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Erythropoietic protoporphyria: case reports for clinical and therapeutic hints [PDF]

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   +3 more sources

Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient [PDF]

Frontiers in Endocrinology
Xeroderma 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.
Shu-hui Wu, Ting Xiao, Dan Zhao, Ying-hong Zeng, Ming-fang Zhu, Ming-fang Zhu   +5 more
doaj   +4 more sources

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.
Giovanna Graziadei, Lorena Duca, Francesca Granata, Giacomo De Luca, Anna De Giovanni, Valentina Brancaleoni, Isabella Nava, Elena Di Pierro   +7 more
doaj   +5 more sources

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

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   +3 more sources

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

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   +2 more sources

Current trials in erythropoietic protoporphyria: are placebo controls ethical? [PDF]

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, Mattia Andreoletti, Alessandro Blasimme   +2 more
doaj   +2 more sources

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

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

Acta Dermato-Venereologica
is missing (Short communication)
Mirjana Urosevic-Maiwald, Jivko Kamarachev, Christoph Renner, Anna-Elisabeth Minder   +3 more
doaj   +2 more sources

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

Orphanet Journal of Rare Diseases
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 ...
Hetanshi Naik, Susan D. Mathias, Michelle P. Turner, Megan O’Grady, Chelsea Norregaard, Hilary H. Colwell, William Savage, Melanie Chin   +7 more
doaj   +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]

Frontiers in Molecular Biosciences
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
Anna-Elisabeth Minder, Anna-Elisabeth Minder, Francesca Granata, Franziska van Breemen, Franziska van Breemen, Xiaoye Schneider-Yin, Xiaoye Schneider-Yin, Elisabeth I. Minder, Elisabeth I. Minder, Lanja Saleh, Lanja Saleh, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen   +14 more
doaj   +2 more sources