2,187 results match your criteria Porphyria Cutanea Tarda


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
5 Reads

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

Mol Genet Metab 2019 Jan 18. 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
January 2019
2 Reads

[The cutaneous porphyrias].

Authors:
J-F Cuny

Ann Dermatol Venereol 2019 Jan 29. Epub 2019 Jan 29.

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
January 2019
2 Reads

Porphyria cutanea tarda: Recent update.

Authors:
Ashwani K Singal

Mol Genet Metab 2019 Jan 18. 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
January 2019
4 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
2 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
3 Reads

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

Mol Genet Metab 2018 Nov 30. 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
November 2018
2 Reads

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

J Dermatol Sci 2019 Jan 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
7 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
5 Reads

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

Nefrologia 2018 Dec 7. 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
December 2018
2 Reads

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

J Dermatol 2018 Dec 3. 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
December 2018
2 Reads

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Mol Genet Metab 2018 Nov 28. Epub 2018 Nov 28.

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

Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heterozygous UROD mutation causes half-normal levels of UROD activity systemically, which is a susceptibility factor but is not sufficient alone to cause type 2 PCT. In both Types 1 and 2 PCT, the cutaneous manifestations are precipitated by additional factors that lead to generation of an inhibitor that more profoundly reduces hepatic UROD activity. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.11.013DOI Listing
November 2018
3 Reads

Blisters on the sun-exposed area: as a clue for underlying hepatitis C virus infection.

Postgrad Med J 2018 Nov 16. Epub 2018 Nov 16.

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

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http://pmj.bmj.com/lookup/doi/10.1136/postgradmedj-2018-1361
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http://dx.doi.org/10.1136/postgradmedj-2018-136181DOI Listing
November 2018
11 Reads

[Porphyrias-what is verified?]

Internist (Berl) 2018 Dec;59(12):1239-1248

MVZ Labor PD Dr. Volkmann und Kollegen GbR, 76133, Karlsruhe, Deutschland.

Porphyrias are caused by enzyme defects of heme biosynthesis. According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and erythropoietic porphyrias. Acute hepatic porphyrias, e. Read More

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http://link.springer.com/10.1007/s00108-018-0509-z
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http://dx.doi.org/10.1007/s00108-018-0509-zDOI Listing
December 2018
17 Reads

Porphyrias and photosensitivity: pathophysiology for the clinician.

Postgrad Med 2018 Nov 23;130(8):673-686. Epub 2018 Oct 23.

a Department of Internal Medicine , Nicosia General Hospital, University of Cyprus Medical School , Nicosia , Cyprus.

Porphyrias are disorders caused by defects in the biosynthetic pathway of heme. Their manifestations can be divided into three distinct syndromes, each attributable to the accumulation of three distinct classes of molecules. The acute neurovisceral syndrome is caused by the accumulation of the neurotoxic porphyrin precursors, delta aminolevulinic acid, and porphobilinogen; the syndrome of immediate painful photosensitivity is caused by the lipid-soluble protoporphyrin IX and, the syndrome of delayed blistering photosensitivity, caused by the water-soluble porphyrins, uroporphyrin, and coproporphyrin. Read More

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https://www.tandfonline.com/doi/full/10.1080/00325481.2018.1
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http://dx.doi.org/10.1080/00325481.2018.1533380DOI Listing
November 2018
11 Reads

Non-familial porphyria cutanea tarda: a case report of a rare disease.

G Ital Dermatol Venereol 2018 Sep 18. Epub 2018 Sep 18.

Dermatology, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.23736/S0392-0488.18.06052-2DOI Listing
September 2018
4 Reads

Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.

Acta Derm Venereol 2019 01;99(1):26-32

Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, NL-9700 RB Groningen, The Netherlands.

