Results 1 to 10 of about 11,700 (180)

Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria [PDF]

Molecular Genetics and Metabolism Reports
Homozygous variegate porphyria (HVP) is an ultra-rare porphyria caused by biallelic pathogenic variants in PPOX. It typically presents with early childhood onset of cutaneous photosensitivity, including blistering, skin fragility, scarring, and poorly ...
Chenqing Wang, Narmene Bensaber, Lina Rebeiz, Benny Tran, Silvia Tortorelli, Kevin Kyle, Lenore K. Yalom, Akshata Moghe, Karl E. Anderson, Rebecca K. Leaf, Amy K. Yeung   +10 more
doaj   +2 more sources

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Herbert L Bonkovsky
exaly   +3 more sources

Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production [PDF]

Orphanet Journal of Rare Diseases
δ-Aminolevulinic acid dehydratase deficient porphyria (ADP) is an exceedingly rare form of acute porphyria, with only fifteen published cases worldwide.
Niels C. Veldhoen, Nicole C. Peltenburg, Eduard J. van Beers, Edith C. H. Friesema, Janneke G. Langendonk   +4 more
doaj   +2 more sources

Letter to the Editor—Comment on “Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment” [PDF]

J Dermatol
The Journal of Dermatology, Volume 53, Issue 9, Page e767-e768, September 2026.
de Rover I, Peltenburg N, Sweep J, Langendonk J.   +3 more
europepmc   +2 more sources

The Porphyrias

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022
SummaryThe porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic ...
Muschalek, Wiebke, Hermasch, Matthias A., Poblete‐ Gutiérrez, Pamela, Frank, Jorge   +3 more
openaire   +3 more sources

Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study

Orphanet Journal of Rare Diseases, 2021
Background This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates.
Liz Gill, Sue Burrell, John Chamberlayne, Stephen Lombardelli, Jordanna Mora, Nicola Mason, Marieke Schurer, Madeline Merkel, Stephen Meninger, John J. Ko   +9 more
doaj   +1 more source

Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study

JIMD Reports, 2023
Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being.
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance   +16 more
doaj   +1 more source

Porphyria or not porphyria – that is the question… [PDF]

BMJ Case Reports, 2010
A 55-year-old man presented with a 2-month history of blisters affecting his hands. His history was significant for treated multiple myeloma with residual monoclonal gammopathy of undetermined significance, and end stage renal disease on automated peritoneal dialysis.
Smyth, A., Redahan, L., Wall, C., Mellotte, G. J.   +3 more
openaire   +3 more sources

Detect Acute Porphyrias in Emergency Departments (DePorED) – a pilot study

Orphanet Journal of Rare Diseases, 2023
Background Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psychiatric symptoms, thus leading to
Eva Diehl-Wiesenecker, Sabine Blaschke, Nils Wohmann, Ilja Kubisch, Thomas Stauch, Mona Mainert, Franziska Helm, Sabine von Wegerer, David Pittrow, Jorge Frank, Ulrich Stölzel, Rajan Somasundaram   +11 more
doaj   +1 more source

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

Health and Quality of Life Outcomes, 2020
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 ...
Janice Andersen, Janne Thomsen, Åshild Rostad Enes, Sverre Sandberg, Aasne K. Aarsand   +4 more
doaj   +1 more source