Microcytosis in Erythropoietic Protoporphyria [PDF]
Frontiers in Physiology, 2022 Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP) in humans.
Francesca Granata +2 more
exaly +4 more sources
Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient [PDF]
Frontiers in EndocrinologyXeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme.
Wu SH, Xiao T, Zhao D, Zeng YH, Zhu MF.
exaly +4 more sources
Erythropoietic protoporphyria: case reports for clinical and therapeutic hints. [PDF]
Ital J Pediatr, 2023 Background Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations.
Tumminelli C +8 more
europepmc +2 more sources
Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria. [PDF]
Pharmaceuticals (Basel), 2023 Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis.
Madigan KE +4 more
europepmc +2 more sources
When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion. [PDF]
Dermatol Reports, 2023 We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun ...
Rovaris S +8 more
europepmc +2 more sources
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria. [PDF]
Mol Genet Metab RepHomozygous 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 ...
Wang C +10 more
europepmc +2 more sources
Current trials in erythropoietic protoporphyria: are placebo controls ethical? [PDF]
Orphanet J Rare Dis, 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 ...
Barman-Aksözen J +2 more
europepmc +2 more sources
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria. [PDF]
Mol Genet Metab Rep, 2022 The use of iron supplementation for anemia in erythropoietic protoporphyria (EPP) is controversial with both benefit and deterioration reported in single case reports. There is no systematic study to evaluate the benefits or risks of iron supplementation
Balwani M +8 more
europepmc +2 more sources
Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria
Diagnostics, 2022 Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2 ...
Francesca Granata +2 more
exaly +3 more sources
Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report. [PDF]
Liver Res, 2022 Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with
Huang H, Cai L, Li X, Chen S.
europepmc +2 more sources