Mechanobullous epidermolysis bullosa acquisita (mEBA) can have a clinical presentation that is very similar to other blistering diseases, such as porphyria cutanea tarda (PCT) and pseudoporphyria. Direct immunofluorescence is an important feature in the diagnosis of mEBA, although features that overlap with PCT and pseudoporphyria have been reported. This retrospective observational study investigated whether direct immunofluorescence can discriminate mEBA from PCT and pseudoporphyria. Read More

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http://dx.doi.org/10.2340/00015555-3021DOI Listing
January 2019
4 Reads

Porphyria Cutanea Tarda Improvement With Elbasvir/Grazoprevir in End-Stage Renal Disease.

Clin Gastroenterol Hepatol 2018 Aug 9. Epub 2018 Aug 9.

University of Arizona, College of Medicine Phoenix, Phoenix, Arizona; Transplant and Advanced Liver Disease Center, Banner University Medical Center, Phoenix, Arizona.

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http://dx.doi.org/10.1016/j.cgh.2018.08.015DOI Listing
August 2018
13 Reads

A new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β-thalassemia major.

Pediatr Blood Cancer 2018 Dec 9;65(12):e27391. Epub 2018 Aug 9.

Department of Pediatric Hematology and Oncology, University Hospital Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1002/pbc.27391DOI Listing
December 2018
11 Reads

Role of Vitamin C in Skin Diseases.

Front Physiol 2018 4;9:819. Epub 2018 Jul 4.

Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, China.

Vitamin C (ascorbic acid) plays an important role in maintaining skin health and can promote the differentiation of keratinocytes and decrease melanin synthesis, leading to antioxidant protection against UV-induced photodamage. Normal skin needs high concentrations of vitamin C, which plays many roles in the skin, including the formation of the skin barrier and collagen in the dermis, the ability to counteract skin oxidation, and the modulation of cell signal pathways of cell growth and differentiation. However, vitamin C deficiency can cause or aggravate the occurrence and development of some skin diseases, such as atopic dermatitis (AD) and porphyria cutanea tarda (PCT). Read More

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http://dx.doi.org/10.3389/fphys.2018.00819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040229PMC
July 2018
6 Reads

Furosemide-induced pseudoporphyria in a patient with chronic kidney disease: case report.

J Bras Nefrol 2018 Jul-Sep;40(3):287-290. Epub 2018 Jul 10.

Universidade Federal do Paraná, Complexo Hospital de Clínicas, Departamento de Nefrologia, Curitiba, PR, Brasil.

Introduction: Pseudoporphyria is a rare photodermatosis with characteristics similar to those of porphyria cutanea tarda, without, however, presenting abnormalities in porphyrin metabolism. Its etiology is related to chronic kidney disease, ultraviolet radiation and certain medications. The aim of the present study is to describe a case of furosemide-related pseudoporphyria in a patient with chronic kidney disease. Read More

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http://dx.doi.org/10.1590/2175-8239-jbn-2017-0029DOI Listing
July 2018
6 Reads

Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo.

Case Rep Dermatol 2018 May-Aug;10(2):115-121. Epub 2018 May 17.

Division of Dermatology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.

Porphyria cutanea tarda (PCT) is a cutaneous porphyria that presents later in life with cutaneous findings in sun-exposed sites. We report a complex case of PCT in a 67-year-old woman with an unusual constellation of cutaneous findings: scleroderma, acquired ichthyosis, and nonscarring alopecia. Possible triggers for her PCT include tamoxifen treatment for breast cancer and carrier status of the hemochromatosis gene. Read More

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http://dx.doi.org/10.1159/000488899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006631PMC
May 2018
6 Reads

Hepatitis C virus core protein triggers abnormal porphyrin metabolism in human hepatocellular carcinoma cells.

PLoS One 2018 1;13(6):e0198345. Epub 2018 Jun 1.

Biopharmaceutics and Molecular Toxicology Unit, Faculty of Pharmaceutical Sciences, Teikyo Heisei University, Nakano-ku, Tokyo, Japan.

