Erythropoietic protoporphyria in pregnancy
Journal of Obstetrics and Gynaecology, 2020 Erythropoietic protoporphyria (EPP) is a rare, genetic condition causing painful, non-blistering photosensitivity, usually without scarring and typically presents in childhood (Ramanujam and Anders...
Elizabeth G, Nevins +1 more
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Current trials in erythropoietic protoporphyria: are placebo controls ethical?
Orphanet Journal of Rare Diseases, 2023 A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and in Europe in a phase III placebo-controlled ...
Jasmin Barman-Aksözen +2 more
doaj +1 more source
Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect. [PDF]
Front PediatrErythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase.
Lipiński P +8 more
europepmc +2 more sources
A Case of Erythropoietic Protoporphyria [PDF]
Baylor University Medical Center Proceedings, 2016 A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts.
Kathryn, Lindsey +2 more
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An overview of the cutaneous porphyrias [version 1; referees: 2 approved]
F1000Research, 2017 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.
Robert Dawe
doaj +1 more source
Photodermatoses in Children [PDF]
JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2017 Photodermatoses cover the skin’s abnormal reactions to sunlight, usually to its ultraviolet (UV) component or visible light. Etiologically, photodermatoses can be classified into 4 categories: (1) immunologically mediated photodermatoses (idiopathic ...
Siti Nurani Fauziah +2 more
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The diagnosis and management of porphyria cutanea tarda (PCT)
South African Family Practice, 2009 The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
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Acquired erythropoietic protoporphyria secondary to myelodysplastic syndrome: from mythology to oncologyAcquired Erythropoietic Protoporphyria Secondary to Myelodysplastic Syndrome: From Mythology to Oncology. [PDF]
Acta Derm Venereolis missing (Short communication)
Urosevic-Maiwald M +3 more
europepmc +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.
Siddesh Besur +3 more
doaj +1 more source
Afamelanotide for Erythropoietic Protoporphyria
New England Journal of Medicine, 2015 Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life.We conducted ...
Langendonk, JG +25 more
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