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Erythropoietic protoporphyria [PDF]

Orphanet Journal of Rare Diseases, 2009
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Puy Hervé, Lecha Mario, Deybach Jean-Charles   +2 more
doaj   +11 more sources

Acquired erythropoietic protoporphyria secondary to myelodysplastic syndrome: from mythology to oncologyAcquired Erythropoietic Protoporphyria Secondary to Myelodysplastic Syndrome: From Mythology to Oncology. [PDF]

Acta Derm Venereol
is missing (Short communication)
Urosevic-Maiwald M, Kamarachev J, Renner C, Minder AE.   +3 more
europepmc   +2 more sources

Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels-a single-centre retrospective study. [PDF]

Front Mol Biosci
IntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Minder AE, Granata F, van Breemen F, Schneider-Yin X, Minder EI, Saleh L, Barman-Aksözen J.   +6 more
europepmc   +2 more sources

Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect. [PDF]

Front Pediatr
Erythropoietic 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, Lipniacka A, Klaudel-Dreszler M, Ziółkowska L, Kostrzewa G, Odnoczko E, Wasilewski R, Płoski R, Tylki-Szymańska A.   +8 more
europepmc   +2 more sources

Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ). [PDF]

Orphanet J Rare Dis
Background Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one’s health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that ...
Naik H, Mathias SD, Turner MP, O'Grady M, Norregaard C, Colwell HH, Savage W, Chin M.   +7 more
europepmc   +2 more sources

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria

Life, 2023
In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Elisabeth Minder, Xiaoye Schneider-Yin, Schneider-Yin Xiaoye   +2 more
exaly   +3 more sources

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review. [PDF]

Orphanet J Rare Dis
Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase.
Xiong H, He S, Yang Z, Zheng R, Yu H.
europepmc   +2 more sources

Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria. [PDF]

JIMD Rep
Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria are metabolic disorders that cause skin phototoxicity and potential liver damage. We compared symptoms and impacts of phototoxic reactions, health‐related quality of life, and healthcare ...
Naik H, Wheeden K, Colwell HH, Mathias SD, Norregaard C, Chin M, Savage W, Balwani M.   +7 more
europepmc   +2 more sources

Inhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria. [PDF]

Nat Commun
Erythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available.
Zhu J, Qin FY, Lei S, Gu R, Qi Q, Lu J, Anderson KE, Wipf P, Ma X.   +8 more
europepmc   +2 more sources

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

JAAD Case Reports, 2017
Teruhiko Makino, Tadamichi Shimizu, Fumina Furukawa   +2 more
exaly   +3 more sources