Porphyria cutanea tarda (PCT), the most common of the human porphyrias, arises from a deficiency of uroporphyrinogen decarboxylase. Studies have shown a high prevalence of hepatitis C virus (HCV) infection in patients with PCT. While these observations implicate HCV infection as a risk factor for PCT pathogenesis, the mechanism of interaction between the virus and porphyrin metabolism is unknown. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0198345PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983478PMC
January 2019
6 Reads
3.230 Impact Factor

[Sclerodermatous changes revealing porphyria cutanea tarda].

Authors:
A Brunet E Hainaut

Ann Dermatol Venereol 2018 Aug - Sep;145(8-9):500-504. Epub 2018 May 24.

Service de dermatologie, CHU de Poitiers, 2, rue de la Milétrie, 86021 Poitiers, France.

Background: Porphyria cutanea tarda (PCT) is associated with cutaneous accumulation of porphyrins. This accumulation results from a deficiency of uroporphyrinogen decarboxylase occurring only in the liver. The classical presentation is blistering on sun-exposed areas. Read More

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http://dx.doi.org/10.1016/j.annder.2017.11.016DOI Listing
May 2018
16 Reads

Pseudo porphyria or porphyria cutanea tarda?

Rev Gastroenterol Peru 2018 Jan-Mar;38(1):111-112

Department of Internal Medicine, Armed Forces Hospital and Catholic University. Brasília DF, Brazil.

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January 2019
2 Reads

Porphyria cutanea tarda presenting as milia and blisters.

CMAJ 2018 May;190(20):E623

Faculty of Medicine, University of Ottawa, Ottawa, Ont.

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http://dx.doi.org/10.1503/cmaj.180152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962394PMC
May 2018
2 Reads

SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.

Ann Hum Genet 2018 Sep 17;82(5):300-303. Epub 2018 May 17.

Dermatology Department, Rio de Janeiro State University, Rio de Janeiro, Brazil.

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. Read More

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http://dx.doi.org/10.1111/ahg.12253DOI Listing
September 2018
6 Reads

Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis.

Br J Dermatol 2018 Dec 26;179(6):1351-1357. Epub 2018 Jul 26.

Division of Gastroenterology and Hepatology, University of Alabama, Birmingham, AL, U.S.A.

Background: Porphyria cutanea tarda (PCT) is the most common human porphyria. It is caused by hepatic deficiency of uroporphyrinogen decarboxylase 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 antimalarials. Read More

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http://dx.doi.org/10.1111/bjd.16741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230514PMC
December 2018
3 Reads

Blisters, Sores and Scars on the Dorsal Hands in a 17-year-old Girl: A Quiz.

Acta Derm Venereol 2018 Aug;98(8):815-816

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark.

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http://dx.doi.org/10.2340/00015555-2962DOI Listing
August 2018
2 Reads

Porphyria and kidney diseases.

Clin Kidney J 2018 Apr 10;11(2):191-197. Epub 2018 Jan 10.

Centre Francais des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes, France.

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. Read More

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http://dx.doi.org/10.1093/ckj/sfx146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5888040PMC
April 2018
7 Reads

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).

An Bras Dermatol 2018 Jan-Feb;93(1):148-150

Department of Dermatology, Hospital Universitário Pedro Ernesto - Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.

Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20186666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871387PMC
April 2018
39 Reads

The devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda.

Lupus 2018 Jul 9;27(8):1383-1386. Epub 2018 Apr 9.

1 Division of Rheumatology, University of Michigan Medical School, USA.

A 29-year-old woman with a 1.5 year history of photosensitive skin lesions on her hands presented with a malar rash, bullous lesions on her hands, and was diagnosed with subacute lupus erythematosus after serologies revealed a positive antinuclear antibody test (1:2560), and antibodies to Ro/SSA and dsDNA. Hydroxychloroquine (400 mg/day) was prescribed and the patient developed severe drug-induced liver injury. Read More

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http://dx.doi.org/10.1177/0961203318768884DOI Listing
July 2018
6 Reads

Photosensitive disorders in HIV.

Authors:
Karen Koch

South Afr J HIV Med 2017 31;18(1):676. Epub 2017 Aug 31.

Wits University Donald Gordon Medical Centre, Johannesburg, South Africa.

