values at the nodules and surrounding background liver, respectively. Read More

    Bullous, pseudobullous, & pustular dermatoses.
    Semin Diagn Pathol 2017 May 14;34(3):250-260. Epub 2016 Dec 14.
    Section of Dermatopathology, Division of Surgical Pathology & Cytopathology, University of Virginia Medical Center, Charlottesville, VA, United States. Electronic address:
    Several dermatoses are typified by the formation of spaces (blisters; bullae) within or beneath the epidermis. These may be acellular or filled with particular species of inflammatory cells. Etiological categories include infectious, immune-mediated, genetic, drug-related, and idiopathic lesions. Read More

    Photodermatoses: Kids are not just little people.
    Clin Dermatol 2016 Nov - Dec;34(6):724-735. Epub 2016 Jul 12.
    University of Connecticut School of Medicine, Department of Dermatology, Farmington, CT.
    Photodermatoses are a group of skin disorders caused by abnormal reaction to ultraviolet radiation. Photodermatoses are divided into four groups: (1) immunologically mediated photodermatoses; (2) chemical- and drug-induced photodermatoses; (3) photoaggravated dermatoses; and (4) hereditary photodermatoses. This contribution discusses differences in the approach and diagnosis of pediatric and adult patients with suspected photodermatoses, focusing on immunologically mediated photodermatoses and chemical- and drug-induced photodermatoses. Read More

    Hepatic porphyria: A narrative review.
    Indian J Gastroenterol 2016 Nov 31;35(6):405-418. Epub 2016 Oct 31.
    Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA.
    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). Read More

    Acute intermittent porphyria precipitated by atazanavir/ritonavir.
    Int J STD AIDS 2016 11 11;27(13):1234-1235. Epub 2016 Feb 11.
    Division of Infectious Diseases, Department of Medicine, Hofstra North Shore-LIJ School of Medicine, Manhasset, NY, USA.
    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 are fewer 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. Read More

    The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.
    PLoS One 2016;11(9):e0163322. Epub 2016 Sep 23.
    Department of Medicine, Hematology Division, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.
    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. Read More

    Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria.
    Adv Clin Exp Med 2016 Mar-Apr;25(2):361-8
    Department of Haemostasis and Metabolic Disorders of the Institute of Haematology and Transfusion Medicine, Warszawa, Poland.
    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. Read More

    Porphyria cutanea tarda in a HIV- positive patient.
    An Bras Dermatol 2016 Jul-Aug;91(4):520-3
    Pontifícia Universidade Católica do Paraná (PUCPR) - Curitiba (PR), Brazil.
    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. Read More

    Clinical applications of therapeutic phlebotomy.
    J Blood Med 2016 18;7:139-44. Epub 2016 Jul 18.
    Department of Physical Medicine and Rehabilitation, Soonchunhyang University, Cheonan Hospital, Cheonan, South Korea.
    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. Read More

    [Treatment by bloodletting in the past and present].
    Srp Arh Celok Lek 2016 Mar-Apr;144(3-4):240-8
    Introduction: Therapeutic bloodletting has been practiced at least 3000 years as one of the most frequent methods of treatment in general, whose value was not questioned until the 19th century, when it was gradually abandoned in Western medicine, while it is still practiced in Arabic and traditional Chinese medicine.

    Content: In modern medicine bloodletting is practiced for very few indications. Its concept was modeled on the process of menstrual bleeding, for which it was believed to"purge women of bad humours. Read More

    Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children.
    JAMA Dermatol 2016 Nov;152(11):1258-1261
    Department of Dermatology, Stanford University, Stanford, California.
    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). Read More

    Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda.
    Indian J Dermatol 2016 May-Jun;61(3):318-20
    Department of Dermatology, Medical College and Hospital, Kolkata, West Bengal, India.
    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. Read More

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