Results 11 to 20 of about 1,371 (158)

Erythropoietic Protoporphyria [PDF]

Dermatologica, 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. EPP has been reported worldwide, with prevalence between 1:75,000 and 1:200,000.
I, DECARNERI, S, CASTELLINO
doaj   +12 more sources

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

Mol Genet Metab Rep
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 ...
Wang C, Bensaber N, Rebeiz L, Tran B, Tortorelli S, Kyle K, Yalom LK, Moghe A, Anderson KE, Leaf RK, Yeung AK.   +10 more
europepmc   +2 more sources

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints

Italian Journal of Pediatrics, 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.
Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini   +8 more
doaj   +1 more source

In vitro Assessment of Solar Filters for Erythropoietic Protoporphyria in the Action Spectrum of Protoporphyrin IX

Frontiers in Medicine, 2021
Introduction: Subjects with erythropoietic protoporphyria rely on broad-spectrum sunscreens with high sun protection factor, which is not informative on efficacy in the absorption spectrum of protoporphyrin IX, spanning visible radiation and peaking ...
Alvise Sernicola, Elena Cama, Maria Guglielmina Pelizzo, Maria Guglielmina Pelizzo, Enrico Tessarolo, Annamaria Nicolli, Giulia Viero, Mauro Alaibac   +7 more
doaj   +1 more source

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report. [PDF]

Reports (MDPI)
Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic ...
Peshin S, Takrori E, Khan KS, Rahimuddin B, Upadhyaya SK, Gami PK, Singal S.   +6 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

Erythropoietic protoporphyria

Acta Dermato-Venereologica, 1971
No abstract ...
G, Hovding, O I, Haavelsrud, N, Wad
openaire   +4 more sources

Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria

Pharmaceuticals, 2023
Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis.
Katelyn E. Madigan, Sean R. Rudnick, Matthew A. Agnew, Numra Urooj, Herbert L. Bonkovsky   +4 more
doaj   +1 more source

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion

Dermatology 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 ...
Sara Rovaris, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Arisi   +8 more
doaj   +1 more source

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

Molecular Genetics and Metabolism Reports, 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
Manisha Balwani, Hetanshi Naik, Jessica R. Overbey, Herbert L. Bonkovsky, D. Montgomery Bissell, Bruce Wang, John D. Phillips, Robert J. Desnick, Karl E. Anderson   +8 more
doaj   +1 more source