Photosensitive disorders are common, affecting up to 5% of HIV-positive patients. HIV itself induces photosensitivity but photoaggravated drug reactions, porphyria cutanea tarda and nutritional disorders such as pellagra are also more common in patients with HIV. In South Africa, actinic lichenoid leukomelanoderma of HIV is a unique photosensitive disorder which is associated with advanced HIV. Read More

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http://dx.doi.org/10.4102/sajhivmed.v18i1.676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842981PMC
August 2017
1 Read

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Med J 2018 04 19;9(2). Epub 2018 Apr 19.

Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

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. Read More

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http://dx.doi.org/10.5041/RMMJ.10333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916231PMC
April 2018
6 Reads

Diagnosing diabetes mellitus in patients with porphyria cutanea tarda.

Int J Dermatol 2018 Jul 8;57(7):763-769. Epub 2018 Mar 8.

Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, Odense C, Denmark.

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. Read More

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http://dx.doi.org/10.1111/ijd.13938DOI Listing
July 2018
7 Reads

[Porphyria cutanea tarda as extrahepatic manifestation of chronic hepatitis C: a case report].

Rev Gastroenterol Peru 2017 Oct-Dec;37(4):394-398

Facultad de Medicina, Universidad Peruana Cayetano Heredia. Lima, Perú.

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. Read More

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September 2018
8 Reads

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: Urine 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. Read More

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http://link.springer.com/10.1007/s11306-017-1305-9
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http://dx.doi.org/10.1007/s11306-017-1305-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794841PMC
December 2017
9 Reads

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

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http://dx.doi.org/10.1080/09273948.2017.1421231DOI Listing
January 2018
3 Reads

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776741PMC
January 2018
6 Reads

Porphyria.

N Engl J Med 2017 11;377(21):2100-1

Institucion Prestadora de Servicios de Salud–Universitaria Universidad de Antioquia, Medellin, Colombia

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http://www.nejm.org/doi/10.1056/NEJMc1712682
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http://dx.doi.org/10.1056/NEJMc1712682DOI Listing
November 2017
5 Reads

Porphyria.

N Engl J Med 2017 11;377(21):2100

Royal Melbourne Hospital, Parkville, VIC, Australia

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http://dx.doi.org/10.1056/NEJMc1712682DOI Listing
November 2017
9 Reads

Porphyria.

N Engl J Med 2017 11;377(21):2101

Wake Forest School of Medicine, Winston-Salem, NC

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http://dx.doi.org/10.1056/NEJMc1712682DOI Listing
November 2017
5 Reads

An overview of the cutaneous porphyrias.

Authors:
Robert Dawe

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

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http://dx.doi.org/10.12688/f1000research.10101.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664971PMC
October 2017
15 Reads

Resolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy.

J Antimicrob Chemother 2017 10;72(10):2955-2958

Internal Medicine and Clinical Immunology Unit, IRCCS AOU San Martino-IST, Genoa, Italy.

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http://dx.doi.org/10.1093/jac/dkx222DOI Listing
October 2017
2 Reads

Elderly Man With Bullous Eruption on the Feet.

Ann Emerg Med 2017 Oct;70(4):598-604

Medical School, Centro Universitário Barão de Mauá, Ribeirão Preto, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.annemergmed.2017.04.028DOI Listing
October 2017
8 Reads

Bullous lesions in a haemodialysis patient.

Nephrology (Carlton) 2017 10;22(10):822-823

Renal Department, Rockhampton Hospital, Rockhampton, Queensland, Australia.

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http://dx.doi.org/10.1111/nep.12959DOI Listing
October 2017

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

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http://dx.doi.org/10.1007/s12328-017-0772-xDOI Listing
October 2017
46 Reads

Porphyria.

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.).

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http://dx.doi.org/10.1056/NEJMra1608634DOI Listing
August 2017
9 Reads

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 10 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

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http://dx.doi.org/10.1002/hed.24771DOI Listing
October 2017
4 Reads